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[
{
"age": 53,
"case_id": "PMC3738355_01",
"case_text": "A 53-year-old woman presented with a 10-year history of intermittent abdominal pain, swelling and continuous vomiting. The patient denied presence of fever, nausea, and weight loss. There were no significant findings at physical examination. An abdominal ultrasound exam revealed a 10.4 x 10.0 cm mass of heterogeneous echogenicity in the left upper abdomen. Axial unenhanced CT scan (Fig. 1a) confirmed an ill-defined heterogeneous mass 9.1 cm in diameter that filled the left abdominal quadrant, located between the left lobe of the liver and the spleen. The CT attenuation of the mass was around 26-53 HU on non-enhanced scan. After intravenous contrast medium injection the mass enhanced gradually and heterogeneously (Fig. 1b-e), but was still hypodense relative to the spleen. There was no accompanying lymphadenopathy or evidence of malignant process elsewhere in the abdomen. Because the origin of the mass was unknown and a primary malignancy could not be excluded, the patient underwent an explorative laparotomy. During the operation, a well-encapsulated mass was found under the left hepatic lobe and the pedicle arising from the spleen. Resection of the mass and the spleen was performed. \nGross examination of the spleen showed splenomegaly (580 g, 15 x 10 x 9 cm) with an ill-defined brownish nodule (5 x 8 x 8 cm). Histologic examination (Fig. 2) revealed that the lesion was composed of variably sized vascular channels lined with flat and tall endothelial cells, with papillary fronds extending into the vascular channels. No atypical cells or mitosis were present. The endothelial lining cells of the vascular channels were positive for CD31 and CD68, factor VIII and negative for CD34, CD21, and CD8. These findings were considered diagnostic of benign splenic littoral cell angioma.",
"gender": "Female"
}
] |
PMC3738355
|
[
{
"age": 69,
"case_id": "PMC5015624_01",
"case_text": "A 69-year-old Caucasian female with coronary artery disease, hyperlipidemia, bilateral cataract extraction three years prior, and a fifty pack-year smoking history presented to the clinic with chronic, progressive vision loss greater in the right eye, bilateral photophobia and flashes, and right eye and temple pain. Best corrected visual acuity was 20/50 in both eyes. Pupils were equal and without afferent pupillary defect (APD). Intraocular pressure was 12 mmHg and 10 mmHg in the right and left eyes, respectively. Confrontation visual fields revealed an inferonasal depression in the right eye. Slit lamp biomicroscopy showed iris neovascularization of both eyes (Figure 1 (Fig. 1)). Dilated fundus examination showed unremarkable optic nerves, attenuated arteries, and dilated, non-tortuous veins in both eyes with few drusen in the right macula and very few hemorrhages. Optical coherence tomography showed no evidence of macular edema (Figure 2 (Fig. 2)). \nFluorescein angiography exhibited delayed arterial filling and poor peripheral perfusion (Figure 3 (Fig. 3)). Right temporal artery biopsy was negative for giant cell arteritis. We ruled out hyperviscosity syndromes, blood dyscrasia, diabetes, Takayasu, collagen vascular disease, thyroid orbitopathy and various infectious causes of retinal ischemia and aortitis. CBC, SPEP, HbA1c, ESR, CRP, FTA-ABS, and hypercoagulation panel were unremarkable. Carotid duplex ultrasound indicated only mild carotid stenosis (1-39%) bilaterally. At the time of initial presentation, the patient was taking Lipitor, Aspirin 81 mg, Relafen, Klonopin, Zoloft, and Nexium. \nThe patient received pan-retinal photocoagulation (PRP) in the right eye. Due to low tolerance, a retrobulbar block without epinephrine was administered to the right eye prior to the second PRP ten days later at which time 3,625 spots with a duration of 20 milliseconds of 500 mW were delivered using the indirect laser ophthalmoscope. Eighteen days after this laser session visual acuity had dropped significantly in the right eye to count fingers at 3' with APD and attenuated posterior vasculature consistent with central retinal artery occlusion. MRA Extracranial showed proximal occlusion of aortic arch branches (Figure 4 (Fig. 4)). Due to concern for diminished blood supply from the aortic arch, the patient received a left subclavian artery to right common carotid artery bypass graft. One month after surgery, neovascular glaucoma developed in the right eye with intraocular pressure of 34 mmHg and 22 mmHg in the left eye. Pressures remained stable on Combigan twice daily. We treated the left eye with short sessions of laser for a total of 2,200 burns (0.05-0.07 sec, 300 micron) using the Laser indirect system for one session and the Varia multicolor slit-lamp system for the remaining 5 sessions. Six months after the bypass surgery, she maintained a visual acuity of 20/50 in the left eye and intraocular pressure was 18 mmHg.",
"gender": "Female"
}
] |
PMC5015624
|
[
{
"age": 60,
"case_id": "PMC6381877_01",
"case_text": "A 60-year-old male smoker presented with persistent cough and severe right-back pain. His performance status (PS) was 2 by the pain despite opioid use in palliative care. In the imaging test of full body, chest X-ray and chest CT revealed a large lung mass, extending to posterior chest wall and vertebral body, surrounded by lymphangitic carcinomatosis in the right lower lung as well as multiple lymphadenopathy and right pleural effusion (Fig. 1a, b). Bronchoscopic biopsy of the tumor lead to a diagnosis of primary lung adenocarcinoma (cT4N2M1a, stage IV) harboring the EGFR exon 19 deletion mutation. No other molecular analysis was performed. The patient was started on gefitinib at 250 mg/day for the treatment of lung adenocarcinoma. However, by 28 days after the start of gefitinib therapy, his symptoms further deteriorated along with the increased tumor size, resulting in PS 3 (Fig. 2a, b).\nThen, repeat biopsy was performed from the lung tumor. First, in addition to the preserved EGFR exon 19 deletion mutation, EGFR T790M mutation was analyzed, resulting in negative status. Second, as a possible molecular alteration next to EGFR T790M mutation, fluorescence in situ hybridization (FISH) analysis for MET amplification was analyzed, resulting in positive status (mean MET per cell = 6.7, MET/CEP7 [centromeric enumeration probe for chromosome 7] ratio = 2.5). At this point, cytotoxic chemotherapy was not a candidate for treatment due to his poor PS. Furthermore, although crizotinib was known as potential MET inhibitor as well as anaplastic lymphoma kinase (ALK) inhibitor, combination therapy with crizotinib and EGFR-TKI was considered to lack the evidences about safety. Therefore, combination therapy with bevacizumab and erlotinib was selected on the basis of the potential efficacy for activated MET signaling pathway as well as the confirmed safety by the JO25567 phase II clinical trial.\nThe patient was started on erlotinib at 150 mg/day plus bevacizumab at 15 mg/kg every 3 weeks. By 21 days after the start of this combination therapy, his symptoms gradually improved along with the decreased tumor size, resulting in better PS with no severe toxicities (Fig. 3a, b). However, after 2 cycles of bevacizumab administration, he unfortunately fractured his face from falling down during the rehabilitation to improve the deteriorated activity of daily life (ADL). Then, he underwent open reduction and fixation of his face fracture under general anesthesia. Eventually, he was forced to quit this promising combination therapy.",
"gender": "Male"
}
] |
PMC6381877
|
[
{
"age": 41,
"case_id": "PMC5912312_01",
"case_text": "A 41-year-old female with a past medical history of hypothyroidism and Prinzmetal's angina presented with worsening typical chest pain for 1 day. She was 10 weeks postpartum. Her pain was unresponsive to nitroglycerin and aspirin. Electrocardiogram showed T-wave inversions in anterolateral leads. She was taken to the cardiac catheterization laboratory and was found to have SCAD of the left main (LM), left anterior descending (LAD), and left circumflex arteries (LCx; Figure 1). She was managed with emergent coronary artery bypass graft (CABG) of 2 vessels, including, left internal mammary artery to the LAD and saphenous vein graft (SVG) to the ramus intermedius artery. Her subsequent recovery was uneventful and she was asymptomatic with normal echocardiogram at the 6-month follow-up.",
"gender": "Female"
},
{
"age": 51,
"case_id": "PMC5912312_02",
"case_text": "A 51-year-old male with a history of SCAD presented to our medical Center with refractory angina and decreased exercise tolerance for 2 days. Electrocardiogram showed nonspecific ST-T wave changes with initial troponin level of 0.8 ng/mL (normal <0.01 ng/mL). He was taken to the cardiac catheterization laboratory where coronary angiography showed dissection of both the LAD and the right coronary artery (RCA; Figure 2). He was managed with the deployment of 2 overlapping drug-eluting stents with good angiographic results in the RCA. In his LAD, he had a residual dissection with an angiographically determined good flow. At the 3-month follow-up, he showed recovery of his exercise tolerance and no further episodes of angina.",
"gender": "Male"
},
{
"age": 34,
"case_id": "PMC5912312_03",
"case_text": "A 34-year-old African American female with a recent Cesarean section presented with sudden-onset chest pain for 15 minutes. On admission, electrocardiogram showed ST-segment elevations in V4, V5, and V6. Cardiac catheterization was performed. It revealed a long dissection of the LAD, originating just distal to the ostium and extending up to the mid portion. Thrombolysis in myocardial infarction (TIMI) grade 3 flow (normal flow) was noted. She was initially managed with medical therapy. Two days later, she had recurrent chest pain. Electrocardiogram changes were consistent with ischemia. Repeat catheterization showed stable LAD dissection with new RCA dissection with TIMI grade 1 flow (incomplete filling of distal coronary artery; Figure 3). She underwent an emergent 2-vessel CABG (SVG to LAD and SVG to RCA). Her postoperative period was uneventful. She developed peripartum cardiomyopathy after 3 months but had recovered left ventricular systolic function at the 6-month follow-up.",
"gender": "Female"
},
{
"age": 45,
"case_id": "PMC5912312_04",
"case_text": "A 45-year-old female, professional marathon runner, with a history of Raynaud's phenomenon, migraines, gastroesophageal reflux disease, and serum-positive HLA-B27, developed a sudden-onset chest pain while riding her bicycle. The pain lasted 2 hours, throughout the duration of exercise, and was noted to radiate to her back and jaw. In the emergency room, the electrocardiogram showed anterior wall myocardial infarction (MI) with positive serum troponin of 0.15 ng/mL (normal <0.01 ng/mL). Cardiac catheterization ruled out coronary atherosclerotic disease. However, the LM had a long SCAD that was extending to the mid LAD. The blood supply distal to the lesion was compromised. It was successfully stented with 2 bare metal stents. At the 3-month follow-up, she had an uneventful recovery with partial recommencement of her strenuous physical activity.",
"gender": "Female"
},
{
"age": 49,
"case_id": "PMC5912312_05",
"case_text": "A 49-year-old female with stage IV sarcoidosis presented to our hospital with chest pain and shortness of breath. Electrocardiogram showed STEMI in the anterolateral leads. Emergent catheterization revealed SCAD in the mid LAD with an unsuccessful wiring (Figure 4). The patient was managed conservatively. Later, her hospital course was complicated by a left ventricular thrombus and an embolic stroke requiring anticoagulation. She was discharged to rehabilitation center where she stayed for a period of 6 weeks. At the follow-up in the outpatient clinic, the patient had no residual deficits of recent stroke and had no angina. Over the next year, she had worsening pulmonary hypertension secondary to her sarcoidosis and was deemed a suitable candidate for a heart and lung transplantation.",
"gender": "Female"
},
{
"age": 56,
"case_id": "PMC5912312_06",
"case_text": "A 56-year-old female developed sudden-onset, sharp chest pain that led to syncope. On admission, electrocardiogram showed NSTEMI with a troponin level of 4.5 ng/mL (normal <0.01 ng/mL). Left heart catheterization showed a SCAD involving the LCx with TIMI grade 3 distal flow (Figure 5). While receiving cardiac catheterization, she developed an acute stroke with left-sided visual field deficit and received intravenous tissue plasminogen activator with complete resolution. She was managed conservatively with medical therapy for NSTEMI. She remained compliant with her medications. Follow-up catheterization due to persistent chest pains showed healed LCx dissection with no atherosclerotic disease in the rest of her coronary arteries. She was started on nifedipine for possible diagnosis of Prinzmetal's angina (variant angina). Her symptoms improved drastically on subsequent follow-up visits.",
"gender": "Female"
},
{
"age": 60,
"case_id": "PMC5912312_07",
"case_text": "A 60-year-old female presented to our medical institution with chest pain lasting 15 minutes. Electrocardiogram showed a new-onset right bundle branch block and she was found to have a troponin of 0.24 ng/mL (normal <0.01 ng/mL). Coronary angiogram showed an abnormality in the diagonal branch of the LAD (mid D1 radiolucency) concerning for thrombus versus dissection (Figure 6). Optical coherence tomography was performed to distinguish the lesion. Therein, a SCAD was noted, which was managed with drug-eluting stent placement. Final angiography displayed no evidence of thrombosis, distal embolization, or further dissection. She remained compliant with her dual antiplatelet therapy for 8 months. Subsequently, she experienced a major gastrointestinal bleeding after which clopidogrel (Plavix) was discontinued. She remained symptom-free on follow-up visits.",
"gender": "Female"
},
{
"age": 34,
"case_id": "PMC5912312_08",
"case_text": "A 34-year-old female who was 38 weeks pregnant presented with atypical chest pain for 1 day. Electrocardiogram showed ST-segment elevations in the anterolateral leads with a negative first troponin level. Coronary angiogram showed SCAD of the mid portion of the LAD with large intramural hematoma compromising the blood flow to the first and second diagonal branches of the LAD with TIMI grade 3 flow into distal vessel (Figure 7). No intervention was done and she was admitted to the cardiac care unit where a conservative approach was adopted. After undergoing Cesarean section, repeat coronary catheterization was performed. It showed no evidence of intramural hematoma and a healed LAD dissection.",
"gender": "Female"
},
{
"age": 36,
"case_id": "PMC5912312_09",
"case_text": "A 36-year-old female who was 6-days postpartum presented with typical chest pain radiating to her left arm for 1 hour. Electrocardiogram showed ST-segment elevations in leads V2 and V3 and ST depressions in the inferior leads. Emergent catheterization showed a dissection of the proximal LAD after the first 2 septal perforators with evidence of luminal compromise by a hematoma (Figure 8). Conservative management was planned and she was started on dual antiplatelet therapy. Follow-up catheterization after 6 weeks showed no progression of the LAD dissection with resolution of the hematoma. She remained asymptomatic on follow-up visits.",
"gender": "Female"
}
] |
PMC5912312
|
[
{
"age": 30,
"case_id": "PMC5287946_01",
"case_text": "A 30-year-old man came to Peking Union Medical College Hospital (PUMCH) with headaches, fatigue, diplopia, and impaired visual field and acuity for 6 months which had worsened since the previous 2 weeks. He denied polydipsia, polyuria, sexual hypoactivity, or any symptoms of unconsciousness, epilepsy, convulsion, and cognitive disorders. Physical examinations revealed that his right visual acuity was 0.5 and the left was 0.4. Goldmann perimetry revealed a bitemporal hemianopia. He was found to have ptosis of the right eyelid. The right pupillary reaction to light was absent. Other neurological examination results were normal. His past history was negative for head trauma. His social and family history and his system review were negative.\nThe magnetic resonance imaging (MRI) demonstrated an abnormal mixed signal mass with suprasellar, parasellar, and suprasellar invasiveness in the sellar area (Fig. 1A-C). The lesion was about 2.8 x 1.9 x 1.9 cm, inside which was some spotty necrosis. A dynamic contrast-enhanced scan showed heterogeneous enhancement. Relatively normal pituitary tissue with normal enhancement could be seen near the inferior lesion margin, but was squashed. The optic chiasma was mildly compressed but the basic shape was generally normal. The bilateral internal carotid arteries were also partly wrapped. Laboratory tests used to explore pituitary disorders showed normal levels of pituitary hormones, including prolactin (N < 20 mug/L), luteinizing hormone (LH) (N > 10 IU/L), follicle-stimulating hormone (FSH) (N > 20 IU/L), thyrotropin, and corticotropin. The diagnosis of nonfunctioning pituitary macroadenoma was suspected.\nVia a trans-nasal-sphenoidal approach, a surgical exploration was performed. After drilling the sellar floor and opening the dura, a firm, tough, wheaten mass was found. As its consistency was too elastic and hypervascular to be easily cut by a surgical blade, and it adhered so tightly to the cavernous sinus and internal carotid artery, only subtotal resection was ultimately achieved. Repair of the sellar defect was done with autologous fat and fascia lata. The immediate postoperative sellar MRI was not performed. In a surprise twist, postsurgical hematoxylin and eosin (H & E) stained sections showed that the lesion contains epithelioid and spindled cells with eosinophilic cytoplasm arranged in sheets and nests. Mild-to-moderate nuclear atypia could also be observed. On immunohistochemical evaluation, the tumor cells were positive for Vimentin, CD68, CD34, Nestin, GFAP, Desmin, SMA, AE1/AE3, and S-100 protein, but were negative for NSE, Synuclein, NeuN, EMA, pituitary hormones (LH, FSH, ACTH, TSH, growth hormone, and prolactin), synaptophysin and chromogranin. Ki-67 proliferation index was 6% (Fig. 2A-K). The pathological test supported the diagnosis of adenohypophysis spindle-cell oncocytoma. The postsurgical course was uneventful and his clinical symptoms of headache and diplopia were markedly improved.\nHowever, 1 month after the surgery, the patient's vision declined sharply and meanwhile he complained of severe ophthalmodynia of the right eye. The sellar MRI revealed that the tumor recurred (Fig. 1D and E) and the patient underwent a gamma-knife treatment. But the symptoms were not relieved significantly. Three months later, the sellar MRI showed the lesion was approximately 2.8 x 2.2 x 3.1 cm with equal T1 signal and inhomogeneous long T2 signal, which were enhanced with mass or nodosity after contrast administration. The suprasellar region, bilateral cavernous sinuses, and optic chiasma were further invaded. Necrosis, cyst degeneration, and hemorrhage within the tumor could be detected (Fig. 1F-H). A secondary surgery was performed through the left pterional approach. The tumor's texture was firm to elastic and the bleeding was heavy; therefore, we just performed a partial resection, decompressed the optic nerves and chiasm. The sellar MRI after 1 week of the secondary surgery was shown as Fig. 1I to K. Postsurgically, transient central diabetes-insipidus persisted for 2 weeks. Visual field and acuity remained unimproved. Histological evaluation revealed similar morphology and immunohistochemical profiles to the previous specimen. The Ki-67 index for this time increased to 19%. From the perspectives of pathologists, the pathological grade was considered WHO III.\nOne month after the secondary surgery, the patient came to PUMCH again complaining almost blindness and severe headache. A sellar MRI was arranged, demonstrating that the tumor recurred again to approximately 4.9 x 3.6 x 3.1 cm with necrosis, cyst degeneration, and hemorrhage. The enhancement was inhomogeneous and the surrounding structures and tissues were further invaded (Fig. 1L-P). The third surgery via a transsphenoidal approach was conducted for decompressing. Partial resection was achieved and the visual disturbance and headache were alleviated a lot. Pathological evaluation results were similar to previous, confirming the diagnosis of ASCO. And the Ki-67 proliferation index increased to 45% (WHO III-IV grade, Fig. 2L), highly suggesting its malignancy. The patient has already been followed up for nearly half a year and reported no recurrence of headache and visual deterioration. His right visual acuity was 0.4 and the left was 0.3, evaluated recently.",
"gender": "Male"
}
] |
PMC5287946
|
[
{
"age": 40,
"case_id": "PMC9106225_01",
"case_text": "A 40-year-old female patient was referred for evaluation of an asymptomatic swelling on the lower lip of 6 months duration with a history of local trauma. Clinical examination revealed a well-defined, nontender, smooth-surfaced, roughly oval, fluctuant swelling [Figure 1]. No relevant medical history was elicited. Oral hygiene was fair. A provisional diagnosis of mucocele was made; the lesion was excised under local anesthesia. Histopathological examination of the excised tissue revealed cystic lumen devoid of lining epithelium and surrounded by compressed granulation tissue and peripherally located mixed salivary glands. The lumen was filled with numerous mucinous globular structures which were oval or round in shape and of varying sizes [Figure 2]. Most of the globules present in the cystic lumen were attached to the surrounding cystic capsule and seemed dissociated from one another because of their globular organization. Some of the globules were suspended freely within the lumen [Figure 3]. Individual globules exhibited a mildly cellular core with peripheral laminations of dystrophic calcifications [Figure 4]. The granulation tissue forming the cystic wall was highly cellular, consisting of chronic inflammatory cells. The mucinous globules showed positive results for PAS and Alcian blue [Figures 3 and 4].",
"gender": "Female"
}
] |
PMC9106225
|
[
{
"age": 29,
"case_id": "PMC7276389_01",
"case_text": "A 29 years old female, physician by profession presented to the emergency department with a history of aggressive vomiting five weeks back followed by left upper abdominal, a single episode of loose motion, subcostal pain radiating to left shoulder associated with shortness of breath (SOB) and was unable to take full inspiration. The patient has a history of heartburn, early satiety, indigestion, and food regurgitation six years ago and diagnosed and managed as gastroesophageal reflux disease in her native country.\nThe primary evaluation shows a toxic looking afebrile patient with vitals as; respiratory rate-27/min, pulse 87/min. Along with first-level management, abdominal ultrasonography (US) and initial laboratory workup were done in ED with no abnormal findings and the patient discharged home after the primary management independently and not asking surgeon on-call help. Upon no improvement, the patient revisited the ED where chest x-ray (CXR) as primary imaging modality was requested by surgeon on-call that showed raised right hemidiaphragm with no well discernible outlines, air-filled bowel loops above the hepatic shadow, a chilaiditi's sign, with no mediastinal shift (Fig. 1a), thus a provisional diagnosis of the right-sided diagrammatic hernia was made.\nFollowing CXR, a non-contrast CT requested showing stomach and parts of the colon in the right thoracic cavity (Fig. 2a) along with spleen located posterior to the heart - the retrocardiac spleen (Fig. 2b), thus a final diagnosis of Bochdalek hernia was made.\nSevere vomiting, a few weeks earlier was the triggering event in the patient that led to the initiation of the clinical picture. After initial stabilization, the patient was transferred to a regional tertiary care facility for cardiothoracic surgeon evaluation and management where via open thoracotomy, contents reduced and fortunately there was no vascular compromise. Repair done. Post-operative chest x-ray shows normal findings (Fig. 1b). The patient had uneventful recovery and discharged home on 10th post-operative day. The patient did well in her follow-up period. To the best of our knowledge, it is the first reported case of Bochdalek hernia associated with the retrocardiac spleen in an adult female in the published literature.",
"gender": "Female"
}
] |
PMC7276389
|
[
{
"age": 63,
"case_id": "PMC3134036_01",
"case_text": "A 63-year-old multiparous woman, gravida 4, para 3, complained of abnormal vaginal bleeding of 2 months' duration. She went into menopause at age 54. The patient had no remarkable medical or family histories. On vaginal examination, the uterus was enlarged, non-tender, smooth and movable. Vaginal ultrasonogram and magnetic resonance imaging showed a polypoid mass of 14 x 10 cm in size in the uterus, possibly representing a carcinosarcoma or leiomyosarcoma. No free pelvic fluid was identified. Computed tomography (CT) showed the liver and bile ducts to be normal. The endometrial Pap smear was evaluated as positive. Biopsies of the endometrium were carried out and the histological diagnosis revealed carcinosarcoma. The serum AFP level was 10,131 ng/ml (normal <20). Other tumor markers and liver function test results were within normal limits. The patient underwent a total abdominal hysterectomy, bilateral salpingo-oophorectomy and pelvic lymphadenectomy.\nThe resected enlarged uterus, weighing 560 g and measuring 14 x 12 x 7 cm, had a smooth glistening surface. The polypoid tumor originated from the uterine cavity when the anterior wall of the uterus was opened. The uterine adnexae were normal in shape and size. There was no evidence of a tumorous lesion. Microscopic examination showed that the polypoid tumor was a mixture of carcinomatous and sarcomatous components (fig. 1a). The tumor had invaded the uterine cervix, but no metastases were found in the dissected lymph nodes. The carcinomatous component showed adenocarcinoma arranged in sheets and cords with a hepatoid appearance. Reactivity for AFP was cytoplasmic in the hepatoid carcinoma lesion (fig. 1b). The sarcomatous component showed no reactivity for AFP. The large pleomorphic cells were positive for desmin, actin, CD10, MyoD1, and myoglobin and could be regarded as being rhabdomyosarcoma. There was no staining with S-100. In summary, the tumor was histopathologically diagnosed as heterologous uterine corpus carcinosarcoma associated with AFP-producing hepatoid adenocarcinoma.\nPostoperatively, the patient received six courses of chemotherapy with paclitaxel (175 mg/m2) and carboplatin (AUC 5). This regimen was repeated every 3 weeks. After the third course of chemotherapy, the patient's serum AFP level decreased to 4.5 ng/ml. The patient is alive with no evidence of recurrence or increase in the serum AFP level in the 2 years since treatment.",
"gender": "Female"
},
{
"age": 82,
"case_id": "PMC3134036_02",
"case_text": "An 82-year-old woman, gravida 0, para 0, was referred to our hospital with vaginal bleeding of 2 months' duration. She had undergone surgery due to breast cancer at the age of 68. On pelvic examination, enlarged uterus without a palpable adnexal mass was detected. The vaginal wall showed no abnormalities. Portio vaginalis could not be detected, so the endometrial Pap smear could not be done. Magnetic resonance imaging revealed an enhanced mass, 8 cm in size, in the uterine corpus cavity, possibly representing malignant tumor. CT scan demonstrated ascites and no lymph nodes were detected. CT and ultrasonography revealed no abnormalities in the liver or bile duct. The serum AFP level was elevated (401 ng/ml), but no elevation of other markers, such as carcinoembryonic antigen or carbohydrate antigen 125, was observed. The blood count and serum biochemical data were unremarkable. From these results, malignant uterine tumor was highly suspected. A total abdominal hysterectomy with bilateral salpingo-oophorectomy and pelvic washings was carried out. The resected uterus was enlarged and filled with a spongy material. There was no apparent extrauterine extension of the tumor. A partially necrotic polyp, 8 cm in size, was present within the endometrial cavity, which infiltrated into the myometrium for about two-thirds of its thickness but did not invade the cervix. Cytology of the pelvic washings was negative. Histologically, the tumor was composed of carcinomatous and sarcomatous components (fig. 2a). The carcinomatous component was an endometrioid adenocarcinoma with trabecular hepatoid cells, mostly showing hepatocellular carcinoma-like proliferation. Immunohistochemistry also revealed AFP-positivity in many tumor cells (fig. 2b).\nThe sarcomatous component showed rhabdoid features including spindle-shaped tumor cells. Occasional cells with eosinophilic cytoplasm and cytoplasmic cross-striations were identified. Immunohistochemistry showed focal positivity of tumor cells with desmin, MyoD1, and CD10. On pathologic examination, the tumor was interpreted as being a heterologous uterine corpus carcinosarcoma associated with AFP-producing hepatoid adenocarcinoma.\nWe did not carry out any adjuvant chemotherapy or irradiation because of the patient's advanced age, in addition, she and her family refused these therapies. Two months after the surgery, the patient's serum AFP level decreased to a normal level. However, multiple lung metastases with a high-serum AFP level reappeared and the patient died 1 year after the operation.",
"gender": "Female"
}
] |
PMC3134036
|
[
{
"age": null,
"case_id": "PMC9184873_01",
"case_text": "The characteristics of patients are outlined in Table 1. Twenty of the 34 MM patients were females and 14 were males, the median age was 73,2 years (range 64.6-80.3) and the median time from diagnosis of MM to the first treatment with daratumumab was 37 months (range 235-3). Cytogenetic characteristics were obtained from only 7 patients, of these only one was unfavorable. Each patient received one line of therapy and 6 (14,7%) patients received two lines or more. All 34 RRMM patients received a previous bortezomib-based therapy in which bortezomib was given with dexamethasone alone (3 cases) or combined with melphalan (16 cases) or with thalidomide (15 cases). In addition, 4 patients received lenalidomide, 3 patients received pomalidomide and 1 patient received Carfilzomib. Before DRd, seven patients (20,6%) underwent to a prior autologous stem cell transplantation (ASCT), that it is consisted in a single ASCT in 5 patients and in a double ASCT in the other 2 cases.\nSixteen patients (47%) presented one or more comorbidities: cardiovascular diseases (11), solid tumors (4), metabolic disorders (3), other hematological disorders (2), rheumatological diseases (1), pulmonary diseases (1), neurological diseases (1) and gastrointestinal diseases (1).\nTwelve patients (36%) were refractory to the previous therapy. Eight patients (23,5%) presented with anemia (Hb < 10 g/dl), 3 (8,8%) with chronic kidney disease (creatinine > 2 mg/dl), 19 (55,9%) with bone lesions, while none of the patients presented with hypercalcemia (Ca2+ > 11 mg/dl). Among the 34 patients, 18 (53%) had a monoclonal component (CM) > 2 g/dl and 18 patients (53%) had a Bence-Jones proteinuria.\nAll RRMM patients received daratumumab IV at the standard dose of 16 mg/kg whereas in 30 (88,3%) patients it was combined with lenalidomide and dexamethasone (DRd) and in the remaining 4 cases (11,7%) with bortezomib and dexamethasone (DVd). A median number of 8 cycles (range 1-32) was administered within a median follow-up of 16 months (range 1-35). Among DRd treated patients, the lenalidomide starting dose was reduced in 12 patients (35%) according to the renal function or due to neutropenia or thrombocytopenia. At the time of analysis, 25 (73,5%) patients were currently receiving treatment. Nine patients (26,5%) discontinued treatment for progressive disease (8 patients) and intolerance (1 case).\nPatients who received at least two doses of daratumumab-based triplets were included in the statistical analysis. Progression-free survival (PFS) and overall survival (OS) were calculated using the Kaplan-Meier product-limit estimator.\nThe overall response rate (ORR) was 88%. A Complete Response (CR) occurred in 12% of cases, a Very Good Partial Response (VGPR) in 44%, and a Partial Response (PR) in 32%. The Median time to achieve at least a PR was 40 days (range 30-110 days). Progressive disease was observed in 8 patients (23,5%), in which 5 cases (14,7%) led to death. Twenty-six patients (76,4%) were responding to treatment at the time of analysis.\nMoreover, 4 transplant-eligible patients, however refractory to the VTD scheme after a median of 6 cycles of daratumumab, deepened their response, allowed themselves to receive an ASCT, and then continued DRD therapy. One of these four patients progressed and died within 100 days after the transplant.\nAdverse events are summarized in Table 2. The most common hematological toxicities of any grade were neutropenia (15 patients; 44%), managed with lenalidomide dose reduction, and thrombocytopenia (10 patients; 29%). Other common non-hematological toxicities of grade 1 involved 10 patients (29%), including asthenia, light-headedness and breathlessness, edema of lower extremities, intestinal intolerance with diarrheal episodes, and epigastralgia. Two patients (5,4%) presented pulmonary AEs, one case with pneumonia and the other case with a chronic obstructive pulmonary diseases (COPD) exacerbation. The only grade 4 AE case was observed at the beginning of the third cycle and consisted of intolerance with persistent gastrointestinal disorders that required patient hospitalization leading to a discontinuation of the therapy.\nAfter an extensive oral premedication of our patients consisting of cetirizine dihydrochloride 10 mg, montelukast 10 mg, paracetamol 1000 mg and dexamethasone 20 mg that was administered once/daily from the day before to the day after the infusion, we observed a DARA infusion-related reactions (IRRs) in only 3 patients (8,8%). All IRRs were a grade 1 - 2 and occurred during the first infusion, with urticaria, tachycardia, and respiratory symptoms, such as bronchospasm and dyspnea.\nAt a median follow-up of 16 months (range 35 - 1), the median PFS and OS have not been reached (NR); the 12-month PFS and OS rates were 78% and 86,5%, respectively (Fig. 1. A and B). In the univariate analysis, the achievement of at least a VGPR, receiving just one line of previous therapy and the male gender resulted in a statistically significant better PFS (Fig. 1. C, D, and E), whereas the absence of anemia at the start of the daratumumab-based triplets and the achievement of at least a VGPR predicted a better OS (Fig. 1. F and G).\nIn the multivariate analysis, only the achievement of at least a VGPR resulted as an independent predictor of prolonged PFS, showing an HR of 0.037 (95% CI of 0.0001-0.988; p= .049). Interestingly, other potential predictors of unfavorable prognoses, such as the condition of early or late relapse, did not impact patients' clinical outcomes after DRd.\nIn the present series, 4 patients received DVd because they were previously exposed to lenalidomide. Compared to the DRd treated patients, they showed a worse PFS and a similar OS. Once again, the small number of cases did not allow conclusions to be drawn concerning this issue. Apart from the daratumumab triplet used, many other factors may have contributed to the worse outcome of these four patients, as for example, the fact that they all had received more than one line of previous therapies.",
"gender": "Female"
}
] |
PMC9184873
|
[
{
"age": 71,
"case_id": "PMC6186336_01",
"case_text": "A 71-year-old female with a history significant for hypertension, hepatitis B, and hypothyroidism, underwent bone marrow biopsy which showed a hypercellular bone marrow with >90% cellularity and 81% myeloblasts expressing CD 34 and CD 117 markers, confirming a diagnosis of acute myeloid leukemia (AML). Molecular testing showed no evidence for FMS-like tyrosine kinase 3 internal tandem duplication, absence of nucleophosmin1 and KIT exon 8, and 17 mutations, suggesting a lower risk of relapse after chemotherapy. Based on cytogenetic studies, secondary AML was diagnosed. Given her advanced age, decitabine therapy was commenced. A baseline 2-D transthoracic echocardiogram (TTE) showed normal function with an ejection fraction (EF) of 55-60%. After completing 10 cycles of decitabine, she was noted to have a tachycardia and dyspnea by self-report. She was therefore referred to cardiology with these symptoms in preparation for allogeneic stem cell transplant.\nThe heart rate was 110/min, and a 2/6 ejection systolic murmur and a loud P2 with an S3 and S4 gallop were heard. Lungs were clear. No jugular venous distension or pedal edema was noted.\nLaboratory data is significant for a serum creatinine level of 0.8 mg/dl, estimated glomerular filtration rate of 80 ml/min per 1.73 m2, and N-terminal pro-b-type natriuretic peptide level of 517 pg/ml. Her complete blood count showed a white blood cell count of 12.6 x 109/l with greater than 50% blasts, low hemoglobin at 7.8 g/dl, hematocrit value of 25%, large platelet count of 212 x 109/l, and lactate dehydrogenase level of 588 U/l. Serum troponin or creatinine phosphokinase levels were not performed due to a lack of discernibility in patients undergoing chemotherapy for cancer. Echocardiogram showed severe left ventricular systolic dysfunction (EF 28%), mildly abnormal end systolic dimension (Figure 1), and a mild reduction in right ventricular systolic function. Global averaged left ventricular longitudinal peak systolic strain was abnormal at -12% (normal more negative than -18%) (Figure 2). Nuclear stress test showed no evidence of coronary disease. Patient was euthyroid at the time of diagnosis.\nThe patient was diagnosed with New York Heart Association class II and American Heart Association stage B heart failure with reduced ejection fraction. In the absence of any viral illness, toxins, or coronary disease, or concomitant cardiotoxic medication use and known recent normal ejection fraction, the etiology was attributed to decitabine use. The patient was subsequently started on metoprolol succinate 50 mg twice a day and furosemide 20 mg daily. Follow-up echocardiogram 4 weeks later showed no change in the ejection fraction of 28%, but there was mild improvement in the global left ventricular longitudinal peak systolic strain at -15% (improved from -12%).",
"gender": "Female"
}
] |
PMC6186336
|
[
{
"age": 24,
"case_id": "PMC9937515_01",
"case_text": "A 24-year-old female was brought to the emergency department with complaints of altered mental status and recurrent seizures associated with low-grade fever, headache, and altered sensorium for the last three days. The seizure was acute in onset, generalized tonic-clonic in nature, and associated with tongue biting, blood-tinged frothing, and urinary incontinence. It was her second episode of abnormal body movement and altered sensorium after being admitted to the hospital. Each episode lasted for 20-30 minutes. She returned from a hill station a few days ago, and her family and social history were insignificant.\nOn admission, the patient was afebrile, with a blood pressure of 110/70 mmHg, a Spo2 of 97%, and a heart rate of 86/min. Her physical examination revealed a Glasgow coma scale (GCS) score of 11 (eye: 4, verbal: 2, motor: 5). Her rest systemic examination was unremarkable. Her initial laboratory investigations were within normal range except for mild elevation of transaminases (Table 1). Further evaluation with a non-contrast computed tomography (CT) head shows a ring-enhancing lesion in the left temporal region with perifocal edema, an eccentric, and an inflammatory granuloma (Figure 1). In addition, magnetic resonance imaging (MRI) brain showed a well-defined rounded discrete hyperintense lesion in the left parietal region with mild to moderate vasogenic edema, leading to partial effacement of the adjoining sub-arachnoid space and moderate peripheral rim enhancement (Figure 2). On follow-up after two weeks, an MR venogram revealed that the left transverse sinus was hypoplastic, as shown in Figure 3.\nFollowing confirmation of diagnosis, the patient was started on albendazole 400mg twice daily and carbamazepine. However, on follow-up after two weeks, the patient developed skin rashes, remarkably elevated liver enzymes, and total bilirubin (Figure 4).\nAfter proper evaluation, immediately anti-epileptic drugs were discontinued, and for skin rashes, the patient was given oral fexofenadine and methylprednisolone, levetiracetam beside topical steroids. On subsequent follow-up, her rashes and deranged aminases resolved, and the patient was doing well.",
"gender": "Female"
}
] |
PMC9937515
|
[
{
"age": 0,
"case_id": "PMC10196249_01",
"case_text": "A 27-day-old boy presented to the emergency room with a 7-hour history of fever. After giving superficial skin cooling at home, the baby remained febrile. The peak temperature was 38.5 C. The baby had a poor appetite and symptoms of sneezing and a stuffy nose without vomiting and coughing. He was a term baby without extraordinary perinatal history. His parents had a history of sore throat and cough for several days during the Omicron epidemic, but they didn't test for SARS-CoV-2. After admission to our NICU, he was febrile at 38.3 C with a respiratory rate of 52 breaths/min and oxygen saturation of 95%-99% while breathing ambient air. His examination was remarkable for congested nares, clear rhinorrhea, and mild subcostal retractions. There were coarse breath sounds in all lung fields. No murmur of the heart could be heard. The liver was palpated at 1 cm-2 cm under the costal margin (consistent with age), and the spleen was not palpated. Laboratory data revealed that the total WBC count and the proportions of the major leukocyte subsets in peripheral blood were normal. Blood gas, C reactive protein (CRP), and transaminase levels were in the normal range. RNA test for SARS-CoV-2 from a throat swab was positive. Then, the baby was given physical cooling and nasal secretion removal to keep the airway clear (see Table 1).\nThe baby presented febrile once daily in the following four days, and the peak temperature decreased from 38.4 to 38 C. Meanwhile, he developed a cough and sputum, along with a dropping of SpO2 to 80% when feeding. His lung demonstrated scattered crackles (see Figure 1). Because of continuous fever and pneumonia, more investigations were performed. The total WBC count and the proportions of the major leukocyte subsets were still in the normal range. CRP was 4.3 mg/L (0-10 mg/L). Anemia was noticed: RBC was 2.73 x 1,012/L, hemoglobin was 91.0 g/L, and hematocrit was 27.4%. Alanine transaminase (ALT) was 88 U/L(<=41 U/L), aspartate transaminase (AST) was 180 IU/L(<=40 U/L), and glutamyltranspeptidase (gamma-GT) was 109 U/L(6-42 U/L). Further, pathogens tests identified that parainfluenza virus RNA was positive, but there was no evidence of infection for other pathogens such as RSV, EBV, TORCH, ECHO virus, Coxsackie virus (CA16/CVB), influenza A/B/H1N1/H3N2, adenovirus, mycoplasma, chlamydia, HIV, Human metapneumovirus, rhinovirus, and hepatitis B/C virus. Ultrasonography for the heart and abdomen was normal. Therefore, the baby was given the nebulization treatment of budesonide and ipratropium bromide solution and given Glutathione for hepatoprotection. In addition, he inhaled oxygen intermittently to avoid hypoxia when feeding.\nOn the 7th day after admission, the patient was no longer febrile but was still coughing and had nasal congestion. On the 10th day, respiratory symptoms improved greatly, and we re-tested the liver function after 5 days of hepatoprotective treatment. The transaminase level elevated markedly. ALT was up to 645 U/L(<=41 U/L), AST increased to 480 IU/L(<=40 U/L), and gamma-GT was 491 U/L(6-42 U/L). However, bilirubin, blood ammonia, blood glucose, lipids, lactate, coagulation function, and albumin levels were within the normal range. The patient's perinatal medical history and family history were tracked carefully, and the possibility of inherited metabolic liver disease was ruled out. Furthermore, the patient's history of drug exposure before/after admission was also reviewed, and there was no evidence of drug-induced liver injury. So, virus infection may contribute to liver injury and the elevation of transaminase levels. When the immune system clears the virus, the injury should be alleviated. Thus, we only administered glycyrrhizin and bicyclol to promote recovery.\nOn the 14th day, the baby looked well with the normal physical examination. Laboratory tests demonstrated that ALT decreased to 125 U/L(<=41 U/L), AST was 44 IU/L(<=40 U/L), and gamma-GT was 283 U/L(6-42 U/L). He continued to take glycyrrhizin and bicyclol after being discharged home. The liver transaminase level returned to normal on 8 and 15 days after discharge (see Table 2 and Figure 2).",
"gender": "Male"
},
{
"age": 0,
"case_id": "PMC10196249_02",
"case_text": "A 7-day-old girl was admitted to our NICU because of a 30-hour intermittent fever with a peak temperature of 38.5 C. Her parents noted that she had a stuffy nose with clear rhinorrhea and choked when feeding over the past two days. She coughed occasionally but had sputum in her throat. Her appetite was unchanged without increasing work of breathing, vomiting, and diarrhea. Her caregivers had confirmed infection of SARS-CoV-2 several days ago. Her mother was healthy during pregnancy but detected fetal hydronephrosis with the right duplex kidney in the third trimester. The baby was born through an uneventful C-section delivery at a gestational age of 40w+6. The baby looked well after birth, and there was no evidence of early-onset sepsis. On physical examination, she had a temperature of 38.6 C and mild tachypnea of a respiratory rate of 50 breaths/min without retraction. Her lungs demonstrated coarse breath sounds without crackles and wheezes. The lab investigations showed that CRP was increased to 19.8 mg/L(0-10 mg/L) (see Table 1).\nWBC, blood gas analysis, transaminase level, and bilirubin levels were all in the normal range. The blood culture for bacteria was negative. Chest x-rays suggested increased and blurred bilateral lung markings in both lung fields (see Figure 1). Cardiac ultrasound demonstrated a left-to-right shunt of 2.6 mm through a patent foramen ovale (PFO). Abdominal ultrasound showed mild bilateral hydronephrosis and calculus in the right kidney (3.1 mm x 2.7 mm), and there were no abnormalities in the liver, gallbladder, and spleen structures. PCR and quick antigen tests for SARS-CoV-2 from the throat swab were positive. There was no evidence of infection from other viruses [RSV, EBV, TORCH, ECHO virus, Coxsackie virus (CA16/CVB), influenza A/B, adenovirus, mycoplasma, chlamydia, HIV, Human metapneumovirus, rhinovirus, and hepatitis B/C virus]. Normal saline helped to clean the airway, and nasal drops were used to relieve nasal congestion. Moreover, superficial skin cooling was given when the baby was febrile, and piperacillin/tazobactam was administered for pneumonia.\nThe baby's body temperature declined to normal on the 2nd day after admission. The respiratory symptom alleviated over the following days. On the 6th day, the laboratory tests showed that the transaminase level increased significantly without abnormality of bilirubin and albumin (see Table 2 and Figure 2). Then, the hepatoprotective treatment of glycyrrhizin and bicyclol was administered.\nALT decreased by half on the 11th day. Given that the baby had recovered from fever and respiratory symptoms, she was discharged home with oral drugs of glycyrrhizin and bicyclol and was continued to be followed up in the outpatient department. Two weeks later, lab tests suggested that ALT and AST decreased to the normal range.",
"gender": "Female"
},
{
"age": 0,
"case_id": "PMC10196249_03",
"case_text": "A 15-day-old girl was brought to the emergency center with a 2-day recurrent fever after contracting confirmed cases of COVID-19. The peak temperature was 38.1 C. Besides fever, she had a stuffy nose and a mild cough. She did not develop diarrhea and vomiting during the course. She had no complicated perinatal history. Her examination was febrile at 38.1 C with a respiratory rate of 48 breaths/min and oxygen saturation of 98%-100%. She had normal respiratory effort, and coarse breath sounds could be heard in all lung fields. Lab data of the WBC, CRP, blood gas, transaminase levels, and bilirubin levels were all in the normal range. The PCR test was positive for SARS-CoV-2 without other positive findings of other pathogens [RSV, EBV, TORCH, ECHO virus, Coxsackie virus (CA16/CVB), influenza A/B, adenovirus, mycoplasma, chlamydia, HIV, Human metapneumovirus, rhinovirus, and hepatitis B/C virus]. After admission, the baby was given the nebulization treatment of budesonide and ipratropium bromide, using normal saline and nasal drops to relieve nasal congestion and keep the nasal cavity clean (see Table 1).\nThe baby returned to normal temperature and developed frequent coughs over the days. Her lung examination demonstrated scattered crackles on the back side, and then, phlegm and wheezing sounds could be heard in the following days. Chest x-rays showed that bilateral lung markings increased and blurred, with patchy shadows on the right upper lung field (see Figure 1). The piperacillin/tazobactam for pneumonia was administered on the fourth day after admission. Since then, her symptoms and signs of respiratory improved gradually.\nThe baby got better on the 6th day after admission with wild nasal congestion. Laboratory tests showed that ALT and AST increased significantly (see Table 2 and Figure 2). She was also administered hepatoprotective treatment of glycyrrhizin and bicyclol. After a 2-week treatment, the liver function recovered totally.",
"gender": "Female"
},
{
"age": 0,
"case_id": "PMC10196249_04",
"case_text": "A 24-day-old boy was admitted to the NICU for an 8-hour history of fever with a peak temperature of 38 C. The parents complained that the baby had a mild cough with sputum, and they noticed he seemed to have facial and lip cyanosis when feeding. The baby was lethargic and had a poor appetite, accompanied by watery diarrhea without emesis. He was born at a gestational age of 36w+4 via cesarean delivery. He had no remarkable perinatal history. His mother confirmed COVID-19 with fever and cough before he had symptoms. On physical examination, his temperature was 38 C with a respiratory rate of 46 breaths/min; blood pressure was in the normal range, and his SpO2 was 97% while feeding and breathing ambient air. Coarse breath without crackling sounds in all lung fields could be heard. No heart murmur was detected. Prominent reticulated mottling of the skin could be seen on the lower extremities, especially when he was febrile. Capillary refill time in the lower extremity was 2 s. The liver was palpated at 1 cm under the costal margin, and the spleen was not palpated. Laboratory data revealed that WBC, subsets proportion, CRP, procalcitonin (PCT), blood gas, electrolytes, transaminase, and bilirubin levels were all in the normal range. Blood culture was negative. No other apparent abnormalities were reported on the routine stool test. PCR test for the SARS-CoV-2 virus was positive. The common respiratory pathogens such as influenza A/B, RSV, parainfluenza, adenovirus, mycoplasma, and chlamydia were negative. Chest x-rays showed that bilateral lung markings increased and blurred (see Figure 1). The cardiac ultrasound was normal. The CRP tests were repeated, and sepsis was ruled out in the next few days. So, the baby was administered piperacillin/tazobactam for 36 h and nebulization treatment was given (see Table 1).\nThe fever lasted for 2 days, and the peak temperature was 38.6 C. The baby recovered with occasional cough and mild nasal congestion on the 5th day after admission. On the 6th day, the ALT and AST were significantly increased (see Table 2 and Figure 2). There was no evidence of infection for other pathogens related to liver injuries such as EBV, TORCH, ECHO virus, Coxsackie virus (CA16/CVB), and hepatitis B/C virus. He was also administered hepatoprotective treatment of glycyrrhizin and bicyclol.\nThe baby received hepatoprotective treatment for 5 days. On the 11th day after admission, repeated lab tests demonstrated that ALT and AST decreased to 97 U/L and 40 IU/L, respectively. Then he was discharged with hepatoprotective drugs. 4 days after discharge, the liver function went back to the normal range.",
"gender": "Male"
}
] |
PMC10196249
|
[
{
"age": 5,
"case_id": "PMC4122203_01",
"case_text": "Gloria lived in an intact family with her parents and three younger siblings until her parents divorced at age 5, but she provided no details about her childhood before this time and would not speak at all about her biological father. Gloria and her siblings lived predominantly with their mother after the divorce. Her mother remarried 5 years later when Gloria was 10 years old and she viewed her stepfather as her \"actual\" father. She described him as being humorous, loved, and trusted, but she also described him impulsive, irascible, and argumentative. Gloria seemed insecure about her stepfather's acceptance, wondering how far she could push him before he would break. Would he accept her even if she acted like a wild child? Gloria stated that \"once a week I pushed him until he burst,\" and she told how she tested him with \"mischievousness\" so as to push her stepfather into beating her. Gloria's deliberate misbehavior and her stepfather's beatings were central to their relationship.\nGloria's first major traumatic experience as a sadistic rape in late adolescence. The only details that she provided about her rape was that it occurred during daytime and that she did not know the rapist. After the rape, she began around 3 weeks later to have sudden headache and fainting attacks, fainting as much as three times a day. She also developed chronic dissociation experiences. Gloria's symptoms appeared to be associated with feeling of being exposed and to school or performance-related pressure. Although these problems persisted, she did not seek psychological treatment. Her symptoms, especially fainting, diminished when she studied abroad. Her symptoms reoccurred after returning home 2 years later, however, and she decided to go back abroad.",
"gender": "Female"
},
{
"age": 30,
"case_id": "PMC4122203_02",
