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{
"age": 78,
"case_id": "PMC3257067_01",
"case_text": "A 78-year-old woman was admitted to the emergency department in January 2008 because of fever and vomiting. In the preceding three days, she had noted asthenia and had fallen at home three times. Her past history included Crohn's disease treated by sulfasalazine and a beta-Lactam allergy. She also had congestive heart failure due to valvular disease and hypertension. She had not received influenza vaccine. Physical examination on admission revealed a temperature of 39 C. Her pulse rate was 110 beats per minute and her blood pressure was 150/60 mmHg. She had dyspnea with orthopnea, and her respiratory rate was 30 per minute. On auscultation, there were wheezing, rhonchi, and crepitations at the bases of both lungs. The remainder of the physical examination was unremarkable except for severe functional decline. Laboratory studies showed a white cell count of 14.600 x 109/L (with 12.900 x 109/L neutrophils), a C-reactive protein level of 154 mg/L and a B-type natriuretic peptide of 770 ng/L. Arterial blood gases on room air were pH 7.34, pO2 67 mmHg, pCO2 37 mmHg, and O2 saturation of 90%. Blood and urine cultures were negative. A chest x-ray showed bilateral pulmonary infiltrates. It was concluded that the patient had congestive heart failure and acute febrile illness without localizing symptoms. Therapy was initiated with oxygen, diuretics, and intravenous erythromycin.\nOver the two next days, the patient remained febrile (38.5 C) despite antibiotic treatment and had abdominal pain. She had no signs of severe sepsis or circulatory failure. She had a blood pressure of 150/70 mmHg, pulse rate of 88 beats per minute, respiratory rate of 22 per minute, and O2 saturation of 93% on room air. On chest examination, there were persistent rhonchi with cough which produced white sputum. The remainder of the examination was unremarkable. Her white count cell was 8.100 x 109/L (6.900 x 109/L neutrophils) and the C-reactive protein level was 275 mg/L. A chest x-ray showed right basal consolidation. Urinary antigen tests for Streptococcus pneumoniae and Legionella pneumophila serogroup 1 were negative. Abdominal echography was performed and was within normal limits. It was finally concluded that the patient had pneumonia with persistent fever despite antibiotics. Antibiotic cover was extended to include ofloxacin and the patient was admitted the following day to our acute geriatric ward. On admission, her temperature was 38 C and chest examination was the same as described earlier. Sputum for viral examination was collected because the patient had a productive cough, but bacteriologic examination was not performed due to antibiotics. A rapid detection test on sputum by direct fluorescent antibody assay was positive for influenza A in a few hours, with confirmation a few days later by culture. The patient's condition deteriorated on the same day and she succumbed to fatal respiratory distress syndrome.",
"gender": "Female"
}
] |
PMC3257067
|
[
{
"age": 11,
"case_id": "PMC9261228_01",
"case_text": "An 11-year-old female patient presented to the pediatric department with complaints of nausea, vomiting, and right lumbar pain lasting for 1 week, without previous symptoms and no history of trauma.\nOn physical examination, the following was noted: The weight was 82 kg and body mass index (BMI) of 27.0 kg/m2 (above 95th percentile on the CDC (Centers for Disease Control and Prevention) age- and sex-matched BMI growth charts), active striae and acanthosis on the inner thighs; Tanner pubertal stage 4+, with menarche starting 6 months prior the admission. The blood pressure was measured routinely and was within normal range.\nThe initial laboratory hormonal analysis and tumor markers aimed to identify hormonal activity by the tumor or possible malignancy (Table 1). The results did not reveal any deviation from the normal values.\nThe computer tomography images showed a well-defined capsulated retroperitoneal extrarenal oval lesion with heterogeneous cystic structure measuring 7.5 x 8.5 cm, native HU 5 to 95 without change after contrast enhancement (Fig. 1).\nUltrasound guided fine-needle aspiration biopsy was performed and a pig-tail drainage was placed due to the cystic appearance of the formation and the lack of certain diagnosis from the non-invasive diagnostic test. Cytological examination revealed a monomorphic population of cells with loose-textured cytoplasm and central lymphocytic-like cores with small nucleoli around a multitude of erythrocytes. No signs of cellular and nuclear atypism were observed. The drain discharged 80 ml of hemorrhagic fluid in the first 24 h and after being inactive in the next 24 h it was removed. The diagnosis of benign endothelial cyst with spontaneous hemorrhage was suggested due to imaging data suggesting a cystic lesion, the hemorrhagic characteristics of the drained fluid and the cytology analysis. The patient was observed for two days and discharged with no complains, normal vital signs and no significant change in the blood cell count. The hormonal status was to be evaluated on follow-up.\nTwo months later further increase in patients BMI to 30.2 kg/m2 was observed. Striae and inner thighs acanthosis remained. Additional hormonal laboratory tests ruled out adrenal pathology (Table 2). The elevated 24 h urine cortisol was related to obesity.\nAbdominal ultrasound and magnetic resonance imaging (MRI) were performed and demonstrated decrease of the cyst dimensions to 52 x 50 mm (Fig. 2). The patient was scheduled for elective surgery, but due to the COVID-19 pandemics and cancellation of elective surgical procedures on national scale, the treatment was postponed.\nThe patient underwent surgery 3 months after the initial hospitalization. Despite the initial plan to perform cystectomy, the intimate adhesion of the lesion to the adrenal gland and vena cava inferior necessitated en-bloc adrenalectomy to prevent spillage of the cyst content (Fig. 3). The specimen was extracted with an EndoBag.\nNo postoperative adverse events and complications were registered and the patient was discharged on the fourth postoperative day.\nThe gross pathological description was of a lesion with dimensions 50 x 42 x 43 mm. The tumor appeared black-brown with a shining surface due to its cellular pigmentation (Fig. 4).\nThe pathomorphological description was of a tumor formation with fibrous capsule composed of drained Schwann-like cells with fasciculation, vesicular nuclei with relatively small nucleoli visualized, mitosis 6/10 high-power field (HPF), with varying amount of melanin pigment in single and groups of cells. Connective tissue stroma separated tumor cell aggregates with an abundance of psammoma bodies (calcium deposits) and foci of necrosis and hemorrhage in the tumor parenchyma. The adrenal gland was intact with no tumor infiltration (Fig. 5).\nThe markers S100 protein, melan-A and melanosome clone HMB45 had high-intensity expression in the tumor. Individual cells expressed inhibin alpha, Chromogranin A and Ki 67 to about 10 to 15% (Fig. 6).\nThe findings were conclusive of malignant psammomatous melanotic schwannoma. The main histological differential diagnosis is malignant melanoma, which shares common features such as melanin synthesis and positive staining for melanocytic markers.\nThe patient was followed up on the 1st and 2nd month afterwards the surgery by MRI with no signs of local recurrence and postoperative complications.",
"gender": "Female"
}
] |
PMC9261228
|
[
{
"age": 30,
"case_id": "PMC8437380_01",
"case_text": "A 30-year-old female presented to our hospital on December 4, 2017 due to a 4-month-old mass on her left breast. She did not complain of pain, dizziness, headache, or any other discomfort, and did not report any relevant family history. Physical examination revealed a palpable mass, 6x5 cm in size, at 3 o'clock on the left breast. No enlarged lymph nodes were palpable in the armpit. Ultrasound light scattering breast examination revealed a hypoechoic nodule, approximately 3.68x2.77 cm in size, in the outer quadrant of the left areola and an areola with indistinct borders. Multiple, enlarged, left axillary lymph nodes were also observed and the tumor was graded as 4C according to the breast imaging reporting and data system (BI-RADS). No obvious abnormalities were observed in the right breast. A needle biopsy of the mass in the left breast was performed on December 18, 2017 and pathological analysis revealed that it was an invasive carcinoma (non-special type III) (Figure 1) that was HER-2 2+, ER 10%, PR 5%, Ki-67 30%, and FISH test positive. Therefore, further whole body assessment was performed, and computed tomography (CT) scans of the chest and head (Figure 2A) revealed a mass with abnormal density or shadows in both breasts, with bilateral multiple enlarged axillary lymph nodes and circular low-density plaques with a diameter of about 3 cm in the right frontal lobe. Moreover, because head magnetic resonance imaging (MRI) (Figure 2B) showed that the right frontal lobe was abnormally enhanced and occupied, the possibility of metastasis was considered based on her medical history.Further, needle biopsy of the tumor on the right breast and pathological test results revealed the absence of cancerous tissue. Other related tests such as bone scan and abdominal CT did not reveal any remarkable results. Based on the above observations, she was diagnosed with HER-2 positive breast cancer (left) according to the eighth edition of the American Cancer Society (AJCC) standard diagnosis. Meanwhile, the cancer was staged as T3N2M1 stage IV. As the patient was young and had no history of childbirth, Goserelin (3.6 mg, subcutaneous injection) was immediately initiated with a 28-day cycle. She also underwent four cycles of AC (cyclophosphamide + pirarubicin) chemotherapy on January 6 and 28, and February 10 and 26, 2018. Next, she was administered three cycles of TH (trastuzumab + docetaxel) chemotherapy on March 14, April 7, and April 29, 2018, along with antiemetic, white blood cell elevators, and other comprehensive treatments. Chemotherapy progressed without complications, and after seven cycles of chemotherapy, the mass in the upper outer quadrant of the left breast was found to be significantly smaller than before (2 x 1 cm) upon physical examination. CT scans of the chest (Figure 2C) suggested that the axillary lymph nodes and abnormal mass in the left breast had reduced in size. The patient underwent a modified radical mastectomy for left breast cancer on May 15, 2018, in the breast surgery department of our hospital and evaluation of resected tissue (Figure 3) showed an invasive carcinoma (non-special type, grade III). Immunohistochemically, the tissue was typed as ER 20%, PR 10%, HER-2 (2+ -3+), and Ki-67 40%, and no FISH test performed. HP (Trastuzumab + Pertuzumab) regimen targeted therapy was given on May 24, 2018 and tamoxifen 20 mg, once a day, was prescribed as endocrine therapy from July 2018 onwards. Radiation therapy was initiated on July 28, 2018, and the sites were left chest wall, left upper and lower clavicle, and left axilla. PTV was set at DT5000cGy/25f with a dose separation of 200 cGy/session, five times a week. The patient complained of headaches, mostly located on the right side, with intermittent dull pain in October 2018, and MRI of the head showed no change in abnormal enhancement of the right frontal lobe. Therefore, she was transferred to the neurosurgery department of our hospital and an intracranial mass was resected on October 23, 2018. Postoperative analysis of the resected tissue (Figure 4) showed that the tumor cells were small sized, arranged tightly, and localized, with significant proliferation of small blood vessels. Immunohistochemically, the tissue was ckp (-), GFAP (3+), Ki-67 (<5%), p53 (-). Morphology and immunohistochemistry supported glial cell proliferation, consistent with a localized glioma (WHO Grade I). The patient was regularly followed-up after surgery and her condition remained stable during this period. Further, during follow-up consultation on May 6, 2020, she did not complain of dizziness or headache. However, a repeat head MRI showed (Figure 2D) that the right frontal lobe was abnormally enhanced and that it was slightly larger than before. Therefore, a frontal lobe tumor resection was performed again in the neurosurgery department on May 14, 2020. Postoperative examination of the tissue (Figure 5) showed that the tumor cells were extremely diverse, ie, they were oval, fusiform, or star-shaped, and both sparse or dense with some having less cytoplasm and others having more. Some tumor cells were atypical, a few had large and darkly stained nuclei with visible nucleoli and occasional mitotic structures, while others showed hypertrophy or an offset nucleus, or were rich in cytoplasm or interstitial blood vessels. However, no clear necrosis was seen. Immunohistochemically the resected tissue was S-100 (3+), sox10 (mildly +), Ki-67 (5%, local 5-10%), p53 (mildly +), CD34 (vascular endothelium +), ckp (-), GFAP (small part +), and NSE (-), and when combined with morphology, these findings supported a diagnosis of diffuse astrocytoma (WHO grade II). CT imaging of the chest and abdomen performed (Figure 2E) at follow-up on November 23, 2020 revealed expected postoperative changes in the left breast with no obvious abnormal masses or shadows. However, an abnormally enhanced shadow, approximately 20x20 mm in size, was observed on the liver (S6 segment). Given the patient's disease progression, liver metastasis was diagnosed and she underwent two cycles of chemotherapy with pyrotinib and capecitabine. Repeat chest and abdominal CT performed on January 13, 2021 showed abnormal enhancement and enlargement of the right lobe of the liver. Hence, two cycles of TPH (trastuzumab + docetaxel + cisplatin) chemotherapy were administered on January 22, 2021 and February 17, 2021. A whole abdomen enhanced CT on March 11, 2021, revealed (Figure 2F) that the abnormal enhancement of the lobe was about 35x26 mm in size and larger than that seen previously. A liver biopsy was performed and pathology reported (Figure 6) that the tissue was relatively fragmented with little liver tissue seen in some areas. The tumor tissue was composed of short spindle or oval cells arranged in diffuse sheets with abundant blood vessels and a small amount of chronic inflammatory cell infiltration. Immunohistochemically the tissue was ckp (-), Her-2 (-), vimentin (+), Ki-67 (15%), SMA (-), Desmin (-), CD34 (vascular +), CD31 (vascular +), Hepatocyte (-), GPC-3 (-), CK19 (-), HMB45 (+), Melan-A (+), GFAP (-), sox10 (-), S-100 (-), GATA- 3 (-), ER (-), PR (-), and CD117 (focal 1+); therefore, a vascular tumor was suspected and the patient was transferred to the General Surgery Department of our hospital, where she underwent laparoscopic resection of the liver lesions on March 24, 2021. No tumor tissue was seen at the resection margin of the liver and the patient recovered well after surgery. Postoperative pathological report (Figure 7) described the liver structure as destroyed with unclear tumor tissue boundaries and no capsules. Tumor cells were spindle shaped with visible pathological mitoses and the nucleus was fusiform or polygonal with an increase in both cell number and volume. The ratio of nucleoplasm was also greater with more megakaryocytes and strange nuclei that were arranged in strips or were diffuse. Additionally, infiltrating growth, bleeding, and small lamellar necrosis, tissue congestion, edema, and lymphocyte infiltration were visible. The tissue was immunohistochemically characterized as Desmin (-), H-caldesmon (-), D2-40 (-), NSE (-), inhibitor-alpha (-), Syn (-), ckp (-), EMA (-), CD31 (vascular +), CD34 (vascular +), fli-1 (vascular +), ERG (vascular +), Ki-67 (10%), p53 (-), S-100 (-), Melan-A (+), HMB45 (-), CD117 (-), Hepatocyte (liver cell +), and CD68 (histocyte +). Morphological and immunohistochemical results were consistent with a malignant perivascular epithelioid cell tumor (PEComa). After discharge from the hospital, goserelin once/28 days and letrozole 2.5 mg once/day were prescribed for treatment. The patient has been currently instructed to undergo chest and abdominal CT and head MRI every 3 months. At present, the patient's overall condition is good and she remains stable However, she refused to undergo genetic testing owing to economic reasons.",
"gender": "Female"
}
] |
PMC8437380
|
[
{
"age": 2,
"case_id": "PMC3687645_01",
"case_text": "Allgrove syndrome, also known as triple A syndrome (OMIM #231550), is a rare autosomal recessive disorder characterized by the triad of adrenocorticotropic hormone (ACTH)-resistant adrenal insufficiency, achalasia and alacrima. It is caused by mutations of the AAAS gene, which is located on chromosome 12q13, encoding the WD-repeat protein ALADIN (alacrima-achalasia-adrenal insufficiency neurologic disorder). Herein, we present a case of a two-year-old girl with a genetically confirmed diagnosis of Allgrove syndrome resulting from a novel homozygous mutation of the AAAS gene.",
"gender": "Female"
},
{
"age": 2,
"case_id": "PMC3687645_02",
"case_text": "The patient is a two-year-old Japanese girl born from consanguineous parents. She was born at term after an uncomplicated pregnancy. There was a consistent history of alacrima since birth. At the age of two years, she presented with generalized tonic-clonic seizure with hypoglycemia (<20 mg/dl) and IV glucose infusion was initiated. However, she had no history of gastrointestinal problems. On admission, hyperpigmentation was observed on her lips, tongue and skin. Her speech and motor development were slightly delayed. Laboratory examinations revealed markedly elevated plasma ACTH (1,160 pg/ml), low serum cortisol (<1.1 mug/dl), low serum dehydroepiandrosterone sulfate (DHEA-S) (<2 mug/dl), normal rennin activity (8.6 ng/ml), slightly low plasma aldosterone (21.4 pg/ml) and normal serum electrolyte levels (serum sodium 140 mmol/l, serum potassium 4.2 mmol/l, serum chloride 107 mmol/l). A rapid ACTH test revealed ACTH insensitivity (Table 1). Hydrocortisone replacement therapy was therefore started. Barium esophagography was unremarkable at this time. Although she had just two main features of ACTH-resistant adrenal insufficiency and alacrima, Allgrove syndrome was suspected. Institutional review board approval for AAAS gene analysis was obtained from the National Research Institute for Child Health and Development. Blood samples from the patient and her parents were collected after informed consent. Sequencing analysis of the AAAS gene was then performed, and a novel homozygous mutation was identified in our patient, involving the first base of the donor splice site of IVS7 (IVS7+1 G>A) (Fig. 1). Her parents were heterozygous for the same mutation. A few months after the diagnosis was established, she was noted to vomit intermittently up to several times a day. Considering her genetic diagnosis and symptom, we again performed esophagography and manometry on her. Measurement of esophageal pressures showed the pattern of achalasia.",
"gender": "Female"
}
] |
PMC3687645
|
[
{
"age": 57,
"case_id": "PMC8168796_01",
"case_text": "This 57-year-old man was referred for a 2-month history of progressive development of imbalance, dizziness, and vomiting. On examination, he presented with wide-based gait, uncoordinated limb movements, and nystagmus on extreme gaze. Radiological investigations disclosed two bilateral hemispheric cerebellar lesions, suggestive of metastases [Figure 1]. On April 2020, he was then admitted to the C. Besta Neurological Institute (Milan, Italy), which was appointed as reference center for the treatment of neurooncological patients from other departments in Lombardy during the COVID-19 emergency period. In line with our triage protocol, the patient performed a nasopharyngeal swab for viral RNA of SARS-CoV-2 detection with reverse transcription-polymerase chain reaction (RT-PCR) by Allplex 2019-nCoV Assay (Seegene Inc., Seoul, Korea) for amplification of RdRP, N and E genes. The test was positive and SARS-CoV-2 infection was confirmed. The patient had a history of family exposure (the two daughters tested positive) and reported in the previous month only hyposmia and hypogeusia without rhinorrhea or nasal obstruction, which had resolved at the time of admission. Blood tests at admission revealed no significant abnormalities. A chest computed tomography (CT) reported a left pulmonary lesion suggestive of tumor in the absence of inflammatory changes [Figure 2]. According to our classification of urgency in category A+, meaning patients with intracranial tumors with mass effect or with progressive neurological deficit, without deterioration of consciousness, for which treatment is deferred for up to 10 days, two swabs were resampled after 7 days and both were still positive. Considering the neurological and radiological stability, it was established to perform three new swabs after a period of 7 days with negative results, leading the way to surgery. The two cerebellar lesions were then surgically removed with a pathological result of pulmonary adenocarcinoma metastases. In the early post-operative period, the patient manifested acute onset of psychotic symptoms with hyperactive delirium. He was admitted to the intensive care unit, and antipsychotic therapy was administered with quetiapine (up to 1 g/day); chlorpromazine and sedation with propofol and dexmedetomidine until control of the neuropsychiatric picture were obtained. Four days after surgery, the patient suddenly developed fever (up to 38.5 C) and acute respiratory failure. Another chest CT scan disclosed a radiological pattern of ground-glass opacities in the lower lobes bilaterally, suggesting a viral pneumonia [Figure 2]. Laboratory findings revealed an increased inflammatory response with higher white blood cell counts (15.94 x 109/L), higher neutrophil counts (14.54 x 109/L), lower lymphocyte counts (0.79 x 109/L), lower platelet count (66 x 109/L), increased D-dimer (1.77 mg/L), and C-reactive protein (229.8 mg/L) levels. Serological tests were performed using LIAISON SARSCoV-2 S1/S2 IgG kit (Diasorin S.p.A, Saluggia, Italy), an indirect chemiluminescent immunoassay serology test for detecting IgG antibodies against S1/S2 antigens. An antibody level of 133 kAU/L was found (positive: >15.0 kAU/L). The RT-PCR on a nasopharyngeal swab was negative. Under the strong radiological and laboratory suspicion of pneumonia from COVID-19, a new RT-PCR was performed after 72 h which confirmed SARS-CoV-2 infection. Oxygen therapy with alternating cycles of high-flow nasal cannula and low-flow venturi mask was administered until full recovery.",
"gender": "Male"
}
] |
PMC8168796
|
[
{
"age": 14,
"case_id": "PMC7262964_01",
"case_text": "We identified a Chinese family with HSAN (Figure 1A). The proband (II:1) was admitted to the Department of Orthopedics, Xiangya Hospital of Central South University, for an ulcer near the left ankle and diagnosed with HSAN. The proband was a 14-year-old boy with an identical twin brother (II:2). They were born at term via cesarean section. The height and weight of the proband were 145 cm (<3%) and 26.5 kg (<3%), respectively, without any growth hormone imbalances, and his brother was 150 cm (<3%) tall, and weighed 29.0 kg (<3%), suggesting that they had growth retardation (without hormonal abnormalities).\nThe proband had severely impaired pain sensitivity (Table 1). He consistently could not perceive noxious thermal/gelid stimuli or innocuous warm stimuli, which had resulted in the ankle ulcer and necrosis of the astragalus (Figures 1B,C). A nerve conduction study revealed peripheral nerve damage in the extremities, especially of the sensory nerves (Supplementary Table 2). The proband had moderate scoliosis (with a Cobb angle of 33 ) without centrum malformation (Figure 1D). The younger brother also exhibited HSAN, but his condition was clearly milder. The brothers presented with arthrogryposes of the fingers, foot extroversion, knee recurvation deformities, and myasthenia; hence, they achieved independent ambulation at 3 years of age (Figures 1E,F). The proband had thin blue scleras and corneal ulcers and was subsequently diagnosed with a cataract (Figure 1G). He also displays urinary incontinence. Furthermore, the proband was diagnosed with vascular structure abnormalities via centesis at 18 months of age. Their parents (I:1 and I:2) were unaffected.\nAfter filtering the common variants from the 1000 Genomes Project, YH, ExAC, dbSNP132, and ESP databases, 571 unique SNPs were detected in the proband. The variants were filtered against 18 genes known to be involved in HSAN (Supplementary Table 1), and a set of three variants in two genes were identified in the proband (Table 2). By analyzing the bioinformatic predictions, inheritance patterns, OMIM clinical phenotypes, and American College of Medical Genetics classification (Richards et al.,) of these three genes, we strongly suspected that variants in DST (c.3304G>A, p.V1102I and c.13796G>A, p.R4599H) were the causative genetic variants in these patients.\nSanger sequencing showed that the DST variant (c.3304G>A, p.V1102I) in the identical twins was inherited from their mother and the other (c.13796G>A, p.R4599H) was inherited from their father (Figures 2A,B). This finding indicates that the compound heterozygosity co-segregated within the affected family members. Neither variant was identified in the 200 control cohorts previously studied by our group. The amino acid sequence alignment analysis suggested that these two variants were both located in a highly evolutionarily conserved site (Figures 2C,D).\nBy sequencing the peripheral blood RNA from I:2, II:1, and II:2 and excluding immunity-related proteins, we detected the down-regulated expression of ANKRD22, ICAM1/3, and BIRC5 in the HSAN-VI patients, suggesting changes in cell adhesion and the cytoskeleton, which is in accordance with the expectation that DST variants can alter cytoskeletal filament networks (Figure 2E and Supplementary Figure 1). However, we did not observe any change in DST expression by RNAseq or qPCR (Figure 2E).",
"gender": "Male"
}
] |
PMC7262964
|
[
{
"age": 5,
"case_id": "PMC6388523_01",
"case_text": "A five-year-old Caucasian male was referred to us with a two-year history of blurry vision and headaches; he had previously been evaluated by two ophthalmologists who diagnosed LHON. Our initial exam was on 24 October 2016. On exam, BCVA with Cycloplegic refraction were OD = -0.75-0.25 x 120 = 20/100, and OS = -0.50-0.50 x 70 = 20/100. Stereopsis was 400 seconds of arc. No relative afferent pupillary defect was noted. Intraocular pressure was 16 mmHg in both eyes. Pachymetry were 520/520 in both eyes.\nOn fundus exam, he had 3-4+ optic disc pallor with 0.75 cupping. Macular OCT showed extensive macular thinning with normal structure [Figure 1a]. Ganglion cell layer (GCL) OCT revealed nearly complete GCL loss including central loss OU [Figures 1b and c]. This GCL loss was responsible for macular thinning. Three-dimensional OCT of the optic disc showed optic atrophy and our Pattern 4 IIH, 75% specific for IICP [Figure 1d]. In Pattern 4 IIH, there remains a hint of temporal wings, secondary to cerebrospinal fluid in the temporal retina. The average nerve fiber layer (ANFL) were 66 microns OD and 54 microns OS. Using a technique we have previously described, we measured 400 microns of papilledema in the right eye and 560 microns in the left eye on OCT. Our routine optic neuropathy workup for adults was performed. Vitamin D level was low and treated while Vitamin B12 levels were normal (678). Tests for collagen vascular disease, parathyroid hormone and Lyme disease were negative. Genetic tests for mutations in the DNA of mitochondria that are associated with LHON, including MT-ND1, MT-ND4, MT-ND4L, and MT-ND6 genes, were sent to another laboratory. Interestingly, 85% of females and 50% of males with these mutated genes never show signs of LHON.\nBrain MRI was considered normal by radiologist. However, in one axial cut, we interpreted more than 2 mm of CSF in the optic nerve near the globe [Figures 2a and c] and a small hygroma, which is very unusual at a young age and may be a sign of increased ICP [Figure 2b]. With a tentative diagnosis of PTC, the patient was referred to a neurologist for a spinal tap. The opening intracranial pressure in lateral decubitus position was 180 mm-H2O (normal range in children is up to 210 mm-H2O).\nAlthough this pressure was not considered high in recent reference intervals, other clinical signs were compatible with IIH, and there was no risk in initiating treatment with acetazolamide (125 mg PO QID). Two months later, the boy's headaches were completely absent and his BCVA had improved to 20/30 in each eye. At a four-month follow up, BCVA was stable at 20/30 per eye and stereopsis had improved to 80 seconds of arc. Repeat OCT of the macula showed consistent thinning as before [Figure 3a]. OCT of GCL showed improvement in GCL with a central opening, explaining the improved visual acuity in both eyes [Figures 3b and c]. On optic nerve OCT, ANFL decreased to 40 microns OD and 44 microns OS [Figure 3d].\nExactly one year later, VA and OCTs [Figure 4] were stable, despite some increase in ANFL from the original improvement seen after four months of treatment, and some non-significant thickening of macula and thus increased GCL. Stereopsis improved to 50 seconds of arc. The patient remained on 125 mg Diamox (acetazolamide) PO QID.\nConflict of Interest Statement: The authors have no conflict of interest in this article.",
"gender": "Male"
}
] |
PMC6388523
|
[
{
"age": 22,
"case_id": "PMC7283137_01",
"case_text": "A 22 year old, previously healthy female presented with dull pain and swelling of her left ankle for five years. Although initially she had relief with analgesics, subsequently did not respond and associated with swelling over the left ankle which affected her daily work and sleep. There were no pustules or sinuses with granules at this stage. She did not have fever, loss of appetite or loss of weight and denied of previous traumatic injury to the affected site.\nBasic investigations, X ray, ESR and full blood count, were within normal range. Her symptoms did not improve with the initial management with analgesics and she was further evaluated radiologically with the clinical suspicion of malignancy of bone or soft tissue. The MRI findings of the left ankle showed multiple linear and rounded lesions in the left calcaneous. The lesions showed a contrast enhancing center with a hypointense rim. There was hypointense dot noted at the centre of the lesion in T2 weighted image giving rise to \"dot in circle sign\" (Fig. 1: MRI of the left ankle showing \"dot in circle sign\"). Cortical erosions noted in the superior, posterior and the lateral aspect of the calcaneous. There was no sinus tract to the skin. The rest of the tarsal bone and distal tibia and fibula were normal. All the above radiological features were suggestive for maduromycosis of the foot.\nWith the radiological supportive evidence of maduromycosis, a punch biopsy of the skin was obtained and sent for mycological evaluation. Although both direct smear and culture were negative, she was started with oral itraconazole 200 mg twice daily and cotrimoxazole. It appeared to be responding and she was informed to continue the antimicrobials further. However, after about 4 months, she noted reappearing of throbbing pain and few pustular lesions over the affected area. These pustules subsequently ruptured and secreted clear fluid containing black dots. With the new clinical picture, a repeat biopsy was obtained for fungal studies. The direct smear of the biopsy with 10 % KOH revealed septate fungal filaments.\nAfter 2 weeks, a scanty growth of filamentous fungi was seen in the Sabouraud Dextrose agar incubated in 26 C and 37 C. The obverse view of the colony was yellowish brown with wooly consistency. Reddish brown pigment was diffusing in to the medium. The lactophenol cotton blue mount of the growth revealed sterile dense melanized mycelia. No sporulation was noted. The slide culture also showed sterile mycelium. Based on above characteristics the diagnosis of M. mycetomatis was made.\nOral itraconazole (200 mg twice daily) and terbinafine (250 mg daily) were started and continued for 7 months while monitoring liver functions. Her symptoms subsided gradually so that itraconazole dose was reduced up to 100 mg twice daily. After 16 months from the starting therapy, she was free from pain, swelling and discharging sinuses and she is being followed up at the clinic.",
"gender": "Female"
}
] |
PMC7283137
|
[
{
"age": 16,
"case_id": "PMC3938365_01",
"case_text": "Case 1: 16-year-old male, with asymptomatic periumbilical lesions since his first years of life, progressing in number and size for the last 3 years. He presented right hypoacusia, tingling in hands and feet and burning plantar pain, which worsened with hot weather and physical activity.\nAt the dermatological exam he presented erythematous-violaceous papules of keratotic surface, grouped on the upper limbs, paravertebral, paraumbilical, inguinal, scrotum and penile regions, right thigh and knees (Figure 1). In the ophthalmological investigation the diagnosis was cornea verticillata (Figure 2). He presented hearing deficit in the right ear at audiometry. In complementary exams, he showed high 24hours proteinuria (0.14; VR < 0.05); remaining exams were normal (blood count, renal function, microalbuminuria, ECG, spirometry and cranial magnetic resonance imaging-MRI). The deficiency of alpha-Gal activity was confirmed in the plasma (0.0 umol/h of protein; > 2.5) and leukocytes through paper filter (0.16 nmol / h / mg of protein; > 1.4). The biopy of umbilical lesion resulted compatible with angiokeratoma (Figure 3).\n Case 2: an 11-year-old boy presented burning pains in the lower limbs, which worsened with hot weather, although less intensively than in his brother's case (Case 1). During examination angiokeratomas were noticed, limited to the periumbilical region. He presented cornea verticillata, while the audiometry and other laboratory, electrocardiographic and imaging exams were normal. Enzyme alpha- Gal A deficiency was observed in the plasma and leukocytes (plasma: 0.11 umol/h; leukocytes: 0.46 nmol/mg/h).\n Case 3: a 39-year-old female, mother of patients 1 and 2, presented with mild acroparestesia and cornea verticillata, without skin lesions. Audiometry revealed diminished hearing in the right ear and slight loss in the left, discrete proteinuria (0.09) and microalbuminuria (20.93 VR < 20 ). Normal blood count, renal function, ESR, ECG and cranial MRI. Dosage of alpha-Gal A activity in the plasma was within normal range (3.02 umol/h).\nGenotyping of the 3 patients revealed a similar mutation: Exon 7 Arg 342 Gln. In the two-year followup, patient 1 presented worsening of lower limb pains and microangiopathy was detected in cranial MRI. Patient 2 started presenting proteinuria and increase of angiokeratomas in size, number and distribution. The mother remained stable. The three patients still have not started enzyme replacement due to family decision of postponing the beginning of treatment.",
"gender": "Male"
}
] |
PMC3938365
|
[
{
"age": 15,
"case_id": "PMC6005296_01",
"case_text": "A 15-year-old Argentinian Warmblood gelding was referred for treatment of a long-standing penile lesion affected by myiasis.\nAt referral the main complaint was a florid, cauliflower-like ulcerated mass, measuring 10 cm in diameter that enclosed the glans penis together with penile urethra (Figure 1) with malodorous purulent and blood-stained discharge together with areas of necrosis. The mass was infested by muscae spp. larvae. Poor body condition score (BCS 4/9) and strangury were also present.\nOnce penis prolapse was obtained by intravenous administration with acepromazine 30 mug/kg, palpation of the penis revealed a diffuse thickening of the penile shaft with multiple ulcerations involving the inner and outer laminae of the preputial fold. Due to the regional anatomical alterations related to the mass (phlegmon and oedema), inguinal lymph nodes were not palpable. For the same reason ultrasonographic examination of external genitalia and regional lymph nodes was not conclusive. Transrectal examination was unremarkable.\nUrine analysis revealed the presence of leukocytes and nitrites, consistent with urinary tract inflammation. As the clinical condition of the horse and the primary lesion were severe, suggesting complete excision in any case, fine needle aspiration or excisional biopsies were not attempted; therefore surgical removal was combined with harvesting material for histopathological examination.\nBased on clinical findings differential diagnoses were SCC of the penis and prepuce and/or habronemiasis. Due to the infiltrating pattern and the diffusion of the disorder and to the presence of multiple nonhealing lesions, leading, respectively, to difficulty at micturition and local infection, an en bloc resection of the penis and prepuce was decided; the eventuality of a penile retroversion or a permanent perineal urethrostomy was considered according to the intraoperatory findings and the degree of infiltration of the penis body. Systemic NSAIDS (flunixin meglumine, 1.1. mg/kg i.v. q24 h) and antibiotic (sulfadiazine-trimethoprim, 30 kg/kg p.o. q24 h) therapies were initiated before surgery.\nSurgery was performed under general anaesthesia with isoflurane with the horse in dorsal recumbence. For the en bloc resection, a fusiform 40 cm long skin incision starting at the umbilicus was made along the midline. It extended caudally encircling the preputial orifice. Blunt dissection of subcutaneous tissue was performed around the penis until the abdominal fascia was reached and the body of the penis was released from its anatomic and vascular connections. Haemorrhage was controlled with electrocauterization and ligation of the major vessels (dorsal penis arteries and veins). The dissection plane was extended to both the external inguinal rings and the external pudendal arteries and vein were ligated. The superficial inguinal lymph nodes appeared enlarged and therefore were excised. At palpation the penile body was extensively thickened suggesting amputation as proximal as possible: so penile retroversion was excluded and perineal urethrostomy was performed. To this aim, a tourniquet was applied proximally to the shaft of the penis and an extensive resection was performed close to the ischiatic arch, dividing the suspensory ligament of penis. The proximal stump showed a normal macroscopic appearance and was sutured with double transfixing sutures (2 USP absorbable multifilament) placed through the penile body in a dorsoventral direction, to obtain adequate haemostasis. Once urethral lumen was clearly visible a urinary catheter was placed. The outer perimeter of the tunica albuginea was apposed in a simple interrupted pattern with a 2/0 USP monofilament absorbable suture.\nFor permanent urethrostomy a 8 cm skin incision was created on the perineal raphe starting about 7-8 cm below the anus, ending at the level of the ischiatic arch. Blunt dissection of subcutis, penis retractor muscles, and bulbospongiosus muscles was achieved until the urethra was visualized. The penis retractor muscles were sutured to the subcutis in a simple continuous pattern, using a 0 USP monofilament absorbable material. Then the urethral wall was incised longitudinally for about 6 cm and the mucosa sutured to the skin in a simple interrupted pattern with a 2/0 USP monofilament nonabsorbable material.\nThe subcutis of the abdominal wound was sutured with a 0 USP monofilament absorbable suture material in a simple continuous pattern and the skin was sutured with metallic staples. A multitubular drain was applied laterally to the midline to the abdominal wall suture at the scrotal region (Figure 2).\nAfter recovery from anaesthesia the horse showed a moderate haemorrhage from the urethrostomy, which was particularly evident at the end of urination, leading after 48 h to a marked reduction of PCV (15%) and TP (4,5 g/dL). As the haemorrhage seemed to come from the corpus spongiosum penis and surgical haemostasis was not feasible, it was successfully managed by the administration of tranexamic acid (15 mg/kg i.v. q12 h) for 2 days. Oral support with vitamin B complex and folic and pantothenic acid was given for 10 days until PCV and TP reached, respectively, 30% and 6.8 g/dL.\nStrangury but not pollakiuria was observed 3 days after surgery.\nThree days after surgery, the horse showed a serosanguineous collection above the abdominal wound and a moderate purulent discharge from the skin incision that were managed with daily manual massage and local disinfection. Five days after surgery, the urinary catheter and the multitubular drain were removed without complications.\nOn day 12 standing surgical revision of the urethrostomy was required to remove some necrotic urethral mucosa leading to a partial dehiscence of the wound.\nHistopathology of the lesions confirmed the presumptive diagnosis of SCC of the penis and prepuce invading the subcutaneous tissue, not the albuginea. Lymphocytic and neutrophilic infiltration of the corpus cavernosum suggested chronic balanitis; moderate subcutaneous eosinophilic infiltration was also detected but no evidence of Habronema spp. infestation was found. The margins of the excised tissues were free of neoplastic cells, and the regional lymph nodes were inflamed but not affected by the neoplastic process.\nAfter skin staples removal 14 days after surgery, the horse was discharged. Urination was unremarkable from the perineal stoma. No urine scalding or subcutaneous infiltration could be observed. PCV and TP values were back to preoperatory values.\nA clinical follow-up performed 2 months after surgery revealed reduction of the urethrostomy to a diameter of about 1.5/2 cm. Anyhow urination was unaffected with a mare attitude and no urine scalding was detected.\nA 3-year follow-up showed no recurrence of the neoplasm with normal urination. Urethrostomy did not show any further stricture as well as no urine scalding (Figure 3).",