"case_text": "Gloria's second major traumatic experience was at 30 years old when her boyfriend of 2 years died in an accident. Gloria had separated from him shortly before his death, the reason being that she was no longer able to tolerate physical closeness. She felt severely guilty about his death and her guilt had masochistic qualities. As a result, she did not have another intimate relationship for many years.\nGloria had recently experienced a third trauma prior to her decision to seek treatment. She had been in a serious accident in which she had been thrown out of her car and into the air rendering her unconscious. She was thought at first to be dead. Her physical injuries included three spinal discs and a strain on the cervical spine and her fainting episodes increased to many episodes a day. Although Gloria reported in her initial interview, almost proudly, saying \"I survived this,\" and she had since was unable to work.\nGloria felt that her symptoms had become debilitating, and she noticed that her fainting spells seemed related to stress. Her headaches had become so severe that she risked becoming unconscious. She was not able to recall what preceded the headaches and she could not remember any indicators associated with their onset, such as less debilitating headaches or other physical warning signs. Gloria described herself as being on autopilot. This \"defensive mechanism\" had saved her life more than 20 years ago, but now this automatic mechanism was out of her control.\nGloria had not allowed herself to think about this until she entered treatment and her treatment goal was \"to get rid of it.\" She had a stiff commitment to being strong and carrying on. \"I want to function. I will get through this. I want to be able to work. I have worked for many years to wipe out the traumatic event, to get rid of it, to repress it.\" This perspective had dominated her life and kept her moving forward. She was frightened of not being able to be in control of her symptoms and the prospect of becoming dependent on the pain medication prescribed to combat her severe headaches.\n was a prominent psychoanalyst to use ethological concepts to describe the infant's biologically predisposed attachment to a primary caregiver. He viewed relatedness in early childhood as a primary and independent developmental goal that is not subservient to a physiological needs (e.g., hunger) or psychoanalytically defined primary processes. The infant is perceived from an interactional perspective, with a focus on the relationships with primary attachment figures. Attachment theory maintained some foundations of psychoanalytic theory (e.g., the developmental point of view) and there is a strong literature that discusses the divergences and convergences of psychoanalysis and attachment theory (e.g.,) and also developed some aspects further, particularly the delineation of the internal world.) overview of the intersection of these two approaches demonstrated that the relationship between attachment theory and psychoanalysis is more complex than adherents of either community have generally recognized. This paper addresses some of these complexities by integrating attachment assessment using the Adult Attachment Projective Picture System (AAP) in psychodynamic psychotherapy in an adult traumatized patient.\n proposed that one major difference between psychoanalysis and attachment theory falls in the description of forms of defensive processes. Traditional psychoanalytic models provide a complex constellation of defenses to interpret a broad range of intrapsychic phenomenon, including phantasy, dream, wish, and impulse (e.g.,). Attachment theory delineates two basic processes that manifest in three forms. According to), Bowlby defined defense as forms exclusion directed to modulating difficult and anxious experiences with attachment figures, and the child's experiences with incomplete or failed bids for parental protection, care, and comfort. He defined defenses in terms of two qualitatively distinct processes: deactivation (retaining elements of intellectualization and denial) and cognitive disconnection (retaining elements of splitting).) pointed out that under normal circumstances these two exclusion processes are associated with goals to maintain physical and psychological proximity in the attachment-caregiving relationship under conditions when the child's experiences with the attachment figure are less than satisfying. George and Solomon refined model suggesting that deactivation and cognitive disconnection organized and supported at least minimal forms of representational, behavioral, and emotional regulation. proposed that these forms defensive exclusion functioned to segregate (akin to repression) memory, affect, and experience when the attachment figure was not available, conceiving of an extreme process he termed \"segregated systems.\" Segregated systems were thought as associated with the painful and chronic distress experiences, such as those that accompany loss. Bowlby posited that segregated systems were the intrapsychic root of symptoms related pathological mourning and severe psychopathology. Attachment theorists have since demonstrated that segregated systems are associated with experiences of failed protection, attachment trauma, and disorganized/dysregulated attachment behavior and representation.\nConsistent with a psychoanalytic approach, some attachment theorists have suggested that utilization of defensive process models is needed to provide a complete picture of the emotional and behavioral regulation processes individuals develop from their childhood relationships with attachment figures. Further, concluded, \"In order to understand the relationship between adult attachment and mental health risk we need to examine the attachment concepts of defense and segregated systems, the mental processes that define disorganization\" (p. 295). These theorists operationally defined basic defense scheme as a central element for evaluating representational patterns of attachment using the Adult Attachment Projective Picture System. Suggesting that these representational structures have developed under conditions of attachment trauma (abuse, loss, failed protection), the concept of segregated systems is fruitful to explain some forms of relationship-based psychopathology in adults.\nThe discussion that follows provides some ideas about using attachment concepts in clinical work by showing how the perspectives of a psychoanalyst and attachment assessment may improve the understanding of an individual case of a traumatized patient with the diagnosis of a PTSD with dissociative states (e.g., fainting in response to stressful situations).\nThe lifetime prevalence of PTSD in Germany has been found to be 1.3% with a female-to-male ratio of 3.25-1. Traumatized patients are frequently misdiagnosed and mistreated in the mental health system. The number and complexity of the symptoms lead to fragmented and incomplete treatment. PTSD patients are vulnerable to become re-victimized by caregivers because of their difficulties with close relationships. Severely traumatized PTSD patients (complex trauma) develop difficulties in modulating arousal and show signs of severe affect dysregulation (e.g., aggression against self and other, and problems with social attachment and dissociative states).\nDissociation, defined as a deficit of the integrative functions of memory, consciousness and identity, is often related to traumatic experiences and traumatic memories. During clinical interviews, dissociation is suggested either by such a degree of unwitting absorption in mental states that ordinary attention to the outside environment is seriously hampered. Dissociation can be accompanied by a sudden lack of continuity in discourse, thought or behavior of which the person is unaware (supposedly due to intrusion of dissociated mental contents in the flow of consciousness). Thus, for instance, a dissociative patient may suddenly interrupt her speech during a therapeutic session, stare into the void for minutes, and become unresponsive to the therapist's queries as to what is happening to her. Or a patient suffering from PTSD may suddenly utter fragmented and incoherent comments on intrusive mental images (usually related to traumatic memories) that surface in consciousness and hamper the continuity of the preceding dialog with the therapist. In the most extreme variety of dissociation (Dissociative Identity Disorder), an alternate ego state may appear during the clinical dialog, reporting (sometimes with an unusual tone of voice, e.g., like a child) memories of childhood abuse of which the patient has previously been totally unaware, or expressing attitudes and beliefs quite extraneous to the patients' personality.\nFurthermore, shattered meaning propositions predominate. Trust, hope and sense of agency is accompanied by social avoidance, with loss of meaningful attachment and therefore lack of participation in preparing for future.\nThe founding premise of attachment theory is that stress, especially traumatic stress, produces a strong desire for proximity to and comfort by attachment figures; this desire is built into human biology as a survival safety mechanism and the mechanism is functions unchanged throughout the life span. Attachment experience shapes the ways in which individuals manage stress and are especially important when individuals experience a traumatic event. When attachment is secure, individuals know how and when to seek attachment figures and develop internal representations of self as deserving of care. Attachment security fosters confidence and trust that figures are available, empathic, and sensitive to their needs; security is a buffer or resilience factor that supports recovery from trauma. When attachment is insecure, emotional and behavioral reactions when distressed may be made even more painful by unconscious evaluations that wishes for comfort are illegitimate. Insecurity may result in additional painful interactions with the attachment figures rather than the functional comfort and protection for which attachment was intended. Insecurity fosters anxiety, anger, and fear, and increases the risk of developing trauma-related emotional disorders. Extreme forms of insecurity are associated with the breakdown of attachment and caregiving regulatory mechanisms risk emotional and homeostatic dysregulation, often termed disorganized attachment. The risk of dysregulation is heightened when attachment relationships are threatened or threatening, such as parental loss or psychiatric debilitation or maltreatment. defined events such as these as attachment traumas, events that involve terrifying threats to the integrity of self or attachment relationships. Attachment disorganization, conceived in terms of mechanisms of dysregulation and attachment trauma, has been shown to predict vulnerability to severe psychiatric symptomology, including dissociative symptoms.\n found the metaphor of a \"drama triangle\" useful in thinking about the intersection between dissociation and disorganized attachment. The dissociation triangle addresses how disorganized attachment fosters dissociative mechanisms that create incompatible and separate representations of self as victim, rescuer, and persecutor. The child's representation of the attachment figure is represented in a conflicting manifold way. On the one side, the attachment figure is represented as source of the child's fear, the self as a victim of attachment figure as persecutor. On the other side, the attachment figure by virtue of being the child's biological protector is viewed as the child's source of safety and protection (rescuer). In the child's mind, representation of self and attachment figure shift among these three incompatible models that are too complex to be synthesized into an integrated model of self. Liotti's model provides us with an integrated psychodynamic and attachment approach to our first questions concerning Gloria's illness, questions regarding the childhood origins of her episodes of near unconsciousness and her inability to ask for help following traumatic assault.\n examined cognitive perspectives on unresolved attachment in patients diagnosed with PTSD. They proposed that unresolved loss, as defined in attachment assessment during interview, involves intrusion avoidance phenomena similar to those of PTSD. Specifically, they develop a model based on unresolved loss that involves the failure to integrate representations of self and the world following a loss. The features of unresolved loss can be understood as emerging as a result of the activation of unintegrated representations of the loss experience and cognitive and behavioral avoidance processes. In this model, the sudden intrusion of memories, cognitions, and emotions associated with the loss automatically captures attention and initiates behavioral dispositions that are incompatible. With regard to attachment, the authors suggested that this was the mechanism that interfered with caregiving behavior. Lack of attentional resources and incompatible response tendencies can also result from safety behaviors directed at avoiding the perceived negative consequences of activating trauma memory. The authors proposed that these processes offer a novel way of understanding the disturbances in behavior and speech that are evident in mothers who are designated as unresolved with respect to loss.\nThis suggests that representational attachment measures, like the AAP, can provide a good understanding of the movement that the client might be making toward empowerment, integration, or understanding. Thus, even if a patient's overall attachment is unresolved (i.e., dysregulated), there may be indications in their responses to the AAP stimuli that suggest they are moving toward mental organization. Given the negative outcomes that are associated with abuse, focusing on resources and defensive strategies is arguably important for therapeutic recommendations.",
"gender": "Female"
}
] |
PMC4122203
|
[
{
"age": 20,
"case_id": "PMC7174775_01",
"case_text": "The DMD participants had different levels of hand function. Participant one (DP1, 20 years old) was able to use his hands functionally, and no contractures relevant to hand/wrist movement were observed. Participant two (DP2, 22 years old) was able to functionally use his hand but experienced a decrease in strength and minimal contractures relevant to hand/wrist movement. Participant three (DP3, 25 years old) was not able to use his hands at all and was affected by immediate onset of fatigue during its use. Extensive contractures relevant to finger movement were observed, and only minimal movement of the fingers was possible (see Supplementary Video). All participants were able to perform the experimental protocol.\nThe Medical Ethics Committee of Twente approved the study design, the experimental protocol, and the procedures (Protocol number: NL59061.044.16). The study was conducted according to the ethical standards given in the Declaration of Helsinki in 1975, as revised in 2008.\nThe experimental setup (Figure 1) included several components, and it was designed to record HD-sEMG signals from the forearm in a repeatable and systematic way. Muscular activity was measured with a 128-channel amplification system (REFA 128 model, TMS International, Oldenzaal, The Netherlands). We used 64 monopolar electrodes around the forearm to acquire the raw sEMG signals. The signals were recorded with a decimal gain of 26.55 before the analog-to-digital converter (ADC); however, this gain factor is compensated by the acquisition software (Polybench, TMS International, Oldenzaal, The Netherlands), after the ADC. Additionally, REFA includes a first-order analog low-pass filter placed before the ADC with a -3 db point at 6.8 kHz. The 6.8-kHz low pass helps to make the REFA immune to high-frequency electromagnetic interference such as mobile phone networks. The analog signals were sampled with a frequency of 2,048 Hz and digitally converted with a 24-bit conversion (a resolution of 0.018 muV per bit, 300 mV dynamic range). The ADC of the device has an anti-aliasing digital low-pass filter with a cutoff frequency of 0.2 * sample frequency. This filter inside the ADC is used to convert the 1-bit signal with a high frequency into a 24-bit signal with a lower frequency. The acquisition software was executed in a host laptop (Lenovo Thinkpad T490, Lenovo, Beijing, China) with a Windows 10 operating system (Microsoft Corporation, Washington, USA). A computer screen was used to provide visual feedback of the task to the participants.\nElectrode placement and configuration were based on previous work that normalized the electrode locations to each participant's arm circumference in order to account for different forearm thicknesses (Table 1). The inter-electrode distance in the longitudinal direction of the forearm was kept constant at 2 cm for covering the entire forearm.\nFirst, we cleaned the skin of the dominant forearm of the participant with alcohol. Then, we measured the forearm length from the lateral epicondyle until the styloid process of the ulna and the forearm circumference at 20% of the forearm length from the elbow (Figure 1). The participant had to wear a perforated sleeve (Figure 1) with equally placed holes and elastic only along the circumferal direction to ensure that the electrode placement was standardized for all participants. We used a non-permanent marker to mark the skin of the participant (Figure 1) and then visually inspect the markings before applying the electrodes.\nConductive gel was applied to each of the 64 electrodes with a syringe, and they were subsequently attached to the forearm. The first row of electrodes was placed above the imaginary line between the lateral epicondyle and the styloid process of the ulna and the last row below in such a way that the line lay in the middle between the two rows of electrodes (Figure 1). The first electrode was attached proximally starting at the 20% of the forearm length from the elbow. Electrodes were placed from proximal to distal and in counterclockwise direction (from the perspective of a right-handed participant). This way, electrodes 1-32 were placed over the dorsal side (mostly extensor muscles) and 33-64 over the ventral side (mostly flexor muscles) of the forearm. The reference electrode was placed at the distal end of the forearm, over the head of the ulna.\nParticipants performed seven different gestures involving hand and wrist motions (Figure 2). The chosen gestures included: hand open/close, thumb flexion/extension, wrist flexion/extension, and index extension. These were chosen as they are involved in the most frequent ADL. First, each participant was instructed to perform all gestures without constraints (dynamic) with maximal voluntary effort in a single recording. This way, we recorded the maximum voluntary contraction (MVC) for every electrode across all gestures. For every gesture, 10 repetitions of 3 s contractions were performed, together with 10 repetitions of 3-s resting periods between the contractions (Figure 2). The participants were instructed to perform all movements in a comfortable fashion in order to avoid forceful contractions that may elicit co-contractions of agonist-antagonist muscle groups.\nThe timing of the gestures was dictated with the use of visual feedback. The visual feedback illustrated via photographs of human hands which gesture had to be performed. The sequence of images served to instruct the participant as a metronome when to perform the gesture (image of gesture appearing for 3 s) and when to relax (image of relaxed hand appearing for 3 s). Additionally, the measurements were performed in the morning in order to avoid effects of the end-of-the-day fatigue, especially for the participants with DMD. Furthermore, the participants had short breaks between gestures in order to rest.\nAll signal processing and data analyses were performed in Matlab 2018b software (The MathWorks Inc., USA). The raw sEMG signals were processed offline in order to compute the envelopes for each of the 64 electrodes per gesture and per participant. First, the raw data were filtered with a band-pass filter (fourth-order Butterworth, 20-450 Hz). Additionally, a second-order digital infinite impulse response notch filter (cutoff frequency of 50 Hz, Q factor of 50) was used to remove the power line noise (50 Hz for the EU). Despite its main limitation (signal distortion around the attenuated frequency), notch filtering is the mainstream technique for powerline signal removal, and a narrow bandwidth with a high Q factor can already address this. For highly powerline-contaminated signals, spectral interpolation may be more appropriate. The signals were subsequently rectified and filtered with a low-pass filter (third-order Butterworth, 2 Hz). Our choice for the cutoff frequency was motivated by the low-frequency dynamic tasks involved in this study and our previous study on real-time sEMG control of a hand exoskeleton. The resulting envelopes were visually inspected segmented, according to the acquisition protocol, to 10 contractions and periods (each lasting approximately 3 s) and normalized. A threshold was selected to define the onset of the activity, and the next 3 s after the onset were chosen as a contraction period. The threshold was defined as the time that the signal exceeded 10 standard deviations of the baseline (non-contraction) activity similar to Di Fabio, and the final segmentation was additionally assessed visually. The maximum value of the envelope of each electrode across the complete dataset was used as a normalization value for each electrode. This value was acquired using a moving average window of 1 s in order to account for signal artifacts. Signal quality was visually assessed both in the time and frequency domains, and faulty channels were replaced by linear interpolation of their surrounding neighboring channels (8-neighborhood). Different local conditions were applied to faulty electrodes placed in the longitudinal extremes (<8 neighboring channels).\nEvery 3-s contraction was further segmented in 1-s segments by keeping only the middle second of the contraction (steady-state phase) and discarding the transient phase. For every electrode, the average of this 1-s contraction was calculated and used to construct 10 heatmaps per gesture (Figure 2). For the visual inspection of the forearm activity per gesture, we constructed activity heatmaps by averaging the 10 repetition heatmaps (Figure 3).\nWe analyzed the data to assess HD-sEMG pattern repeatability, peaks, and dimensionality, as well as individuals' potential to generate activation patterns suitable for myocontrol applications for both healthy and DMD participants. The raw data used for this analysis are available online. All signal processing and data analyses were performed in Matlab 2018b software (The Mathworks Inc., USA). In the remainder of this section, we describe a set of analyses aimed at investigating differences between DMD and healthy participants at the level of motor control properties (Motor Control Properties section) and myocontrol performance (Myocontrol Performance section).\nThe degree of repeatability across repetitions per participant was calculated using squared Pearson correlation. Each heatmap (8 x 8) was reshaped into a vector (1 x 64) before the calculation of the squared Pearson correlation. The coefficient was extracted among the 10 repetitions per gesture and per participant. For every gesture, this resulted in 45 unique comparisons between the 10 repetitions and thus 45 coefficients per gesture (Figure 4).\nThe temporal distribution of activations between healthy and DMD was calculated via normalized and absolute activations per repetition of each gesture (Figure 5A). A normalization factor was calculated across all gestures and repetitions. For each gesture, the maximum absolute and normalized value of the 64-electrode heatmap were calculated for every participant and each repetition and plotted.\nFigure 5B shows the average spatial distribution of the healthy and DMD participants. The spatial distribution of the sEMG potentials over the 8 x 8 normalized heatmap was calculated using the center of gravity (COG) by calculating the dorsal-ventral and the proximal-distal position of it as proposed by Elswijk et al.. The COG was calculated over electrodes presenting activations equal or larger than 80% of the maximal value of the heatmap (Figure 3). This way, only clusters of electrodes with a high peak amplitude were considered for the calculation of the COG in order to focus on the most relevant area of activation for each gesture.\nThe 10 heatmaps, one per gesture repetition, were used to construct one single average heatmap per gesture per participant (Figure 3) that was used for the motor control analysis. We quantified differences in dimensionality of orthogonal and uncorrelated sEMG patterns between the healthy and DMD participants via a PCA to the gesture-specific heatmaps per participant. For every participant, we performed a PCA to the concatenation (64 x 70) of the sEMG heatmaps of all gestures and repetitions per participant [64 electrodes x (7 gestures x 10 repetitions)]. The number of PCs needed to reconstruct the original seven gesture heatmaps was identified per participant by means of the variance explained (VE), and it was taken as the number of PCs that summed together explained more than 90% of the total variance. This number was used to explore the repertoire of orthogonal and uncorrelated sEMG patterns produced by the two groups of participants (Figure 6A).\nAdditionally, we calculated the squared Pearson correlation between all the gestures per participant (the same way as we did for the repeatability, Activation Pattern Repeatability Tests section). The coefficient was extracted from the average normalized heatmap of the 10 repetitions per gesture and per participant. For every participant, this resulted in 21 unique comparisons between the seven gestures and thus 21 coefficients per participant. We averaged the correlation values of the healthy participants and the participants with DMD separately to identify which gestures are mostly correlated per population, and we presented this in the form of a similarity matrix (Figure 6B).\nWe explored participants' gesture recognition performance via an offline pattern recognition algorithm applied to the band-pass filtered data (fourth-order Butterworth, 20-450 Hz) of each participant. We used a linear discriminant analysis (LDA) to recognize each of the gestures performed. LDA is a commonly used pattern recognition algorithm for prosthetic control and already commercialized by COAPT LLC (Chicago, USA). We chose it for the ease of implementation, classification speed, and high accuracy compared to other similar approaches. The 10 steady-state segments for every gesture were concatenated and created a 10-s vector. We trained the classifier by extracting four time-domain features from the raw segmented data including mean absolute value, zero crossing, slope sign change, and waveform length. We chose for a feature extraction window of 200 ms (with an overlap of 100 ms), which would be within acceptable range for real-time myoelectric applications. The classifier was validated with a three-split Monte Carlo cross-validation approach. Each time, a different part of the segmented data was used for training (always 70%) and testing (always 30%). The average off-line classification accuracy of these three trainings was used as performance metric per participant. Additionally, we tested how the offline classification accuracy per participant was affected by the number of gestures that had to be classified.",
"gender": "Male"
}
] |
PMC7174775
|
[
{
"age": 58,
"case_id": "PMC7969344_01",
"case_text": "A 58-year-old female presented with complaints of progressive loss of vision and flashes of light in both eyes (OU). Her past ocular history was significant for progressive nyctalopia which was gradually worsening since her childhood. Her past medical history was significant for asthma, depression, musculoskeletal pain, well-controlled hypertension, and hyperlipidemia. Her systemic medications included hydrochlorothiazide, lisinopril, aspirin, albuterol, buspirone, duloxetine, lorazepam, gabapentin, hydrocodone-acetaminophen, tizanidine, and trazodone.\nThe patient's family history of adRP was further explored. Her paternal grandmother and the grandmother's two daughters were affected by RP. She has one son who is also affected with nyctalopia.\nHer best-corrected visual acuity (BCVA) was 20/40 OD and 20/30 OS. Her intraocular pressure (IOP) was 20 OD and 19 OS. Anterior segment examination was unremarkable.\nFundoscopy of the right eye revealed normal optic nerve with a cup-to-disc ratio of 0.1 bilaterally. Examination of the posterior pole revealed perimacular pigmentary changes in a bull's-eye pattern. Large area of retinal atrophy in a doughnut shape was noted around vascular arcades. Attenuated vasculature was noted in the area of the dystrophic retina. Peripheral retinal examination revealed bone spicule pigmentation along the inferonasal quadrant.\nFundoscopy of OS showed similar findings. Bone spicules were noted in the inferotemporal quadrant.",
"gender": "Female"
},
{
"age": 38,
"case_id": "PMC7969344_02",
"case_text": "The patient's 38- year-old son had similar symptoms of nyctalopia since he was a child. His past medical history was unremarkable. He denied distortions, floaters, and flashing lights OU. His past ophthalmic history was unremarkable.\nHis BCVA was 20/40-2 OD and 20/60-2 OS. Her intraocular pressure (IOP) was 20 OD and 19 OS. Anterior segment examination was unremarkable.\nFundoscopy of OD revealed normal optic nerve with a cup-to-disc ratio of 0.1 bilaterally. The fovea was normal. Large area of retinal atrophy was noted along the inferior arcade. An attenuated vasculature was noted in the area of the dystrophic retina. Peripheral retinal examination revealed bone spicule pigmentation along the inferonasal quadrant.\nFundoscopy of OS showed similar findings. Bone spicules were noted in the inferotemporal quadrant.",
"gender": "Male"
}
] |
PMC7969344
|
[
{
"age": 8,
"case_id": "PMC5769854_01",
"case_text": "An 8-year-old boy presented at our hospital complaining of recurrent headache and vomiting for 3 months. The patient saw a doctor in a clinic before admission to our hospital and took some medicine for cold. The symptoms got relief temporarily but became severe 1 week ago.\nNeurological examination showed impaired vision and mild paresis (IV-grade of muscle strength) of the left extremities. CT (Fig. 1A, B) revealed an iso- to hyperdense lesion in the right basal ganglion extending to superasellar cistern, 4.0x4.4 cm in size with peripheral calcification. No hyperostosis of sellaturcica was noticed (Fig. 1C). Magnetic resonance imaging (MRI) demonstrated most of the mass lesion was iso-intense on T1-weighted, T2-weighted and fluid-attenuated inversion recovery images with inhomogeneous enhancement (Fig. 2A-E). No duraltail sign was noted. Diffusion tensor image revealed the right pyramidal tract was partially disrupted.\nUnder the guide of navigation, a transcortical (through the right middle frontal gyrus) approach was adopted to explore the lesion. There was no dural attachment, but the tumor was tightly adhered with the anterior cerebral artery (ACA). Small vessels supplied the anterior aspect of the tumor, subtotal resection (STR) was achieved.\nHistopathological examination revealed features of atypical meningioma with Ki-67 labeling index been approximately 10% (Fig. 3A-C). Immunohistochemistry showed the tumor positive for epithelial membrane antigen and negative for glial fibrillary acidic protein and S-100 protein (Fig. 3D-F).\nThe patient suffered transient exacerbation of impaired vision and weakness of contralateral limbs after operation, which resolved significantly after 3 months follow-up. Postoperative MRI revealed that most of the tumor had been resected and the residual part has been detached from dorsumsellae (Fig. 2F).",
"gender": "Male"
}
] |
PMC5769854
|
[
{
"age": 58,
"case_id": "PMC7265352_01",
"case_text": "A 58-year-old female presented with the left lower radiculopathy. Seven years ago, she had a prior L5-S1 ALIF. On examination she had decreased the left lower-extremity 1/5 motor function in the tibialis anterior and extensor hallucis longus distributions, plus a 3/5 in the gastrocnemius. The MRI showed what appeared to be an L4-L5 left-sided disk herniation above the level of her prior fusion (i.e., adjacent L4-L5 segment disk disease) [Figure 1].\nShe subsequently underwent an L4-L5 left-sided minimally invasive microdiscectomy. After the laminotomy was completed and nerve root identified, there was a large venous plexus in the nerve root axilla extending ventrally and laterally. This was successfully coagulated with bipolar cautery. Due to the fragility of the plexus and recurrent venous bleeding, multiple hemostatic agents were repeatedly employed to control the bleeding [Figure 2]. After successful cauterization, a thorough examination of the nerve root and disk showed no free fragments or accompanying disk herniations.\nPostoperatively, she reported immediate improvement of her foot strength and resolution of her left lower extremity and buttock pain. She was discharged on postoperative day 1 after a follow-up MRI confirmed an EVP as the ultimate etiology of her radiculopathy [Figure 3]. Six months later, an examination showed improvement to 4-/5 motor strength in the left tibialis anterior and extensor hallucis longus distributions, plus 4+/5 in the gastrocnemius.",
"gender": "Female"
}
] |
PMC7265352
|
[
{
"age": 80,
"case_id": "PMC6159178_01",
"case_text": "An 80-year-old male was being investigated at a tertiary hospital for iron deficiency anaemia. His medical history, symptomology and physical examination did not indicate a cause. After gastroscopy and colonoscopy were also unremarkable he was referred for capsule endoscopy. The delivery of the capsule in the morning was routine; however, review of the images 8 hlater showed a static picture and no evidence the capsule had entered the stomach. The patient was clinically stable and contacted to present to the emergency department with a suspicion of capsule impaction.\nA chest radiograph demonstrated a metallic object at the level of the second thoracic vertebra to the left of the trachea (Figure 1). The patient had no known oesophageal or tracheal diverticulum and expressed no symptoms of dysphagia. To pinpoint the exact anatomical location of the foreign body a non-contrast CT scan of the neck (Figure 2) was performed. The effective dose of CT was 0.81 mSv. This confirmed the object was the capsule endoscope lying to the left of the hypopharynx. The adjacent soft tissue was obscured by aliasing metal artefacts arising from the capsule. A single photon metal artefact reduction (MAR) software technique (O-MAR; Philips Healthcare, Cleveland, OH) was applied which successfully removed most of the metallic artefacts. It revealed the capsule was impacted in an oesophageal diverticulum.\nThe capsule was successfully endoscopically removed under a general anaesthetic and the patient's recovery was uncomplicated. A follow-up barium swallow study confirmed the presence of a Zenker's diverticulum which the patient opted not to surgically repair as he was asymptomatic. He was also offered endoscopic insertion of the capsule endoscope to bypass the diverticulum; however, the patient refused. His anaemia resolved with iron transfusions but no definitive cause was found. He was discharged from the clinic.",
"gender": "Male"
}
] |
PMC6159178
|
[
{
"age": 15,
"case_id": "PMC3678730_01",
"case_text": "For each death, the DSS has systematically recorded the age at death and the date of death (including day and month of death). A detailed VA questionnaire has been collected for deaths of children aged < 15 years old since 1985, and for all deaths since 2003. VA questionnaires are usually completed by close relatives of the deceased. For adults, they include an assessment of whether the deceased was pregnant at the time of death. After review of VA data by physicians, a likely cause of death is assigned to each recorded death using ICD-9 codes. According to this database, maternal mortality is high ( 915 per 100,000 live births for 2003-06,).\nIn August 2010, we conducted a pilot study aimed at determining the feasibility of linking retrospective survey data collected during SSH to DSS data, at the individual level. Prior studies comparing SSH and DSS data had been conducted at the aggregate level, and thus did not permit examining misclassification biases. In total, we interviewed 268 women aged 15-59 years who had at least one female sibling known to have died at reproductive ages according to the DSS datasets since the 1980s. Respondents were asked to complete the standard SSH questionnaire used during the 2005 DHS in Senegal. Interviewers were recruited among those who had participated in that DHS. Some survey respondents were members of the same sibship, and some deaths were thus potentially reported multiple times during the SSH survey.\nWe focus here on the subset of deaths having occurred in 2003-2009 because detailed VA questionnaires for adult deaths were systematically introduced in the Bandafassi DSS in 2003, and because this period matches the \"reference period\" usually used in producing estimates of adult and maternal mortality using SSH data (Timaeus and Jasseh 2004). We identify PR deaths in the DSS data as follows: 1) we use demographic surveillance data on dates of births and deaths to identify deaths having occurred at the time of delivery or within 2 months of a delivery regardless of the actual cause; 2) we use data from the VA questionnaires (i.e., a yes/no question asking VA respondent whether the deceased was pregnant at the time of the survey) to identify deaths having occurred during pregnancy. It is important to note that, in order to classify a death as PR or non-PR according to the DSS data, we do not use the ICD-9 codes assigned by physicians to each death. In SSH data, we define PR deaths as deaths reported to have occurred either during pregnancy, delivery or within 2 months of delivery according to the respondent.\nWe could not compare PR classifications obtained from SSH and DSS data for all deaths observed between 2003 and 2009 because, for some of the deceased, there were no eligible sisters in the DSS population or eligible sisters could not be located. In other cases, we could not ascertain whether the recorded death was PR because of missing data in the DSS dataset and/or the VA questionnaire. We thus begin by comparing the age at death, date of death, and PR classification obtained from the DSS of included vs. excluded deaths. We do so using chi2 tests of association. Among included deaths, we then examine the cross-classification of deaths as PR or non-PR, according to the SSH and DSS data. We calculate the proportion of deaths identified as PR (non-PR) in the DSS dataset, which were also classified as PR (non-PR) deaths in the SSH data. We do so for all reports collected during the SSH survey, and for a restricted sample in which we select at random one report of death per sibship (to avoid double-counting). In the case of discrepant classifications of PR deaths between SSH and DSS data, we report a) the cause of death as ascertained by physicians (using VA data), b) the time since the last recorded birth of the deceased, and c) the relationship between the deceased and the person who completed the VA questionnaire (e.g., sister-in-law). Finally, we use SSH data to investigate agreement between sisters about the reported timing of death in sibships where multiple sisters were interviewed.",
"gender": "Female"
}
] |
PMC3678730
|
[
{
"age": null,
"case_id": "PMC7201103_01",
"case_text": "The demographic and clinical characteristics are shown in Table 1. The median age was 62 years (IQR, 51 to 70). Fever (95.3%) and cough (65.1%) were the most common symptoms, while diarrhea (16.3) was not common. 37.2% of patients had at least one underlying disorder (i.e., hypertension, diabetes, cardiovascular diseases, and chronic lung diseases). There is no significant difference in median age between male and female groups, but the maximum of the range of IQR is lower in male (66 years in men vs. 73 years in women). Symptoms and comorbidities were comparable between men and women. As expected, men had a higher level of hemoglobin. However, male patients also had elevated serum creatinine, white blood cells, and neutrophils. Among the 43-case series, 13 (30.2%) were diagnosed with Mild or Moderate pneumonia, while 14 (32.6%) and 16 (37.2%) were diagnosed with Severe and Critical pneumonia, respectively. Chi-square (chi2) test for trend indicated that men's cases of COVID-19 tended to be more serious than women's (P = 0.035), according to the clinical classification of severity (Figure 1).\nBetween March 25 and May 22, 2003, a total of 524 SARS patients, including 139 deaths, in the Beijing area were reported from 29 hospitals enrolled in our analysis. Fever (98.4%) and cough (76.9%) were the most common symptoms, while diarrhea (6.7%) was not common. 57.0% of the patients had at least one of the concomitant diseases including hypertension, diabetes, cardiovascular diseases, and chronic lung diseases. The mean duration from self-reported symptoms to death was 15 (IQR: 10-19) days. Table 2 summarizes the clinical and biochemical characteristics of all SARS patients. The median age of the deceased patients was much higher than that of the patients who survived (57 vs. 32, P < 0.001). The rate of the concomitant diseases in the deceased patients was also higher than that of the patients who survived (57.0% vs. 17.9%, P < 0.001). While the deceased patients were significantly older than the patients who survived (Figure 3A), ages were comparable between men and women in both patients who deceased and survived with SARS (Figure 3B). The proportion of men was higher in the deceased group (53.2%) than in the group who survived (42.3%) (chi2 test, P = 0.027) (Figure 3C). Survival analysis showed that men had a significantly higher mortality rate than women (31.2 vs. 22.6%) in this hospital-based cohort (hazard ratio [95% CI] 1.47 [1.05-2.06], P = 0.026) (Figure 3D).",
"gender": "Female"
}
] |
PMC7201103
|
[
{
"age": 54,
"case_id": "PMC7373792_01",
"case_text": "The proband (II-2), a 54-year-old lady, came to the hospital due to recurrent chest pain in last 2 years. Coronary angiography indicated approximately 60-80% stenosis of the anterior descending coronary artery (Figure 1B), ECG testing also suggested the patient suffered from CHD (Figure 1C). However, the lipid testing described the level of LDL-c (3.94 mmol/L; control: <3.12 mmol/L) and a distinctly reduced levels of HDL-c (0.41 mmol/L; control: 0.9-2.19 mmol/L) of the proband (Table 1). This discovery attracted our interest because most patients with ASCVD commonly presented high levels of LDL-c, TC, and TG. We then investigated the family history of the proband (II-2), which indicated that her young sister (II-4) has been diagnosed as the occlusion of left iliac artery and her father (I-1) was died from myocardial infarction at 60-year-old. Lipid testing further described that both her son (III-1) and her young sister (II-4) showed an overt reduced levels of HDL-c and normal levels of LDL-c, TC, and TG (Table 1). And his young sister (II-4) also suffered from arterial plaque in the left lower limb. The blood pressure of the proband was 80-120 mmHg and the fasting blood-glucose was 5.2 mmol/L. The proband (II-2) accepted the treatment of percutaneous coronary intervention, the proband did not complain any uncomfortable after treatment. And breathing sound of the lungs was clearly, the heart rate was normal (Figure 1D), and the insertion site recovered well. The II-4 is accepting recovery treatment by exercise and diet control.\nWe supposed that the low levels of HDL-c may be the leading cause of AS and ASCVD in this family. However, what's the genetic lesion underling the reduced levels of HDL-c in this family? We then isolated the genomic DNA of the proband and other family members (I-2, II-1, II-2, II-4, III-1, and III-2). Whole exome sequencing of the proband (II-2) was performed to detect the candidate gene of reduced levels of HDL-c.\nIn short, Exome capture and next-generation sequencing were conducted by Novogene Bioinformatics Institute (Beijing, China). One microgram of qualified genomic DNA from each person was captured by the Agilent's SureSelect Human All Exon kit V5 (Agilent Technologies, Inc., Santa Clara, CA, United States) and sequenced by Illumina Hiseq4000 (Illumina Inc., San Diego, CA, United States). Shortly, genomic DNA were randomly carved by Covaris S220 sonicator (Covaris, Inc., Woburn, MA, United States). Then the fragmented DNAs underwent three enzymatic steps: end repair, A-tailing and adapters ligation. The adapter-ligated DNA fragments were amplified with Herculase II fusion DNA polymerase (Agilent). Later, the exomes in the pre-capture libraries were captured by SureSelect capture library kit (Agilent). After DNA quality estimation, the captured DNA library was used for next-generation sequencing on Illumina Hiseq4000 platform. Downstream processing was carried out by Genome Analysis Toolkit (GATK), Varscan2 and Picard, and variant calls were performed by the GATK Haplotype Caller. Variant annotation referred to Ensemble release 82, and filtering was conducted by ANNOVAR Documentation.\nThe filtered non-synonymous SNPs or INDELs with an alternative allele frequency more than 1% in public databases were kicked before further analysis. The public databases contains the NHLBI Exome Sequencing Project Exome Variant Server (ESP6500), dbSNP1441, the 1000 Genomes project2, the ExAC database3 and in-house exome databases of Novogene (2500 exomes). Then the filtered SNVs and INDELs, predicted by SIFT4, Polyphen25, and MutationTaster6 to be damaging, were remained.\nAfter data filtering, a novel nonsense mutation (NM_007168: c.3460C>T; p.R1154X) of ABCA8 was identified and validated by Sanger sequencing in the proband (Figure 1E). Previous studies have revealed that deleterious heterozygous ABCA8 mutations may disrupt cholesterol efflux and reduce HDL-c levels in humans and mice. No other meaningful mutations related to lipid metabolism has been identified. Sanger sequencing further confirmed that only the affected individuals (II-2, II-4, and III-1) carried the novel nonsense mutation (NM_007168: c.3460C>T; p.R1154X) of ABCA8 (Figure 1F). The novel mutation, resulting a truncated protein, was absent in the healthy members (I-2, II-1, and III-2) and 200 local people who were used as an internal control to exclude the SNP in local people. Bioinformatics predicted that the newly identified mutation was deleterious and may disrupt the structure and function of ABCA8. On the basis of ACMG guidelines, the novel variant meetings the following criteria from the ACMG guidelines: PVS1, PS3, and PM2.",
"gender": "Female"
}
] |
PMC7373792
|
[
{
"age": 68,
"case_id": "PMC8138243_01",
"case_text": "A Caucasian 68-year-old male, without systemic diseases, was admitted in March 2020 to a tertiary care center (Hospital Vera Cruz, Campinas, Sao Paulo, Brazil) with history of right upper eyelid swelling and redness for 10 days, which became progressively worse. He denied fever, worsening of visual acuity, or pain due to eye movements.\nAt presentation, the patient's right eye was closed by erythematous and swelling of the right upper lid (Fig. 1). Vital signs at the time of hospital admission were as follows: systemic blood pressure = 130 x 70 mm Hg, cardiac frequency = 71 bpm, and body temperature = 37.1 C. The full blood count presented a white blood count of leukocytes = 6,478 mm3 (neutrophils = 4,060 mm3, eosinophils 30 mm3, basophils = 20 mm3, lymphocytes = 1,790 mm3, and monocytes = 580 mm3). All of them were within the normal range.\nOphthalmologic exam at the time of admission showed visual acuity of 0.4 logMAR in both eyes (OU) with spectacles, clear conjunctiva, clear cornea, and nuclear cataract 2+ in OU. Ocular motility and pupillary reflex were normal in OU. The intraocular pressure was 12 mm Hg in OU (with Icare tonometer, which is a rebound tonometer). Fundoscopy showed pink optic disc with sharp margins and a cup to disc ratio of 0.5 in OU.\nComputerized tomography revealed preseptal and soft tissue edema with an abscess in the anterior right upper eyelid but no signs of orbital involvement or orbital fractures. Figure 2 presents the aspect of both eyelids in the tomography. A presumptive diagnosis of hordeolum with preseptal cellulitis and abscess was made, and intravenous amoxicillin and clavulanate potassium 500/125 mg were administrated twice a day.\nThe development of purulent discharge from the upper eyelid with an abscess and necrosis was evident. Therefore, the patient underwent abscess drainage and wound debridement. During the procedure, necrosis was observed involving almost the full thickness of the right upper eyelid, measuring 30 x 30 mm in the central area. The tissue surrounding the abscess was friable and necrotic and did not bleed. The necrotic tissue was debrided until healthy viable tissue appeared throughout the wound and no evidence of infection was present in the reminiscent tissue. The wound was left open to heal by secondary intension. Figure 3 presents the eyelid aspect immediately after the surgery.\nGiven the clinical improvement in his local and systemic condition, the patient was continued on intravenous amoxicillin and clavulanate twice a day for 48 h and was discharged with the same oral antibiotics. He also started using topical medication with retinol acetate (10,000 IU/g), amino acids (25 mg/g), methionine (5 mg/g), and chloramphenicol (5 mg/g) in the affected eyelid for 7 days, 3 times a day.\nSeven days after debridement, he presented satisfactory cicatrization without any symptoms (Fig. 4). After 2 months, the eyelid was completely healed with no retraction (Fig. 5a, b).",
"gender": "Male"
}
] |
PMC8138243
|
[
{
"age": 35,
"case_id": "PMC3546213_01",
"case_text": "A 35-year-old woman developed MVD due to a left HFS 6 years ago, which was refractory to medical treatment. Results of preoperative brain magnetic resonance image and electromyography were normal. Surgery was successfully performed, and the postoperative findings revealed that the branch of the left anterior inferior cerebellar artery had been compressing the VII-VIII cranial nerve complex. The pateint did not show any specific symptoms for about 3 and a half years after MVD. But, the symptoms began to recur 1 year ago and she was medicated with 0.5 mg clonazepam for 3 months, and received two local botulinum toxin injections. No treatment effect occurred, so she visited our pain clinic. The patient was experiencing a twitch on the infraorbital area and chin when the HFS was severe, and spasm frequency was 3-4 Hz. Discomfort on the visual analogue scale (VAS) was 10/10. We initially attempted a left stellate ganglion block twice, but no effect was observed, Then, we performed a fluoroscope-guided left facial nerve block twice using 4 ml of 2% lidocaine, and 20 mg triamcinolone. No complications occurred, and the HFS symptoms were relieved for 4 days. Thus, we decided to perform PRF on the facial nerve. In the right lateral decubitus position, the patient's chin was slightly lifted, which exposed the mastoid process. Both sides of the mastoid process and mandible were superimposed on a lateral fluoroscope imaging view (Fig. 1). The skin was prepared with betadine and aseptic draping. We used a 10 cm, 22-G Sluijter-Mehta cannula needle with a 0.5 mm active tip and verified accurate needle position by fluoroscopy. A 5 mm skinwheal appeared from the mastoid process to the nose beginning at the needle entry point of the local anesthetic. We explored facial nerves with 50 Hz, 0.5 V sensory stimulation to the tongue and 2 Hz, 1.0 V motor stimulation to the left hemi face when the tip of the needle was positioned around the stylomastoid for amen. We administered three PRF pulses at 42C for 120 seconds after confirming that the needle tip was near the facial nerve. After the procedure, we injected 3 ml of 4% lidocaine mixed with 20 mg triamcinolone. The patient was symptom free for only 4 days, so we applied additional PRF treatments twice using the same method to obtain a longer effect. When the patient returned as an outpatient 1 week after the second PRF treatment, HFS frequency was improved to < 0.25 Hz, and subjective complaints improved on the VAS (2-3/10). The modified MacNab criteria at 1 week after the procedure were good. The patient was followed up at 3, 6, 9, and 12 months via telephone, and symptom relief was maintained continuously.",
"gender": "Female"
}
] |
PMC3546213
|
[
{
"age": 20,
"case_id": "PMC9852490_01",
"case_text": "A 20-year-old male presented with pain and limited motion in the right knee for 15 years. The patient presented to our clinic with HA, restricted flexion and extension of the right knee and a sagittal deformity of the right femur 8 months prior to the surgery. He was diagnosed with severe haemophilia A (coagulation factor VIII was 1.52%) and haemophilic arthritis of right knee. At the age of 13, the patient was fixed with plaster for a fracture of the femoral shaft, which resulted in a malunion.\nBecause he was positive for inhibitors, the patient was re-examined regularly by the Haematology Clinic after discharge. The patient did not take any interventions during the first 4 months while being positive for inhibitors. During this period, the patient suffered from knee joint bleeding and recovered after ice compression and lying in bed. In the 5th month after the discovery of the inhibitors, the patient received irregular injections of factor VIII intravenously (1,000 IU, BIW or TIW, Kovaltry, Bayer), which did not follow the haematologist's recommendation. After 66 days of injections, he was still positive for inhibitors. Since then, the patient started to receive regular injections of factor VIII (1,500 IU, BID) intravenously. Forty-nine days after the first injection, he became negative for inhibitors (Table 1). The patient came to the hospital again 3 days prior to the surgery.\nPreoperative examinations showed the patient had pain in his right knee. His right foot could not touch the ground. The range of joint motion (ROM) was 20 -90 , the visual analogue scale (VAS) was 7 and the Western Ontario and McMaster Universities Osteoarthritis Index (WOMAC) was 106 (Figure 1, Table 2). Other systemic examinations were normal. X-ray and CT showed that the patient's right knee joint space was narrow, with a right femoral flexion deformity (30 , sagittal, anterior) (Figure 2).",
"gender": "Male"
}
] |
PMC9852490
|
[
{
"age": 42,
"case_id": "PMC4108191_01",
"case_text": "A 42-year-old, non-smoking, virgin woman presented to our institution with complaints of dyspnea and pleuritic chest pain since 2 days ago along with 2-month transient spotting. She had a history of leiomyoma since 5 months ago, and was hospitalized due to vaginal bleeding, and had been undergone therapy by a gonadotropin-releasing hormone (GnRH) agonist and medroxyprogesterone acetate, intramuscularly. To control her anemia, she was given oral ferrous sulfate. There was no relevant familial history of the same condition. On physical examination, she was anxious and tachypneic on admission, with body mass index of 24.7 kg/m2, body temperature 37 C, blood pressure 100/70 mmHg, heart rate 120 beats per min, respiratory rate of 24 breaths per min, and 96% oxygen saturation while breathing room air. Other findings included regular heart beat with a 2/6 systolic murmur in the left sternal border, clear lung sound, and a non-tender abdomen with a 20-week size uterus. There was no swelling in her lower limbs.\nAn electrocardiogram revealed a sinus tachycardia and inverted T waves in v1 to v3 and inferior leads. Hematologic testing revealed hemoglobin of 11.3 g/dL and other results were within normal limits. Coagulation factors were also unremarkable. A chest radiograph showed Westermark sign without pleural effusion. An ultrasound investigation revealed an acute DVT in the popliteal and superficial femoral veins of her left leg and an enlarged leiomyoma of the uterus. Thereafter, transesophageal echocardiography (TEE) demonstrated normal left ventricle systolic function, severe right ventricle enlargement, McConnell sign, moderate tricuspid regurgitation, severe pulmonary hypertension of 110 mmHg, and dilatation of the main pulmonary artery. In addition, a 2.6 1.6 cm echogenic mass was detected in the left pulmonary artery, consistent with thrombosis (Figure 1). Given her leiomyoma history, she underwent magnetic resonance imaging (MRI), which revealed a huge uterine-derived mass compressing both common iliac veins (Figure 2).\nDue to massive PE, the patient was administered loading dose of 250 000 units of streptokinase and the infusion of 100 000 units per hour during 24 h. After undergoing thrombolysis, her general condition significantly improved, and then she underwent anticoagulation therapy. One unit of packed red blood cells was also transfused. Examination by TEE on the fourth day revealed the disappearance of the pulmonary artery thrombosis. After achieving a therapeutic range of international normalized ratio (range 2.0-3.0), she was discharged on warfarin 5 mg daily.\nThe patient was followed for 3 months and then evaluated again and examined using TEE and ultrasonography, which demonstrated normal findings. After withholding warfarin preoperatively, she underwent myomectomy instead of hysterectomy due to her uterus preservation. Warfarin therapy commenced again following surgery, and she was discharged in stable condition on warfarin therapy. Nine months after myomectomy, she was well, without evidence of thromboembolism.",
"gender": "Female"
}
] |
PMC4108191
|
[
{
"age": 67,
"case_id": "PMC8200619_01",
"case_text": "A totally bimaxillary edentulous male patient, aged 67 years, diagnosed with prostate cancer who underwent intravenous bisphosphonates treatment (zoledronic acid) for about one year presented himself in March 2018 to Maxillofacial Surgery Department of County Clinical Hospital of Craiova.",
"gender": "Male"
},
{
"age": null,
"case_id": "PMC8200619_02",
"case_text": "The patient had pain in the anterior mandibular arch, with exposed necrotic bone. Diagnostic was stage 2 MRONJ.\nBisphosphonate treatment was discontinued about 6 months in advance.\nFollowing clinical examination corroborated with the imaging investigations, it was decided to adopt a conservative treatment which consisted in removing the necrotic bone tissue by marginal resection of the mandible down to the clinically healthy bone, associated with lavages with antiseptic solutions and antibiotic therapy.\nPatient gave the written informed consent for the treatment, and also for publication of his case.\nAlthough initially the evolution was favorable, after about 2 weeks there were numerous infectious episodes that required repeated antibiotic treatment.",
"gender": "Male"
},
{
"age": null,
"case_id": "PMC8200619_03",
"case_text": "The patient developed a dehiscence in the operated area (Figures 1 a, b).\nDue to the progressive nature of MRONJ, it was decided to perform a radical surgery, with the written informed consent of the patient.\nUnder general anesthesia, a submandibular incision was made from the left mandibular angle to the right mandibular angle with the exposure of the entire mandibular body (Figure 2a).\nIt was revealed a large area of bone necrosis in the anterior mandibular arch level (Figure 2b).\nThe contour of the mandibular arch was recorded with a guide plate.\nSegmental anterior mandibular resection was performed with large bone bur drills under saline irrigation down to healthy bone with normal bone specific bleeding (Figures 2 c, d).\nThe surgical specimen was sent for histopathological examination to exclude malignancy.\nAs the resulting defect was large, it was decided to restore the contour of the mandibular arch with titanium primary reconstruction plate covered with a pectoralis major flap to close the resulting defect (Figures 2 e, f).\nThe thoraco-acromial artery was included in the pectoralis major flap (Figure 2f).\nIt was rotated in the oral cavity with the tegument part closing the endo-oral mucosa defect (Figure 2g).\nThe donor site was closed primarily after flap harvest.\nSurgical treatment was associated with postoperative antibiotic therapy for a period of 7 days.\nBoth the endo-oral wound and the donor site wound healed without complications.",
"gender": "Unknown"
},
{
"age": null,
"case_id": "PMC8200619_04",
"case_text": "There were no more inflammatory areas and the patient did not complain of local pain.",
"gender": "Unknown"
},
{
"age": null,
"case_id": "PMC8200619_05",
"case_text": "The patient was monitored weekly for the first month after discharge and then monthly for up to one year after surgery (April 2019).\nAt 6 months and 1 year after the intervention, there were no recurrences of MRONJ (Figures 3 a,b).",
"gender": "Unknown"
}
] |
PMC8200619
|
[
{
"age": 32,
"case_id": "PMC5420015_01",
"case_text": "A 32-year-old woman in the 28th week of her fifth pregnancy was referred to our institution with a 3-week history of fetal bradycardia (fetal heart rate 60 beats per minute [bpm]). She had no personal or family histories of cardiac arrest, seizures, or syncope. Of her 4 pregnancies, only 1 had ended in a miscarriage. The initial fetal echocardiogram at our institution revealed a structurally normal heart with normal size, normal function, and second-degree AVB (V rate 60 bpm, atrial rate 120 bpm). Her antibody screen was negative for anti-SSA and anti-SSB antibodies. One week later, a follow-up fetal echocardiogram showed a ventricular rate of 220 bpm (atrial rate was 130 bpm) (Figure 1A). An fMCG was then performed which revealed nonsustained VT alternating with sinus rhythm (rate 130 bpm) (Figure 1B). The VT was present about 75% of the time. The QTc was 591 ms (Figure 1C).\nOver the ensuing days, the TdP continued and the fetus developed severe hydrops. We therefore decided to administer an intravenous loading dose of magnesium (4 g) followed by a continuous infusion (1-1.4 g/h) to maintain a maternal serum level of 1.2-1.4 (normal = 0.65-1.05 mmol/L). The mother's baseline magnesium level was 0.72 mmol/L. Within 3 days of magnesium infusion the frequency of TdP decreased (by fMCG the fetus was in sinus rhythm 80% of the time). Because of the concern for an SCN5A R1623Q mutation, we began treatment with mexiletine (600 mg orally per day). The fetus remained in sinus rhythm (rate 100 bpm) with continuous magnesium infusion and oral mexiletine given to the mother. At 35 weeks the fetus became bradycardic and was found to be in second-degree AVB.\nThe mother underwent an elective cesarean section at 35 weeks' gestation and a 2334-g male infant was delivered. The heart rate at birth was 56 bpm owing to functional second-degree AVB with 2:1 conduction (Figure 2A). Immediately after delivery, temporary transvenous pacing wires were placed. On the second day of life, a permanent pacemaker was implanted. We also administered oral mexiletine (4 mg/kg/d) and intravenous propranolol (0.02 mg/kg/h); no VT was observed. On the 14th day of life, the infant's electrocardiography showed sinus rhythm with a left bundle branch block pattern (Figure 2B). On the 40th day of life, the mexiletine blood levels declined, and TdP occurred despite ventricular pacing (VVI 80 bpm). The TdP spontaneously terminated.\nThe VVI pacing rate was increased to 110 bpm. When the infant was at the age of 5 months, weighing 6.6 kg, we placed an implantable cardioverter-defibrillator (ICD). The shock lead was implanted subcutaneously through the left thoracodorsal region, and the generator was placed under the right abdominal rectus muscle (Figure 2C). Following implantation of the ICD, the child did not experience any appropriate or inappropriate shocks during 4 years of follow-up. He received oral mexiletine (12 mg/kg/d) and propranolol (2 mg/kg/d).\nGenetic testing of this case revealed a KCNH2 missense mutation (S624R). To date, there has been no functional analysis of this mutation. His mother's QTc was 440 ms, and his father's was 390 ms. Neither of the parents had any mutation in this locus. However, we did not exclude parental germinal mosaicism.",
"gender": "Female"
},
{
"age": 35,
"case_id": "PMC5420015_02",
"case_text": "A 35-year-old woman was referred to our institution at 24 weeks' gestation because of a fetal pericardial effusion and fetal tachycardia. The family history was positive for a paternal KCNH2 missense mutation (T613M) diagnosed after a syncopal episode. The fetal echocardiogram revealed a peristent tachycardia with atrioventricular dissociation (Figure 3A). The fMCG confirmed the clinical diagnosis of VT with a rate of 220 bpm (Figure 3B) with a prolonged (511 ms) QTc during brief (<20% of the recording time) episodes of sinus rhythm (rate 110-120 bpm) (Figure 3C). The mother was admitted to the hospital for continuous intravenous magnesium treatment to terminate the fetal VT. However, despite maternal serum magnesium levels of 1.28 mmol/L (normal range 0.65-1.05 mmol/L), the VT persisted and the fetus became hydropic (Figure 3D). Ten days after the mother was on magnesium, we initiated propranolol (initial dose 60-120 mg orally per day), following which the VT resolved. We continued magnesium by a continuous infusion (1.4 g/h) after we started propranolol. fMCG revealed a decreased fetal sinus rate from 120 to 110 bpm. The hydrops then improved gradually. The mother's daily total heart beats decreased from 129,108 to 103,206 (average heart rate decreased from 90 to 71 bpm) after propranolol administration, indicating beta-adrenergic blocking effect. Subsequently, the fetal sinus rhythm (rate 110 bpm) was maintained. A 2010-g female infant was delivered by elective cesarean delivery at 37 weeks' gestation. After birth, the infant's electrocardiography showed an intermittent left bundle branch block pattern. On the fifth day of life, she developed second-degree AVB with a ventricular rate of 60-80 bpm and metabolic acidemia owing to poor cardiac output. She urgently underwent temporary epicardial ventricular pacing lead implantation. At the age of 3 months, sustained VT occurred immediately after permanent pacemaker implantation and was successfully terminated by cardioversion. Hypokalemia (serum potassium level was 2.9 mmol/L) during intensive care likely contributed to the VT. VT did not recur after the potassium was corrected. Her genetic testing identified the KCNH2 missense mutation (T613M), identical to that of her father. She received oral mexiletine (7 mg/kg/d) and propranolol (3 mg/kg/d) with pacing (VVI 110 bpm) for 23 months.",
"gender": "Female"
}
] |
PMC5420015
|
[
{
"age": 53,
"case_id": "PMC6288572_01",
"case_text": "A 53-year-old male, smoker (20 pack-years), occasional alcoholic, presented with complaints of blood expectoration of 400 ml in one episode followed by 100-150 ml for 2-3 days. He had 3 episodes of similar history which required hospitalizations and emergency care since 9 months. He denied history of fever, chest pain, and loss of appetite. He underwent cholecystectomy 3 years ago. There was no history of systemic immune suppression like diabetes. He had undergone bronchial artery embolization for massive haemoptysis; however, his haemoptysis persisted and diagnosis remained elusive after evaluation with sputum studies and CT-guided aspiration cytology, biopsy, and bronchoscopic lavage. He was treated for LRTI with multiple courses of antibiotics for more than 9 months.\nOn examination, vitals were normal with no respiratory distress. Oral hygiene was poor with dental caries. Respiratory examination revealed scattered crackles in the left lower lobe area. Chest X-ray showed an inhomogeneous opacity in the left lower zone with raised left diaphragm (Figure 1), and CECT (contrast-enhanced computer tomogram) chest showed a hypodense lesion with irregular margins in the anterior segment of the left lower lobe adjacent to the descending aorta and associated subcarinal lymphadenopathy (Figures 2 and 3). Image-guided transthoracic biopsy showed type 2 alveolar cell hyperplasia with negative immunohistochemistry. Bronchoscopy confirmed left lower lobe bleed with any endoluminal lesion. Bronchial wash was negative for microbiological and cytological studies including AFB stain, geneXpert for MTB complex, and pyogenic culture. Patient's symptoms of haemoptysis persisted; hence, CT angiogram was performed, which showed dilated vascular channels within the lesion without any obvious extravasations of contrast and no aortic abnormality.\nProbable diagnosis of the left intrapulmonary vascular lesion was made and hence the patient underwent left lower lobe lobectomy. Intraoperatively, the left lower lobe was adherent posterolaterally to the aorta and diaphragm. Multiple prominent blood vessels in areas of adhesion were seen. Histopathology was suggestive of chronic inflammatory cells with focal aggregates of lymphocytes with positive GMS staining for actinomycosis (Figure 4). Postoperatively, the patient received parenteral benzylpenicillin 20 lakh units 6th hourly for 3 months. The patient was in regular follow-up, and no further episodes of haemoptysis and no recent respiratory complaints are reported.",
"gender": "Male"
}
] |
PMC6288572
|
[
{
"age": 33,
"case_id": "PMC6921157_01",
"case_text": "A 33-year-old woman with intractable epilepsy was referred to our epilepsy center for clinical evaluation. At age 31, she experienced status epilepticus subsequent to a febrile episode and following prolonged coma that continued several weeks. She had no prior history of epilepsy or seizure-related disorders. Initial diagnosis was limbic encephalitis, based on inflammatory findings of cerebrospinal fluid. She was treated with intravenous steroid administration and plasma exchange at another hospital. Although she gradually recovered from comatose state and discharged home in two months without any disability for daily living, symptomatic epilepsy with frequent seizures with impaired awareness persisted. She described that her seizure started with strange odor or deja vu sensation, and then she felt dizziness or lightheadedness. It sometimes accompanied jerky movements of the right side of her face and arm, and eventually led to impaired awareness. Although she was taking levetiracetam 1000 mg and lamotrigine 400 mg, she usually had 1-2 seizures a day. She had previously taken carbamazepine, lacosamide, perampanel and topiramate which did not lead to improvement.\nHer latest brain magnetic resonance imaging (MRI) revealed a cluster of variably sized multiple nodular high intensity lesions on T2-weighted image (T2WI) and fluid-attenuated inversion recovery (FLAIR) in white matter of the left temporal lobe along with the border of inner cortex (Fig. 1A). The lesions did not show any mass effect or enhancement with gadolinium. Similar findings were also observed in the past MRI when the patient had encephalitis two years before, and the size of the lesions were not different from the latest one. The characteristics of MRI findings were consistent with those of MVNT. 18 fluoro-2-deoxyglucose positron emission tomography (FDG-PET) of brain demonstrated moderate decrease of uptake in the lesion area (Fig. 1B). Laboratory findings of her blood and cerebrospinal fluid did not reveal any other causes of epilepsy.\nLong-term video electroencephalogram (vEEG) was performed for 72 h and three habitual seizures were recorded: Two of them started with deja vu and strange odor sensation followed by nodding movement of the head and subsequent fluttering of right hand and foot. Her consciousness was partially impaired during the seizure. vEEG showed rhythmic wave that started from the left middle temporal area and spread to the ipsilateral frontal region, and then to the contralateral hemisphere (Fig. 2A); The other started with lightheadedness and vEEG showed similar rhythmic waves that started from the right anterior temporal area (Fig. 2B). Interictal EEG showed frequent multifocal spikes and sharp waves in the bilateral anterior to middle temporal area.\nBased on the EEG findings that demonstrated the multiple independent seizure onsets in both hemispheres, the patient was considered to have bilateral multifocal epileptic foci, whereas the lesions with MVNT appearance on MRI were localized in the left temporal lobe. Although MVNT had been described as an epilepsy-related brain tumor, we refrained from resection surgery because it was not certain that the lesions were epileptogenic in this patient. She has been followed up with multiple antiepileptic drugs.",
"gender": "Female"
}
] |
PMC6921157
|
[
{
"age": 4,
"case_id": "PMC4550780_01",
"case_text": "Considerable variations in recursive abilities have also been observed developmentally. Dickinson showed that recursive language production abilities emerge gradually, in a piecemeal fashion. On the comprehension side, training improves comprehension of singly embedded relative clause constructions both in 3-4-year old children (Roth,) and adults (Wells et al.,), independent of other cognitive factors. Level of education further correlates with the ability to comprehend complex recursive sentences (Dabrowska,). More generally, these developmental differences are likely to reflect individual variations in experience with language (see Christiansen and Chater, Forthcoming), differences that may further be amplified by variations in the structural and distributional characteristics of the language being spoken.\nTogether, these individual, developmental and cross-linguistic differences in dealing with recursive linguistic structure cannot easily be explained in terms of a fundamental recursive competence, constrained by fixed biological constraints on performance. That is, the variation in recursive abilities across individuals, development, and languages are hard to explain in terms of performance factors, such as language-independent constraints on memory, processing or attention, imposing limitations on an otherwise infinite recursive grammar. Invoking such limitations would require different biological constraints on working memory, processing, or attention for speakers of different languages, which seems highly unlikely. To resolve these issues, we need to separate claims about recursive mechanisms from claims about recursive structure: the ability to deal with a limited amount of recursive structure in language does not necessitate the postulation of recursive mechanisms to process them. Thus, instead of treating recursion as an a priori property of the language faculty, we need to provide a mechanistic account able to accommodate the actual degree of recursive structure found across both natural languages and natural language users: no more and no less.\nWe favor an account of the processing of recursive structure that builds on construction grammar and usage-based approaches to language. The essential idea is that the ability to process recursive structure does not depend on a built-in property of a competence grammar but, rather, is an acquired skill, learned through experience with specific instances of recursive constructions and limited generalizations over these (Christiansen and MacDonald,). Performance limitations emerge naturally through interactions between linguistic experience and cognitive constraints on learning and processing, ensuring that recursive abilities degrade in line with human performance across languages and individuals. We show how our usage-based account of recursion can accommodate human data on the most complex recursive structures that have been found in naturally occurring language: center-embeddings and cross-dependencies. Moreover, we suggest that the human ability to process recursive structures may have evolved on top of our broader abilities for complex sequence learning. Hence, we argue that language processing, implemented by domain-general mechanisms:not recursive grammars:is what endows language with its hallmark productivity, allowing it to \"...make infinite employment of finite means,\" as the celebrated German linguist, Wilhelm von Humboldt (: p. 91), noted more than a century and a half ago.\nLanguage processing involves extracting regularities from highly complex sequentially organized input, suggesting a connection between general sequence learning (e.g., planning, motor control, etc., Lashley,) and language: both involve the extraction and further processing of discrete elements occurring in temporal sequences (see also e.g., Greenfield,; Conway and Christiansen,; Bybee,; de Vries et al.,, for similar perspectives). Indeed, there is comparative, genetic, and neural evidence suggesting that humans may have evolved specific abilities for dealing with complex sequences. Experiments with non-human primates have shown that they can learn both fixed sequences, akin to a phone number (e.g., Heimbauer et al.,), and probabilistic sequences, similar to \"statistical learning\" in human studies (e.g., Heimbauer et al.,, under review; Wilson et al.,). However, regarding complex recursive non-linguistic sequences, non-human primates appear to have significant limitations relative to human children (e.g., in recursively sequencing actions to nest cups within one another; Greenfield et al.,; Johnson-Pynn et al.,). Although more carefully controlled comparisons between the sequence learning abilities of human and non-primates are needed (see Conway and Christiansen,, for a review), the currently available data suggest that humans may have evolved a superior ability to deal with sequences involving complex recursive structures.\nThe current knowledge regarding the FOXP2 gene is consistent with the suggestion of a human adaptation for sequence learning (for a review, see Fisher and Scharff,). FOXP2 is highly conserved across species but two amino acid changes have occurred after the split between humans and chimps, and these became fixed in the human population about 200,000 years ago (Enard et al.,). In humans, mutations to FOXP2 result in severe speech and orofacial motor impairments (Lai et al.,; MacDermot et al.,). Studies of FOXP2 expression in mice and imaging studies of an extended family pedigree with FOXP2 mutations have provided evidence that this gene is important to neural development and function, including of the cortico-striatal system (Lai et al.,). When a humanized version of Foxp2 was inserted into mice, it was found to specifically affect cortico-basal ganglia circuits (including the striatum), increasing dendrite length and synaptic plasticity (Reimers-Kipping et al.,). Indeed, synaptic plasticity in these circuits appears to be key to learning action sequences (Jin and Costa,); and, importantly, the cortico-basal ganglia system has been shown to be important for sequence (and other types of procedural) learning (Packard and Knowlton,). Crucially, preliminary findings from a mother and daughter pair with a translocation involving FOXP2 indicate that they have problems with both language and sequence learning (Tomblin et al.,). Finally, we note that sequencing deficits also appear to be associated with specific language impairment (SLI) more generally (e.g., Tomblin et al.,; Lum et al.,; Hsu et al.,; see Lum et al.,, for a review).\nHence, both comparative and genetic evidence suggests that humans have evolved complex sequence learning abilities, which, in turn, appear to have been pressed into service to support the emergence of our linguistic skills. This evolutionary scenario would predict that language and sequence learning should have considerable overlap in terms of their neural bases. This prediction is substantiated by a growing bulk of research in the cognitive neurosciences, highlighting the close relationship between sequence learning and language (see Ullman,; Conway and Pisoni,, for reviews). For example, violations of learned sequences elicit the same characteristic event-related potential (ERP) brainwave response as ungrammatical sentences, and with the same topographical scalp distribution (Christiansen et al.,). Similar ERP results have been observed for musical sequences (Patel et al.,). Additional evidence for a common domain-general neural substrate for sequence learning and language comes from functional imaging (fMRI) studies showing that sequence violations activate Broca's area (Lieberman et al.,; Petersson et al.,; Forkstam et al.,), a region in the left inferior frontal gyrus forming a key part of the cortico-basal ganglia network involved in language. Results from a magnetoencephalography (MEG) experiment further suggest that Broca's area plays a crucial role in the processing of musical sequences (Maess et al.,).\nIf language is subserved by the same neural mechanisms as used for sequence processing, then we would expect a breakdown of syntactic processing to be associated with impaired sequencing abilities. Christiansen et al. tested this prediction in a population of agrammatic aphasics, who have severe problems with natural language syntax in both comprehension and production due to lesions involving Broca's area (e.g., Goodglass and Kaplan,; Goodglass, :see Novick et al.,; Martin,, for reviews). They confirmed that agrammatism was associated with a deficit in sequence learning in the absence of other cognitive impairments. Similar impairments to the processing of musical sequences by the same population were observed in a study by Patel et al.. Moreover, success in sequence learning is predicted by white matter density in Broca's area, as revealed by diffusion tensor magnetic resonance imaging (Floel et al.,). Importantly, applying transcranial direct current stimulation (de Vries et al.,) or repetitive transcranial magnetic stimulation (Udden et al.,) to Broca's area during sequence learning or testing improves performance. Together, these cognitive neuroscience studies point to considerable overlap in the neural mechanisms involved in language and sequence learning2, as predicted by our evolutionary account (see also Wilkins and Wakefield,; Christiansen et al.,; Hoen et al.,; Ullman,; Conway and Pisoni,, for similar perspectives).\nComparative and genetic evidence is consistent with the hypothesis that humans have evolved more complex sequence learning mechanisms, whose neural substrates subsequently were recruited for language. But how might recursive structure recruit such complex sequence learning abilities? Reali and Christiansen explored this question using simple recurrent networks (SRNs; Elman,). The SRN is a type of connectionist model that implements a domain-general learner with sensitivity to complex sequential structure in the input. This model is trained to predict the next element in a sequence and learns in a self-supervised manner to correct any violations of its own expectations regarding what should come next. The SRN model has been successfully applied to the modeling of both sequence learning (e.g., Servan-Schreiber et al.,; Botvinick and Plaut,) and language processing (e.g., Elman,), including multiple-cue integration in speech segmentation (Christiansen et al.,) and syntax acquisition (Christiansen et al.,). To model the difference in sequence learning skills between humans and non-human primates, Reali and Christiansen first \"evolved\" a group of networks to improve their performance on a sequence-learning task in which they had to predict the next digit in a five-digit sequence generated by randomizing the order of the digits, 1-5 (based on a human task developed by Lee,). At each generation, the best performing network was selected, and its initial weights (prior to any training):i.e., their \"genome\":was slightly altered to produce a new generation of networks. After 500 generations of this simulated \"biological\" evolution, the resulting networks performed significantly better than the first generation SRNs.\nReali and Christiansen then introduced language into the simulations. Each miniature language was generated by a context-free grammar derived from the grammar skeleton in Table 1. This grammar skeleton incorporated substantial flexibility in word order insofar as the material on the right-hand side of each rule could be ordered as it is (right-branching), in the reverse order (left-branching), or have a flexible order (i.e., the constituent order is as is half of time, and the reverse the other half of the time). Using this grammar skeleton, it is possible to instantiate 36 (= 729) distinct grammars, with differing degrees of consistency in the ordering of sentence constituents. Reali and Christiansen implemented both biological and cultural evolution in their simulations: As with the evolution of better sequence learners, the initial weights of the network that best acquired a language in a given generation were slightly altered to produce the next generation of language learners:with the additional constraint that performance on the sequence learning task had to be maintained at the level reached at the end of the first part of the simulation (to capture the fact that humans are still superior sequence learners today). Cultural evolution of language was simulated by having the networks learn several different languages at each generation and then selecting the best learnt language as the basis for the next generation. The best learnt language was then varied slightly by changing the directions of a rule to produce a set of related \"offspring\" languages for each generation.\nAlthough the simulations started with language being completely flexible, and thus without any reliable word order constraints, after <100 generations of cultural evolution, the resulting language had adopted consistent word order constraints in all but one of the six rules. When comparing the networks from the first generation at which language was introduced and the final generation, Reali and Christiansen found no difference in linguistic performance. In contrast, when comparing network performance on the initial (all-flexible) language vs. the final language, a very large difference in learnability was observed. Together, these two analyses suggest that it was the cultural evolution of language, rather than biological evolution of better learners, that allowed language to become more easily learned and more structurally consistent across these simulations. More generally, the simulation results provide an existence proof that recursive structure can emerge in natural language by way of cultural evolution in the absence of language-specific constraints.\nNP {N (PP)}\nPP {adp NP}\nAn important remaining question is whether human learners are sensitive to the kind of sequence learning constraints revealed by Reali and Christiansen's simulated process of cultural evolution. A key result of these simulations was that the sequence learning constraints embedded in the SRNs tend to favor what we will refer to as recursive consistency (Christiansen and Devlin,). Consider rewrite rules (2) and (3) from Table 1: \n(3) [NP buildings [PP from [NP cities [PP with [NP smog]]]]]\n(4) [NP [PP [NP [PP [NP smog] with] cities] from] buildings]\n(5) [NP buildings [PP [NP cities [PP [NP smog] with]] from]]\n(6) [NP [PP from [NP [PP with [NP smog]] cities]] buildings]\nTogether, these two skeleton rules form a recursive rule set because each calls the other. Ignoring the flexible version of these two rules, we get the four possible recursive rule sets shown in Table 2. Using these rules sets we can generate the complex noun phrases seen in (3)-(6): \nThe first two rules sets from Table 2 generate recursively consistent structures that are either right-branching (as in 3) or left-branching (as in 4). The prepositions and postpositions, respectively, are always in close proximity to their noun complements, making it easier for a sequence learner to discover their relationship. In contrast, the final two rule sets generate recursively inconsistent structures, involving center-embeddings: all nouns are either stacked up before all the postpositions (5) or after all the prepositions (6). In both cases, the learner has to work out that from and cities together form a prepositional phrase, despite being separated from each other by another prepositional phrase involving with and smog. This process is further complicated by an increase in memory load caused by the intervening prepositional phrase. From a sequence learning perspective, it should therefore be easier to acquire the recursively consistent structure found in (3) and (4) compared with the recursively inconsistent structure in (5) and (6). Indeed, all the simulation runs in Reali and Christiansen resulted in languages in which both recursive rule sets were consistent.\nChristiansen and Devlin had previously shown that SRNs perform better on recursively consistent structure (such as those in 3 and 4). However, if human language has adapted by way of cultural evolution to avoid recursive inconsistencies (such as 5 and 6), then we should expect people to be better at learning recursively consistent artificial languages than recursively inconsistent ones. Reeder, following initial work by Christiansen, tested this prediction by exposing participants to one of two artificial languages, generated by the artificial grammars shown in Table 3. Notice that the consistent grammar instantiates a left-branching grammar from the grammar skeleton used by Reali and Christiansen, involving two recursively consistent rule sets (rules 2-3 and 5-6). The inconsistent grammar differs only in the direction of two rules (3 and 5), which are right-branching, whereas the other three rules are left-branching. The languages were instantiated using 10 spoken non-words to generate the sentences to which the participants were exposed. Participants in the two language conditions would see sequences of the exact same lexical items, only differing in their order of occurrence as dictated by the respective grammar (e.g., consistent: jux vot hep vot meep nib vs. inconsistent: jux meep hep vot vot nib). After training, the participants were presented with a new set of sequences, one by one, for which they were asked to judge whether or not these new items were generated by the same rules as the ones they saw previously. Half of the new items incorporated subtle violations of the sequence ordering (e.g., grammatical: cav hep vot lum meep nib vs. ungrammatical: cav hep vot rud meep nib, where rud is ungrammatical in this position).\nThe results of this artificial language learning experiment showed that the consistent language was learned significantly better (61.0% correct classification) than the inconsistent one (52.7%). It is important to note that because the consistent grammar was left-branching (and thus more like languages such as Japanese and Hindi), knowledge of English cannot explain the results. Indeed, if anything, the two right-branching rules in the inconsistent grammar bring that language closer to English3. To further demonstrate that the preferences for consistently recursive sequences is a domain-general bias, Reeder conducted a second experiment, in which the sequences were instantiated using black abstract shapes that cannot easily be verbalized. The results of the second study closely replicated those of the first, suggesting that there may be general sequence learning biases that favor recursively consistent structures, as predicted by Reali and Christiansen's evolutionary simulations.\nThe question remains, though, whether such sequence learning biases can drive cultural evolution of language in humans. That is, can sequence-learning constraints promote the emergence of language-like structure when amplified by processes of cultural evolution? To answer this question, Cornish et al. (under review) conducted an iterated sequence learning experiment, modeled on previous human iterated learning studies involving miniature language input (Kirby et al.,). Participants were asked to participate in a memory experiment, in which they were presented with 15 consonant strings. Each string was presented briefly on a computer screen after which the participants typed it in. After multiple repetitions of the 15 strings, the participants were asked to recall all of them. They were requested to continue recalling items until they had provided 15 unique strings. The recalled 15 strings were then recoded in terms of their specific letters to avoid trivial biases such as the location of letters on the computer keyboard and the presence of potential acronyms (e.g., X might be replaced throughout by T, T by M, etc.). The resulting set of 15 strings (which kept the same underlying structure as before recoding) was then provided as training strings for the next participant. A total of 10 participants were run within each \"evolutionary\" chain.\nThe initial set of strings used for the first participant in each chain was created so as to have minimal distributional structure (all consonant pairs, or bigrams, had a frequency of 1 or 2). Because recalling 15 arbitrary strings is close to impossible given normal memory constraints, it was expected that many of the recalled items would be strongly affected by sequence learning biases. The results showed that as these sequence biases became amplified across generations of learners, the sequences gained more and more distributional structure (as measured by the relative frequency of repeated two- and three-letter units). Importantly, the emerging system of sequences became more learnable. Initially, participants could only recall about 4 of the 15 strings correctly but by the final generation this had doubled, allowing participants to recall more than half the strings. Importantly, this increase in learnability did not evolve at the cost of string length: there was no decrease across generations. Instead, the sequences became easy to learn and recall because they formed a system, allowing subsequences to be reused productively. Using network analyses (see Baronchelli et al.,, for a review), Cornish et al. demonstrated that the way in which this productivity was implemented strongly mirrored that observed for child-directed speech.\nThe results from Cornish et al. (under review) suggest that sequence learning constraints, as those explored in the simulations by Reali and Christiansen and demonstrated by Reeder, can give rise to language-like distributional regularities that facilitate learning. This supports our hypothesis that sequential learning constraints, amplified by cultural transmission, could have shaped language into what we see today, including its limited use of embedded recursive structure. Next, we shall extend this approach to show how the same sequence learning constraints that we hypothesized to have shaped important aspects of the cultural evolution of recursive structures also can help explain specific patterns in the processing of complex recursive constructions.\nSo far, we have discussed converging evidence supporting the theory that language in important ways relies on evolutionarily prior neural mechanisms for sequence learning. But can a domain-general sequence learning device capture the ability of humans to process the kind of complex recursive structures that has been argued to require powerful grammar formalisms (e.g., Chomsky,; Shieber,; Stabler,; Jager and Rogers,)? From our usage-based perspective, the answer does not necessarily require the postulation of recursive mechanisms as long as the proposed mechanisms can deal with the level of complex recursive structure that humans can actually process. In other words, what needs to be accounted for is the empirical evidence regarding human processing of complex recursive structures, and not theoretical presuppositions about recursion as a stipulated property of our language system.\nChristiansen and MacDonald conducted a set of computational simulations to determine whether a sequence-learning device such as the SRN would be able to capture human processing performance on complex recursive structures. Building on prior work by Christiansen and Chater, they focused on the processing of sentences with center-embedded and cross-dependency structures. These two types of recursive constructions produce multiple overlapping non-adjacent dependencies, as illustrated in Figure 1, resulting in rapidly increasing processing difficulty as the number of embeddings grows. We have already discussed earlier how performance on center-embedded constructions breaks down at two levels of embedding (e.g., Wang,; Hamilton and Deese,; Blaubergs and Braine,; Hakes et al.,). The processing of cross-dependencies, which exist in Swiss-German and Dutch, has received less attention, but the available data also point to a decline in performance with increased levels of embedding (Bach et al.,; Dickey and Vonk,). Christiansen and MacDonald trained networks on sentences derived from one of the two grammars shown in Table 4. Both grammars contained a common set of recursive structures: right-branching recursive structure in the form of prepositional modifications of noun phrases, noun phrase conjunctions, subject relative clauses, and sentential complements; left-branching recursive structure in the form of prenominal possessives. The grammars furthermore had three additional verb argument structures (transitive, optionally transitive, and intransitive) and incorporated agreement between subject nouns and verbs. As illustrated by Table 4, the only difference between the two grammars was in the type of complex recursive structure they contained: center-embedding vs. cross-dependency.\nThe grammars could generate a variety of sentences, with varying degree of syntactic complexity, from simple transitive sentences (such as 7) to more complex sentences involving different kinds of recursive structure (such as 8 and 9).\n(7) John kisses Mary.\n(8) Mary knows that John's boys' cats see mice.\n(9) Mary who loves John thinks that men say that girls chase boys.\nThe generation of sentences was further restricted by probabilistic constraints on the complexity and depth of recursion. Following training on either grammar, the networks performed well on a variety of recursive sentence structures, demonstrating that the SRNs were able to acquire complex grammatical regularities (see also Christiansen,)4. The networks acquired sophisticated abilities for generalizing across constituents in line with usage-based approaches to constituent structure (e.g., Beckner and Bybee,; see also Christiansen and Chater,). Differences between networks were observed, though, on their processing of the complex recursive structure permitted by the two grammars.\nTo model human data on the processing of center-embedding and cross-dependency structures, Christiansen and MacDonald relied on a study conducted by Bach et al. in which sentences with two center-embeddings in German were found to be significantly harder to process than comparable sentences with two cross-dependencies in Dutch. Bach et al. asked native Dutch speakers to rate the comprehensibility of Dutch sentences involving varying depths of recursive structure in the form of cross-dependency constructions and corresponding right-branching paraphrase sentences with similar meaning. Native speakers of German were tested using similar materials in German, where center-embedded constructions replaced the cross-dependency constructions. To remove potential effects of processing difficulty due to length, the ratings from the right-branching paraphrase sentences were subtracted from the complex recursive sentences. Figure 2 shows the results of the Bach et al. study on the left-hand side.\nSRN performance was scored in terms of Grammatical Prediction Error (GPE; Christiansen and Chater,), which measures the network's ability to make grammatically correct predictions for each upcoming word in a sentence, given prior context. The right-hand side of Figure 2 shows the mean sentence GPE scores, averaged across 10 novel sentences. Both humans and SRNs show similar qualitative patterns of processing difficulty (see also Christiansen and Chater,). At a single level of embedding, there is no difference in processing difficulty. However, at two levels of embedding, cross-dependency structures (in Dutch) are processed more easily than comparable center-embedded structures (in German).\nChristiansen and MacDonald demonstrated that a sequence learner such as the SRN is able to mirror the differential human performance on center-embedded and cross-dependency recursive structures. Notably, the networks were able to capture human performance without the complex external memory devices (such as a stack of stacks; Joshi,) or external memory constraints (Gibson,) required by previous accounts. The SRNs ability to mimic human performance likely derives from a combination of intrinsic architectural constraints (Christiansen and Chater,) and the distributional properties of the input to which it has been exposed (MacDonald and Christiansen,; see also Christiansen and Chater, Forthcoming). Christiansen and Chater analyzed the hidden unit representations of the SRN:its internal state:before and after training on recursive constructions and found that these networks have an architectural bias toward local dependencies, corresponding to those found in right-branching recursion. To process multiple instances of such recursive constructions, however, the SRN needs exposure to the relevant types of recursive structures. This exposure is particularly important when the network has to process center-embedded constructions because the network must overcome its architectural bias toward local dependencies. Thus, recursion is not a built-in property of the SRN; instead, the networks develop their human-like abilities for processing recursive constructions through repeated exposure to the relevant structures in the input.\nAs noted earlier, this usage-based approach to recursion differs from many previous processing accounts, in which unbounded recursion is implemented as part of the representation of linguistic knowledge (typically in the form of a rule-based grammar). Of course, this means that systems of the latter kind can process complex recursive constructions, such as center-embeddings, beyond human capabilities. Since Miller and Chomsky, the solution to this mismatch has been to impose extrinsic memory limitations exclusively aimed at capturing human performance limitations on doubly center-embedded constructions (e.g., Kimball,; Marcus,; Church,; Just and Carpenter,; Stabler,; Gibson and Thomas,; Gibson,; see Lewis et al.,, for a review).\nTo further investigate the nature of the SRN's intrinsic constraints on the processing of multiple center-embedded constructions, Christiansen and MacDonald explored a previous result from Christiansen and Chater showing that SRNs found ungrammatical versions of doubly center-embedded sentences with a missing verb more acceptable than their grammatical counterparts5 (for similar SRN results, see Engelmann and Vasishth,). A previous offline rating study by Gibson and Thomas found that when the middle verb phrase (was cleaning every week) was removed from (10), the resulting ungrammatical sentence in (11) was rated no worse than the grammatical version in (10).\n(10) The apartment that the maid who the service had sent over was cleaning every week was well decorated.\n(11) *The apartment that the maid who the service had sent over was well decorated.\nHowever, when Christiansen and MacDonald tested the SRN on similar doubly center-embedded constructions, they obtained predictions for (11) to be rated better than (10). To test these predictions, they elicited on-line human ratings for the stimuli from the Gibson and Thomas study using a variation of the \"stop making sense\" sentence-judgment paradigm (Boland et al.,; Boland,). Participants read a sentence, word-by-word, while at each step they decided whether the sentence was grammatical or not. Following the presentation of each sentence, participants rated it on a 7-point scale according to how good it seemed to them as a grammatical sentence of English (with 1 indicating that the sentence was \"perfectly good English\" and 7 indicating that it was \"really bad English\"). As predicted by the SRN, participants rated ungrammatical sentences such as (11) as better than their grammatical counterpart exemplified in (10).\nThe original stimuli from the Gibson and Thomas study had certain shortcomings that could have affected the outcome of the online rating experiment. Firstly, there were substantial length differences between the ungrammatical and grammatical versions of a given sentence. Secondly, the sentences incorporated semantic biases making it easier to line up a subject noun with its respective verb (e.g., apartment-decorated, service-sent over in 10). To control for these potential confounds, Christiansen and MacDonald replicated the experiment using semantically-neutral stimuli controlled for length (adapted from Stolz,), as illustrated by (12) and (13).\n(12) The chef who the waiter who the busboy offended appreciated admired the musicians.\n(13) *The chef who the waiter who the busboy offended frequently admired the musicians.\nThe second online rating experiment yielded the same results as the first, thus replicating the \"missing verb\" effect. These results have subsequently been confirmed by online ratings in French (Gimenes et al.,) and a combination of self-paced reading and eye-tracking experiments in English (Vasishth et al.,). However, evidence from German (Vasishth et al.,) and Dutch (Frank et al.,) indicates that speakers of these languages do not show the missing verb effect but instead find the grammatical versions easier to process. Because verb-final constructions are common in German and Dutch, requiring the listener to track dependency relations over a relatively long distance, substantial prior experience with these constructions likely has resulted in language-specific processing improvements (see also Engelmann and Vasishth,; Frank et al.,, for similar perspectives). Nonetheless, in some cases the missing verb effect may appear even in German, under conditions of high processing load (Trotzke et al.,). Together, the results from the SRN simulations and human experimentation support our hypothesis that the processing of center-embedded structures are best explained from a usage-based perspective that emphasizes processing experience with the specific statistical properties of individual languages. Importantly, as we shall see next, such linguistic experience interacts with sequence learning constraints.\nPrevious studies have suggested that the processing of singly embedded relative clauses are determined by linguistic experience, mediated by sequence learning skills (e.g., Wells et al.,; Misyak et al.,; see Christiansen and Chater, Forthcoming, for discussion). Can our limited ability to process multiple complex recursive embeddings similarly be shown to reflect constraints on sequence learning? The embedding of multiple complex recursive structures:whether in the form of center-embeddings or cross-dependencies:results in several pairs of overlapping non-adjacent dependencies (as illustrated by Figure 1). Importantly, the SRN simulation results reported above suggest that a sequence learner might also be able to deal with the increased difficulty associated with multiple, overlapping non-adjacent dependencies.\nDealing appropriately with multiple non-adjacent dependencies may be one of the key defining characteristics of human language. Indeed, when a group of generativists and cognitive linguists recently met to determine what is special about human language (Tallerman et al.,), one of the few things they could agree about was that long-distance dependencies constitute one of the hallmarks of human language, and not recursion (contra Hauser et al.,). de Vries et al. used a variation of the AGL-SRT task (Misyak et al.,) to determine whether the limitations on processing of multiple non-adjacent dependencies might depend on general constraints on human sequence learning, instead of being unique to language. This task incorporates the structured, probabilistic input of artificial grammar learning (AGL; e.g., Reber,) within a modified two-choice serial reaction-time (SRT; Nissen and Bullemer,) layout. In the de Vries et al. study, participants used the computer mouse to select one of two written words (a target and a foil) presented on the screen as quickly as possible, given auditory input. Stimuli consisted of sequences with two or three non-adjacent dependencies, ordered either using center-embeddings or cross-dependencies. The dependencies were instantiated using a set of dependency pairs that were matched for vowel sounds: ba-la, yo-no, mi-di, and wu-tu. Examples of each of the four types of stimuli are presented in (14-17), where the subscript numbering indicates dependency relationships.\n(14) ba1 wu2 tu2 la1\n(15) ba1 wu2 la1 tu2\n(16) ba1 wu2 yo3 no3 tu2 la1\n(17) ba1 wu2 yo3 la1 tu2 no3\nThus, (14) and (16) implement center-embedded recursive structure and (15) and (17) involve cross-dependencies. Participants would only be exposed to one of the four types of stimuli. To determine the potential effect of linguistic experience on the processing of complex recursive sequence structure, study participants were either native speakers of German (which has center-embedding but not cross-dependencies) or Dutch (which has cross-dependencies). Participants were only exposed to one kind of stimulus, e.g., doubly center-embedded sequences as in (16) in a fully crossed design (length x embedding x native language).\nde Vries et al. first evaluated learning by administering a block of ungrammatical sequences in which the learned dependencies were violated. As expected, the ungrammatical block produced a similar pattern of response slow-down for both for both center-embedded and cross-dependency items involving two non-adjacent dependencies (similar to what Bach et al.,, Bach et al., found in the natural language case). However, an analog of the missing verb effect was observed for the center-embedded sequences with three non-adjacencies but not for the comparable cross-dependency items. Indeed, an incorrect middle element in the center-embedded sequences (e.g., where tu is replaced by la in 16) did not elicit any slow-down at all, indicating that participants were not sensitive to violations at this position.\nSequence learning was further assessed using a prediction task at the end of the experiment (after a recovery block of grammatical sequences). In this task, participants would hear a beep replacing one of the elements in the second half of the sequence and were asked to simply click on the written word that they thought had been replaced. Participants exposed to the sequences incorporating two dependencies, performed reasonably well on this task, with no difference between center-embedded and cross-dependency stimuli. However, as for the response times, a missing verb effect was observed for the center-embedded sequences with three non-adjacencies. When the middle dependent element was replaced by a beep in center-embedded sequences (e.g., ba1 wu2 yo3 no3<beep> la1), participants were more likely to click on the foil (e.g., la) than the target (tu). This was not observed for the corresponding cross-dependency stimuli, once more mirroring the Bach et al. psycholinguistic results that multiple cross-dependencies are easier to process than multiple center-embeddings.\nContrary to psycholinguistic studies of German (Vasishth et al.,) and Dutch (Frank et al.,), de Vries et al. found an analog of the missing verb effect in speakers of both languages. Because the sequence-learning task involved non-sense syllables, rather than real words, it may not have tapped into the statistical regularities that play a key role in real-life language processing6. Instead, the results reveal fundamental limitations on the learning and processing of complex recursively structured sequences. However, these limitations may be mitigated to some degree, given sufficient exposure to the \"right\" patterns of linguistic structure:including statistical regularities involving morphological and semantic cues:and thus lessening sequence processing constraints that would otherwise result in the missing verb effect for doubly center-embedded constructions. Whereas the statistics of German and Dutch appear to support such amelioration of language processing, the statistical make-up of linguistic patterning in English and French apparently does not. This is consistent with the findings of Frank et al., demonstrating that native Dutch and German speakers show a missing verb effect when processing English (as a second language), even though they do not show this effect in their native language (except under extreme processing load, Trotzke et al.,). Together, this pattern of results suggests that the constraints on human processing of multiple long-distance dependencies in recursive constructions stem from limitations on sequence learning interacting with linguistic experience.