"gender": "Unknown"
}
] |
PMC6005296
|
[
{
"age": 39,
"case_id": "PMC4397223_01",
"case_text": "A 39-year-old female patient complained of one-day-lasting episodes of linear-shaped pain in her right hemicranium. In the past few months she had been suffering from paroxysms of severe pain lasting 5-10 seconds, starting in the posterior parietal area of the right hemicranium and rapidly moving with a lineal trajectory to the internal canthus of the ipsilateral eye. As a rule, once the pain reached the eye, lacrimation ensued. The frequency ranged from 1 to 3 paroxysms daily, in the symptomatic days (2-3/week). In between attacks, the patient felt a continuous, moderate pain, confined to the territory where the motion was perceived. The patient clearly delineated the painful lineal area in her head and could finely draw it, thus giving a definite impression of the localization of such an interictal pain.\nWang Y et al. described headaches with pain episodes localized in a line-shaped area of one hemicranium. Topographically, this description parallels that of our patient. However, the patients of Wang Y et al. did not report moving paroxysms. More evidences are needed before we can decipher the nosologic position of linear headaches, but as far as Epicrania Fugax is concerned, its clinical features may rarely include a linear interictal pain that may even become the main complaint.",
"gender": "Female"
}
] |
PMC4397223
|
[
{
"age": 15,
"case_id": "PMC4253035_01",
"case_text": "A 15-year-old female presented to an outpatient headache clinic with a 10-year history of intractable headache, which had become daily over the past 3 months and also awakened her in the middle of the night. She noted the pain was frontal and radiated to her neck. She had migrainous characteristics including photophobia, phonophobia, nausea, vomiting but denied visual changes, numbness, tingling weakness, or focal deficits. She complained of three migraine headaches a week while the other days she described a tension type headache, which consisted of pain only. She did complain of dizziness, which typically occurred upon standing.\nHer daily habits included at least 8-9 h of sleep during the school week but she reported nighttime awakenings, daytime sleepiness, and sleeping more hours on the weekends. She drank occasional caffeine and ate three regular meals a day.\nShe had a history of syncope, joint, and back pain over the past 2-3 years and had evaluations in cardiology and rheumatology. Rheumatology diagnosed her with hypermobility of her joints. Cardiology diagnosed her with vasovagal syncope and she was placed on a hyperhydration protocol. She had a history of a minute patent foramen ovale, which had undergone spontaneous closure per a recent echocardiogram. She had plain films of her cervical, thoracic, and lumbar spine, which were unremarkable. She also reported easy bruising and occasional bleeding of her gums with oral hygiene. Recent labwork, including a complete blood count (CBC/diff), was unremarkable.\nThere was a strong family history of mental health disorders. The patient had previously been referred to a psychiatrist and was subsequently diagnosed with depression and anxiety but medication intervention had not yet been initiated.\nThe patient had a history of developmental delay and she did not walk independently until 2 years of age. She is now developmentally appropriate and is an A/B/C student in the 8th grade.\nOn general exam, she showed elasticity of her skin, joint laxity of her extremities but no atrophic scarring. Her neurological examination was unremarkable.\nDue to a recent history of increased headache frequency and awakening in the middle of the night with headache, she underwent an magnetic resonance imaging (MRI) brain that was unremarkable. She also revealed a history of snoring, nighttime awakenings, and daytime sleepiness. A polysomnography was ordered and demonstrated mild obstructive sleep apnea.\nShe had an appointment to see psychiatry and discuss medication intervention for her depression and anxiety. Often, treatment of underlying depression and anxiety can help alleviate headache, thus, it was agreed that medication intervention for headache be deferred and a trial of Mg was started.\nGiven the above history, she was referred to Genetics and, based on history and examination, the diagnosis of mild classic EDS was confirmed. Recommendations included hydrotherapy to strengthen muscles, Vitamin C and maintenance of good hydration. Genetics also noted and discussed with parents that if surgical intervention were to be considered for her apnea, she would need to be closely monitored due to an increased risk for postoperative bleeding.",
"gender": "Female"
}
] |
PMC4253035
|
[
{
"age": 13,
"case_id": "PMC6077650_01",
"case_text": "Our patient is a 19 yo G1P0 with an unplanned pregnancy, who was seen for the 1st time at 20+4 weeks, with syncope and right sided chest pain. Pulmonary embolism was confirmed on a spiral CT scan.\nPrior to the current pregnancy, she had an extensive history of emergency room (ER) visits and pediatric intensive care unit admissions for recurrent cellulitis and septic shock secondary to lymphedema. She had been noncompliant with oral suppressive antibiotics. She had also developed toxic shock syndrome secondary to Group A streptococcal cellulitis and had multiple debridements with skin grafts as a result of necrotising fasciitis. Compounding her risk of infections was her picking behavior secondary to anxiety.\nShe had required ECMO (extracorporeal membrane oxygenation) for severe biventricular dysfunction from presumed septic cardiomyopathy; peritoneal hemodialysis for acute renal failure and multiple episodes of mechanical ventilation and aggressive vasopressor inotropic support.\nSeven months prior to her pregnancy diagnosis, she had a bladder rupture and peritonitis after self-insertion of a pen into her urethra, requiring laparotomy. Numerous large venous bleeders were encountered in the subcutaneous tissue related to her known KTW syndrome.\nShe was also smoking about half to one pack of cigarettes and multiple joints of marijuana since the age of 13 years. Her overall social situation was tenuous with limited resources for food, housing, family support, and a borderline personality disorder.\nAt the time of presentation, her resting heart rate was 110/min and increased to 160/min on standing. On examination, she had an extremely large port wine stain extending from the right flank to midthigh with superficial excoriations (Figure 1(a)). Bilateral significant lymphedema to the lower extremities was noted. The toes were enlarged to about 5 cm in width and were overlapping with each other (Figure 1(b)). Over her abdomen she had a midline laparotomy scar that had healed along with multiple other scars from the debridements (Figure 1(c)). Her gait was abnormal, secondary to the severe scoliosis.\nShe was started on therapeutic enoxaparin, with the dose being adjusted on the basis of the antifactor Xa levels (goal of 0.5-1.0). Her syncope was attributed to the significant lymphedema and venous varicosities in the lower extremities, along with the consumption of very high-glucose containing fluids (juice and pop) resulting in osmotic diuresis. She also had an ECHO done which demonstrated low left ventricular function. Her compliance as an outpatient for taking heparin and antibiotics was poor. The decision was made, therefore, to keep her as an inpatient until delivery from about 24 weeks, which greatly improved her nutrition and compliance, as all medications were given under nursing supervision.\nShe was seen by psychiatry and social work while in the hospital. She was counselled by prenatal genetics but declined testing for herself or on her newborn.\nAn MRI of the abdomen and pelvis performed revealed marked hemihypertrophy of the subcutaneous soft tissues on the right side at the level of the lower abdomen (Figure 2(a)); pelvis and buttock and thigh region (Figure 2(b)), which contain innumerable venous vascular malformations and varicosities. No increase in vascularity was noted in perineal or uterine area. These changes were consistent with KTW syndrome.\nThe MRI of the spine revealed marked levoconvex scoliosis with a marked leftward pelvic tilt. A developmentally narrow spinal canal was noted. Numerous venous channels were noted to cross at the potential epidural injection sites from L1 to L5. The thickness from the skin to the thecal space was 9.4 cm (Figure 2(c)). No intracranial or intraspinal vascular malformations were noted. Once the MRI was completed, anesthesiology was consulted. Their recommendation was for extreme caution for neuroaxial anesthesia and if to be given to be performed above the level of L1. Given the increased risk of disseminated intravascular coagulation (DIC), several units of blood were to be cross-matched with two large bore intravenous access. Consideration for the use of cell-saver and the availability of a Trauma Pak if bleeding was a concern was proposed.\nSerial scans on the fetus demonstrated as decrease in growth and along with a persistent breech presentation. A decision was made for an elective caesarian section at 37+3 weeks, given the intrauterine growth restriction with abnormal Doppler in a breech presentation. A multidisciplinary discussion between general surgery, neonatology, anesthesia, internal medicine, and nursing was arranged.\nEnoxaparin was discontinued 24 hours prior to the elected time of the C-section. Four units of packed red blood cells had been placed in the OR in the event that there was a need to transfuse the patient. General anesthesia under fiber optic visualization was administrated. A midline vertical incision was made. Extensive varicosities were then found in the subcutaneous tissues closer to the level of the pelvis, which were ligated. The incision was extended superiorly to be away from the varicosities. The uterus was found to be bicornuate, which explained the breech presentation of the fetus. The neonate was at the 10th %ile for growth. No obvious stigmata of KTW syndrome were noted at the time of birth.",
"gender": "Female"
},
{
"age": null,
"case_id": "PMC6077650_02",
"case_text": "The patient had been counselled regarding the placement of a MIRENA IUD in the uterus at the end of the C-section for a reliable form of contraception. However, she declined contraception. She was discharged on Day# 3 with transition on to warfarin for six months. Unfortunately, given the limited compliance, she had another pulmonary embolism four months after delivery.",
"gender": "Female"
}
] |
PMC6077650
|
[
{
"age": 67,
"case_id": "PMC10174457_01",
"case_text": "A 67-year-old woman with a history of rhinitis and coblation of the nasal turbinates presented to the emergency department for recurrent epistaxis and pain after a traumatic COVID-19 nasal swab test (see Figure 1 for timeline).\nOn fiberoptic nasopharyngoscopy, a dark polypoid lesion was visualized between the middle and inferior left turbinates. Biopsy was performed and final pathology reported a heavily pigmented malignant melanoma involving the nasal mucosa, positive for S100 protein. Maxillofacial CT scan without contrast showed an abnormal soft tissue density in the left nasal cavity extending into the proximal upper left maxillary sinus and obstructing the left ostiomeatal complex. On metastatic workup, PET/CT revealed an FDG-avid right middle lobe lung nodule. The patient underwent bronchoscopy with fine needle aspiration (FNA) of the nodule. Pathology reported typical carcinoid, a finding managed separately and irrelevant to this discussion. After negative metastatic workup, the patient underwent mapping biopsies and nasal/sinus endoscopic tumor debulking. During resection, the tumor was found to extend along the nasal floor from the inferior meatus to the level of the inferior nasal septum, with pigmented mucosal changes involving the lateral aspect of the nasal vestibule, the superior aspect of the nasal septum extending onto the skull base, and the area of attachment of the middle turbinate. Pathology of the fragmented resection specimen confirmed SNMM. PD-L1 immunohistochemistry returned as high expression, intensity 3+, and tumor proportion score (TPS) >= 50%. The consensus recommendation at the multidisciplinary tumor board was to initiate ImT (nivolumab) and RT, to be followed by ImT (nivolumab) alone. The patient received nivolumab monotherapy (480 mg on a q4 week schedule) with concurrent intensity modulated (IM) RT to a total dose of 60 Gy in 20 fractions targeting the left nasal cavity. The patient tolerated ImT/RT well and went on to receive three cycles of adjuvant nivolumab as scheduled. However, nasal endoscopy and interval MRI identified local disease progression. Anti-CTLA-4 (Ipilimumab) was added to the ImT regimen with a plan for four cycles. After Cycle 1, the patient developed elevated liver enzymes (AST 289 U/L, ALT 301 U/L, and alkaline phosphatase 156 U/L), attributed to ImT-induced autoimmune hepatitis. ImT was discontinued and the patient was treated with intravenous solumedrol 150 mg followed by an extended course of prednisone (total duration, 30 days). Interval PET/CT showed no evidence of metastatic disease and the patient was followed closely in the clinic with radiographic surveillance. A repeat maxillofacial CT showed an increase in the size of the nodular enhancing soft tissue mass in the left posterior nasal cavity, and CT abdomen with contrast revealed a new 3.3-cm hypoenhancing liver lesion in segment 5, consistent with metastasis. CT biopsy of the liver lesion confirmed metastatic malignant melanoma. PET/CT showed rapid progression of numerous metastatic lesions within liver segments 2, 5, and 8, with the segment 5 lesion growing from 3 to 10 cm over 2 months. PET/CT also identified new FDG-avid lesions in thoracic, lumbar, and sacral vertebrae (T9, T12, L3, and S1) highly suspicious for spinal metastases.\nAfter progression through two courses of ImT, the patient was presented again at tumor board and recommended to restart ImT with Opdualag (dual anti-PD-1 nivolumab combined with anti-LAG-3 relatlimab), and was referred to radiation oncology for concurrent stereotactic ablative radiotherapy (SBRT) of the dominant hepatic lesion. The patient received the first cycle of Opdualag with a concomitant course of SBRT, delivering 50 Gy in five fractions to the segment 5 liver tumor. SBRT was performed on a hybrid magnetic resonance/linear accelerator (MR/Linac) platform using MR-guided online adaptive radiotherapy (MRgOART) ( Figure 2 ). \nAfter the second cycle of Opdualag, the patient developed severe keratoconjunctivitis with corneal ulcerations. The patient had a history of ImT-induced hepatitis, and systemic therapy was discontinued out of concern for another severe ImT-related adverse event (irAE). Interval PET/CT 3 months after SBRT showed a CMR with no suspicious hypermetabolic activity within the surgical cavity and complete resolution of all FDG-avid lesions in the liver (including unirradiated ones) and axial spine where hypermetabolism had previously been identified ( Figure 3 ).\nCT chest, abdomen, and pelvis 3 months after SBRT demonstrated a decrease in the size of all liver lesions, with the segment 5 lesion measuring 2 cm in maximum diameter down from 10 cm. Six months after SBRT, the patient's treatment response persisted despite discontinuation of all therapy for 4 months.",
"gender": "Female"
}
] |
PMC10174457
|
[
{
"age": 50,
"case_id": "PMC3884199_01",
"case_text": "A 50-year-old woman was referred to our hospital for treatment of a duodenal tumor. She had a 13-year history of left nephrectomy for RCC. The histologic diagnosis was clear cell carcinoma of grade 2, pT2N0M0, and pStage II (according to the current TNM staging of the Union for International Cancer Control, 7th edition). The postoperative course was uneventful, and no adjuvant therapy was administered.\nThree years after nephrectomy, the patient underwent external beam radiation therapy (a total of 46 Gy) for a solitary metastatic bone tumor in the seventh thoracic vertebra. A further 7 years later, a solitary metastatic tumor was detected in the tail of the pancreas, and resection of the pancreatic tail and spleen was performed. Since the histologic findings of the pancreatic tumor were similar to those of the kidney, metachronous metastasis of RCC to the tail of the pancreas was assumed. A further 3 years after resection of the pancreatic tail, severe anemia was detected during a regular examination. The patient mentioned the presence of persistent tarry stools for 3-4 weeks. Esophagogastroduodenoscopy (EGD) was performed and revealed a mass in the descending portion of the duodenum.\nThe patient was admitted to our hospital and underwent detailed examinations. Her hemoglobin level was 7.5 g/dl. A subsequent EGD revealed an ulcerated polypoid mass in the descending portion of the duodenum; the mass was adjacent to the oral side, but did not involve the papilla of Vater (fig. 1a). Endoscopic ultrasonography showed the tumor to be partially invading the head of the pancreas (fig. 1b). Duodenography revealed a protruding lesion at the wall of the pancreatic side of the descending portion of the duodenum (fig. 1c). Abdominal enhanced computed tomography depicted a well-contrasted, hypervascular mass (fig. 1d). Magnifying endoscopy showed a diminished mucosal surface pattern of the gastrointestinal epithelium across the surface of the tumor (fig. 1e). Furthermore, combined with narrow-band imaging (NBI), it also showed a highly dense assembly of microvessels on the surface of the tumor that did not form a capillary network pattern (fig. 1f). A duodenal biopsy was performed, and the histopathologic diagnosis was inflammatory granulation with no malignancy. An additional duodenal biopsy for histologic confirmation was not performed to avoid uncontrollable duodenal bleeding from the biopsy site. Although partial resection of the pancreas had already been performed for a metastatic tumor of the pancreatic tail, the remnant pancreas was of rich volume (fig. 1d). There was no evidence of metastasis to the lung, liver, lymph nodes or other organs. Enterography showed no abnormal findings suggestive of metastasis to the small intestine. Fluorodeoxyglucose (FDG)-positron emission tomography showed specific FDG uptake in the duodenal tumor (standardized uptake value [SUVmax] 6.1). No abnormally enhanced lesions were identified in the body. The levels of both carcinoembryonic antigen and carbohydrate antigen 19-9 were within normal ranges. Resultantly, our diagnosis was metachronous, solitary duodenal metastasis derived from RCC, and we therefore performed a pancreaticoduodenectomy.\nThere were no findings of malignant ascites, carcinomatosis, omental implants or distant metastases to other abdominal organs; we therefore subsequently performed a subtotal, stomach-preserving pancreaticoduodenectomy, choledochojejunostomy, pancreaticojejunostomy, and gastrojejunostomy with preservation of the left gastric artery and vein to maintain the supply and drainage blood flow to the stomach after splenectomy. The pancreas was dissected just above the portal vein. Regional lymph node dissection was minimized.\nMacroscopic findings of the resected specimen indicated that the polypoid mass at the descending portion of the duodenum was ulcerative and friable (fig. 2a). Histologic findings revealed that the surface of the tumor was coated by granulation tissue consisting of inflammatory cells, fibrosis and edematous stroma (fig. 2b). Furthermore, the cancerous lesion comprised clear cells containing glycogen that were arranged in an alveolar pattern (fig. 2c). The tumor had invaded the duodenal muscle and partially invaded the pancreas at a depth of 2 mm. Although the tumor was located very close to the lower common bile duct and main pancreatic duct, histologic direct invasion was not observed in either duct. Immunohistology showed that the tumor cells were positive for vimentin and CD10 and negative for CK7 (fig. 2d-f). The histologic diagnosis was metastatic RCC.\nThe patient experienced postoperative leakage from the gastrojejunostomy. After percutaneous drainage of the intra-abdominal abscess, she recovered and was discharged on postoperative day 59. One year after surgery, the patient maintained a good glucose tolerance and received only oral hypoglycemic agents and no insulin therapy. Furthermore, she had no evidence of re-bleeding or recurrence of RCC.",
"gender": "Female"
}
] |
PMC3884199
|
[
{
"age": 29,
"case_id": "PMC8282370_01",
"case_text": "The neonate was born to a 29-year-old G2P1 + 0 who attended antenatal care 6 times, starting at 3 months. She had been screened for HIV, syphilis, hepatitis B, and urinalysis, and all were negative, with a blood group of A Rhesus D negative. She received tetanus toxoid, Fansidar for malaria prophylaxis, haematinics, and deworming. She reported that the pregnancy was uneventful.\nAbout 36 hours after delivery, the neonate developed a high-grade fever, irritability, poor breastfeeding, and yellowing of eyes and skin. The neonate was managed with unknown oral medication before referral to Jinja Regional Referral Hospital for further management.\nAt admission, the neonate was conscious, with an axillary temperature of 38.0 C, and jaundice (Kramer stage 2). There was no respiratory distress, no pallor, no dehydration, and no dysmorphic features noted. The systemic physical examination was unremarkable.\nMalaria rapid diagnostic test (MRDT) for P. falciparum was positive; thin blood smear showed P. falciparum malaria species with 1.846*103 malaria-infected red blood cells.\nComplete blood count was normal with Hb of 15.2 g/dl, white blood cells 11.79*103/ul, and platelet count 244*103/ul.\nBlood group was A Rhesus D negative.\nTotal serum bilirubin was 200.33 umol/l with direct bilirubin 7.48 umol/l.\nThe rapid diagnostic test for P. falciparum was negative, and no haemoparasites were seen on the peripheral smear of maternal blood.\nInvestigations done were as follows:\nThe neonate was initiated on intravenous artesunate at admission, 12 hr and 24 hr later, then once a day for 5 days. Intravenous empiric antibiotics (cloxacillin and cefotaxime) for presumed neonatal sepsis were also administered. After 48 hours of antibiotics, C-reactive protein (CRP) was done and it was nonreactive, and the antibiotics were stopped. Blood culture and sensitivity was not performed for this patient. A peripheral blood smear done on day 5 of antimalarial treatment revealed no malaria parasites. The neonate was discharged after 5 days of artesunate with great improvement. We were not able to follow up the patient after discharge.",
"gender": "Female"
}
] |
PMC8282370
|
[
{
"age": 22,
"case_id": "PMC4664549_01",
"case_text": "A 22-year-old white female patient reported the diagnosis of RP that she had 7 years before. Having gone through many examinations along this period, 1 year ago, it was diagnosed increased intraocular pressure (IOP) in the right eye (OD). The patient had misused hypotensive eye drops: prostaglandin analogs, carbonic anhydrase inhibitors, and B-adrenergic antagonists. She had interrupted the use of eye drops for 3 months. There was no family history of either RP or glaucoma. No ethical approval was required for this procedure. Patient consent was obtained before undergoing treatment.\nIn the ophthalmic examination, the best-corrected visual acuity was OD: 20/50 (-1,00 cyl x115) and left eye (OS): 20/25 (+2,00 sph -1,00 cyl x10). The slit lamp examination showed multiple iris holes and corectopia in OD (Figures 1 and 2), clear cornea in both eyes (OU), and no alterations in OS. IOP by Goldmann applanation tonometry was OD: 34 mmHg and OS: 16 mmHg at 3 pm. The gonioscopy revealed 360 isolated peripheral anterior synechiae in OD (Figure 3) and a visible open-angle up to ciliary body in OS. The fundoscopy (Figures 4 and 5) presented cup-disc ratio 0.9 vertical (V) x0.9 horizontal (H), visible lamina cribrosa pores, preserved macula, and peripheral pigment mobilization in OD. In OS, the fundoscopy revealed cup-disc ratio 0.3 V x0.3 H, preserved macula, and peripheral pigment mobilization. The automated perimetry (Figures 6 and 7) and manual perimetry (Figures 8 and 9) showed central island vision in OD and ring scotoma in OS. The ultrasound pachymetry was 524 microm and 530 microm in OD and OS, respectively. The specular microscopy revealed pleomorphism and polymegathism in OU (Figures 10 and 11). Fluorescein angiography featured blocked fluorescence in the peripheral pigment mobilization areas in OU.\nAfter failure of the clinical treatment to diminish IOP in OD, trabeculectomy was performed in this eye and IOP was controlled.",
"gender": "Female"
}
] |
PMC4664549
|
[
{
"age": 80,
"case_id": "PMC9608240_01",
"case_text": "A pleasant 80-year-old female with hypertension, atrial fibrillation, hypothyroidism, chronic low back pain, and chronic hyponatremia presented to our hospital with nausea, fatigue, and generalized weakness for 3 days. She reported taking salt tablets periodically for chronic hyponatremia. Previously, her serum sodium levels ranged between 128 and 133 mEq/L; a month ago, her sodium level was 129 mEq/L (reference range: 135-145 mEq/L). Two days before hospitalization, she completed 3 days of outpatient treatment for urinary tract infection (UTI) using oral TMP-SMX (160/800 mg, 1 tablet twice daily). Her home medications included spironolactone 25 mg once daily, gabapentin 200 mg twice daily, amiodarone 200 mg once daily, aspirin 81 mg once daily, losartan 50 mg once daily, levothyroxine 25 microg once daily, apixaban 5 mg twice daily, and hydrocodone/acetaminophen four times daily as needed. She denied headaches, syncope, paresthesia, seizures, abdominal pain, vomiting, constipation, or diarrhea. A detailed review of her other systems was unremarkable. On examination, her blood pressure (BP) was 188/80, heart rate (HR) 80/min, respiration rate (RR) 16/min, Spo2 95% on room air (RA), and temperature 36.8 C. She was awake, alert, oriented, and seated comfortably in bed. Her oral mucosa was moist; she had no focal neurological deficits; her breath sounds were clear with no crepitation or wheezes; her heart sounds were regular with no murmur; her abdomen was soft with normoactive bowel sounds, and her extremities were warm and perfused without edema. Her routine blood test showed sodium of 111 mEq/L (reference range: 135-145), serum osmolality 230 mOsm/kg (reference range: 275-295), potassium 5.1 mEq/L (reference range: 3.5-5), chloride 77 mEq/L (reference range: 96-106), bicarbonate 18 mEq/L (baseline 24 mEq/L, reference range: 21-32), anion gap 16 (reference range: 8-12), BUN 14 mg/dL (baseline 12-14 mg/dL, reference range: 8-23), creatinine 1.0 mg/dL (baseline 1-1.10 mg/dL, reference range: 0.2-0.7), glucose 127 mg/dL (reference range: 70-115), calcium 9.7 mg/dL (reference range: 8.6-10.2), albumin 4.1 gm/dL (reference range: 3.5-5.2), random cortisol 22 microg/dL (reference range: 5-20), TSH 14.5 uIU/mL (reference range: 0.34-4.8), and uric acid 2.4 mg/dL (reference range: 3.4-7). Her urine studies revealed sodium of 99 mEq/L and urine osmolality of 354 mOsm/kg.\nAn initial working diagnosis was hyponatremia caused by TMP-SMX-induced natriuresis. She was started on IV normal saline (0.9% NS) with close monitoring of her serum sodium. Her serum sodium initially increased to 116 mEq/L; however, after receiving close to 2.5 L, it decreased to 112 mEq/L. At this point, we limited her 24-h oral fluid intake to 1000 ml and started her on sodium chloride tablets, 1 gm four times daily. Fluid restriction and salt supplements gradually improved her symptoms and sodium level. She was discharged on the fifth hospital day with restricted fluid intake (1000 mL daily), oral sodium chloride tablets, 1 gm four times daily, and close outpatient follow-up. At discharge, her serum sodium was 128 mEq/L, potassium 4.4 mEq/L, bicarbonate 23 mEq/L, BUN 15 mg/dL, creatinine 0.9 mg/dL with a normal anion gap of 11. Her diagnosis was hyponatremia due to TMP-SMX-induced SIADH.",
"gender": "Female"
}
] |
PMC9608240
|
[
{
"age": 52,
"case_id": "PMC4322374_01",
"case_text": "A 52-year-old male was referred for evaluation of atypical chest discomfort after strenuous exercise and occasional stabbing pain in the left thorax not associated with physical activity. The patient exercised daily and he had competed in 39 marathons without any chest symptoms. He had familial hypercholesterolemia but no history of diabetes, hypertension, or smoking. The patient had discontinued cholesterol-lowering medication. The patient's blood pressure, electrocardiogram, and echocardiogram were normal. Total cholesterol and low density lipoprotein were 7.1 and 5.5 mmol/L, respectively. Due to the uncharacteristic nature of the patient's symptoms, a CCTA was performed. The calcium score was 140 and CCTA revealed calcified and noncalcified coronary atherosclerosis with a mixed, stenotic plaque in the mid left anterior descending coronary artery (LAD) [Figure 1]. Functional testing was scheduled with a rest-stress Rubidium-82 myocardial perfusion scan. Myocardial perfusion and coronary flow reserve were normal during adequate stress response to adenosine (140 mug/kg/min) [Figure 2]. Atorvastatin was prescribed and the patient continued his high level of daily physical activity.\nOne year later, following strenuous running, the patient sustained a cardiac arrest. Cardiopulmonary resuscitation was started immediately with successful electrical cardioversion of ventricular fibrillation and return of spontaneous circulation 6 min after the alarm. The electrocardiogram showed ST-elevation [Figure 3]. Acute invasive angiography revealed occlusion of the mid-LAD. Normal coronary flow was restored after recanalization and stenting [Figure 4]. Ten days later, transthoracic echocardiography showed left ventricular ejection fraction of 40-45% with apical hypokinesis. The patient was advised cardiac rehabilitation.\nAs a blind study, we submitted the patient's CCTA data, which had been obtained one year earlier and had revealed a highly significant ischemia-producing lesion in the mid-LAD, for FFRCT analysis [Figure 5]. FFRCT analysis was performed at HeartFlow (Redwood City, CA, USA) utilizing updated proprietary software. Computation of noninvasive FFRCT from CCTA image data requires a physiologic model of coronary blood flow. The physiologic model is based on three underlying principles as described in detail by Taylor et al.,: (i) The total resting coronary blood flow can be quantified relative to the myocardial mass, (ii) The microcirculatory vascular resistance at rest is inversely proportional to the size of the coronary arteries supplying the myocardium, and (iii) The vasodilatory response of the coronary microcirculation to adenosine infusion can be predicted, allowing computational modeling of the maximal hyperemic state. The integration of the model of coronary physiology to 3-dimensional computational models allows computation of coronary flow and pressure at each point in the coronary arteries under hyperemic conditions.",
"gender": "Male"
}
] |
PMC4322374
|
[
{
"age": null,
"case_id": "PMC7102445_01",
"case_text": "In our case, a 35-year married female presented to emergency services with the complaint of bleeding per vagina and the feeling of something inside the vagina for 15 months. She used to have per vaginal bleeding with clots in one- to two-week interval which lasts for two to five days (no separate recognizable menstrual cycle). In between intermenstrual bleeding, she had a watery discharge from the vagina without any foul smell or per vaginal itch. Regarding per vaginal mass, she used to feel mass occasionally which stays inside the vaginal canal, never came out of introitus. There were postcoital bleeding and generalized weakness with no shortness of breath, palpitation, gum bleed, or rashes. She underwent minilaparotomy for permanent sterilization eleven years back and had recanalization done five years back. She delivered three children vaginally which were all home deliveries assisted by neighbors; last childbirth was twelve years back. During these fifteen months, she visited different health institutes where she was investigated for reasons of bleeding including coagulation profile, ultrasonography of the pelvis (all were normal), and prescribed progesterone, tranexamic acid, mefenamic acid, and treatment for vaginal discharge syndrome which could not help much to improve her problems.\nOn examination, she was well built, pale with vital signs within normal limits. The abdomen was soft and nontender. On bimanual per vaginal examination, approximately 6 x 4 cm firm globular mass was felt within the vaginal canal, separate cervical os could not be appreciated, the uterus could not be palpated, and there was active per vaginal bleeding.",
"gender": "Female"
},
{
"age": null,
"case_id": "PMC7102445_02",
"case_text": "On investigation, her hemoglobin was 5.3 gm% and platelets and PT/INR were within the normal range. Ultrasonography (Figure 1) done by the radiologist in another center and at our center was reported normal. MRI could not be done as it was not available at our center and the patient needs to travel five to six hours for this, with so much of continuing per vaginal bleeding. Also, she did not afford the cost of an MRI. So, we decided to go for surgery without an MRI.",
"gender": "Female"
},
{
"age": null,
"case_id": "PMC7102445_03",
"case_text": "She was resuscitated with intravenous fluid, and two units of whole blood as packed red blood cell were not available at the center. Ultrasonography was repeated in the preoperative room which was again unable to differentiate whether it was fibroid polyp or uterine inversion. She was planned for emergency operation with a provisional diagnosis of chronic inversion of uterus secondary to submucosal fibroid uterus (arising from fundus) with differential diagnosis of fibroid polyp. Haultain's procedure was planned. Foley's catheterization was done. With all standard precautions, the abdomen was opened in layers. A cup-like depression was noted in the midpelvic cavity, and bilateral round ligaments, fallopian tubes, and ovarian ligaments were coming out of the cup-like depression (Figure 2). A cyst of 5 x 6 cm in the right ovary was noted which got ruptured during the procedure, releasing serous fluid. Attempt to reduce uterine inversion abdominally was not successful. So, with the index finger of the assistant surgeon in the cup-like depression from the abdomen, the patient was repositioned in the lithotomy position; the mass was pulled out vaginally. With an index finger still in depression placed up to the fundus of the uterus from the abdominal cavity, myomectomy was done vaginally (Figure 3). The excised mass showed a whorled pattern consistent with uterine fibroid. Myometrium and endometrium were repaired. Again in the supine position of the patient, anterior and posterior edges of depression were held with Allis forceps. With sustained traction on the bilateral round ligament, a vertical incision was given in the posterior portion of depression (i.e., posterior uterus), fundus was pushed vaginally, and the uterine inversion was corrected (Figure 4). The posterior opening of the uterus was repaired (Figure 5). The ruptured ovarian cyst was removed. Approximately 30 percent of the ovary was preserved on the right side, and the left ovary was normal in appearance. The abdomen was closed in layers. The vaginal pack was kept for 24 hours. The specimen was not sent for histopathological examination as histopathological service was not available at our center and the patient could not afford to take the specimen to other centers. Besides, the gross examination of tissue was consistent with fibroid tissue.\nThe postoperative period was uneventful. One unit of whole blood was transfused in the postoperative ward. After total transfusion of three units of whole blood (two units preoperative and one-unit postoperative), her hemoglobin level on the third postoperative day was 7.4 gm%. She was counseled regarding the decreased chance of conception as she had undergone tubal recanalization for tubal ligation done in the past. Also, she had an ovarian cyst which was removed this time with ovarian reserve of 30 percent on the right side which also decreases the chance of conception. We advised not to conceive for at least two to three years, and if she got pregnant, she will need to undergo an elective cesarean section. She was discharged on the seventh postoperative period with iron tablets.",
"gender": "Female"
}
] |
PMC7102445
|
[
{
"age": 48,
"case_id": "PMC4956902_01",
"case_text": "A 48 year-old woman presented to an outpatient clinic with a two-week history of non-productive cough and general malaise. She endorsed a unilateral pruritic red palmar rash. She denied hemoptysis, fever, nasal symptoms, acid reflux, arthralgias, or constitutional symptoms. Past medical history included remote symptoms of migratory arthralgias (several months prior to her presentation), and a remote history of transient left optic neuritis. Social history revealed no tobacco, occupational, or environmental exposures.\nOn initial presentation, her vital signs were stable and the physical examination was unremarkable. Laboratory investigations showed normal cell counts, hemoglobin, chemistry, creatinine, and liver function tests. Urinalysis was positive for moderate red blood cells, however the patient was menstruating at the time. There was no proteinuria and no casts. Her chest radiograph showed airspace disease in the right mid lung field, and she was diagnosed with a lobar pneumonia. A ten-day course of moxifloxacin was prescribed for treatment of pneumonia.\nAt follow up 10 days later, her cough did not improve. A computed tomography (CT) scan showed a 6 cm mass-like area of consolidation with small cavities in the right middle lobe, and well defined solid nodules in the periphery of the left lower lobe (Fig. 1).\nThe differential diagnosis for the CT findings included an atypical pneumonia, possibly fungal in origin, malignancy, septic emboli, or vasculitis.\nSerologies for Histoplasma capsulatum and Blastomyces dermatitidis were negative. Blood cultures grew Propionobacterium acnes but only in a single culture bottle. Anti-cytoplasmic nuclear antibodies were positive with c-ANCA at a concentration of 8 AI units.\nThe patient, still clinically stable, was admitted to hospital for further investigation of suspected ANCA-associated vasculitis. Erythrocyte sedimentation rate and C-reactive protein were elevated at 58 mm/hr and 18.3 mg/L, respectively. Anti-nuclear antibodies and extractable nuclear antigens were negative. Complement assays were normal and anti-PR3 antibodies were high, measuring 417 chemiluminescent units. Fluoroscopically guided percutaneous fine and core needle biopsies were obtained from the right middle lobe mass.\nThe core needle biopsies showed necrotizing granulomatous inflammation. The granulomas consisted mainly of giant cells and epithelioid histiocytes surrounding areas of suppurative basophilic necrosis and embedded in a polymorphous inflammatory infiltrate. The elastic stain demonstrated areas of vasculitis with fragmentation of the elastic layer. The special stains as well as tissue cultures for fungi and mycobacteria were negative. This constellation of features was diagnostic of granulomatosis with polyangiitis (GPA) (Fig. 2).\nFollowing a negative tuberculin skin test and normal hepatitis serology, she was started on high dose prednisone (1 mg/kg), and Methotrexate (15 mg/week). Within 4 weeks her cough and malaise improved. Further investigation with bloodwork, urinalysis, and nasal examination showed no evidence of multi- organ involvement. On repeat chest radiograph four weeks after treatment, there was interval improvement in the airspace disease density (Fig. 3).",
"gender": "Female"
}
] |
PMC4956902
|
[
{
"age": 18,
"case_id": "PMC2628935_01",
"case_text": "An 18-year-old Caucasian female presented with bilateral lower limb paraesthesias followed by increasing leg weakness and difficulty in walking over a period of 2 days. She reported an episode of an upper respiratory tract infection 3 weeks prior to the onset of her neurological symptoms. Past, personal and social history was unremarkable. Clinical examination revealed decreased muscle strength in all extremities associated with hypotonia and areflexia.\nA diagnosis of Guillain-Barre Syndrome (GBS) was considered and a lumbar puncture was performed. Cerebrospinal fluid (CSF) revealed albuminocytologic dissociation (elevated protein with normal white blood cell count in CSF) suggestive of GBS. She was started on intravenous immunoglobulin G, but within 48 hours, she progressed to complete flaccid quadriparesis with involvement of respiratory muscles and required mechanical ventilatory support.\nOn day 12, a cardiac electrophysiology consultation was requested for bradycardia and multiple episodes of asystole. These episodes occurred spontaneously, unrelated to tracheobronchial suctioning, blood drawing or any other intervention. The longest observed pause was 12 seconds. Electrolyte profile was normal and oxygenation was satisfactory. The result of her 12-lead ECG is shown in Figure 1.\nIn view of the multiple episodes of bradycardia and asystole the decision was made to insert a pacemaker. The patient initially received a temporary pacemaker. However, due to an anticipated prolonged clinical course and the potential for recurrent bradycardia and asystole, an INSIGNIA Ultra DR dual chamber permanent pacemaker was implanted after 5 days. The pacemaker was initially programmed to VVI mode at 40 beats per minute to prevent pacing as much as possible. The pacemaker mode was switched to DDDR at the time of discharge because of lack of spontaneous sinus node activity. A paced rhythm was present 18 days post implant, suggesting occurrence of intermittent bradycardia.\nThe patient returned to our office for a routine pacemaker check 3 months after implantation. The pacemaker check revealed that she was in paced rhythm for most of the time in this period. Seventy percent was atrial paced ventricular sensed rhythm with a set lower rate of 40 beats per min. Twenty percent was atrial paced ventricular paced rhythm with a set AV delay of 220 msec. Only for ten percent of the time was she in atrial sensed ventricular sensed rhythm. This may indicate prolonged influence on the autonomic tone even after complete somatic recovery and likely justifies the need for a permanent pacemaker. As far as choice of pacemaker mode is concerned, our patient received a DDDR mode. However, as the 3 month follow up interrogation showed ventricular pacing of <40%, a Managed Ventricular Pacing or the AAIsafeR would have also been a good pacemaker mode option in retrospect.",