\nIn this extended case study, we argued that our ability to process of recursive structure does not rely on recursion as a property of the grammar, but instead emerges gradually by piggybacking on top of domain-general sequence learning abilities. Evidence from genetics, comparative work on non-human primates, and cognitive neuroscience suggests that humans have evolved complex sequence learning skills, which were subsequently pressed into service to accommodate language. Constraints on sequence learning therefore have played an important role in shaping the cultural evolution of linguistic structure, including our limited abilities for processing recursive structure. We have shown how this perspective can account for the degree to which humans are able to process complex recursive structure in the form of center-embeddings and cross-dependencies. Processing limitations on recursive structure derive from constraints on sequence learning, modulated by our individual native language experience.\nWe have taken the first steps toward an evolutionarily-informed usage-based account of recursion, where our recursive abilities are acquired piecemeal, construction by construction, in line with developmental evidence. This perspective highlights the key role of language experience in explaining cross-linguistic similarities and dissimilarities in the ability to process different types of recursive structure. And although, we have focused on the important role of sequence learning in explaining the limitations of human recursive abilities, we want to stress that language processing, of course, includes other domain-general factors. Whereas distributional information clearly provides important input to language acquisition and processing, it is not sufficient, but must be complemented by numerous other sources of information, from phonological and prosodic cues to semantic and discourse information (e.g., Christiansen and Chater,, Forthcoming). Thus, our account is far from complete but it does offer the promise of a usage-based perspective of recursion based on evolutionary considerations.\nIn this paper, we have argued that there are theoretical reasons to suppose that special-purpose biological machinery for language can be ruled out on evolutionary grounds. A possible counter-move adopted by the minimalist approach to language is to suggest that the faculty of language is very minimal and only consists of recursion (e.g., Hauser et al.,; Chomsky,). However, we have shown that capturing human performance on recursive constructions does not require an innate mechanism for recursion. Instead, we have suggested that the variation in processing of recursive structures as can be observed across individuals, development and languages is best explained by domain-general abilities for sequence learning and processing interacting with linguistic experience. But, if this is right, it becomes crucial to provide explanations for the puzzling aspects of language that were previously used to support the case for a rich innate language faculty: (1) the poverty of the stimulus, (2) the eccentricity of language, (3) language universals, (4) the source of linguistic regularities, and (5) the uniqueness of human language. In the remainder of the paper, we therefore address each of these five challenges, in turn, suggesting how they may be accounted for without recourse to anything more than domain-general constraints.\nOne traditional motivation for postulating an innate language faculty is the assertion that there is insufficient information in the child's linguistic environment for reliable language acquisition to be possible (Chomsky,). If the language faculty has been pared back to consist only of a putative mechanism for recursion, then this motivation no longer applies:the complex patterns in language which have been thought to pose challenges of learnability concern highly specific properties of language (e.g., concerning binding constraints), which are not resolved merely by supplying the learner with a mechanism for recursion.\nBut recent work provides a positive account of how the child can acquire language, in the absence of an innate language faculty, whether minimal or not. One line of research has shown, using computational results from language corpora and mathematical analysis, that learning methods are much more powerful than had previously been assumed (e.g., Manning and Schutze,; Klein and Manning,; Chater and Vitanyi,; Hsu et al.,; Chater et al.,). But more importantly, viewing language as a culturally evolving system, shaped by the selectional pressures from language learners, explains why language and languages learners fit together so closely. In short, the remarkable phenomenon of language acquisition from a noisy and partial linguistic input arises from a close fit between the structure of language and the structure of the language learner. However, the origin of this fit is not that the learner has somehow acquired a special-purpose language faculty embodying universal properties of human languages, but, instead, because language has been subject to powerful pressures of cultural evolution to match, as well as possible, the learning and processing mechanism of its speakers (e.g., as suggested by Reali and Christiansen's,, simulations). In short, the brain is not shaped for language; language is shaped by the brain (Christiansen and Chater,).\nLanguage acquisition can overcome the challenges of the poverty of the stimulus without recourse to an innate language faculty, in light both of new results on learnability, and the insight that language has been shaped through processes of cultural evolution to be as learnable as possible.\nFodor argue that the generalizations found in language are so different from those evident in other cognitive domains, that they can only be subserved by highly specialized cognitive mechanisms. But the cultural evolutionary perspective that we have outlined here suggests, instead, that the generalizations observed in language are not so eccentric after all: they arise, instead, from a wide variety of cognitive, cultural, and communicative constraints (e.g., as exemplified by our extended case study of recursion). The interplay of these constraints, and the contingencies of many thousands of years of cultural evolution, is likely to have resulted in the apparently baffling complexity of natural languages.\nAnother popular motivation for proposing an innate language faculty is to explain putatively universal properties across all human languages. Such universals can be explained as consequences of the innate language faculty:and variation between languages has often been viewed as relatively superficial, and perhaps as being determined by the flipping of a rather small number of discrete \"switches,\" which differentiate English, Hopi and Japanese (e.g., Lightfoot,; Baker,; Yang,).\nBy contrast, we see \"universals\" as products of the interaction between constraints deriving from the way our thought processes work, from perceptuo-motor factors, from cognitive limitations on learning and processing, and from pragmatic sources. This view implies that most universals are unlikely to be found across all languages; rather, \"universals\" are more akin to statistical trends tied to patterns of language use. Consequently, specific universals fall on a continuum, ranging from being attested to only in some languages to being found across most languages. An example of the former is the class of implicational universals, such as that verb-final languages tend to have postpositions (Dryer,), whereas the presence of nouns and verbs (minimally as typological prototypes; Croft,) in most, though perhaps not all (Evans and Levinson,), languages is an example of the latter.\nIndividual languages, on our account, are seen as evolving under the pressures from multiple constraints deriving from the brain, as well as cultural-historical factors (including language contact and sociolinguistic influences), resulting over time in the breathtaking linguistic diversity that characterize the about 6-8000 currently existing languages (see also Dediu et al.,). Languages variously employ tones, clicks, or manual signs to signal differences in meaning; some languages appear to lack the noun-verb distinction (e.g., Straits Salish), whereas others have a proliferation of fine-grained syntactic categories (e.g., Tzeltal); and some languages do without morphology (e.g., Mandarin), while others pack a whole sentence into a single word (e.g., Cayuga). Cross-linguistically recurring patterns do emerge due to similarity in constraints and culture/history, but such patterns should be expected to be probabilistic tendencies, not the rigid properties of a universal grammar (Christiansen and Chater,). From this perspective it seems unlikely that the world's languages will fit within a single parameterized framework (e.g., Baker,), and more likely that languages will provide a diverse, and somewhat unruly, set of solutions to a hugely complex problem of multiple constraint satisfaction, as appears consistent with research on language typology (Comrie,; Evans and Levinson,; Evans,). Thus, we construe recurring patterns of language along the lines of Wittgenstein's notion of \"family resemblance\": although there may be similarities between pairs of individual languages, there is no single set of features common to all.\nEven if the traditional conception of language universals is too strict, the challenge remains: in the absence of a language faculty, how can we explain why language is orderly at all? How is it that the processing of myriads of different constructions have not created a chaotic mass of conflicting conventions, but a highly, if partially, structured system linking form and meaning?\nThe spontaneous creation of tracks in a forest provides an interesting analogy (Christiansen and Chater,). Each time an animal navigates through the forest, it is concerned only with reaching its immediate destination as easily as possible. But the cumulative effect of such navigating episodes, in breaking down vegetation and gradually creating a network of paths, is by no means chaotic. Indeed, over time, we may expect the pattern of tracks to become increasingly ordered: kinks will be become straightened; paths between ecological salient locations (e.g., sources of food, shelter or water) will become more strongly established; and so on. We might similarly suspect that language will become increasingly ordered over long periods of cultural evolution.\nWe should anticipate that such order should emerge because the cognitive system does not merely learn lists of lexical items and constructions by rote; it generalizes from past cases to new cases. To the extent that the language is a disordered morass of competing and inconsistent regularities, it will be difficult to process and difficult to learn. Thus, the cultural evolution of language, both within individuals and across generations of learners, will impose a strong selection pressure on individual lexical items and constructions to align with each other. Just as stable and orderly forest tracks emerge from the initially arbitrary wanderings of the forest fauna, so an orderly language may emerge from what may, perhaps, have been the rather limited, arbitrary and inconsistent communicative system of early \"proto-language.\" In particular, for example, the need to convey an unlimited number of messages will lead to a drive to recombine linguistic elements is systematic ways, yielding increasingly \"compositional\" semantics, in which the meaning of a message is associated with the meaning of its parts, and the way in which they are composed together (e.g., Kirby,).\nThere appears to be a qualitative difference between communicative systems employed by non-human animals, and human natural language: one possible explanation is that humans, alone, possess an innate faculty for language. But human \"exceptionalism\" is evident in many domains, not just in language; and, we suggest, there is good reason to suppose that what makes humans special concerns aspect of our cognitive and social behavior, which evolved prior to the emergence of language, but made possible the collective construction of natural languages through long processes of cultural evolution.\nA wide range of possible cognitive precursors for language have been proposed. For example, human sequence processing abilities for complex patterns, described above, appear significantly to outstrip processing abilities of non-human animals (e.g., Conway and Christiansen,). Human articulatory machinery may be better suited to spoken language than that of other apes (e.g., Lieberman,). And the human abilities to understand the minds of others (e.g., Call and Tomasello,) and to share attention (e.g., Knoblich et al.,) and to engage in joint actions (e.g., Bratman,), may all be important precursors for language.\nNote, though, that from the present perspective, language is continuous with other aspects of culture:and almost all aspects of human culture, from music and art to religious ritual and belief, moral norms, ideologies, financial institutions, organizations, and political structures are uniquely human. It seems likely that such complex cultural forms arise through long periods of cultural innovation and diffusion, and that the nature of such propagation depends will depend on a multitude of historical, sociological, and, most likely, a host of cognitive factors (e.g., Tomasello,; Richerson and Christiansen,). Moreover, we should expect that different aspects of cultural evolution, including the evolution of language, will be highly interdependent. In the light of these considerations, once the presupposition that language is sui generis and rooted in a genetically-specified language faculty is abandoned, there seems little reason to suppose that there will be a clear-cut answer concerning the key cognitive precursors for human language, any more than we should expect to be able to enumerate the precursors of cookery, dancing, or agriculture.\nPrior to the seismic upheavals created by the inception of generative grammar, language was generally viewed as a paradigmatic, and indeed especially central, element of human culture. But the meta-theory of the generative approach was taken to suggest a very different viewpoint: that language is primarily a biological, rather than a cultural, phenomenon: the knowledge of the language was seen not as embedded in a culture of speakers and hearers, but primarily in a genetically-specified language faculty.\nWe suggest that, in light of the lack of a plausible evolutionary origin for the language faculty, and a re-evaluation of the evidence for even the most minimal element of such a faculty, the mechanism of recursion, it is time to return to viewing language as a cultural, and not a biological, phenomenon. Nonetheless, we stress that, like other aspects of culture, language will have been shaped by human processing and learning biases. Thus, understanding the structure, acquisition, processing, and cultural evolution of natural language requires unpicking how language has been shaped by the biological and cognitive properties of the human brain.\nThe authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest.",
"gender": "Female"
}
] |
PMC4550780
|
[
{
"age": 72,
"case_id": "PMC5987309_01",
"case_text": "A 72-year-old male with a past medical history of quadriplegia, hypertension, hyperlipidemia, neurogenic bladder, type 2 diabetes mellitus, chronic obstructive pulmonary disease, and chronic hepatitis presented to the emergency department with an acute change in mental status. He was a full-time resident at an assisted living nursing home, and his baseline mental status was awake, alert, and oriented to person, place, and time (AAOx3). Upon arrival in the emergency department, he was oriented only to self. Prior to this admission, the patient was being treated for a urinary tract infection and was on day seven of nitrofurantoin and cefepime. On examination, he was hypotensive at a blood pressure of 81/59 mmHg, pulse rate of 115 beats per minute, respiratory rate of 21 breaths per minute, and oxygen saturation of 78% while breathing ambient air. He was in visible respiratory distress and was lethargic, but arousable. He received a nebulizer treatment and was placed on a non-rebreather mask at 6 liters, after which his oxygen saturation rose to 99%. A chest X-ray was taken and revealed left lower lobe pneumonia. His urinalysis was positive for an infection despite current antibiotic compliance. He began vancomycin and piperacillin/tazobactam for health care-associated pneumonia and was admitted to the ICU. Respiratory status worsened, and he required intubation.\nDespite these interventions, on his second day of admission, he continued to have copious clear secretions. Pulmonology diagnosed him with aspiration pneumonia and sputum cultures were obtained, which demonstrated moderate white blood cells, rare epithelial cells, few Gram-positive cocci in clusters, and rare yeast. His antibiotics were adjusted for sensitivities to vancomycin and meropenem. To further evaluate his ongoing pulmonary issues, a chest CT scan was obtained, revealing increasing bilateral pleural effusions and patchy sclerotic foci concerning for possible bone metastases, enlarged mediastinal lymph nodes, and nodular infiltrate in the right mid- and upper lung fields. Gastroenterology was consulted for colonoscopy to identify a primary tumor, but the patient was deemed too unstable for a nonemergent procedure. Thoracocentesis revealed exudative pleural effusions negative for malignancy. Abdominal and pelvic CT demonstrated hydronephrosis and a right-sided staghorn renal calculus but no masses.\nWith these interventions, our patient began to improve, yet daily sedation interruptions and spontaneous breathing trials failed. Initial blood culture results showed Gram-positive bacilli, and further speciation of the organism was requested. On day 13, blood cultures were finalized and grew Clostridium subterminale. Sputum and stool testing showed Pseudomonas aeruginosa and Clostridium difficile, so metronidazole was started. Gastroenterology again stated that the patient was too unstable for colonoscopy and suggested a bone biopsy, which he underwent the following day. The preliminary pathology report stated that the bone biopsy was likely malignant adenocarcinoma, which was confirmed on hospital day 21. Biopsy indicated that the tumor was positive for markers CK7 and CA19-9; primary sites with this immunophenotypic profile include the upper GI tract and pancreaticobiliary system. Carcinoembryonic antigen (CEA) was elevated at 73.8 (normal CEA nonsmokers < 5.1; smokers < 6.6) and CA19-9 was 3,146 (normal < 45). Per oncology, he was not a candidate for any interventions due to his comorbidities.\nOn day 23, he had increasing secretions and was agitated despite completion of his antibiotic course. The patient's three daughters decided on terminal extubation, and comfort measures were initiated. At 21 : 12 on hospital day 23, the patient was pronounced dead.",
"gender": "Male"
}
] |
PMC5987309
|
[
{
"age": 61,
"case_id": "PMC5337835_01",
"case_text": "The patient is a 61-year-old male with end stage renal disease from hypertension with cadaveric renal transplant recipient who developed acute decompensated liver cirrhosis from viral hepatitis C after transplant.\nTwo months after transplant, he had several episodes of gastrointestinal bleeding, urinary tract infections, and cardiac arrest with acute allograft dysfunction requiring renal replacement therapies. His mycophenolate mofetil was held. The transplant kidney biopsy showed evidence of acute cellular rejection with acute tubular necrosis that was treated with high-dose steroids. However, his allograft function never recovered and he required supportive hemodialysis. He also developed Kluyvera bacteremia followed by VRE bacteremia.\nFour months after transplant, the patient presented with altered mental status and severe volume overload. On admission, the patient was lethargic, afebrile, and normotensive but tachycardic. Physical examination revealed severe anasarca and asterixis with no focal deficit. Diagnosis of metabolic encephalopathy was entertained. Urgent hemodialysis for uremia was started. His lactulose was increased for presumed hepatic encephalopathy without any improvement.\nOn the 5th hospital day, the patient suddenly became unresponsive, hypotensive with shock, hypoxic, and febrile. He was intubated and started on vasopressors. Chest X-ray showed left lower lobe consolidation, but did not reveal cardiomegaly. His ECG showed diffuse ST segment elevations. PR segment depressions, electrical alternans, and low QRS voltage were absent. Transthoracic echocardiogram showed moderate size pericardial effusion localized circumferentially. This was accompanied by right ventricular compression with tamponade physiology. The patient had emergent pericardiocentesis with pericardial drain placement. A total of 320 ml of purulent fluid was drained. His blood pressure improved and he was taken off vasopressors. He was also started on daptomycin and cefepime.\nOn the 6th hospital day, the patient continued to be lethargic. A CT scan of the head showed evidence of multifocal infarctions. Subsequent MRI of the brain revealed multiple septic emboli (Figure 1). These results raised suspicion of infective endocarditis for which a transesophageal echocardiogram (TEE) was performed. TEE showed possible small mitral valve vegetations (Figure 2) and resolution of the pericardial effusion. Blood cultures grew vancomycin-resistant Enterococcus faecium. The hemodialysis catheter was changed over the wire and culture of the catheter tip was subsequently found to be negative. Cefepime was switched to ceftaroline for better daptomycin binding to bacterial membrane.\nOn the 7th hospital day, mold grew in pericardial fluid culture. Amphotericin B was initiated to cover both Aspergillus and Mucor. The patient continued to clinically deteriorate and went into septic shock. The family gave him a do-not-resuscitate status and he expired on the 7th hospital day. The mold was eventually identified as Aspergillus fumigatus 10 days after the patient died.\nCardiac aspergillosis remains a diagnostic challenge especially without prior established pulmonary aspergillosis. A high degree clinical suspicion on an immunocompromised patient is needed to direct the clinical investigation. There are currently thirty-two cases of pericardial aspergillosis found in literature. Eight had clinical signs of cardiac tamponade. Only three, including our case, did not have established pulmonary or other forms of aspergillosis. Most diagnoses were postmortem. Only six out of the thirty-two were cured.\nAmong patients predisposed to aspergillosis, cancer is the most common underlying medical condition (44%), followed by bone marrow transplant (25%), solid-organ transplant (13%), HIV/AIDS (3.8), autoimmune (2%), and systemic steroid use (3.5%). Our patient is a renal transplant patient with concurrent immunosuppressant use. His clinical course was complicated by acute decompensated liver cirrhosis, acute renal allograft dysfunction, and severe infections within two months of renal transplant. These extensive comorbidities made him susceptible to opportunistic infections. Four months after his renal transplant, he had aspergillosis pericarditis with tamponade that eventually led to his demise.\nWeiland et al. studied the clinical pattern of aspergillosis in renal transplant patients. The median time between aspergillosis infection and transplantation was found to be three and a half months. For patients with history of acute rejection, aspergillosis occurred within two months of treatment of acute rejection. These data are consistent with the clinical course of our patient. Weiland et al. also found that aspergillosis took place alongside other illnesses. The most common associated infection was CMV followed by bacterial infections. One-fourth of patients affected were also multiple transplant recipients. Weiland et al. concluded that for renal transplant patients, patients with CMV, recent acute rejection and recipients of multiple transplants appear to be more susceptible to aspergillosis.\nThe clinical features of cardiac aspergillosis are nonspecific and often depend on which part of the heart is involved. Myocardial aspergillosis is the most common form of the infection and can account to up to 83% of cases. It may occur alone but often with endocarditis or pericarditis. It is often asymptomatic, although it can manifest as a conduction abnormality and is usually diagnosed during autopsy.\nAspergillosis endocarditis occurs in 17% of patients and presents as fever, embolic episodes, or heart murmur. Unlike Aspergillus endocarditis where large vegetations are easily seen in echocardiography, myocardial or pericardial aspergillosis are harder to detect. Our patient had septic emboli to the brain, a frequent sequelae of endocarditis. Transesophageal echocardiogram did reveal possible small valvular vegetations. This shows that the patient may have accompanying infective endocarditis. Embolic events in the setting of aspergillosis without significant valvular vegetations may also signify mural endocarditis. Aspergillus mural endocarditis is not always apparent in echocardiograms and may start off as a subendocardial focus before developing into an abscess.\n Aspergillus is difficult to grow in blood cultures. Our hospital uses Bactec Fx culture system and requires 5-7 ml of blood sample per culture bottle. In this patient, a bottle of blood culture on admission did not grow any organism. On day 5, when the patient was clinically deteriorating, repeat blood cultures consisting of two bottles only grew Enterococcus faecium. On day 6, repeat blood cultures again showed no growth in one bottle and E. faecium in the second bottle. It was only in the pericardial fluid fungal culture collected on day 5 that Aspergillus fumigatus was demonstrated and grown.\n Aspergillus pericarditis occurs in multisite infections and is seen in 17% of cardiac aspergillosis. It presents as chest pain, hypotension, tamponade, or pericardial friction rub. In our patient, diffuse ST segment elevations and hypotension pointed towards cardiac tamponade. Before this, his lethargy was attributed to metabolic encephalopathy. The patient, however, quickly deteriorated and eventually expired.\nThe initial therapy for invasive aspergillosis is voriconazole, a broad-spectrum triazole antifungal. It has been shown to be more effective than amphotericin B and is associated with lower mortality rate. Our patient, on the other hand, was started on amphotericin B when pericardial fluid revealed mold. This is to cover for both Aspergillus and Mucor. Mucor is another mold infection that occurs in transplant patients and voriconazole does not have anti-Mucor activity. Furthermore, for patients who have liver disease like ours or for patients who cannot tolerate voriconazole, a lipid formulation of amphotericin B is the next alternative to voriconazole.\nOther treatment strategies involve combination therapy of voriconazole and echinocandins. The combination therapy may be used as primary treatment or as salvage therapy. The dual therapy was shown to have superior outcomes than voriconazole alone in one study. Echinocandins, however, are not used as initial monotherapy of aspergillosis. They can be used as salvage therapy for those who cannot tolerate or are refractory to triazoles.\nInvasive aspergillosis portends a poor prognosis and has a case fatality rate (CFR) of 58%. The CFR for liver transplant patients is 67.6, while kidney transplant patients' CFR is 62.5%. For pericardial aspergillosis, only six out of thirty-two patients of the cases published in literature have been cured. Factors that contributed to the survival of the six patients were early detection, recovery from immunosuppression, pericardiectomy, and combination antifungal therapy.\nIn conclusion, pericardial aspergillosis is a rare and fatal disease in immunosuppressed patients. It is often insidious and has nonspecific clinical manifestations. A high degree of clinical suspicion is required for early detection and diagnosis. Once diagnosed, aggressive treatment is warranted.",
"gender": "Male"
}
] |
PMC5337835
|
[
{
"age": 34,
"case_id": "PMC8668347_01",
"case_text": "The first patient is a 34-year-old Caucasian female with a past medical history consisting of autoimmune hepatitis, type 1 diabetes mellitus requiring insulin pump, end-stage renal disease, history of deep vein thrombosis, peripheral vascular disease with femoral popliteal bypass, and extensive history of solid organ transplantations (previously underwent 6 organ transplants consisting of 3 kidneys and 3 livers) with the most recent being a simultaneous liver-kidney transplant 20 months prior to presentation. The patient was being maintained on tacrolimus, mycophenolate mofetil, and prednisone for immunosuppression (Table 1). Due to loss of previous graft from rejection, she was maintained on a high-dose triple drug immunosuppressive regimen to prevent recurrence of rejection. One month prior to diagnosis, she presented with acute left leg pain and swelling felt to be secondary to chronic pain from hardware repair of extremity several years ago. She continued to experience extremity pain and was subsequently admitted. On this admission, the patient was taken to the operating room (OR) for fasciotomy (Figure 1). No necrotic tissue was found, and she was sent home with a wound vacuum. Upon follow-up with her outpatient wound clinic, fat necrosis was noted on the affected leg and a debridement was completed. A rapid genetic sequencing swab (MicroGen Diagnostics ) was run at the clinic showing 94% Enterococcus faecalis, 93% Rhizopus oryzae, and 5% Aspergillus flavus. The patient presented to our hospital for further work up of polymicrobial infection and potential invasive fungal disease.\nOn hospital day 2, she was started on intravenous (IV) isavuconazole 372 mg daily and returned to the OR for debridement. Preliminary tissue, fungal, and anaerobic culture reports from the OR grew diphtheroids, Klebsiella oxytoca, Enterococcus faecalis, and an unidentified mould. On hospital day 5, the cultures identified the mould as Rhizopus spp. Intravenous liposomal amphotericin B 3 mg/kg daily was added. The same day she went back to the OR for debridement, and a biopsy sample was sent to pathology. The pathology report confirmed organisms consistent with mucormycosis. On hospital day 15, she went back to the OR for another serial debridement and biopsy. That same day, fungal susceptibilities returned, displaying isavuconazole resistance (Table 2). She was switched to oral posaconazole 300 mg daily and IV micafungin 150 mg daily in addition to amphotericin B. Three days later, her wound vacuum was replaced, and the pathology report showed multifocal fungal elements seen on a Grocott-Gomori's methenamine silver stain consistent with clinical history of 'Mucor/Rhizopus.' There was necrotic tissue with no definite involvement of vessels or margins. Dermal and subcutaneous tissue displayed necrosis, hemorrhage, fibrosis, granulation tissue, and foreign body giant cell reaction. The wound vacuum was left in place, and on hospital day 20, another wound culture grew mould. At this point, given the aggressive nature of the disease, it was decided to utilize amphotericin B deoxycholate irrigation in the wound vacuum and continue systemic antimicrobials. Amphotericin B 50 mg in 1000 mL sterile water for irrigation was added to the Veraflo wound vacuum, and pulse lavages were administered to the affected area twice daily. Nine days later, the patient went back to the OR for another debridement and repeat pathology report from that sample showed no evidence of fungus. The patient received amphotericin wound vacuum irrigation with pulse lavages for a total of 20 days. She was discharged on oral posaconazole 300 mg every 8 hours and ascorbic acid 1000 mg tablet daily to help with absorption and therapeutic drug monitoring (Table 3) with plans to follow-up for the skin graft of the area. The patient remained Rhizopus spp. free at 1-year postdiagnosis.",
"gender": "Female"
},
{
"age": 58,
"case_id": "PMC8668347_02",
"case_text": "Patient 2 is a 58-year-old Caucasian female with past medical history significant for obesity and upper gastrointestinal bleed who underwent an OLT secondary to chronic hepatitis C virus (HCV) infection and alcoholic cirrhosis. MELD-Na at time of transplant was 42. There were no immediate complications that occurred throughout the procedure. Immunosuppression consisting of a corticosteroid taper, tacrolimus, and mycophenolate mofetil (Table 1) was started on day of transplant per institution protocol. Infection prophylaxis consisted of sulfamethoxazole/trimethoprim (POD3), valganciclovir (POD1), and voriconazole (started 5 days prior to transplantation per protocol for high MELD-Na pretransplant patients in intensive care units).\nOn POD10, department of infectious diseases was consulted for persistent leukocytosis and abdominal cramping. Notable findings included an endoscopy exhibiting ulcerations and old blood on POD18 and an indium scan exhibiting increased uptake in the abdomen; however, leukocytosis resolved and the patient was discharged to inpatient rehabilitation. Patient was then readmitted on POD30 for increased abdominal pain, and a computed tomography (CT) scan exhibited free air in her abdomen suspicious for gastric perforation (Figure 2). The patient was emergently taken to the OR for exploratory laparotomy with findings of a large necrotic ulcer in the antrum causing spillage of gastric contents. An OR biopsy sample resulted in Rhizopus spp., and on POD33, the patient was initiated on IV liposomal amphotericin B 3 mg/kg daily, micafungin 150 mg daily, and isavuconazole 372 mg every 8 hours. After 48 hours of therapy, the patient was transitioned from isavuconazole 372 mg every 8 hours to daily. In conjunction with the antifungal regimen, weekly OR debridement and washouts were performed which resulted in persistently positive margins. After two weeks of treatment (POD46), fungal susceptibilities resulted exhibiting azole resistance with amphotericin B minimal inhibitory concentration (MIC) of 4 mcg/mL (Table 4). Due to these results, amphotericin B was increased to 5 mg/kg and oral terbinafine 500 mg every 12 hours was added. Additionally, liposomal amphotericin B 250 mg/500 mL OR irrigation dwells for 30 minutes were performed by a four-quadrant wash with abdomen oscillation with each dwell taking place 5 days a week. After a total of 8 OR amphotericin B irrigation dwell completions and continued systemic combination antifungal therapy, the patient's abdominal wall was closed on POD49. On POD53, isavuconazole was switched to IV posaconazole 300 mg every 12 hours with dose adjustments per therapeutic drug monitoring (Table 3) and nystatin 100,000 unit/mL suspension to be swallowed was added. The closure of the abdomen was complicated by dehiscence and necrotic appearing tissue at the incision site. After debridement, advancement of fasciocutaneous flap, and incisional wound vacuum placement, the amphotericin dose was transitioned to 7.5 mg/kg three times a week in preparation for discharge. Amphotericin B was continued outpatient until POD213 and posaconazole for a year from discharge. The patient remained Rhizopus spp. free at 1-year postdiagnosis.",
"gender": "Female"
},
{
"age": 62,
"case_id": "PMC8668347_03",
"case_text": "The last patient is a 62-year-old Caucasian female with a past medical history of hypertension and coronary artery disease who underwent an OLT secondary to chronic HCV infection and alcoholic cirrhosis. MELD-Na at time of transplant was 51. Overall, the patient tolerated the procedure well. Due to intra-abdominal hemorrhage from ongoing coagulopathy, the patient's abdomen was packed with a planned second operation for completion of the biliary anastomosis on POD2. Immunosuppression with a corticosteroid taper, tacrolimus, and mycophenolate mofetil was started on the day of transplant per institution protocol (Table 1). Infection prophylaxis consisted of sulfamethoxazole/trimethoprim (POD3), valganciclovir (POD1), and voriconazole (started 24 days prior to transplant). Hepatitis B total core antibody resulted positive, and tenofovir disoproxil was initiated POD6.\nOn POD6, empiric antimicrobials were broadened in response to increased leukocytosis. A minibronchoalveolar lavage was performed on POD8, and cultures resulted mould on POD 10. Prophylactic voriconazole was increased to treatment dosing, and inhaled amphotericin B was started. POD12 observation of a lesion on the patient's nose raised suspicion for mucormycosis, and that same day, the cultures resulted in Rhizopus spp. Triple antifungal therapy was initiated (IV liposomal amphotericin B 7.5 mg/kg, posaconazole 300 mg every 12 hours, and micafungin 150 mg daily). MRI findings showed persistent marked pansinusitis with focal left nasal bridge ulceration and extension of inflammation into the postseptal inferomedial extraconal fat of the left orbit with no acute intracranial abnormality identified (Figure 3). In POD13, the patient underwent extensive surgical intervention including a partial rhinectomy, bilateral endoscopic sinus surgery with left medial maxillectomy, resection of intranasal contents, septectomy, inferior and middle turbinate resection, bilateral ethmoidectomy, right maxillary antrostomy, and resection of left lamina papyracea (Figure 4). Multiple returns for debridement occurred until the patient was found to have extensive necrotic tissue involving the skull base. Given involvement of the skull base, further debridement was stopped as this was unresectable. Susceptibilities resulted showing azole resistance and amphotericin B MIC of 0.25 mcg/mL (Table 5). Due to limitations of further surgical debridement and continued positive biopsy samples for 5 months postdiagnosis despite triple antifungal therapy, nasal packing was impregnated with amphotericin B deoxycholate 50 mg (1 mg/mL) and exchanged every 24 hours to accomplish a higher, localized concentration to combat the lack of tissue perfusion. The amphotericin B nasal packing was in addition to the triple antifungal therapy previously described. Three weeks after initiation of amphotericin B nasal packing, an obtained biopsy sample resulted negative for invasive fungal disease. Nasal packing was discontinued 4 days after negative results, and triple antifungal therapy was continued. The patient was discharged to a long-term acute care hospital with continuation of dual antifungal therapy (amphotericin 7.5 mg/kg daily and oral posaconazole 300 mg every 12 hours) with plan for follow-up reconstruction surgery. The patient remained Rhizopus spp. free at 1-year postdiagnosis.",
"gender": "Female"
}
] |
PMC8668347
|
[
{
"age": 80,
"case_id": "PMC6545747_01",
"case_text": "We report on an 80-year-old Caucasian woman on warfarin for atrial fibrillation who sustained a spontaneous, atraumatic, spinal subdural hematoma in the thoracic region. The patient awoke in the morning to use the bathroom. Approximately 1 hr after returning to her bed, she was unable to move bilateral lower extremities and was incontinent. She reported no back pain, headache, nausea, vomiting, or any constitutional symptoms. She was transferred to an outside hospital and underwent an MRI, which as read by an attending senior radiologist who suggested an epidural hematoma concentrated around the T4-T9 levels (Figures 1(a) and 1(b)). She was reversed for an INR of 3.6 and then transferred to Albany Medical Center for further management. On examination, the patient was comfortable without any pain. She had a loss of bowel and bladder function and had no sensory or motor function below T5. The patient was seen by a fellowship-trained orthopaedic spine surgeon, and her spinal cord injury was classified as a T5 ASIA impairment scale A.\nShe was taken emergently to the OR approximately 30 hours after the initial onset of symptoms. After a T3-T11 laminectomy, the spinal cord was fully visible, but no epidural hematoma was noted. However, discoloration and bulging of the thecal sac were noted, and the dura was incised longitudinally from T2 to T10 revealing an expansive jelly-like blood clot. The hematoma was evacuated, and the dura closed with a 4'0-NUROLON.\nPostoperatively, the patient had regained 1/2 sensory function in the bilateral lower extremities. At the 2-week mark, the patient was still incontinent, showed 2/2 sensory and 2/5 motor functions in select muscle groups in her bilateral lower extremities. The patient's spinal cord injury was classified as an L2 ASIA impairment scale C. An MRI demonstrated a multilevel decompressive thoracolumbar laminectomy (Figures 2(a) and 2(b)), and the patient was discharged to a rehabilitation facility. At the two-month follow-up period, the patient had transitioned to a long-term nursing care facility and her neurological status remained unchanged.",
"gender": "Female"
}
] |
PMC6545747
|
[
{
"age": 37,
"case_id": "PMC4508704_01",
"case_text": "The patient was a 37-year-old woman with a history of intestinal perforation, but no history of cranial or orbital trauma recently.\nWhile undergoing genetic diagnosis of vEDS in the outpatient clinic of another hospital, the patient experienced a sudden onset of a vascular murmur in the vicinity of the left ear, tinnitus, and a headache. The tinnitus disappeared when the left carotid artery was compressed, and a bruit was heard over the left eyeball. No clear abnormal findings were detected by computed tomography (CT) of the head, but magnetic resonance imaging (MRI) and magnetic resonance angiography (MRA) of the head revealed a CCF, and the patient was referred to our hospital and examined.\nThe patient's consciousness level was clear on arrival at our hospital. Ophthalmological examination indicated corrected visual acuity of 1.0/1.0. Bilateral Amsler grid testing indicated no abnormalities at any point in either visual field. The left eye was markedly red with dilated irregular conjunctival and subconjunctival vessels. Hess chart testing indicated abducens nerve paralysis. Based on the patient's family history, past medical history, and the imaging findings, there was a strong possibility of a CCF complicating EDS, and because of the possibility that angiography would cause vascular injury, the preoperative evaluation was performed by 3D CTA.\nElder brother: Dissection of the thoracic aorta\nFather's family: Rupture of the abdominal aorta, sudden death\nAlthough the symptoms temporarily improved in response to intermittent manual compression of the carotid artery, they became more severe again (Fig. 1). Because of the development of higher function disorders, including aphasia and agnosia, associated with marked cortical reflux within the cranium, endovascular treatment (TVE) was performed under general anesthesia. A direct CCF from the vicinity of the left internal carotid artery (ICA) at the C3-4 level was confirmed by digital subtraction angiography (DSA). Marked retrograde flow into the intracranial veins was observed, and treatment was performed as described below (Fig. 2).",
"gender": "Female"
}
] |
PMC4508704
|
[
{
"age": 31,
"case_id": "PMC3722985_01",
"case_text": "A 31-year-old male presented to the emergency room complaining of progressive dyspnea and productive cough over the course of 4 months. He also noted decreased appetite with a 50-pound weight loss over the past 5 months. He had no significant past medical or surgical history and was not taking any medications. His family history was unremarkable. He quit smoking tobacco two months ago due to worsening respiratory status; he rarely used alcohol and never used recreational drugs. He was unmarried and in a long-term heterosexual relationship and denied multiple sexual partners. He was currently working in an automobile parts factory as a janitor. After high school he had enlisted in the army and served for four years; at that time he was stationed in Hawaii. While in Hawaii he visited a single prostitute on several occasions.\nInitial vital signs revealed temperature was 99.9 F, blood pressure 128/83 mmHg, pulse 134 beats per minute, and respiratory rate 22 breaths/minute; oxygen saturation was 92% on room air. He was in moderate respiratory distress, yet was awake, alert, and cooperative. Extraocular muscles were intact; there was no nystagmus or scleral icterus. Pupils were equal, round, and reactive to light. He had thrush under his tongue and on the palate. There was no palpable lymphadenopathy. Heart rate was regular with no murmurs, rubs, or gallops by auscultation. There were no palpable thrills. He had equal chest rise bilaterally. Breath sounds were diminished throughout, with rales and dullness to percussion in the lower lung fields bilaterally. Sensory and motor examination was grossly intact.\nLaboratory data revealed white blood count 13,900/mcL, hemoglobin 7.2 g/dL, platelets 370,000/mcL, sodium 131 mmol/L potassium 5.8 mmol/L, chloride 99 mmol/L, carbon dioxide 17 mmol/L, blood urea nitrogen 155 mg/dL, and serum creatinine 8.9 mg/dL. Arterial blood gases showed a pH of 7.39, pCO2 32.2 mmHg, bicarbonate 19.1 mmol/L, and pO2 74.5 mmHg on 3 L nasal cannula. Chest X-ray showed diffuse bilateral reticulonodular opacities (Figure 1). He was found to be HIV positive with CD4 count of <5 cells/cc and viral load of 1,180,000 copies. Bronchoalveolar lavage was preformed; Grocott's methenamine silver stain of the washings demonstrated Pneumocystis jiroveci (Figure 2). He received antibiotics and steroids with gradual improvement.\nOn hospital day 14, he became confused and acutely developed nystagmus with both a horizontal and prominent vertical component. He was also found to have ataxia with finger to nose testing and difficulty sitting up without support. Considering his immunosuppressed state, infectious and neoplastic etiologies were the primary diagnostic considerations. Lumbar puncture revealed clear CSF, normal opening pressure, and normal cell counts. Polymerase chain reactions for Epstein-Barr virus, Herpes simplex virus, cytomegalovirus, and John Cunningham (JC) virus were negative. Nontreponemal serological screening for syphilis (VDRL), toxoplasmosis antibody, and Cryptococcus antigen titers were negative. CT of the head did not show any intracranial mass, hemorrhage, or other acute findings. MRI of the brain revealed a slight increase in T2 signal within the medial aspect of thalamus bilaterally (Figure 3). After excluding infection and neoplasm, the clinical diagnosis of Wernicke's encephalopathy was made. Intravenous thiamine was administered resulting in resolution of symptoms, which confirmed the diagnosis.",
"gender": "Male"
}
] |
PMC3722985
|
[
{
"age": 48,
"case_id": "PMC8574116_01",
"case_text": "In June 2017, a nonsmoker 48-year-old woman with a history of persistent bronchial asthma and chronic pansinusitis was diagnosed with respiratory failure in the course of hypereosinophilic syndrome. Computed tomography (CT) of the chest showed massive interstitial infiltrates and laboratory tests revealed eosinophilia (8286 cells/microl). Therapy with systemic and inhaled glucocorticoids and inhaled bronchodilators was started, with moderate improvement. Further workup displayed elevated level of eosinophils (8%) in bronchoalveolar lavage (BAL) fluid and negative antinuclear and antineutrophil cytoplasmic antibodies. Previous attempts to taper oral GS led to flare of the disease; therefore the patient had add-on therapy with the humanized anti-IL-5 monoclonal antibody mepolizumab for several months (last dose was given in May 2019). However, instead of the applied treatment and normal level of peripheral eosinophils (< 500 cells/microl) she presented with fluctuating lower respiratory tract symptoms (wheezing, rhonchi, cough, dyspnea), recurrent exacerbations of pansinusitis with persisting hearing impairment (Fig. 1). In July 2019 functional endoscopic sinus surgery was performed, revealing eosinophilic (approx. 10% of the cells) chronic infiltrates of the mucosal stroma.\nIn December 2019 the patient was admitted to the Department of Rheumatology and Immunology due to exertional dyspnea and cough. Physical examination revealed diffuse expiratory wheezing and prolonged expiration. Initial workup revealed blood eosinophilia (2840 cells/microl) and an elevated level of immunoglobulin E (134 IU/ml, reference range < 100); with normal levels of vitamin B12, tryptase and immunoglobulin G. There were no parasitic eggs or larvae in a stool sample. The patient was negative for FIP1L1-PDGFRA, JAK2 and ETV6-PDGFRB mutations. A bone marrow aspirate revealed an elevated level of eosinophils (< 10% of the cells); no other pathologies were identified. Cytogenetic analysis showed a normal female karyotype. Ground glass opacities on high-resolution CT were described (Fig. 2). Bacterial and fungal cultures of BAL fluid did not yield any organisms. Increased eosinophils in BAL fluid (10%) confirmed HES flare. Therapy with intravenous methylprednisolone (40 mg daily for 5 days, subsequently tapered), combined with inhaled GC and bronchodilators was started. Reduction of methylprednisolone dose less than 32 mg daily led to HES flare.",
"gender": "Female"
}
] |
PMC8574116
|
[
{
"age": 36,
"case_id": "PMC9869191_01",
"case_text": "The patient was a 36-year-old female. The left side chest pain occurred more than 1 month ago and continued to deteriorate for 10 days. She had repeated pulmonary infection, accompanied by cough and expectoration. Her maximum temperature was 38.5 C, without chest tightness and dyspnea. Physical examination: the chest was barrel shaped, and no definite abnormality was found in chest auscultation and palpation. Cardiac examination was normal. The laboratory test of human immunodeficiency virus (HIV) was negative, and there was no contact history of tuberculosis. The patient's abdominal CT plain scan showed no obvious abnormality.\nThe lung window in axial and sagittal position of multi-detector spiral CT showed that the bilateral basal lung isthmus was connected, extending behind the pericardium and crossing the midline for fusion. The left lower lung basal segment had sparse lung markings, with increased transparency, and patchy shadows could be seen near the spine at the bottom of both lungs. There was an obvious pleural interface between the isthmus and the left lung (arrow) (Figures 1 and 2). Transparent imaging (Figure 3) showed the isthmus lung tissue among the lungs (arrow). The three-dimensional volume-rendered imaging of the bronchus (Figure 4) showed that the bronchial branches of the lower lobe of the left lung were thinner than those of the right side. Cystic changes could be seen at the beginning of the lower lobe of the left lung. The outer and posterior basal segments of the lower lobe of the left lung fused at the beginning, and the distal branches were sparse. Thoracic CT angiography scanning (Figures 5 and 6): consolidation shadow could be seen in the basal segment of the lower lobe of both lungs, with the left lung as the focus, and multiple calcified nodules could be seen in it. The blood supply arteries of bilateral lesions directly originated from the adjacent trunk of thoracic aorta (arrows).",
"gender": "Female"
}
] |
PMC9869191
|
[
{
"age": 55,
"case_id": "PMC2750244_01",
"case_text": "The case reports of patients with brain metastases secondary to NSCLC treated with gefitinib as part of the compassionate-use programme have recently been reported as published case studies, at the World Conference on Lung Cancer 2003, at the American Society of Clinical Oncology 2003 conference and at the 'Iressa' Clinical Experience (ICE) meeting (Awada, ICE abs; Cappuzzo [a & b], ICE abs; Dieriks, ICE abs; Stein, ICE abs; de la Cruz [a & b], ICE abs; Maione, ICE abs; Martinez, ICE abs; Diaz-Canton, ICE abs; van der Kamp, ICE abs; van Zandwijk [b], ICE abs; Petruzelka [a], ICE abs; Azemar, ICE abs; Roggero, ICE abs; Kowalski, ICE abs; Martin-Algarra, ICE abs; Pavlakis, ICE abs). (See appendix for ICE abstracts). Together, these case reports suggest that gefitinib has activity in NSCLC brain metastases. The results of published case series are shown in Table 1 .\nMost notable are the cases with a complete remission of brain metastases. In the largest case series that included 27 patients who had asymptomatic or symptomatic brain metastases, two of 20 evaluable patients had a response in the brain, with complete remission in one patient. In another case series described in two separate publications by Cappuzzo et al, eight patients with NSCLC and brain metastases were treated with gefitinib (; [a & b] ICE abs). One patient had a complete response and seven had partial responses in the brain, all within 3 months of treatment. The complete response in the brain was observed 6 weeks after treatment with gefitinib started in a patient who had completed whole-brain radiotherapy 3 months prior to the beginning of gefitinib (Figure 1). All eight patients experienced improvements in neurological and systemic symptoms.\n described the case report of a patient who had achieved a complete response in the brain following treatment with gefitinib. This particular patient was diagnosed in July 1999 with stage IV adenocarcinoma of the left lung. In March 2001, after treatment with three different chemotherapy regimens, asymptomatic brain metastases were detected and subsequently treated with whole-brain radiotherapy. However, by October 2001 the patient's condition had deteriorated, with progressive brain metastases, and the patient was readmitted to hospital. Treatment with gefitinib started in November 2001 after which computed tomography scans showed that brain metastases had disappeared and that there was a marked regression of the lung tumour. The patient was then discharged in December 2001 and was able to resume full-time work for nearly 8 months. Two other published case reports also describe patients whose brain metastases responded to treatment. In all three of these cases, patients had worsening neurological symptoms and deteriorating performance status before treatment with gefitinib. Following treatment, a significant clinical improvement was seen in all three patients: brain metastases disappeared in the patient already described and the sizes of the other two patients' lesions decreased. Quality of life was improved in all three patients.\nOne patient described at the ICE meeting showed good tolerance of concurrent gefitinib and radiotherapy (van Zandwijk [b], ICE abs, personal communication). In this case study, a 55-year-old male exsmoker with stage IV NSCLC and multiple pulmonary (lymphangitic) metastases developed multiple brain metastases (approximately 20 small lesions) after receiving treatment with gefitinib for >1 year (Figure 2). Radiotherapy to the brain (10 x 3 Gy) and continued treatment with gefitinib resulted in disease stabilisation and symptom improvement and the patient was able to return to work. Delayed imaging 9 months later showed almost complete resolution of the brain metastases (Figure 3). Thus, although gefitinib did not prevent the development of brain metastases, concurrent treatment with radiotherapy and gefitinib resulted in a durable clinical response.\nIn total, 25 case reports of gefitinib use in patients with brain metastases and NSCLC were described at the ICE meeting (including the eight patients described by Cappuzzo et al) (Awada, ICE abs; Cappuzzo [a & b], ICE abs; Dieriks, ICE abs; Stein, ICE abs; de la Cruz [a & b], ICE abs; Maione, ICE abs; Martinez, ICE abs; Diaz-Canton, ICE abs; van der Kamp, ICE abs; van Zandwijk [b], ICE abs; Petruzelka [a], ICE abs; Azemar, ICE abs; Roggero, ICE abs; Kowalski, ICE abs; Martin-Algarra, ICE abs; Pavlakis, ICE abs). Of these, three patients had a complete response, 10 a partial response, eight had stable disease and four patients had progression of their brain metastases. In all of these case reports, treatment with gefitinib appears to have been well tolerated. Any reported adverse events are consistent with the adverse-event profile of gefitinib established in Phase II trials in patients with advanced NSCLC. There was also no unexpected or cumulative toxicity described for the patient who received concurrent gefitinib and radiotherapy (van Zandwijk [b], ICE abs).",
"gender": "Male"
}
] |
PMC2750244
|
[
{
"age": 41,
"case_id": "PMC3108731_01",