"gender": "Female"
}
] |
PMC2628935
|
[
{
"age": 74,
"case_id": "PMC6381922_01",
"case_text": "A 74-year-old woman, generally healthy, presented to the emergency room with abdominal pain. Computed tomography (CT) imaging of the chest and abdomen revealed a right ovarian mass, right adrenal mass, multiple soft tissues and lung metastases. She underwent tru-cut biopsy from the retroperitoneal mass in April 2012. Pathologic study revealed metastatic malignant melanoma. Immunostaining for s-100 and HNB-45 were positive. BRAF mutation was wild type. She refused dacarbazine treatment due to the possibility of alopecia. The patient started vinblastine 6 mg/m2 administered every two weeks in May 2012. Partial response was seen in September 2012. In February 2013 she refused to continue chemotherapy and stayed in follow-up. In May 2013 computed tomography revealed new multiple retroperitoneal masses. Second-line systemic therapy with temozolomide 200 mg/m2 for 5 consecutive days per 28-day treatment cycle was initiated. Stable disease was seen in July 2013 with subsequent progressive disease in November 2013.\nImmunotherapy was initiated with ipilimumab 3 mg/kg every 3 weeks. After 3 cycles near complete response was seen. The patient declined to continue treatment due to side effects such as fatigue grade 3 and liver enzyme elevation grade 2. All subsequent computed tomographic scans were stable.\nIn June 2016 she had progressive disease with appearance of new retroperitoneal, lung and bilateral adrenal metastases. Nivolumab 3mg/kg every two weeks was initiated. After the fourth treatment cycle she developed pancytopenia (hemoglobin level 6.9 g/dL, absolute neutrophil count was 1,000 uL, platelet count 13,000 uL). She started prednisone 1.5 mg/kg orally without any improvement. She was treated by blood transfusions and repeated platelet transfusions. Bone marrow biopsy has been performed. Pathology revealed severe hypoplasia of bone marrow with only isolated erythroblastic islands and almost complete absence of myeloid lineage. The stroma was \"empty,\" with only partial replacement by fatty tissue. No evidence of metastatic melanoma was found in the examined biopsy. Immunostainings for melanoma cocktail and S100 were negative. CD 20 was positive in isolated cells and CD3 highlighted small T-cell aggregates, composed of CD4 and CD8 positive cells. Alcian blue staining confirmed a picture of serous degeneration (Fig. 1). As per the recommendation of the consulting hematologist revolade 50mg/day was initiated with subsequent increased dose to 100mg/day. Despite treatment the patient continued to deteriorate and died.",
"gender": "Female"
}
] |
PMC6381922
|
[
{
"age": 46,
"case_id": "PMC9066584_01",
"case_text": "A 46-year-old man was diagnosed with advanced poorly cohesive signet ring cell gastric adenocarcinoma (cT3N2M1), human epidermal growth factor receptor 2 (HER2) negative, in November 2017. He was initially treated with modified DCF regimen (Docetaxel 40 mg/m2 on day 1, Cisplatin 40 mg/m2 on day 3 and 5-Fluorouracil 2000 mg/m2 continuous infusion over 48h, every two weeks). He completed six cycles with good clinical response and partial radiological response.\nTwo months later, he presented to the emergency department (ED) with a 6-day history of severe persistent headache, diplopia and abnormal gait. Besides ataxia, his neurological examination was unremarkable. Initial blood workup and head CT scan showed no abnormalities. Subsequently, a lumbar puncture was performed and CSF analysis was compatible with LMC (Figure 1). He was then admitted to the neurology department for further evaluation and initiated dexamethasone (16 mg/day), with partial resolution of symptoms. Brain magnetic resonance imaging (MRI) was performed, showing leptomeningeal enhancement as well as malignant infiltrates at the entire cerebrum (Figure 2).",
"gender": "Male"
},
{
"age": 50,
"case_id": "PMC9066584_02",
"case_text": "A 50-year-old man was diagnosed with localized poorly cohesive gastric adenocarcinoma (cT2N2M0) in February 2015 and was treated with perioperative chemotherapy and surgery (total gastrectomy), according to the MAGIC trial.\nOne month after the surgery, he presented to the ED with a 4-day history of nausea, epigastric abdominal pain and acholic stools. Laboratory data revealed elevated serum lipase (1980 U/L) and amylase (215 U/L), but the abdominal ultrasound was unremarkable. A postoperative acute pancreatitis was assumed but on day 3, he developed two brief episodes of clonic left hemi-body seizures with Jacksonian march without loss of consciousness. Head CT scan revealed a hyperintense right frontoparietal lesion with surrounding oedema, suggestive of malignancy on brain MRI (Figure 3). He suddenly began with persistent unrelieved headache, nausea and vomiting. CSF analysis revealed atypical malignant signet-ring cells and gastric adenocarcinoma LMC was assumed (Figure 4).\nAfter discussion at the multi-disciplinary tumor board, the patient started intrathecal (IT) chemotherapy with methotrexate (12 mg) and dexamethasone (4 mg), once a week. After two cycles of IT his neurological symptoms aggravated and its performance status degraded and he was referred to palliative care, were he died two months later.",
"gender": "Male"
}
] |
PMC9066584
|
[
{
"age": 68,
"case_id": "PMC3328781_01",
"case_text": "A 68-year old man was diagnosed with advanced multilocular HCC on the basis of ethyltoxic liver cirrhosis (Child-Pugh A) in September 2009. At the time of diagnosis, a moderately differentiated metastasis to the thyroid gland and several metastases to the autochthonic spine musculature and the vertebral bodies with stenoses of the spinal canal (L I) and the neuroforamina (Th XII to L I) were present (Figure 2).\nTherapy with sorafenib at 800 mg per day was started in September 2009 and showed a mixed response in MRI scan 6 weeks after treatment start with partly necrotic or decreased lesions but also increasing and novel lesions in the liver and stable soft tissue and bone metastases. Sonography revealed a large lesion (11 cm) in the right liver lobe which was more than 75% necrotic but also 8 additional lesions up to 5 cm (Figure 3).\nAfter obtaining informed consent, therapy with panobinostat was started in November 2009: sorafenib was continued at 800 mg daily and panobinostat at 20 mg was administered orally on days 1 and 4 for two consecutive weeks followed by one week of sorafenib therapy alone, representing a three week therapy cycle which was repeated 5 times.\nStaging was performed after three cycles in January 2010 (Figure 4). Here, contrast enhanced sonography showed constant lesions in liver segments V, VI and VII (94*80*75 mm) as well as in segment II (29*32 mm) with signs of cirrhosis but no ascites. MRI scanning showed slightly decreasing hemorrhagic lesions with signs of liquid transformation in both liver lobes and of the soft tissue metastasis in the autochthonic spine musculature. No new lesions were discovered. The patient reported diarrhea, exsiccosis, hypocalcaemia and nausea during the last cycle that responded to supportive treatment.\nAfter eight cycles of sorafenib and panobinostat, MRI staging in April 2010 showed a further regression of the lesions in the liver and the spine musculature. Contrast sonography showed a necrotic lesion in segment VI and a hypervascularized but still constant lesion on segment VIII.\nBy request of the patient the therapy with panobinostat was stopped in May 2010 as the patient experienced lack of appetite and slight weight loss (3 kg since February 2010), which was perceived as increasingly wearing by the patient and lead to withdrawal of consent. Sorafenib was further continued at the standard dose.\nAlthough transaminases and gamma-GT were initially elevated (maximum GOT 130 U/l, GPT 178 U/l, gamma-GT 167 U/l), these parameters rapidly normalized under sorafenib therapy and stayed in the normal range until the end of treatment with panobinostat (Figure 5A). Albumin and prothrombin time as markers of liver synthesis capacity were slightly decreased throughout the treatment period without signs of clinical symptoms. Interestingly, the initially elevated tumor marker alpha-fetoprotein (AFP) returned to normal values already under sorafenib therapy despite a lack of radiologic response at this stage (Figure 5B). AFP levels remained below 10 ng/ml until the end of the panobinostat treatment period, too, but raised to 36.6 ng/ml at the end of the observation period. This increase in AFP was also paralleled by an increase in transaminases and gamma-GT at this stage indicating a deterioration of liver function and progress of the tumor disease under sorafenib monotherapy. Hematologic assessment revealed leucopenia, low hemoglobin, erythrocytes and hematocrit under initial sorafenib therapy. These values remained stable also under additional panobinostat therapy with even an amelioration of leucopenia to normal range after three cycles. Differential blood count showed a stably lymphopenia and monocytosis during the whole treatment period. All other laboratory parameters remained in the normal range throughout the study period.",
"gender": "Male"
}
] |
PMC3328781
|
[
{
"age": 51,
"case_id": "PMC8531932_01",
"case_text": "A 51-year-old male non-smoker was referred to the emergency room (ER) with the complaint of abdominal pain 3 days earlier,which she rated an \"8\" on a scale of 1 to 10 without any medical history and drug history. He stated that the pain worsened with movement and change in position. He denied any significant family history of the disease. During the physical examination, the patient was diaphoretic, uncomfortable, and in severe distress. His vital signs were: blood pressure, 156/87 mm Hg; respiratory rate, 19 breaths/minute; heart rate, 132 beats/minute; and temperature within normal limits. Oxygen saturation was 93% on room air. The abdominal examination revealed a distended abdomen that was severely tender to palpation. Intravenous (IV) fluids were immediately started for the patient. He was also given IV ondansetron for nausea. His pain was refractory to treatment and required multiple doses of morphine sulfate. Laboratory evaluation revealed leukocytosis with a white blood cell (WBC) count of 14.5 thou/cm. He underwent laparotomy due to tenderness in favor of acute abdominal pain. During laparotomy, not only the small and large intestine but also their vasculature was normal. After two days, the patient was discharged with no pain and symptom. With nausea, abdominal pain, and dyspnea, he came back to the ER again after 3 days. On examination, he had tachypnea (RR: 40/min), tachycardia (HR: 120/min), low-grade fever (Temp: 38 centigrade). A lung computed tomography (CT) (Figure 1) and an abdominopelvic CT (Figure 2) were done. The patient was intubated due to respiratory failure. Covid-19 RT-PCR (Everse transcription polymerase chain reaction) was performed. Lab data included complete blood count (CBC)(WBC:17000 per microliter, Hb:12:8.7 g/dL, Plt: 350,000 per microliter), urea :170 mg/dL, (creatinine) Cr:4.2 mg/dL, (Lactate dehydrogenase) LDH:504 U/L, (C-reactive protein) CRP:47mg/L, and negative viral disease (HCV Ab-hepatitis C virus antibody, HBS Ag-Hepatitis B Antigen,, HIV Ab (human immunodeficiency virus)The patient was treated with 400 mg single-dose, hydroxychloroquine sulfate, lopinavir/ritonavir 100/400mg twice daily for five days, ribavirin 1200 mg twice daily for five days, and three doses of 250 mug beta interferon (Every other day). \n During ICU admission, on the third day, fecaloid discharged from abdominal suture appeared, and therefore the patient was on sepsis phase. Laboratory data were CBC (WBC: 24000 per microliter, Hb: 12 g/dL, Plt: 347000 per microliter), urea: 206 mg/dL, Cr: 3.2 mg/dL,and amylase: 67 U/L. \n Re-laparotomy was performed, and after laparotomy, serosanguinous secretions with necrotic changes in the small intestine were seen, so 130 cm of it was resected (Figure 3). The day after, due to suspicion of leakage from the anastomosis site, laparotomy was performed again and due to leakage from the anastomosis site and smaller bowel necrosis,100 cm of intestine was resected so ileostomy was performed. A pathological study (Figure 4) reported intravascular thrombosis in mesenteric tissue with a necrotic margin. The RT-PCR of covid-19 was reported positive. \n The patient was treated with heparin infusion and broad-spectrum antibiotics. After 10 days of treatment in ICU, he was extubated, and his hemodynamic was stable, but platelet count began to decrease (162,000 per microliter), and therefore the day after gastrointestinal bleeding happened. \n Lab test were CBC (WBC: 7100 per microliter, Hb: 8.7 g/dL, plt: 162000 per microliter), Cr: 1.3 mg/dL, amylase: 65 U/L. Plt and Cr decreased to 69000 per microliter and 1.1 mg/dL, respectively, but other coagulation tests (PT and PTT) were normal the day after. Heparin infusion was discontinued. Other laboratory tests were D-dimer: 2500 ng/mL, fibrinogen: 150 mg/dL, PT: 44 sec, PTT: 44 sec, INR: 1.7. No schistocyte in peripheral blood smear was found. Unfortunately, the patient eventually developed treatment-resistant sepsis, DIC, and died of its complications.",
"gender": "Male"
}
] |
PMC8531932
|
[
{
"age": 62,
"case_id": "PMC3363304_01",
"case_text": "A healthy 62-year-old Japanese woman complained of a 1-week history of frontal headaches. The headache moved to the left supra-orbital region and she noted blurred vision in the left eye. She visited the neurologic department of Kohnodai Hospital (Chiba, Japan) on March 9, 2010. The results of general physical examination were unremarkable. She was suspected of having retrobulbar optic neuritis and was hospitalized immediately. However, enhanced magnetic resonance imaging (MRI) showed a 9 mm heterogeneous intracranial lesion attached to the TS around the left optic nerve anterior to the chiasm (Figure 1A-C). Examination of the cerebrospinal fluid showed an increase of the cell counts (171/mL mononuclear cells 162, polynuclear cells 9, normal range: <45/mL) and protein concentration (61 mg/dL, normal range: 10-40 mg/dL). These findings led to a tentative diagnosis of granulomatous inflammation with optic nerve compression. She was treated with steroid pulse therapy, and then referred to the ophthalmologic department for neuro-ophthalmic examinations on March 11, 2010.\nHer best-corrected visual acuity (BCVA) was 1.0 in the right eye and 0.3 in the left eye, and she had a relative afferent pupillary defect in the left eye. The results of ophthalmoscopic examinations were normal (Figure 2A and B). Static perimetry 30-2 with the Humphrey field analyzer (HFAII 745; Carl Zeiss AG, Oberkochen, Germany) showed an inferior temporal field defect in the left eye (Figure 2C and D). The pattern VEPs elicited by transient and steadystate stimuli to the left eye were undetectable (Figure 3). She was diagnosed with optic nerve compression. Three weeks after the steroid pulse treatment, her BCVA improved to 1.2, and the field defect disappeared. At the 1-year follow-up examination, her BCVA remained in 1.2, and the visual field was almost normal in the left eye without any treatment (Figure 2E). A thinning of the ganglion cell complex (GCC) was detected by a spectral domain OCT (Figure 4).\nOn July 23, 2011, she began suffering from headaches again, and she noted a complete loss of vision in her left eye. She was immediately referred to the neurosurgical department. She was treated with steroid pulse therapy again, but there was no improvement. The visual acuity remained at no light perception and there was no direct light reflex in the left eye. Thin sliced enhanced MRI revealed that the intracranial lesion had extended into her left optic canal, even though the size of the main mass was almost the same as earlier (Figure 1D-F). Emergency surgery was carried out on July 29, 2011. A hemi-interhemispheric approach was used, and the tumor was successfully removed (Simpson grade 2) including the intracranial lesion by opening the optic canal (Figure 1G-I). A diagnosis of meningothelial meningioma was made by histopathological examination of the removed tissue.\nOne month after surgery, her BCVA improved to 1.2, and a mild temporal hemianopia was detected in the left eye (Figure 2F). The pattern VEPs were present but had a prolonged P100 latency of 170 ms (Figure 3). OCT showed that the GCC was thinner than the preoperative thickness (Figure 4). At 3 months, all of the findings remained the same.",
"gender": "Female"
}
] |
PMC3363304
|
[
{
"age": 57,
"case_id": "PMC3736967_01",
"case_text": "A 57-year-old man had noticed a right chest wall mass lesion for 15 years, but had ignored the lesion in the 5 years before presentation. He was admitted to our hospital without significant symptoms and with no history of tuberculosis. Magnetic resonance imaging (MRI) was performed, and a 5-cm-diameter lesion was found. The signal was isointense on T1-weighted imaging (T1WI) and hyperintense on T2-weighted imaging (T2WI) (Fig. 1). Needle biopsy was performed, and histopathology showed lymphocyte infiltration with no evidence of malignancy. The patient was followed up for the next 7 years, and during that interval he had no significant symptoms. \nOn MRI after 7 years of follow-up, the primary chest wall mass lesion was without any significant change, but a small subcutaneous mass lesion was found nearby. The MRI signal of this subcutaneous mass was almost identical with the original mass (Fig. 2). Diffusion-weighted imaging (DWI) was performed and both lesions exhibited high signal on DWI and a low apparent diffusion coefficient (ADC) (about 0.5) on the ADC map (Fig. 3). In light of the MRI findings, hypercellular malignant tumors (including melanoma and lymphoma), atheroma, and nodular fasciitis were suspected. Excisional biopsy was not performed since that would make definitive re-excision more extensive due to the contamination of surrounding tissue planes. Therefore an open biopsy of both lesions was performed. The mass lesions were both found to be marginal zone B-cell lymphomas (Fig. 4). \nIn this case, no other tumors were found, so radiation therapy only (36 Gy/20 French) was given. The patient was discharged, and follow-up found the patient in good condition with no apparent signs of recurrence after 2 years.",
"gender": "Male"
}
] |
PMC3736967
|
[
{
"age": null,
"case_id": "PMC6902614_01",
"case_text": "Between January 2014 and April 2019, A total of 35,233 pregnant women were referred to our center to perform invasive prenatal diagnosis for abnormalities based on fetal ultrasound anatomy scans or maternal serum screening. Fetal ultrasound anatomy scans were routinely performed for pregnant women by senior sonographers using GE E8 ultrasound machines (General Electric Healthcare, US). The indication included: fetus with ultrasound abnormalities (intrauterine growth restriction, increased NT thickness, cleft lip/palate, cystic cerebral lesions, abnormal nasal bone or renal hypoplasia, etc.), positive maternal serum screening test or NIPT high risk for aneuploidy, etc. This was a retrospective study and approved by the Medical Ethics Committee of the Guangxi Maternal and Child Health Hospital and written consent from the parents.\nChorionic villi sampling, amniocentesis or cordocentesis was performed under ultrasound guidance after informed consent. Genomic DNA was extracted using QIAamp DNA Blood Mini Kit (Qiagen, Germany) according to the manufacturer's protocol. Single-nucleotide polymorphism (SNP) microarray testing was performed using Illumina HumanCytoSNP-12 v2.1 BeadChip (Illumina, USA) and the copy number variation positions were shown according to the human Feb. 2009 (GRCh37/hg19) assembly. The laboratory policy at the time of testing was not to report well established polymorphisms, CNVs that do not contain genes and categorized as benign or likely benign base on the ACMG guideline. Karyotyping was performed for the available samples according to the standard procedure as described previously.",
"gender": "Female"
}
] |
PMC6902614
|
[
{
"age": 52,
"case_id": "PMC6731353_01",
"case_text": "A 52-year-old Japanese female presented to our hospital with a chief complaint of fever and swelling with tenderness in the thenar area of her right hand. She reported that three days before her visit, a stray cat had bitten her right thenar area as she was walking along a river terrace nearby her house in Wakayama City, Japan. She had no medical history and had not traveled in the last several years. She had one dog, but the dog had not bitten her in the last several months. Likewise, she had not cut any raw fish in recent memory. She began experiencing swelling and sensations of heat around the site of the bite from the day after the cat bit her.\nHer triage vital signs were a blood pressure 153/77 mmHg, pulse 103 beats/min, respiratory rate 24 breath/min, SPO2 99% (room air), and body temperature 39.3 degrees C. She generally appeared unwell but was fully conscious and able to report her history. Her cardiovascular and respiratory examinations were normal. Redness and warmth were found around the bite site on the right thenar area. Neither pain nor swelling of the wrist joint was observed. Linear erythema extended from the bite site to the right forearm.\nLaboratory results revealed the following: white blood cell count, 9900 /muL; platelet count, 23.1 x 104/muL; creatinine, 0.59 mg/dL; total bilirubin, 0.7 mg/dL; aspartate aminotransferase, 19 U/L; alanine aminotransferase, 19 U/L; lactate dehydrogenase, 238 U/L; CRP, 1.01 mg/dL.\nShe was diagnosed with a soft tissue infection of the right hand, lymphangitis, and sepsis associated with a cat bite. Ampicillin/sulbactam was administered and amoxicillin/clavulanate was prescribed. A blood culture was positive for gram-positive rod on the day after her first hospital visit (Fig. 1). Although E. rhusiopathiae was detected by rapid bacterial identification and susceptibility testing (VITEK 2 , BioMerieux), further investigation was required because the cultured strain produced no hydrogen sulfate. The nucleotide sequences of the 16S rRNA genes of E. rhusiopathiae and E. tonsillarum were determined to have similarities of 99.9% and 99.7%, respectively. Tests revealed that the strain did not ferment sucrose, which enabled its identification as E. rhusiopathiae. The strain showed low minimum inhibitory concentrations (MICs) for penicillin ( 0.03) and ceftriaxone ( 0.03), and an elevated MIC for vancomycin (>4). Physical examination and echocardiography showed no signs of endocarditis. The patient's fever abated and her other vital signs stabilized 2 days after the antibacterials were commenced. The symptom of lymphangitis in her right forearm disappeared and the swelling of her right hand improved. A follow-up blood culture after 5 days of antibacterial treatment was negative.\nThe patient was treated with oral amoxicillin/clavulanate for 12 days after a single intravenous administration of ampicillin/sulbactam and recovered fully.",
"gender": "Female"
}
] |
PMC6731353
|
[
{
"age": 57,
"case_id": "PMC9795177_01",
"case_text": "A 57-year-old Chinese man was admitted to the respiratory department at a regional hospital owing to hemoptysis and cough, no obvious cause was identified, and the patient denied having chest pain, fever, shiver, and other concomitant symptoms. The patient's social history was as follows: 60-pack years and 30 years of significant alcohol intake; however, he had been sober for 10 years. There was no other relevant medical history of note, and the patient revealed no genetic, congenital, or developmental abnormalities. Unfortunately, the family genetic history was not provided. The patient had not received any prior treatment for these symptoms. Physical examination revealed that the superficial lymph nodes of the whole body were not palpable or enlarged. The breathing sounds of both lungs were clear, and no coarse or fine crackles were heard. Computed tomography (CT) scan revealed an irregular large soft tissue mass in the right hilar region, invading the right main bronchus, narrowing, and truncating with atelectasis. The tumor diameter was 52.85 mm (mediastinal window images were uniformly used for measurement and comparison) with atelectasis ( Figure 1A ). Histological examination of a transbronchial specimen confirmed that the tumor was a squamous cell carcinoma (SCC). No lymph node metastases or distant organ metastases were identified. Based on the 8th Edition Lung Cancer Stage Classification, it was diagnosed as right central lung SCC with right upper lobe atelectasis (stage cT3N0M0, IIB).\nAs the tumor was close to the carina, a multidisciplinary team (MDT) consultation was undertaken; the team consisted of a medical oncologist, a thoracic surgeon, a radiologist, and a pathologist. As the MDT concluded that the risks associated with the surgical resection of the tumor were very high, it was not considered at the time. A treatment plan was developed for induction chemotherapy with sequential thoracic radiotherapy since the large diameter of the tumor and vascular invasion. Paclitaxel (albumin-bound) 400 mg D1 combined with carboplatin 500 mg D1 on a 21-day cycle was used for induction chemotherapy. The first treatment cycle began on October 16, 2020, and the two-cycle efficacy was evaluated as stable disease ( Figure 1B ).\nAt the end of the first round of chemotherapy, the patient again presented with cough with hemoptysis in the early morning of the 3rd day; the blood was dark red and of approximately 10-15 ml. Routine blood test revealed that the bleeding was not caused by thrombocytopenia, a common adverse reaction to chemotherapy. Bronchial artery embolization was performed twice during chemotherapy to address the symptoms. The first embolization was performed on October 19, 2020. The interventional doctor injected the contrast medium into the thickened artery: the trunk of the right middle and lower lobe bronchial artery; this helped to clearly stain the tumor, and the staining disappeared after poly vinyl alcohol (PVA) microspheres measuring 300-500 mm in diameter was injected into the arteries. However, the results were unsatisfactory, and the patient's hemoptysis did not reduce in intensity following the procedure. A second embolization was performed 6 weeks later (December 2, 2020). The PVA microspheres with a diameter of 100-300mm and two coils with diameter 2cm/crimp diameter 2cm (2-2) were injected into the right upper lobe bronchial artery; and four coils with diameter 2cm/crimp diameter 2cm (2-2) were injected into the right middle lobe bronchial artery. The patient's hemoptysis disappeared; no chemotherapeutic drugs were used in either procedure. The patient tolerated the intervention, and there were no adverse reactions, such as fever, headache, nausea, or vomiting. On the second day after embolization, intensity-modulated radiation therapy (IMRT) was initiated at a dose of 60 Gy for 30 fractions. On December 9, 2020, enhanced CT performed during radiotherapy to reposition the patient revealed that the tumor had significantly reduced in size to 21.16 mm ( Figure 1C ). On December 16, 2020, after the 10th radiotherapy fractionation, an enhanced CT scan revealed that the tumor had reduced to 18.11 mm in size. It remained this size for 4 months ( Figure 1D ). Unfortunately, the patient has since developed lymph node metastases (occurred 3 months after radiotherapy) and remains under treatment. The patient provided informed consent for publication of this case report.",
"gender": "Male"
}
] |
PMC9795177
|
[
{
"age": 79,
"case_id": "PMC5828284_01",
"case_text": "A 79-year-old male patient with a long history of Parkinson disease and heart failure due to double aortic dysfunction (severe stenosis and moderate insufficiency) returned to follow-up with signs of clinical deterioration. For the past 4 years, he'd already had indications for surgical treatment but refused it. In the presence of a worse clinical condition, he consented to surgery. An echocardiogram was performed, which showed the double aortic valve dysfunction and measured a left ventricular ejection fraction of 29%. After proper pre-operatory stabilization, the aortic valve was replaced with a biological prosthesis.\nThe patient's original aortic valve was sent to pathological analysis, confirming chronic calcified valvulopathy. An incidental finding at histological examination was an agglomerate of polyhedral cells and histiocytes admixed with fibrin and erythrocytes, and focally forming strips or tubular arrays that were not attached to the valve, which appeared to correspond macroscopically to a thrombus (Figures 1A and 1B). Immunohistochemistry was positive for calretinin in some of the cells and for CD68 in others, allowing the identification of a biphasic lesion, with mesothelial cells and macrophages, respectively (Figures 1C and 1D), and the diagnosis of a mesothelial/monocytic incidental cardiac excrescence.",
"gender": "Male"
},
{
"age": 26,
"case_id": "PMC5828284_02",
"case_text": "A 26-year-old patient with the previous diagnosis of epileptic seizures, cognitive deficit, chronic lymphedema of the lower limbs, bicuspid aortic valve and total atrioventricular block, who had an implanted internal pacemaker, was admitted for surgical replacement of the aortic valve by a biological prosthesis. Pathological examination of the native valve was consistent with chronic endocarditis, but in the histological analysis isolated sheets and blocks of epithelioid cells within a fibrin matrix were also found, which were associated with macrophagic reaction (Figure 2A), an incidental finding, without attachment to the valve. Immunohistochemistry was positive for pan-keratin (AE1/AE3) and WT1 in the epithelioid cells and CD68 in the macrophages. Such findings are consistent with mesothelial/monocytic incidental cardiac excrescence.",
"gender": "Unknown"
},
{
"age": 45,
"case_id": "PMC5828284_03",
"case_text": "Our third patient was a 45-year-old male patient with precedent rheumatic fever, followed by mitral valve stenosis, which evolved with left atrial enlargement and atrial fibrillation. The patient underwent cardiac catheterization, which identified a 50% occlusive lesion of the second left marginal artery. He had heart failure and complained of dyspnea at usual efforts. A mitral valve replacement was performed.\nDuring surgery, in the mediastinum, the surgeon described an area that grossly resembled fibrosis, which was excised and submitted for pathological study. Microscopically it was composed of fibrotic tissue with foci of calcifications and thrombi. Additionally, and apart from the fibrotic area, an agglomerate of polyhedral cells and histiocytes were found embedded in fibrin (Figure 2B), compatible with mesothelial/monocytic incidental cardiac excrescence (Figures 2C and 2D).",
"gender": "Male"
}
] |
PMC5828284
|
[
{
"age": 12,
"case_id": "PMC6370615_01",
"case_text": "The patient was a 12-year-old male who had his first seizure attack at the age of 10, and had four types of epileptic seizures. The first type of seizure was tonic axial seizures characterized by flexion of the neck and body and the extension of four extremities for several seconds. The tonic seizures could last several seconds. This type of seizure occurred predominantly at night and the frequency was about 4-5 times per week. The second type was atypical absence seizures, which manifested as a sudden loss of consciousness and the resuming of normal activity right after the seizure. This type of seizure could last about 15 s and the frequency was 4-5 times per week. The third type was the myoclonic seizure, presented as prominent myoclonic jerks of bilateral upper limbs. The frequency of this type of seizures was 2-3 times per day. The last type of seizure was the generalized tonic-clonic seizure, which could last about 5 min. The mean frequency of this type of seizure was <1 time per week.\nThe patient was a full-term infant with no history of perinatal asphyxia, head injury, encephalitis, and febrile convulsions. His family history was unremarkable. He had a mild degree of intellectual impairment and learning disability after the onset of the disease. The physical examinations were normal. Auxiliary examinations, including blood routine examination, serum biochemical examination, thyroid function, autoimmunity antibody, and blood ammonia, were normal. The electrocardiogram was normal and the QT interval (QTc) was 372 ms. There was no lesion on the brain MRI. The Wechsler Intelligence Scale showed a borderline cognition impairment. The electroencephalogram (EEG) before treatment showed that there was a large number of 3 to 5 Hz slow waves with middle and high amplitude in the anterior region in the background. Fast rhythms bursts of 16 to 20 Hz and multiple-spike-and-slow-waves of 0.5 to 1 Hz were observed during the sleep period. Slow spike-and-slow-waves of 1.5 to 2.5 Hz were observed during awake time (Figure 1).\nThe patient was diagnosed with Lennox-Gastaut syndrome after considering his multiple types of epileptic seizures, mental retardation, and typical electroencephalographic features. He was refractory to a multiple anti-epileptic drugs treatment, including sodium valproate (8 mg/kg/day), levetiracetam (50 mg/kg/day), clonazepam (0.0375 mg/kg/day), topiramate (3.75 mg/kg/day), and lamotrigine (2.5 mg/kg/day). Whole exome sequencing (WES) identified a novel heterozygous KCNT1 mutation (chr9:138649026; c.625C>T; p.Arg209Cys) inherited from his father. This missense mutation was highly likely to cause the dysfunction of the KCNT1 channel and led to a gain-of-function phenotype. This alteration had not been previously reported and was not found in the ExAC database (http://exac.broadinstitute.org/), and was predicted to be likely pathogenic.\nThis study was approved by the human research ethic committees of Xuanwu hospital capital medical university. Written informed consent was obtained from all participants and guardians of minors for the quinidine therapy and the publication of this study. Additive quinidine therapy to our patient was initiated at 12 years of age. The doses of the above anticonvulsants remained unchanged. In the month before quinidine therapy, the patient had 16 tonic seizures, 12 atypical absence seizures, 10 myoclonic seizures, and 1 generalized tonic-clonic seizures.\nAfter admission, the quinidine therapy was initiated with 5 mg/kg/day in 3 divided doses under electrocardiographic (ECG) monitoring. The QTc ranged from 361 to 415 ms, with an average of 378 ms (the normal limit of QTc is within 450 ms). After 1 month of treatment, the dose of quinidine was titrated to 10 mg/kg/day and he had 13 tonic seizures during this month. The dose was maintained during the following 2 months. QTc was in normal range (391-436 ms). There was also no other adverse effect of quinidine. At the fourth month, the dose of quinidine was increased to 13.75 mg/kg/day in 3 divided doses. The frequency of tonic seizures ranged between 4 and 6 times per month. The mean QTc interval was 383 ms. As no adverse effects were experienced, the dose of quinidine was maintained to 13.75 mg/kg/day during the following 4 months. The patient had 4 tonic seizures per month. The frequency of tonic seizures subsided by 75% (Figure 2A), whereas the frequency of the other types of seizures was not reduced significantly.\nVideo EEG (VEEG) was performed regularly during treatment and the number of epileptic discharges was counted by four expert technicians who had not seen the patient's clinical information. One slow spike-and-wave complex or one episode of paroxysmal fast rhythms in EEGs were counted as one epileptiform discharge. 1323 epileptiform discharges were recorded during a 24-h video EEG before the treatment of quinidine. We subsequently applied the 24-h VEEG every 3 months to evaluated the efficacy of the quinidine treatment. The total number of epileptic discharges was 512, 652, and 598 in the next 3, 6, and 9 months, respectively. The epileptiform discharges decreased by 54.80% (Figure 2B).",
"gender": "Male"
}
] |
PMC6370615
|
[
{
"age": 22,
"case_id": "PMC5864713_01",
"case_text": "A 22-year-old patient underwent FNA as a nodule was detected on the outer center of the right lobe of the thyroid, and it was reported to be a Bethesda system category IV, Hurthle cell follicular neoplasia.\nA right total thyroidectomy was performed on the patient who presented to our hospital, and a frozen section was requested. In the right total, 3.5x2-cm thyroidectomy material section, a 1.7x1.2-cm nodule, including necrotic and focal hyalinized areas, located 0.3 cm from the thyroid capsule, was observed. The frozen section analysis was reported as \"necrosis, focal papillary structures in some places around the hyalinized areas, malignant-benign differentiation was not clear, and paraffin sections were to be examined,\" and a total thyroidectomy was prevented.\nIn the center of the paraffin sections, papillary structures composed of large oncocytic cytoplasmic thyrocytes in the focal area around intense infarct were noticed (Figs. 1, 2, 3).\nThese papillary structures were observed in the focal areas, and because of the previous FNA diagnosis of follicular neoplasia, these structures were initially considered to be \"reactive papillary hyperplasia.\" However, when examined in detail, these papillary structures were found to be infiltrative in places in spite of being in a focal area, and their cytological evaluation suggested papillary carcinoma.\nImmunohistochemical analysis of the papillary structures showed diffuse, strong positivity with cytokeratin 19 and focal, weak positivity with HBME-1, whereas the external control was positive with galectin-3 and no staining was observed in the case (Figs. 4, 5, 6).\nOn this basis, BRAF V600E was studied in terms of molecular genetics, and the patient was diagnosed with a \"thyroid papillary carcinoma\" because of a positive result.\nFNA preparations of the patient that had been previously analyzed in the external center were made available for a re-evaluation to determine the extent to which the cytology would contribute in such cases, and FNA preparations were re-evaluated.\nCytological evaluation revealed focal groove structures with large oncocytic cytoplasm in hypercellular spreads, mostly in a microfollicular pattern; some of the structures were standing alone or in groups similar to focal papillary structures, overlapping in places, and also showed thyrocytes with intranuclear inclusion (Fig. 7).\nIt was considered that an underdiagnosis was made in the FNA analysis, and it could be evaluated as at least category V (suspicious for malignancy) or category VI (malign aspirate).\nThe patient presented to our hospital again with a complaint of dizziness and nausea after thyroidectomy. During MRI at our center (Fig. 8), a mass was detected in the brain stem. \"Astrocytoma,\" as a 2nd synchronous primary tumor, was detected in the patient who underwent surgery at an external center at the patient's request.",
"gender": "Unknown"
}
] |
PMC5864713
|
[
{
"age": 11,
"case_id": "PMC6222037_01",
"case_text": "An eleven-year old boy was evaluated in the Neurology clinic. He was born at 39 weeks via emergency C-section in a pregnancy complicated by preeclampsia. Maternal history was significant for three prior miscarriages. There were no teratogen exposures during pregnancy. He was healthy with the exception of severe constipation as an infant. He had global developmental delays. He sat at 6 months, walked independently at 24 months, and was unable to ride a bike. He also had fine motor difficulties, particularly with writing letters and using utensils. From a language perspective, he was nonverbal and had deficits in receptive speech. His fourteen-year old brother had a genetic microarray confirming duplication of exons 3 and 4 MECP2 and triplication of exons 1 and 2 MECP2 and also had global developmental delay, absence of speech, and hypotonia. His younger brother and proband also had a duplication of MECP2 on testing. The patient's maternal grandmother had seizures and there was a history of epilepsy and cognitive impairment in other maternal relatives.\nThe patient presented with multiple dysmorphic features, including epicanthal folds, small palpebral fissures, long face, simplified helices, clinodactyly, small hands with poor capillary perfusion, and inverted nipples. He had mild scoliosis and kyphosis. His cranial nerve and motor exam were grossly normal. Reflexes were within normal limits. Cardiac auscultation revealed a systolic murmur at the left lower sternal border. He had a normal echocardiogram.\nThe patient presented with a history of seizures suggestive of focal dyscognitive seizures and generalized tonic-clonic seizures. The initial episodes were characterized by unresponsiveness, focal eye deviation, and post-ictal confusion with an unknown seizure frequency. He also developed tonic-clonic episodes involving his four extremities. Later, he mainly had episodes of drop seizures, occurring 20-30 times daily and lasting minutes. As a result of these drop seizures, he lost his ability to walk independently and required significant assistance for his activities of daily living including eating, dressing, and bathing. He had several falls per week often resulting in soft tissue injuries. He was reported to have difficulty with concentration and executive functioning both at school and at home due to his uncontrolled seizures.\nAn initial MRI was normal and an EEG noted mild nonspecific slowing (7 to 8 Hz background frequency) with no obvious epileptiform activity. A genetics referral was made with requests for chromosomal microarray, Rett syndrome testing, CK, and a metabolic work-up. Genetic testing revealed a microduplication at Xq28 of 430 megabases, involving three genes: IRAK1, MECP2 and FLNA.\nThe patient was started on valproic acid (VPA) at 10 mL BID to be continued for two years. Since starting VPA, he was seizure-free. His brother, who was found to have the same MeCP2 duplication, also remained seizure free on VPA.\nHowever, due to findings of thrombocytopenia and hyperbilirubinemia in the proband, the VPA was stopped. Following the discontinuation of VPA, he had a re-emergence of his epilepsy with an increase in his drop seizures. He was trialed on a multitude of other anticonvulsants, including Levetiracetam 1500 mg BID (9 months), Lamotrigine 150 mg BID (6 months), Oxcarbazepine 900 mg QAM-1200 mg QHS (4 months), Lacosamide 200 mg BID (3 months), Topiramate 150 mg BID (9 months), and Clobazam 10 mg QHS (ongoing) with no success. Given that the patient remained refractory to polytherapy and that the reported hyperbilirubinemia is a very rare occurrence, the VPA was re-started with close monitoring of transaminases and bilirubin levels. Laboratory studies showed a normalization of platelets and bilirubin levels.\nUpon re-challenge, his convulsive seizures were controlled with a significant decrease in frequency of his drop attacks occurring 1-2 times daily. Initially he would have 20-30 drop seizures each day accompanied with unresponsiveness, greatly affecting his ability to function. However, with the reduction in seizure activity, his activities of daily living and school performance improved markedly. In addition, as per parent report, the removal of the sedating anticonvulsants made him less drowsy. Overall, his improved functioning translated in reduced caregiver stress and better quality of life for the patient.",
"gender": "Male"
}
] |
PMC6222037
|
[
{
"age": 7,
"case_id": "PMC9513563_01",
"case_text": "A female infant was born at 35 5/7 weeks gestation to a 26-year-old gravida 2, para 2 mother. The infant was small for gestational age, born at 1.984 kg (ninth percentile on the Fenton growth chart for preterm girls).\nThe pregnancy was complicated by maternal tobacco use. The mother was positive for group B streptococcus, and she received clindamycin for intrapartum prophylaxis due to penicillin allergy. She was also late to acquire prenatal care, having been seen initially at 20 weeks gestation. The remainder of the mother's prenatal testing was unremarkable, and there was no other pertinent maternal history. There were no abnormalities noted on prenatal imaging.\nThe mother presented to the outside (referring) hospital with spontaneous preterm labor. The delivery was complicated by vacuum assistance. The infant was vigorous at delivery and did not require resuscitation.\nThe referring hospital contacted the tertiary care facility after multiple congenital anomalies were noted on physical examination. The infant was transferred to the level 4 neonatal intensive care unit (NICU).\nUpon arrival at the NICU, the infant was noted to have multiple congenital anomalies. Both hands exhibited brachydactyly and hypoplasia of the nail beds of the fifth digits the left hand lacked the distal phalanx of the second digit. Both feet exhibited oligodactyly of the fifth digits, with right 2-3 syndactyly and left 2-3-4 syndactyly. Bilaterally, the medial malleolus at the tibial insertion was abnormal, with circumferential narrowing of the lower leg. In the lumbosacral region, there was a caudal appendage, 3 cm x 0.5 cm, lateral and 2.5 cm to the right of midline with no apparent bony involvement (Figure 1).\nThe infant had multiple imaging studies while in the NICU. Head ultrasound, renal ultrasound, and echocardiogram were normal. A skeletal survey confirmed the limb abnormalities noted at the physical exam. A spine ultrasound showed that the conus medullaris terminated at L2-3 (lower limit of normal) and had a thickened filum with decreased oscillation. Magnetic resonance imaging of the spine revealed a small syrinx at the distal thoracic cord. There was an elongated soft tissue appendage (caudal appendage) emanating from the level of the right iliac crest and extending inferiorly along the right gluteal region. It did not appear to involve or extend from the ileum or iliac crest. There was evidence of a central fibrous structure, but likely not fascial nor cartilaginous.\nPediatrics subspecialties including genetics, orthopedics, neurosurgery, general surgery, and plastic surgery were consulted during the NICU hospitalization. Genetics recommended obtaining a chromosomal microarray and outpatient follow-up. The surgical subspecialists recommended no acute interventions and outpatient follow-up. The remainder of the patient's 6-day hospitalization was unremarkable. She had jaundice but did not require phototherapy. She fed well and was near birth weight at the time of discharge.\nThe infant had multiple follow-up appointments with pediatric subspecialists over the first year of life. At 6 months of age, she was seen by a pediatric plastic surgeon, at which time the caudal appendage measured 6.5 cm x 1.5 cm (Figure 2). Additionally, there was a diffuse soft tissue mass deep to the appendage measuring 7.5 cm in diameter. Excision of the caudal appendage was scheduled for 1 year of age. Repair of the syndactyly on the left and right feet was not recommended at the time because the risks outweighed any benefit. She was noted to have plagiocephaly and torticollis, which were being treated with physical therapy.\nAt 6 months of age, she was also seen by an orthopedic hand surgeon. Repeat X-rays of both hands were obtained and showed no change in the abnormalities previously seen on imaging. Upon evaluation, the decision was made to offer surgical webspace deepening with syndactyly release and possible full-thickness skin grafting involving the left ring and small fingers:to be coordinated with the caudal appendage excision.\nChromosomal microarray results were non-diagnostic but showed a small deletion that included EPHA3, which has no associated phenotype. There was no consanguinity. At the 6-month follow-up, the geneticist concluded that findings were consistent with amniotic band syndrome.\nAt 1 year of age, plastic surgery removed the caudal appendage and underlying soft tissue mass. Skin was taken from the appendage for grafting during the hand surgery repair. Gross and histologic examination of the excised caudal appendage and underlying mass revealed skin and subcutaneous mature fibroadipose tissue. After the appendage and mass were excised, the orthopedic hand surgeon performed full separation of the fourth and fifth digits of the left hand, with full-thickness skin grafting; a cast was placed on the left upper extremity.\nThe patient was evaluated by a general pediatric orthopedic surgeon shortly after the procedures described above. Radiographic imaging at that time showed no changes in the abnormalities of her feet bilaterally. Given that the patient was not experiencing functional limitations due to the toe abnormalities, observation was recommended. Of note, she was found to have bilateral acetabular dysplasia, for which she was fitted with an abduction brace.\nPostoperative follow-up with the pediatric orthopedic hand surgeon showed appropriate wound healing at the site of the syndactyly release and skin grafting, with no evidence of infection. She had full digital range of motion at that time.",
"gender": "Female"
}
] |
PMC9513563
|
[
{
"age": 93,
"case_id": "PMC8437821_01",
"case_text": "A 93-year-old Japanese man with moderate aortic stenosis, fever, and disturbed consciousness was transferred to the emergency department. His measured vital signs were: body temperature, 41.4 C; blood pressure, 113/54 mmHg; pulse rate, 124 beats/min; oxygen saturation, 99% (under 90% oxygen inhalation); and Glasgow coma scale, E2V1M4 (seven points). A physical examination revealed crackles in his right lower chest, and laboratory findings revealed his white blood cell (WBC) count (14.8 x 103/muL; 74.4% neutrophils), C-reactive protein (CRP) concentration (13.0 mg/dL), prothrombin time-international normalized ratio (1.41), activated partial thromboplastin time (36 seconds), and fibrinogen concentration (475 mg/dL). Chest radiography showed homogeneous opacity consolidation in the right mid and lower zones (Fig. 1A), and chest CT showed consolidation, with an air bronchogram in the middle lobe of the right lung (Fig. 1B).\nHence, the patient was admitted with a diagnosis of pneumonia and treated with intravenous sulbactam/ampicillin (3 g every 8 h). A sputum culture obtained upon admission was positive for both Klebsiella pneumoniae and Pseudomonas aeruginosa; the latter was believed to have settled in his respiratory tract and not be pathogenic. On day 9, the patient's chest CT showed necrosis inside the consolidation; we continued intravenous sulbactam/ampicillin (3 g every 6 h) and diagnosed a lung abscess. Additionally, we administered intravenous ciprofloxacin (200 mg every 24 h), given that Pseudomonas aeruginosa was considered to be related to the lung abscess. Over the following days, the patient's general status improved, including defervescence of the fever with decreases in his WBC counts and CRP levels. On day 29, the patient suddenly demonstrated massive hemoptysis. The following day, MDCTA indicated an enhanced nodule inside the abscess, suggestive of a PAP (Fig. 2A and B). We urgently performed pulmonary angiography, which confirmed the presence of a PAP (Fig. 2C). We guided a 5-Fr Goodtec(R) angiographic diagnostic catheter (Goodman Co., Ltd., Nagoya, Japan) and a 1.7-Fr Nadeshiko(R) micro-catheter (JMS, Shinagawa, Japan) to the PAP and subsequently performed embolization with two 0.018-inch embolization coils (3-2 and 4-2 mm coil diameters) (Tornado(R); Cook Medical, Bloomington, IN), Histoacryl(R) (B. Braun Aesculap, Melsungen, Germany), and Lipiodol(R) Ultra Fluid (Guerbet, Villepinte, France) (Fig. 2D).\nOn day 35, MDCTA revealed a collapsed PAP, and the patient was discharged on day 45. Approximately 2 months after the embolization, the patient had not experienced recurrent hemoptysis, and a repeat chest CT was unable to detect the abscess (Fig. 3).",
"gender": "Male"
}
] |
PMC8437821
|
[
{
"age": 31,
"case_id": "PMC3934774_01",
"case_text": "A 31-year-old white male with a known history of colon carcinoma was referred to the Interventional Pulmonary service for right lower lobe infiltrates and mucous plugging on computed tomography (CT) with concern for pneumonia (fig. 1). Bronchoscopy was performed revealing a broad based mass completely obstructing the bronchus intermedius (fig. 2). It was possible to pass a probe into the right lower lobe, and subsequent photoablation and mechanical debulking revealed that the mass was arising near the origin of the superior basal segment of the right lower lobe (RB6) and could be resected (fig. 3). Pathology confirmed that this was consistent with the patient's known primary colon carcinoma.",
"gender": "Male"
}
] |
PMC3934774
|
[
{
"age": null,
"case_id": "PMC8580735_01",
"case_text": "A female patient presents with a perineal finding, which we suspected was a posterior anal duplication ( Fig. 1A, B ). The native anus, located anteriorly, appears to be of normal caliber and surrounded by the sphincter muscle complex. The abnormal orifice is located at the 6 o'clock position, posteriorly. When probed ( Fig. 1B ), it appeared to be communicating with anal canal distal to the dentate line and just proximal to the anal verge. Plain film anteroposterior pelvic X-ray shows a sacral abnormality ( Fig. 1C ). A magnetic resonance imaging (MRI) of the pelvis demonstrated a presacral mass consistent with an anterior meningocele and a conus at L2 but without spinal cord tethering ( Fig. 1D ). These features suggested that there is an ACD as part of a CS. Genetic testing was provided to the family, given the CS.",
"gender": "Female"
}
] |
PMC8580735
|
[
{
"age": 83,
"case_id": "PMC3542952_01",
"case_text": "Here, we report a case of an 83-year-old Hispanic male with end-stage renal disease (ESRD) on dialysis three times a week who presented to the emergency department with the chief complaint of bilateral lower extremity weakness. The patient noted the weakness in his leg after having his early dinner around 3PM. He first noticed weakness in his knee joint and later he had trouble getting out of his chair and walking to the restroom. Initially he managed to walk with help. Over the next several hours the weakness in his legs persisted and became so severe that he decided to come to the hospital.\nThe patient stated that he had similar problems 3 days prior to presentation and on the day of his dialysis and the symptoms resolved after a 3-hour dialysis. Prior to these events and in between the two episodes the patient had normal, age appropriate activities of daily living. He walked without help and without any difficulty.\nHis past medical history included was significant for end-stage renal disease on hemodialysis three times a week, hypertension, and coronary artery disease with stent placement, myocardial infarction, and seizure disorder.\nThe patient had undergone a colectomy for perforated bowel with colostomy several years ago.\nThe patient denied cough, fever, diarrhea, and change in bowel or urinary habits. There was no prior history of trauma.\nHis home medication list included Aspirin 81 mg per day, Clopidogrel 75 mg per day, Simvastatin 40 mg per day, Metoprolol 25 mg per day, Multivitamin one tablet a day, folic acid one tablet twice a day, Calcium acetate 667 mg two tablet with each meal daily, Phenytoin 100 mg twice a day, and Omeprazol 20 mg per day.\nThe review of systems was significant for a recent history of new-onset seizure that required intubation for air way protection. Patient was admitted to Medical Intensive Care Unit (MICU). Patient was later discharged home on Phenytoin. Shortly before this admission, patient has presented to the hospital multiple times with serum potassium levels as high as 8.3 milliEquivalents/liter (mEq/L).\nPhysical examination was remarkable for bilateral lower extremity weakness pronounced at the hips (motor strength 2/5 in both legs). Furthermore, cogwheel rigidity was appreciated bilaterally, more pronounced in the knee joints. Sensory system examination and the reflexes were within normal limit. No saddle anesthesia was appreciated on neurological examination. Motor strength and cranial nerve examination were essentially unremarkable.\nECG revealed peaked T-wave and the serum chemistry study was remarkable for potassium of 7.8 mEq/dL (Figure 1(b)).\nA portable chest radiograph showed no acute infiltration or fluid overload.\nThe patient's diet includes rice, beans, pork chops, beef, chicken, and salad.\nIn the emergency department, the patient was given 10 cc of Calcium gluconate, 5 units of regular insulin, 25 cc of Dextrose 50%, and 60 mg of oral Sodium polystyrene sulfonate immediately based on the ECG and laboratory abnormalities.\nPatient was attached to the monitor and observed with serial neurological exam, ECG and serial labs.\nAfter an hour, patient's weakness and cogwheel rigidity partially improved and the patient was able to stand with help. The patient was transferred to the MICU service for close monitored observation. Patient was subsequently dialyzed. Repeat laboratory values and the ECG returned to previous values (Figures 1(a) and 1(c)), and the patient was able to stand up and walk without difficulty maintaining his preevent status.",
"gender": "Male"
}
] |
PMC3542952
|
[
{
"age": 21,
"case_id": "PMC9391998_01",
"case_text": "Patient information: a healthy 21-year-old Saudi man without relevant medical, family, and psychosocial history was stabbed with a knife by an unknown person on the left side of his lower neck around 7 pm on July 13, 2021, and presented to the nearest Al-Aflaj Hospital emergency department by a private vehicle. At Al-Aflaj Hospital, he was hemodynamically stable with active bleeding from the wound. The initial trauma resuscitation was done according to the Advanced trauma life support (ATLS) protocol. In the emergency department, they intubated him to control the airway, applied pressure dressings over the wound, and inserted a left intercostal tube (ICT) to drain the hemothorax. He was then shifted to the operating room (OR) immediately. The general surgeon extended the supraclavicular wound and applied multiple bulldogs (vascular clamps) to get temporary bleeding control (Figure 1). The patient was then transferred to KSMC trauma center as a life-saving case for definitive surgical management.\nClinical findings: the patient arrived at KSMC at 02:30 AM on July 14, 2021. The emergency department physician activated the trauma team, and the trauma team evaluated the patient immediately. On presentation, he was intubated and mechanically ventilated, with oxygen saturation of 100%. His heart rate was 92 beats per minute, and his blood pressure was 109/63 mmHg without isotropic support. He was sedated with reactive pupils. His left hand was cooler than his right hand, but well perfused (oxygen saturation 98-99% in all fingertips). There was no palpable pulse, but a Doppler signal was present in his left upper limb. Chest X-ray showed a left hemothorax (Figure 2 A), and the left ICT drained 700 ml of blood. The venous blood gases showed a pH of 7.35, bicarbonate of 21.7, PCO2 of 36.1, a base deficit of 3.4, lactate of 2.2, and hemoglobin of 7.6 gm/DL. The massive transfusion protocol was activated, and the OR personnel was alerted.\nTimeline of current episode: the patient was stabbed in the left neck in the evening at 7 PM on 13 July 2021 and presented to KSMC in the early morning at 02:30 AM on 14 July 2021. After initial trauma assessment, resuscitation, and investigations, he was taken to the emergency OR on the same morning at 5 AM. He was discharged from the hospital on 25 July 2021 and had an outpatient clinic follow-up on 2 August 2021.\nDiagnostic assessment: the patient was hemodynamically stable. He was shifted for computed tomography (CT) brain and CT angiography (CTA) for the chest, neck, and left upper limb. The CT brain was unremarkable. The neck and upper limb CTA showed a complete cutoff at the left SCA after its origin. A severe metallic beam-hardening artifact was causing difficult evaluation of the second part of the left SCA. There was also a hematoma surrounding the left axillary vein with a patent lumen (Figure 2 B). The left AA and brachial artery appeared patent. There was also a left moderate to a large amount of hemothorax (Figure 2 C). After returning from the CT, the patient became hypotensive and a transient responder to fluid resuscitation in the emergency department. The left intercostal drain output increased to 1.2 l in the next 2 hours.\nDiagnosis: hemodynamically unstable penetrating left subclavian vessel injury.\nTherapeutic interventions: the patient was shifted immediately to the OR. Intraoperatively, a left supraclavicular incision with clavicular division was performed. Proximal control of the left SCA was difficult, and there was evidence of continuous blood oozing in the chest cavity. He became unstable on the OR table, requiring inotropic support to maintain hemodynamics despite ongoing blood transfusion. Immediate median sternotomy was performed (Figure 3). Two to three liters of blood were evacuated from the left chest cavity. The ligation of the injured subclavian vessels achieved hemostasis. The left upper limb showed good perfusion throughout the procedure, as evidenced by good pulse oximetry signals. His left upper limb was not significantly swollen, and there was no emergent sign of compartment syndrome. Therefore, we did not proceed with upper limb fasciotomy. The patient received seven units of packed red blood cells, four units of fresh frozen plasma, and four units of platelets during the procedure. Postoperatively, he was shifted to the intensive care unit for close monitoring.\nFollow-up and outcome of interventions: his postoperative course was uneventful. After gradual weaning from inotropes, he was extubated on the second postoperative day. He was moved to the general ward the following day. The ICT was removed on the ninth postoperative day. The limb was mildly swollen compared to the right limb, perfused throughout, and there was no neurological deficit. A follow-up CT angiography showed postsurgical intervention, with a finding of ligation of the proximal left SCA. Refilling of the SCA s distal segment and its branches was noted down to the left upper limb (Figure 4 A). On the eleventh postoperative day, the patient was discharged with advice to use left upper limb compression stockings (class 2) for swelling. The outpatient clinic s follow-up showed a well-perfused and neurologically intact left upper limb. His left upper limb swelling had reduced significantly and become almost normal. The chest radiograph was also unremarkable (Figure 4 B).\nPatient perspective: the patient had no complaints when he was examined in the clinic following surgery, and the checkup was unremarkable. He conveyed his heartfelt appreciation for the surgical team.\nInformed consent: written informed consent was obtained from the patient for publishing the article.",
"gender": "Male"
}
] |
PMC9391998
|
[
{
"age": 54,
"case_id": "PMC6514481_01",
"case_text": "Individual 1, is a 54-year-old patient with stage IV non-small cell lung cancer and cerebral metastases. He has OI type 1 (classic non-deforming OI with blue sclerae), which was diagnosed early because of a fractured clavicle at birth and confirmed with DNA analysis (c.588 + 5G>A pathogenic variant in the COL1A1 gene). The clinical manifestations consisted of multiple fractures of the pelvis and the long bones (more than 10 since childhood), the presence of blue sclerae and dentinogenesis imperfecta. The most recent DEXA scan showed low BMD with a T-score of -2.3 for the lumbar spine and a T-score of -3.5 for the left hip. There was a positive family history with his mother and sibling being affected with OI type 1 as well.\nThe patient was diagnosed with cT3N2M1c non-small cell lung cancer with ipsilateral and mediastinal lymph nodes and multiple brain metastases after analysis for headache, dysarthria, apraxia and memory loss. Because of the relatively young age of the patient and absence of extracranial metastases, the multidisciplinary tumor board decided to treat the brain metastases with stereotactic radiotherapy for a long-lasting effect, but with a palliative intent.\nDepending on the volume of the metastases, a stereotactic dose of 1 x 18 Gy, 1 x 21 Gy or 1 x 24 Gy was prescribed for five metastases using Volumetric Modulated Arc Therapy (VMAT) with three 6 MeV photon Flattening Filter Free (FFF) beams. In this example, the adjacent skull received a mean dose of 7 Gy without special dose planning restrictions on the skull (Fig. 1).\nBecause of the high complications risk, due to chest deformities that may cause respiratory problems, cervical fragility that may lead to difficulties during intubation and due to possible hyperthermia caused by anesthesia, surgery for the lung tumor was not recommended. The patient was therefore referred for sequential radiotherapy. A dose of 25 x 2.6 Gy was prescribed to the lung tumor and the hilar and mediastinal lymph nodes, using one 10 MeV photon VMAT arc. No extra radiotherapy dose planning constraints for the bone of the chest or other tissue types were prescribed.\nDuring and after brain irradiation and lung radiotherapy, the patient did not experience any extra acute side effects or difficulties regarding OI.",
"gender": "Male"
},
{
"age": 46,
"case_id": "PMC6514481_02",
"case_text": "Individual 2 is a 46-year-old patient with osteogenesis imperfecta, who was diagnosed clinically with OI type 3 or 4 at the age of 1 year. This diagnosis has not been confirmed with DNA analysis. She sustained multiple fractures for which she underwent multiple surgical procedures including osteotomies. Because of extensive bone deformities, she has been wheelchair-bound since childhood. The most recent DEXA scan showed low BMD of the lumbar spine with a T-score of -6.0. In addition to the bone fractures, this patient is also under surveillance of the cardiologist because of a mildly dilated ascending aorta and aortic root of 38 mm.\nAt the age of 12, the patient experienced painful swelling of his left femur due to hyperplastic callus formation after a femoral fracture. To slow down and eventually resorb the callus formation, the patient was referred for radiotherapy. The left femur received a prescribed dose of 5 x 4 Gy, using anterior posterior-posterior-anterior (AP-PA) fields of 6 MeV photons to the whole left femur. Shortly after the treatment, the swelling and pain in the left femur decreased.\nTwenty-three years later, at the age of 35 years, the patient was again referred to the radiotherapy department, now because of pain due to callus formation of the medial side of the right femur. A dose of 5 x 4 Gy was prescribed to the right femur using an AP-PA field of 10 MeV photons (Fig. 2). During and after the treatment no acute side effects were noticed and again the pain and swelling responded very well to the radiotherapy.\nAt age of 59, the patient was again referred to the radiotherapy department because of recurrent pain of his right femur. A radiotherapy planning-CT was conducted, but because of the mild character of the pain, and after shared decision making with the patient, radiation therapy was eventually not performed.\nWe aimed to measure effects of radiotherapy on BMD of the 2 patients in skull and femur. Although the gold standard for measuring BMD is the DEXA scan, several reports show Hounsfield Units (HU) derived from CT scans to be an accurate estimate for BMD. To put findings in perspective, mean HU of ten occipital skulls and ten right femora of healthy patients of matching age were assessed.\nComparison in mean HU of exactly matched areas of bones of our patients could be made prior and post radiotherapy, using the radiotherapy planning-CT scans that were conducted sequentially in both patients. In individual 1, mean HU were measured in the high dose (1 x 7 Gy) area of the adjacent skull to the occipital brain metastasis (Fig. 1). In individual 2, mean HU were measured in the target area of the right femur (Fig. 2) and in a non-irradiated area of the right femur. See Table 1 for the results.",
"gender": "Female"
}
] |
PMC6514481
|
[
{
"age": 23,
"case_id": "PMC4735458_01",
"case_text": "A 23-year-old African American woman developed an abscess in the right anterior chest wall just lateral to the sternum 1 month after a normal vaginal delivery under epidural anesthesia. She was admitted elsewhere and underwent incision and drainage of the abscess. A culture from the abscess grew MRSA sensitive to vancomycin (MIC less than 1), trimethoprim-sulfamethaxazole, clindamycin, tetracycline, and linezolid. She received intravenous vancomycin (MIC less than 1) for 10 days with apparent resolution. The abscess recurred in the same location 7 and 15 months after the initial episode. These recurrences were managed with incision and drainage, and oral trimethoprim-sulfmethoxazole. Cultures of the drainage consistently grew MRSA with the same susceptibility pattern. The patient reported that the wound healed with treatment each time.\nNineteen months after the initial episode, the abscess recurred and she was seen in our emergency department. Computerized tomography of the chest showed right upper and middle lobe parenchymal abnormalities suggestive of granulomatous infection, paraspinal abscess formation, periosteal thickening and osseous changes involving the 3rd to 6th vertebral bodies and right 3rd rib. She noted a mild cough. She denied back pain and neurological symptoms. Incision and drainage was performed and she was referred to the pulmonary clinic. Multiple sputum cultures were negative for bacteria and acid fast bacilli. Magnetic resonance imaging showed changes similar to those on the CT scan. She received oral trimethoprim-sulfamethazole for 5 months but repeat CT showed minimal improvement. She was admitted to the hospital for further evaluation and management.\nHer past medical history included intermittent asthma managed with albuterol inhaler as needed. She smoked one pack per day for 5 years but stopped 1 year prior to admission. She denied alcohol or drug abuse. There was no family history of recurrent infections. She was afebrile. Physical examination was normal except for a 2 cm x 2 cm fluctuant mass on the right upper chest. There was mild tenderness at the site, but no erythema. She had coarse facial features and a wide nasal bridge. Her appearance was notably different from her sister.\nComplete blood count and serum chemistries were normal except for mild eosinophilia. Drainage of the abscess grew MRSA. A tuberculin skin test and HIV testing were negative. Culture for acid fast bacilli from the abscess was negative. Serum IgE level was 1489 IU/mL (normal 0-180 IU/mL). IgG and IgA levels were mildly elevated. IgG subclasses, complement CH50, hemoglobin electrophoresis, and neutrophil oxidative burst test were normal. Computerized tomography again showed a paraspinal collection now extending from the 2nd to the 8th thoracic vertebrae, with mild bone destruction also involving the right third rib (Fig. 1).\nIntravenous vancomycin was started and continued for 5 weeks via PICC line on discharge, followed by oral linezolid for 6 months. The chest wall abscess resolved rapidly and she remained asymptomatic, but there was no improvement in the radiographic abnormalities on CT scanning.\nSix months later she was readmitted with right shoulder pain, upper back pain and fever. Computerized tomography and MRI showed enlargement of the paraspinal collection. Transesophageal echocardiography showed no evidence of endocarditis. Gallium and bone scans were normal. Under CT guidance, she underwent transcutaneous aspiration of the paraspinal collection. The drainage was grossly purulent and grew MRSA. Two weeks later, video-assisted thoracic surgery (VATS) was attempted but due to extensive adhesions was converted to open thoracotomy to permit debridement of the paravertebral collections. Her antibiotic regimen was changed to daptomycin plus rifampin for 6 weeks followed by linezolid and rifampin.\nThree months postoperatively she was improved with resolution of the back pain and a weight gain of 14 pounds. Repeat MRI with gadolinium showed significant improvement with no areas of enhancement and no residual abscess formation. Therapy was continued with oral trimethoprim-sulfamethoxazole and rifampin. A study was negative for signal transducer and activator of transcription 3 (STAT3) mutation.",
"gender": "Female"
}
] |
PMC4735458
|
[
{
"age": 90,
"case_id": "PMC8242995_01",
"case_text": "A 90 year old man was referred with a 7 cm thoracic aneurysm seen on MRI spine performed for increasing upper back pain over six months. Apart from hypertension and dyslipidaemia, he had no smoking history or any known major coronary or cerebrovascular disease. He also had no neurological signs or symptoms and was able to carry out his activities of daily living independently.\nComputed tomography (CT) angiography confirmed the 7.2 cm fusiform aneurysm of the distal aortic arch, with an ectatic ascending aortic segment measuring up to 3.7 cm in diameter and a descending thoracic aneurysm measuring 4.2 cm (Fig. 1). Arch branches had atheromatous changes but were patent without significant stenosis. The abdominal aorta was also aneurysmal at 4.3 cm but the patient did not have any abdominal symptoms or lower back pain.\nBased on symptomatology, age, rupture risk, and CT imaging, a plan was proposed for a percutaneously inserted 226 mm by 38-44 mm (diameter) custom made device (CMD) with an 8 mm diameter left common carotid artery (LCCA) fenestration and an innominate artery (IA) scallop (Fig. 2), along with occlusion of the left subclavian artery (LSA).\nDuring the procedure, access was obtained using ultrasound (US) guided puncture of the right and left common femoral arteries (CFA) for insertion of 6 and 8 F sheaths, respectively. LCCA puncture, sited above the left clavicle, was performed in a retrograde fashion with US using a 4 F micropuncture set before insertion of a 6 F sheath. Intra-arterial heparin 5000 units was administered and an arch aortogram was performed with a pigtail catheter in the ascending aorta.\nThe LSA was next occluded by deployment of a 14 x 10 mm Amplatzer Vascular Plug II, proximal to the vertebral artery origin. Next, the Cook CMD was introduced via the right groin and positioned proximal to the origin of the IA. Its preloaded wire was snared from the LCCA access to obtain through and through passage before continued deployment to expose the LCCA fenestration fully. A 10 x 27 mm BeGraft was deployed via the LCCA across the CMD fenestration and flared. The final check angiogram showed a patent IA and LCCA along with an occluded LSA origin without obvious leak. The left VA and distal SCA could be seen to be perfused via collateral flow (Fig. 3).\nHaemostasis of both groin accesses was obtained with suture tightening of prior inserted Abbott Perclose ProGlide suture mediated devices in preclose fashion. For the LCCA access, the patient's head was first rotated to the right and a single Perclose ProGlide device was inserted under fluoroscopy with standard manufacturer technique over a short Terumo 0035 wire positioned above the aortic cusps. Intra-venous protamine was given for reversal and manual compression further applied. Haemostasis was confirmed visually and using sonography. Operative time was two hours and ten minutes.\nThe patient recovered well and was discharged on post-operative day two. Follow up CT a month later showed that the stent graft, LCCA fenestration and IA were patent, and that the proximal LSA had been occluded as planned with collateral perfusion of the left VA and LSA distal to the vascular plug (Fig. 4). No endoleak was shown and the patient reported an improvement in his symptoms.",
"gender": "Male"
}
] |
PMC8242995
|
[
{
"age": null,
"case_id": "PMC10369008_01",
"case_text": "In this section, we summarise what is known of the case. Ramsey was transferred from his home in Cambridge to Guy's Hospital on 10 January 1930 for investigation and management of worsening jaundice. His medical history was essentially unremarkable. He had neonatal jaundice and ill-defined \"digestive\" issues as a child. But by adolescence, he was a competent athlete and as an adult appeared to enjoy good health. He was a tall man tending towards weight gain:in his early 20's, he weighed nearly 17 stone: 240 lbs/108 kilos. Assuming his height was around 6 feet 4 (1.93 metres), his body mass index was about 29: overweight but not obese. He was physically active, including vigorous hiking and wild swimming. He was described as having \"tremendous vitality\". He was a member of the Bloomsbury set:a group of intellectuals and artists who lived life to the full and were known to have open marriages, as did Ramsey and his wife, the former Lettice Cautley Baker, who became a renowned photographer. While Lettice had multiple sexual partners, Ramsey appears to have had only one other: Elizabeth Denby, a senior civil servant and social housing reformer.\n In mid-November 1929 Ramsey developed an acute febrile illness after a College feast (a formal occasion involving many courses of rich food, washed down with much alcohol). Nobody else attending the feast is known to have become ill, and there seem to have been no sick contacts, though Lettice developed a brief febrile illness in late November from which she recovered uneventfully. Within 10 days of the onset of fever, Ramsey developed jaundice with malaise, but no abdominal pain and no signs of bleeding or bruising. Progressive jaundice and malaise persisted for over six weeks. His cognitive status remained more or less normal throughout this period (no suggestion of encephalopathy), though he sent notes apologising to academic colleagues that he was unable to focus on his work.\nOn January 10, 1930 Lettice contacted her uncle, Robert Davies-Colley, a senior surgeon at Guy's Hospital, who arranged for Ramsey's admission. He was evaluated by a physician and a surgeon who apparently concurred on proceeding with a laparotomy to evaluate for biliary stones or other treatable cause of obstruction. Lettice wrote to Wittgenstein with an account of her understanding on Wednesday, January 15:\nFrank was operated on Saturday afternoon, because, after 8 weeks in bed he showed no improvement. My uncle, who's a surgeon, came from London to see him and thought that he should be brought to London to Guy's hospital. So we took an ambulance & came. Then there was a consultation with a physician (as opposed to a surgeon) & firstly they agreed that an op would be best. They found his gall bladder very inflamed & are draining it. There was no stone. I have seen Frank twice today, for a few moments. He is still too much under the effect of drugs to like any company . . . The dose of morphia that is always given after an op had a bad effect on him & he had to have something to counteract it. ( : 418)\nThe above quote contains what appears to be an error by Lettice, since the actual date of the operation was Tuesday 14 th; Ramsey died on Sunday 19 th. While the surgery did not reveal an obstruction, \"the whole liver and kidneys were found in a frightful condition\". ( : 425)\nThe records suggest that a partial autopsy (\"P.M. Examination of the abdominal organs\") was performed but no findings from this are available. The death certificate simply read:\n Cause of Death: 1 (a) Cholangitis (b) Infection of smaller bile ducts\n 2 Hepatitis.\n P.M. Examination of abdominal organs\nLettice said that Frank \"died of an infected liver\". Davies-Colley told Ramsey's father it was \"a degenerative disease of the liver which was bound to end fatally\". Lionel Penrose (father of British genetics and himself a medical doctor) was one of Ramsey's best friends, and apparently had a different view. He would later allude to the possibility that medical malpractice was the cause of death and he was wracked with guilt about not having been around to step in and save his friend ( : 425).",
"gender": "Male"
}
] |
PMC10369008
|
[
{
"age": 9,
"case_id": "PMC7712411_01",
"case_text": "In June 2016, a 9-year-old girl (elementary school student of Caucasian race, weighing 42 kg) was referred for consultation with an interdisciplinary team in the Vascular Anomalies Center of Guarneri Clinic (Rome, Italy) to address a painful and progressively increasing mass in the right thigh. The consultation team included vascular surgeons, interventional radiologists, hematologists, oncologists, plastic surgeons, and pathologists.\nThe patient had an unremarkable medical history.\nAt clinical examination, the girl showed functional impairment of the right knee (limited flexion of 30%), muscle contracture, and localized pain (Figure 1). In the days before her hospitalization, the reported daily mean visual analog scale (VAS) score for chronic pain was 7 +- 1. Neurologic examination revealed normal patellar tendon reflex, full strength of the surrounding musculature, and normal superficial and deep sensitivities. Dermatological examination revealed normal skin characteristics.\nIt was reported that no therapeutic procedure had been carried out previously, and the pain symptoms had been controlled with pain relievers, when necessary.\nLaboratory blood tests for coagulation were performed, according to the high rate of variations in coagulation states that are found in patients with vascular anomalies. No abnormalities were observed in our young patient.\nIn addition to clinical signs, diagnosis of FAVA was based on both ultrasound and magnetic resonance imaging (MRI) examinations. Both imaging modalities showed a complex mass of 11 cm x 8 cm x 8 cm in the right thigh, a finding compatible with FAVA malformation, located in the vastus medialis muscle and marginally in the rectus femoral muscle. The T1-weighted MRIs showed heterogeneous and hyperintense signal related to the fat component (Figure 2), and the injection of intravenous contrast clearly revealed the malformed venous component. The solid mass was found to have partially replaced the normal vastus medialis muscle fibers, with fibrofatty overgrowth and varied appearances of clusters of thick-walled muscular vessels; multiple soft-tissue planes were found to be involved as well, showing hypoechoic intralesional clots or development of phleboliths, with low-flow venous parameters that were also barely detectable by Doppler sonography.\nFollowing discussion and consensus by the interdisciplinary team, differential diagnoses of other commonly confused vascular lesions (i.e., venous or arteriovenous malformations or vascular tumors) were ruled out.\nThe primary end point of this patient's treatment was radical FAVA treatment. The secondary end points were pain relief (assessed by VAS) and recovery of functional impairments.\nPrevious clinical experiences in the literature describe the frequent use of sclerotherapy and percutaneous cryoablation procedures for FAVA and the high risk of blood loss and nervous system damage related to primary surgery in FAVA. Thus, the multidisciplinary team proposed an original hybrid treatment strategy of primary percutaneous ethanol embolization of the FAVA and a secondary surgical excision of the mass.\n Informed consent statement: Written consent was obtained from both parents of the patient, because she was a minor at the time of hospitalization.\n Institutional review board statement: The Institutional Review Board of Guarnieri Clinic provided approval for this study (IRB No. 19/1721).",