"case_text": "A 41-year-old male was admitted to the hospital with symptoms of diarrhea, fever, dyspnea and right pleural effusion. The illness began in the latter part of August 2008, initially presenting with diarrhea and fever. He was an MSM and the serology for HIV antibody was positive. He had no history of traveling abroad, alcoholism, any medication or intravenous drug use. His vital signs on admission were; conscious, blood pressure 95/60 mmHg, pulse late 146 beats/min, respiration, 45 breaths/min, saturation O2 (room air), 88% and body temperature 39 C. The notable findings of a physical examination included emaciation (BMI 16.1), oral candidasis and decreased breath sounds on the right side of his chest. A chest radiograph and computed tomography (CT) of the chest showed a large amount of right pleural effusion (Figure 1). A CT scan of the abdomen detected large liver abscess (Figure 2). The laboratory data included a leukocyte count of 10,320/muL with 89% neutrophils, 8% lymphocytes, 3% monocytes, hemoglobin 8.8 g/dL, C-reactive protein 23.6 mg/dL, aspirate aminotransferase 95 U/L, alanine aminotransferase 74 U/L, alkaline phosphatase 478 U/L, gamma-glutamyl transpeptidase 134 U/L, albumin 2.1 g/dL, total cholesterol 57 mg/dL, blood urea nitrogen 18.4 mg/dL, creatine 0.57 mg/dL and hyponatremia (123 mEq/L). The findings of human immunodeficiency virus type 1 antibody tests were positive for enzyme immunoassays (EIA) and also based on the Western blot method. Thoracentesis revealed milk chocolate or cafe au lait colored pleural fluid (Figure 3). In an examination of the pleural fluid, cytology, bacterial culture, smear and polymerase chain reaction to detect Mycobacterium tuberculosis DNA were negative, the adenosine deaminase activity was 240 IU/L. The pleural fluid showed a cell count of 40125/mL (74.3% neutrocytes, 25.7% monocytes). Other examinations of the laboratory findings detected cysts of Entamoeba histolytica in the patient's stool. The CD4 lymphocyte count in the peripheral blood was 179/muL (repeated counts for CD4 lymphocytes ranged from 286 to 359/muL) and the amount of HIV-RNA was 3700 copies/muL (repeated counts for HIV-RNA ranged from 43,000 to 90,000 copies/mL). Although E. histolytica was not identified from the pleural fluid, antibodies (fluorescence antibody technique) against E. histolytica were demonstrated in the serum (200x). The patient was thus diagnosed to have amoebic colitis, amoebic liver abscess and amoebic empyema complicated with an HIV infection. The right side pleural effusion was drained using a chest tube and he was administered metronidazole (2250 mg/day) orally for 28 days in total. A large volume of pus was drained from the right thoracic space. A small volume remained. The right lung was re-expanded. His fever, dyspnea and general condition significantly improved thereafter. The patient was therefore administered trimethoprim-sulfamethoxazole to prevent pneumocystis pneumonia and itraconazole to prevent fungal infections. However, he developed agranulocytosis 22 days after administration. The absolute neutrophil count was 0/muL. Agranulocytosis in this case was therefore considered to have been caused by the administration of trimethoprim-sulfamethoxazole. After the discontinuation of trimethoprim-sulfamethoxazole, the recombinant human granulocyte colony-stimulating factor (G-CSF) drug filgrastim was administered daily at a dose of 200 mug/m2 intravenously. Following 4 days of treatment with G-CSF, the patient's absolute neutrophil count was above 9/muL, while after 7 days of treatment it was 2990/muL (white blood cell count 4600/muL, neutrophils 65%). The patient did not demonstrate any further infection during the clinical course. He was discharged 45 days after admission.",
"gender": "Male"
}
] |
PMC3108731
|
[
{
"age": 74,
"case_id": "PMC6398058_01",
"case_text": "A 74-year-old Japanese woman was referred to our hospital with dyspnea, a palpable mass in the right breast, and an enlarged lymph node in the right axilla that had worsened during the two months before admission. History taking revealed that she had moved from her birthplace in Kumamoto prefecture of southwestern Japan to Nagano prefecture after marriage. She had no other remarkable history of disease, transfusion, medication, or drug abuse.\nOn presentation, patient's body temperature was 37.2 C with a heart rate of 127 bpm and peripheral artery oxygen saturation of 92% in ambient air. Her vesicular sounds decreased without crackling on chest auscultation. Physical examination revealed a distended abdomen without hepatosplenomegaly. Systemic lymphadenopathy and pretibial edema pitting were noted.\nBlood examination (Table 1) disclosed a lymphocyte count of 680/muL and less than 1% morphological flower cells. Peripheral laboratory tests were as follows: aspartate aminotransferase, 37 U/L; alanine aminotransferase, 6 U/L; lactate dehydrogenase (LDH), 622 U/L; total bilirubin, 1.5 mg/dL; soluble IL-2 receptor, 27,500 U/mL (normal range: 135-421 U/mL); and calcium, 12.9 mg/dL. HTLV-1 antibody was positive. A contrast-enhanced computed tomography (CT) scan of the chest and the abdomen revealed bilateral pleural effusion and ascites with lymphadenopathy (Figure 1). Bilateral pleural effusion samples appeared chylous (Figure 2) with high triglyceride concentrations (Table 2) and class III cytology. A biopsy obtained from the right inguinal lymph node showed diffuse infiltration of moderate- to large-sized lymphoid cells with a pleomorphic nucleus and prominent nucleoli (Figure 3) that were CD3+, CD4+, CD5+, CD8-, CD20-, and CD21- on immunohistochemistry (Figure 4). Two monoclonal bands for HTLV-1 provirus DNA were observed in lymph node specimens by Southern blot hybridization analysis (Figure 5). Tumor cell infiltration into the bone marrow was negative in an aspiration biopsy. Based on these findings, the patient was diagnosed as having lymphomatous ATL.\nThe clinical course of the patient is summarized in Figure 6. High-dose methylprednisolone therapy was deemed ineffective for her chylothorax since continuous pleural effusion drainage of 500 to 1,000 mL/day was necessary. The patient was soon shifted to a reduced-dose LSG15 chemotherapy regimen with prophylactic hydration, rasburicase, and bisphosphonate. After the first course of modified LSG15 (consisting of vincristine, cyclophosphamide, doxorubicin, prednisolone, vindesine, etoposide, ranimustine, and carboplatin), she required pleural effusion drainage of less than 200 mL/day. Her systemic lymphadenopathy and pleural effusion disappeared over the two subsequent LSG15 treatment courses as confirmed by CT and normalization of LDH and calcium levels.",
"gender": "Female"
}
] |
PMC6398058
|
[
{
"age": 21,
"case_id": "PMC6537081_01",
"case_text": "A 21-year-old woman was admitted for gradually progressive colicky pain over the hypogastrium for 6 days, associated with vomiting and constipation. She was able to pass flatus, but with cessation of bowel movements. She was diagnosed to have ulcerative colitis (UC) in the past for which total colectomy was performed, followed by a manual side-to-end ileorectal anastomosis. She had previous episodes of partial SBO that resolved with antispasmodics and had an untreated menometrorrhagia for the past year.\nShe was hemodynamically stable and her abdomen was not distended. Multiple scars from previous abdominal surgery were visible. There was tenderness in all four quadrants, but no signs of peritonism. No anterior wall defects were palpated. Bowel sounds were hyperactive. Parents rejected vaginal and rectal examination.\nPlain abdominal X-ray showed multiple radiopaque shadows within the small bowel, no air-fluid levels or dilated loops. We further proceeded with plain computed tomography scan to reach to a final diagnosis of multiple enterolithiasis in the small bowel (Figure 1).\nLaparotomy was done after 48 h of poor response to conservative management. Abdominal exploration revealed multiple dense and cohesive adhesions predominantly in the distal small bowel. An anastomotic ileorectal stricture was found, along with multiple stones. The size of the enteroliths averaging 1 cm did not allow manual \"milking\" of the stones into the rectum (Figure 2). In the pelvic cavity, a cystic mass in the left ovary was found. No communicating fistula was identified between gallbladder and duodenum. Next, left salpingo-oophorectomy was performed, stricture was excised, stones were removed, and intestinal continuity restored with manual end-to-end ileorectal anastomosis at a distance of 12 cm from the anal verge. This was followed by dilation and curettage (D&C).\nIn the post-operative period, marked malnutrition was detected with a decrease in serum albumin; for this reason, total parenteral nutrition (TPN) was initiated; 5 days after ex-lap, she presented abundant discharge of succus through the wound. Urgent relaparotomy was performed. Anastomotic leak was found and was managed by dismantling of the anastomosis with closure of the rectal stump and end-ileostomy. Analysis of the biochemical composition of the intestinal stones showed the presence of calcium dihydrate oxalate (85%), calcium monohydrate oxalate (10%), and carbonate apatite (5%). The patient made good recovery and continued well upon discharge.",
"gender": "Female"
}
] |
PMC6537081
|
[
{
"age": 80,
"case_id": "PMC9834804_01",
"case_text": "Patient information: an 80-year-old woman was admitted for chronic right flank pain in the last six months, with one episode of hematuria. The patient mentioned a history of weight loss, decreased appetite, and generalized weakness. There was no significant medical or family history or any relevant past interventions.\nClinical findings: the physical examination was unremarkable. The temperature was 37.3 C, blood pressure 124/84 mmHg, and pulse rate regular at 86 beats/min. In palpation, we revealed mild tenderness in the right flank but without any palpable mass.\nDiagnostic assessment: abdominal computer tomography (CT) scan revealed a heterogeneous right renal mass measuring 86 x76x 68 mm and arising from the upper and middle pole (Figure 1), with a lymph node of 8 mm diameter detected in the renal hilum as well as a multi lithiasis gallbladder (Figure 2). Laboratory tests did not detect any alterations, and gave the following results: white blood cell count was 79.000/mm3, red blood cell count 5,3.106/mm3, hemoglobin 13.0 g/dL, hematocrit 39.1%, platelets 19.6 x 104/microL, total bilirubin 0.6 mg/dL, direct bilirubin 0.2 mg/dL, aspartate transaminase 25 IU/L, alanine transaminase 19 IU/L, albumin 4.25 g/ dL, lactate dehydrogenase 240 IU/L, beta-glutamyltransferase 27 IU/L, alkaline phosphatase 201 IU/L, amylase 129 IU/L, blood urea nitrogen 11.6 mg/dL, creatinine 8 mg/L, C-reactive protein 3 mg/L, urinalysis pH 7.0, no uric protein, no urinary sugar, no ketone body, no uric blood, no bilirubin, and no white blood cell, and no bacteriuria. A chest CT was done and did not show any metastasis. The presumptive diagnosis was a renal tumor classified T2a-N2-M0, associated with a multi lithiasis gallbladder.\nTherapeutic interventions: a right open radical nephrectomy via subcostal incision with lymph node dissection and cholecystectomy was performed. The surgical exploration showed a right renal large superior polar exophytic mass with two palpable hilar lymphadenopathies. The wall of the gallbladder appeared normal except for its lithiasis content. The surgical intervention was performed successfully without adhesion or local invasion.\nFollow-up and outcome of interventions: the postoperative course was without complications, and the patient was uneventfully discharged on the fifth postoperative day. Pathological assessment of the specimen showed the tumor was well-circumscribed, measuring 9 x 7 x 5 cm and subtotally effacing the kidney. At sectioning, it was tan-yellow with large necrotic areas. The gallbladder was thin-walled with a 0.4 x 0.3 submucosal nodule. Microscopically the renal tumor consisted of a tubulopapillar lined by pseudostratified layers of cells with abundant eosinophilic cytoplasm and high nucleolar grade. It was a clear cell RCC with the pathologic stage of pT2a, Fuhrman 3. The polypoid lesion of the gallbladder was identical to those of the renal tumor population, made up of large, plant-like cells with clear cytoplasm, adopting an acinar or solid architecture within a stroma rich in small vessels (Figure 3A, Figure 3B). Immunohistochemistry was positive for cytokeratin CK7, AMACR (a-Methylacyl Coenzyme A Racemase), cytokeratin (AE1/AE3), and vimentin (Figure 3C, Figure 3D). The morphologic and phenotypic profiles were consistent with synchronous metastasis from renal carcinoma. Additionally, the histopathological study found several lymph nodes to be invaded. So, the final stage of the tumor was pT2a-N2-M1. The follow-up was carried out by CT scan at six months, and then after one year, the patient did not present a recurrence, and the renal function remained normal.\nPatient perspective: the patient was informed about the all procedure, complication and outcome, and she was agreeing about it. The patient was pleased with the care she received throughout therapy.\nInformed consent: written informed consent was obtained from the patient for participation in our study.",
"gender": "Female"
}
] |
PMC9834804
|
[
{
"age": 61,
"case_id": "PMC9941022_01",
"case_text": "The patient is a 61-year-old Hispanic woman with a history of left breast cancer, diabetes mellitus type 2, and hypertension. The patient's medication history before her diagnosis of breast cancer included metformin 500mg twice a day (BID) orally (PO), and Lisinopril 10mg PO daily. She initially presented with left breast pain in 2018 and went to the emergency department. A mammogram was performed revealing a 1.2 cm hypoechoic cystic lesion in the left breast in the periareolar region. A biopsy was performed and determined to be a malignant invasive ductal carcinoma grade 3 out of 3 estrogen receptor (ER)/progesterone receptor (PR) negative HER-2 positive. The patient underwent a left modified radical mastectomy with sentinel lymph node dissection. Pathology showed a 1.8 cm grade 3 invasive carcinoma, pT1c, N0, M0, ER negative, PR negative, and HER2 positive. The patient underwent six cycles of docetaxel, carboplatin, and trastuzumab. She also received a year-long course of trastuzumab. Afterward, the patient started on neratinib 200mg daily.\nThe patient presented to the ophthalmology consultation for blurry vision six months after the initiation of neratinib. Ophthalmological examination revealed a best corrected visual acuity (BCVA) of 20/300 (PH: 20/200) right eye and 20/25 in the left eye. Intraocular pressure of 15 mmHg in both eyes. The anterior segment exam was unremarkable with posterior chamber intra-ocular lenses. The posterior segment presented with an optic nerve that was pink and sharp with normal cup-to-disc ratios in both eyes. The macula revealed pigmentary changes; with some areas of hyperpigmentation in the macula in the right eye. The hyperpigmentation in the left eye presented a more diffuse appearance with a lacy pattern (Figure 1 A). Of note, the scarring and pigmentary clumping extended beyond the arcades in a reticular and lacy fashion in the left eye (Figure 1 B).\nThe left eye presented with more profound changes in comparison to the fellow eye. Optical coherence tomography revealed full-thickness scarring mostly of the outer retina in the right eye while presenting internal limiting membrane (ILM) draping and cavitations (Figure 2).\nFundus autofluorescence revealed hypoautofluorescense in areas of pigmentary clumping that extended beyond the arcades. The right eye presented similar features from the nasal to the optic disc as well (Figure 3).\nFluorescein angiography revealed early staining and late leakage beyond the area of foveal scarring in the right eye (Figure 4). There was leakage also present from a smaller lesion inferiorly on the macula in the left eye (Figure 4 D).",
"gender": "Female"
}
] |
PMC9941022
|
[
{
"age": 42,
"case_id": "PMC3981348_01",
"case_text": "In March 2009, a 42-year-old man patient presented with progressively increasing, occasionally painful lump in the left upper and central abdomen for past 2 months. On physical examination there was a hard, partially mobile, mildly tender 10x10 cm lump with irregular surface occupying the left lumber, left central abdomen and part of left hypochondrium. Contrast-enhanced computed tomography (CECT) abdomen revealed well-defined capsulated heterogeneous soft tissue density lesion with evidence of calcification and patchy contrast enhancement, superior to left kidney (size 164x111x174 mm); no metastasis or lymphadenopathy was there. Computed tomography (CT) - guided true cut biopsy revealed adrenocortical carcinoma. Biochemical examination was consistent with nonfunctioning tumor. In April 2009 the tumor was resected encapsulated along with left kidney (i.e. no rupture of capsule or spillage of tumor occurred). Histological analysis of specimen showed adrenocortical carcinoma with focal areas of capsular invasion and left kidney was unremarkable. No adjuvant chemotherapy was given. The patient was discharged from hospital after eight days. Patient was followed up in out patient's department for 6 months but then patient stopped coming to outpatient department for follow up.\nIn October 2010, patient presented with swelling in anterior abdominal wall rapidly increasing for last 2 months (Figure 1). Patient was not having any symptoms apart from mild pain locally. On physical examination, there was a single hard, well defined, immobile, mildly tender 80x70 mm lump with irregular and bleeding surface occupying umbilical region. CECT thorax and abdomen was done which revealed a soft tissue mass lesion in the anterior abdominal wall at umbilical level involving the anterior abdominal wall muscle (B/L rectus abdominis), subcutaneous tissues and overlying skin with small calcific foci within, measuring 64.7x66x54 mm (Figure 2). There was no extension beyond the muscle. Cytological features were consistent with metastatic adrenocortical carcinoma (Figure 3). There was no evidence of metastasis elsewhere.\nPatient was diagnosed as metastatic adrenocortical carcinoma so resection and abdominal wall reconstruction was planned but patient refused for any kind of treatment and opted for some indigenous medicines for his disease. After 2 months, he was brought to casualty department in state of shock with profuse bleeding from tumor site. Despite extensive resuscitation, patient couldn't be salvaged.",
"gender": "Male"
}
] |
PMC3981348
|
[
{
"age": 60,
"case_id": "PMC5259936_01",
"case_text": "A 60-year-old woman had a frontal mass which she incidentally noticed 1 year back. The mass had been painless and was slowly, but gradually, increasing in size, and hence the delay in presentation. On presentation, her general physical, systemic, and neurological examination were within normal limits. Local examination revealed a 4 x 3.5 x 3 cm mass in the right frontal region. It was pulsatile in nature, firm in consistency, and was fixed to the skull. The skin over the swelling was stretched but was otherwise normal. Routine blood tests and thyroid function tests were normal. Skull X-ray showed a large frontal lesion with some focal calcification in the soft component of the lesion. Fine needle aspiration cytology (FNAC) from the skull swelling was obtained and stained with Leishman stain. Smears showed cells arranged in a repeated microfollicular pattern having monotonous enlarged, hyperchromatic nuclei, reminiscent of follicular neoplasm of thyroid and were suspected to be metastasis from FTC [Figure 1b]. Immunocytochemistry was done and the cells showed positive staining for thyroglobulin [Figure 1c] and cytokeratin.\nThe patient had no history related to thyroid disease and was clinically euthyroid. Her subsequent workup included thyroid ultrasonography which revealed an occult primary in form of 1 x 1 cm well-defined hyperechoic lesion in the left lobe, with flow on color Doppler, which was suggestive of malignancy. Contrast enhanced computed tomography (CT) demonstrated a 3 x 3 cm soft tissue lesion in scalp in frontal region with destruction of underlying bone [Figure 1a]. Hence, the patient diagnosis was skull metastasis with occult FTC. She was advised further investigation and treatment which she refused, and has since been lost to follow-up.",
"gender": "Female"
}
] |
PMC5259936
|
[
{
"age": null,
"case_id": "PMC3273437_01",
"case_text": "We will carry out an economic evaluation designed for at least five Dutch employability interventions. Those undertaking the evaluation are not connected with the organisations or individuals who have developed, or are in the process of developing the employability interventions so no competing interests arise. Within the CASE-study each existing or innovative intervention will be compared with usual care for work-disabled employees or those at risk of work disability due to medical restrictions. At the start of the CASE-study, nine programmes were interested in participating in the project. Unfortunately four programmes could not collaborate because they were unable to provide the minimum required number of participants eligible for the study, or could not provide a comparable control group. The remaining five employability interventions have the ability to comply to the minimal requirements and focus on primary care, secondary or specialist care, and/or on the interaction between the employer and employee. Two existing employability interventions (called 'Best Practices') and three newly developed employability interventions are included in the study. The employability intervention focussing on primary care aims to acknowledge the importance of employability in general practice. This intervention is under development at the University of Nijmegen (UMC St Radboud). The employability intervention in specialist care is being developed jointly by the VU University Medical Centre Amsterdam (VUMC) and the Institute for Health and Care Research (EMGO+) and focuses on employability among patients who suffer from rheumatoid arthritis. The third newly developed intervention aims at improving the interaction between the employee and his/her employer by appointing an independent mediator. The intervention is being developed by a separate team at Maastricht University. One of the 'Best Practice' interventions, developed by Health & Motion Nederland, offers patients with physical health complaints the ability to implement a range of exercises learned at the physiotherapeutic setting in their working environment by means of a workplace-intervention. The fifth and final intervention is developed by Second Care/Care for Companies (Best Practice) and aims at achieving sustainable employability among patients with physical and/or psychological health complaints using a multidisciplinary approach. An overview of these interventions is provided in Figure 1.\nIt is beyond the scope of this design article to describe the precise content of each employability intervention in detail. This will be done when the results of the economic evaluation per employability intervention are published. What is of importance in this paper is that the employability interventions use an innovative, systematic approach in order to support work participation in employees with health complaints. These are innovative because both the healthcare system and the private/work life of the employees are considered in the intervention. The features of the interventions differ according to the patient population, but the aim remains the same: to reduce sickness absence and increase the potential of achieving sustainable employability.\nThe protocol for this study has been approved by the Ethics Committee of Psychology (ECP107) at Maastricht University, the Netherlands.",
"gender": "Unknown"
}
] |
PMC3273437
|
[
{
"age": 4,
"case_id": "PMC8712131_01",
"case_text": "A total of 42 eyes of 41 patients were identified. Of these, 37 eyes (20 right eyes and 17 left eyes) from 36 patients had a minimum of 1 month of follow-up and were included in the statistical analysis. 44.4% (n = 16) of patients were females. The mean age at the time of surgery was 72.0 +- 12.4 years old (range 31-92 years old). The mean follow-up period was 548.9 days (range 39-1564 days).\nRelevant past ophthalmological history included closed-globe trauma in 12 eyes (32.4%), pseudoexfoliation (PEX) syndrome in 8 eyes (21.6%), glaucoma in 7 eyes (18.9%), previous PPV for retinal detachment repair in 5 eyes (13.5%), pathological myopia in 4 eyes (10.8%), open-globe trauma in 3 eyes (8.1%), exudative age-related macular degeneration in 2 eyes (5.4%), diabetic retinopathy without macular edema in 2 eyes (5.4%), dry age-related macular degeneration, previous penetrating keratoplasty, endophthalmitis, diabetic retinopathy with macular edema, retinal venous occlusion, toxic optic neuropathy, and Vogt-Koyanagi-Harada syndrome in 1 eye each (2.7%). Population baseline characteristics are represented in Table 1.\nIndications for surgery included aphakia due to complicated cataract surgery (24.3%; n = 9); subluxated IOL due to closed trauma (21.6%; n = 8); non-traumatic, non-PEX-related subluxated IOL (18.9%; n = 7); PEX-related subluxated IOL (16.2%; n = 6); subluxated crystalline lens due to closed trauma (8.1%; n = 3); aphakia due to open-globe injury (5.4%; n = 2); silicone-induced IOL opacification (2.7%; n = 1); and aphakia post-endophthalmitis (2.7%; n = 1).\nAll patients underwent scleral fixation of an Akreos AO60 IOL using Gore-Tex suture, combined with either 23- or 25-gauge PPV. 1 eye (2.7%) underwent concomitant glaucoma surgery with Ahmed valve implantation.\nThe mean best-available preoperative logMAR VA was 1.61 +- 0.73 (0.025 decimal equivalent). The mean best-available postoperative logMAR VA was 0.57 +- 0.66 (0.3 decimal equivalent), and, globally, the improvement from pre- to postoperative best-available VA was statistically significant (P < 0.001). VA was 5/10 (logMAR 0.3) or better in 3 eyes (8.1%) preoperatively, as compared to 17 eyes (45.9%) postoperatively. Subgroup analysis considering indication for surgery revealed a statistically significant postoperative vision improvement for patients with aphakia due to complicated cataract surgery (P=0.028), subluxated IOL due to closed trauma (P=0.028), non-traumatic, non-PEX-related subluxated IOL (P=0.028), and PEX-related subluxated IOL (P=0.043). Visual improvement was noted for patients in the remaining subgroups, but this difference did not reach statistical significance. Subgroups of silicone-induced IOL opacification and aphakia post-endophthalmitis included a single eye, and statistical significance could not be calculated.\nDuring the study period, 1 eye (2.7%) had postoperative visual deterioration of 2 lines in the Snellen chart, and 7 eyes (21.6%) had no change in VA.\nThere were 3 eyes (8.1%) with reported intraoperative complications: one iatrogenic retinal hole done during vitrectomy; a flat peripherical serous choroidal detachment; and an intraoperative vitreous hemorrhage.\nPostoperative complications included ocular hypertension (27.0%; n = 10), transient corneal edema (18.9%; n = 7), cystoid macular edema (18.9%, n = 7), self-limited hypotension (5.4%, n = 2), self-limited vitreous hemorrhage (2.7%, n = 1), one case of central retinal vein occlusion (2.7%), one case of late retinal detachment (2.7%), and one case of Akreos IOL opacification (2.7%). Retinal detachment was managed with PPV with gas endotamponade; Akreos opacification is awaiting surgery to replace the IOL; the central retinal vein occlusion has been receiving intravitreal injections of 1.25 mg bevacizumab and 2 cases of macular edema resolved after intravitreal injections of corticosteroids (one case with intravitreal 2 mg triamcinolone alone, and the other with 2 mg triamcinolone, followed by 0.7 mg dexamethasone intravitreal implant). All of the other complications were managed medically, with topical treatment. No suture-related complications were observed, namely, suture breakage, IOL displacements, or suture-related inflammation. Also, there were no cases of postoperative endophthalmitis, choroidal detachment, or uveitis-glaucoma-hyphema syndrome.\nClinical outcomes are reviewed in Table 2.",
"gender": "Female"
}
] |
PMC8712131
|
[
{
"age": 74,
"case_id": "PMC6831859_01",
"case_text": "A 74-year-old man presented to our hospital with dyspnea and cough in May. He had developed productive cough, sore throat, and nasal discharge three weeks before, muscle pain two weeks before, and fever and dyspnea three days before his admission. He had no medical, family, or social history of note, and no close contact with infected people. He was an ex-smoker (10 pack-years). His vital signs included a body temperature of 37.6 C, heart rate of 116 beats/min with a regular rhythm, and blood pressure of 137/84 mmHg. On physical examination, fine crackles were audible on the dorsal side of the bilateral lower lung regions, but no other remarkable findings were seen. Chest X-ray showed consolidation and reduced volume of the right lung (Fig. 1-A). Computed tomography (CT) (Fig. 2) on admission showed bilateral consolidation (right dominant), ground-glass opacities (GGOs) around the consolidations, and air-bronchogram accompanying traction bronchiectasis within the consolidations. The GGOs in part had non-segmental distribution. His arterial blood gases under ambient air showed a pH of 7.45, PaO2 of 70.2 Torr, PaCO2 of 35.7 Torr, and bicarbonate of 24.3 mmol/L, and biochemical examination of his blood and urine showed elevation of the erythrocyte sedimentation rate and C-reactive protein and aspartate aminotransferase levels. Pneumococcal and Legionella urinary antigen test, Mycoplasma antigen from throat swab specimens, and influenza antigen from nasal swab specimens were all negative. Autoantibodies were negative. No bacteria other than oral flora were cultured in the sputum cultures. We performed bronchoscopy and bronchoalveolar lavage (BAL) in the right middle lobe (with 20 of 150 mL recovered). The total cell count of the BAL fluid was 5.3 x 105 cells/mL, including 44.7% lymphocytes (cluster designation [CD]4/CD8 ratio, 3.16), 7.1% eosinophils, and 23.9% neutrophils. BAL fluid yielded no bacteria, and adequate specimens for evaluation could not be collected from transbronchial lung biopsy.\nWe diagnosed him as having CAP and started antibiotics (ampicillin/sulbactam + clarithromycin). Consolidation and volume reduction of the right lung continued to deteriorate, reaching a peak on the 8th day of hospitalization, but they gradually improved (Fig. 1-B, C). Serum antibody titers against Mycoplasma pneumoniae, Legionella sp., Chlamydophila pneumoniae, Chlamydia psittaci, adenovirus, human parainfluenza virus, RS virus, and influenza virus in the convalescent phase did not significantly increase compared with those measured in the acute phase. Pneumonia has not recurred as of 2 years after discharge, but the reduced volume of the right lung has remained (Fig. 1-D). Multiplex real-time reverse transcriptase PCR (RT-PCR) with a commercially available kit (FTD Resp 21 Kit; Fast Track Diagnostics, Silema, Malta) for respiratory viruses using frozen-stored BAL fluid was performed later and was positive only for HPeV. We ultimately diagnosed him as having primary HPeV pneumonia.",
"gender": "Male"
},
{
"age": 46,
"case_id": "PMC6831859_02",
"case_text": "A 46-year-old man had a fever and sore throat 10 days before hospital admission, and shortness of breath developed 6 days before admission in May. A local physician diagnosed him as having CAP and administered levofloxacin, but the symptoms did not improve and he presented to our hospital. He had no medical, family, or social history of note, and no close contact with infected people. He was an ex-smoker (15 pack-years). His vital signs included a body temperature of 37.4 C, heart rate of 81 beats/min with a regular rhythm, and blood pressure of 99/66 mmHg. On physical examination, fine crackles were audible on the dorsal side of the left middle lung regions, but no other remarkable findings were seen. Chest X-ray (Fig. 3-A) showed nodular consolidation on both sides of the lungs. Chest CT (Fig. 4) on admission showed patchy consolidation and GGOs along the bronchial vascular bundle in the upper and lower lobes of left lung and S6 of the right lung. Neither traction bronchiectasis nor volume reduction of the lungs were observed. His arterial blood gases under ambient air showed a pH of 7.46, PaO2 of 85.9 Torr, PaCO2 of 36.9 Torr, and bicarbonate of 25.4 mmol/L, and biochemical examination of his blood and urine showed an elevated C-reactive protein level of 7.62 mg/dL but no other remarkable findings. Pneumococcal and Legionella antigen test in urine, Mycoplasma antigen from throat swab specimens, and influenza antigen from nasal swab specimens were negative. Autoantibodies were negative. Sputum cultures showed no bacteria cultured other than oral flora.\nWe performed BAL in the right middle lobe (with 69 of 150 mL recovered). The total cell count of the BAL fluid was 2.1 x 105 cells/mL, including 80.8% macrophages, 12.7% lymphocytes (CD4/CD8 ratio, 10.6), 4.9% eosinophils, and 1.6% neutrophils. BAL fluid yielded no bacteria, but transbronchial lung biopsy revealed organization, swollen pneumocytes, and alveolar septal thickening with inflammatory cells (Fig. 5).\nWe administered antibiotics (ampicillin/sulbactam + clarithromycin), and his clinical symptoms and chest infiltrates improved promptly after admission. A follow-up chest X-ray (Fig. 3-B) was clear, and he was discharged on the 10th hospital day with no complications. Serum antibody titer against M. pneumoniae, Legionella sp., Chlamydophila pneumoniae, Chlamydia psittaci, adenovirus, human parainfluenza virus, RS virus, and influenza virus measured in the convalescent phase did not significantly increase compared with those in the acute phase. Multiplex real-time RT-PCR for respiratory viruses using BAL fluid was positive only for HPeV. We finally diagnosed him as having primary HPeV pneumonia.",
"gender": "Male"
}
] |
PMC6831859
|
[
{
"age": 49,
"case_id": "PMC4717627_01",
"case_text": "A 49-year-old Japanese woman (gravida 4, para 3) was diagnosed with AIP at the age of 27. Our patient had repeatedly visited the hospital for stomachaches beforehand; however, approximately 2 years of consultations passed before she was accurately diagnosed. Afterwards, she avoided elements known to precipitate acute attacks, and had not experienced an acute porphyria attack since she was 33 years of age. In addition, she began hypertension treatment with amlodipine besylate at the age of 40 years, and her last pregnancy had spontaneously aborted 4 years prior to the present event. In July 2011, this patient visited a local private clinic for atypical vaginal bleeding and was referred to a general hospital because of suspected spontaneous abortion. She was subsequently diagnosed with a acute intermittent porphyria hydatidiform mole via dilatation and curettage (D&C).\nOne month after D&C, our patient presented with an elevated serum human chorionic gonadotropin (hCG) level (Fig. 1). As fertility preservation was deemed impossible, she underwent an abdominal total hysterectomy. Pathological study of the resected specimen revealed an invasive mole, but no metastasis was observed. However, our patient's serum hCG level was again elevated 1 month after hysterectomy, and she was referred to Saitama Medical Center for chemotherapy to address expected AIP-associated complications. An X-ray computed tomography scan of her chest, performed at our institution, revealed a lung metastasis. The FIGO 2000 staging and risk factor scoring system indicated a stage III:41 gestational trophoblastic neoplasia (GTN) (Tables 1 and 2), and our patient was accordingly diagnosed with a low-risk GTN. Her treatment strategy included intramuscular MTX administration at a dose of 20 mg/day for 5 days every 2 weeks.\nMTX chemotherapy was initiated after our patient provided informed consent, which included an understanding that MTX had not been implicated as either porphyrinogenic or nonporphyrinogenic. Our patient experienced small eruptions on the hands and epigastric region on day 3 of chemotherapy. However, a dermatologist did not interpret these eruptions as drug-related, and thus treatment was continued. On day 5, the eruptions expanded over her whole body and worsened, with ulcers developing on the oral mucosa (Fig. 2). Our patient was unable to eat or drink owing to the severe pain caused by mucosal erosion; moreover, she complained of painful micturition because of a sore on her vulva. A skin biopsy revealed drug eruption instead of a porphyric skin lesion. In particular, microabscesses had formed under the stratum corneum, with neutrophilic and eosinophilic invasion, and neutrophilic exocytosis was observed in the epidermis. Liquefaction was also observed between the epidermis and dermis, and eosinophilic, neutrophilic, and lymphocytic invasion from the layer between the epidermis and dermis to the superficial layer of the dermis was noted (Fig. 3). No changes in our patient's urinary coproporphyrin or uroporphyrin levels were observed despite the appearance of skin lesions (Fig. 1). She received intravenous prednisolone at 60 mg/day beginning on day 5 to treat the drug eruption.\nOn day 11, our patient experienced febrile neutropenia (absolute neutrophil count [ANC] on day 8 was 1,380/muL but decreased to 12/muL on day 11) and was treated subcutaneously with 75 mug/day of granulocyte-colony stimulating factor (G-CSF) for 3 days beginning on day 11. However, as she was unable to recover from neutropenia (ANC remained at 12/muL on day 13), additional subcutaneous G-CSF at 150 mug/day was administered for 2 days beginning on day 13, and her neutropenia finally resolved on day 15 (ANC, 1598/muL). During that time, her skin lesions and stomatitis also began to improve, and the prednisolone dose was reduced to 40 mg/day. As she was able to eat on day 17, oral prednisolone administration at 20 mg/day was started on day 20 and tapered on day 24. She was discharged on day 25.\nAlthough our patient's serum hCG level decreased with MTX treatment, it became elevated during treatment interruption. Chemotherapy with ACT-D was therefore considered. After providing informed consent to ACT-D treatment and acknowledging that ACT-D was not implicated as either porphyrinogenic or nonporphyrinogenic, our patient received intravenous ACT-D at a dose of 1.5 mg/day on days 1-5 of every 2-week period, starting on day 70 of her clinical course. As shown in Fig. 1, her serum hCG level effectively decreased, and the lung metastasis disappeared without any porphyric attacks. After five cycles of ACT-D, her serum hCG level stabilized at 3.2 mIU/mL. Although other chemotherapeutic drugs were considered, a negative serum hCG level was achieved and maintained for the following 3 years.",
"gender": "Female"
}
] |
PMC4717627
|
[
{
"age": 69,
"case_id": "PMC5114320_01",
"case_text": "A 69-year-old woman with a history of surgical mitral valve repair for severe mitral regurgitation 12 years prior presented with a 6-month history of dyspnea on exertion (NYHA functional class II), exercise intolerance, and swelling of her abdomen and lower limbs. On jugular venous examination, giant systolic pulsations with prominent V-waves, known as the Lancisi sign or C-V waves, were noted (Fig. 1a, Video appendix 1 and 2). On auscultation, a loud first heart sound was audible, with a loud pulmonary component of the second heart sound along with an apical mid-diastolic rumble. A holosystolic murmur at the left lower sternal border that increased during inspiration was also noted. Lower limb edema, ascites and an enlarged, pulsatile liver were present. Transthoracic echocardiography demonstrated normal left ventricular function with an ejection fraction of 55 % and a normal function of the mitral valve. It also confirmed the presence of a dilated right atrium and right ventricle and a severe tricuspid regurgitation (TR) with a moderately reduced right ventricular function. The patient was referred for a surgical tricuspid annuloplasty, but given an increased operative mortality risk refused to undergo the operation. \nTR is a relatively common abnormality. Since this condition is frequently asymptomatic and may not be detected on routine physical examination, it is often diagnosed solely by echocardiography. Usually, there are no specific signs or symptoms. Yet, in case of severe TR, giant C-V waves or the Lancisi sign can be found on the jugular venous examination. With increasing tricuspid regurgitation, there is an increased backflow of blood to the right atrium during systole. In patients with severe tricuspid regurgitation, the V wave of tricuspid regurgitation merges with the C wave forming a single prominent C-V wave that is often mistaken for the large carotid-pulse wave of severe aortic regurgitation. Other signs and symptoms include painful hepatosplenomegaly, ascites, and peripheral edema. Auscultation reveals a loud first heart sound with a loud pulmonary component of the second heart sound, an apical mid-diastolic rumble, and a holosystolic murmur at the left lower sternal border. Generally, tricuspid valve disease occurs secondary to left-sided heart valve disease, in particular mitral valve disease (i.e., functional TR) (Appendix 3). It is a marker of adverse outcome, and patients with moderate/severe TR have a worse prognosis. Primary TR (Appendix 3) is treated surgically if severe, and the patient is symptomatic. However, during concomitant left-sided heart valve surgery, a moderate/severe secondary TR with either raised pulmonary artery pressures or tricuspid annular dilatation should also be treated.",
"gender": "Female"
}
] |
PMC5114320
|
[
{
"age": 29,
"case_id": "PMC3894025_01",
"case_text": "A 29-year-old primigravida started with pain and mild heaviness in the both lower limbs distally associated with occasional pins and needles sensation in 35th week of pregnancy. Her symptoms were progressive. Over the next 10 days, the patient noticed knee buckling with frequent falls and difficulty in sitting and standing from supine position. At the end of 36th week, an emergency LSCS (lower segment caesarian section) was performed for decreased fetal heart rate. LSCS was uneventful and a healthy baby was born. Second post-partum day, the patient was discharged. On third post-partum day, the patient complained of weakness all the four limbs (in addition to persisting symptoms), more in lower limbs and was not able to maintain the erect posture. In this state, the patient was brought to our accident and emergency department. A detailed history was taken which revealed initiation of symptoms during third trimester of pregnancy without any preceding illness. Subsequent clinical examination revealed sinus tachycardia, fluctuating hypertension, power of 4/5 in upper limbs, 3/5 in lower limbs, hypotonia, areflexia (lower limbs), flexor plantar response, and mild involvement of all the modalities of sensation. A working diagnosis of GBS was made and all other investigations including nerve conduction studies, arterial blood gases, electrolytes, and later cerebrospinal fluid analysis were planned.\nArterial blood gas analysis showed pO2=89 mmHg, saturation = 94.6%, pCO2=42 mmHg, and pH = 7.39. Serum potassium was 4.1 meq/L, sodium 136 meq/L and bicarbonate 25 meq/L. Electrocardiography showed sinus tachycardia and routine blood chemistry was normal. Serological tests for campylobacter jejuni, EBV, cytomegalovirus, and mycoplasma pneumonae were negative. Electrophysiological studies revealed decreased amplitude of compound action potentials in median and common peronial nerves with decreased conduction velocity and abnormal F waves. After 7 days, lumbar puncture was performed and cerebrospinal fluid chemistry revealed raised protein of 7.8 g/L and normal cell count, confirming the diagnosis. The patient received treatment in the form of physiotherapy and close observation of symptoms and signs to which she rapidly responded with respect to power and sense of well-being over next 72 h, without the intervention of immunomodulating drugs. Sinus tachycardia and episodic hypertension was treated with atenolol. The patient was discharged after 2 weeks of hospital stay with power of 5/5 in upper limbs, 4+/5 in right lower limb, and 4/5 in left lower limb with persisting areflexia in lower limbs.",
"gender": "Female"
}
] |
PMC3894025
|
[
{
"age": 19,
"case_id": "PMC6834456_01",
"case_text": "The patient is a 19-year-old female with Turner syndrome. She presented at our hospital after acute exacerbation of low back pain that had been present for one month. Her body height was 140 cm, and her weight was 39 kg. Tenderness was noted in the left buttock, but no lower limb muscle weakness or sensory disorders were observed. Plain radiographs showed an osteolytic lesion involving the left L5 vertebra with a winking owl sign observed on anteroposterior(AP) views (Fig. 1a). Computed tomography (CT) revealed pathological fractures of the L5 vertebral body and left pedicle along with osteolytic changes (Fig. 1b). Magnetic resonance imaging (MRI) revealed a lobulated lesion with fluid-fluid levels in the left vertebral arch, pedicle, and vertebral body of the L5 vertebra with high and low signal intensities on T2- and T1-weighted images, respectively. (Fig. 2a, b).\nAn aneurysmal bone cyst (ABC) of the L5 vertebra was suspected from the image findings. We performed preoperative arterial embolization of the bilateral L4 lumbar arteries and the left iliolumbar artery to prevent intraoperative hemorrhage (Fig. 3a). Using intraoperative navigation to identify tumor margins, a thorough curettage was performed to remove the tumor (Fig. 3b). Rapid intraoperative diagnosis supported the diagnosis of ABC. The final pathological diagnosis of ABC was made by confirming the fibrous connective tissue accompanied by capillary proliferation and partial fibrin deposition, with no signs of malignancy (Fig. 3c, d). Pedicle screws were inserted into L4 and S1, and an expandable cage packed with autologous bone chips was placed between the vertebral bodies to reconstruct the lumbar spine's anterior strut (Fig. 4a).\nAfter surgery, she had complete pain relief. At two years follow up, CT and MRI showed no apparent signs of recurrence (Fig. 4b, c).\nABC frequency is reported to be approximately 1.4% of all primary bone tumors, with 3-30% of the cysts originating in the spinal column). In the spine, ABCs mostly occur in the thoracic or lumbar spines of young patients aged 10-20 years, with approximately 60% affecting the posterior spinal column components). The treatment options for ABC are surgical curettage and bone transplantation), embolization), radiotherapy), and drug injections). Recently, the effective treatment of ABC with embolization alone was reported), but there is a risk of spinal cord infarction due to inadvertent embolization of the Adamkiewicz artery. Therefore, surgery has been selected in most cases to treat ABC that arise in the spine, but there are reports of severe intraoperative hemorrhage,). Therefore, recent reports on ABC treatment often include accounts of surgical treatment with preoperative arterial embolization,). Along with the therapeutic effects of embolization, the reduction in intraoperative hemorrhage allows the surgeon to operate safely and precisely. In this case, arterial embolization was suitable because the ABC was localized in the L5 vertebra, where there is a low risk of embolizing the Adamkiewicz artery. Since she had a pathologic fracture of L5, we selected surgery instead of observing the effects of embolization.",
"gender": "Female"
},
{
"age": 19,
"case_id": "PMC6834456_02",
"case_text": "This case is rare because of the coexistence with Turner syndrome. Patients with Turner syndrome are mainly characterized by a short stature and lack of secondary sexual characteristics). The risk of gonadoblastoma, colon cancers, and central nervous system tumors have been reported to be greater in patients with Turner syndrome than in the normal population, possibly due to the allelic losses of the X chromosome which has been shown to contains genes related to immunity and cancer. Growth hormone therapy, to treat these patients' short stature, may also increase the risk of cancer). Since this patient had received previous growth hormone therapy to increase her growth rate, it is possible that the growth hormone therapy may have lead to the onset of ABC. However, there has been no report of ABC occurring in a patient with Turner syndrome, so the relationship between Turner syndrome and ABC may not be strong. The height of the present case was 140 cm, which is short compared with the mean body height (157.7 cm) of 19-year-old Japanese females. Since she was without neurological symptoms, we were able to preserve the nerve roots by locally adjusting the cage height with an expandable cage to reconstruct the anterior column).\nHere we reported a case of ABC occurring in the spinal column of a patient with Turner syndrome who was treated with preoperative embolization, surgical curettage, and posterior fixation using an expandable cage.\nConflicts of Interest: The authors declare that there are no relevant conflicts of interest.\nAuthor Contributions: Tadashi Nukaga, and Akihiko Hiyama wrote and prepared the manuscript, and all of the authors participated in the study design. All authors have read, reviewed, and approved the article.",
"gender": "Female"
}
] |
PMC6834456
|
[
{
"age": 39,
"case_id": "PMC4258217_01",
"case_text": "We report the case of a 39 years-old female, with no past medical history, whose complaint was a spontaneous one week evolving isolated left cruralgia. The clinical examination was unremarkable apart from an anterior thigh pain at the mobilization of the left hip. No quadriceps hypotrophy, no fever and no limitations in the joints motion were found. Plain radiographs of the pelvis and proximal femur showed hypercondensation of the medial cortex of the left femur below the calcar, the classic flowing candle wax, combined with condensation of the iliac side of the sacroiliac joints bilaterally (Figure 1). Lab tests were normal. The diagnosis of melorheostosis was raised and we completed the explorations by a whole body bone scan that showed increased uptake in the proximal left femur and both sacroiliacs. CT of the pelvis and left femur was performed and showed an hypercondensation in the medial cortex of the left femur, and a bilateral condensation of the iliac side of the sacroiliac joints (Figure 2, Figure 3). The patient was put under analgesics and nonsteroidal anti -inflammatory drugs, with improvement of symptoms from J3 of hospitalization. An MRI was performed and showed the same bone condensation without extensions to the soft tissues (Figure 4). Given these findings, biopsy was not performed, and the patient was discharged to be followed in our consultation by standard radiographs every three months, and an annual bone scan. At last follow up, two years of the first consultation, two episodes of left cruralgia have been reported, and yielded by three days anti -inflammatory treatments. Scintigraphy (Figure 5) and plain radiographies remained similar to initial assessments.",
"gender": "Female"
}
] |
PMC4258217
|
[
{
"age": 26,
"case_id": "PMC6396444_01",
"case_text": "We present the case of a 26-year-old male who is referred to the digestive consultation by two episodes of spontaneous paraesophageal abscess in an interval of 2 years.\nIt is a patient with no pathological history of interest that is presented in the Emergency Service for dysphagia for solids of 3 days of evolution that at the same time was suffering stabbing chest pain and fever of up to 38.8 C in the last 24 h. In the last year the patient had already been in the Emergency Room (ER) twice for chest pain with non-altered complementary tests. The patient denies having any traumatic history or onset of symptomatology after food impaction. The physical examination shows no abnormality on a hemodynamically stable patient. It is performed a blood test showed a C reactive protein (CRP) 190 mg/L (Normal values 0-5 mg/L), and white blood cells 12,000/muL (Normal values 4000-10,000). For that reason it is decided to perform thoracic-abdominal computed tomography (CT), where a collection of 8 x 4 x 5 cm is displayed in the third inferior-posterior of the esophagus compatible with hematoma vs mediastinal abscess (Fig. 1).\nThe surgery service is contacted and it is decided to choose the conservative treatment with broad-spectrum antibiotics and absolute diet. During the admission, a echocardiogram with normal results was performed, an esophagogram that does not present alterations and a gastroscopy, where a linear ulcer of 5 mm in distal third of esophagus with biopsy that shows granulation tissue was found.\nThe patient is discharged 7 days after, with the normalization of his analytical and clinical parameters, and showing a correct oral tolerance for later control in consultations.\nAn outpatient USE is requested 3 weeks later, after being discharged, where no paraesophageal collection is displayed. Gastroscopy was repeated where the esophageal ulcer is not visualized and biopsies are taken from the distal and proximal esophagus. In those biopsies, it is noticed an eosinophilic inflammatory infiltration of 40 eosinophils per field.\nThe patient does not attend any control, so no treatment is started.\nOne year later the patient returns to the emergency department with chest pain and dysphagia with same characteristics, and elevation of CRP and white blood cells. Again, a toraco-abdominal CT is performed, objectivizing mediastinal collection in the same location as 1 year before, with a size of 7 x 4 x 4 cm, compatible with abscess, which is retreated in a conservative manner with broad spectrum antibiotics. After 10 days, a CT control confirms resolution of the collection.\nAmbulatory gastroscopy is performed with biopsy-taking by objectivizing an eosinophilic inflammatory infiltrate compatible with eosinophilic esophagitis.\nThe patient denies dysphagia, chest pain, heartburn or any other clinic between episodes of mediastinal abscess.\nIt starts treatment with proton pump inhibitor in double doses during 8 weeks, persisting the eosinophilic inflammatory infiltrate in the biopsies. It is agreed a diet with the patient where two foods will be removed (milk and wheat), obtaining histological remission, and identifying the milk as the cause of the inflammation.\nAfter 2 years of follow-up, the patient maintains milk and derivatives restriction, and has not shown again any episodes of mediastinal abscess.",
"gender": "Male"
}
] |
PMC6396444
|
[
{
"age": 56,
"case_id": "PMC6742877_01",