"gender": "Female"
}
] |
PMC7712411
|
[
{
"age": 84,
"case_id": "PMC3347879_01",
"case_text": "A case study illustrates differences in structural and functional imaging findings with mild neuropsychology findings (please refer to Case 3 inside table 4). For this 84-year-old White woman, the neuropsychology test results, presented in figure 1, show some mild decreased performance on measures of executive function (CLOX1, FAS, TMT B), speed (TMT A), working memory (WAIS Digit span), and on the attention index score of the RBANS. No depression (GDS) or decreased daily functioning (PCS, MCS) was reported, beyond difficulty with managing a large house. While the decreases in cognitive performance are mild, they include areas typically affected by cerebral small vessel disease.\nThe MRI report for this case study described no significant intracranial abnormality, and no abnormality of perfusion. Nonetheless, the SPECT imaging report noted a mild to moderate multifocal pattern of hypoperfusion in the white matter, patchy hypoperfusion in the left lenticular nucleus, and regional hypoperfusion in the anterior temporal cortices (trace to mild) with some generalized increased heterogeneity of cortical perfusion bihemispherically, all consistent with small vessel disease. No pattern of hypoperfusion on SPECT was seen that would be suggestive of large vessel disease, neurodegenerative disease, or psychiatric disorder. This case illustrates the potential usefulness of functional imaging in identifying changes in perfusion in the absence of structural abnormalities identified on MRI.",
"gender": "Female"
}
] |
PMC3347879
|
[
{
"age": 76,
"case_id": "PMC5698921_01",
"case_text": "A 76 year old man was admitted to our University Hospital \"Ospedale Vittorio Emenuele\" and seen in our surgical department. He presented with a 3 cm tumefaction of the right hypochondrium, surrounded by an erythematous skin area, with small secretion of a yellowing-green material, attributable to a bile leaking ( Figure 1). The patient's medical history was clear from previous medical disease and surgery; he only referred to previous upper right quadrant pain and nonspecific dyspeptic disorder.\nAn abdominal ultrasound examination revealed the presence of a lesion in the aponeurotic muscle wall, but the possible underlying pathology was unknown. No other signs of pathology were observed. Routine blood work was normal.\nAbdominal computed tomography scan with contrast media showed the gallbladder walls had diffuse thickened and blurred edges, and the right and transverse abdominal muscles were almost covered and embedded with minute hypo-dense ailments compatible with relapsing phlogistic processes ( Figure 2). Hepatobiliary MRI detected that the gallbladder had anteriorly shifted and adhered to the right abdominal muscles. The side wall showed a break through with consensual purulent collection, which extruded through the thick abdominal wall ( Figure 3). Eventually, several different-sized stones were revealed inside the cholecyst. Consequently, a diagnosis of spontaneous cholecystocutaneous fistula was made.\nThe patient underwent cholecystectomy surgery 10 days after diagnosis, with an open laparotomy with en block aponeurotic muscle, skin and fistula orifice excision. In order to have a good abdominal wall reconstruction, a properly shaped Prolene Prosthesis was placed using fibrin glue - . The patient received broad-spectrum antibiotics after surgery (Piperacillin/Tazobactam 4.5 g, 3 times a day for 5 days via IV).\n Considering the patient's good general condition and good post-operative course, discharge was on the seventh day post-surgery. Surgical wound re-dressing was made one week after discharge in our facility, where the surgical stitches were removed. Scar appearance was good and without concern. No other dressing was needed and the scar was covered with a bandage. The first follow-up was scheduled 15 days after discharge, second one 60 days from discharge. For both follow-ups, routine blood work and surgical scar checking were performed, the results of which were normal and the scar was healing normally. \nA histological examination confirmed the diagnosis of chronic cholecystitis with gallstones and cholecystocutaneous fistula.",
"gender": "Male"
}
] |
PMC5698921
|
[
{
"age": 32,
"case_id": "PMC10395095_01",
"case_text": "A 32-year-old lifelong non-smoker Caucasian woman was referred to the G.B. Morgagni:L. Pierantoni Hospital in April 2023 due to a severe respiratory failure caused by PAP syndrome complicated by a right pneumothorax.\nSince an early age, the patient has been followed by the pediatric department of her hometown hospital, where in 2002 she received the diagnosis of lysinuric protein intolerance. The diagnosis was definite because of the patient's clinical and biochemical situation, as well as molecular analysis, which revealed the presence of mutations in the SLC7A7 gene. The patient also has a homozygous mutation of the MTHFR gene, which codes for methylenetetrahydrofolate reductase, resulting in high homocysteine levels which lead to blood vessels damage and finally strongly increase the risk of blood clots.\nHer past medical history was also remarkable for a Fanconi-like tubulopathy, low stature secondary due to GH deficit, hyperlipidemia, osteoporosis, and gastritis; from 2010, the patient suffered a progressive accumulation of lipoproteinaceous material in the lungs, resulting in dry cough and slight exertional dyspnea, with diffuse ground glass opacities (GGOs) on HRCT scans, which remained stable during radiological follow-up. On the last follow-up visit, only 1 month previously, the last pulmonary function tests (PFTs) revealed a restrictive respiratory disorder (forced vital capacity:FVC: 57% predicted; forced expiratory volume in the first second:FEV1: 55% predicted; Tiffeneau Index 89% predicted; the patient was not able to perform diffusion capacity for carbon monoxide:DLCO).\nThe patient was referred to the G.B. Morgagni:L. Pierantoni Hospital in April 2023 due to a rapid onset of acute respiratory failure, complicated by a right pneumothorax. Two weeks before our admission, the patient experienced a respiratory tract infection treated with broad-spectrum antibiotics and chest tube insertion.\nOn admission, physical examination revealed a blood pressure of 120/75 mmHg, a heart rate of 85 bpm, a respiratory rate of 26 breaths/min, and a hemoglobin oxygen saturation of 78% on oxygen (FiO2 40%) delivered through the nasal cannula; she was afebrile. Subsequently, arterial blood gas (ABG) analysis showed a severe acute type 1 respiratory failure (pH 7.37, pO2 34.5 mmHg, pCO2 40.9 mmHg, PaO2/FiO2 85). The patient was quickly adapted to a high-flow nasal cannula (HFNC) with a FiO2 of 55% and a flow of 60 L/min, which rapidly improved gas exchange and increased hemoglobin oxygen saturation to 91%. Chest auscultation revealed severely reduced respiratory sound and bilateral crackles, while cardiac auscultation was normal. Chest x-ray (Figure 1) showed a right apical pneumothorax (with chest tube previously inserted) and extensive diffuse bilateral consolidations with bronchus sign.\nSubsequently, high-resolution computed tomography (HRCT) of the chest (Figure 3A) showed areas of diffuse ground glass with superimposed interlobular septal thickening (\"crazy paving\" pattern) and a right pneumothorax.\nBlood tests showed increased neutrophil count (WBC 16.7 x 109/L, neutrophils 14.9 x 109/L) and reduced hemoglobin levels (Hb 8.0 g/dl). LDH was markedly elevated (1,404 U/L), while CRP and procalcitonin were within normal range.\nTherefore, the decision was made to proceed with WLL, which was performed on two different days. Under general anesthesia, airway management and lung isolation were achieved using a double-lumen endotracheal tube (DL-ETT). Bronchoscopy confirmed the correct placement of the DL-ETT; a bronchoalveolar lavage revealed a foamy, thick, whitish material, which on rapid on-site evaluation (ROSE) was shown to contain lymphocytes and acellular proteinaceous eosinophilic material.\nAfterward, the patient was positioned on left lateral decubitus, and single lung ventilation was set with FiO2 100%. During the first procedure, a total of 5,500 mL, in aliquots of 1,000 mL, of warm (37 C) sterile saline solution (0.9% NaCl) were instilled in the right lung (Figure 3B). At each cycle, physiotherapists performed chest percussion maneuvers to optimize proteinaceous fluid clearance over a period of 2 min when the maximum volume has been infused and during the drainage phase.\nFluid input and output were carefully monitored and registered. However, for safety reasons, the procedure was prematurely discontinued because the patient showed a SpO2 of 42% during the fifth aliquots infusion, probably due to a rapid worsening of mismatch in ventilation/perfusion ratio (V'A/Q') during the filling phase.\nThe patient was immediately supinated, and bilateral lung ventilation was restored with a rapid increase of SpO2 up to 91%. The ABG performed showed severe respiratory acidosis (pH 7.07, pO2 94.2 mmHg, pCO2 114.5 mmHg, HCO3- 25.3 mmol/L); blood pressure was 115/65 mmHg, heart rate 98 bpm. Subsequently, the patient was admitted to the intensive care unit and, after the normalization of gas exchange and resolution of respiratory acidosis, extubated in 36 h. During the second procedure, a complete left lung lavage and a partial right lung lavage were performed (Figure 2). The second procedure was better tolerated, and after 24 h ICU, the patient was extubated. In total, 8 L of saline solution (for the right lung) and 7 L of saline solution (for the left lung) were needed to complete the lavage. Chest HRCT (Figure 3C) performed after the WLL showed a dramatic improvement of the GGO and the appearance of a left pleural effusion, possibly secondary to intraoperative hydro trauma, which rapidly responded to diuretic therapy with furosemide.\nThe patient was discharged without the need for long-term oxygen, with a SpO2 of 97% while breathing room air.",
"gender": "Female"
}
] |
PMC10395095
|
[
{
"age": 38,
"case_id": "PMC9560591_01",
"case_text": "A 38-year-old woman presented with a slight proptosis. CT scanner and MRI revealed an extra-axial, hyperostotic tumor, suspected to be a spheno-orbital meningioma (Fig. 7 and A; Fig. 7 and B). Observation was initially decided. After 1-year, the tumor grew significantly with worsening of periorbital pain and exophthalmia. There was no history of progestin intake. Ophthalmological examination was normal. An eyebrow incision (Fig. 8 and A) with a crescent-shaped orbital rim craniotomy was performed (Video 1). The eyebrow incision and the entire surgery were performed under the microscope without the need of an endoscope. The endoscope was used at the end to explore the surgical cavity. The small craniotomy was reattached to the skull with miniplates and screws.\nSupplementary video related to this article can be found at https://doi.org/10.1016/j.bas.2022.100891\nThe following is the supplementary data related to this article:\nThe patient's postoperative course was uneventful, without post-operative morbidity. CT and MRI confirmed the complete resection (Fig. 7 and C). The suture was removed on postoperative day 6, and the patient was discharged in perfect clinical condition with a hardly visible scar and regression of proptosis (Fig. 8 and B).",
"gender": "Female"
}
] |
PMC9560591
|
[
{
"age": 46,
"case_id": "PMC6886636_01",
"case_text": "A right-handed 46-year-old woman with a history of previously treated peripheral venous insufficiency, and not on any daily medication, was admitted to the Emergency Department 12 hours after the sudden onset of focal hypoaesthesia of her upper left limb. She also referred a frontal, tension-type headache, of moderate intensity with no signs of intracranial hypertension. There were no other focal neurological symptoms, fever or infection, chest pain, epistaxis, haemoptysis or telangiectasias. Family diseases were denied.\nThe patient was haemodynamically stable (blood pressure 138/42 mmHg; pulse 78 bpm, regular and rhythmic). Her Glasgow Coma Scale was 15/15. Neurological examination revealed touch and pain hypoaesthesia of the left upper limb with no further findings. The patient's National Institutes of Health Stroke Scale (NIHSS) score was 1. Electrocardiogram showed sinus rhythm, without any alterations. Head CT and supra-aortic and intracranial CT angiograms were performed and revealed a recent fronto-insular right infarction.\nA stroke was assumed and the patient was admitted to the medical ward. No cardiovascular risk factors were identified during hospitalization. Immunological, infectious, endocrine and hypercoagulable states were ruled out. Magnetic resonance imaging (Fig. 1) was performed to assess the extent of cerebrovascular disease and revealed several recent cortical embolic infarctions in both hemispheres: in the bilateral fronto-insular cortex, right posterior temporal lobe and right post-central parietal gyrus. No embolic source was identified on transoesophageal echocardiogram. Venous Doppler ultrasound of both lower extremities carried out 5 days after admission revealed varicose dilatations in both popliteal veins and the right external saphenous vein, absence of the left external saphenous vein, and no evidence of thrombi in the veins.\nThe physical examination was also remarkable for labial cyanosis and discreet digital clubbing. Blood gas analysis demonstrated hypoxaemia, and an increased alveolar-arterial gradient (AaG) with no response to oxygen therapy, indicating a shunt. Platypnoea was denied, but orthodeoxia was found, with a desaturation of 4% in the supine position. Laboratory findings showed polycythaemia (Hb 17.7 g/dl, Hct 48.6%), erythropoietin (EPO) was elevated, and testing for the JAK2 mutation was negative. D-dimers were elevated at admission (894 ng/ml). Chest x-ray did not show any abnormalities (Fig. 2).\nContrast-enhanced transthoracic echocardiography (TTE) revealed a right-to-left shunt, with simultaneous opacification of the right and left cavities during the fourth cardiac cycle, indicating an extra-cardiac shunt (Video 1). Patent foramen ovale (PFO) was excluded by transoesophageal echocardiography.\nFollowing discovery of the shunt, a contrast-enhanced thoracic CT scan was performed, which demonstrated a pulmonary arterio-venous malformation in the right lower lobe, showing communication between the subsegmental branch of the right inferior lobar artery and the tributary vein of the right inferior pulmonary vein, with a diameter of 25x21 mm in the axial plane (Video 2).\nNeurological deficits stabilized, but left upper limb hypoaesthesia remained. The patient was discharged under oral anticoagulation with warfarin, and was later referred for embolization of the lesion by the Interventional Radiology department. No new events had occurred at the time of follow-up consultation.",
"gender": "Female"
}
] |
PMC6886636
|
[
{
"age": 24,
"case_id": "PMC8327232_01",
"case_text": "It is about a 24-year-old male patient suffering a dental trauma at the level of the anterior upper teeth. The patient presented with fractured upper central teeth and a mobility of the coronal fragment of tooth 12 due to the trauma.\nIn this article, we focused on the maxillary right lateral incisor, with respect to the patient constent. Inspection revealed the presence of a healthy periodontium with pulpal exposure. The retro alveolar radiograph showed a long root of the tooth with no fracture and no apical radiolucency (Figures 1 and 2). After removing the coronal fragment, we noticed a lack of supragingival tooth structure required to guarantee a reliable long-lasting restoration. The next steps consisted in evaluating the radicular length, the absence of an apical curvature, and the width of the remaining radicular and coronal walls to discuss the feasible treatment options for saving the tooth.\nAfter a global clinical examination, surgical tooth extrusion, consisting in crown lengthening technique, was performed to maintain a healthy supracrestal healthy tissue, thus offering to the patient a reliable long-term outcome. The clinical procedures involved, at first, endodontic treatment. It was conducted prior to surgical extrusion. Canal preparation was carried out using rotary instrumentation system (Revo S , Micro Mega, France). It was accompanied by intracanal irrigation using 2.5% NaOCL and 17% EDTA as a final irrigation. At the same clinical consultation, the canal was dried with sterile paper points. The root canal was filled with gutta-percha (ProTaper Universal Gutta Percha Points, Meta Biomed, South Korea) and root canal sealer, using the lateral condensation technique. The coronal seal was provisional. After 1 week, the surgical extrusion procedure was performed.\nAfter disinfection of the area using mouthwash of 0.12% of chlorhexidine (KLOREX fort, STODERMA, Tunisia), local anesthesia with 2% of lidocaine was administered. Syndesmotomy was performed using a syndesmotome, placed in both the buccal and palatal sides. A fine elevator was used to carry out tooth luxation. It was placed in the periodontal space and manipulated in a walking motion all around the tooth without causing surgical trauma. Minimally, traumatic luxation forces were applied just at the first 4 mm of the radicular structure to avoid periodontal ligament damage.\nThe tooth was carefully extruded to the desired situation using root forceps and it was placed at a level such that the fractured margin would be situated at least 3 mm from the alveolar crest, while being kept inside the socket. It is important to limit the extrusion quantity to preserve an adequate crown-root ratio that should always be inferior to 1. The tooth was maintained at the radicular portion, supposed to be kept in a supra-bony position after the procedure. A slight pressure was applied in a bucco-palatal direction, using a gauze, to obtain hemostasis and to keep the tooth in the right position. Simple interrupted sutures were placed to stabilize the tooth. A 0.3-mm diameter monofilament (violet braided of PGA Lac Synthetic Absorbable Suture, NEOFIL+) was used to achieve primary stabilization, thus obtaining a correct reorganization of the periodontal ligament fibers. After that, a semi-rigid splinting was placed using a flowable nano-hybrid composite (Reflectys Flow, ITENA, France) on the adjacent teeth. Special attention was exerted to release the interdental septum so that it would be easy for the patient to keep it clean. The patient was instructed to use a daily mouthwash with 0.12% of chlorhexidine for 1 week to thoroughly clean the area. Only analgesic was prescribed post-operatively (Figure 3). The sutures were deposed after 10 days to avoid surgical site infection. In fact, microbes adhere to the suture filament and form biofilms. The knot is the principal site of infection. Typically, they should be left in place no longer than 2 weeks. Splinting was removed 15 days post-operatively. In fact, the risk of ankylosis increases when the splint is kept for more than 3 weeks. Actually, a slight mobility during the periodontal healing period is favorable. Six weeks later, the extruded tooth mobility was clinically acceptable. In fact, the periodontal ligament acquires its characteristics 45 days post-operatively. Then, a fiber post (Fiber Post Refill Dentoclic, ITENA Clinical Dental Post, France) was placed to ensure correct height to the core preparation. It was cemented with a dual core composite cement (Dentocore Body, Core Build-up, ITENA) that was utilized as a core build-up material to rebuild the missed coronal tooth structures (Figure 4). A crown preparation was performed and a temporary crown was cemented. Six months post-operatively, impressions were taken and a final ceramic crown was placed (Figures 5 and 6). After 2-year follow-up, complete periapical bone formation is observed with a periodontal tissue repair (Figure 7).",
"gender": "Male"
}
] |
PMC8327232
|
[
{
"age": null,
"case_id": "PMC5109712_01",
"case_text": "We report a case of a man in his 80s who initially noted a lesion on his right back thought to be an infected cyst in 2014. Evaluation noted right axillary adenopathy, which prompted a biopsy of the mass and of the cyst-like lesion. Pathology demonstrated morphologic and immunohistochemical (strongly cytokeratin-20, neuron specific enolase and CD56 positive and thyroid transcription factor-1 negative) findings in both lesions consistent with MCC. Polymerase chain reaction performed on deoxyribonucleic acid extracted from formalin-fixed, paraffin-embedded tumor tissue alongside appropriate controls using a previously described protocol demonstrated that the tumor lacked detectable Merkel cell polyomavirus (MCPyV) large T antigen and small T antigen. Staging fluorodeoxyglucose-positron emission tomography/computed tomography (FDG-PET/CT) revealed lesions in right upper lung, right upper back, right axilla and right adrenal gland consistent with metastatic disease (Fig. 1a, b and c). Subsequent biopsy of the right lung confirmed metastatic MCC. Following extensive discussions regarding the implications and options, he refused chemotherapy. At that time, no clinical trial was available to him, but programmed death-1 (PD-1) inhibitor therapy was being tested on trial (ClinicalTrials.gov. NCT02267603). Nivolumab, a humanized IgG4 monoclonal anti-PD-1 antibody, was obtained from Bristol-Myers-Squibb outside of a clinical trial, and he was subsequently treated with nivolumab 3 mg/kg intravenously every 2 weeks for six cycles in 2015. Following two cycles, he had an excellent partial response on physical exam with decreased adenopathy. After five cycles, he achieved a marked partial metabolic response by FDG-PET/CT (Fig. 1d, e and f). He continued on therapy, but after cycle six, treatment was complicated by pneumonia and autoimmune hepatitis. He improved on intravenous steroids at an outside hospital and was discharged on prednisone 1 mg/kg per day. He completely recovered with a slow steroid taper, and no further treatment with nivolumab was given. He continued on surveillance alone for 8 months, and his disease remained well controlled with no recurrence on physical exam and at least an excellent partial response in his distant metastasis with no new sites of disease.",
"gender": "Male"
}
] |
PMC5109712
|
[
{
"age": 18,
"case_id": "PMC2828432_01",
"case_text": "An 18-year-old Caucasian, Italian girl, with a history of occasional use of inhaled drugs, was admitted to the Tor Vergata University Hospital emergency room because of fever, nausea, malaise, and difficult walking. The patient had been healthy until three days before admission, when she developed fever. She had no history of intravenous drug use, recent dental procedures, heart murmurs or cardiac abnormalities. Six months earlier, she had had her nasal septum pierced, and subsequently she frequently removed her jewellery to hide it from her parents, putting it back in place again later.\nOn admission, physical examination revealed hypotension, dehydration and a clinical presentation suspicious for sepsis, with multiple Janeway lesions on the volar surface of her feet and hands, furunculosis on the legs and Osler lesions on the periungual area of two fingers. Neurological examination revealed a mild cognitive deficit, left extremity weakness and incapacity to coordinate the left side of her body. At the level of the nasal septum, an erythematous, ulcerative bleeding lesion was present in the mucosa previously perforated by a nasal piercing.\nBlood cultures obtained on admission were strongly positive for a blood-borne staphylococcus aureus (S. aureus) infection. Whole body computed tomography (CT) (Figure 1a) revealed two contrast-enhancing lesions within the left cerebellar and occipital cerebral regions, suggestive of septic emboli. Multiple similar lesions were observed in the liver, spleen and kidneys (Figure 1b). Fundus oculi revealed septic emboli (Roth lesions). Serial trans-thoracic echocardiography showed a pedunculated 15 x 13 mm vegetation sitting on the anterior mitral leaflet at the level of the postero-medial commissure, which was considered embolizing, according to the brain magnetic resonance imaging (MRI) findings. A mild mitral valve incompetence was also detected (Figure 2).\nBroad-spectrum antibiotic therapy with gentamycin, vancomycin and linezolid was initiated. When the antibiotic assay demonstrated a methicillin-sensitive S. aureus strain (MSSA), vancomycin was replaced with oxacillin. After 6 days of treatment, the patient remained febrile, with blood cultures still positive for MSSA, prompting the addition of tigecycline to the antibiotic regimen.\nOn the eighth day following the admission, a whole body CT demonstrated reduction in spleen, kidney and liver size and number of lesions. However, MRI of the brain revealed abscessualization of the cerebellar lesions (Figure 3).\nOn day 11 of treatment, the patient's condition improved and fever had disappeared. In order to remove the vegetation dangerously fluctuating in the left atrial cavity and correct the mitral valve incompetence, although the duration of antibiotic therapy was deemed not yet complete, surgical intervention was performed on April 1, 2008 by means of median sternotomy, cardiopulmonary bypass and antegrade tepid blood cardioplegia. The vegetation was removed and a posteromedial commissuroplasty was performed.\nThe immediate postoperative course was uneventful, and echocardiographic controls revealed a well functioning mitral valve. However two weeks after surgery heart failure developed and the patient presented with increasing dyspnoea, tachycardia and a new systolic murmur. Transthoracic echocardiography revealed massive mitral insufficiency with concomitant pulmonary hypertension. For these reasons, a new surgical procedure was required and performed on April 23, 2008. The anterior leaflet of the mitral valve, partially destroyed by the infection, was repaired with an autologous pericardial patch and an A3-P3 edge-to-edge valvuloplasty technique was employed to complete the mitral valve repair. A prosthetic ring was then sutured to the posterior segment of the mitral annulus to stabilize the repair.\nPostoperatively, linezolid, tigecycline and oxacillin were administered for 40 days. Subsequently ceftriaxone and rifampicin were administered until the cerebellar lesions were no longer evident on MRI.\nThe patient was uneventfully discharged on the fortieth postoperative day. A long term antibiotic treatment was prescribed in order to completely eradicate the cerebellar abscesses. Serial echocardiographic examinations were performed. At one year follow-up the patient appeared to have fully recovered and the mitral valve was functioning showing only trivial regurgitation.",
"gender": "Female"
}
] |
PMC2828432
|
[
{
"age": 50,
"case_id": "PMC5484424_01",
"case_text": "A 50-year-old female with body mass index (BMI) of 36 kg/m2 and untreated hypertension presented to an outside facility with left arm numbness and weakness and new-onset seizure. She was treated with levetiracetam. Computed tomography (CT) of the head along with CT angiography (CTA) was obtained which showed a right basal ganglia hemorrhage measuring about 3 cc (Figure 1). Her blood pressure was initially 157/100 mmHg and controlled with nicardipine infusion. Subsequent blood pressure was 132/70 mmHg. Her international normalized ratio (INR) was 1.0. She was not taking anticoagulants or antithrombotics. While in the emergency department, her neurological examination rapidly worsened. She was intubated for airway protection and was transferred to the neurosciences intensive care unit (NSICU).\nOn arrival to the NSICU, she was on a nicardipine infusion for blood pressure control. Her blood pressure was well controlled initially in the 130/90 s range but acutely fell to 80/50 s. The infusion was immediately stopped. Patient was bolused with normal saline and started on norepinephrine infusion. She subsequently became unresponsive to central or peripheral noxious stimulation. She had absent brainstem reflexes except for over breathing the respirator. She was hyperventilated and given 100 g of mannitol. Train-of-four was then performed and showed four twitches. Repeat CT of the head showed hematoma expansion to 47 cc with intraventricular extension (Figures 2 and 3). There was now effacement of the basilar cisterns as well as uncal, central, and tonsillar herniations (Figures 2 and 3).\nOver the course of the next day, she stopped breathing over the ventilator. Confounding variables on the neurological examination were excluded (Table 1). Brain death testing ensued. She was found to have brainstem areflexia. Prior to apnea testing, her core temperature was 36.1 C, systolic blood pressure was 141 mmHg, and PaCO2 was 39.6 mmHg. After pre-oxygenation, her PaO2 was 83 mmHg. With continued pre-oxygenation, the PaO2 increased to 279 mmHg (Table 2). She was subsequently disconnected from the ventilator with 5-6 liters per minute of oxygen delivered via red rubber catheter to the carina. During testing, there were no cardiopulmonary complications. Her systolic blood pressure remained 140 mmHg without any vasopressors. Her oxygen saturation remained 96.2%-99.3%. There were no cardiac arrhythmias or respiratory movements. However, the duration of the apnea testing was 110 min before PaCO2 reached the required level of >60 mmHg and serial blood gas analysis was obtained during this entire 110 min (Table 2).\nAt the end of the apnea testing, she was reconnected to the ventilator. It was then noticed that she had tidal volumes of 30-35 cc with a \"respiratory rate of 44\" which corresponded to her heart rate on telemetry (Figure 3). Given the unusual duration of apnea testing, ancillary testing was subsequently completed. Four-vessel cerebral angiography confirmed cerebral circulatory arrest (Figure 4). Autopsy was declined.\nThis case report was approved by the institutional review board.",
"gender": "Female"
}
] |
PMC5484424
|
[
{
"age": 67,
"case_id": "PMC6348503_01",
"case_text": "A 67-year-old female visited our hospital after having oliguria for 1 week without other symptoms. She had no history of tobacco use or other toxic exposures. She had hypertension and well-controlled diabetes. No fever or lymphadenopathy was found on physical examination. Routine hematological and biochemical tests revealed anemia (hemoglobin 10.1 g/dL), a high level of serum lactate dehydrogenase (307 U/L), and renal dysfunction (blood urea nitrogen 71.1 mg/dL and creatinine 9.8 mg/dL). Ultrasonography and computed tomography (CT) demonstrated an irregular thickening of the posterior wall of the bladder and bilateral hydronephrosis (Figure 1(a) and (b)). Growth of a non-papillary tumor in the posterior wall of the bladder was noted on cystoscopy. After percutaneous nephrostomy placement, transurethral biopsy of the bladder tumor was performed for histopathological diagnosis. The hematoxylin- and eosin-stained biopsy specimen presented diffuse heterotypic lymphocytes with irregularly shaped nuclei. The tumor cells were positive for the B-cell markers CD20 and LCA on immunohistochemistry (Figure 2). Additional immunohistochemical stains showed that the tumor cells were positive for CD10 and BCL6, but negative for MUM1. Based on these results, the patient was diagnosed with DLBCL of the bladder and classified as germinal center B-cell (GCB) subtype according to Hans algolism. For further investigation, 18F-fluorodeoxyglucose-positron emission tomography (FDG-PET/CT) was performed, revealing abnormal accumulation in the right iliac internal lymph nodes (Figure 1(c)). No leukemia or lymphoma was found on bone marrow biopsy. These findings indicated that the patient had stage IV (Ann Arbor classification) advanced bladder lymphoma.\nAfter the patient returned to the normal renal function, the patient underwent six 5-day cycles of R-CHOP (rituximab 350 mg/m2, cyclophosphamide-750 mg/m2, doxorubicin 50 mg/m2, vincristine 1.4 mg/m2, and prednisone 70 mg/day) every 3 weeks, followed by two cycles of rituximab alone. The lesions in the bladder, right internal lymph nodes, and bilateral hydronephrosis had completely regressed without nephrostomy stents at the end of treatment. Subsequent follow-up evaluation, including cystoscopy and CT of the abdomen and pelvis, was performed at 3-month intervals for 3 years. Recurrence was not noted on any of these follow-up examinations.",
"gender": "Female"
}
] |
PMC6348503
|
[
{
"age": 5,
"case_id": "PMC3447230_01",
"case_text": "When observing the twins' audiograms at 3.5 years old, just after CI, (Figure 3), the pure tone thresholds for most frequencies were very similar. Thus, it would be reasonable to assume their auditory and oral performance scores would also be similar. However the speech perception tests performed after 5 years of CI use (Figure 4), show that the twin girl (ICC88, III : 7) had an overall good performance throughout the tests while the twin boy (ICC89, III : 6) got poorer results, had difficulties regarding some of the age appropriate tests that are part of the standard evaluation, and was not even able to respond to some of the tests.",
"gender": "Female"
},
{
"age": 6,
"case_id": "PMC3447230_02",
"case_text": "Could the differences in auditory and oral outcomes on post-CI rehabilitation be related to the different DFNB1 genotypes? Further analysis of the family history showed that other factors could be playing an important role and contributing for the differences observed. The twins had not lived together in the same hearing environment as previously assumed. On the contrary, each of them came from a different social background. The twin girl has lived since she was 6 months-old with their hearing aunt, and uncle (II : 1 and II : 2) and has been educated in a regular school with special education and speech therapy while the twin boy lived until 7 years-old with the hearing impaired parents, who only used sign language as mode of communication, thus in a poor auditory stimulating environment, only having contact with other deaf children, and with some household problems. In 2009, through legal decision, he moved in with his sister, aunt and uncle (II : 1 and II : 2) and integrated regular school with special education and speech therapy. The audiological tests from the last three years revealed the twin boy's favourable evolution since this social alteration (Figure 5). The positive effect of the auditory and oral stimulation observed in the twin since he moved to his aunt highlights the importance of the auditory stimulating environment in the success of the post-CI rehabilitation.",
"gender": "Female"
}
] |
PMC3447230
|
[
{
"age": 24,
"case_id": "PMC5491809_01",
"case_text": "A 24-year-old woman with UC diagnosed 2 years previously was transferred to our hospital due to a 1-week history of a high-grade fever, bloody diarrhea, frequent bowel movements, and severe pain on the left side of the abdomen. Her UC was not well controlled with an oral 5-ASA therapy, so she was started on IFX in July 2014. She had already received the induction doses as well as 8 maintenance doses at 5 mg/kg, and she had maintained clinical remission for about 1.5 years. The final administration was 8 weeks prior to the start of the above-mentioned symptoms. She had neither history of travel nor any recent exposure with sick individuals, and her medical history was unremarkable except for UC. On a physical examination, the patient was febrile (39.5 C) with mild tachycardia, and an abdominal examination revealed moderate tenderness with hyperactive bowel sounds and mild rebound tenderness in the left side of the abdomen.\nHer laboratory examination revealed a decreased albumin of 3.4 (g/dL), elevated C-reactive protein of 8.53 (mg/dL), elevated erythrocyte sedimentation rate of 47.1 (mm), elevated white blood cell count of 124 (102/muL), with 81.0% neutrophils (normal range: 42-77%), hemoglobin within normal limits at 13.0 (g/dL), blood platelet count within normal limits at 29.9 (104/muL), negativity for hepatitis B virus antigen and antibody, negativity for hepatitis C virus antibody, negativity for chlamydia trachomatis antibody, negativity for syphilis, beta-D-glucan within normal limits at <6.0 (pg/mL), negativity for tuberculosis bacterium specific interferon gamma, and negativity for cytomegalovirus antigen. Polymerase chain reaction analyses were negative for both cytomegalovirus and tuberculosis bacterium genes in the colon lesions. No significant pathogens, including bacteria, fungi, viruses, and parasites, were isolated from her blood or were found in the contents of her colon. She tested negative for HIV and human T-lymphotropic virus type (HTLV)-I viruses.\nColonoscopy on admission revealed widespread shallow ulcers in the rectum and coarse mucosa with mucous, pus, and blood in the sigmoid colon (Fig. 1A and B). The mucosal vascular pattern disappeared, and the erythematous mucosa was friable and bled easily. Although there were no active UC findings from the cecum (terminal ileum) to the splenic flexure (Fig. 1C), we found long luminal edematous swelling and multifocal discharge of pus throughout the descending colon (Fig. 1D and E). The mucosa of the descending colon appeared to be nearly intact. Computed tomography immediately after colonoscopy showed a diffusely thickened wall with a narrowed lumen and intramural air-filled abscess cavities and multifocal low-density areas of abscesses (Fig. 2), particularly within the wall of the descending colon. There were no diverticula of the colon, which was confirmed by the prior findings of colonoscopy and computed tomography. Antimicrobial therapy with doripenem hydrate 0.5 g intravenously every 8 h was started, as well as intravenous hyperalimentation. 2 weeks after starting treatment, she became afebrile and pain-free, and her C-reactive protein level was normalized. Oral intake was restarted with an elemental diet, and she was later discharged home after confirmation of the improvement of her condition via colonoscopy (Fig. 3A and B) and computed tomography (Fig. 3C). She is still being followed up at our out-patient department, and both oral and anal administration of 5-ASA have maintained clinical remission of her UC. IFX has not been reintroduced.",
"gender": "Female"
}
] |
PMC5491809
|
[
{
"age": 59,
"case_id": "PMC8329603_01",
"case_text": "Our patient is a man aged 59 years, and is currently employed in an office, who suffers from an asymmetric overgrowth of the lower limbs. This pathology is benign and localized. The abnormal growth process of the left leg began at the age of 18 months and led to the amputation of the distal phalanx of the second finger, which was repeated for recurrence at the age of 4 years. At 35 years the patient underwent subtotal amputation of the first finger and the removal of calcification of the back of the left foot. At the age of 40, he underwent surgical revision of the first finger and amputation of the distal third and fourth finger phalanges.\nOver the years, cerebriform connective tissue nevi (CCTNs) has developed on the left upper limb and has undergone surgical treatment of the suspected malignant nevi.",
"gender": "Male"
},
{
"age": null,
"case_id": "PMC8329603_02",
"case_text": "The patient's speech is fluent and his understanding complete. He presents with good personal and social fulfillment (there are no malformations that can disturb the aesthetic appearance of the face). General conditions of the patient are good, from the diagnostic tests performed (medical visit, E.K.G., ultrasonography, spirometry) there are no alterations of the cardio-circulatory system, pulmonary or sensory apparatus. Laboratory tests are normal.",
"gender": "Male"
},
{
"age": null,
"case_id": "PMC8329603_03",
"case_text": "Currently the patient presents with malformations of the lower left limbs (hip, knee and ankle), evident on the articular and periarticular level, where there are diffuse exostoses. At the hip level, the exostotic formations do not result in reductions of the joint range of motion (ROM). More serious is the situation proceeding distally, where the knee malformations reduce the ROM in a range between 27 and 90 degrees in flexion-extension. At the level of the medial tibial segment a bone exostosis is found on the deep planars, ~4 cm of diameter ( Figure 1, Figure 2).\nIn 1989 the tibial area was the site of surgical removal of an intra and extra capsular fibrolipomatous bulk, about 5 cm in diameter, excision of an intra-articular mobile body, medial transposition of the patellar tendon with insertion of metal plaque and transposition of the tendon insertion of the vast medial. The ankle condition appeared even more severe, with full ankylosis in plantar flexion of 32 degrees. Both the ankle and the foot appeared to be twice the size of the contralateral limb for bone hyperplasia and connective tissue ( Figure 3, Figure 4).",
"gender": "Unknown"
},
{
"age": null,
"case_id": "PMC8329603_04",
"case_text": "Movement of the patient. The patient has a gait abnormality (limp, asymmetrical, slower than normal), which currently does not require aids on level ground. Uphill movement causes bending of the torso with increased effort, therefore where the risk of falling increases (e.g. while descending the stairs) support with a stick is required.",
"gender": "Unknown"
},
{
"age": null,
"case_id": "PMC8329603_05",
"case_text": "The patient, due to the high risk of falling while using the stairs, has to be highly concentrated and a handrail is required. The deficit is increased by the sharp decrease in proprioceptive and exteroceptive sensitivity of the left foot plantar, which is housed in custom-made orthopedic footwear.\nThe impairment of walking leads to functional overload of the lower right limb with episodes of low back pain and homolateral coxalgia.",
"gender": "Unknown"
},
{
"age": null,
"case_id": "PMC8329603_06",
"case_text": "Our patient reported that based on the clinical characteristics, a diagnosis of proteus syndrome was issued at 18 months.",
"gender": "Unknown"
},
{
"age": 54,
"case_id": "PMC8329603_07",
"case_text": "However, a recent genetic study performed in the patient at the age of 54 years highlighted the absence of the characteristic mutation present in proteus syndrome, suggesting a different diagnosis. The detection of the PIK3CA gene mutation (c.3140A> G), together with the clinical aspects of the patient, suggests a diagnosis of fibro-adipose hyperplasia syndrome (FHS), characterized by a congenital, progressive and localized overgrowth of fibrous and adipose tissue and bone. The FHS is part of the broader category of syndromes termed PIK3CA-related overgrowth spectrum (PROS), which includes LOVES, FHS, macrodactyly and megalocephaly syndrome. To date, the only treatment expected to slow down uncontrolled tissue growth is surgical resection. The aim of genetic research is to use 'target therapies', such as molecular inhibitors of the PI3K/AKT /mTOR pathway, currently used in oncology, which may slow down if not reverse the characteristic hyper-growth of these syndromes. Objective assessment of neuromuscular function can help the occupational medicine specialist to better evaluate global impairment and the presence of symptoms .\nWe performed no therapeutic intervention since no health issue was present at the clinical evaluation. However, since the patient's job had recently changed from administrative tasks to an activity characterized by more frequent contact with the public (more standing up and moving around for the worker), we ergonomically evaluated and adjusted the patient's workplace.",
"gender": "Unknown"
},
{
"age": null,
"case_id": "PMC8329603_08",
"case_text": "The patient's work environment consists of an office on the second floor where the patient carries out activities on a PC connected to the administration of the library where he works. His work chair is comfortable, allows height adjustment and an inclination of the backrest; the desk is spacious, ergonomically organized and allows comfortable housing of the legs of the subject. To allow the comfortable support of the foot, a stool was provided to the patient.",
"gender": "Male"
},
{
"age": null,
"case_id": "PMC8329603_09",
"case_text": "Movements at the workplace are very limited and of short duration; however, given the limitations of the patient's movement, the use of the stairs must be limited and the use of a dedicated elevator is required. Therefore, to allow travel to and from the workplace, the patient was reserved a flat parking space, and an elevator located at the parking level to his workstation was provided, as well as to the entire library area and related offices.",
"gender": "Male"
},
{
"age": null,
"case_id": "PMC8329603_10",
"case_text": "The main occupational concern that could create critical issues with patients with this type of syndrome with restricted movement would be in the event of an emergency exodus, e.g. fire. Therefore, various measures and simulations were put in place to assess and reduce the risk for this patient in an event such as this.",
"gender": "Unknown"
},
{
"age": null,
"case_id": "PMC8329603_11",
"case_text": "For our patient, the maximum distance between a safe place to go to in event of an evacuation (as determined by the fire department, which was on a level) and the patient's workstation or other places of work the patient occasionally frequented, such as reading room and book store, was <30 meters. A simulation was carried out at the patient's workplace by the patient to assess the time taken for arrival at the safe place from the usual workstation (30 seconds) and from a more distant location (45 seconds), which seem to be acceptable times for the worker to keep in safe.",
"gender": "Unknown"
},
{
"age": null,
"case_id": "PMC8329603_12",
"case_text": "The presence of an automatic fire detection and extinguishing system may constitute a risk element for our patient as it maked the floors more slippery, increasing the risk of falls. Therefore, a training plan aimed at emergency evacuation and a specific exercise was planned for the entire staff. In addition, two work colleagues were trained specifically for the assistance of the patient, and a tested evacuation and transport chair (model PRO-SKID by SPENCER) was purchased to descend the external fire escape stairs.",
"gender": "Unknown"
},
{
"age": null,
"case_id": "PMC8329603_13",
"case_text": "We assessed the outcomes of the change in workstation at 6 months. The patient reported increased work comfort and a regular use of the elevator located at the parking level to reach his workstation. He reported no falls during the last 6 months and no accidents have occurred.",
"gender": "Male"
}
] |
PMC8329603
|
[
{
"age": 50,
"case_id": "PMC6450236_01",
"case_text": "A 50-year-old man referred to cardiological examination for exertional dyspnea lasting several months. He was always been fine, so he had never made any medical evaluation. He never smoked, and he never got any drugs. He was asymptomatic at rest. The vital signs were heart rate - 75 beats/min (bpm), blood pressure - 135/80 mmHg, and oxygen saturation - 94% on room air. He had mild reduced breath sounds on both lungs, cardiac auscultation showed a soft systolic murmur, and mild peripheral edema was observed. Electrocardiogram (ECG) demonstrated sinus rhythm, heart rate - 75 bpm, right bundle branch, and left anterior fascicular block. Transthoracic echocardiography showed normal left ventricular chamber size and wall thicknesses (end-diastolic diameter 48 mm, interventricular septum 10 mm, and posterior wall 9 mm) [Figure 1] and normal systolic function (Simpson rule ejection fraction 60%); right ventricle was dilated (basal diameter 46 mm) [Video 1] with preserved longitudinal systolic function (TAPSE 24 mm, S': 12 cm/s). There was paradoxical movement of interventricular septum due to volume overload in right ventricle. Estimated systolic pulmonary pressure resulted increased (55 mmHg). There was no pericardial effusion, and inferior vena cava was mild dilated (21 mm) with reduced respiratory excursions. Color-Doppler showed a significant left-to-right shunt both at interatrial and interventricular septum [Figure 2], and moderate mitral valve regurgitation was present probably due to a cleft in the anterior leaflet [Figure 3]. We suspected an atrioventricular (AV) canal diagnosis, but unfortunately, the acoustic window did not allow the whole understanding of cardiac defect anatomy. Thus, a transesophageal echocardiography (TEE) was performed in every echocardiographic sections, providing detailed anatomical information. Unluckily, poor tolerance of patient on the probe did not allow a good quality of transgastric view. It demonstrated: A 25 mm ostium primum defect with hemodynamically significant left-to-right shunting, a \"cleft\" in the anterior leaflet leading to moderate regurgitation of AV valve, a restrictive small ventricular septal defect [Figures 4,5 and Videos 2,3]. Diagnosis of transitional AV defect was done. Three-dimensional (3D) echocardiography might be useful to provide better visualization and understanding of the anatomy of the cardiopathy than 2D imaging. Unluckily, our center has no 3D echocardiography yet. However, 2D TEE allowed the correct diagnosis. Thus, oral diuretic therapy was recommended. The patient was inserted on the waiting list for an elective hospitalization to perform right cardiac catheterization, coronary angiography, and reparative cardiac surgery.",
"gender": "Male"
}
] |
PMC6450236
|
[
{
"age": 70,
"case_id": "PMC4276263_01",
"case_text": "A 70 year old man presented to our hospital with a painful left-sided inguinal swelling of one day duration. The patient gave history of asymptomatic left inguinal swelling from past 20 years and absence of the right testis since birth.",
"gender": "Male"
},
{
"age": 4,
"case_id": "PMC4276263_02",
"case_text": "The patient was phenotypically male with normal secondary sexual characters. He had been married for fifty years and was having 4 children, the youngest one being 38 year old female. General physical examination revealed a man of sub-average built with well developed secondary sexual characters. His urethra and penis were fully developed with a poorly developed right hemi-scrotum and no palpable right testis in the scrotum or inguinal canal. The left hemiscrotum was well developed and left testis was palpable in scrotum.\nThere was a non-reducible, tender swelling measuring approximately 10 x 8 cm in the left inguinal region with absent cough impulse. Baseline investigations were normal. Patient was prepared for surgery after obtaining a written consent. Exploration of the inguinal canal revealed an indirect inguinal hernia containing a globular structure resembling uterus, fallopian tubes with an atrophic right testis embedded in the broad ligament and attached to pelvis with a thick fibrous band [Figs. 1 and 2]. Total excision of the uterus with fallopian tubes and atrophic right testis was performed and the operation was completed with left inguinal hernioplasty [Figs. 3 and 4]. Our patient had an uneventful post-operative period. Grossly, the specimens removed were identified as a uterus with patent endometrial and endocervical linings and two fallopian tubes. The right testis measuring 2 x 1 x 1 cm, was atrophic and embedded in the right broad ligament. The specimen was sent for histopathological examination which revealed uterine muscular tissue with its cavity lined by endometrial tissue and congested fallopian tubes. No ovarian tissue was seen. Sections from right testes showed atrophic semineferous tubules, Sertoli cells and Leydig cells. No evidence of malignancy was seen in tissue samples from testicle. Post-operative karyotype analyses of the patient revealed 46, XY.",
"gender": "Male"
}
] |
PMC4276263
|
[
{
"age": 25,
"case_id": "PMC9282816_01",
"case_text": "A 25-year-old female presented with the left dull mid-back pain for 3 months' duration. The pain was moderate and radiated to the left breast/precordium. The physical examination just revealed focal tenderness over the inferior angle of the left scapula/7th costovertebral junction, without swelling or erythema.\nThe patient had a raised erythrocyte sedimentation rate of 40 and C-reactive protein of 6. Serological testing for HIV, hepatitis B, and hepatitis C was all negative.\nThe anteroposterior X-rays of the thoracic spine showed that the T7 vertebral body was scalloped on the left side, and there erosion of the T7 left pedicle and adjoining rib [Figure 1]. The MR showed; a left-sided T7 enhancing periarticular erosive lesion, marrow edema in the posteromedial portion of the left 7th rib, the left posterolateral portion of the T7 vertebral body, and lateral left T7 pedicle. There was also thickening/ enhancement of the synovium of the left 7th costotransverse joint with enhancing soft tissue elevating the overlying pleura, and abutting the descending aorta [Figure 2]. A CT-guided biopsy was diagnostic for TB; it demonstrated caseous necrosis with epithelioid and Langerhans giant cells [Figure 3]. In addition, GeneXpert detected Mycobacterium tuberculosis that showed sensitivity to both isoniazid and rifampicin.\nATT for the first 4 months included rifampicin, isoniazid, pyrazinamide, and ethambutol (HRZE) (intensive phase). For the next 8 months, the patient received rifampicin and isoniazid (HR) (continuation phase). At follow-up (12 months), the patient showed clinical and radiological signs of healing [Figure 4].",
"gender": "Female"
}
] |
PMC9282816
|
[
{
"age": 40,
"case_id": "PMC10084577_01",
"case_text": "The comparative results of clinicopathological characteristics of patients under 40 years old and over 40 years old are exhibited in Table 3. The tumor distribution pattern, interstitial inflammatory infiltration (Degree and Distribution pattern), concomitant or non concomitant breast tumor and lymph node metastasis between patients younger and older than 40 years old were various (P < 0.05). The 2 groups are basically the same in the lymphovascular embolization and the prognosis (P > 0.05).",
"gender": "Unknown"
}
] |
PMC10084577
|
[
{
"age": 14,
"case_id": "PMC6332946_01",
"case_text": "A 14-year-old boy, who was initially examined for continuous coughing, was referred to our hospital owing to an anterior mediastinal mass identified on chest X-ray (Figure 1). Systematic examination revealed a 20 x 10 cm sized mass at the right anterior mediastinum that involved the right pulmonary vein and elevated levels of alpha fetoprotein (AFP), a tumor marker, at 3825 ng/ml. Needle aspiration was performed, but only necrotic tissue could be collected. We did not analyze the karyotype since the symptoms suggesting the Klinefelter syndrome were not observed. Therefore, a clinical diagnosis of malignant teratoma was made, and three courses of cisplatin-based chemotherapy were administered because AFP levels continuously increased. After chemotherapy, AFP levels decreased, although the size of the tumor did not change, as evident in a computed tomography (CT) scan. Next, tumorectomy and total right lung extraction were performed. The pathological diagnosis of the extracted tumor was malignant teratoma with areas of yolk sac tumor (Figure 2). No cancer cells were found at the edges of the area where the tumor was removed. Two courses of cisplatin-based postoperative chemotherapy were administered until AFP levels were normal.\nAfter 3 months of follow-up, the patient experienced pain in his right hip joint while AFP was still normal. The 99mTc-methylene diphosphonate bone scan showed increased tracer uptake at the left forehead and right hip joint (Figure 3). Head and pelvic MRI also revealed signs of metastasis at the left forehead and right hip joint. Abdominal CT showed a metastatic region in the liver. Bone biopsy was performed at the left forehead. The pathological diagnosis was metastatic malignant melanoma originating from an immature teratoma of mediastinum (Figure 4). Large heteromorphic cells with melanin were found in the original mediastinal malignant teratoma by retrospective re-examination. This suggested that a section of the malignant melanoma in the original malignant teratoma, which was composed of various components, metastasized. Because of the very fast disease progression, after consultation with the family, aggressive treatment was discontinued, and palliative therapy was provided. He died 15 months after diagnosis of the original malignant teratoma.",
"gender": "Male"
}
] |
PMC6332946
|
[
{
"age": 27,
"case_id": "PMC4866062_01",
"case_text": "A 27-year-old woman presented to a local physician with an intermittent epistaxis and a facial pain around her nose. Her medical history was unremarkable. Computed tomography (CT) scan demonstrated a heterogeneously enhanced mass lesion centered in the left nasal cavity [Figure 1a].\nShe was referred to our institute for surgical treatment of a nasal cavity tumor. On admission, she suffered from anosmia and diplopia. CT scan, performed 3 months after the first scan, demonstrated that the enlarged mass lesion breaking through the medial wall of the left orbit and pushed the eye laterally [Figure 1b]. We considered this might be the reason for her diplopia. For tissue diagnosis, the patient underwent endoscopic exploration from the nasal cavity. Because of heavy nasal bleeding, we combined midfacial degloving approach. Although we could control the bleeding, we could not resect the complete tumor.\nHematoxylin and eosin-stained sections showed neoplastic cells forming small intracellular lumina that included red cells. The endothelium covering blood vessels was hyperplastic. No mitosis and necrosis were observed [Figure 2a]. The Ki-67 labeling index was 28%. Immunohistochemical analysis was positive for factor VIII-related antigen, vimentin, CD34, and CD31 [Figure 2b]. EHE was diagnosed on the basis of the aforementioned findings.\nMagnetic resonance images indicated that the tumor had invaded the anterior skull base dura matter [Figure 3]. Digital subtraction angiography indicated bilateral ethmoidal arteries as major feeding arteries to the tumor. Because of the aggressive nature of EHE, the cancer board of Tohoku University Hospital agreed radical surgery of the tumor utilizing anterior skull base dissection and endonasal endoscopic exploration.\nBefore the operation, spinal drainage was introduced to reduce brain retraction. Neurosurgeons conducted bilateral frontal craniotomy and excised the anterior skull base dura where the tumor had invaded. The left anterior and posterior ethmoidal arteries were coagulated and cut. Following skull base dissections, otolaryngologists achieved complete removal of the tumor through the canine fossa using an endoscope. We confirmed that the tumor was adhesive but had not invaded into the orbit. Intraorbital component was left intact as we had planned preoperatively. Following resection of the tumor and the dura matter, skull base reconstruction was performed using the pericranial flap, fascia lata, and titanium mesh plate.\nThe patient recovered uneventfully from the radical resection of the tumor. Her diplopia improved. She has been free from local recurrence or distant metastasis for 26 months after the surgery.",
"gender": "Female"
}
] |
PMC4866062
|
[
{
"age": 68,
"case_id": "PMC8243102_01",
"case_text": "A 68-year-old right-hand dominant woman was referred for evaluation of a right brachial plexus mass. Prior to presentation in our hand surgery clinic, the patient had a history of bilateral shoulder pain following a motor vehicle collision status post left rotator cuff repair; the patient elected to defer right shoulder replacement until she was more symptomatic. Approximately 5 years after her initial injury, she experienced worsening pain in her right shoulder. A large effusion was drained and an arthroplasty was scheduled. However, she continued to have progressive swelling, weakness, and numbness of her right upper extremity. A duplex ultrasound ruled out deep venous thrombosis. Due to concern for lymphedema, she was fitted with a compression sleeve and began physical therapy. She was referred to a hand surgeon who preliminarily diagnosed her with bilateral carpal tunnel syndrome and right-sided cubital tunnel syndrome, but advised a second opinion given her lymphedema and unusual clinical presentation. Her sensory and motor function continued to worsen over the course of 6 months, involving both the ulnar and median nerve distributions of the right hand; electrodiagnostic testing was performed with equivocal results, as the report noted that the diagnostic quality of the exam was limited by right upper extremity lymphedema. She was also noted to have neck pain that was relieved by cervical traction so additional imaging was obtained. Magnetic resonance imaging (MRI) revealed a soft tissue mass encasing the right brachial plexus divisions and cords without axillary lymphadenopathy, as well as severe chronic rotator cuff arthropathy with a large shoulder effusion (Figure 1).\nOn evaluation, the patient demonstrated profound deficits of the right upper extremity. Motor function was notable for shoulder abduction limited to 10 and inability to abduct, adduct, or cross her fingers. Sensation was absent in the fourth and fifth digits and diminished with paresthesia in the index and middle fingers. Her thumb sensorimotor exam was normal.\nThe patient was referred to interventional radiology for an image-guided fine-needle aspiration biopsy, but the specimen obtained was non-diagnostic. Due to concern for malignancy, an open excisional biopsy of the mass was performed. Intraoperatively, the lateral and posterior cords of the brachial plexus appeared very swollen and a heavy, fibrotic perineurium was noted. A tissue sample of the epineurium was obtained, as well as two lymph nodes, one infraclavicular and one supraclavicular. External neurolysis of the lateral and posterior cords was performed.\nHistological examination of the brachial plexus mass and adjacent tissue revealed adipose tissue infiltrated by low-grade carcinoma. Immunostaining was consistent with primary breast cancer that was estrogen receptor (ER) and progesterone receptor (PR) positive, and Her2/neu negative (Figure 2). Both lymph nodes that were resected were negative for carcinoma. Full oncologic workup included a staging positron emission tomography-computed tomography (PET/CT) scan, which was negative for an FDG-avid primary mass but showed multiple foci of bony sclerosis in the thoracolumbar spine and sacrum without FDG avidity, as well as focal FDG uptake in the left L5 transverse process, indeterminate for metastasis. No breast abnormalities were noted on PET/CT scan, and no breast MRI was performed as part of her workup. Carcinoembryonic antigen (CEA) and cancer antigen 15-3 (CA15-3) levels were not elevated.\nOf note, the patient had been up to date with annual screening mammograms, all of which had been negative including the most recent one performed several months after the onset of her right upper extremity symptoms, 5 months prior to her excisional biopsy. Interestingly, she had a 15-year history of oral contraceptive use, followed by a 20-year history of hormone replacement therapy after total abdominal hysterectomy and bilateral salpingo-oophorectomy. Her family history was notable for Hodgkin's lymphoma, prostate, lung, and colon cancer. Comprehensive genetic testing with the Invitae Common Hereditary Cancers Panel was negative for all 46 tested genes, including BRCA1, BRCA2, CHEK2, PTEN, and PALB2.\nIn the setting of metastatic disease to the brachial plexus without imaging findings of a primary tumor or nodal involvement, treatment focused on medical and radiation therapy rather than surgical resection. The patient was treated first with palliative radiation (37.5 Gy in 2.5 Gy daily fractions) to her right brachial plexus, followed by letrozole and palbociclib. These treatments were well tolerated, and she showed improvement in right upper extremity strength, sensation, range of motion, and pain.\nAfter completion of radiation treatment and 2 months of letrozole and palbociclib, she was reevaluated in our hand surgery clinic. On motor exam, she demonstrated significant improvement of right shoulder abduction to 80 , as well as normal strength and range of motion of the elbow. She had normal wrist extension but moderate weakness with wrist flexion. Most notably, she lacked active flexion of her right thumb and digits at both the metacarpophalangeal and interphalangeal joints; however, finger extension was preserved. On sensory exam, she endorsed subjective paresthesias of the thumb and index finger with two-point discrimination of 7 mm and numbness in the remainder of the digits with two-point discrimination >20 mm. Due to these significant functional limitations, she underwent a brachialis to anterior interosseous nerve transfer to restore active thumb, index, and middle finger flexion.\nOverall, the patient has been doing well and has been stable on letrozole and palbociclib. From a functional standpoint approximately 1 year after surgery, she notes improved range of motion, sensation, and active movement of her right hand. She was started on zoledronic acid due to concern for bony metastases, but her most recent restaging imaging was negative for breast mass, axillary lymphadenopathy, enlargement of the brachial plexus mass, or osseous or other distant metastasis.",
"gender": "Female"
}
] |
PMC8243102
|
[
{
"age": 56,
"case_id": "PMC3716026_01",
"case_text": "This patient is a 56-year-old African American female who still works as an elementary school principal with a history of IGG kappa multiple myeloma diagnosed 15 years prior to admission, refractory to chemotherapy treatment. Previously, in 1992, she was diagnosed with monoclonal gammopathy of undetermined significance (MGUS) but was then diagnosed with multiple myeloma in 1997 when she was found to have a lytic lesion and compression fracture of the T7 vertebra. Subsequent treatment included radiation, dexamethasone, thalidomide, bortezimide, lenalidomide and bendamustine between 1997 and 2012. She was then treated with carfilzomib. Over the years, she developed chronic kidney disease due to Bence Jones proteinuria, anorexia, chronic anemia (requiring multiple blood transfusions), multiple electrolyte abnormalities and herpes zoster for which she remained on prophylaxis. She had widespread lytic bone lesions and pathological fractures, which remarkably had not been accompanied by significant pain.\nPatients with myeloma commonly present with malaise and bone pain, and not uncommonly with a fracture that may result from a neoplastic mass or may result from osteoporosis induced by the plasma cell effect on bone marrow. Myeloma plasma cell infiltration results in bone resorption and osteolysis. The balance of bone osteoblastic and osteoclastic activity is upset. Osteoclast-activating factors secreted by the plasma cells begin a vicious cycle of osteolysis and tumor growth resulting from released cytokines. Imaging studies, old and new, are employed to diagnose the cause of bone pain, to help establish staging in the Durie-Salmon System, and to follow treatment. Radiographic skeletal surveys, computed tomography (CT), nuclear medicine, and MRI are all useful in an evaluation. Newer modalities, such as positron emission tomography (PET), have been used to study relapse.\nOur patient suffers from one of four patterns of bone involvement, myelomatosis or diffuse skeletal involvement. Other forms are solitary plasmacytoma, diffuse skeletal osteopenia, and sclerosing myeloma. Radiographic skeletal survey, though insensitive for early disease, is positive in 75% of patients by the time a diagnosis is established. The axial skeleton, the spine, skull, pelvis, and ribs are more often affected than the limbs (Figs. 1-3). Lesions are almost always lytic. More than two clearly defined lytic lesions place patients like ours in Durie-Salmon Stage III disease. Therefore, the skeletal survey is recommended in all cases of newly diagnosed myeloma.\n Computed tomography (CT) has a role in clarifying ambiguous lesions, in assessing fracture risk by demonstrating the amount of residual cortical bone, and in guiding biopsy when needed. Magnetic resonance imaging (MRI) is used to establish the burden of disease, especially in the spine, that is prone to myeloma, and therefore at risk of fracture and spinal cord compression. In Stage III disease, patients with normal spine marrow pattern respond better to therapy and achieve remission more often. MRI is best and CT is second best in assessing the presence, the level, and the severity of myeloma-related spinal cord compression. The two techniques may be complementary in clarifying ambiguous lesions. Both MRI and CT detect extra osseous extension of disease.\nStandard radionuclide bone scan with technetium 99-m relies on osteoblastic activity for tracer uptake, and myeloma is nearly exclusively osteoclastic. As many as half of myeloma lesions visible on radiographs are normal on the bone scan.\nPositron emission tomography (PET) has a role in assessing the extent of extramedullary disease, and follow-up of these patients, but not in routine follow-up of treated myeloma in bone.\nSpine fractures may be treated with vertebroplasty/kyphoplasty, and helpful in treating pain and spinal deformity. MRI is important to evaluate for potential pre-procedure spinal cord compression by a mass.\nMultiple myeloma is becoming a more chronic disease, with life extended by successful chemotherapy. Knowing when, where, and why to use the full range of imaging described above will allow for accurate staging of the disease and to modify therapy as necessary, and to decrease the morbidity associated with fractures and spinal cord compression.",
"gender": "Female"
}
] |
PMC3716026
|
[
{
"age": 63,
"case_id": "PMC6421597_01",
"case_text": "We present the case of a 63-year-old male of African origin (Kenya) with an occupational work exposure to boilers, and with a known medical history of uncontrolled hypertension, diabetes mellitus type 2, brain aneurysm that developed after a motorcycle accident, and a large left testicular hydrocele (8 x 3 cm) developing for over 1 year. The patient was seen at another hospital with complaints of testicular enlargement but did not receive medical treatment at that time. More recently, the patient underwent a spectral and color Doppler ultrasound revealing a large complex left hydrocele with a 1.7 cm regular, heterogeneous solid structure within the upper anterior aspect possibly representing the left testis. Surgery was then performed a month later, 1300 cc of straw-colored fluid was noted, and the hydrocele sac and left testicular nubbin were removed via scrotal orchiectomy. After pathological review and consultation, the specimen was confirmed to be malignant mesothelioma, epithelioid type. The tumor demonstrates predominantly an exophytic papillary growth although in areas it is solid and invasive into the underlying tunica vaginalis. The neoplastic cells are epithelioid with cuboidal to oval nuclei and eosinophilic cytoplasm (Figures 1-3). By immunohistochemistry, the tumor cells are positive for WT-1, calretinin, and focally for D2-40, while BAP-1 is retained.\nFollow-up for positron emission tomography/computed tomography scan did not reveal any hypermetabolic foci except for a small 9 mm hypodense nodule in the right lobe of thyroid gland.\nRadical excision is planned and chemotherapy planned after more extensive surgery.",
"gender": "Male"
}
] |
PMC6421597
|
[
{
"age": 0,
"case_id": "PMC2718207_01",
"case_text": "A 3-month-old boy presented with a palpable abdominal mass. Radiographs of the abdomen disclosed that in the left upper quadrant, a large lesion causing inferomedial displacement of the bowel loops was present. US revealed a large, mixed-echoic, solid and cystic mass in this same area (Fig. 1A), while unenhanced abdominal CT scans depicted a well-defined heterogeneous mass with intratumoral nodular calcifications (Fig. 1B) and a suspicious focal area of fat density. Enhanced abdominal CT scans showed a large, exogastric, solid and cystic mass arising from the greater curvature of the stomach, with continuity between this curvature and the intraluminal extension of the mass. These scans also indicated that the solid portion of the mass was well enhanced (Fig. 1C). The differential diagnosis was germ cell tumor such as teratoma or stromal tumor of the stomach, neuroblastoma, or a mass originating in the tail of the pancreas. A pre-operative diagnosis of teratoma was based on the presence of intratumoral calcification and mixed cystic and solid components of the mass.\nThe tumor was totally excised, involving partial gastrectomy, and the defect in the stomach was repaired. The gross specimen of the round exogastric mass thus obtained measured 14 x 9 x 6.5 cm and originated from the posteroinferior wall of the stomach along its greater curvature (Fig. 1D). The protruding intraluminal polypoid mass, measuring 7 x 5 x 3 cm, formed a continuation of the exogastric mass and was entirely covered by serous membrane. It contained multiple cystic areas filled with serous and mucinous material, keratin, and hemorrhagic foci. Histologically, the tumor contained not only mature components such as chondroid tissue, squamous epithelium, and keratin, but also multifocal aggregates of immature neural tissues of neuroblasts. The pathologic diagnosis was immature teratoma of the stomach. Three months later, follow-up CT revealed neither evidence of tumor recurrence nor distant metastasis.",
"gender": "Male"
}
] |
PMC2718207
|
[
{
"age": 63,
"case_id": "PMC8164024_01",
"case_text": "A 63 years old man presented to our emergency department with a right sided headache and vertigo of one week duration along with right sided decreased hearing. There was no ear discharge. Review of systems were unremarkable. The past medical history was significant for a long-standing type 2 diabetes mellitus with secondary complications of retinopathy, dyslipidemia, and systemic hypertension. Drug history included insulin in addition to linagliptin, perindopril, and rosuvastatin. The patient has no history of smoking or alcohol consumption. Family history included diabetes mellitus and hypertension.\nVital signs were within normal limits. Physical examination was unremarkable apart from partial left sixth cranial nerve palsy with no associated nystagmus or other cerebellar signs. Local examination of the ears, nose, and throat showed no significant tenderness, color change, or pre or postauricular swelling in affected ear. Tympanic membranes were intact. Neck and head examination revealed no associated swellings or palpable lymph nodes, and the temporomandibular joint were normal.\nInitial tests showed WBC of 8.8 x 103/L, C-reactive protein of 15.3 mg/L, HbA1C of 7.2 %, normal kidney function tests, and a negative HIV serology. Radiological assessment with CT head (Fig. 1) demonstrated thickening of the external auditory canal and middle ear with an ill-defined soft tissue mass pacifying the right mastoid air cells cavity. Subsequent MRI (Fig. 2 and Fig. 3) showed an extensive diffuse multi-compartmental enhancement with bone involvement suggestive of osteomyelitis.\nA provisional diagnosis of MOE with SBO was made and the patient was commenced presumptively on antipseudomonal therapy in the form of parenteral then high dose oral ciprofloxacin therapy at 750 mg BID.\nAfter 10 weeks of discharge, the patient represented with progression of symptoms complaining of worsening headache, dizziness, and double vision. Local examination showed swelling of the right ear canal and intact tympanic membrane with no accompanying discharge. In the view of disease progression while on treatment, PET -CT (Fig. 4) was arranged to rule out potential underlying neoplasms; but was furthermore supportive of an underlying infectious process. Subsequently, multiple microbiological and histological samples from the right ear canal, bone biopsies of the temporomandibular joint and soft tissues from the base of the skull demonstrated no evidence of malignancy or granulomas while extended culture yielded yeast eventually identified as Candida orthopsilosis matched from multiple sites. It was sensitive to amphotericin B (MIC 0.5 mug/mL) and fluconazole (MIC 0.5 mug/mL).\nThe patient was treated with two weeks induction course of liposomal amphotericin B (5 mg/Kg) followed by oral fluconazole (400 mg daily for a planned 6 months duration). Despite favorable initial response with the disappearance of the 6th nerve palsy, the patient had subsequent relapse with recurrent emergency visits and hospital admissions for worsening dizziness and vomiting. MRI was repeated and revealed persistent disease with increase in surrounding pachymeningeal enhancement. Accordingly, reinduction course of Amphotericin was considered followed by extended higher dose of fluconazole therapy of 800 mg daily scheduled for a prolonged duration of 12 months. During which, follow up MRI was repeated twice in 8 weeks interval, but showed no significant interval changes. One year following initial presentation, the patient is frail but stable.",
"gender": "Male"
}
] |
PMC8164024
|
[
{
"age": 45,
"case_id": "PMC10421585_01",
"case_text": "The patient was a previously healthy 45-year-old male who had never undergone surgery before and sought hospital care for intense epigastric abdominal pains irradiating to the back and weakness. The possibility of acute appendicitis was ventured during the consultation, because of involuntary guarding at the iliac fossa during physical examination and leukocytosis. It was decided to supplement work up with abdominal computed tomography (CT). The CT report described arteriopathy of the celiac trunk, with caliber reduced by approximately 73%, and arteriopathy of the superior mesenteric artery, with 40% narrowing; enlarged retroperitoneal lymph nodes; and thickened gallbladder. The patient was scheduled for exploratory laparoscopy in view of the refractory nature of his pain. No abnormalities that could explain the patient's pain were identified during this procedure and all possible causes of acute abdomen were ruled out. The patient was discharged from hospital promptly, with improved symptoms.\nAfter the tomographic findings from the previous admission, the patient was scheduled for abdominal angiotomography the following month, which found stenosis of the celiac trunk (50%) (Figure 1). After around 6 months, another angiotomography study was performed, which is when thickening of the median arcuate ligament of the diaphragm was observed for the first time, with compression and 80% stenosis of the proximal third of the celiac trunk.\nThe patient underwent laparoscopic surgery to relieve compression of the celiac trunk. During the operation, the common hepatic artery was dissected in the direction of the celiac trunk, where the fibers of the arcuate ligament were released and the adjacent celiac ganglion was removed. While releasing the celiac trunk, it was necessary to partially section the splenic and common hepatic arteries to gain access to the fibers of the arcuate ligament, since these vessels were intrinsically linked to the filaments, which caused moderate bleeding, that was controlled with primary arteriorrhaphy (Figure 2). The patient was given intraoperative blood transfusion with packed red blood cells and was taken to intensive care for postoperative recovery, progressing to hospital discharge 3 days later.\nThe patient remained asymptomatic during the postoperative period and underwent a control angiotomography (Figure 3) 2 months after surgery, which showed improved celiac trunk stenosis at 60-70%, in addition to critical stenosis of almost 100% of the proximal segment of the splenic artery, with distal flow fed via collateral circulation originating from the gastroduodenal artery. Currently, 1 year after the surgical intervention, the patient remains asymptomatic and has chosen not to undergo further imaging exams, in view of his stable condition.",
"gender": "Male"
}
] |
PMC10421585
|
[
{
"age": 41,
"case_id": "PMC4897088_01",
"case_text": "A 41-year-old woman presented to the emergency department complaining of a three-day history of left-sided chest pain. The pain was described as pressure-like, pleuritic, made worse with ambulation and when supine. It was constant, increasing in intensity and not associated with any alleviating factors, hence her request for evaluation. She had denied any history of trauma, fevers, cough, night sweats nor hemoptisis. She denied any dyspepsia, and noted no relief of her symptoms with over-the-counter antacids.\nSix weeks prior to the onset of her chest pain she had complained of right hip pain, radiating down the leg. This was diagnosed as radicular pain secondary to sciatica for which she had been under bed rest and analgesics. This slowly improved, and she had reinitiated full ambulation about two weeks preceding her presentation.\nHer past medical history was remarkable for depression and occasional migraine headaches, both of which had been controlled. She was gravida 2, status-post two cesarean sections, the last of which was performed five years prior. She was started on oral contraception five months earlier, Yaz , in addition to Topiramate and Escitalopram. She denied any life-long toxic habits. Her family history was remarkable for lymphoma in her mother. She had no known family history of coagulopathy or other hematological conditions.\nUpon presentation to the hospital she was evaluated for her chest pain by way of cardiac enzymes and complete blood count, which were both normal. An initial chest radiograph was also noted to be normal, as was an EKG. Nonetheless, a CT scan of the chest using a protocol to evaluate for a pulmonary embolism was performed which was remarkable for a large filling defect involving the left main pulmonary artery and extending into all sub-branches, most pronounced in the left lower lobe (Figure 1A, Figure 1B, Figure 1C). There appeared to be a mass extending outside the vessel wall. In addition, there was evidence of focal infiltration into the adjacent lung parenchyma with pre and post contrast Hounsfield units of 15 and 60, respectively. This was suggestive of a pulmonary angiosarcoma.\nIn view of the pulmonary artery occlusion, she was admitted and closely monitored. She had an unremarkable hospital course, which included a negative work up for coagulapathy. With improvement of her chest pain, she was sent home on anticoagulation with warfarin. An FDG-PET scan was later performed, which did not reveal any FDG-avid lesions. A subsequent bronchial-alveolar lavage and pulmonary function testing were also unrevealing. Interestingly, she underwent open thoracotomy for excision of the left thoracic mass, and at the time of surgery no mass was found. There was only evidence of a chronic pulmonary embolism of the left pulmonary artery which was evacuated. Following her surgery, she developed pleural effusions managed with diuretics. Due to progressive dyspnea, even at rest, she was reevaluated in the emergency department. A repeat CT scan of the chest was then positive for bilateral pleural effusions, greater on the left, with adjacent atelectasis, but no evidence of pulmonary embolism. A thoracentesis was performed with cytology negative for malignancy and findings consistent with a transudate.",
"gender": "Female"
}
] |
PMC4897088
|
[
{
"age": 2,
"case_id": "PMC2719788_01",