"case_text": "A 56-year-old diabetic, hypertensive man on antipsychotic medications who jumped from about 30 feet height, sustained polytrauma and was admitted in a local hospital. After initial resuscitation and advanced trauma life support (ATLS) care, he was intubated and put on ventilator support. He was diagnosed with bilateral hemothorax and his right lower limb X-rays showed fracture lower one-third femur with extensive metadiaphyseal comminution and fracture ipsilateral proximal tibia extending to metaphysis. A locking distal femoral locking plate was present and had bent (Fig. 1). As per records, he had 3*2cm wound on anterior aspect of thigh which was thoroughly washed, debrided, and sutured and damage control surgery was done in the form of knee-spanning fixator (Fig. 2)and the patient was put on intravenous antibiotics. He stayed in the intensive care unit (ICU) for 7 days, after which he was shifted to our center. As a part of repeat evaluation, all his necessary X-rays were retaken(Fig. 3)which revealed resolution happening in bilateral hemothorax. The right lower limb X-rays revealed knee-spanning external fixator with fracture of lower end femur and proximal end tibia with bent implant in situ (Fig. 2). The patient was kept in the ICU till he was fit for subsequent intervention and appropriate treatment in the form of intravenous antibiotics and deep vein thrombosis prophylaxis was given. During this period, the patient had low-grade fever, but his inflammatory markers were normal and the wound over the thigh was healthy. On the 8thday, he was taken up in the operation theater with intubation on. Before removing external fixator, the wound present on anterior aspect of distal thigh was again debrided and found to be clean; then, the decision to proceed further was made and the external fixator was removed. The distal femur was opened through lateral approach using liberal skin incision(Fig. 4). After splitting the distal part of tensor fasciae latae, the distal locking screws were removed. Since the plate was bent, a bone hook was used to pull out the proximal end of plate laterally. Now, the position of the proximal screws was marked under C-arm control using an artery forceps. Each screw head was cleared causing minimal muscle damage and they were removed in a minimally invasive fashion, thus preserving the biology of zone of comminution and the plate was gently levered out. Following implant removal, we identified that there was another fracture line in coronal plane just posterior to plate application in the articular block which was identified as lateral condyle Hoffa fracture. The articular reconstruction was first done and the Hoffa fracture was fixed using single partially threaded cancellous screw. Manual linear traction was applied to the limb after reconstructing articular block and grossly comminuted fragments were seen to be aligned, so no attempt was made to open the comminuted area. The length of the limb was maintained by giving linear traction and an electrocautery was used to ensure that the center of femoral head, patella, and second toe lie in same line and checked under C-arm to maintain the correct rotation of the limb. The longest available distal femur locking plate (A.O SYNTHES) in the set was slid in a MIPPO fashion bypassing the zone of comminution after reconstructing the articular block. Same incision was extended below knee to expose proximal tibia and the longest available lateral tibia locking plate(A.O SYNTHES) was slid in a MIPPO manner bypassing the comminution. Now, after fixing both the fractures, the knee was examined for ligamentous instability and it was found to be globally unstable in both the planes. Considering the gross comminution in both femur and the tibia, and the being an open fracture, it was decided to wait for ligamentous reconstruction till bony union was achieved. Wound was sutured in layers over negative drain and a long knee brace was given to the patient since the knee was unstable in both the planes. The patient was shifted out of theater in an intubated state. Immediate post-operative X-rays revealed satisfactory alignment of both fractures, (Fig. 5). During the next 7 days, the patient remained intubated and during this period, the passive movement of joints was given, the limb was elevated and the stitch line was carefully monitored. Once the patient was extubated on the 8th day, it was found that there was an associated foot drop which was missed preoperatively since the patient was in an intubated state. The foot drop splint was applied accordingly and physiotherapy in the form of guarded ROM and muscle strengthening exercises was started. We could not ambulate the patient as he had another fracture in the wrist in the recent past, (Fig. 6). The wound healing was bit delayed but it was ultimately uneventful. An X-ray was taken at 6 weeks post-operative which revealed satisfactory alignment(Fig. 7) and toe touch weight-bearing with long knee brace was started under supervision of trained physiotherapists. The patient was further followed up at 1 month interval and during this rehabilitation period, special attention was given to his psychiatric care. At the latest follow-up of 6 months, the patient had radiological and clinical evidence of union (Fig. 8). At the last available follow-up, the ligamentous instability still persisted, and with long knee brace, he was able to stand and walk. The foot drop was also recovering and there was no extension lag and knee flexion was upto 90 (Fig. 9). At this moment, he was properly counseled and explained in detail about all the available options in the form of arthrodesis, hinged knee arthroplasty, and ligamentous reconstruction, but the patient opted for non-operative management in the form of long knee brace for the time being.",
"gender": "Male"
}
] |
PMC6742877
|
[
{
"age": null,
"case_id": "PMC9108155_01",
"case_text": "Somatically, the patient had no significant medical or surgical history, and in particular no documented drug allergy or AE. He had grade 1 obesity (99 kg, 180 cm, BMI: 30.56), was an active smoker, and had a history of addiction (cannabis) from which he had been abstinent for several years.",
"gender": "Male"
},
{
"age": 19,
"case_id": "PMC9108155_02",
"case_text": "Psychiatrically, the patient had a history of schizoaffective disorder diagnosed at the age of 19 (illness duration of 10 years) according to DSM5 criteria, in combination with antisocial personality disorder and substance use disorder. Illness recurrences came in the form of acute manic psychosis, which were often triggered by a discontinuation of treatment and required multiple psychiatric hospitalizations (5 within the past 2 years), the most recent of which were by involuntary care.\nTherapeutically, the initiation of long-acting injectables (LAI) in the form of Risperidone extended-release (ER) (50 mg/14 days) first of all ensured an initial period of clinical stability. However, 2 years before the onset of the current episode, a decompensation while on a single antipsychotic agent had motivated the initiation of a mood stabilizer (Valproate semisodium, 2,000 mg/d, with serum valproate concentration of 62 mg/L, within the therapeutic range of 41-100 mg/L) combined with antipsychotic treatment with paliperidone ER (100 mg/28 d). This dual therapy was then replaced by a combination of valproate semisodium (2,000 mg/day) and Risperidone (4 mg/d) in a context of absenteeism from outpatient follow-up. Six months prior to the onset of the current episode, dual therapy with valproate semisodium (2,000 mg/d) + paliperidone ER (100 mg/28 d) was re-initiated, with a well-tolerated dosage increase (to 2,500 mg/d and 150 mg/28 d, respectively, accompanied by an elevation in serum valproate levels from 67 mg/L before to 97 mg/L after drug dosage increase) without any further adjustment in the 4 months preceding this episode.",
"gender": "Unknown"
},
{
"age": null,
"case_id": "PMC9108155_03",
"case_text": "After a short period of clinical stability however, a further interruption of both outpatient follow-up and drug treatment was accompanied by an increase in both manic (elated mood and psychomotor agitation) and psychotic symptoms (delusions of grandeur and persecution) leading to behavioral disturbances and hetero-aggressive threats against his neighbors. After police intervention, the patient was transported to the psychiatric emergency services for medical assessment, and hospitalized without consent in a psychiatric care unit, where further examinations were performed.",
"gender": "Male"
},
{
"age": null,
"case_id": "PMC9108155_04",
"case_text": "Due to a relapse with a serum valproate level suggestive of drug non-compliance on admission (serological concentrations of valproate measured at 23 mg/l on admission, below the therapeutic range), the drug was re-prescribed at the usual doses and supplemented with diazepam, a benzodiazepine drug, and levomepromazine, a phenothiazine antipsychotic with tranquilizer properties. When clinical deterioration (acute manic psychosis with grandiose delusions and psychomotor agitation) again occurred under effective treatment [i.e., despite a serum valproate level within the therapeutic range (91 mg/l)], a change in mood stabilizer was proposed in an overlap-and-taper strategy, after pre-therapeutic assessment (with no outstanding features). Considering that the patient had many illness recurrences of manic polarity with psychotic symptoms, as well as a high metabolic syndrome risk valproate was replaced with lithium as mood stabilizer, which was initiated (day 0) at 400 mg/d. However, after the third administration of slow-release lithium salt, signs of fluctuating temporal disorientation signaled the onset of an acute confusional syndrome (d3). An iatrogenic etiology was immediately suspected, which led to the discontinuation of lithium the same day (d3) and the confusional syndrome was etiologically assessed.",
"gender": "Unknown"
},
{
"age": null,
"case_id": "PMC9108155_05",
"case_text": "Clinically, the patient presented with psychomotor retardation, disorders of alertness and global cognitive impairment [Mini-Mental State Examination (MMSE) score of 15/30; Frontal Assessment Battery (FAB) score of 3/18 ] with no clinical signs on general or neurological examination). Biological examinations (complete blood count, electrolytes, liver, kidney, thyroid, coagulation and vitamin workup) revealed no significant abnormality (day 3). The brain computed tomography (CT) scan (day 5) showed nothing abnormal. The electroencephalogram (EEG) (d5) showed no seizure activity but presented a pattern indicating encephalopathy (fluctuating and slowing background activity with theta/alpha and delta waves, predominant in the posterior regions, reactive to verbal stimulation and with the change to eyes-open). Pharmacologically, serum lithium level measured 24 h after the third intake (day 3) showed subtherapeutic doses (undetectable <0.05 mmol/l; N: 0.8-1.2 mEq/l), whereas the serum valproate level was consistent with an overdose (130 mg/l) and was accompanied by a threefold elevation in serum ammonia level (182 mumol/l; N: 16-60). In addition, the blood toxicology screen showed cannabis use (THC-COOH: 16.9 ng/l) but did not suggest associated substance use.\nThe diagnosis of drug-induced hyperammonemic encephalopathy (HAE) was therefore proposed, and the valproate semisodium dose was decreased under clinical supervision (2,000 mg/d on day 4, 1,500 mg/d on day 6). The neurologist recommended no other urgent course of action.",
"gender": "Unknown"
},
{
"age": null,
"case_id": "PMC9108155_06",
"case_text": "Dose reduction resulted in rapid neurological improvement, both clinically and on the electroencephalogram [check on day 7, i.e., 3 days (steady-state) after the first valproate semisodium dose reduction], associated with normalization of serum valproate (79 mg/l on day 7; 5 mg/l on day 10) and serum ammonia (66 mumol/l on day 7; 32 mumol/l on day 10) levels. However, regression of the encephalopathic condition quickly gave way to the reappearance of psychiatric symptoms due to the lack of effective treatment, which justified a re-increase in valproate semisodium dosage (2,500 mg/d on day 12, 5 days after the regression of the neurological disorders) and a monthly injection of paliperidone, which once again stabilized the patient without any clinical or biological adverse effect observed in 1 month (serum valproate level: 61 mg/l and serum ammonia level: 27 mumol/l on day 38, on valproate semisodium 2,500 mg/d).",
"gender": "Unknown"
},
{
"age": null,
"case_id": "PMC9108155_07",
"case_text": "After requesting an opinion from a pharmacology specialist:and in the absence of documentation in the literature regarding the possibility that lithium may have contributed to the picture presented, a change in mood stabilizer was again considered at day 46 (day 0') according to the same modalities. lithium was initiated at 400 mg/d, valproate semisodium was progressively decreased (2,000 mg/d on day 0', 1,500 mg/d on day 3' [...] discontinuation on day 12') and the patient was reassessed daily. No clinical adverse effects were reported. However, biologically, the results of the test done on day 6' showed an infratherapeutic serum lithium level (0.26 mEq/l with 400 mg/d of lithium) and a 6% increase in serum valproate level compared to the test done 2 weeks earlier (89 mg/l on day 6' compared to 61 mg/l on day 38), despite a 40% decrease in the valproate semisodium dose administered since the last test (1,500 mg/d on day 6' compared to 2,500 mg/d on day 38). In addition, this elevated serum valproate level was again associated with hyperammonemia (90 mg/l), with no proven consumption of toxic substances (negative urine toxicology screen).\nThe first administration of lithium salts was temporally related to an elevation of valproate serum levels, which was in turn associated with hyperammonemia and signs and symptoms of encephalopathy, which resolved after lithium discontinuation and progressive reduction of valproate semisodium dosage. The rechallenge of the combination long after the first episode then enabled a more objective examination of another increase in the serum valproate level, with more moderate hyperammonemia (without encephalopathy or associated clinical signs), concomitant with the re-initiation of lithium, despite a progressive decrease in the doses of valproate semisodium administered (Figure 1).",
"gender": "Unknown"
}
] |
PMC9108155
|
[
{
"age": 21,
"case_id": "PMC9302883_01",
"case_text": "The patient, a 21-year-old Uygur male, had a history of fever and diarrhea for 8 days, with the highest body temperature of about 38.6 C, accompanied by chills, and sparse watery stool several times, without abdominal pain. Due to the intermittently increased temperature after taking non-steroidal anti-inflammatory drugs (NSAIDs), the patient was treated in the fever clinic but got a poor treatment effect, therefore he was admitted to the emergency department on October 10, 2021.\nPhysical examination on admission showed a body temperature of 38 C, pulse of 102 times/min, respiration of 23 times/min, and blood pressure of 125/72 mmHg, with clear consciousness, palpable spleen under the ribs. No other significant abnormalities were found in other physical examinations.\nEmergency laboratory analysis in the emergency department indicated the following: white blood cell count decreased from normal range to 1.56 x 109/L (reference value, RV 3.5-9.5 x 109/L), hemoglobin was 166 g/L (RV 130-175 g/L), platelet decreased from normal range to 74 x 109/L (RV 125-350 x 109/L), aspartate aminotransferase was 150u/L (RV 15-40 u/L), lactate dehydrogenase was 1249 u/L (RV 109-245 u/L), triglyceride was 2.29 mmol/L (RV 0.45-1.7 mmol/L), sodium was 124.2 mmol/L (RV 137-147 mmol/L), fibrinogen decreased from normal range to 1.27 g/L (RV 2-4 g/L), sCD25 was 25,398 pg/mL (RV < 6,400pg/mL), ferritin was 3671u g/L (RV 30-400ng/mL), natural killer cell activity was 18.48% (RV >= 15.11%). G-test (serum (1,3)-beta-D-glucan test) was positive, GM-test (galactomannan test) was negative, and blood culture, procalcitonin, c-reactive protein, erythrocyte sedimentation rate and T-SPOT.TB test were all negative. Mycoplasma pneumoniae antibody IgM (Passive Particle Agglutination, FUJIREBIO) was 1:80 positive (RV < 1:20), Legionella pneumophila antibody IgM (ELISA, Euroimmun) was 0.82 positive (RV < 0.8). The detection of Cytomegalovirus (CMV), Epstein Barr virus (EBV), Adenovirus and Coxsackievirus were all negative (real-time PCR). The oncological and immunological indexes were normal. Plain CT scan of the thoracoabdominal basin showed mild fatty liver and splenomegaly (Figure 1). There are many small lymph nodes in the hepatogastric space and retroperitoneal space.\nReferring to HLH-2004 diagnostic criteria, the patient met the following conditions: (1) Temperature > 38.5 C for more than 7 days; (2) Hemocytopenia (WBC <10 x 109/L, PLT <100 x 109/L, hemoglobin 166 g/L); (3)Splenomegaly; (4)Low fibrinogen (FIB <1.5 g/L) and high triglycerides (2.29 mmol/L), although not meeting the diagnostic criteria (3 mmol/L); (5)Ferritin > 500u g/L;(6)sCD25 > 6,400 pg/mL. Considering the definitive diagnosis of HLH, the patient was treated with 20 g immunoglobulin QD (8 days) and 0.5 g imipenem cilastatin sodium Q8H, and his leukocytes, platelets, and fibrinogen gradually returned to normal levels. However, on day 14 after his onset, the patient developed a series of symptoms of peripheral nerve involvement, as shown in Table 1.\nLumbar puncture was performed on the 16th day. Cerebrospinal fluid showed a low pressure and turbid appearance, containing 150 white cells/muL (90% lymphocytes, 10% neutrophils), protein 1.09 g/L, glucose 2.37 mmol/L, and chlorine 100.6 mmol/L; Bacteria, fungi, cryptococcus, and Mycobacterium tuberculosis were all negative; Rubella virus, CMV and EBV IgM antibody and DNA were later reported as negative. CSF and serum albumin data: CSF and serum albumin was 3.27 and 37 g/L, respectively (October 19); while 1.09 and 32.6 g/L, respectively (October 22). The albumin quotient (albumin in CSF/albumin in serum) indicated that an increased permeability of the blood-brain. No abnormality was found in CSF next-generation sequencing technology (NGS) implemented by Biotechnology Co., Ltd. Briefly, they optimized the internal index adapter and real-time analysis pipeline, established the optimal threshold for pathogen identification, and performed rapid metagenomic-NGS analysis. Peripheral neuropathy, demyelination, paraneoplastic tumor, autoimmune brain-related antibodies, serum antibodies IgM and IgG of C. jejuni were positive by enzyme-linked immunosorbent assay (ELISA), performed by Dr. Hao from the first hospital of Peking University, The values of IgM and IgG were greater than the negative control values (the cut-off values were 0.08 and 0.16 respectively) even after 1:160 dilution. Given the clinical presentation and CSF findings, based on intravenous dexamethasone of 20mg QD, the treatment regimen was adjusted to meropenem 1000 mg Q8H combined with acyclovir 60 mg Q8H and Mecobalamin 500 ug QD. On the 18th day, the patient's body temperature dropped to normal. On the 19th day, the lumbar puncture was performed again, and the cerebrospinal fluid became clear. CSF laboratory examination showed white blood cell count of 91/muL (92% single nucleus, 8% multiple nuclei), protein level of 3.27 g/L, normal glucose and chlorine, as well as negative NGS. Electromyography (Table 2) and cranial MRI were generally normal.\nConsidering the peripheral nerve injury and cerebrospinal fluid protein cell separation, GBS secondary to C. jejuni infection was specifically classified as Miller Fisher syndrome (MFS) and Bickerstaff brainstem encephalitis. On the 23rd day of onset, the diameter of the right pupil gradually recovered to 4 mm the pupillary light reflex, and the closing function of the right upper eyelid gradually recovered. On the 26th day, dexamethasone was reduced to 10 mg QD. On the 27th day, the left pupil diameter recovered to about 4 mm, and the pupillary light reflex recovered. On the 28th day, the patient defecated autonomously. On the 41st day, spontaneous urination recovered, and the patient was hospitalized for 42 days. Before discharge, the patient had left bilateral facial paralysis and mild diplopia in both eyes. One month after discharge, the patient was followed up, leaving slight facial paralysis, and other symptoms returned to normal.",
"gender": "Male"
}
] |
PMC9302883
|
[
{
"age": 44,
"case_id": "PMC6205350_01",
"case_text": "A 44-year-old male presented to the hospital with chief complaints of right foot pain, swelling and inability to ambulate. Medical history was significant for type 2 diabetes mellitus, diabetic foot ulcer, and osteomyelitis of right foot status post intravenous antibiotics through a peripherally inserted central catheter (PICC). On physical examination, the patient was noted to have bilateral lower extremity edema and a right foot plantar ulcer associated with erythema and warmth. Magnetic Resonance Imaging of right foot showed hallux Metatarsophalangeal (MTP) plantar soft tissue ulcer with gas locules at hallux MTP joint associated with Hallux metatarsal/proximal phalangeal osteomyelitis with septic arthritis. The patient underwent a right foot partial first ray amputation. Also, a Computed Tomography of chest obtained for shortness of breath revealed an incidental segmental and subsegmental bilateral upper lobe pulmonary emboli and a right upper lobe wedge-shaped peripheral ground glass and cavitary opacities consistent with pulmonary infarcts.\nCultures were obtained from peripheral blood and PICC line. Both grew Achromobacter xylosoxidans/denitrificans which was resistant to meropenem, cefepime, piperacillin/tazobactam aztreonam, gentamicin, and tobramycin and sensitive to ciprofloxacin, levofloxacin, and Bactrim. A. xylosoxidans was considered MDR and the PICC was considered the primary source of bacteremia. Repeat blood cultures after three days of empiric antibiotic therapy were negative. The PICC was removed and a new PICC was placed and the patient was subsequently discharged on intravenous ciprofloxacin and vancomycin for six weeks. Also, a transesophageal echocardiogram was negative for vegetation and endocarditis was ruled out.\nThree months later, the patient was readmitted for chest tightness associated with a productive cough and nausea which were present for four days prior to presentation. On physical examination, the patient was noted to have right sided crackles, bilateral lower extremity edema, and a right foot plantar ulcer. The patient was tachycardic with a heart rate of 112 and afebrile. Laboratory studies revealed an elevated leukocyte count of 17 k/ul with a neutrophil predominance of 79% and low hemoglobin of 8.5 g/dL. He had normal electrolytes, normal kidney function and normal liver enzymes. Initial imaging with chest x-ray showed right lung opacity with lower lobe predominance. On further imaging with a Computed Tomography of the chest revealed no evidence of PE and showed right lower lobe consolidation with small right pleural effusion, right upper lobe consolidation with partial ground glass opacity and a right upper lobe cavitary lesion measuring 3.5 x 2 cm. The effusion and consolidations were new whereas the cavitary lesion was thought to be secondary to ischemic necrosis of previous pulmonary infarction at the same location.\nA diagnostic thoracentesis was done which showed turbid fluid with a total nucleated cell count of 36034/muL with 67% segmented granulocytes and many bacteria seen on gram stain. The Pleural fluid cultures grew E. coli which was resistant to ampicillin, gentamicin, levofloxacin, and ciprofloxacin and sensitive to ceftriaxone, Bactrim, aztreonam, cefepime, meropenem, imipenem, piperacillin/tazobactam and S. anginosus which was pan-sensitive to ceftriaxone, clindamycin, vancomycin, levofloxacin, erythromycin. E. coli was considered MDR and the patient was started on intravenous zosyn and a video-assisted thoracoscopic surgery with decortication was done for right pleural empyema. The patient's clinical condition was initially improving but after an extensive hospital stay he subsequently died after a cardiac arrest (see Fig. 1, Fig. 2, Fig. 3).",
"gender": "Male"
}
] |
PMC6205350
|
[
{
"age": 62,
"case_id": "PMC10323808_01",
"case_text": "A 62-year-old female renal transplant recipient was admitted to hospital on 20 August 2021, with a 5 week history of recurrent fevers and progressive dry cough without haemoptysis or dyspnoea. She did not report any unintentional weight loss, night sweats, fatigue or altered mentation. She had no recent sick contact exposures (including no prior risk of exposure to tuberculosis) or significant travel history. Her past medical history included deceased donor renal transplant in October 2012, stable on tacrolimus and mycophenolate mofetil without any history of rejection. Other medical and surgical history included workup for chronic hypophosphataemia and hypocalcaemia requiring weekly electrolyte replacement infusions via Groshong line (inserted March 2021), prior hemicolectomy for diverticular disease and parathyroidectomy.\nOn examination, she was haemodynamically stable with blood pressure of 151/67, pulse rate of 69 beats min-1 and body temperature of 36.8 C. Lung auscultation was normal without any bilateral adventitious sounds, and cardiovascular examination did not reveal any murmurs or other stigmata of infective endocarditis. Groshong line site did not demonstrate purulent discharge or overlying cellulitis. Laboratory investigations showed a peripheral white blood cell count of 5.1x109 l-1 (normal range 4.5-11.0x109 l-1) with a neutrophil count of 3.4x109 l-1 (normal range 2.0-8.0 x 109 l-1). Inflammatory markers were elevated with C-reactive protein of 23.2 mg l-1 (normal <3.1 mg l-1).\nChest radiograph followed by whole-body computed tomography (CT) scan revealed multifocal ground-glass opacities suspicious for pulmonary septic emboli, without cavitary lesions (Fig. 1). Transthoracic and subsequent trans-oesophageal echocardiography were negative for vegetations or haemodynamically significant valvular dysfunction.\nIn the context of recurrent fevers occurring in temporal relation to weekly electrolyte infusions, outpatient blood cultures were initially obtained 2 weeks prior to admission and Gram-positive bacilli were only isolated from the aerobic bottle. The patient was initiated on intravenous (IV) vancomycin. Questions remained as to whether the positive blood culture was attributable to contamination and initially the organism was not identified using MALDI-TOF VITEK MS V3 (bioMerieux, Marcy L'Etoile, France). Subsequent repeat blood cultures collected both from peripheral draw and tunnelled Groshong line over a 2 week period continued to isolate Gram-positive bacilli only in aerobic bottles (Figs 2 and 3). The organism showed beige, non-haemolytic colonies that were mucoid in appearance and adherent to media, catalase-positive and partially acid-fast. In our local microbiology laboratory, API Coryne system (bioMerieux, Marcy L'Etoile, France) gave an identification of Rhodococcus spp.\nInoculum was prepared from blood agar after incubating the isolate for 3-5 days at 35 C (+/- 2 C), with suspension made to 0.5 McFarland standard. The minimum inhibitory concentrations (MICs) were determined using E-test gradient strip (bioMerieux, France) as part of non-standardized susceptibility testing for this isolate. Findings were interpreted as per Clinical and Laboratory Standards Institute (CLSI) M24. The results showed susceptibility to amoxicillin/clavulanate, azithromycin, ciprofloxacin, linezolid, penicillin and vancomycin; it was intermediate to doxycycline. Hence, oral ciprofloxacin 500 mg twice daily was added to the patient's regimen on the third day of admission as combination antimicrobial therapy. As her Groshong line was the suspected source of bacteraemia, it was subsequently removed and the catheter tip bacterial culture isolated Gram-positive bacilli after 4 days of incubation. Repeat blood cultures after 5 days of antibiotics (1 day post-line removal) were negative.",
"gender": "Female"
}
] |
PMC10323808
|
[
{
"age": 19,
"case_id": "PMC9273775_01",
"case_text": "Both the patient, a 19-year-old male who was previously healthy, and his father had weakness of the left eyelid muscle (Figures 1, 2), although their vision was normal. The patient's mother and sister were in good health. After lifting heavy objects, the patient presented with intermittent distending pain and discomfort in the right inguinal region, he did not pay attention to these symptoms and did not seek medical treatment. As the patient's symptoms worsened, a right inguinal hernia was suspected and diagnosed by the family doctor but was not treated further. 2 days later, there was skin itching in the right inguinal area, accompanied by redness, swelling and discomfort of the right scrotum, and he went to the local hospital again. Ultrasound examination showed that a contusion of the right testis may have been complicated with orchitis (no specific medical data). Rest was recommended. The pain was not relieved by oral levofloxacin but resolved on its own 3 days later; nevertheless, it became aggravated and unbearable after exercise. At the same time, the scrotal swelling had significantly increased. He came to the emergency room of our hospital, where a plain CT scan showed scrotal enlargement of unknown cause. Upon admission, the right scrotum was obviously enlarged and tender. It had a high surface temperature, normal skin color, negative scrotal elevation test, negative light transmission test, normal sex hormones and normal tumor markers (including Alpha-fetoprotein, chorionic gonadotropin, carbohydrate antigen-199, carbohydrate antigen-125, serum ferritin, and carcinoembryonic antigen). After admission, the patient was treated with levofloxacin, but the pain was still not relieved. On the second day after admission, ultrasound showed heterogenous echo of the right testis. Considering the possibility of inflammatory lesions, neither testicular tuberculosis nor a tumor could be ruled out. A plain + enhanced abdominal CT scan suggested that inflammatory lesions of the testis with necrosis were possible. In addition, there were some secondary changes in the spermatic vessels, and the spermatic vessels could be seen more clearly (Figure 3). After communicating with the patient and his family, he gave informed consent for exploration of the right scrotum, which was performed under general anesthesia.\nWe made a right groin incision and cut the skin subcutaneously and each layer of muscle in turn, exposing the spermatic cord. We observed hyperaemia and oedema of the spermatic cord blood vessels and surrounding tissue. We rotated the testis approximately 90 degrees, lifted the testis out of the scrotum, opened the testicular sheath, and observed a small amount of bloody fluid within. We opened the tunica albuginea, where we observed a large amount of bloody fluid and a fish-like tissue bulge. The whole testicular boundary was unclear, the epididymis was enlarged, and the tunica albuginea had a visible tear of approximately 1.5 cm in length (Figure 4). Radical orchiectomy was performed on the right side, the spermatic cord was resected in a high position, and the incision was sutured step by step.\nHaematoxylin-eosin staining (Figure 5). Immunohistochemistry results: Desmin (partly +, Figure 6), SMA (-), MyoD1 (+, Figure 7), Myogenin (+, Figure 8), CD34 (1), STAT-6 (1), S-100 (-), SOX-10 (-), CK (-), EMA (-), TLE1 (-), Ki-67 (80%+, Figure 9). The pathological diagnosis was rhabdomyosarco-ma of the right testis. The postoperative chromosome karyotype analysis showed that there was no Y chromosome microdeletion. Positron emission tomography (PET) examination showed no systemic metabolic abnormalities and no systemic metastasis. These findings suggested that the patient should be treated with a VAC regimen (vincristine, doxorubicin, cyclophosphamide). The patient refused further systemic treatment for personal reasons and is currently under follow-up.",
"gender": "Male"
}
] |
PMC9273775
|
[
{
"age": 58,
"case_id": "PMC4064426_01",
"case_text": "A 58-year-old male presented with abdominal pain, jaundice and vomiting for one month. He also had associated history of weight loss and anorexia with no h/o pruritus and clay colored stool. Clinical examination revealed no abnormality except icterus. The laboratory examination revealed a serum total bilirubin level of 6.7 mg/dL, an aspartate aminotransferase (SGOT) level of 102 IU/L, an alanine aminotransferase (SGPT) level of 92 IU/L and an alkaline phosphatase of 250 U/L. USG abdomen was suggestive of periampullary mass with dilated pancreatico-biliary tree. E.R.C.P. demonstrated large deformed and bulky papilla with ulcerated lesion with infiltration in to duodenum causing 1st and 2nd part of duodenal (D1D2) stenosis. Biopsy revealed squamous cell carcinoma. Metastatic work-up did not reveal any other primary focus of disease. Contrast enhanced computed tomography scan (CECT) of the abdomen revealed a soft-tissue mass in the periampullary region with dilated distal portion of the common bile duct (CBD) and main pancreatic duct.\nE.R.C.P. guided stent inserted in CBD. Liver function tests were repeated till the total serum bilirubin level normalized. Exploratory laparotomy proceeds Whipple's pancreaticoduodenectomy done.\nOn exploration there was a growth at the ampullary region with involvement of CBD leading to grossly dilated CBD and main pancreatic duct. The gross specimen revealed a growth of 4 x 3 cm in the AmV (Fig. 1). Portal vein and superior mesenteric vein and artery were separate from the growth. Histopathological report was of adenosquamous carcinoma of the AmV (Fig. 2). Immunohistochemistry was planned which confirmed adenosquamous carcinoma (Figs. 3 and 4). The postoperative course was uneventful.",
"gender": "Male"
}
] |
PMC4064426
|
[
{
"age": 31,
"case_id": "PMC10415754_01",
"case_text": "A 31-year-old man with a past medical history of intravenous drug use (IVDU), specifically heroin and cocaine, and untreated hepatitis C virus infection presented to the emergency department for the evaluation of chest pain. The patient's chest pain began approximately 5 days prior to presentation as a sharp, non-radiating, persistent pain, which was worse with inspiration and on movement. The pain progressed to 10/10 in intensity below the nipples bilaterally. Our patient endorsed exertional dyspnea mostly because of the inability to inspire without significant pain and subjective fever. He also reported worsening cough productive of light green sputum and, at times, a scant amount of blood. Moreover, approximately a week prior, the patient missed a vein while injecting the drug in the right side of his neck which led to swelling and redness of the area. The remainder of the review of systems was noncontributory. As for his past medical history, our patient reported being informed he was positive for hepatitis C 10 years prior, but he did not seek treatment nor did he follow up with medical providers for the same. The patient has a smoking history of 15 pack years and has been injecting \"speedball\", a mixture of cocaine and heroin, almost daily for the last 10 years. Our patient reported using \"a bundle and a half\" of heroin together with \"few grams\" of cocaine in powder form with water daily. When the patient was not able to acquire cocaine, he used crack which comes in solid \"rock\" form. He reported crushing the rock form and diluting it with vinegar. He heated the mixture after filtering through cotton-wool before injecting himself using a syringe. The patient generally uses his neck and left arm veins to inject drugs. Our patient used the same syringe for up to a month. He reported that, at times, the needle tip would break off in tiny fragments and it would become difficult to acquire access through it. The patient's last use of these drugs was the day of admission. Our patient admitted to being homeless and has been living on the streets for the last 3 years.\nInitial vital signs demonstrated a temperature of 98.7 F, pulse of 135/min, respiratory rate of 19/min and blood pressure of 108/72 mmHg. He appeared to be in mild distress, with poor inspiratory effort due to pain. Physical examination was significant for poor dentition including a few chipped and missing teeth but no oral lesions or thrush. There was an area of erythema, induration and tenderness on the right side of the neck, about 4 x 10cm in size. Lungs were clear to auscultation bilaterally. Cardiac auscultation revealed normal S1 and S2, with no murmurs, rubs or gallops. Examination of the extremities revealed track marks on left antecubital fossa and onychomycosis of the nail beds. Stigmata of bacterial endocarditis were not seen.\nInitial laboratory data was significant for a normal white blood cell (WBC) count of 8.5 K/muL, hemoglobin of 10.2 gm/dL and platelet count of 106 K/muL. The patient's mean corpuscular volume (MCV) was 73.6 fL, with red cell distribution width of 15.3%. Serum sodium was 129 mEq/L, with otherwise unremarkable basic metabolic panel. Serum lactic acid was 1.2 mmol/L (normal 0.5-2.2 mmol/L) and D-dimer was 1197 ng/mL (normal 0-230 ng/mL). Erythrocyte sedimentation rate (ESR) was 95 mm/hr (normal 0-15 mm/hr) and C-reactive protein (CRP) was 15.2 ng/dL (normal <1.0 ng/dL). Urine drug screen was positive for cocaine and opiates but negative for amphetamines. Chest X-ray indicated a patchy increased density in the left lower lobe, lingula, and right middle and lower lobes (Fig. 1). Given a significantly elevated d-dimer in the setting of tachycardia, CT angiography of the chest was performed which excluded pulmonary embolism. However, multiple, fluffy, nodules of varying size and ill-defined margins were seen throughout both lungs (Fig. 2). Some of these nodules were cavitary. Larger coalescent areas were seen in the left lower lobe and the lingula. These findings were concerning for septic emboli or metastatic disease. As a result, CT abdomen and pelvis with contrast was performed which did not show any masses. The only finding was splenomegaly, measuring 18cm in length. Furthermore, given the findings of tenderness on the right side of the neck, CT of the neck with contrast performed to exclude septic jugular vein phlebitis or Lemierre's syndrome was unremarkable.\nMeanwhile, blood cultures were drawn and our patient was empirically administered intravenous (IV) Vancomycin 1 g and Piperacillin-Tazobactam 3.375 g. Emergent transthoracic echocardiogram (TTE) was performed which did not show valvular vegetation or abscess. Given a high suspicion of bacterial endocarditis (BE), trans-esophageal echocardiogram (TEE) was performed which also did not show any vegetations or abscess. Piperacillin-tazobactam was changed to IV Cefepime 2 g every 12 hours. IV Vancomycin was continued to achieve a therapeutic vancomycin trough level. Pulmonology was consulted and, based on the findings on high resolution CT scan of the chest (Fig. 3), the decision was made to perform navigational bronchoscopy to obtain endobronchial and transbronchial lung biopsies. Specimens were obtained from the right lower lobe using a needle biopsy, and near the pleura using the forceps. A few specimens were also obtained using triple needle brush. In addition, specimens from bronchial washings were sent for cytologic analysis, routine cultures, acid-fast bacilli (AFB) culture and fungal culture.\nAdditional diagnostic evaluation included HIV testing, QuantiFeron TB, hepatitis panel, rapid plasma reagin (RPR), antinuclear antibody (ANA), anti-double stranded DNA (DsDNA) antibody, anti-glomerular basement membrane (GBM) antibody, anti-neutrophil cytoplasmic antibody (ANCA) and complement levels. Results were unremarkable.\nHistopathology report of right lower lobe biopsy specimen was normal with no mononuclear infiltration. A brush tip specimen was also obtained from right lower lobe. Moreover, approximately 55 cc of thick pale orange fluid was obtained via bronchial wash of right lower lobe which showed scattered refractile material surrounded by dense neutrophilic and mononuclear infiltration (Fig. 4, Fig. 5). Gomori methenamine silver (GMS) stain for Pneumocystis jirovecii was negative.\nThe patient's maximum temperature was 100.1 F five days after the admission on antibiotics. The patient's heart rate normalized to 70-90/min and WBC count remained in between 6 and 8 K/muL throughout admission. The patient's chest pain improved over the course of days but mild discomfort with breathing persisted. Blood, respiratory and bronchial wash cultures for bacteria, AFB and fungi remained negative. Because of ongoing concern for bacterial septic emboli, the patient was continued on IV Vancomycin and IV Cefepime for a total of 6 weeks. The patient completed the final 3 weeks of antibiotics at a sub-acute facility.",
"gender": "Male"
}
] |
PMC10415754
|
[
{
"age": 32,
"case_id": "PMC4980514_01",
"case_text": "A 32-year-old female patient visited the Department of Dentomaxillofacial Radiology, complaining of pain in the right mandibular second premolar tooth. After intraoral examination, panoramic radiography showed an ectopic premolar located in the left mandibular ramus (Figure 1).\nTo identify the exact location of the tooth, Cone Beam Computed Tomography (CBCT) was taken, showing the premolar in the mandibular sigmoid notch in a vertical position (Figures 2(a) and 2(b)).\nSurgical treatment was not seen as necessary for this patient because there were no symptoms related to the ectopic tooth. The patient was informed of the ectopic tooth and directed to clinical endodontics.",
"gender": "Female"
}
] |
PMC4980514
|
[
{
"age": 63,
"case_id": "PMC3683444_01",
"case_text": "A 63-year-old male with history of untreated Chronic hepatitis C and alcohol abuse was admitted to the Internal Medicine Department with 4-day history of nausea, diffuse abdominal pain, and jaundice. On physical exam he was jaundiced with scleral icterus. The abdomen was diffusely tender with guarding. Laboratory data revealed total bilirubin 16.9 mg/dL (normal: <1.0), Alkaline phosphatase 243 IU/L, aspartate transaminase (AST) 97 IU/L (normal: <35), alanine transaminase (ALT) 69 IU/L (normal: <35), alpha fetal protein: 3.0 IU/mL, lactate dehydrogenase (LDH) 267 IU/L, albumin 2.7 g/dL (normal: 3.2-4.6), total protein 5.7 g/dL (normal: 6.4-8.3), blood urea nitrogen (BUN) 14 mg/dL (normal: 8-23), creatinine 0.85 mg/dL (normal: 0.80-1.30). CBC showed white cell count (WBC): 6.3 K/muL (normal: 5-10.2), hemoglobin 13.7 g/dL (normal: 13.5-17.5), and platelet 117 K/muL (normal: 150-450). Liver ultrasound showed a mass-like structure around gallbladder fossa, and common bile duct (CBD) diameter was 6 mm. Computed tomography (CT) of the abdomen and pelvis showed a large irregular mass at the porta hepatis. Magnetic resonance cholangiopancreatography (MRCP) revealed 5.5 x 5.4 x 4.9 cm mass and biliary ductal dilatation from extrinsic compression (Figure 1). Pathology of fine needle biopsy of mass (Figure 2) showed diffuse large B cell lymphoma, positive for CD20, BCL2, BCL6, CD79a, and PAX5 and negative for CD3, CD5, CD10, CD23, CD138, cyclin D1, CK7, CK20, and p63. Positron emission tomography (PET) scan showed multiple liver lesions and right lower lung nodule, without involvement of mediastinal lymph nodes or peritoneum. Bone marrow biopsy was negative for lymphoma. Endoscopic retrograde cholangiography (ERC) was performed for biliary decompression but CBD could not be cannulated, and limited cholangiogram showed distal CBD stricture. Percutaneous transhepatic cholangiography (PTC) was performed with successful internal and external biliary drain placement (Figure 3). His ECOG (Eastern Cooperative Oncology Group) score was 3 and chemotherapy was planned. After few days he was readmitted with acute renal failure (BUN/Cr: 100/4.1), WBC 25.1 K/muL, total bilirubin 6.4 mg/dL, intractable nausea and vomiting, and hypotension with multiorgan failure. He was found to be in septic shock. The patient died even before starting chemotherapy.",
"gender": "Male"
},
{
"age": 80,
"case_id": "PMC3683444_02",
"case_text": "A-80-year-old nursing home female resident was admitted to internal medicine service with diffuse abdominal pain of 2-3 days duration, poor oral intake, nausea, and dark urine. PMHx was significant for dementia, hypertension, and hypothyroidism. She had cholecystectomy done at 55 years of age. She did not have history of tobacco or alcohol abuse. Physical examination revealed conjunctival icterus, confusion, tenderness in right upper quadrant, and epigastrium. No lymphadenopathy or hepatosplenomegaly was appreciated. Initial laboratory data revealed total bilirubin 12.0 mg/dL, alk phos 659 IU/L, AST 112 IU/L, ALT 86 IU/L, ammonia 35 mumol/L, LDH 650 IU/L, BUN 10 mg/dL, creatinine 0.68 mg/dL, sodium 130 mmol/L, chloride 98 mmol/L, albumin 2.4 g/dL, total protein 6.4 g/dL, prothrombin time 12.7 sec, INR 1.1, partial thromboplastin time 31 sec, and WBC 15 K/muL. Viral hepatitis panel, alpha-fetoprotein, and carcinoembryonic antigen were negative. CT abdomen was done revealing infiltrating liver mass involving the portal confluence with intrahepatic biliary dilatation, lesion in spleen, and absence of lymphadenopathy (Figure 4). The patient underwent percutaneous cholangiogram showing marked narrowing of biliary tree and unsuccessful attempt to insert drain. She underwent endoscopic retrograde cholangiopancreatography (ERCP) which showed distal common bile duct stricture secondary to extrinsic compression with dilated CBD up to 15 mm and intrahepatic ductal dilation. Biliary sphincterotomy was performed and plastic stent was placed for biliary decompression. CT guided liver mass core biopsy (Figure 5) reported diffuse large B cell lymphoma with stains positive for CD20 and CD79a and negative for CD10, cyclin D1, CD138, cytokeratin AE1/AE3, and S 100 protein. Her ECOG score was 4. Chemotherapy was not given because of patient's poor general condition. Patient's family decided to make her comfortable under hospice care and she succumbed within 3 months of diagnosis.",
"gender": "Female"
}
] |
PMC3683444
|
[
{
"age": 20,
"case_id": "PMC5846908_01",
"case_text": "A 20-year old male patient with genetically confirmed DMD with known associated dilated cardiomyopathy was transferred to our supraregional stroke unit due to a wake-up stroke with severe right-sided sensomotoric hemiparesis and aphasia as he was right-hand dominant. Due to status post detection of a thrombus in the left ventricle in August 2015, the patient was on an anticoagulation regime with low molecular weight heparin (LMWH), which was interrupted in error because of a misapprehension the day before. In addition to LMWH, the patient was treated with bisoprolol, magnesium and vitamin D. A moderate- to high-grade hypotonic tetraparesis due to the DMD-related muscle weakness was already known. The acute presentation of the patient was due to a substantial worsening of the preexisting weakness on the right side, including a new facial weakness and aphasia, resulting in a formal NIHSS score of 20 points. The time at which the new symptoms were recognized was 08:15; last-seen-normal (LSN) was about 03:00. Initially the patient was brought by paramedics to the pediatric hospital at which he is best known. An immediate transfer to our department was performed, and the patient arrived at 08:56 in our emergency room.\nVital parameters were stable, the international normalized ratio was 0.9 measured by CoaguChek (Roche Diagnostics) in the emergency room. Cerebral CT scan revealed only slight early ischemic changes in the LMCA territory (ASPECT-Score = 8 points) but with hyperdense media sign on the left (Figure 1(a)). Subsequent CT angiography confirmed a proximal occlusion of the LMCA (Figure 1(b)).\nPatient education took place, including the patient's mother as his legally authorized representative, so MT started quickly at 09:23 (door-to-groin time = 27 min). Considering the specific risks of general anesthesia in DMD, the procedure was performed with propofol, remifentanil and rocuronium. At 24 min after groin puncture, the recanalization was successfully completed (TICI grade 3) by direct thrombus aspiration using the Penumbra System (Penumbra Inc. Alameda, CA, USA). Since the patient formally exceeded even the extended time window of 6 h after LSN, no additional IV thrombolysis was performed.\nShortly after successful recanalization (Figure 1(c-d)) and directly after recovering from anesthesia, the half-sided motoric worsening of the preexisting hypotonic tetraparesis improved, but the aphasia persisted to a reduced extent (NIHSS score of 14 points). With logopedic speech therapy, the aphasia resolved almost completely in the further course of his hospitalization. The daily NIHSS score showed an improvement up to 12 points within 9 days.\nTransthoracic and transesophageal echocardiography revealed no evidence of an intracardial thrombus, but a relevant reduced ejection fraction. No atrial fibrillation was detectable via prolonged ECG monitoring. Laboratory investigations found high creatine kinase at 1883 U/L (38-174), high lactate dehydrogenase at 321 U/L (135-225) and a high creatine kinase-muscle/brain at 144.5 U/L (<24). Due to the low muscle mass, creatinine serum level was extremely low at 0.25 mg/dl (0.70-0.12), so it could not serve as a reliable kidney retention parameter in this case. Consequently, we determined the kidney function via cystatin C, where a concentration of 1.10 mg/L (0.61-0.95) with a resulting glomerular filtration rate of 83 ml/min (>=90 ml/min) was shown. Further hemostaseological investigations revealed no thrombophilia.\nFollow-up CT scans revealed a demarcation of the ischemia in the left area of the basal ganglia with a mild edema (Figure 1(e-f)). After discussing the specific considerations of indicated anticoagulation with the patient and his mother, oral anticoagulation with dabigatran (150 mg bid) was initiated for secondary prophylaxis.\nAt discharge from our stroke unit and transfer to a rehabilitation center after 9 days of hospitalization, the patient showed a complete recovery from the ischemia-induced central hemiparesis. Only a slight aphasic component was present, resulting to an NIHSS score of 12 points at discharge, which was mainly due to his preexisting DMD symptoms.",
"gender": "Male"
}
] |
PMC5846908
|
[
{
"age": 83,
"case_id": "PMC10228719_01",
"case_text": "An 83-year-old male patient had no family history of hypertension, chronic obstructive pulmonary disease, or malignancy. He smoked for 40 years and had a smoking index of 20 pack-years. He was admitted to the hospital for a physical examination, during which a chest computed tomography (CT) scan revealed a left hilar occupancy measuring approximately 5.9x3.6 cm, obstructive atelectasis in the left lung field, and a small pleural effusion. Further fiberoptic bronchoscopy revealed that the left main bronchus was blocked by new organisms, the surfaces of which oozed blood. This location was the site of the biopsy, which revealed lung squamous cell carcinoma ( Figure 1A ). P40 (+), CK56 (-), ki-67 > 25%, TTF-1 (-) ( Figures 1B-F ) in immunohistochemistry. The patient ceased chemotherapy because he could not endure the adverse effects of nausea and vomiting after one cycle of perfusion chemotherapy (40 mg nedaplatin via bronchial artery infusion administration) and paclitaxel systemic intravenous treatment. After 7 months, the patient developed hemoptysis with a daily volume of about 10-20 mL, and chest CT scan revealed a left deviation of the mediastinum, left lung consolidation and atelectasis, a soft tissue mass in the left hilum with a size of about 8.1x4.6 cm, left main bronchial obstruction, and enlarged lymph nodes in the left cervical root and mediastinum. No obvious metastatic lesions had been found after head MRI, whole-body bone imaging, whole-abdomen enhancement CT. We took the disease's progression into consideration (Clinical Stage, cT4N3M1a, stage IVA). Subsequently, the BRCA2 EXON15 G25085 mutation was detected by blood next-generation sequencing, and the tumor mutation load TMB was 5.98 mutations/Mb. Based on the sequencing test results, we immediately started aggressive treatment and decided to use the PARP inhibitor Olaparib (300mg twice a day) with the PD-1 inhibitor Cindilimab. After one week, the patient's hemoptysis stopped. A repeat chest CT revealed that the left hilar mass was substantially smaller than before, with a long diameter of around 4.5 cm, and that the left lung was recruiting and the pleural effusion was absorbed after receiving Olaparib for two months and PD-1 inhibitor for two immunotherapy sessions. At this time, the patient appeared new symptoms, puffy eyelids, decreased urine volume, and generalized weakness. In further testing of common serological indicators, we found that blood creatinine increased from normal value at the beginning of the disease to 163.90mumol/L. Meanwhile, urine precipitation microscopy showed urine protein (+) without a tubular pattern. Routine blood, liver function, inflammation indicators, tumor indicators were normal, and autoantibodies were negative. Following the multidisciplinary team's discussion, we took into account the kidney damage caused by immune checkpoint inhibitors, which was graded as 2, and stopped using the PD-1 inhibitor in accordance with the Chinese Society of Clinical Oncology (CSCO) 2022 recommendation. One month after quitting the PD-1 inhibitor, the serum creatinine level was back to normal. Six months after starting Olaparib monotherapy, the patient was more advanced. The therapy options, disease response, and PFS for each treatment line are summarized in Figure 2 .",
"gender": "Male"
}
] |
PMC10228719
|
[
{
"age": 67,
"case_id": "PMC9641636_01",
"case_text": "A 67-year-old female patient was admitted to the local hospital because of epigastric pain and discomfort for one month. She was diagnosed as a malignant tumor of the gastric body by electronic gastroscopy and biopsy pathology. The abdominal enhanced CT shows multiple lymph nodes enlargement in the abdominal and retroperitoneum in the outpatient clinic of our hospital ( Figures 1A, B ). The patient received six cycles of chemotherapy in another hospital (SOX regimen for 1 cycle; S-1 and oxaliplatin. Paclitaxel, oxaliplatin, S-1, and Sintilimab for 5 cycles). After the end of chemotherapy, the effect of chmotherapy was evaluated as partial remission (PR). The patient asked for surgical treatment in our hospital. Physical examination showed that the abdomen was flat, the abdominal muscles were soft, the upper abdomen was mild deep tenderness, there was no rebound pain, and there was no obvious abdominal mass. Laboratory results showed that hemoglobin content decreased: 97g/L (normal range 110-150g/L). CA72-4:4.90U/mL (normal range 0-6.9U/mL), AFP: 1.30ng/mL (normal range 0-8.1ng/mL), CEA:1.13ng/mL (normal range 0-10ng/mL), CA199:17.71U/mL (normal range 0-37U/mL), CA125:2.85U/mL (normal range 0-30.2U/mL). There was no significant increase in serum tumor markers. After the end of neoadjuvant chemotherapy, we performed a PET-CT examination for the patient. 18F-FDG PET-CT showed that the mass showed changes after chemotherapy, slight thickening of the lesser curvature of the stomach, the mass did not significantly absorb FDG, and it was found that the left axillary lymph node was enlarged, and the mass uptake of FDG increased slightly, but it was considered as an inflammatory lesion ( Figures 1C ). After multidisciplinary tumor consultation, we decided to perform the radical total gastrectomy on the patient, and regular examination of the enlarged lymph nodes in the left axilla. After obtaining the consent of the patient and her family, the patient underwent radical total gastrectomy (Roux-en-Y digestive tract reconstruction) in August 2021. Postoperative pathology showed that the area of ulcerative gastric cancer was about 4 x 3cm. The main tumor cells were poorly differentiated adenocarcinoma, local invasion of the deep muscular layer of the gastric wall, and tumor cells can be seen in the lymphatic vessels but no definite nerve invasion. Lauren's classification was the diffuse type ( Figure 2A ). Only one of the 21 lymph nodes had metastasis, which was located on the lesser curvature of the gastric wall, and no obvious tumor metastasis was found in the rest of the lymph nodes (ypT2N1M0 IIA). Immunohistochemical staining showed that tumor cells expressed CK8/18, individual cells expressed Syn, and did not express CgA, CD56, SALL4, Oct3/4, C-erb-B-2, and Ki-67 proliferative index was approximately 90%. The patient recovered smoothly without obvious postoperative complications and was discharged 13 days after radical total gastrectomy.\nOne month after radical total gastrectomy, the patient found that the left axillary mass grew faster than before and was accompanied by the limitation of left upper limb movement. Physical examination showed that the left axillary mass was about 4 x 2cm in size, hard, had an unclear boundary, and had a poor range of motion. Ultrasound examination of the bilateral breast and axilla showed that there was no obvious mass in the bilateral breast, and several hypoechoic lesions were found in the left axilla, the size of which was about 4.3 x 1.9cm, the boundary was clear, the cortex was thickened, the medulla was eccentric and the blood flow signal was abundant ( Figure 3A ). No obvious abnormality was found in mammary gland molybdenum target X-ray ( Figures 3B, C ), mediastinal and supraclavicular enlarged lymph nodes were not found in CT, and no obvious bone metastasis in whole-body bone scintigraphy ( Figure 3D ). The patient underwent the axillary lymph node biopsy in October 2021. During the operation, the enlarged lymph nodes were located next to the axillary vein, fused into clumps, hard texture, and closely combined with the surrounding tissues. Intraoperative frozen sections showed that there were 5 lymph nodes in the left axilla, and all of them had cancer metastasis. After that, we performed radical axillary lymph node dissection and 14 of the 18 lymph nodes had metastases. Pathology showed that the tumor cells were poorly differentiated adenocarcinoma. immunohistochemical staining showed that most of the tumor cells expressed Caudal-type homeobox 2 (CDX2), CK20, GATA binding protein 3 (GATA-3), and a small amount of sequence-binding protein (SATB) 2 and Mucin-5AC (MUC5AC), but no expression of CK7 and TTF-1 was found ( Figures 2B-E ). After communicating with pathologists, considering the immunohistochemical results and the history of gastric cancer, we considered that the left axillary lymph node tumor was metastasized by gastric cancer.\nThe patient received docetaxel and fluorouracil chemotherapy after radical axillary lymph node dissection, and a progressive increase in CEA, CA19-9, and CA72-4 was found ( Figure 4 ). Three months after the second operation, the MR examination of cervical and thoracic vertebrae due to back pain revealed secondary malignant tumors of the spine, but the patient refused to undergo whole-body bone imaging. CT of the chest and abdomen showed double clavicular and mediastinal enlarged lymph nodes, considering the malignant tumor. But the patient refused any treatment and died 11 months after the second operation.",