"case_text": "An eighty-two-year old female presented to the urology outpatient clinic with a short history of fecaluria, pneumaturia, and passage of urine per rectum. She had an indwelling urethral catheter inserted, because of the total urinary incontinence, for a period of over eight years. This catheter was last changed twelve weeks prior to her visit to the urology clinic by her district nurse. The patient had positive MSUs in the year prior to her admission demonstrating mixed growth of enteric organisms, but no prior febrile urinary tract infections were reported.\nShe received radical radiotherapy alone for a muscle-invasive bladder tumor (stage T2b) in 1991 and underwent abdominal exploration for drainage of an appendicular abscess when she was in her early twenties. The patient had a background history of cerebrovascular disease, hypertension and ischaemic heart disease. She was felt to be an unsuitable candidate for radical surgery for her invasive bladder cancer due to these comorbidities. The decision to manage her incontinence with an indwelling urethral catheter was made having discussed available treatment options with the patient. A long-term indwelling catheter was felt to be the most appropriate option for her given her other extensive comorbidities. She did not have urodynamic testing prior to urethral catheterization. The exchanges of the catheter were being carried out every three months in the community and there had been no reported difficulty with her previous catheter changes. The patient was not undergoing routine cystoscopic surveillance of her bladder. \nOn physical examination she was generally unwell with low-grade fever and pallor. Her abdomen was soft, mildly tender with no palpable masses and no signs of peritonitis. Her urethral catheter drained feculent material mixed with urine.\nLaboratory investigations showed a low hemoglobin of 7.8 gm/dL, white cell count of 17 109/L with a C reactive protein of 233. Magnetic resonance images (MRIs) of the abdomen and pelvis were performed urgently and were reviewed by a senior consultant radiologist and his impression was that those images confirmed the presence of the inflated balloon of the indwelling urethral catheter in the lumen of a bowel segment (Figures 1 and 2). \nIn enterovesical fistulas treatment is undertaken depending on the aetiology, clinical status and general condition of the patient. Enterovesical fistulae seldom close spontaneously. Given the nature of the pathology in this case and the presence of a foreign body in the fistulous tract (the urethral catheter), it was felt that the only way forward was to perform an urgent laparotomy and removal of the foreign body with excision of the fistulous tract. The situation was explained to the patient and she was consented for laparotomy, with all the risks and potential complications of surgery fully explained including both urinary and faecal diversion. On laparotomy there were severe adhesions, and the catheter balloon was found to have penetrated through the bladder wall and was lying in a terminal ileal segment adherent to bladder wall. Excision of this segment and urinary diversion by fashioning an ileal loop conduit was performed. A Hartmann's procedure was carried out due to the high clinical suspicion of presence of another separate colovesical fistula. The patient was transferred postoperatively to the intensive care unit and was moved afterward to the urology ward for 10 days. She had a smooth postoperative course with no recorded complications and is currently on regular urology outpatient clinic followup. Histology from the resected segment of terminal ileum demonstrated chronic inflammation only with no evidence of tumor recurrence.",
"gender": "Female"
}
] |
PMC2719788
|
[
{
"age": 43,
"case_id": "PMC2838360_01",
"case_text": "A 43-year-old black woman presented with a 3-month history of symmetric, diffuse and yellowish hyperkeratosis of palms and soles. Plantar surfaces were the most affected, with painful fissures (Figures 1 and 2). A progressive worsening was seen in the last 2 months, despite treatment with topical antifungals, oral terbinafine and topical corticosteroids. Dry skin with generalized pruritus was also observed. Neck examination was unremarkable. The remainder physical examination (including nails, mucosae and hair) was normal. Asthenia, mood changes with emotional lability, constipation and menstrual irregularities were present for the last 4 months. Her past medical history was unremarkable. She denied the use of any medication. Family history was negative for dermatological diseases.\nA complete laboratory and imaging evaluation was performed in order to investigate possible infectious, systemic, or malignant conditions. Routine laboratory tests were normal, except for elevated total cholesterol (295 mg/dL) and LDL cholesterol (205 mg/dL). Thyroid function tests revealed an elevated thyroid stimulating hormone (17,5 U/mL; normal range 0,35-4,94) and diminished free triiodothyronine (1,45 pg/mL; normal range 1,71-3,71) and free thyroxine (0,46 ng/dL; normal range 0,7-1,48). Circulating antibodies to thyroid peroxidase were elevated (534 U/mL) and thyroglobulin antibody was negative. Other immunological tests (rheumatoid factor, antinuclear antibodies, antidouble stranded DNA antibodies, antiextractable nuclear antigen antibodies and complement) were also normal or negative. Infections by hepatitis B and C viruses, human immunodeficiency virus 1 and 2, Treponema pallidum and intestinal parasites were excluded. Fungal cultures from skin and nails were negative. Tumor markers (CEA, CA 19-9, CA-125, CA 15-3, beta2-microglobulin and AFP) were normal. Abdominal and pelvic ultrasound, mammography and chest radiograph were unremarkable. A thyroid ultrasound showed a homogeneous ultrasonographic thyroid image and excluded nodules and goitre. The patient refused to give consent for a skin biopsy.\nInitially, empirical treatment with emollients, topical keratolytics (urea, salicylic acid) and isotretinoin 20 mg/day was started. Despite those treatments, worsening of palmoplantar keratoderma was observed. Skin xerosis improved after treatment with topical emollients. Later, with the diagnosis of primary hypothyroidism secondary to autoimmune thyroiditis, the patient was referred to Internal Medicine Department and therapy with levothyroxine (0, 1 mg/day) was started. A slow and progressive improvement was seen, with partial and complete clinical remission of cutaneous findings at 3 and 9 months of hormonal replacement therapy, respectively (Figures 3 and 4). Systemic symptoms had also an excellent and sustained response to the treatment. After 24 months of follow-up, she continues levothyroxine with normal thyroid function tests and no recurrences of the dermatosis.",
"gender": "Female"
}
] |
PMC2838360
|
[
{
"age": 13,
"case_id": "PMC8710692_01",
"case_text": "A 13-years-7-months-old Chinese girl was adopted shortly after birth, who showed normal growth and development. At 3 years and 5 months old, the patient presented with febrile convulsion. The brain magnetic resonance imaging (MRI) and electroencephalogram (EEG) were performed, the results of which were normal.\nAt 8 years and 9 months old, the patient developed a febrile respiratory infection. She was treated with amoxicillin granules, but the treatment did not work. Two days later, the fever persisted at 39.3 C and the patient showed an acute neurological deterioration including drowsiness, agitation and ataxia. A series of auxiliary tests were carried out after she was admitted to our department. Laboratory parameters, including blood glucose, electrolytes, ammonia, blood cell count, toxic and drug screen, liver and kidney function tests, were normal. A semi-quantitative urine ketones body test was positive (2+). Normal cell count and glucose were found in cerebrospinal fluid (CSF) analysis, with no elevated protein concentration and oligoclonal band. Extensive viral and bacterial testing ruled out the infectious meningoencephalitis. Brain MRI showed bilateral, symmetric signal abnormalities in the white matter (WM) of the centrum semiovale and the periventricular regions, signal abnormalities in the splenium of the corpus callosum, and the head of the caudate nucleus (Figure 1). The WM showed hyperintense in the T2-weighted axial (Figures 1A-C) and FLAIR axial (Figures 1D-F) views, and restricted diffusion in the diffusion-weighted imaging (Figures 1G-J). Brain magnetic resonance spectroscopy (MRS) was performed, the result of which showed normal lactate and NAA peaks. No other urine test abnormalities were observed, except for an increased urinary excretion of alpha-ketoglutaric acid. The acyclovir and intravenous cefotaxime sodium were administered to treat the suspected intracranial infection. After a few days, the patient returned to an almost complete normal clinical status. Brain MRI was performed 45 days later, and the WM abnormalities were almost completely subsided (Figures 2A-I).\nTwo years later, after experiencing a fever (38.8 C) from tonsillitis for 2 days, the patient presented with an acute neurological dysfunction including drowsiness, agitation, dizziness and fatigue. She started intravenous cefotaxime sodium and acyclovir. CT scans of the brain were normal. The brain MRI of WM in the T2-weighted axial and FLAIR axial views were similar to that observed in the first acute episode (Figure 3). Results of CSF analysis, including protein, glucose, cell count, and oligoclonal band were normal results. While an increase in urinary excretion of alpha-ketoglutaric acid was observed in the urine again. She recovered within 2 days.\nOur patient was seen in the outpatient clinic 1 month, 1 year, and 3 years after the second acute event with satisfactory clinical follow-up. The clinical status and examination results were normal.",
"gender": "Female"
}
] |
PMC8710692
|
[
{
"age": 73,
"case_id": "PMC9990775_01",
"case_text": "A 73-year-old woman presented with subarachnoid hemorrhage (SAH). She was found unconscious at home and transferred to the hospital. She had a history of hypertension and hyperlipidemia. Her consciousness level was Glasgow Coma Scale E3V4M5. The SAH grade was Hunt and Hess Grade 3 and WFNS Grade 4. The thickest hematoma of the SAH was noted in the interhemispheric fissure on computed tomography (CT) [Figure 1a]. CT angiography and digital subtraction angiography (DSA) showed an azygos ACA with hypoplasia of the A1 segment of the right ACA [Figure 1b]. Three-dimensional rotational angiography indicated a small and conical aneurysm measuring 0.7 mm in height, with a 1.2 mm neck located on the bifurcation of the distal azygos trunk. This small aneurysm was arising from the distal end of the azygos trunk to the left pericallosal artery [Figure 1c]. This aneurysm was considered to be ruptured because of the absence of obvious aneurysms on other angiography and the distribution of the SAH in the CT. DSA after waiting for 4 days under sedation showed obvious enlargement of the aneurysm [Figure 1d]. This small aneurysm was diagnosed as a ruptured BLA located on the distal bifurcation of an azygos trunk based on its size, shape, and growth. Direct clipping and endovascular treatment using simple coiling and balloon-assisted coiling seemed to have a high risk for intraoperative rupture due to the BLA. Trapping with an anastomosis was also difficult because the aneurysm was located on the azygos trunk. Therefore, it was decided to perform stent-assisted coiling (SAC) on the same day as the follow-up DSA. Immediately after the follow-up DSA, dual antiplatelet agents were administered in loading doses (aspirin 200 mg and clopidogrel 300 mg) 4 h before the start of the endovascular treatment. First, a 6-Fr FUBUKI guiding sheath (Asahi Intec, Aichi, Japan) was inserted into the right femoral artery and advanced to the left cervical ICA. A Headway 17 microcatheter (Microvention, Aliso Viejo, CA, USA) was navigated over a CHIKAI 0.35-mm (0.014-inch) microwire (Asahi Intec, Aichi, Japan) into the left pericallosal artery with a 3.4-Fr Tactics (Technocrat, Aichi, Japan) placed on the A1 segment of the left ACA as an intermediate catheter [Figure 2a]. An Excelsior SL-10 (Stryker Neurovascular, Kalamazoo, MI, USA) shaped by steam on a 45-degree curve was placed in the proximal part of the aneurysm using a Traxcess 0.30-mm (0.012-inch) microwire (Microvention) because of the difficulty of placing the microcatheter inside the aneurysm. After a 2.5-mm * 17-mm low-profile visualized intraluminal support (LVIS) Jr (Microvention) was deployed to just the distal neck of the aneurysm, a Galaxy G3 mini 1-mm * 20-mm (Cerenovus, Irvine CA, USA) was poured into the aneurysm. Two loops of the coil were placed inside the aneurysm by the microcatheter placed in the proximal of the aneurysm, which moved gradually with the coil protruding from the tip. The half-deployed stent was placed across the neck of the aneurysm to the end [Figure 2b]. Final postembolization DSA showed that the contrast effect of the aneurysm disappeared [Figure 2c]. Because a thrombus was found at the origin of the right pericallosal artery [Figure 2d], the patient was administered 80 mg of ozagrel sodium, and no blood vessels occluded. No new postoperative neurological deficits were found, and magnetic resonance imaging-diffusion-weighted imaging showed multiple spotty high intensities in the ACA region bilaterally [Figure 3], and magnetic resonance angiography showed no vessel occlusion. Follow-up DSA 14 days after onset showed residual aneurysm with contrast inside the dome. However, the findings showed stagnation of contrast in the venous phase and did not show contrast along the aneurysm wall, so follow-up was continued [Figure 4a]. Follow-up DSA 30 and 90 days after onset showed that the aneurysm thrombosed gradually and reached complete occlusion 90 days later [Figures 4b and c]. The patient had a good outcome, with a 90-day modified Rankin Scale (mRS) score of 2 and mild disturbance of memory as a sequela.",
"gender": "Female"
}
] |
PMC9990775
|
[
{
"age": 35,
"case_id": "PMC4000300_01",
"case_text": "A 35-year-old Japanese male presented to the Emergency Department of Okinawa Chubu Hospital with right hemiparesis. He had awakened from sleep with severe, sharp chest pain that was not accompanied by dyspnea. The chest pain subsided within 1 min without treatment, but medical evaluation was sought due to obvious dysarthria and weakness of the right upper and lower limbs. The patient was previously healthy, with no prior hospital admissions, surgeries, medications, or allergies, but bilateral pedal edema had developed 3 months prior to presentation. He had no dyspnea or ambulatory dysfunction and did not seek medical intervention. He worked as a house painter and lived with his wife and children. He had 15 pack-years of exposure to tobacco, and consumed 400 ml of Okinawan spirits nightly. There was no family history of cardiovascular disease, thromboembolism, or chronic kidney disease.\nPhysical examination revealed that the patient was alert with no distress. He was not obese (BMI 21.4 on admission, when he was edematous), and he was afebrile with a blood pressure of 140/90 mm Hg, a regular pulse of 85 beats/min, and a respiration rate of 25 breaths/min. Oxygen saturation in the room air was 100%. An examination of the head revealed a marked, right-sided facial droop, but was otherwise normal. Carotid upstrokes were symmetric without bruits. The heartbeat was regular without gallops or murmurs, and the lungs were clear; the abdominal examination was also normal. Bilateral pitting edema was present to the knees. There were no rashes or petechiae. Neurological examination revealed intense dysarthria, which made it difficult for him to communicate with others, and right-sided central facial nerve palsy. Both the right arm and leg were at Brunnstrom stage 1, with complete flaccidity and no voluntary movement. Pain and light touch sensation were absent on the right side of his body.\nTable 1 contains initial laboratory data. Blood counts revealed leukocytosis and hemoconcentration. Serum albumin was markedly low at 1.8 g/dl. Serum cholesterol, triglyceride, and low-density lipoprotein cholesterol were elevated. The urine protein to creatinine ratio was 7.5 g/g Cr, indicative of high-grade proteinuria. The examination of the urine sediment revealed oval fat bodies, and testing for anti-nuclear antibodies, anti-neutrophil cytoplasmic antibodies, and anti-phospholipid antibodies were all negative. Hepatitis B and C serologies were negative.\nDiffusion-weighted magnetic resonance imaging showed high-intensity areas consistent with acute infarction in the left basal ganglia, left corona radiata, and left cerebral cortex (fig. 1). Contrast-enhanced computed tomography of the neck revealed collateral blood flow around a large embolus in the left carotid artery (fig. 2). Ultrasound of the left carotid revealed the embolus without any plaques or ulcers at the vessel wall (fig. 3). There were no aortic dissections, pulmonary emboli, renal vein thromboses, or deep vein thromboses on the computed tomography. A transthoracic echocardiogram showed normal contractility without dilated chambers, valvular disease, vegetations, intraluminal thrombi, or any findings suggesting pulmonary embolism, such as pulmonary hypertension or right ventricular stress.\nA presumptive diagnosis of ischemic cerebrovascular accident caused by a left carotid thromboembolism was attributed to a hypercoagulable state due to NS. Because of the lack of any findings of atherosclerosis or plaques at the left carotid, we believed that embolism was more likely than thrombosis. The origin of the embolus was not detected despite a thorough cardiovascular evaluation. Immediate anticoagulation with unfractionated heparin was employed, and the renal biopsy was deferred. Intravenous methylprednisolone was administered empirically at 1,000 mg/day for 3 days, followed by oral prednisone at 60 mg/day. Cyclosporine was added 30 days later in response to persistent nephrotic-range proteinuria (5.5 g/day on the 28th day). The patient was transferred to a rehabilitation hospital 47 days after first admission.\nHowever, the blood examination performed after transfer revealed abnormal liver function on the 74th day from the first admission, the results of which are detailed in table 1. Serological studies and abdominal ultrasound excluded viral hepatitis or biliary obstruction. He was immediately readmitted under suspicion of drug-induced hepatotoxicity. Medications on admission included prednisolone (50 mg/day), warfarin (2.75 mg/day), cyclosporine (70 mg b.i.d.), sulfamethoxazole/trimethoprim (400/80 mg daily), eicosapentaenoic acid (900 mg b.i.d.), atorvastatin (10 mg/day), lansoprazole (30 mg/day), alfacalcidol (0.25 mug/day), andronate (35 mg/week), and calcium lactate (1 g b.i.d.). All medications except for prednisone were subsequently withheld, and warfarin was replaced by intravenous heparin. The liver test results normalized, but they deteriorated upon rechallenge with warfarin.\nAt this time, heparin therapy was briefly interrupted to permit a renal biopsy to evaluate refractory NS, with hypoalbuminemia (2.1 g/dl) and proteinuria (5.7 g/day). The biopsy showed MN at stage III of the Ehrenreich and Churg classification. Continued anticoagulation was deemed necessary due to severe persistent hypoalbuminemia and the severe cerebrovascular accident. Warfarin appeared to be clinically intolerable due to idiopathic hepatotoxicity despite a negative lymphocyte stimulation test. Intravenous heparin therapy was incompatible with outpatient rehabilitation.\nWe discussed the indication of dabigatran, the only available novel oral anticoagulant in Japan at that time, with the patient and also with cardiologists, a neurologist, and the vice-principal of our hospital, all of whom were responsible for the prescription of dabigatran, and we decided to initiate treatment. We also explained and discussed the risks and benefits of dabigatran with the patient and obtained his written and informed consent in advance. Oral dabigatran was administered at a dose of 110 mg b.i.d., and MN was treated with oral prednisone and cyclophosphamide according to Jindal's regimen. Proteinuria decreased from a ratio of 5.1 to 1.6 g/g Cr, and serum albumin rose from 2.3 to 3.7 g/dl over 7 months. He was transferred to the rehabilitation hospital 137 days after stroke onset. At the outpatient clinic, his renal function remained stable, and he did not experience any episodes of edema, bleeding, or thromboembolism. We monitored the activated partial thromboplastin time (aPTT) to predict the risk of bleeding due to excessive anticoagulation. The aPTT values taken 4 h following administration of dabigatran in the morning were stable at around 40 s (standard aPTT was 30 s). A carotid echogram performed 2 years after the initiation of dabigatran revealed a reduced embolus, although it did still occlude the internal carotid.",
"gender": "Male"
}
] |
PMC4000300
|
[
{
"age": 49,
"case_id": "PMC7256205_01",
"case_text": "A 49-years-old woman presented with alteration of her right foot shape, cracking sensation, and progressing difficulty while walking in the last six months. She never consulted any physicians about her right foot before. There was no history of trauma and infection, but there was a history of uncontrolled type 2 DM in the last two years. She did not consume her oral antidiabetic drugs routinely; her diabetic medication was switched to insulin therapy in the last six months to better control her disease.\nPhysical examination revealed rocker-bottom deformity, but there was no edema, ulceration, or local rise in temperature (Fig. 1). There was a foot tenderness with visual analog scale (VAS) score of 2-3, a decrease of distal sensory perception, a capillary refill time of less than 2 seconds, and limited ankle range of motion (ROM). CT-scan and plain radiographs revealed the bone deformity of the forefoot with Meary's angle of 22 , Bohler angle of 88 , and Gissane angle of 125 (Fig. 2).\nAfter establishing the diagnosis, the patient underwent forefoot arthrodesis by using screws and K-wire fixation (Fig. 3). The initial AOFAS score was 45 out of 100, then two months after surgery the score increased to 61. Furthermore, the radiological union of talus was obtained three months after surgery (Fig. 4); the AOFAS score further improved to 69. The AOFAS score continued to increase in the fourth and sixth months follow-up after surgery with a score of 78 and 86, respectively. The foot pain was absent sixth months after the surgery while physical and radiological examination showed improvement of the foot arch and the Meary's angle improved to 8 (Fig. 5). The patient was compliant to post-surgical advices. Thus, there was no complication, and there was an improvement of her overal quality of life.",
"gender": "Female"
}
] |
PMC7256205
|
[
{
"age": 0,
"case_id": "PMC8428556_01",
"case_text": "In the previous reports with other mydriatics, abdominal adverse effects have been reported. A 2-month-old girl had episodes of apnea, vomiting and distension after a screening for ROP with cyclopentolate 0.5% and phenylephrine 2.5%. Bonthala et al. reported that ocular instillation of 0.2% cyclopentolate and 1.0% phenylephrine eyedrops inhibited duodenal motility and delayed gastric emptying in 11 infants; this might have been caused by a reduction in peristaltic movement of the gastrointestinal tract. ROP screening using cyclopentolate, therefore, might be associated with increased gastric residuals and cyclopentolate was detected in the blood of infants, whereas phenylephrine was not detected in the blood. In another report, the incidence of gastric residual increased after ROP screening with another type and/or dose of mydriatic. In these reports, cyclopentolate was used for ROP screening; therefore, it may cause abdominal adverse effects.\nIn the present study, neonatal infants with lower body weight at the ROP screening had higher scores of abdominal distention. However, because those infants also had higher scores of abdominal distention before ROP screening, we should be careful about attributing the abdominal adverse effects to the mydriatic (alone). Jiang et al. reported that the incidence of gastric residuals increased after ROP screening in infants with postconceptional age < 31 weeks. Gronlund et al. reported that, in neonatal lambs, the sympathetic nervous system is a major regulator of cardiovascular interactions and that the autonomic nerves are immature. The immaturity of autonomic nerves in neonatal infants might contribute to abdominal adverse effects.\nIn the current study, compared with the period before examination, there was a significant increase in the number of infants with decreased pulse rate during the period after examination. In some previous reports, pulse rate did not significantly change after ROP screening. However, Khoo et al. reported that pulse rates decelerated below the baseline values after ROP screening. Rosales et al. stated that stress and pain during ophthalmic examinations are known to precipitate apnea and bradycardia. Stress and pain during ophthalmic examination may affect pulse rate until at least 1 day after ROP screening.\nIn the current study, the volume of stool, respiration rate, blood pressure and number of episodes of apnea did not change significantly after ROP screening (p > 0.05 paired-t tests). In a previous report, a significant elevation in systolic blood pressure was observed in 8 of 10 infants. In a different study, percutaneous oxygen saturation and pulse rate changed significantly from baseline values following ROP screening with 2.5% phenylephrine and 0.5% tropicamide eyedrops. There were no significant changes in blood pressure, temperature, or respiration rate. Jiang et al. reported significant increases in blood pressure after administration of phenylephrine 0.5% and tropicamide 0.5%. Lees et al. reported that blood pressure was significantly elevated but pulse rate was unchanged after ROP screening with 2.5% phenylephrine and 0.5% tropicamide eyedrops. Isenberg et al. also reported significantly elevated blood pressures after ROP screening with 2.5% phenylephrine and 0.5% tropicamide eyedrops, but blood pressure did not change after ROP screening with the same types and doses of eyedrops in a study by Bolt et al.. Thus, there are still controversies about changes in pulse rate, respiration rate, blood pressure and periods of apnea, which may be due to differences in the kind and/or dose of mydriatics used and/or the time of ophthalmic examination.\nThe current study had some limitations in that it was a retrospective study, with a small sample size and without control cases. Because we evaluated data only up to 1 day after screening, any long-term effects are unknown. Finally, the cause of the abdominal adverse effects was unclear and not only the mydriatics, but also the ophthalmic examinations themselves, might contribute to the changes seen.\nIn conclusion, screening for ROP with 0.5% phenylephrine and 0.5% tropicamide eyedrops may have adverse effects on systemic conditions such as abdominal distention, milk consumption and pulse rate. Careful observation for abdominal conditions should be performed after ROP screening with mydriatic.",
"gender": "Female"
}
] |
PMC8428556
|
[
{
"age": null,
"case_id": "PMC9432856_01",
"case_text": "The animal in this report was a mixed-breed male dog, aged approximately 1 year and 6 months from Belford Roxo, Rio de Janeiro state. The dog was taken for veterinary assistance in a local clinic on May 4, 2021, due to a \"stiff neck,\" open mouth, and excessive salivation. The veterinarian suspected a foreign body obstruction and degenerative disk disease. However, the owner was not confident regarding the diagnosis, so she visited another clinic located in Duque de Caxias City for a second opinion. The animal presented with a stiff neck, left-sided head tilt, and salivation.\nInitially, the second veterinarian assumed that the salivation was a consequence of a previous morphine injection, which was administered in the first clinic to induce vomiting as the previous veterinarian suspected a foreign body obstruction. The animal was very calm, which made performing the physical examination easy. Gloves were used for protection while evaluating the dog, and upon examination, no neck or mouth injury was detected. Following standard practice, several questions were asked: for example, if the animal had previous contact with bats, and the owner answered affirmatively. When asked regarding vaccine protocols, the owner answered that the animal was not vaccinated against rabies. Hence, she was advised to take the animal for radiographic examination as required in the first clinic to evaluate the neck and return as soon as possible. The veterinarian searched for diagnostic information on rabies, and the radiographic report did not indicate any injuries in the vertebral column or temporomandibular joint.\nOn the following day, May 5, the owner sent a message and a video through \"WhatsApp\" informing that the animal had a staggering pace. The veterinarian requested that the animal be brought to the clinic immediately for hospitalization and explained his clinical suspicion and severity.\nUpon admission, the animal entered the clinic at a staggering pace. Venous access was made to inject medications and antibiotics as the blood test revealed signs of infection. A sample was collected for the distemper polymerase chain reaction test, which was later reported to be negative.\nThe animal then stayed under supervision, and as the hours passed, serious signs of aggressiveness and hostile behavior started to appear, complicating the medical team in handling his attendings. The dog growled and hit the canine box whenever someone attempted to approach it. Incoordination worsened during the night, and the dog struggled to stand and fell repeatedly. Then, it spent the rest of the night lying on the box. On May 6 at 10 am, the dog died after 24 h of hospitalization.\nThe veterinarian on duty was oriented to put on personal protective equipment (PPE), while handling the animal to place it inside a plastic bag and keep it refrigerated until the veterinarians from the municipal government of Duque de Caxias took the animal to the Rabies Laboratory of Diagnostics.",
"gender": "Male"
}
] |
PMC9432856
|
[
{
"age": 38,
"case_id": "PMC7336214_01",
"case_text": "A 38-year old man presented with dysarthria lasting for about one hour, two days after returning from holidays from the island of Corfu, where he had spent several days exposed to strong sunshine. The day after the presentation, the symptoms of dysarthria recurred and lasted about two hours before completely resolving. There were no other neurological symptoms such as headache, dizziness, confusion, or weakness (except from the baseline weakness due to the polyneuropathy). During his holidays, he was exposed to the sun for more hours than usual, but he did not report excessive use of alcohol or other substances.\nThe patient was examined on the second day of symptom appearance when he was found to be afebrile with no other signs of infection. His dysarthria had resolved, and the rest of his neurological examination was normal with the exception of the baseline weakness of the lower extremities due to his polyneuropathy.\nBlood tests including inflammatory parameters as well as an immunological screen were normal and so was urine analysis and cerebrospinal fluid (CSF) analysis. CSF oligoclonal bands were absent.\nMagnetic resonance imaging (MRI) of his brain was obtained (Figure 1) which showed a diffuse symmetric deep white matter involvement of the centrum semiovale posterior frontal and parietal, with T2/FLAIR hyperintensity and restricted diffusion an ADC map images (first row of images).\nThe findings extended continuously to the splenium of the corpus callosum (second row of images). No major mass effect was recognized. No hemorrhagic changes on T2/GRE images and no postcontrast enhancement on enhanced T1 images were seen (not shown here).\nDue to the transient recurrence of the symptoms on the second day of presentation, the patient was treated empirically with corticosteroids (1 gram of intravenous methylprednisone per day for 3 consecutive days). His neurological examination returned to baseline.\nRepeat MRI examination performed one month later showed significant symmetric improvement of the findings on T2, FLAIR, and DWI images (Figure 1). The FLAIR abnormalities were hardly recognized on the second MRI and had improved both in volume of involvement and intensity. Subtle increased signal could still be traced on DWI images, with no actual restricted diffusion on ADC map images (ADC map normalization).\nFurther questioning revealed two similar episodes in the past, one at the age of eleven years and one at the age of 21 years. The first episode preceded the diagnosis of CMTX, which was established at the age of sixteen, following the diagnosis of his older brother. The c.381C>G base change in the GJB1 gene resulting in the Ile127Met amino acid substitution in Cx32 was identified in this family. He had experienced recurrent episodes of weakness of the right lower extremity lasting 2-3 hours over the course of 3 days. The medical history had revealed no evidence of infection, travel, intense exercise, or presence of any other provoking factor. MRI was not available at that time, and no medical record of laboratory examinations could be obtained.\nTen years later, at the age of twenty-one, the patient experienced a more severe episode of dysarthria lasting 4-5 hours. Over the course of the next 4 days, he continued to experience transient dysarthria attacks which subsequently progressed to paresis of the right lower limb. At that time, he had once again been exposed to strong sunshine for prolonged periods of time in the days prior to the presentation due to his work at the beach. Once again, laboratory investigation was entirely normal and he was treated with corticosteroids.\nThe MRI which, at that time, reported it as a possible acute disseminated encephalomyelitis (ADEM) in retrospect showed very similar findings to the one performed at our institution. The follow-up MRI was done one month later and revealed significant improvement.",
"gender": "Male"
}
] |
PMC7336214
|
[
{
"age": 60,
"case_id": "PMC6604042_01",
"case_text": "In 2008, a 60-year-old Japanese man was first diagnosed with cT2N0M1 stage IV adenocarcinoma of the lung and multiple metastases including the brain and the 12th thoracic vertebra (Th12) (Fig. 1). Irradiation of the Th12 with a total dose of 45 Gy and gamma knife radiosurgery for the brain was performed, followed by treatment with carboplatin and paclitaxel as first-line therapy, cisplatin and S-1 as second-line therapy. The patient next received treatment with erlotinib from 2009 to 2014. After the disease progression of lung lesion was detected in computed tomography (CT) in 2014, a lung rebiopsy revealed an activating EGFR mutation (exon 19 deletion) without a secondary mutation (T790M) in exon 20. The patient decided to receive the treatment with afatinib in addition to docetaxel or pemetrexed from 2014 to 2017, even though EGFR-TKI failed to control the disease's progression.\nSince pelvic pain, caused by bone metastases in 2nd lumber vertebra (L2) and 2nd sacral vertebra (S2), was occurred in 2013, irradiation of L2 and S2 was performed with a total dose of 30 Gy, respectively (Fig. 2). In 2017, the disease progression of lung lesion was further developed in CT, and a liquid biopsy showed a secondary mutation (T790M) in exon 20 of EGFR. Treatment with osimertinib thus has been administered with partial remission.\nIn 2018, the patient, now aged 70 years, complained of right mild back pain, caused by the lesion with abnormally enhanced signals in right iliopsoas muscle in CT (Fig. 3A). Positron emission tomography (PET)-CT also confirmed the lesion with highly enhanced signals (Fig. 3B). Other lesion still showed partial remission with no change in serum tumor markers for lung cancer, whereas the lesion in right iliopsoas muscle progressed rapidly. A CT-guided biopsy and subsequent surgery of the tumor were performed.\nA pathological examination revealed proliferation of atypical spindle cells in a random growth pattern (Fig. 4A). On immunohistochemical examination, most of the tumor cells were positive for CD34 (Fig. 4B), and only limited number of the tumor cells was faintly positive for EMA or desmin. By contrast, AE1/AE3, SMA and S-100 were negative. These findings indicate that the tumor does not have noticeable histologic features, and carcinoma with sarcomatous change is unlikely. In light of the morphological and immunohistochemical findings, undifferentiated pleomorphic sarcoma was diagnosed. Importantly, no EGFR mutations was detected by RT-PCR, indicating that the detected sarcoma is unrelated to the primary lung cancer. As the locoregional recurrence occurred 7 months later after the surgery, the patient received the radiation therapy, and is now under outpatient follow-up.\nIn summary, this patient had undergone radiation therapy, and the sarcoma histologically different from the primary tumor arose from the irradiated field, both of which are consistent with the disease definition of radiation-induced sarcoma.",
"gender": "Male"
}
] |
PMC6604042
|
[
{
"age": 24,
"case_id": "PMC6949674_01",
"case_text": "In July 2015, a 24-year-old woman was referred to our Department of Internal Medicine for a high fever (39 C) lasting 3 days, fatigue, myalgias, chills, and vomiting. She had been followed since 2008 for primary ITP, initially treated with oral prednisone (1 mg/kg/day), which achieved complete remission. Because of occasional severe relapses (two between 2009 and 2012, with gynecological bleeding), she was subsequently treated with Intravenous Immunoglobulin (IVIg) with good responses. In January 2012, at age 21, she suffered a severe relapse, again justifying the use of IVIg and corticosteroids. At that time, she had detectable autoimmunity with an antinuclear antibody titer of 1 : 250 (anti-SSA specificity but without any sign suggestive of lupus) and platelet-directed anti-glycoprotein IIb/IIIa antibodies. In June 2012 (baseline), a new IVIg cycle was administered, followed by RTX (375 mg/m2 once-a-week for 4 consecutive weeks). A complete platelet response was obtained within 6 weeks and, at the last follow-up (March 2015), her blood platelet level was normal (321 x 109/L) without treatment. Before RTX infusion (June 2012), her blood total gamma-globulin level >3 months before IVIg infusion had been normal (8.9 g/L) but she was lymphopenic (total lymphocytes: 0.513 x 109/L), while her peripheral blood lymphocyte count had been normal at ITP diagnosis (1.199 x 109/L). The previously available phenotype profiles of her peripheral circulating lymphocytes are reported in Table 1. No infection occurred during the 3 years following the last RTX administration and she remained clinically well at biannual consultations in our department.\nAt admission, in July 2015, at age 24, her temperature was 39.2 C and she complained of lower abdominal pain, vomiting but without diarrhea; her physical examination was normal. Laboratory tests showed elevated C-reactive protein (CRP: 114 mg/L, normal range (NR): <5 mg/L), hepatic cytolysis (aspartate aminotransferase: 144 U/L, NR: 7-40 U/L; alanine aminotransferase: 265 U/L, NR: 5-50 U/L) and cholestasis (alkaline phosphatase: 389 IU/L, NR: 40-130 U/L; gamma-glutamyltranspeptidase: 698 U/L, NR: 5-38 U/L). The hemogram revealed agranulocytosis and thrombocytopenia (leukocytes: 4.9 x 109/L; neutrophils: 0.02 x 109/L; hemoglobin: 14.5 g/dL; platelets: 46 x 109/L). Bone-marrow aspirate showed normal density, several megakaryocytes but hypoplastic granulopoiesis in blocked maturation, without blasts. Computed-tomography (CT) scans of the thorax and abdomen were normal. Once urine and blood samples had been collected, empirical ceftazidime and gentamicin were begun, and achieved apyrexia within 48 h. After 46 h, blood cultures came back positive for Campylobacter jejuni, and the identical strain isolated from the patient's feces; amoxicillin-clavulanic acid (1 g 3 times a day for 2 weeks) was prescribed. Seven days postadmission, CRP, neutrophil and platelet levels returned to normal (3 mg/L, 6.61 x 109/L and 521 x 109/L, respectively); blood cultures were negative; and liver function was improved.\nLaboratory evaluation for immunodeficiency yielded: negative serology for human immunodeficiency viruses-1 and -2, very low serum Ig levels (Table 1) and no circulating B cells. Flow-cytometry quantification of T-cell subsets found expansion of circulating CD4+ T lymphocytes expressing surface DR, suggesting their activation; low natural killer cells and CD8+ T-lymphocyte levels. Urine immunofixation electrophoresis was negative. Ig-replacement therapy was started but not pursued by the patient.\nTen months later (May 2016, age 25) she was hospitalized for a 15-day low-grade fever, weight loss, nonproductive cough and progressive dyspnea. CRP, lactate dehydrogenase and beta2-microglobulin levels were 40 mg/L, 340 U/L (NR 5-240 U/L) and 3.53 mg/L (NR 1.2-2.5 mg/L), respectively. As shown in Table 1, hypogammaglobulinemia, CD19+ B lymphopenia and low peripheral CD8+ T-cell count persisted but without T activation, as assessed by HLADR-positivity. CT scans visualized bilateral diffuse infiltrates, ground-glass opacities and large nodules. Bronchoalveolar lavage analysis revealed Pneumocystis jiroveci cysts with positive polymerase chain reaction (PCR) (4,000 copies/mL); high-dose trimethoprim-sulfamethoxazole and corticosteroids were prescribed. Searches for other pathogens, including Mycobacterium tuberculosis, atypical mycobacteria, cytomegalovirus, Cryptococcus and Aspergillus species, were negative. At that time, her bone-marrow biopsy was normal.\nDespite appropriate antibiotics and clinical improvement, thoracic CT scans revealed worsened dense infiltrates (Figure 1(a)), pleural effusions, hepatosplenomegaly and nodular lesions of both kidneys (Figure 1(b)). A new bronchoscopy with biopsies found CD20+ large lymphomatous cell infiltration (Figure 2) in bronchi. Those large atypical lymphoid tumor cells were CD10-BCL-6- and MUM1+BCL-2+, with an 80% Ki-67-proliferation index on immunolabeling. EBV, as assessed by in situ hybridization with an EBV-encoded small RNA probe, was diffusely positive in about 80% of tumor cells (Figure 2). The FISH assay for MYC gene rearrangement (MYC FISH DNA Probe, Split Signal, (Y5410), Dako, Locus 8q24) was negative. EBV-positive DLBCL with a nongerminal center phenotype was diagnosed without bone-marrow infiltration. Circulating EBV-DNA was positive (2,430,000 IU/mL). DLBCL treatment consisted of RTX, cyclophosphamide, doxorubicin, vincristine and prednisone. Even with EB viremia becoming negative, she developed fever, cytopenias, liver damage and neurological manifestations, as a consequence of her prominent bone-marrow hemophagocytosis. Unfortunately, she died of multiorgan failure at age 25.",