"gender": "Female"
}
] |
PMC9641636
|
[
{
"age": 41,
"case_id": "PMC9512840_01",
"case_text": "A 41-year-old woman presents to a small rural hospital emergency department at 03:00, with the abrupt onset of severe acute epigastric pain. The pain is constant; it does not radiate outside of the mid-upper abdomen. The patient is pregnant, at 35 weeks gestation, with normal prenatal examination and blood pressure each visit through 34 weeks, and this is three days after the last prenatal examination. The patient has a past medical history of asthma, a remote appendectomy, a left oophorectomy for a cyst, a pre-term vaginal delivery at 34 weeks gestation 21 years ago, and no history of hypertension. Her asthma is quiescent, not requiring medication.",
"gender": "Female"
}
] |
PMC9512840
|
[
{
"age": 0,
"case_id": "PMC10182372_01",
"case_text": "Patient information: a 23-month-old female child had been diagnosed to have a moderate-sized PmVSD at four months of age.\nClinical findings: she presented with fast, laboured breathing and poor growth and a history of three previous episodes of chest infections. She had also been delivered at a birth weight of 1.05 kg on account of a twin-twin transfusion.\nTimeline of the current episode: she had presented a year earlier at 11 months of age for pre-surgical evaluation for a moderate-sized PmVSD and had been receiving oral diuretics since diagnosis. Dietary counsel was given, medications optimized, and parents were counselled for early closure of the VSD. She presented for the procedure a year after, and parents were counselled regarding the benefits and risks of transcatheter closure as compared to the surgical option and the family opted for the former. A written and signed informed consent was obtained.\nDiagnostic assessment: physical examination revealed no evidence of dysmorphism, no obvious respiratory distress, cyanosis or peripheral oedema. She weighed 10.0 kg which was 85% of her expected weight. The pulse rate was 116 bpm and pulses were normal volume, regular, synchronous, and well felt in all peripheries. Her precordium was active with the apex beat localised to the fourth left intercostal space lateral to the midclavicular line. Blood pressure was 100/49mmHg (90th centile for both systolic and diastolic pressures) and first and second heart sounds were normal with a grade 3/6 pan systolic murmur at the mid left sternal border. Oxygen saturation by pulse oximetry was 98% in room air, respiratory rate was 48 per minute and breath sounds were vesicular. She had a soft, smooth, non-tender hepatomegaly, 4cm below the right costal margin and no other abdominal organ was palpably enlarged.\nDiagnosis: electrocardiography revealed sinus rhythm with a heart rate of 112 bpm, QRS axis of +300, predominant left ventricular forces and an incomplete right bundle branch block. Echocardiography showed a 7mm perimembranous ventricular septal defect partially restricted by the tricuspid valve septal leaflet aneurysm, shunting left to right (Figure 1). The peak interventricular pressure gradient was 80mmHg and the left atrium, left ventricle and pulmonary arteries were dilated with good biventricular function.\nTherapeutic interventions: the child underwent successful transcatheter VSD device closure with a 0608 Lifetech CeraTM duct occluder (Lifetech Scientific Corporation, Shenzhen, China) under general anaesthesia using a laryngeal mask airway. Both arterial and venous femoral accesses were obtained, and 100 units/kg of intravenous heparin was administered. The intravenous antibiotic was administered as per the institution's protocol. Pre-procedure transthoracic echocardiography (TTE) showed a PmVSD measuring 7.0mm and was restricted to 4.0mm by the tricuspid septal leaflet aneurysm. A left ventriculogram done in left anterior oblique (LAO) 400 cranial 200 view using a 5Fr pigtail catheter confirmed the echocardiography findings (Figure 2). The VSD was crossed retrograde from the aorta with a 5F Judkins Right catheter and 0.035\" 260cm Terumo wire combination and the wire manoeuvred into the superior vena cava and then the innominate vein. It was then snared using a 4F 10mm LifetechTM snare catheter (Lifetech Scientific Corporation, Shenzhen, China) and exteriorised from the right femoral vein forming an arteriovenous (AV) loop. The femoral venous short sheath was exchanged for a 6F Steer Ease introducer sheath (Lifetech Scientific Corporation, Shenzhen, China) which was passed antegrade over the venous limb of the AV loop and the sheath tip placed in the left ventricle. The duct occluder device was prepared, loaded in the delivery sheath, and deployed across the PmVSD under fluoroscopic and TTE guidance and released (Figure 3). The procedure time was 77 minutes and the fluoroscopy time was 24.3 minutes.\nFollow-up and outcome of interventions: there were no procedural complications. Post-deployment TTE showed the device in a stable position with no residual shunt and no aortic valve regurgitation (Figure 4). Post-procedure electrocardiography showed normal sinus rhythm. The child was discharged 24 hours after the procedure in good health. Oral Aspirin 5mg/kg was prescribed for 6 months. By the third month following the procedure, activity had significantly improved, and she had gained 1.0 kg. She has been seen severally on follow-up; the last being two years post-intervention and has no complications.\nPatient perspective: \"we are happy that our child can now live a normal life after this procedure\". The parents expressed profound gratitude to the entire health team and were grateful to have had the benefit of state-of-the-art cardiovascular care in the country.\nInformed consent: written and informed signed consent to publish de-identified data of the child was obtained from both parents.",
"gender": "Female"
}
] |
PMC10182372
|
[
{
"age": 45,
"case_id": "PMC9282702_01",
"case_text": "A 45-year-old male presented with asymptomatic penile growths of 8-month duration. He first noticed it as a small elevated keratotic growth post circumcision, which was done for preexisting phimosis 10 months back. The lesions had been gradually increasing in size and number. There was no history of preceding trauma or any systemic disease. He gave no history of exposure to the risk of sexually transmitted disease. Prior treatment included the use of topical antibiotic cream without any improvement in symptoms. Clinical examination showed multiple bark-like, hard, yellowish horny masses over the glans penis sparing the urethral meatus [Figure 1]. Lesions were confined to the glans penis, whereas examination of the penile shaft and scrotum was normal. Inguinal lymph nodes were not palpable. The patient's serology was negative for HIV, syphilis, and hepatitis B and C viruses. Routine laboratory investigations which comprised basic blood counts, levels of blood glucose, and tests for renal and liver function showed normal values. Based on these findings, excisional biopsy of the lesion was performed heeding toward a diagnosis of PKMB. Histopathology of the lesion revealed pseudoepitheliomatous hyperplasia with extensive hyperkeratosis, parakeratosis, acanthosis, individual cell keratinization, and atypical cells. Dermis showed dense lymphoplasmacytic inflammatory infiltrate [Figure 2a and b]. A final diagnosis of PKMB evolving to squamous cell carcinoma of the glans penis was made, and the lesions were surgically excised with wide margins.",
"gender": "Male"
}
] |
PMC9282702
|
[
{
"age": 50,
"case_id": "PMC7439188_01",
"case_text": "A 50-year-old gentleman, resident of a slum area in the outskirts of New Delhi, presented to surgery emergency with complaints of diffuse abdominal pain for 5 days, obstipation for 2 days, and abdominal distension for 1 day. There was a history of recurrent episodes of loose stools mixed with mucous and blood associated with intermittent crampy lower abdominal pain for the past 7 days. The patient was a chronic alcoholic and a known case of diabetes mellitus. On examination, the patient was dehydrated, pulse rate was 120/min, and blood pressure was 90/60 mmHg, and was maintaining a saturation of 98% on room air. The abdomen was grossly distended and tenderness was present all over. Rectal examination done later revealed distended rectum and examining finger was tinged with blood and foul-smelling mucous.\nThe patient was resuscitated with intravenous fluids following which he improved to BP 100/72 mm Hg, PR 102/min, RR 17/min, and urine output of 200 ml over 4 hours. After stabilization, the patient was shifted for chest and abdominal X-ray, which showed gas under the diaphragm (Figure 1). ABG analysis showed mild metabolic acidosis which got corrected with fluid resuscitation. Hemoglobin was 8.2 gm%, total leucocyte counts were 24000/mm3, blood urea was 72 mg/dl, and serum creatinine was 1.8 mg/dl. Serum electrolytes and coagulation profile were within the normal range. (Na 136 mEq/L, K 4.2 mEq/L, INR 1.2).\nThe patient was started on ceftriaxone and metronidazole as per our institutional protocol and amikacin was added after one day when KFTs became normal. The patient was taken up for emergency laparotomy. Approximately 1000 ml of feculent pyoperitoneum was present. The caecum was found to be gangrenous and had sloughed off (Figure 2) and there were multiple perforations in the ascending colon and transverse colon. Initially, right hemicolectomy was done but the resected end of the transverse colon showed multiple sloughed off ulcers in the mucosa with transmural involvement. The proximal sigmoid colon was also found to be perforated into the retroperitoneum. There was no evidence of thrombosis of mesenteric vessels. In view of intraoperative findings, the procedure was converted into subtotal colectomy with proximal ileostomy and exteriorization of the distal end of the sigmoid colon.\nGross examination of the resected colectomy specimen showed sloughed off caecum with multiple perforations in the ascending, transverse, and descending colon (Figure 3). On cut section examination, there were patchy segments of extensive transmural necrosis with multiple defects ranging from 0.5-2 cm throughout the large bowel (Figure 4). Histopathological examination of the specimen showed findings of multiple mucosal ulcerations with liquefactive necrosis with normal intervening mucosa, associated with full-thickness perforations and extensive diffuse transmural inflammation. The ulcers were typically flask-shaped, with a narrow neck and broad, undermined base. In the colon, there was no evidence of architectural distortion or any evidence of crypt destructive colitis or granulomas to support the presence of Crohn's disease. The colonic mucosal ulcers were covered with neutrophilic debris within which E. histolytica were identified (Figure 5). Pathogenic Entamoebae trophozoites were recognized by the presence of phagocytosed ingested intracellular red cells. Periodic acid-Schiff staining was positive (Figure 6). Amoebic serology was positive with high IgM antibody titers (2.24) <0.04.\nThe patient had an uneventful recovery and was discharged on day 8 and was continued on oral metronidazole for 2 weeks and the luminal amoebicidal agent, diloxanide furoate, for 10 days. The patient underwent surgery for restoration of continuity of the bowel after 3 months and ileorectal anastomosis was done. The patient was healthy and symptom-free up to 2 months of follow-up in OPD.",
"gender": "Male"
}
] |
PMC7439188
|
[
{
"age": 82,
"case_id": "PMC5773468_01",
"case_text": "82 years old male, hypertensive, admitted for sudden onset of thoracic pain. A contrast-enhanced computed tomography (CT) showed an aneurysm of the ascending aorta complicated by type A IMH, an ulcer-like projection (ULP) and pericardial effusion (Fig. 1A, B). The patient was promptly addressed to surgery.\nDuring HCA no intimal flap was evident, a fresh IMH placed 4 cm above the non-coronary sinus was evacuated and 2 cm transverse shaped intimal tear was identified (Fig. 1C). Hemiarch procedure associated with root replacement, using two-grafts techniques, was performed. The postoperative course was uneventfully and the patient was discharged home on 10th postoperative day (POD).",
"gender": "Male"
},
{
"age": 78,
"case_id": "PMC5773468_02",
"case_text": "78 years old female, hypertensive, referred to us with CT diagnosis of aneurysm of the ascending aorta complicated by type A IMH. The CT images showed the presence of an ULP in the ascending aorta 1 cm below the origin of brachiocephalic artery (Fig. 2A, B).\nDuring HCA hematoma was evacuated, no intimal flap was detected and 1.5 cm linear shaped intimal tear was identified 1 cm below the origin of brachiocephalic artery (Fig. 2C). Hemiarch procedure associated to root replacement using two-grafts technique was performed; the postoperative course was uneventfully and the patient was discharged home on 13th POD.\nThe two patients have been followed for the last three years, with a CT scan and an echocardiogram every six months for the first year, and every year in the next two years. No progression of the lesions were observed.",
"gender": "Female"
}
] |
PMC5773468
|
[
{
"age": 43,
"case_id": "PMC9328801_01",
"case_text": "A 43-year-old Chinese man was admitted to the hospital because of acute abdominal pain. He had no history of trauma, was in good health, and had been an intermittent alcohol user for about 20 years. Physical examination revealed no palpable mass or tenderness in the right upper abdomen. Blood routine showed that Hemoglobin was 142g/L.Alanine aminotransferase(502.6/U/L)and aspartate aminotransferase(527.9/U/L)were significantly increased. Blood coagulation tests and tumor-marker levels were normal. Abdominal enhanced computed tomography (CT) showed a round, approximately8.0cmx8.0cm mass with a slightly blurred border in the right lobe of the liver, and blood around the liver. A tumor hemorrhage was suspected ( Figure 1 ) and as continued bleeding could not be ruled out, the patient underwent hepatic arteriographic embolization in the emergency department. Intraoperative angiographic findings the tumor was stained in irregular mass, with irregular outer border and widened perihepatic shadow. During the operation, lipiodol and gelatin sponge particles were used to embolize the responsible blood supply artery of the tumor. Re-imaging after embolization showed that the imaging of tumor supplying arteries was significantly reduced, the tumor staining range was significantly reduced, and the embolic agent was well deposited and the patient's condition improved after 2 weeks of conservative treatment. After preoperative and intraoperative evaluation, the patient underwent right hemihepatectomy. Intraoperative exploration revealed that most of the tumor was located in segment VII and VIII, and a small part was located in segment V, adjacent to the right hepatic artery. Tumor size is about 8.0cmx8.0cm cm with an incomplete capsule, the boundary was clear, and an old blood accumulation was seen around the liver. The resected tumor was round, with clear boundaries and contained a hematoma. Pathologic examination of hematoxylin-eosin-stained tissue showed hepatocyte proliferation and vasodilation, and no atypical hyperplasia ( Figures 2 ). Immunohistochemistry showed focally positive CK19 and CD34 cells consistent with capillary formation ( Figures 3 ). The pathological features resulted in a final diagnosis of FNH with spontaneous rupture and bleeding. The patient recovered uneventfully and remains asymptomatic for 2 years. Figure 4 , 5 , 6",
"gender": "Male"
}
] |
PMC9328801
|
[
{
"age": 16,
"case_id": "PMC3615933_01",
"case_text": "A 16-year-old female patient visited to our general internal medicine department due to asthenia, tiredness and nausea. She had been vomiting for the past 2 weeks. The patient had a history of nephrolithiasis, with dryness of mouth and eyes, frequent parotitis attacks and arthralgias since childhood, and the patient had once gone to hospital for amenorrhea. Her family history was unremarkable. Physical examination revealed general state medium, conscious, cooperative and oriented. There were conjunctival hyperemia and dryness of tongue. The patient could only sit with support. Although there was no neurologic deficit presenting ancillary symptoms, the muscle force of the patient was 3/5 in extremes, her deep tendon reflexes were decreased, her plantar reflex was casual, and there was bi-lateral horizontal nystagmus; these were evaluated as quadruple paralysis. The patient's blood pressure was 90/60 mmHg and peak heart rate was 55/min. Other systematic examination results were unremarkable. Immediate examination results are shown in Table 1. In her EKG, sinus bradycardia was (ventricular speed: 52/min.), urine alkaline (Ph: 7) and density was 1005. Routine examination made after immediate treatment are shown in Table 2. In other examinations, creatinine clearance was 60.69 ml/hr; 24-hr urine protein was 148.5 mg/day; urine electrolyte level; K: 52.97 mmol/day (25-125), Na 147.20 mmol/day (40-220), phosphorous: 126 mg/day (400-300). Plasma cortisol level was 19.7 mug/dl (5-25); and free T3, free T4 and thyroid stimulant hormone levels were all within normal values. 25-OH vit D: 7.6 ng/mL (10-50) FANA 1/640 + were found. C3, C4 levels were rather low. Anti ENA SS-A: : >100 IU/ml (n<15), anti ENA SS-B: >100 IU/ml (n<15) values were high. Hepatitis markers were negative. In abdominal US, right kidney had normal localization, normal size, and left kidney had grade 3 pelvic ectasia. It was unremarkable except for an 8 mm radius calculus in the lower pole. In urological consultation, hydronephrosis was deemed to be present due to formerly expelled kidney stones. Schirmer test was made in case of a Sjogren syndrome, 5 mm in the right eye, 8 mm in the left eye was detected and in eye consultation, intensely dry eyes and chronic conjunctivitis were observed; thus, symptomatic treatment was suggested. In examination made due to suspected growth retardation, bone age was congruent with age 14. In the cytogenetic analysis result of the patient with primary amenorrhea, 46 XX karyotype was detected. The values were somatomedin-C: 423ng/ml (226-903 for age 16), LH: 1.91 mIU/ml, FSH: 5.17 mIU/ml, Estradiol: 46.89 pg/ml (6-27); and growth retardation was attributed to the chronic disease. Echocardiography: left ventricular systolic function was normal. Salivary gland biopsy: periductal mononuclear cellular infiltration and focal destruction were detected on 2 areas in minor salivary glands.\nAs K 1.63 and quadruple paralysis were detected in the immediate examinations of the patient, her first response was made due to hypopotassemic periodic paralysis and parenteral alkaline treatment, and potassium replacement was carried out. There was no change in urinary PH following the ammonium chloride application. Upon taking the results of medical history record, physical and laboratory examinations, the patient was diagnosed to have primary SS and thus RTA and hypopotassemic periodic paralysis. In nephrology consultation of the patient, it was decided that a biopsy would not be performed, as the patient had hydronephrosis. Parenteral alkaline treatment and potassium replacement were applied, and muscle force returned to normal on the second day of the patient's admission. She was discharged following potassium replacement and 400 mg/day hydroxychloroquine therapy to be monitored by the polyclinic. Check-out laboratory values were Na: 143 mEq/L, K: 3.85 mEq/L, Cl: 109 mEq/L.",
"gender": "Female"
}
] |
PMC3615933
|
[
{
"age": 22,
"case_id": "PMC7481816_01",
"case_text": "The patient was a 63-yesr-old Japanese man. He smoked 14 cigarettes a day from the age of 22-45, and alcohol daily. He complained of fatigue and weight loss, and had lost 5 kg in weight over the previous 2 months. His condition had gradually deteriorated over the 2 months. It had difficult for him to move as usual, but he had no obvious neurological disorder. On initial consultation he was suspected to have a serious underlying disease, and was referred to our hospital.",
"gender": "Male"
},
{
"age": null,
"case_id": "PMC7481816_02",
"case_text": "He was admitted to the department of hematology in our hospital and he had severe pancytopenia was detected. He had no respiratory symptoms and his X-ray showed no abnormal shadows. He had mild fever and reported appetite loss. He weighed 60 kg, height was 175 cm tall, the patient looked pale, and did not have congestion or butterfly shaped erythema. Blood pressure was 92/59 mmHg, heart rate was 78/min, and temperature was 37.5 C. Physical examination showed no rales, no abnormal cardiac sound. There was no lymphadenopathy. He had no clubbing and no edema of his extremities.\nBone marrow biopsy revealed non-caseating epithelioid granulomas in the bone marrow structure. Malignant tumor, tuberculosis and fungal infections were excluded by histological findings and mycobacterial examinations. High levels of angiotensin-converting enzyme (ACE) and lysozyme suggested sarcoidosis and he was transferred to our respiratory department. His medical history included cerebral infarction, aortic valve stenosis, internal carotid artery stenosis, overactive bladder, and hyperlipidemia. However, these had been well controlled with his receiving medication including lansoprazole (15 mg, daily), carvedilol (2.5 mg, daily), mirabegron (50 mg, daily), and cilostazol (100 mg, daily).\nLaboratory finding showed pancytopenia, mild elevation of liver and biliary enzymes and renal dysfunction. Elevation of ACE, lysozyme, and soluble IL-2 receptor were suggestive of sarcoidosis (Table). Urinalysis revealed mild proteinuria, hematuria, and granular casts.\nChest radiographs revealed no significant findings, including bilateral hilar lymphadenopathy. Even chest computer tomography (CT) did not show hilar and mediastinal lymphadenopathy, or other significant findings in the lungs and mediastinum. Abdominal CT showed hepatosplenomegaly and renal enlargement (Fig. 1, Fig. 2). Bone marrow biopsy revealed a large number of noncaseating epithelioid granulomas within the hematopoietic area (Fig. 3). Liver biopsy was performed because of hepatosplenomegaly and mild liver dysfunction, and showed non-necrotizing small epithelioid granulomas (Fig. 4). Histological examination of renal biopsy sample showed tubulointerstitial nephritis and focal crescentic glomerulonephritis (Fig. 5). There were no epithelioid cell granulomas in the renal tissue. Immunofluorescence studies were negative for IgG, IgA, IgM, C3, and C1q. Electron microscopy revealed no electron dense deposits.",
"gender": "Male"
},
{
"age": null,
"case_id": "PMC7481816_03",
"case_text": "Based on these serial findings we made a diagnosis of sarcoidosis. The patient was started on prednisolone 20 mg daily (0.5 mg/body), after which an improvement in pancytopenia was noted. However, creatinine rose from 1.1 mg/dL to 1.76 mg/dL and hematuria worsened. Elevation of CRP and lysozyme were considered to indicate continued activity of sarcoidosis. We increased prednisolone to 50 mg daily, after which renal dysfunction and laboratory data including CRP and lysozyme were improved (Fig. 6).",
"gender": "Unknown"
}
] |
PMC7481816
|
[
{
"age": 72,
"case_id": "PMC4929381_01",
"case_text": "A 72-year-old Japanese male with a previous history of cerebral infarction, arrhythmia, and cholecystectomy due to cholelithiasis presented with a 1-week history of general fatigue, pollakiuria, and thirst in December 2014. An intraductal papillary mucinous neoplasm in the pancreatic head was also found during the preoperative assessment for cholecystectomy. Because hyperglycemia (565 mg/dl) was detected, the patient was diagnosed with diabetes mellitus and insulin was immediately administered. As the patient's hyperglycemia improved, his general fatigue, pollakiuria, and thirst disappeared. At first, he did not complain of any abdominal symptoms, and a physical examination showed unremarkable results, but back pain thereafter slowly appeared. A urinalysis revealed glycosuria but not proteinuria. A blood test showed a marked elevation of the patient's hemoglobin A1c level (11.8%, range 4.6-6.2%) and slightly decreased levels of hemoglobin (12.6 g/dl, range 13.6-18.3 g/dl) and amylase (36 U/l, range 39-134 U/l), but normal liver and renal function. However, his cancer antigen 19-9 (381.6 U/ml, range 0.0-37.0 U/ml) and carcinoembryonic antigen (6.6 ng/ml, range 0.0-5.0 ng/ml) levels were elevated. Because pancreatic cancer was suspected based on the rapid progression of diabetes mellitus and high level of cancer antigen 19-9, a radiological examination was also performed. Computed tomography revealed a 4.6-cm solid mass in the pancreatic tail with ring enhancement and a 4.2-cm multilocular cystic mass in the pancreatic head (fig. 1). In addition, three liver metastatic masses and three abdominal lymph node metastases with ring enhancement, which were similar to the tumor in the pancreatic tail, were detected. Therefore, we suspected unresectable pancreatic cancer with multiple liver metastases that was concomitant with intraductal papillary mucinous neoplasm of the pancreas. To get a second opinion, the patient was discharged and visited another hospital. He eventually came back to our hospital 1 month after the first administration. The patient's back pain worsened and his cancer antigen 19-9 level increased (507.8 U/ml, range 0.0-37.0 U/ml) in comparison to his first presentation. We re-evaluated his disease using computed tomography, which revealed progression of the primary pancreatic cancer and increased numbers of liver and abdominal lymph node metastases. Notably, two solid masses were detected in the gastric wall of the upper body and the antrum. Both of them were separated from the primary pancreatic cancer and seemed to be located in the submucosal layer (fig. 2). Esophagogastroduodenoscopy revealed a submucosal tumor with normal mucosa in the posterior wall of the upper body of the stomach, suggesting the gastric hematogenous metastasis of pancreatic cancer (fig. 3). Pathological examinations, such as endoscopic ultrasound-guided fine needle aspiration or percutaneous liver biopsy, had not been performed because the patient declined additional examinations and due to the seemingly rapid progression of the disease. The patient was diagnosed with pancreatic cancer metastasis to the liver, lymph node and stomach based on the elevated level of cancer antigen 19-9 and on the computed tomography image findings.\nChemotherapy using S-1 was immediately administered. After one course, we changed the S-1 to gemcitabine after computed tomography revealed disease progression. Chemotherapy was terminated after two courses due to the deterioration of the patient's condition. The patient died 5 months after the first presentation.",
"gender": "Male"
}
] |
PMC4929381
|
[
{
"age": 83,
"case_id": "PMC8222603_01",
"case_text": "The patient was an 83-year-old woman. She had been receiving treatment for hypertension and constipation for more than 20 years. However, she had no other medical history, including psychiatric disorders. There was no family history of psychiatric disorders or neurodegenerative disorders. Following graduation from high school, she began working in a nightclub. She got married in her twenties and had a daughter. She divorced a few years later. Following her daughter gaining employment, she started living alone. She was on public income support during her visit to our clinic. She gradually felt a lack of motivation for outdoor activities at the age of 82 years. Simultaneously, she started facing difficulty with housework and complained of mild amnesia. A few months later, she informed her daughter about the delusional thought that the family doctor drew her blood to kill her. Despite the delusion of persecution, she continued visiting the clinic. Her daughter pointed out that her thought was delusional as it was impossible. Despite all evidence to the contrary, it remained unchanged. However, the delusion suddenly changed a month later, without any specific cause. She believed that her family doctor had fallen in love with her and proposed marriage to her. The delusional conviction seemingly strengthened with time. Moreover, she gradually made up her mind to accept the proposal. Considering the gradual progression of cognitive impairment and apathy, her daughter proposed living together. She refused her daughter's proposal and continued living alone because she was convinced that she would live with her family doctor in the near future. Her daughter recommended that she visit a memory clinic. Although she did not have any insight into her delusional beliefs, she was aware of her cognitive impairment. Therefore, she visited our memory clinic and was admitted to our hospital for examination and treatment at the age of 83 years.\nOn her first visit to our hospital, we did not observe any apparent depressive or manic symptoms. Neurological examinations revealed mild bradykinesia, mild rigidity of the left upper and lower limbs, and chronic constipation. The results of her cognitive assessment were as follows: Mini-Mental State Examination score was 20/30, a Japanese version of the Alzheimer's Disease Assessment Scale-cognitive subscale score was 10/70, the index of subtests of the digit span of Wechsler Adult Intelligence Scale-III was 5, and Mayo Fluctuation Questionnaire score was 5 out of 8, which indicated mild recent memory impairment, attention deficit, and cognitive fluctuation (Table 1). We conducted the Neuropsychiatric Inventory 12 to assess her neuropsychiatric symptoms. She scored 20 points, involving the categories of delusion (12/12) and apathy (8/12) (Table 1). Blood test results, including vitamins, thyroid function, and infections, were all normal. Brain magnetic resonance imaging revealed mild diffuse cortical atrophy and mild bilateral hippocampal atrophy, compatible with her age (Figure 1). Perfusion single photon emission computed tomography revealed mild hypoperfusion in the bilateral parietal lobe. Myocardial accumulation of metaiodobenzylguanidine (123I-MIBG) was low (H/M = early: 1.72, delayed: 1.34) (Figure 2). The aforementioned results indicated a probable diagnosis of DLB.\nFollowing the examinations, she was prescribed 3 mg of donepezil, the dose of which was gradually increased to 10 mg. She was simultaneously prescribed 25 mg of quetiapine (at night) for the treatment of delusions. However, we soon discontinued quetiapine because of its adverse reactions, such as drowsiness and dizziness. We also prescribed brexpiprazole (1 mg/day) and risperidone (0.5 mg/day). However, their side effects, such as drowsiness, were extremely severe, without any amelioration of her delusion. While she did not refuse the medications, she still had no insight to her delusion. Moreover, she occasionally claimed to visit her family doctor following her discharge. We then prescribed blonanserin (4 mg/day) and continued it, with extremely mild side effects. After 2 weeks, her attitude to the delusional beliefs began to change. She gradually lost passion for her family doctor. Based on our suggestions, she changed her family doctor and was discharged from our hospital. During follow-up, she rarely talked about the previous doctor, who had been the subject of her delusion. She still lives alone, and her delusion has not recurred. She is currently on donepezil (10 mg/day) and a small amount of an antipsychotic agent, with coordination of the circumstances (non-pharmacotherapy).",
"gender": "Female"
}
] |
PMC8222603
|
[
{
"age": 46,
"case_id": "PMC6929939_01",
"case_text": "A 46-year-old male patient was admitted to the hospital who presented with systemic repeated erythema with pruritus and local necrosis (Figure 1). Thirteen months ago, this patient was diagnosed as eczema or pemphigus in other hospital; the symptoms improved after corresponding treatment, but the erythema still occurred repeatedly. During the course of treatment, abdominal enhanced MRI was performed at outside hospital, which showed that a mass occupied the tail of pancreas with multiple metastases of liver. Subsequently, the patient went to our hospital for abdominal CT examination again, and similar imaging results were found (Figure 2). Therefore, the laparoscopic pancreaticocaudal resection + splenectomy + left hemihepatectomy + right liver tumor resection + cholecystectomy + portal vein repair were performed on April 1, 2019. Complete resection of the primary tumor and hepatic metastases was obtained. The results of immunohistochemistry in primary tumor showed that the expression of PCK, EMA (weak), CgA, Syn, CD56, Vim and glucagon was positive, and the positive rate of Ki-67 (MIB-1) was 5~10% (Figure 3). Tumor cells in multiple liver metastases were observed, and the highest positive rate of Ki67 (MIB-1) in the live lesions range from 25% to 30%. Postoperatively, the skin rash gradually improved. After 10 days, erythema appeared again, accompanied by pruritus and local necrosis. Results of blood sampling showed that serum glycosylated antibody 125 was increased with a value of 62.98 u/mL, as well as the fasting blood glucose was slightly increased again with a value of 6.51mmol/l. As such, we supplemented the immunohistochemistry test, and the result indicated that the expression of SSTR2 was positive. Abdominal enhanced CT and upper abdomen MRI showed multiple liver nodules (May 2019). Thus, the first cycle of chemotherapy was given on May 11, 2019 (capecitabine: 1000mg BID day 1-14 + temozolomide 200mg QD day 10-14, 4 weeks as a cycle; octreotide 40mg QD day 1, 4 weeks as a cycle). On the 27th day of treatment, the skin lesions on the face of the patient were disappeared, and pigmentation remained on the skin of the legs. Up to now, this patient has received this therapeutic regimen for 5 cycles. On October 10, 2019, the patient underwent transarterial embolization with local anesthesia. Follow up to October 31, 2019, no tumor progression was observed for this patient. Finally, the written informed consent has been provided by this patient, and the study was approved by the Institutional Review Board of West China Hospital.",
"gender": "Male"
}
] |
PMC6929939
|
[
{
"age": 37,
"case_id": "PMC3540647_01",
"case_text": "On April 16, 2001, a 37-year-old driver was admitted to the Department of Cardiology from emergency service. He had a head-on care collision a week earlier without treatment, which caused him chest tightening, pain, breathlessness, and a transient unconsciousness. His vital sign was stable (pulse rate 80 beat/min, respiratory rate 20 times/min, blood pressure 140/70 mmHg) and no signs of visible injury were found. But a CT scan revealed a widening mediastinum and a massive left pleural effusion. He had undertaken medical treatment and monitoring.\nOn the seventh day of admission, he complained a severe chest pain. Electrocardiogram showed a ventricular fibrillation. A defibrillation was successful, but the ST segment remained elevated on the lead V1-V5, with cardiac enzyme: CK3 974 U/L and CK-MB 469 U/L. Echocardiography showed no contraction of the anterior cardiac wall and ejection fraction (EF) 36%, indicating a myocardial infarction. Coronary angiography revealed a disruption of the proximal left anterior descending artery with a 95% stenosis. A PTA was unsuccessful.\nTwenty days later, the patient was transferred to our department, and MRI revealed a spindle-shaped aneurysm at the aortic isthmus with an irregular inner contour. A rupture of interior wall was suspected (Figure 1(a)). On May 19, 2001, from right femoral approach, a 32 mm x 120 mm individualized indigenous endograft (stainless steel stent with silk membrane) was made and successfully deployed under fluoroscopic observation. Angiography showed a successful treatment (Figures 1(b) and 1(c)). The patient was discharged in a satisfactory condition seven days later, with EF improved to 47.9%. Follow-up MRI was obtained two years later (Figure 1(d)).\nIn October 2010, the patient came back for checkup, informing that he had resumed working shortly after discharge, not as a driver, but as a security guard. He enjoyed such a good health that it took him only six minutes to run 1000 meters. Even though his echocardiography still showed no movement of the anterior cardiac wall, he was in good shape. A computed tomographic angiography (CTA) followup confirmed that the endograft was in the same position vis-a-vis the isthmus. Although the middle portion of the graft was slightly dilated, it was acceptable at this point (Figure 2). In July 2012, eleven years after endograft deployment, he remained healthy, with all functions normal.",
"gender": "Male"
}
] |
PMC3540647
|
[
{
"age": 44,
"case_id": "PMC9500339_01",
"case_text": "A 44-year-old woman presented to our department with a history of slight abdominal pain for 4 months. She had a long history of living in an area with echinococcosis, and there was no significant familial medical history for this patient. The medical examination found a mass located in the middle right abdominal region with tenderness and unclear boundaries.\nAfter admission, the laboratory tests indicated normal white blood cell (WBC) [4.74 x 109/L, (references 3.50-9.5 x 109/L)] and absolute eosinophil counts [0.45 x 109/L, (references 0.02-0.52 x 109/L)], the serum tumor markers were normal and a positive anti-echinococcus IgG antibody status. The contrast-enhanced CT scan showed a 12 x 12 cm \"egg-shelled\" mass located in the hepatorenal area (Figure 1A). This mass had a well-distributed calcified wall wrapping around the homogeneous content with point calcifications. The content showed mild enhancements during arterial phases (Figure 1B). The primary diagnosis was abdominal AE disease. This patient underwent laparotomy surgery for a mass resection. During surgery, we found a large calcified mass located near the upper right kidney arising from the right adrenal gland adjacent to the lower right hepatic lobes. The patient had the entire mass and the right adrenal gland resected. This patient recovered smoothly and was discharged uneventfully 20 days after the operation.\nThe resected specimen had a calculated shell (Figure 1C), which wrapped around the homogeneous necrotic content with point calcifications (Figure 1D). The pathological examination revealed calcification of the surface, necrosis and sclerotization of the contents. The immunohistochemical examination revealed positive expressions of CD-34, CD-31 and D2-40 but no expression of CK. These findings supported a pathologic diagnosis of adrenal lymphangioma with hemorrhage and hematoma formation. There were no significant findings in the follow-up 6 years after surgery for this patient.",
"gender": "Female"
},
{
"age": 55,
"case_id": "PMC9500339_02",
"case_text": "A 55-year-old woman was admitted with a history of an abdominal mass for over 10 years. The patient had unremarkable medical and family histories, and her physical examination was normal. After admission, the laboratory evaluations indicated normal WBC (7.25 x 109/L) and absolute eosinophil counts (0.32 x 109/L), and the other significant index were negative, except her serum anti-echinococcus IgG antibody was positive. The contrast-enhanced CT scan revealed a heterogeneous, solid mass measuring 10 x 9 x 8 cm in the right hepatic lobe (Figure 2A). The mass had a clearly calcified edge wrapping around the homogeneous content with multipoint calcifications and calcified separations (Figure 2B). Furthermore, three-dimensional CT reconstructed imaging revealed that the right hepatic vein and hepatic pedicle were involved from the dorsal to the ventral part but were not invaded into or encapsulated (Figures 2C,D). The primary diagnosis was hepatic CE (CE-5 type).\nAfter an appropriate preoperative preparation, a laparoscopic exploration was performed, and the surgery revealed that the mass arose from the retroperitoneal tissue rather than the liver. There was an obvious calcification of this mass which was pressing against the right kidney and lower right hepatic lobes (Figure 3A), the edge of which was clear (Figure 3B). A laparoscopic retroperitoneal mass resection was successful, and the patient recovered smoothly and was discharged uneventfully 7 days after the operation.\nIt was found that the resected mass had a calcified shell (Figure 3C), which wrapped around the bleeding necrotic content with point calcifications and calcified separations (Figure 3D). During a microscopic exam, we found fibroplasia and residual cell components that expressed neuroendocrine markers. The immunohistochemical examination revealed positive expressions of syn, HMB45, CD56, CD68 (weak) and CK (weak) but no expression of SALL4. The percent for Ki-67 was 2%. These findings supported a pathologic diagnosis of paraganglioma with necrosis and cystic changes.",
"gender": "Female"
}
] |
PMC9500339
|
[
{
"age": 59,
"case_id": "PMC8407642_01",
"case_text": "A 59-year-old male was urgently transferred from a dental clinic to the maxillofacial service at the referral hospital. Four implants had been placed in the mandible under local anaesthesia plus sedation. During implant site preparation on the right side, lingual cortex perforation was noticed without apparent implication, allowing to accomplish the procedure. However, in some minutes, hematoma in the floor of the mouth appeared and progressed despite tamponade attempts.\nThe patient showed general discomfort, sweat, hoarse voice and anxiety, and referred oral swelling, dysphagia and breathing difficulty.\nIntraoral exploration revealed a prominent, but apparently stable 5 x 4 cm hematoma in the floor of the mouth, pushing the tongue against the pharynx and palate, causing subtotal oropharyngeal obstruction [Figure 1]. Right submandibular swelling was present.\nThe diagnosis was based on clinical exploration and monitorization, which showed an oxygen saturation of 91% and a heart rate of 104 beats per minute with tachypnea rate of 26. The hemoglobin level was 15.7 g/dl.\nThe patient was transferred to the intensive care unit, where percutaneous tracheostomy under local anaesthesia without intubation was performed. Given that hematoma growth had ceased, neither surgical approach for hemostasis nor drainage was made.\nComputed tomography (CT) scan [Figure 2] showed diffuse density increase in the floor of the mouth, without any blood collection nor active bleeding.\nAfter tracheostomy, oxygen saturation increased to 97% and the heart and breath rate normalized (80 bpm and 18 bpm, respectively).\nHematoma volume decreased gradually during the following days and the tracheostomy tube was removed on the 3rd postoperative day. The patient was discharged a day later.\nThe follow-up (1 year) was uneventful. The hematoma resolved during the second week, and the tracheostomy wound healed spontaneously. No implant removal was necessary [Figure 3].",
"gender": "Male"
}
] |
PMC8407642
|
[
{
"age": 68,
"case_id": "PMC10310350_01",
"case_text": "A 68-year-old man suffered from dyspnea and dysphagia after a skiing accident. The patient had no past medical history. Three days later, the patient visited our hospital and was admitted because of a Jefferson fracture and basilar impression revealed during the XP, CT, and MRI of the craniocervical junction (Fig. 1). After hospitalization, lower cranial nerve palsies involving the ninth, tenth, and twelfth cranial nerves were observed. The gap in the fractured anterior arch of the atlas was over 5 mm, and CT sagittal images showed a basilar impression. The tip of the odontoid process was located above the Chamberlain's line (a line from the hard palate to the base of the skull). Furthermore, strong radiating pain occurred when swallowing from the pharynx to the larynx. The pain and the dysphagia made food intake extremely difficult. As bone fusion was expected to be unlikely by external fixation with a halo vest, a posterior fixation surgery was performed.\nOn the eleventh day after the accident, occipitocervical posterior fixation was performed (day X). The O-C2 angle was kept approximately 5 degrees wider than the preoperative O-C2 angle to prevent postoperative dysphagia and dyspnea, and the basilar impression was slightly reduced. The surgery was uneventfully; however, pharyngeal palsy and airway obstruction occurred. Consequently, tracheostomy was performed using a single-lumen cuffed tracheostomy tube.\nOn the X+2 day, bradyesthesia and bradykinesia of his epipharynx and hypopharynx were found with a nasopharyngeal fiberscope, and tube feeding with a nasogastric tube was initiated.\nOn the X+8 day, SLP therapy was started for tracheostomy decannulation. The conditions for decannulation (Table 1) were assessed using the \"Multidisciplinary decision chart for evaluating readiness for decannulation used in the Rehabilitation Basel\") (Table 1-A), the \"Decannulation Protocol Checkpoint\") (Table 1-B), and the Mann Assessment of Swallowing Ability (MASA; the assessment measures twenty-four different areas to gage the swallowing ability, highest possible score being 200).) In our patient, pharyngeal and swallowing reflexes were absent. He had dysphagia, velopharyngeal incompetence, vocal fold palsy, and hypoglossal nerve palsy. The strength of the sternocleidomastoid and trapezius muscles was difficult to assess because of pain. The patient did not show any facial sensory disturbance. The patient's MASA score was 94/200, indicating severe dysphagia.\nOn the X+8 day, training was initiated to induce vocalization by injecting air from the side tube (the side tube is used for vocal practice and suction of deposits on the cuff) using a 50-cc syringe. On the X+10 day, the patient could utter vocal sounds using the training tube. He could clear the 1st, 2nd, 5th, 8th, and 9th SLP criteria, all of the Nurse criteria, and the 1st-to-3rd Physician criteria of the \"Multidisciplinary decision chart for evaluating readiness for decannulation used in the Rehabilitation Basel\"); hence, the decannulation protocol proceeded to training under cuff-deflation. Moreover, on the X+12 day, the swallowing reflex improved and the MASA score increased to 115/200. The tracheostomy tube was changed to a double-lumen, fenestrated cuffed tube, and the decannulation advanced to the step of tube occlusion with a one-way valve. On the X+14 day, the patient was able to extend his tongue to the upper lip, and pharyngeal reflex appeared. The patient was able to breathe using a one-way valve during the day. On the X+17 day, his cough reflex improved and the MASA's score increased to 142/200; moreover, the patient could clear all the \"Multidisciplinary decision chart for evaluating readiness for decannulation used in the Rehabilitation Basel\") criteria with the deflated cuff; hence, tube occlusion training was initiated. On the X+21 day, the patient could clear all the criteria on the \"Multidisciplinary decision chart\") during tube occlusion intervals. The patient met the \"Decannulation Protocol Checkpoint\") and was cleared for decannulation. The patient's MASA score increased to 160/200.\nOn the X+23 day, the swallowing function gradually recovered, and the swallowing reflex to water became also reliably triggered. The nasogastric tube was removed and the patient could consume soft and bite-sized foods. The patient's tongue deviated to the left, so we conducted the nonspeech oral motor exercise. On the X+36 day, the patient could easily chew food and was discharged home. SLP therapy was continued at our clinic. On the X+45 day, the patient could eat regularly, and the MASA score increased to 191/200, which meant that there was no dysphagia.\nOn the X+46 day, the patient was able to speak clearly enough that a normal listener could easily understand. Moreover, the speech rate of text and the oral diadochokinesis) were normal. However, the patient complained that he could not speak as fast as before. The alternating repetitive movements of his tongue presented incoordination of movement, thus SLP therapy was continued. On the X+171 day, the patient was able to speak more clearly than on the X+46 day. However, the patient complained of his unrecovered speech rate and his leftward tongue deviation. Fig. 2 shows the progression of the patient's speech rates, alternating repetitive movements, and oral diadochokinesis.",
"gender": "Male"
}
] |
PMC10310350
|
[
{
"age": 48,
"case_id": "PMC5317073_01",
"case_text": "A 48-year-old female sustained a pathological fracture in the left femur. She underwent surgical fixation (intramedullary nailing) of the fracture and histopathology revealed only necrotic bone and inflammatory tissue. Nine months later, she developed pain in the right thigh which progressively increased in severity over time. She presented with a pathological fracture in the neck of the right femur. 99mTc-methylene diphosphonate bone scan showed increased osteoblastic activity in the right humerus, iliac bones, sacrum, shaft of the right femur, and the scan findings were consistent with the diagnosis of metastatic disease. Concurrently, serum electrophoresis revealed monoclonal gammopathy. With the diagnostic possibilities of metastases from unknown primary site and myeloma, 18F-FDG PET/CT scan was done. 18F-FDG PET/CT scan revealed moderate-to-intense abnormal FDG uptake in the bulky uterine cervix with intensely FDG avid osteolytic skeletal lesions [Figure 1]. The possibility of carcinoma cervix was considered; however, extensive skeletal metastases with no lymph nodal involvement being unusual encouraged us to entertain other diagnostic possibilities. Hence, a biopsy from the uterine cervix was done which revealed diffuse large B-cell lymphoma (DLBCL). Further, the patient underwent surgical fixation of the pathological fracture of the right femur, and histopathology from this fracture site again came as DLBCL. Thus, she was diagnosed as having extranodal lymphoma (DLBCL) with skeletal and uterine cervix involvement. She was then started on steroids and chemotherapy. Unusual pattern of involvement of uterine cervix and multiple osteolytic skeletal lesions in 18F-FDG PET/CT scan triggered us to search for other differential diagnoses and also helped in guiding the site of biopsy to reach a final diagnosis and initiate the appropriate treatment.",
"gender": "Female"
}
] |
PMC5317073
|
[
{
"age": 17,
"case_id": "PMC6800088_01",
"case_text": "The clinical features in trisomy 9q were first reported by. Four large families with seven individuals from the same geographical region reported by had the same duplication of chromosome band 9q34 secondary to an inverted insertion of chromosome 9. Similarly, reported a girl with a 9q34 duplication derived from a balanced translocation in the mother. Ten years later, reported our patient during infancy with a de novo duplication of 9q34-qter and monosomy 12p13.33 secondary to an unbalanced translocation. More recently, a 17-year-old female with a duplication of the 9q33.3q34.1 region was described by.\nOnly a few subjects are reported with the 9q34 duplication, although several anomalies were in common. These include dolichocephaly, an asymmetric narrow face, deep-set eyes, small and narrow palpebral fissures, prominent beaked nose, small mouth and abnormal dental findings, arachnodactyly and digital anomalies, broad-based gait, hypotonia, and developmental delay. However, cutaneous syndactyly, hyperflexibility, low birth weight, and normally positioned digits in our patient are not in common with those reported in the literature. Thus, the phenotype observed in our patient with a 9q34 duplication does correlate with those reported in the literature thereby representing the 9q34 trisomy syndrome.\nHigh resolution molecular cytogenetic techniques now available, such as chromosome microarray hybridization, are useful to fully characterize chromosome rearrangements. This technology allows for a more precise description of size, location, and genes involved in a chromosome region helpful in further characterizing the genetic lesion for genotype-phenotype correlations, genetic counseling, and medical management. The authors encourage the reporting of additional subjects with this rare cytogenetic syndrome using new tools for genetic testing to more precisely identify the chromosome abnormality and breakpoints.",
"gender": "Female"
}
] |
PMC6800088
|
[
{
"age": 58,
"case_id": "PMC6174749_01",
"case_text": "A 58-year-old male presented to the emergency department via private vehicle with multiple complaints. Complaints included \"chest discomfort\", low back pain, shortness of breath, generalized weakness throughout all extremities, and \"numbness\" of bilateral lower extremities. These symptoms began acutely at around 10 hours prior to arrival when he awoke from a dream. The patient stated during the dream that he was in an earthquake and his legs were trapped and crushed in the earthquake; when he awoke both of his lower extremities were numb and weak. He states that all of his symptoms are progressively getting worse and now he \"can't move my legs.\"\nThe patient's past medical history is significant for chronic back pain, anxiety, bipolar disorder, schizophrenia, major depressive disorder, and an episode of previous \"paralysis.\" The patient states in 1997 that he had a lumbar fusion and while in rehab he \"became paralyzed and couldn't move my legs or walk\" and that episode of weakness gradually improved and paralysis resolved without any medical intervention. The patient takes a total of 23 for his medical conditions that include zolpidem, methocarbamol, hydrocodone, carisoprodol, alprazolam, and gabapentin.\nVital signs at time of presentation are benign and reveal a temperature of 99.20 F, HR 68, BP 156/84, and Sating 95% on RA. General exam reveals a nontoxic patient in no acute distress, with a disheveled appearance. Neurological exam reveals that patient is alert and orientated X 3, with a GCS of 15, CN 2-12 intact, and 5+ bilateral upper extremity strength, normal finger to nose movement. Decreased bilateral patellar DTRs and decreased bilateral lower extremity strength 4/5. Otherwise physical exam was within normal limits.\nA CBC, CMP, CK, sed rate, UA, UDS, Troponin-I, D-dimer, EKG, noncontrast CT's of head and C-spine, and CT of chest/abdomen/pelvis with IV contrast to evaluate aorta with spinal reconstruction were ordered. Pertinent labs results include normal Troponin and D-dimer, calcium 10, sed rate of 9, CK of 437, UDS positive for benzodiazepines and opiates (both of which are chronic medications prescribed to patient), and otherwise unremarkable labs and all imaging within normal limits.\nThe patient was now reevaluated. We discussed how his evaluation is unremarkable and cannot explain his symptoms. He responds with \"Doc, it's getting worse and now I can't move my legs at all.\" A repeat neurological exam revealed decreased sensation and bilateral lower extremity strength now 0/5. Pinprick sensation not detected and elicited no movement, despite pinprick drawing blood.\nAt this point, the evaluation had ruled out electrolyte abnormalities, acute myocardial infarction, pulmonary embolism, aortic dissection, acute CVA, spinal pathology, or tick paralysis as potential causes for the patient's acute weakness. The differential diagnosis continued to include Multiple Sclerosis, Myasthenia Gravis, medication reaction, conversion disorder, and Guillain-Barre syndrome. In light of the patient's psychiatric history, atypical complaints, disheveled appearance, medication list, and history of onset related to a dream in which his lower extremities were crushed, the overall clinical picture suggests a psychosomatic conversion disorder. However, this is a diagnosis of exclusion after CNS, peripheral nervous syndrome, infections, vascular, cardiopulmonary, and other potentially life threatening etiologies are excluded and therefore, the medical decision was made to proceed with lumbar puncture and CSF analysis, as well as MRI to fully rule out neurological pathology.\nThe procedure was complicated secondary to patient's history of lumbar fusion surgery from L4-S1 twenty years previously. Scar tissue at the L3-L4 spinal space made the procedure difficult and failed three times. Pt was informed of the difficulty and he states \"please Doc, try one more time.\" At the insistence of the patient, a fourth attempt at lumbar puncture was made and successfully returned CSF that revealed RBC 0, WBC 2, glucose 66, and protein 73.\nFurthermore, an MRI was performed that revealed enhancement of bilateral nerve roots throughout entire thoracic and lumbar spine consistent with Acute Inflammatory Demyelinating Polyneuropathy (AIDP), a form of Guillain-Barre syndrome.\nThe patient was admitted to ICU, underwent 5 rounds of plasmapheresis, physical, and occupational therapy, improved, and was able to ambulate out of the hospital less than 2 weeks later. He never required intubation.",
"gender": "Male"
}
] |
PMC6174749
|
[
{
"age": 50,
"case_id": "PMC9450605_01",
"case_text": "A 50 year old male, street dweller, chronic alcoholic, demented, was admitted to the hospital with multiple cranio-facial injuries, among them he had an ethmoidal fracture, small laminar subdural hematoma, internal carotid thrombosis on the right side and a foreign body that could be seen in the right external acoustic meatus (Figure 1, Figure 2). After being discharged from observation in the neurology ward he was refferred to the ENT department, where the CT scan showed a foreign body that had penetrated through the external acoustic meatus, invaded the middle ear and went down the Eustachian tube. There was an injury in the carotid canal and thrombosis in the internal carotid artery (Figure 3, Figure 4, Figure 5, Figure 6, Figure 6a, Figure 7, Figure 7a), in its furcation, proven by arteriogram (Figure 8, Figure 9, Figure 9a). The patient refused a complete audiologic workup, and we noticed only a profound hearing loss on the right side. Internal medicine doctors examined him and aproved him for general anesthesia for foreign body removal. He was conscious and able to converse, however because of his dementia he did not make sense when he spoke.\nUnder general anesthesia we noticed a foreign body that appeared to be a wood stick used to make barbecue. With a strong forceps we mobilized it in an attempt to remove it, and because of the carotid thrombosis it would be very unlikely to have profuse bleeding. The foreign body did not move. We did a retro-auricular approach with incision in the meatus skin. Since it filled the whole space, we did a mastoidectomy, through which we noticed incus dislocation towards the mastoid cavity. It was removed, together with the malleus. We did a canal wall down approach and in the mastoid cavity we noticed that the wood stick filled the entire middle ear and seemed to progress towards the Eustachian tube. We tried to remove it again, unsuccesfully. We decided to cut it with the burr and keep on using the burr all the way to the begining of the Eustachian Tube. We did not see the stapes. At this point we noticed that the stick penetrated the tube like a locking wedge used in ship building. With the burr we proceeded in cutting all the bone around but especially the wood stick itself which was cut from inside and then pushed inside the lumen made by the burr. There were no reference points, but we saw the carotid canal erosion. We progressed like this for about six centimeters, always drilling down on the stick itself and removing a little of the adjacent bone. Our attempts to remove it were unsuccesful. After this course we noticed the bone had ended and there was soft tissue ahead (cartilaginous portion of the tube). At this point the tip of the wood stick felt loosen and could be removed. Medially we observed a small central nervous system dehiscence. Under the surgical microscope we observed a larger space that would open inferiorly and that was later confirmed as being the nasopharynx after we used the nasal endoscope to look at it. The broad cavity left behind in the tube was filled with muscle and the surgical wound was similar to that left after a canal wall down mastoidectomy (Figure 10, Figure 11, Figure 12, Figure 13, Figure 14). We rebuilt the meatus and sutured the retroauricular incision.\nIn a later CT scan we noticed na erosion of the inferior semicircular canal and of the carotid canal, and part of the central nervous system exposure.",
"gender": "Male"
}
] |
PMC9450605
|
[
{
"age": 69,
"case_id": "PMC2925208_01",
"case_text": "A 69-year-old male with acute non-ST elevation myocardial infarction, underwent off-pump coronary artery bypass grafting, with left internal mammary artery to the left anterior descending coronary artery, and vein grafts to the obtuse marginal and right coronary arteries. Intraoperatively, Doppler flows in all grafts were excellent before and after protamine administration. On postoperative day 2, the patient suddenly developed an episode of ventricular fibrillation, followed by cardiac arrest. Resuscitative efforts were instituted immediately and included closed chest massage, multiple defibrillation attempts, and inotropic support. After twenty minutes of futile closed-chest massage, the sternotomy was reopened, and open cardiac massage was initiated and continued en-route to the operating room (close to thirty-five minutes of open-chest massage). After heparinization, the right atrium and the ascending aorta were cannulated, and cardiopulmonary bypass (CPB) was initiated. The graft to the obtuse marginal artery was found to be occluded. This graft was redone, and good diastolic flow was documented by Doppler flow analysis. Attempts at weaning from CPB were unsuccessful despite inotropic support and intra-aortic balloon pump counter-pulsation. Extra-corporeal membrane oxygenation (ECMO) was initiated using the pre-existing cannulae, with venous return from the right atrium and arterial inflow into the ascending aorta. The sternotomy was left open, and the patient was transported to the ICU, where he was successfully weaned from ECMO over the following twenty-four hours. Three days later, as cardiac function steadily improved and tissue edema subsided, the sternotomy was closed at the bedside. Ensuing multiple organ system failure (renal, respiratory, and sepsis) was treated with dialysis, mechanical ventilatory support, and appropriate antibiotics. Recurrent episodes of VF and low ejection fraction (20%) required subsequent placement of an automatic implantable defibrillator device. The patient was discharged home on postoperative day 32 and has remained well on follow-up.",
"gender": "Male"
},
{
"age": 57,
"case_id": "PMC2925208_02",
"case_text": "A 57-year old male with past history of diabetes, hypertension, and coronary artery disease presented with ventricular tachycardia and fibrillatory arrest (VF). Following resuscitation by paramedics, he continued to have recurrent nonsustained episodes of VF. Emergency cardiac catheterization demonstrated critical left anterior descending artery lesion and greater than 50% left main coronary artery stenosis. Because of recurrent VF, an intra-aortic balloon pump was placed and salvage angioplasty was attempted. Three hours after the procedure, the patient suffered an episode of VF cardiac arrest, unresponsive to closed-chest massage and multiple defibrillation attempts. Closed-chest cardiac massage was continued en-route to the operating room for emergency salvage coronary revascularization (total closed-chest massage time was seventy minutes). After sternotomy, and while closed-chest massage was being performed, the patient was heparinized and CPB was initiated using right atrial outflow and aortic inflow cannulae. Coronary artery revascularization of the left anterior descending and obtuse marginal coronary arteries was performed using saphenous veins. Doppler examination confirmed good diastolic flows in both grafts. As the patient could not be weaned from CPB despite escalating inotropic support, ECMO was initiated using pre-existing cannulae. The sternotomy was left open, and the patient was transported to the ICU. Despite ensuing severe coagulopathy, cardiac function steadily improved over the next forty-eight hours, allowing for successful weaning from ECMO. The sternotomy was closed two days later at the bedside. The postoperative course was complicated by local and systemic infections, requiring six-week course of broad-spectrum antibiotics. He subsequently had an automatic implantable defibrillator device placed and was discharged home in satisfactory condition.",
"gender": "Male"
}
] |
PMC2925208
|
[
{
"age": 40,
"case_id": "PMC8128506_01",
"case_text": "Facial transformation in a 40-year-old male-to-female transgender patient (Figure 2). The patient received 12 units of onabotulinumtoxinA at the crow's feet lines to lift her eyebrows, 12 units in the glabella, and 8 units in the chin. She also received the HA dermal filler VYC-20L for left temple hollow filling (1.5 cm3), malar and zygomatic augmentation (2 cm3), nonsurgical rhinoplasty to straighten the nose (0.5 cm3), and chin sculpting (1.5 cm3). The patient also underwent lip augmentation with 1 cm3 of HYC-24L. The outcome for this patient was a subtle feminization of her face. Midface volumization brought the cheek apex into a more superolateral position, creating a soft and feminine ogee curve, as well as a more oval shape to the face. Brow elevation gave her a slight arch to the lateral one-third of her eyebrow. Her nose became smoother, straighter, and more delicate via tip elevation and camouflage of the dorsal hump. Lastly, the lower face was feminized by lip augmentation, as well as tapering and narrowing of the chin.",
"gender": "Transgender"
},
{
"age": 25,
"case_id": "PMC8128506_02",
"case_text": "Full-face transition in a 25-year-old male-to-female transgender patient (Figure 3). This patient, who had been on estrogen therapy for over 2 years, received 4 units of onabotulinumtoxinA at each lateral end of her eyebrows to lift them and 25 units in each masseter to reduce the muscle bulk. She received VYC-20L at each temple (1 cm3) to correct for hollowing, in the forehead (1.2 cm3 total), at each alar base (0.3 cm3), in the malar and zygomatic region for augmentation (1.8 cm3 total), and in the chin (3 cm3). Lip augmentation was also carried out using 1 cm3 of VYC-15L. The outcome for this patient was convexity of the forehead with diminished supraorbital bossing and brow elevation with improved convexity to the brow. In the midface, the cheeks were more pronounced with an enhanced ogee curve, and the nose base was more feminine. Her jawline became more V shaped with a feminine chin. Her lips were more heart shaped, which fit in with a more feminine visage.",
"gender": "Transgender"
},
{
"age": 42,
"case_id": "PMC8128506_03",
"case_text": "Masculinization of the jawline in a 42-year-old female-to-male transgender patient (Figure 4). This patient was at the beginning of the transition process and was eager to experience how female facial looks could be transformed into desired male features without surgery. During the first treatment, he received bilateral bolus injections of VYC-20L (0.5 cm3) to the posterior part of the gonial angle; injections were placed perpendicular to the mandibular bone. He also received bilateral injections of VYC-20L (0.25 cm3 per injection site); 1 injection point was in the prejowl sulcus on the mandibular bone, and the other injection point was at the tuberculum mentale. One month later, VYC-20L (1 cm3 per side) was administered along the mandibular body using a 25G cannula; the entrance point was posterior and inferior to the foramen mentale directed along the bony rim toward the masseter insertion.",
"gender": "Transgender"
},
{
"age": 19,
"case_id": "PMC8128506_04",
"case_text": "Female-to-male jawline and chin enhancement in a 19-year-old patient (Figure 5). This patient had been receiving testosterone for 7 months before undergoing nonsurgical lower face enhancement. A total of 6.2 cm3 of VYC-25L was distributed between the lateral lower chin, chin apex, submental region, mandible body, ramus of the mandible, and mandible angle. A masculine and well-defined jawline with prominent mandible angle was achieved. From the frontal view, the chin appeared broader and more square, in line with a masculine visage.\nFeminization of the eyebrow using onabotulinumtoxinA in a patient in his late 20s (Figure 6). The patient presented to the clinic for treatment of the upper face rhytides. He received 10 units of onabotulinumtoxinA in the frontalis muscle. The injection pattern avoided the inferior frontalis muscle fibers in the lateral one-third of the eyebrow resulting in lateral eyebrow elevation. Two weeks after treatment, the patient developed a feminized eyebrow shape.\nFeminization of the lips using HYC-24L in a patient in his early 60s (Figure 7). The patient received 1 cm3 of HYC-24L in both the upper and lower lips to augment and shape his lips. Subtle augmentation was performed to highlight lip shape, especially the upper-lip Glogau-Klein points.",
"gender": "Transgender"
}
] |
PMC8128506
|
[
{
"age": 53,
"case_id": "PMC6317835_01",
"case_text": "A 53-year-old woman with a history of neurofibromatosis, Hodgkin's lymphoma, and C3-T2 fusion 4 years prior for swan-neck cervical deformity was admitted for evaluation of left frontal skull mass and progressively worsening dysphagia of solid foods and thick liquids over 6 weeks. Computed tomography (CT) of the abdomen, pelvis, and lumbothoracic spine showed multiple hypodense liver lesions and diffuse sclerotic bone lesions within the thoracic and lumbar spine, ribs, sacrum, and ischium suspicious for metastatic malignancy. Fine-needle aspiration of the liver lesions yielded immunochemistry positive for focal CA 19-9 staining suggestive of adenocarcinoma of upper gastrointestinal (GI) origin. Serum CEA and CA 19-9 were within normal limits. Esophagogastroduodenoscopy did not reveal an upper GI tumor; however, a metal object was seen in the hypopharynx just above the upper esophageal sphincter (Figure 1). It appeared to be fixed and could not be moved with grasping forceps. The adult gastroscope could not be advanced beyond the object; however, the ultraslim could. A sagittal CT view of the neck with contrast showed the offset of the anterior cervical internal fusion plate with direct communication to the hypopharyngeal airway and suggesting erosion through the posterior hypopharyngeal soft tissue (Figure 2). Given the patient's multiple comorbidities and presumably metastatic cholangiocarcinoma, neurosurgery service recommended medical management rather than surgical management. A 6-week course of intravenous ertapenem was initiated due to the high risk of abscess formation. The patient underwent gastric tube placement for feeding and was eventually discharged under hospice care.\nDysphagia is an underrecognized but significant complication of cervical fusion surgeries. The incidence of esophageal perforation after anterior cervical spine surgery is estimated to be between 0.02% and 1.49% with a mortality rate of 6%. Most esophageal erosions occur in the intraoperative or immediate postoperative setting, although there has been an increase in cases with delayed presentation, which often lead to dramatic clinical deterioration with a higher mortality risk of 20-50%. Most esophageal injuries are due to iatrogenic injury intraoperatively from inappropriate placement or dislodgement of retractors or hardware migration. Delayed injuries are typically due to chronic compression, abscess formation, repetitive friction of the plating system, or hardware dislodgement and chronic migration. Diagnosis can be made with cervical radiographs; however negative imaging does not rule out esophageal injury. Operative intervention is recommended, but conservative medical treatment is appropriate depending on the patient and the clinical circumstances.\nAlthough cervical endplate erosion of the esophagus has been well documented in the literature, hypopharyngeal erosion has only been reported once previously. It is imperative that health care providers are vigilant and complete a thorough workup in patients with persistent or worsening dysphagia who have undergone a previous anterior cervical surgery.",
"gender": "Female"
}
] |
PMC6317835
|
[
{
"age": 60,
"case_id": "PMC9037883_01",
"case_text": "A 60-year-old female presented with complaints of fever for 1 month. The pain was progressive and associated with an inability to walk. On examination, there was a large lump in the right lumbar region. She was menopausal for 12 years and had no significant gynecological history. Her routine blood investigation revealed anemia (Hb-7.6 g/dl), leukocytosis (15,400/uL), and raised serum LDH levels (1140 u/L). Ultrasound (USG) abdomen showed enlarged retroperitoneal LNs. Guided histopathology showed high-grade lymphoma. Immunohistochemistry was noncontributory due to large areas of necrosis and marked degenerative changes. A baseline FDG PET/CT was done [Figure 1]. She received three cycles of the R-CHOP regimen (rituximab, cyclophosphamide, doxorubicin, vincristine, and prednisone). Her interim FDG PET/CT after three cycles of chemotherapies revealed a partial response to the treatment (not shown).",
"gender": "Female"
},
{
"age": 11,
"case_id": "PMC9037883_02",
"case_text": "An 11-year-old girl presented with swelling on the left side of the neck for 6 months. She had no associated fever or weight loss. On examination, the patient had palpable, firm enlarged cervical LNs. She has not attained menarche. She had no significant gynecological complaints. Her biochemical investigations were unremarkable. CT suggested bilateral enlarged cervical LNs. Excision biopsy was suggestive of NHL (diffuse large B cell lymphoma). Her baseline FDG PET/CT revealed stage-IV disease [Figure 2].",
"gender": "Female"
},
{
"age": 60,
"case_id": "PMC9037883_03",
"case_text": "A 60-year-old female presented with swelling on both sides of the neck for 3 months. It was associated with on and off fever and generalized weakness. On examination, she had multiple enlarged bilateral cervical LNs. Biopsy was suggestive of anaplastic large cell lymphoma. The patient was given three cycles of R-CHOP. However, no clinical response was noted. She was referred to our institute for further management. She had no gynecological complaints. LDH levels were significantly raised (825 u/L). The rest of the biochemical investigations were unremarkable. HPE was suggestive of diffuse large B cell lymphoma (anaplastic variant). On immunohistochemistry, tumor cells were positive for CD-20 and CD-3. FDG PET/CT was done for restaging [Figure 3]. The patient was lost to follow-up during the COVID-19 pandemic.",
"gender": "Female"
}
] |
PMC9037883
|
[
{
"age": 58,
"case_id": "PMC9463015_01",
"case_text": "A 58-year-old patient presented molar and canine Class II relationships on both sides (Figure 1). Maxillary and mandibular interincisal midlines did not coincide. Clinical intraoral examination showed the maxillary arch quite aligned, with mild rotations of the left incisors. On the other hand, the mandibular arch presented a multibraided fixed retainer bonded to all six anterior teeth with the right canine root lingually torqued. The root was exposed, almost revealing the apex, and the element was not vital. Elements 3.2 and 3.3 resulted retroclined, withdiastemas between elements 3.1-3.2 and 3.2-3.3, a 90 rotation of 3.3. Calculus in the fifth sextant, multiple recessions, and restorations were present.\nA cone-beam computed tomography (Orthophos SL 3D, Sirona, Bensheim, Germany) was performed, confirming the former periodontal findings (Figure 2(a)). The root of the right canine was not covered by cortical bone anymore (Figures 2(b) and 2(c)).\nClinicians suggested different solutions to the patient. The first alternative involved the extraction of all lower incisors and the right canine, followed by the placement of dental implants with guided surgery and, finally, a prosthetic rehabilitation. However, this alternative would have not solved the rotation of element 3.3. The second alternative considered every other prosthetic solution without implant placement, but it would have led to treatment failure as extracting lower cuspids would have meant removing the anchor teeth or pillars for the prosthetic rehabilitation. These alternatives were too invasive and radical, in particular, the former alternative could have led to failures and peri-implantitis.\nThe most conservative solution was fixed orthodontic treatment with multibracket appliance aiming at preserving the affected teeth. This option was the least invasive, but it could have been complex from a biomechanical point of view and challenging for the retrieval of the right canine, with poor prognosis. Consequently, after being informed of all risks and having signed an informed consent, the patient chose to undergo orthodontic treatment only for the lower arch.\nThe primary objective was to correctly reposition the mandibular right canine, in order to avoid the placement of a dental implant or fixed dental bridge. As the patient requested a noninvasive treatment, it was decided to start fixed orthodontic treatment only on the lower arch.\nAfter the removal of the fixed retainer, periodontal probing, supra and subgingival professional oral hygiene was performed. Periodontal probing and supragingival oral hygiene sessions were repeated if needed for calculus accumulations during all orthodontic treatment. A multibracket treatment was performed with the MTB technique. Brackets (3M Unitek, Monrovia, CA, USA) were bonded from elements 3.5 to 4.5, and molar bands with double tubes (3M Unitek) were cemented to elements 3.6 and 4.6. On the lingual side of molar bands, Wilson 3D lingual tubes (Rocky Mountain Orthodontics, Denver, USA) with vertical insertion were welded. In order to obtain additional torque on the right mandibular canine, a lower second premolar bracket (3M Unitek) was bonded. A 0.012-in NiTi archwire 3M (Figure 3) was ligated. A Wilson 3D sectional archwire (Rocky Mountain Orthodontics) was inserted on element 4.6 (Figures 4(a) and 4(b)) as an additional lingual/apical force became necessary to help the root apex return in the alveolar bone base. Its mesial extremity was placed on the most apical point of the root of the right canine, distant from lingual mucosa. The lingual sectional was removed after three months of treatment. Meanwhile, the following arch sequence was used: 0.014-in NiTi (Figure 5), 0.016-in NiTi, and a 0.019 x 0.025-in NiTi (3M Unitek). Light archwires were used for a long time in order to achieve a good alignment; considering the age of the patient, continuous and light forces were exerted to respect periodontal tissues. Subsequently, a 0.019 x 0.025-in TMA (3M Unitek) was used. Additional torque was progressively added on the right canine for the next three months. Treatment continued with the addition of radicular-vestibular torque on the IV quadrant and an elastic chain (3M Unitek) applied to close spaces.\nThe multibracket treatment lasted a year and a half. The mandibular right canine was repositioned (Figure 6) and a periodontal examination showed probing pocket depth values of 3 mm. In addition, the general dentist decided to perform root canal treatment of the canine one year after the beginning of orthodontic treatment as the tooth was not vital and not symptomatic. Elements 3.2 and 3.3 were repositioned too, and spaces were closed (Figure 7).\nA spring retainer was delivered to the patient (Figure 8). It consisted of an anterior stainless-steel wire with vestibular and lingual resin components. The latter extended to the molars to improve stability.\nThe patient was visited after 1, 5, 12, and 18 months from the end of the orthodontic treatment. The stability of the results was observed after 18 months (Figure 9). The patient was satisfied by the result of the therapy but was aware that unwanted tooth movement could occur in the upper arch anyway as she excluded every kind of retention. The patient will continue to be under close observation through regular follow-up examinations.",
"gender": "Female"
}
] |
PMC9463015
|
[
{
"age": 21,
"case_id": "PMC5055922_01",
"case_text": "A 21-year-old male was found to have a left hypochondrial mass on physical examination following a trivial soft tissue injury. Ultrasound scan revealed a large retroperitoneal mass in the pancreatic tail region with a mild splenomegaly. No other abnormality was noted in the ultrasound scan. Contrast-enhanced computed topography (CT) of the abdomen showed a 10.3 x 7.6 x 10.3 cm size heterogeneous mass with mild contrast enhancement arising from the body and the tail of the pancreas with no calcifications (Figure 1). Multiple vascular channels were seen around the lesion. Splenic vein was compressed and displaced by the mass with enlargement of the spleen. Mass effect had displaced the left kidney posteriorly. All other intra-abdominal viscera were normal. All haematological investigations were normal.\nHe underwent laparoscopic resection of distal pancreatic tumour en bloc with spleen. Patient was operated on in right lateral position with head-up tilt using five ports. Figure 2 shows the ports arrangement. Large tumour was noted originating from the body and tail of the pancreas with dilated veins surrounding the tumour. Patient also had a large spleen and an enlarged liver. Dissection was performed using ultrasound dissector and bipolar diathermy. Splenic artery divided between clips and splenic vein was ligated and clipped before dividing. Pancreas was divided just distal to the portal vein using bipolar diathermy and ultrasound dissector. The specimen (Figure 3) was delivered in a bag through a 7.5 cm incision.\nPostoperative period was uneventful and he was discharged on 4th postoperative day.\nHistology revealed a tumour predominantly composed of sheets of round to polygonal cells containing sharp cytoplasmic vacuolations and bland nuclei. The eosinophilic cytoplasm was seen as a rim in the periphery. Very occasional mitotic figures were present (Figure 4). The focal pseudopapillae formation was also evident with vascular cores lined by neoplastic cells (Figure 5). The stroma was highly vascular (Figure 6). There were thick fibrous septae and focal hyalinization in the stroma. Cystic and haemorrhagic foci were present. Cholesterol clefts surrounded by a giant cell reaction were also noted. Thin fibrous capsule was noted encircling the tumour (Figure 7). Multiple foci of partial capsular infiltration were also noted (Figure 8). However, the adjacent pancreatic tissue was not infiltrated by the tumour.\nFinal diagnosis of a clear cell variant of solid pseudopapillary neoplasm with a steatotic pattern was made. Patient was referred to the oncologist for follow-up.",
"gender": "Male"
}
] |
PMC5055922
|
[
{
"age": 45,
"case_id": "PMC7132354_01",
"case_text": "A 45-year-old male patient presented with persistent pain and effusion at the lateral aspect of his right knee. He underwent an uneventful ACL reconstruction ten years before, with total functional recovery and no instability or pain symptoms after full rehabilitation postoperative program. For ACL graft fixation, a bioabsorbable crosspin was used at the femur and a bioabsorbable interference screw was used at the tibia. The patient reported that he did not suffer any trauma, increased sports activity level, or other remarkable events in the weeks or months prior to the moment when pain and effusion started. The patient was first treated at another centre where femoral crosspin loosening was noted. After a magnetic resonance image (MRI) showed an intact ACL graft and no other complications, the patient underwent surgery for the removal of a femoral crosspin.\nOne month after femoral crosspin removal surgery, effusion and pain persisted. Then, the patient was evaluated at our hospital for the first time. Physical exploration showed swelling at the lateral aspect of the lateral femoral condyle (Figure 1). A rounded, cyst-like mass with well-defined borders was evident at palpation. No local signs of infection were found. Lachman, pivot-shift, and anterior and posterior drawer tests were negative, with a full range of motion and no valgus or varus instability at physical exploration. Plain anteroposterior and lateral radiographs of the knee showed adequate tunnel position and no tunnel widening.\nSuspected diagnosis was postsurgical seroma. Treatment included percutaneous drainage, nonsteroidal anti-inflammatory drugs (NSAIDs), and RICE (rest, ice, compression, and elevation). Samples from the drained seroma were sent for microbiological analysis and culture, with no bacterial ingrowth. Prophylactic antibiotic treatment was prescribed until a negative result of synovial fluid cultures was obtained. Initial evolution was satisfactory, with complete symptom release for 6 months. After this period, recurrent swelling at the lateral aspect of the knee reappeared and remained despite percutaneous drainage. A cyst-like rounded mass was palpable at the same location of previous episodes. Physical exploration was similar to our first evaluation; no local or systemic infection symptoms were found.\nMRI showed a cyst formation at the lateral aspect of the knee, with fluid signal in the graft femoral tunnel and around the crosspin tunnel entrance at the lateral cortex of the lateral femoral condyle (Figure 2).\nSurgical treatment in collaboration with plastic surgery was carried out. With the patient in supine position and under ischaemia of the leg, standard knee arthroscopy was carried out. Full knee arthroscopic exploration showed an intact ACL graft with no meniscal or articular cartilage lesions. No widening of the femoral or tibial ACL graft tunnels was noted, and neither was there any graft loosening. During arthroscopy, as a result of fluid inflow to the knee, the lateral cyst increased in size, making it more perceptible at the lateral aspect of the knee. This finding confirmed that a fistula was connecting the knee joint to the lateral condyle; as noted in the previous MRI, this fistula was the origin of the cyst. No signs of septic arthritis were found. After knee arthroscopy, the operation proceeded with open surgery through a lateral approach using the previous surgical scarf from the crosspin removal surgery. The lateral cortex of the lateral femoral condyle was exposed. The hole at the cortical bone of the lateral aspect of the lateral femoral condyle, caused by the drilling carried out to introduce the crosspin used for femoral ACL graft fixation, persisted (Figure 3) with rounded soft tissue burn. At the lateral aspect of the femoral condyle, a cyst-like cavity was found. Once opened, it was filled with synovial fluid and no capsule or synovial tissue surrounded the cyst; however, it has dissected a cavity between bone cortical and deep muscular fascia. No signs of local infection were present. At the lateral end of the femoral tunnel, where the tunnel from the removed crosspin persisted, a burned bone was also noted. The bone tunnel end was surrounded with devitalized bone with negative paprika sign and sclerotic edges; bone edges and surrounding soft tissues were darkened due to burning during drilling. Owing to a small tunnel width of 10 mm, arthroscopic exploration introducing an arthroscope through the tunnel was not possible. The cyst was excised, and burned bone was refreshed until a bleeding marrow bone bed was obtained.\nThe bone tunnel was filled with autologous marrow bone graft before covering the cortical bone defect with local fascial flap. Postoperative course was uneventful and total recovery was achieved.\nThree years after the femoral tunnel revision surgery, the patient remained with full functional recovery and without any clinical symptoms, effusion, or pain recurrence.",
"gender": "Male"
}
] |
PMC7132354
|
[
{
"age": 33,
"case_id": "PMC5574252_01",
"case_text": "An otherwise healthy 33-year-old African American male with an 11-year history of progressive keratoconus underwent bilateral epithelium-on collagen crosslinking at an outside clinic. His pretreatment best corrected visual acuity was 20/30-1 OD and 20/30 OS. \nPer review of the records, crosslinking was performed in both eyes using an epithelium-on protocol. Riboflavin was instilled every 5 minutes, as was proparacaine every 10 minutes, for 90 minutes until saturation of the corneal stroma was noted using a hand light. Fractionation was performed at 15 seconds on and 15 seconds off of UV light at a 3.0 inch distance with an energy of 3.0 mW/cm2 (measured by an energy meter). There were no reported complications. The corneal epithelium was intact after the procedure. A bandage contact lens (BCTL) was placed over both eyes and the patient was prescribed moxifloxacin 0.5% QID OU for 1 week, bromfenac 0.07% QID OU for 1 week, and prednisolone acetate 1% QID OU over 4 weeks that would be tapered slowly. \nOn post-treatment day 4, the patient returned to the outside clinic complaining of severe pain OS starting the night before. There were new superficial corneal opacities, a hypopyon, and possible corneal perforation OS. A culture was performed, the BCTL was removed, bromfenac and prednisolone were discontinued OS and the patient was transferred to the Gavin Herbert Eye Institute (GHEI) for further care.\nWhen the patient arrived at GHEI his vision was 20/70 OD and hand motion (HM) OS. The left eye exhibited diffuse conjunctival injection, a diffuse corneal infiltrate with gross ectasia and perforation along with a diffuse hypopyon. The right eye appeared to be unaffected. An emergent penetrating keratoplasty (PKP) and anterior chamber washout was recommended. The transplantation and washout were performed without complication and the patient was started on prednisolone acetate 1% and moxifloxacin 0.5% QID OS and ordered to continue prednisolone acetate 1% QID OD and moxifloxacin 0.5% QID OD per the referring doctor.\nOn postoperative day one from the PKP OS, the patient complained about new pain, irritation, and decreased visual acuity OD as well. He was using all recommended medications as described above. His visual acuity was HM OD and 20/80 OS. The right eye conjunctiva was injected and its cornea had a new 5 mm central infiltrate with an equally sized epithelial defect, an apical bulge and new purulent discharge. All of these findings were felt to be consistent with impending perforation. The left was healing appropriately. There was no evidence of recurrent infection OS and his IOP measured 21 mmHg by Tonopen. Given that the patient had a new epithelial defect, infiltrate and impending corneal perforation, we recommended a penetrating keratoplasty OD. \nOn postoperative day one PKP OD, postoperative day two PKP OS, cultures returned from the first PKP OS showing many colonies of pan-resistant methicillin resistant Staphylococcus aureus (MRSA). The patient was recommended to undergo directed topical fortified vancomycin every 2 hours, topical trimethoprim/polymyxin B ointment every 2 hours OU, topical prednisolone acetate 1% QID OU, aggressive lubrication with nonpreserved artificial tears along with oral doxycycline and ascorbate. \nGiven the severity of the patient's course and no clear source for the MRSA, we recommended that the patient and his family be tested for MRSA, noting that his daughter had a tracheostomy. The patient later reported that he and his daughter wer positive for MRSA. He was given a course of trimethoprim/sulfamethoxazol (TMP/SMX) by his primary care physician.\nBy post-PKP month 3, his CDVA was 20/20 OU with a rigid gas permeable CTL. Specular microscopy showed healthy appearing endothelial cells bilaterally.",
"gender": "Male"
}
] |
PMC5574252
|
[
{
"age": 63,
"case_id": "PMC9294239_01",
"case_text": "A 63-year-old Japanese man presented to the referring hospital with a 1-month history of fever, back pain, and macroscopic hematuria. He had been undergoing hemodialysis for past 15 years for chronic kidney disease of unknown origin. Computed tomography (CT) showed a poorly enhanced tumor within the upper pole of the left kidney measuring 1.4 cm x 3.6 cm x 2.2 cm with multiple-lymph node involvement including para-aortic, retrocrural, and supraclavicular lymph nodes ( Figure 1 ). Metastasis to distant organ was not detected. A clinical diagnosis of RCC (cT3aN1M1) was made, and the patient was referred to our hospital for treatment.\nAs the patient was symptomatic from the local disease and was already on hemodialysis, radical nephrectomy and para-aortic lymph node biopsy were performed. The pathological characteristics of this case has already been published. Histologically, the tumor consisted of rhabdoid cells, with notable lymphocyte infiltration and large areas of necrosis. Immunohistochemically, the tumor was negative for SMARCB1, and PD-L1 expression was observed in 20% of cells ( Supplementary Data 1 ). All sampled lymph nodes were positive for malignancy. Because the patient had no evidence of sickle cell trait or sickle cell disease, he was diagnosed as having RCCU-MP (pT3a, pN1).\nOne month after nephrectomy, the baseline CT scan showed para-aortic lymph node measuring 40 mm x 30 mm, retrocrural lymph node measuring 27 mm x 19 mm, and left supraclavicular lymph node measuring 23 mm x 21 mm. We administered a combined immune checkpoint blockade therapy with nivolumab at a dose of 240 mg and ipilimumab at a dose of 1 mg/kg every 3 weeks as induction therapy for the management of residual lesions. After four cycles of induction therapy without grade 3 or 4 immune-related adverse events, follow-up CT revealed partial responses with a substantial decrease in the size of the affected lymph nodes ( Supplementary Data 2 ). The patient became afebrile, and his performance status evidently improved by the induction therapy. In addition, there was a significant reduction in serum C-reactive protein (CRP) levels.\nTaking the results into consideration, we considered induction therapy to be effective, and the patient continued maintenance therapy with nivolumab at a dose of 240 mg every 2 weeks. After 15 months of maintenance nivolumab therapy without disease progression, the patient presented with left lower limb edema because of left common and external iliac lymphadenopathy. Palliative radiation therapy at a dose of 50 Gy relieved the patient's symptoms.\nHowever, after 1 month, his blood test results showed abnormal liver function, and CT revealed obstructive jaundice requiring biliary drainage. We considered this situation as disease progression, discontinued nivolumab, and switched the therapy to chemotherapy consisting of carboplatin and paclitaxel. Chemotherapy was discontinued after two cycles due to declined performance status and side effects of myalgia. The patient received best supportive care and died 2 months later due to disease progression. The total time span between diagnosis and death was 28 months.\nTo explore the longitudinal change in the profile of circulating T lymphocytes during ICI treatment, we performed mass cytometry and multicolor flow cytometry analysis of PBMCs isolated from the patient's blood samples, which were obtained at three different time points: beginning, end of induction therapy, and when the disease had progressed. This analysis was conducted according to the protocol described by Kagamu et al..\nPBMC samples obtained before treatment and at the completion of induction therapy, when treatment response was evident, were subjected to mass cytometry. Mass cytometry data visualized using t-distributed stochastic neighbor embedding (t-SNE) technique revealed an apparent increase in stem cell memory and central memory CD8+ T cells expressing CD62L, CCR7, and CD27 ( Figure 2A ) . This finding was supported by multicolor flow cytometry analysis showing an increase in the proportion of central memory (CD45RA-CCR7+) and naive (CD45RA+CCR7+) CD8+ T cells after induction therapy, whereas the proportion of effector (CD45RA+CCR7-) and effector memory (CD45RA-CCR7-) CD8+ T cells decreased ( Supplementary Data 3A ). A similar increase in the stem-like population was also observed in CD4+ T cells ( Figure 2B ). Upon treatment resistance, the proportion of effector T cells increased significantly and the proportion of central memory and naive CD8+ T cells decreased ( Supplementary Data 3A ). Multicolor flow cytometry analysis also revealed that the population expressing exhaustion markers such as PD-1+, LAG-3+, and CTLA-4+ consistently increased upon treatment resistance across all CD8+ T cells and Th1 CD4+ cells ( Supplementary Data 3B ). In addition, the fraction of CD62LlowCD4+ T cells among total CD4+ T cells before treatment, a parameter previously reported to be associated with response to ICI in non-small cell lung cancer, was 39.6%, classifying the present case to the responder group.",
"gender": "Male"
}
] |
PMC9294239
|
[
{
"age": 73,
"case_id": "PMC2947750_01",
"case_text": "Case 1 features the left eye of a 73 year old white woman with a DPED that did not progress to either CGA or NV-AMD during 8 years of follow-up. As seen in this example (Fig. 3), eyes containing DPEDs, even in the absence of progression, can demonstrate marked changes in the size and distribution of large drusen and DPEDs. Although the overall prevalence of large drusen and hyperpigmentary changes are maintained throughout the period of observation (Fig. 2A, B), the exact location and configuration of these features in this example are seen to vary dynamically over time.\nCase 2 is an example of an eye with DPED that progressed to CGA during follow-up (Fig. 4). Progressive fundus changes in this example include an initial decrease and disappearance of the DPED, changes in the distribution of hyperpigmentary changes, and the emergence of patchy areas of hypopigmentation that subsequently progress and enlarge to form well-circumscribed areas of atrophy involving the center of the fovea.\nCase 3 illustrates the progression of an eye with DPED to neovascular AMD with the acute emergence of retinal edema, subretinal lipid, and recurrent subretinal hemorrhage (Fig. 5).",
"gender": "Female"
}
] |
PMC2947750
|
[
{
"age": 38,
"case_id": "PMC5846373_01",
"case_text": "A 38-year-old female with morbid obesity and chronic hypertension presented in her fourth pregnancy at 36 weeks of gestation with a 1-week history of mild headache, nausea, epigastric and right upper quadrant pain, and dark urine. The pain started gradually but was constant and sharp in nature. Upon physical examination, she was jaundiced. The abdominal exam was remarkable for hepatomegaly and a gravid uterus. The neurological exam was normal. The patient denied use of any hepatotoxic medications. Her labs were completely normal about three weeks earlier. Initial laboratory workup showed a leucocyte count of 12.0 x 109/L (70% neutrophils), platelet count of 450 x 109/L, hemoglobin of 11.5 g/dL, total bilirubin of 6.4 mg/dl (direct fraction 5.0 mg/dL), aspartate aminotransferase (AST) of 83 U/L, alanine aminotransferase (ALT) of 87 U/L, alkaline phosphatase (ALP) of 319 U/l, glucose of 66 mg/dL, LDH of 679 U/L, uric acid of 4.2 mg/dL, and total serum bile acids of 71 mumol/L (ref. 0-19 mumol). Prothrombin time was 17 seconds with an international normalized ratio (INR) of 1.4. Viral hepatitis serology, autoimmune marker, and ceruloplasmin test results were unremarkable. The urine protein-to-creatinine ratio was elevated with 24 hours of collection for urine protein, 1300 mg/day; her 24-hour urine protein was 180 mg/day prior to pregnancy. Ultrasonography showed marked hepatomegaly (~27 cm), fatty infiltration of the liver, and a right hepatic hypoechoic 2.8 cm mass (Figure 1). Moreover, the liver exhibited heterogenous echotexture along with areas of nodular contour. Given the patients' clinical presentation, biochemical profile, and imaging findings, the obstetricians suspected AFLP. The patient underwent delivery by Cesarean section; however, bilirubin and liver enzyme levels gradually increased after delivery. Magnetic resonance imaging (MRI) of the liver was obtained three days after delivery for further evaluation of the mass and worsening liver function (Figure 2). MRI showed a heterogeneous T2 hyperintense mass involving the majority of the left hepatic lobe, measuring approximately 11.2 x 9.2 x 5.8 cm. There was an additional similar, smaller lesion within the right hepatic lobe, measuring approximately 2.8 x 2.1 cm. There were additional satellite lesions within the left hepatic lobe. There was mild, diffuse intrahepatic biliary dilation. Serum tumor markers were obtained and showed elevated cancer antigen 19-9 (CA19-9) of >10,000 U/ml, CEA of 160.5 ng/mL (normal up to 5.20), and alpha-fetoprotein (AFP) of 1,135 ng/mL. US guided biopsy tissue obtained from the smaller right hepatic mass showed adenocarcinoma with an immunohistochemical profile consistent with cholangiocarcinoma. A CT scan of the chest showed multiple bilateral pulmonary nodules suspicious for metastasis. Total bilirubin started to increase gradually, up to 14.0 mg/dL. The patient underwent placement of percutaneous biliary drains with subsequent improvement of her total bilirubin to 4.0 mg/dL. She was then started on palliative chemotherapy with gemcitabine; however, this was complicated by recurrent episodes of cholangitis with multidrug-resistant organisms. She also developed progressive disease and peritoneal carcinomatosis and was subsequently transitioned into hospice care. She died around six months after her original presentation.",
"gender": "Female"
}
] |
PMC5846373
|
[
{
"age": 24,
"case_id": "PMC3135060_01",
"case_text": "An unmarried 24-year-old woman (gravida 4, para 4), who had not attended any antenatal care (ANC), presented to our hospital with a complaint of abdominal discomfort. In the patient's four previous births, the first and second children were delivered by full-term spontaneous deliveries at another hospital without ANC, and the third and fourth children were delivered at the patient's home without medical assistance. The mother and her children had not been diagnosed with syphilis. During the examination, the patient appeared healthy with a blood pressure of 118/81 mmHg, a pulse rate of 78 bpm, and a body temperature of 37.2 C. The gestational age was estimated by her last menstrual period to be approximately 31 weeks. Abdominal examination revealed a soft, nontender uterus. Ultrasound evaluation confirmed a single fetus in cephalic presentation with an estimated body weight of 1,500 g and no evidence of placental abruption. Vaginal examination showed the cervix to be 30% effaced and 2 cm dilated with an intact membrane. Laboratory findings revealed elevated white blood cell counts (11,670/muL) and C-reactive protein levels (1.63 mg/dL).\nFHR monitoring at the initial evaluation showed several early decelerations and bradycardia to 50 bpm for a one-minute period prior to recovery to normal baseline in association with a painless uterine contraction. The patient was immediately placed in the lateral position followed by the administration of oxygen via a face mask and a rapid intravenous infusion of fluid. The baseline variability was within a normal range. Twenty-five minutes later, another prolonged bradycardia to 70 bpm for a 7-minute period prior to recovery to normal baseline occurred without a uterine contraction. A decision was made to deliver immediately by cesarean section. Tocolysis was not performed during the course of treatment. A female neonate covered with a thick meconium weighing 1,423 g with Apgar scores of 2 and 8 at 1 and 5 minutes was delivered. Umbilical arterial pH was 7.28. After resuscitation, the neonate was transferred to the neonatal intensive care unit. The neonate was assessed to be 31 weeks at birth using the Dubowitz score and was diagnosed with an intrauterine infection. Routine investigations were performed to determine the nature of the infection. \nFollowing cesarean section, the mother was diagnosed with syphilis by a serological test. Congenital syphilis was confirmed by serology of the neonate: rapid plasma region 32x, Treponema pallidum hemagglutination 1280x, and a positive immunoglobulin fluorescent treponemal antibody-absorption test. Histopathological examination of the placenta, umbilical cord, and membranes revealed severe CAM and necrotizing funisitis; inflammatory cells could be seen on the surface of the cord and within Wharton jelly. Numerous T. pallidum were detected by IHC, which uses an antibody against T. pallidum (Figure 1). Both mother and neonate were treated with penicillin with good results. The neonate did not have any skin lesions or radiological bone changes and was discharged after 56 days with no evidence of sequela.",
"gender": "Female"
}
] |
PMC3135060
|
[
{
"age": 79,
"case_id": "PMC9285893_01",
"case_text": "The musicians (two females and one male, aged between 67 and 79 years old) have been part of the MNHB for 5-7 years and were considered to be at intermediate levels on their main instruments. Additional demographic information appears on Table 2.\nIt is important to mention that Conductor A, once the interviews were completed, joined the research team to contribute to the data analysis. While she was unaware (during the time she was conducting one of the virtual bands) that the transition from in-person rehearsals to virtual ones would become a specific focus for research within this context, her contribution to the analysis provided a valuable insider perspective and significantly enriched the credibility and trustworthiness of the analysis.\nThe virtual bands' rehearsals were recorded and made available to ensemble members during the semester. Permission to record was asked at the beginning of each semester and participants who felt uncomfortable being recorded were suggested to keep their camera off. Unlike regular in-person rehearsals, the majority of the online band rehearsals were held in a sectional format, with musicians being split into their instrument families (woodwinds; Brass and percussion). Full band rehearsals were held three times during the semester:one at the beginning, one approximately in the middle, and one at the end of the term. Typical rehearsals usually started with announcements (if needed) or a question period, which was followed by a brief warm-up done with the full band. While most of the time all musicians had to be muted to adequately hear the conductor's sound source, for warm-ups and slower chorale-like pieces, it was possible to have everyone unmute and play together. The ensemble was then separated into break-out rooms for sectionals or stayed together during full band rehearsals to work on pieces. Repertoire chosen for online music instruction were mostly flex band1 arrangements to allow more freedom regarding parts assignments. The rehearsal ended with a run-through of a piece (time permitting) or a question period. During rehearsals, musicians played along with either the conductor on keyboards or with recordings of the repertoire. Recordings were manipulated to be slower tempi using AudioTrimmer. Occasionally, musicians also received music theory and music history lessons during rehearsals. Both bands concluded their semesters with members individually recording themselves playing a selected piece to be put together for a \"virtual concert\" video (for more details on rehearsal structure, please refer to Supplementary Appendix 1).\nSemi-structured interviews were conducted in French or English, based on the mother tongue of participants, and lasted approximately 45 min. All interviews occurred in July 2021, during summer break, after the end of all online activities. Interviews were transcribed in their original language. French quotes that were selected for analysis were translated to facilitate interpretation using DeepL, checked for clarity by a researcher fluent in French, and validated by the research team. Quotes that were selected to be included in the analysis were then sent back to each participant individually, to ensure that the written transcriptions were a representative depiction of his/her thoughts and experience.\nThe format of the interview consisted of 13 open-ended questions (Supplementary Appendix 2) that addressed three themes: (1) intergenerational relationships, (2) digital literacy and access in later-life, and (3) online music-making in a pandemic context. The intent was to seek participants' perspectives in relation to these themes, with questions such as: \"You participated in a virtual ensemble that was intergenerational. Do you feel that this intergenerational context may have improved your learning experience? If so, how?\" (Theme 1); \"How can virtual music-making maximize equitable access in later-life to creative musical expression, engagement in learning, digital literacy and quality of life amongst older citizens?\" (Theme 2); or \"What implications has the shift to an online environment had for you as a musician (or teacher)? What new skills or resources have you had to develop, in response to opportunities or challenges raised by the pandemic?\" (Theme 3).\nFollowing the guidelines set out by, p. 83-85), theoretical thematic analysis was undertaken, meaning that data analysis was based on the researchers' specific areas of interest and focused on specific aspects of the data rather than the entire dataset. Analysis was undertaken primarily at the \"semantic\" (or explicit) level, establishing patterns between extracts, and then attempting to understand their significance and establish their broader meanings in an iterative process. A research assistant, in charge of coding the data, was supervised by the main researcher through the first stage of analysis. Afterward, a second researcher checked the coding process and contributed to its improvement. Codes were reorganized as needed, based on a deductive approach. Participants' perceptions of transitioning from in-person rehearsals to online rehearsals was examined from two perspectives: those of the teachers (adult band conductors) and those of the students (older adult band members). Results were combined to facilitate interpretation when trends were observed.",
"gender": "Female"
}
] |
PMC9285893
|
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