"gender": "Female"
}
] |
PMC6949674
|
[
{
"age": 40,
"case_id": "PMC8639588_01",
"case_text": "A 40-year-old woman with a history of asthma presented to the emergency department with severe upper abdominal pain. The patient's blood pressure was 155/115 mmHg, heart rate was 75 beats/min, and body temperature was 36.4 C. The patient had marked tachypnoea, oxygen saturation was 94% at room air. According to the patient's report, she had regular bowel habits and denied any vomitus, nausea, diarrhea, or constipation. There was no history of previous trauma and no surgical history. Clinical examination revealed a soft abdomen with some slight tenderness and markedly lowered breath sounds over the right lung. Laboratory findings revealed elevated white blood cells (11.14G/L, reference: 3.50-9.80G/L) with negative C-reactive protein. Ultrasound of the abdomen was negative for bilious attack or appendicitis. Pleural ultrasound described pleuritic alterations suggestive of pulmonary infarction. Computed tomography (CT) imaging was added and showed a right-sided Bochdalek hernia with right-sided lung compression, pleural effusion on the right, and mediastinal shift to the left (Figures 1A,B). First, all available findings and the critical situation were discussed with the anxious patient. Imaging results were used to explain the necessary surgical procedure. The patient had sufficient time to ask all relevant questions. Finally, she felt well informed and agreed to the surgical intervention due to lacking alternatives. An emergency median laparotomy was performed under general anesthesia in supine position. A 2 cm right posterolateral diaphragmatic hernial orifice containing an incarcerated and partially necrotic loop of the ascending colon without any intraabdominal signs of infection was detected (Figure 1C). The hernia content was reduced and fecal pleural fluid drained into the abdominal cavity from the chest. Multiple intraabdominal and right-sided thoracic lavages through the hernia defect were performed and the hernial orifice was closed with a non-absorbable 2-0 continuous suture. Right-sided hemicolectomy and a side-to-side anastomosis from the ileum to the transverse colon was necessary due to intestinal ischemia and colon perforation (Figure 1D). A right-sided 24 charierre chest tube was placed and antibiotic treatment with meropenem was started. Histopathological work-up revealed ischemic colon perforation with severe hemorrhagic peritonitis. Initially, the chest tube drained fecal fluid. Drainage reduced over time and the chest tube was removed on the fourth post-operative day. Post-operative pain improved under combined intense intravenous and oral pain medication, which allowed stepwise mobilization.\nThe further post-operative course was complicated by a right-sided pleural effusion. A thoracentesis was performed, but only a small amount of purulent effusion could be evacuated. Pigtail catheter insertion remained unsuccessful. A thoracic CT scan was added and revealed a pleural effusion rim enhancement with distributed gas suspicious of infected effusion. A 24 charriere chest tube was inserted, which was complicated by multiple pleural adhesions. The chest tube was removed four days later after drainage reduced significantly. As laboratory infection signs remained elevated and the patient became febrile a further thoracic CT scan was performed, which showed increasing rim enhancement now suspicious of pleural empyema (Figures 2A,B). The actual situation was discussed in detail with the patient. Initially, she did not understand why a second surgical intervention was necessary. Once again imaging was presented. The patient gave consent for thoracic surgical intervention on the 13th post-operative day. For explorative video-assisted thoracoscopy (VATS) the patient was intubated with a double lumen endotracheal tube for single lung ventilation and placed in the left lateral decubitus position. A mini thoracotomy was performed at the sixth intercostal space. Due to solid pleuritic formations this approach had to be converted to open thoracotomy following empyema (stage II-III) evacuation (Figures 2C,D) and right-sided pleural decortication. After extensive intrathoracic lavages a 24 charriere right-sided chest tube was placed apical-dorsal and another chest tube in the costodiaphragmatic recess. Antibiotic treatment was switched to levofloxacin and linezolid. The further post-operative course was uneventful and the chest tubes were removed on the fifth and seventh post-operative day, respectively. The early post-operative chest X-ray revealed a small residual right-sided pleural effusion and opacity due to basal hypoventilation accompanied by a moderate elevation of the right hemidiaphragm. No signs of residual empyema or hernia recurrence were detected (Figures 3A,B).\nThe patient was discharged in a stable condition one month after admission. Follow-up clinical examination and chest X-ray one year after initial surgical repair of right-sided Bochdalek hernia did not show any signs of recurrence and only slight right-basal hypoventilation (Figures 3C,D). The summary of the preoperative workup, hospitalization, and follow-up is shown in Figure 4.",
"gender": "Female"
}
] |
PMC8639588
|
[
{
"age": 34,
"case_id": "PMC9946755_01",
"case_text": "An active 34-year-old male presented with bilateral symptomatic medial OCD lesions. Body-mass index was 30 kg/m2 with genu varum, no muscular atrophy, and mild effusions bilaterally. Range of motion (ROM) was 0 of hyperextension, 0 extension, and 135 flexion bilaterally. Menisci and ligamentous examinations were normal, with medial femoral condyle pain on palpation in the right greater than the left knee. Preoperative radiographs demonstrated underlying genu varum with large medial femoral OCD lesions and a right knee Kellgren-Lawrence (KL) grade 2 and left knee KL grade 1 (Figures 2(a), 2(b), and 2(c)).\nHip-to-ankle radiographs demonstrated femoral-tibial angles of 8 on the right and 3 on the left (Figure 3(a)). There was no patellofemoral involvement on Merchant's views (Figure 3(b)).\nNo preoperative magnetic resonance imaging (MRI) was available due to work-related issues and timing. The patient decided to proceed with diagnostic arthroscopy and if indicated, planned biopsy from the intercondylar notch. At arthroscopy, a loose body was removed from the lateral compartment (Figures 4(a) and 4(b)).\nA large, irregular OCD lesion with a femoral chondral fragment with necrotic bone and medial tibial wear was seen in the medial compartment (Figures 5(a), 5(b), 5(c), and 5(d)).\nAn unstable irreparable osteochondral fragment was removed, and pathology assessment revealed a cartilaginous fragment with osteonecrotic bone base (2.0 x 1.5 x 0.5 cm). Intra-operative measurements demonstrated a lesion size of 3.0 x 4.5 cm with a bony depth of 2 cm. A cartilage biopsy from the right knee intercondylar notch was obtained (Figures 6(a), 6(b), 6(c), and 6(d)), and due to the large defect size, two MACI membranes were automatically ordered.\nBased on the preoperative work-up, diagnostic arthroscopy, bony depth, and lesion size, the decision was made to proceed with right knee MACI \"Sandwich\" technique with concomitant HTO followed by left knee surgery, allowing adequate time for recovery.\nA 6 cm anteromedial subvastus approach and HTO with 10 correction were performed (Figures 7(a), 7(b), 7(c), 7(d), and 8(a)).\nA large, poorly contained lesion measuring 3 x 4.5 cm was demonstrated (Figure 8(b)). The periphery of the lesion was demarcated with a # 15 blade, and ringed curettes were used to remove damaged cartilage to normal vertical borders. A shelf was created between normal subchondral bone plate level and bone defect. Sclerotic bone and intralesional osteophytes were removed with a high-speed burr creating a healthy bleeding base (Figure 8(c)). The site was drilled with a 1.5 mm drill bit at 3 mm increments to increase blood flow into the lesion (Figure 8(d)).\nIliac crest ABG was obtained, and bone impacted into the defect up to, but not above, the subchondral bone plate level demarcated by the previously created shelf (Figure 9(a)). Three absorbable micro-anchors were placed along the poorly contained region of the intercondylar notch. A Keith needle was used to create osseous tunnels incrementally along the medial border of the lesion. The lesion required the entire MACI graft. Fibrin sealant was placed over the base of the lesion (Figure 9(b)). The first graft was placed smooth-side facing towards the bone graft and sewn into position using the micro-anchors along the intercondylar notch region (Figure 9(c)); additional 5-0 vicryl sutures were placed using the osseous tunnels previously created with the Keith needle, and 6-0 vicryl sutures were placed proximally and distally at the normal articular cartilage margins (Figure 9(d)).\nThe second graft was placed with the cell layer facing into the defect and sewn into position using the same sutures (Figures 10(a), 10(b), and 10(c)). Fibrin sealant was placed around the periphery of the lesion (Figure 10(d)). Standard closure was performed.\nContinuous passive motion (CPM) machine with ROM to 30 flexion increasing by 15 per week was started on post-operative day (POD) # 1 with full active-assisted ROM initiated and CPM machine discontinued at 4 weeks; full ROM and immobilization were discontinued at 6 weeks. Toe-touch weight-bearing was allowed locked in extension on POD # 1, 25% partial weight-bearing (PWB) at 2 weeks, 25-50% PWB at 4 weeks, and full weight-bearing as tolerated at 6 weeks. Exercycle, elliptical, and core muscle strength programs were initiated at 6-8 weeks.\nPost-operative radiographs at 3 (Figures 11(a) and 11(b)) and 6 months (Figures 12(a) and 12(b)) revealed improved medial joint space, appropriate contour, fill, and bone incorporation.\nAll patient-reported outcome measures (PROMs) significantly improved from baseline at 13 months. Lysholm and International Knee Documentation Committee (IKDC) scores improved by 37 and 54 points, respectively (Figure 13(a)). Knee Injury and Osteoarthritis Outcome Score (KOOS) pain and symptom scores improved 47 and 35 points, respectively, while KOOS sports improved by 75 points and quality of life increased by 81 points at the 13-month follow-up (Figure 13(b)). The PROMs delta augmentation prevails over the minimum clinically important difference (MCID).\nLeft knee pain improved as right knee pain improved (Figure 14).\nThe left knee PROMs stabilized (Figures 15(a) and 15(b)) and PSF-12 measurements improved by 21 points at 9 months (Figure 16).",
"gender": "Male"
}
] |
PMC9946755
|
[
{
"age": 68,
"case_id": "PMC10318351_01",
"case_text": "A 68-year-old female patient was referred to our institution for AS. She has a past medical history of hypertension and hypothyroidism as well as a recent diagnosis of urothelial carcinoma. She is a chronic smoker with a 30-pack-year history. Routine transthoracic echocardiography (TTE) reported a left ventricular ejection fraction of 60%-64% and a calcified aortic valve with a mean gradient (MG) of 40 mmHg and an aortic valve area of 0.8 cm2. Virtual basal ring sizing showed a perimeter of 70.2 mm2 with an area of 378.4 mm2 and a sinutubular junction of 24.6 mm. Pre-procedural cardiac catheterization showed non-obstructive coronary artery disease (Figure 1A). Further assessment with computed tomographic (CT) angiography demonstrated atherosclerotic calcifications of the aortic root, thoracic aorta, and coronary arteries and an incidental kidney tumor. Consequently, the heart team opted for TAVI given her need to undergo an urgent nephrectomy for her urothelial carcinoma.\nA 25 mm Navitor valve was successfully deployed under local anesthesia with procedural coronary angiography showing no evidence of obstructive CAD. She had a transient third-degree atrioventricular block that resolved on the table with a normal ECG when she arrived at the cardiac care unit next day. TTE showed an MG 18 mmHg and trivial paravalvular leak. The patient was discharged home one day post-TAVI with a single antiplatelet therapy (SAPT), 100 mg of aspirin daily.\nShe was doing well until 10 days after the procedure when she presented with acute severe chest pain (Figure 2). Immediate ECG showed evidence of inferior myocardial infarction (MI) with ST elevations in leads II and III and ventricular fibrillation (aVF). High sensitivity troponin level was elevated reaching 50,000 pg/ml. She also had an elevated c-reactive protein and white blood count; however, she did not have any fever or positional chest pain. Her blood pressure was 120/60 mmHg. TTE showed evidence of inferior wall hypokinesis. Emergent coronary angiography revealed a thrombus occluding the second segment of the right coronary artery (RCA) (Figure 1B). Angioplasty was performed with implantation of one drug-eluting stent (Figure 1C). The patient's symptoms, ECG changes, and troponin elevations provided evidence in favor of MI instead of other differentials such as pericarditis or aortic dissection following the procedure. She was stabilized and discharged on 75 mg of clopidogrel, 100 mg of aspirin, 5 mg of amlodipine twice daily, and 2.5 mg of bisoprolol twice daily.\nThe etiology of the MI was investigated with a follow-up CT angiography given that the patient did not have evidence of CAD before the procedure. The CT showed a small thrombus between the right coronary and left coronary cusp (Figure 3). The patient was then put on for two weeks on triple therapy: 100 mg of aspirin, 75 mg of clopidogrel, and 15 mg rivaroxaban. This was followed by clopidogrel and rivaroxaban for six weeks. There were no further cardiac or embolic clinical presentations, and the patient was cleared for her nephrectomy.",
"gender": "Female"
}
] |
PMC10318351
|
[
{
"age": 74,
"case_id": "PMC4802983_01",
"case_text": "Our patient was a 74-year-old woman, without any particular pathological antecedents, presenting intermittent and badly systemized bilateral sciatica, along with weaknesses in both lower limbs, gradually progressing for 2 years. This symptomatology got complicated by sphincter disorders characterized by urinary incontinence and constipation. The clinical examination objectified incomplete paraplegia without sensory loss. Patellar and Achilles reflexes were reduced on both the lower limbs. MRI showed an intradural fusiform lesion at L3-L4, with an isosignal on T1 and T2, associated with a central nodular hypersignal on both sequences. The lesion took up the whole spinal canal, making a scallop shape on the vertebral body and laminating its posterior arch. The tumor homogenously enhanced following a gadolinium injection [Figure 1]. The diagnosis for neurinoma was highly suspected. Through an L3 and L4 laminectomy and an opening of the dura mater, the tumor appeared to be grayish red, closed, very hemorrhagic, and tied to the filum terminale. The lesion retracted nerve roots on the back and on the left side without any invasion. The tumor was attached to the filum terminal and his section has facilitated total removal. The patient fully recovered her motor function after a sphincter and motor function rehabilitation. Macroscopically, the anatomopathological examination showed an encapsulated proliferative tumor, lobulated and surrounded by tiny fiber tracts. It was vascularized with large plaques of hemorrhagic suffusion. Microscopically, we showed lobulated cells with eosinophilic cytoplasms, sharply demarcated, with dense and rounded nuclei, pointing in immunohistochemistry neuron-specific enolase (NSE) and chromogranin A (CgA) [Figure 2].",
"gender": "Female"
}
] |
PMC4802983
|
[
{
"age": 83,
"case_id": "PMC4007786_01",
"case_text": "An 83-year-old male patient had a DDD pacemaker (Medtronic Kappa 733) implanted in 1995, because of complete atrioventricular (AV) block. Due to progressive heart failure, the pacemaker was upgraded in 2004 to an ICD with cardiac resynchronization therapy (Guidant Contak Renewal M179, CRT-D). For this purpose a Guidant 0138 ICD shock lead was implanted in the right ventricle and a Medtronic Attain 4194 in a posterolateral branch of the coronary sinus for left ventricular pacing. The preexisting Medtronic 4524 atrial lead was used for atrial pacing and sensing, and the bipolar right ventricular lead was abandoned. \nA hospital admission because of ventricular tachycardias showed successful termination of these tachycardias by ICD shock therapy. Except shock therapy, the patient complained of dizzy spells, which at that time were attributed only to the ventricular tachycardias. However, at the time of device interrogation, the ECG showed intermittent ventricular inhibition. Figure 1 demonstrates intermittent ventricular sensing followed by inhibition after atrial pacing. The interval between atrial pacing and ventricular sensing was estimated from 60 to 70 ms in this recording. Practically sensing is anticipated immediately after time out of the ventricular blanking period, which was programmed at 65 ms. \nInhibition did not occur during atrial sensing, which is a strong indicator of cross-talk sensing. A Holter recording performed 24 hours prior to the device checkup revealed several periods of asystole with duration up to 7.4 seconds as a consequence of cross-talk sensing (Figure 2). The chest X-ray showed normal lead positions; there was no evidence of lead damage which was confirmed by unchanged values of lead impedances.\nThe pacing parameters were DDD 65 till 110 beats/min and dynamic AV delay 160 ms/100 ms pacing output in atrial and RV 2.6 V at 0.06 ms, and LV 3.0 V at 0.5 ms, the RV-blank after A-pace was 65 ms, and the RV sensitivity was set to nominal.\nNeither prolongation of the ventricular blanking period to 85 ms nor decreasing atrial output to 1.0 V at 0.5 ms could eliminate cross-talk sensing. Finally, cross-talk sensing disappeared after programming right-ventricular sensitivity from nominal to the least sensitive setting (Figure 3). Proper sensing during intrinsic rhythm and ventricular fibrillation during DFT testing was confirmed at this sensitivity setting.",
"gender": "Male"
}
] |
PMC4007786
|
[
{
"age": 9,
"case_id": "PMC8337056_01",
"case_text": "A 9-year-old girl was admitted to Dongguan Children's Hospital 6 months ago due to breast development. Since the patient had no other obvious symptoms, we did some laboratory tests to help diagnose. A gonadotropin releasing hormone (GnRH) stimulation test showed that the peak values of luteinizing hormone (LH) and follicle-stimulating hormone (FSH) were 8.03 and 14.97 IU/L, with an LH/FSH ratio of 0.53. Based on her premature breast development, test results and the absence of relevant personal or family history, she was diagnosed with precocious puberty and treatment with a monthly intramuscular injection of triptorelin (decapeptyl) was initiated. The patient also received imaging examinations to exclude underlying diseases. Unexpectedly, ultrasonography indicated a single, solid, focal liver lesion in S5. Enhanced computed tomography (CT) showed hyperenhancement of the lesion in the arterial phase, which was 17mm x 18mm in size, with a hypodense central stellate scar visible inside the region (Figure 1A). The lesion became isodense in portal venous and delayed phases, and the stellate scar showed slight enhancement. A diagnosis of FNH was considered. CT re-examination 6 months later showed that the lesion had increased to 23mm x 19mm x 18mm in size. According to ultrasound, the lesion was non-homogeneous, slightly hyperechoic with an unclear boundary, and located 1mm away from the gallbladder and 3mm away from the colon. Color Doppler ultrasound revealed spoke-wheel blood flow, with the feeding artery being from the S5 hepatic artery branch (Figure 1B). Contrast-enhanced ultrasound (CEUS) indicated a radiant artery and hyperenhancement of the lesion, which was 29mm x 25mm in size, in the arterial phase (Figure 1C), portal phase and delayed phase.\nAn APLIO I700 ultrasound system with a PVT-674BT 10C3 abdominal probe (Canon, Japan, 2020), incisive CT (PHILIPS, 2020), and definition flash CT (SOMATOM, 2017) were used for diagnosis. A 100A1 microwave generator (2,450 MHz) and an ECO-100CI10 MWA antenna (Yigao, Nanjing, China) were employed for MWA. SonoVue (Bracco, Italy) was utilized as the contrast agent for ultrasound and was prepared as a suspension with 5 ml of 0.9% normal saline (N.S.). For transvenous use of the contrast agent, 1 ml of SonoVue was injected through a central venous catheter, followed by 5 ml of N.S. For intracavitary use, the ratio of N.S. and SonoVue was 100:1. A coaxial needle (15 G) and an automatic biopsy gun (18 G, BARD, USA) were applied for biopsy and a central venous catheterization set (Arrow, USA) was used for abdominal cavity intubation.\nArtificial ascites-assisted ultrasound-guided MWA and biopsy were carried out under general endotracheal anesthesia. Under ultrasound guidance, we performed abdominal cavity intubation, and SonoVue in N.S. at 40 C was infused into the abdominal cavity. Under CEUS, we observed hyperechoic contrast agent distribution between the gallbladder and the hepatic margin close to the lesion, indicating that this fluid could provide a cooling effect during thermal ablation (Figure 2). We also inserted a guide wire near the position of the gallbladder and then inserted an expansion tube, which were used together to push the gallbladder wall away to avoid thermal injury.\nUnder color Doppler ultrasound guidance, the microwave antenna was inserted directly to the site of the feeding artery (Figure 3A), and after 2 min of ablation at 60 W, CEUS showed no blood flow perfusion in the tumor (Figure 3B). Three biopsy specimens were then collected using a coaxial needle and an automatic biopsy gun. The microwave antenna was inserted through the coaxial needle to ablate the biopsy needle track after ablating the lesion. After biopsy, the tumor border near the gallbladder was ablated, followed by the peripheral part of the tumor and, finally, the interior of the tumor. After ablation, complete ablation of the whole lesion was observed by CEUS. Additionally, the gallbladder wall showed blood perfusion, indicating that the thermal ablation procedure did not cause necrosis in the gallbladder wall (Figure 4A). Moreover, the contrast agent did not enter the ascites, which indicated no needle track bleeding.\nPost-operative medications included cefixime granules as an anti-inflammatory agent and compound glycyrrhizin capsules to protect liver function. The abdominal drainage tube was removed on the second day after the operation, and the patient was discharged on the sixth day. Examination by magnetic resonance imaging (MRI) 1 month later showed that the tumor was completely ablated and that the gallbladder was not injured (Figure 4B). Based on ultrasonography after another 3 months, there were no significant changes in the ablation zone and no blood flow signal inside it. Additionally, the gallbladder exhibited no obvious abnormity.",
"gender": "Female"
}
] |
PMC8337056
|
[
{
"age": 28,
"case_id": "PMC7166055_01",
"case_text": "Table 1 shows the main results extracted from the case series and case reports. A total of 521 cases of pregnant women with laboratory-confirmed brucellosis were reported in the included 27 publications. The median of sample size of these seven case series studies was 33, ranging from 19 to 242. The mean/median maternal ages were basically the same (about 28 years old, respectively), ranging from 16 to 50 years. Pregnant women presented symptoms across all the trimesters, the proportion of pregnant women with brucellosis presented symptoms at the first trimester ranged from 12.9% to 57.9%, while it ranged from 22.2% to 51.6% at the second trimester. The most commonly used laboratory tests for brucellosis were serum agglutination test (SAT) and blood/bone marrow culture, which were used in 85.7% and 71.4% studies among the case series, respectively, and 66.7% and 45.5% cases were diagnosed with brucellosis using SAT and blood/bone marrow culture respectively among the case reports. The incidence of brucellosis occurred in pregnant women ranged from 1.5% to 5.8%. As for the adverse obstetric outcomes, the rate of abortion ranged from 2.5% to 53.0%, the rate of preterm delivery ranged from 3.4% to 31.3% and the IUFD rate ranged from 2.1% to 9.8%. \nMost pregnant women with brucellosis had a history of consumption of cheese or non-pasteurized dairy products (92.3% in the study by Kurdoglu et al and 90.8% in the study by Vilchez et al) or living in a low socioeconomic class or rural areas. There were no neonates infected with brucellosis in the included case series study in Turkey, while the rate of congenital brucellosis was 6.4% in the included case series study in Peru. Regarding the severity of brucellosis, a 31-week pregnant woman who presented with a 3-week history of the disease died on the disseminated intravascular coagulation (DIC) in the study by Vilchez et al.\nTable 2 shows the detailed clinical manifestations, diagnostic methods and obstetric outcomes of pregnant women with brucellosis, which were extracted from the included case reports. The duration of delayed diagnosis could only be speculated for eight cases, ranging from 7 days to 5 months.\nAnd we recorded the clinical manifestations as the frequency of occurrence and percentage (%) in the descending order in Table 3, the pooled proportions were calculated. A total of 36 clinical manifestations were extracted from the included articles, and the most common clinical manifestations were fever (400, 76.8%), joint pain/swelling/arthralgia (389, 74.7%), sweats (382, 73.3%), fatigue/asthenia/weakness (262, 50.3%) and back pain (189, 36.3%). Among the seven case series, the study by Vilchez et al reported the largest varieties of clinical manifestations (20/36, 55.6%), and the top three were fever (97.0%), malaise (85.1%) and sweats (77.2%). Among the 33 individual cases, a total of 29 (85.3% of 36) kinds of clinical manifestations were reported, the most common clinical manifestations were fever (66.6%), sweats (51.5%), joint pain/swelling/arthralgia (39.4%) and vaginal bleeding (24.2%). There were five (13.7% of 36) kinds of clinical manifestations that were only reported in the case reports, such as membrane rupture, oligohydramnios and breast pain, while there were no records about such as constipation, rash and depression in the included case reports. It is worth mentioning that one patient from the included case reports complained of both auditory hallucinations, dull/delirious, hand tremors and insomnia. \nAs for the clinical manifestations of the involved body systems among pregnant women with brucellosis, osteoarticular system was mostly involved, 74.7% of the pregnant women with brucellosis presented joint pain/swelling/arthralgia. A proportion of 12.3% of the patients presented the symptoms of cardiovascular system as hypoxia. For the clinical manifestations of reproductive system, vaginal bleeding (9.0%) was the most common clinical manifestation, followed by abdominal pain/distension/pelvic pain (7.5%).\nAmong the 32 included individual cases that with available obstetric outcome information, 10 (31.3%) women suffered preterm delivery, 12 (37.5%) had an abortion and 3 (9.8%) had intrauterine fetal death. And among the 12 patients who had an abortion, 5 (41.7%) of them experienced vaginal bleeding.",
"gender": "Female"
}
] |
PMC7166055
|
[
{
"age": 59,
"case_id": "PMC5818931_01",
"case_text": "The patient was a 59-year-old male former smoker with a past medical history of stage 1-2/4 type I left sided renal cell carcinoma status after robotic partial nephrectomy, parathyroid adenoma status after resection, history of probable idiopathic thrombocytic purpura status after splenectomy, hypertension, diabetes mellitus type 2, coronary artery disease with past myocardial infarction and stent placement, and internal pacemaker-defibrillator placement. The patient had begun complaining of progressive fatigue, arthralgias, myalgias, and back pain beginning approximately one year before diagnosis at his primary care provider's office, which initially seemed to be associated with his, at the time, recent parathyroid resection. Lyme's disease, endemic in the patient's geographic region and often considered in nonspecific presentations with these symptoms, was ruled out by antibody assay. On retrospective analysis of the patient's history, he apparently had worked at a local university in maintenance and did not have a known history of employment in manufacturing or significant chemical handling. There was no known family history of genetic conditions that would predispose the patient to multiple malignancies.\nThe patient progressively worsened over months; he developed nausea, dry heaving, and decreased appetite. CT of the chest and HIDA scan had been performed which revealed nonobstructive cholelithiasis with normal gallbladder function. The patient subsequently underwent a noncontrast CT of abdomen and pelvis, which revealed a large abdominal mass measuring 7 cm x 5.5 cm abutting the mid portion of the transverse colon, with numerous metastatic foci in the liver, lymphadenopathy adjacent to the pancreatic head, a large lytic lesion involving the tenth rib, and scattered lytic areas throughout the spine and left iliac wing (Figure 1). The patient then underwent core biopsy of the abdominal mass.\nInitial core biopsy of the abdominal mass revealed highly vascular tissue, the majority necrotic, with small atypical cells seen on frozen section. Immunohistochemical staining for RCC was negative. CD10 was equivocal with chromogranin A and podoplanin (D240) both being negative. Vimentin was strongly positive. A consult was made, an additional staining including Cam 5.2, CD31, and ERG. Cam 5.2 revealed rare mesothelial cells and the vascular proliferation was positive for both CD31 and ERG. It was concluded that the degree of necrosis precluded a definitive diagnosis but that a vascular neoplasm or well-differentiated angiosarcoma could not be excluded.\nRepeat core liver biopsy and immunohistochemical staining were performed at an outside institution. The liver biopsy delineated a very hypercellular specimen (Figure 2(a)). The tumor was comprised of a prominent vasoformative network (Figure 2(b)). The endothelial lining cells were plump and pleomorphic. They had high nuclear to cytoplasmic ratio with hobnailing hyperchromatic nuclei. The cytoplasm was eosinophilic with indistinct cell borders. The cytology delineated a hypercellular aspirate (Figure 3). The cells formed a tightly cohesive cluster of epithelioid cells. The cells harbored hyperchromatic nuclei with eosinophilic cytoplasm. On occasion, the cytoplasm demonstrated cytoplasmic vacuoles and intracytoplasmic lumina. Focally, the clusters were composed of very atypical spindle cells. The cytology specimen stained negative for cytokeratin AE1/AE3 and positivity for CD31 and CD34. Since the specimen stained for two vascular immunohistochemical stains (CD31 and CD34) in conjunction with pancytokeratin negativity, a diagnosis of angiosarcoma was rendered (Figures 2(c) and 2(d)).\nThe patient was scheduled for systemic chemotherapy with doxorubicin as well as palliative, single modality radiation therapy of the spine. Radiation was completed first. The patient's chemotherapy regimen was changed to taxol rather than doxorubicin due to low ejection fraction seen on MUGA scan. However, prior to initiation of chemotherapy the patient was hospitalized for confusion, lethargy, and enterococcal bacteremia. The decision was made to discharge the patient with hospice care and he died 13 days later.",
"gender": "Male"
}
] |
PMC5818931
|
[
{
"age": 0,
"case_id": "PMC8081048_01",
"case_text": "A 2-month-old male infant was admitted to our hospital with a 1 month history of persistent white stools.\nThe meconium of the child was dark green. Three days later, his stool turned yellow. After that, the stool color gradually became white stool over the next month. The test results of the infant's liver function were: albumin 16.5 g/L, total bilirubin (TB) 35.2 mumol/l, direct bilirubin (DB) 27.7 mumol/l, and total bile acid (TBA) 63.0 mumol/l. The child had taken probiotics and the symptoms did not improve.\nThe patient had no significant past medical history. And the mother's pregnancy was uneventful.\nAt the time of admission, the infant's body weight was 3400 g (<3rd percentile) and his height was 60 cm (50-70th percentile). The physical examination revealed hepatomegaly (4 cm below the ribs with soft texture) and pitting edema of both lower limbs. No abnormality was revealed for the consciousness, cardiopulmonary examination, and nervous system examination.\nRoutine laboratory testing upon admission showed hemoglobin was 63 g/L, packed cell volume 19.9%, normal mean-cell volume, mean cell hemoglobin concentration was at the lower end of normal, and platelets 304 x 109/L. The patient was tested negative for hepatitis A, B, and, C, syphilis, HIV, TORCH, EBV-IgM antibody, and EBV DNA; his thyroid function and blood coagulation function were within the normal range. The patient's blood glucose during admission was normal and blood and urine tandem mass spectrometry showed that the amino acid and acylcarnitine spectrum analysis were normal. Cytomegalovirus IgM test was positive. Liver function tests revealed slightly elevated levels of TB, DB, and gamma-glutamyltransferase (gamma-GT) (shown in Table 1).\nThe cardiac ultrasound showed no abnormalities. The chest radiograph was normal. Abdominal ultrasound showed hepatosplenomegaly, liver parenchyma echoes, but the gallbladder and pancreas were normal.\nIn order to differentially diagnose whether there is biliary atresia (BA), we perfected the examination of liver, gallbladder, spleen color Doppler ultrasound, and gallbladder contraction. In order to differentially diagnose cardiogenic edema, we perfected the cardiac color Doppler ultrasound. The infant's parents refused to permit cholangiography and a liver biopsy. Due to the unclear diagnosis, we performed a genetic test. The infant's genetic analysis showed a CFTR hemizygous mutation site (c.223C>T) in exon 3 and exon 2-3 heterozygous deletion mutation. A genetic verification of the infant's parents was also performed; the father had a point mutation and the mother had a CFTR gene exon 2-3 heterozygous deletion mutation (shown in Figure 1). To further verify whether the child had pancreatic exocrine insufficiency, we tested fecal pancreas elastase 1 and the result was 0.6 mug/g, significantly lower than the normal value of 200 mug/g. Stool testing showed fat globules of 70-80/HP. These findings, combined with the manifestations of cholestasis, supported the diagnosis of CF. Because our hospitals and other testing institutions cannot perform a sweat chloride test, we did not perform it.\nAfter hospital admission, the infant was placed on a lactose-free fortified medium-chain fatty acid milk powder feeding, oral ursodeoxycholic acid (UDCA) 30 mg/(kg.d), and supplemented with fat-soluble vitamins A, D, E, and K. The stool color remained unchanged. Fecal pancreas elastase 1 suggested that the child had insufficient pancreatic exocrine function, so aspergillus oryzae pancreatic enzymes tablets (half a tablet once, three times per day) were added 2 weeks after diagnosis. Two weeks after the oral pancreatic enzyme tablets were administered, the color of the infant's stool changed to yellow and his weight increased (shown in Figure 2).",
"gender": "Male"
},
{
"age": 0,
"case_id": "PMC8081048_02",
"case_text": "On follow-up, liver function test was performed every 1 month and abdominal ultrasound every 2 months. The oral medication was well-tolerated by the child without adverse reactions. Two months after diagnosing the infant with CF, his TB, DB, and TBA decreased to normal levels (shown in Table 1), but the infant had a cough for 1 month, and his chest CT scan showed he had sacculus expansion of the lungs. The infant's physical examination revealed an enlarged liver (4 cm below the ribs with soft texture) in a 6-month old. Now, he is 1 year old with yellow soft stools, his body weight is 8500 g (3rd percentile), his height is 72 cm (3rd percentile). He has not had a cough for nearly 4 months, but still has an enlarged liver (2 cm below the ribs with soft texture).\nUsing \"cystic fibrosis,\" \"* stool,\" and \"infant*\" as keywords, we found three relevant articles in PubMed consisting of a total of four case reports with white stool as the first symptom; one was a domestic case report (seen in Table 2). Including this infant, there are a total of five children (three males and two females) with an average age of 2 months that have presented with white stools and diagnosed with CF. Anemia was present in all five children, edema and hypoproteinemia in four, changes in stool color in five (pistachio-green in two patients, pale colored stool one, acholic stool in one, and white stool in one patient), cholestasis in two patients, delayed meconium discharge in one, delayed growth in three, hepatomegaly in three, and splenomegaly in two infants. One child presented with respiratory symptoms at the onset.\nTwo children had an abnormal sweat test: one had a F508del compound heterozygous mutation and the other child had three mutation sites (C.214G>G/A, P.A72T; C.650A>A/G, P.E217G, and C.3406G>G/A, P. A1136T), which was a compound heterozygous mutation.\nThe female infant (the fourth case) died because of a massive pulmonary hemorrhage. The stool changed to yellow in two infants after oral pancreatic enzymes were administered. The prognosis of the male infant (the third case) was good by UDCA and supporting treatment.",
"gender": "Female"
}
] |
PMC8081048
|
[
{
"age": 31,
"case_id": "PMC6743703_01",
"case_text": "A 31-year-old male fell from a balcony approximately 40-50 feet height. On admission with a GCS score of 5, he was unable to move his extremities and had no rectal tone. A computed tomography (CT) scan of the cervical spine demonstrated bilateral locked facets at C6/C7 [Figure 1a-d] and C7/T1 [Figure 1f-i] with Grade 1 anterolisthesis at C7/T1. There was also a C6/C7 arthroplasty that was performed a few weeks before the event [Figure 1e].\nThe magnetic resonance imaging (MRI) scan demonstrated injury to the C6/C7 and C7/T1 ligaments: the ligamentum flavum and interspinous, anterior, and posterior longitudinal ligaments [Figure 1j]. This was accompanied by severe canal narrowing and a high intramedullary cord signal/edema at these levels, plus a small C5-T1 epidural hemorrhage. The brain MRI also demonstrated several foci of punctate hemorrhage consistent with diffuse axonal injury requiring placement of an intracranial pressure monitor.\nThe patient underwent emergent posterior spinal decompression with fusion from C4 to T2. The pedicles of C7 were fractured bilaterally and several attempts to achieve reduction were unsuccessful. The posterior elements of C7 were considerably loose due to the bilateral pedicle fractures. Ultimately, removal of the superior facets of C7 and T1 allowed for C6-C7 and C7-T1 reduction. The left C8 nerve root was entirely exposed due to the lateral mass fracture at C7 and was exposed further to ensure decompression of the C8 roots. A postoperative CT scan demonstrated adequate localization of the instrumentation and alignment despite slight unilateral facet subluxation at C6/C7 and minor unilateral facet subluxation at C7/T1 [Figure 2]. Postoperatively, the patient was monitored closely in the ICU. He had upper extremity function but appeared plegic in the lower extremities without sphincter tone. He ultimately expired secondary to his severe brain injury.",
"gender": "Male"
}
] |
PMC6743703
|
[
{
"age": 25,
"case_id": "PMC6345152_01",
"case_text": "Diana (a pseudonym) is a young woman of 25 years old that reached the Eating Disorders Centre, Division of Endocrine and Metabolic Diseases, San Luca Hospital in Milan, following a dramatic weight loss. Diana reached the Centre with a BMI of 16.06 kg/m2 reporting several disruptions in her eating patterns and several distressful alterations in her body image perception. As reported in the clinical history, Diana's first eating related crisis was dated back 2 years before her current admission, with a subtle episode when she started a diet to lose some weight after health issues related to her thyroid. During that period, Diana was located abroad for work and - under moderate stress - she began a restrictive diet with a low caloric intake that brought her to lose 10 kg in 6 months. Diana's weight remained constant in the following months but she developed an obsessive attention to the caloric intake along with intrusive thoughts regarding her weight and regarding specific types of foods. Diana also reported body-related image distortions such as overvaluation of her weight, mirror and body checking, and avoidance of body exposure. Moreover, during the crises, she reported frequent crying spells observing her body in front of a mirror.\nIn the last year, Diana reported a stressful situation at the University that heightened her psychological symptoms. Following these new difficulties, Diana re-enacted the restrictive conducts, reducing the caloric intake with a consequent weight loss of 4 kg in a month. In the period before the admission, the restrictive conduits were accompanied by self-induced vomit and daily binge episodes.\nDiana matched all the DSM-5 criteria for a diagnosis of AN, binge-purge subtype. Compatible with the diagnosis, Diana presented distortions in her body perception and obsessive thoughts regarding her weight and her body image; for these reasons, she was considered as an optimal candidate for the interoceptive assessment.\nAt the begin of the rehabilitative protocol, Diana's blood panels showed no signs of metabolic distress, with values in normal ranges. At her admission, Diana's thyroid levels were within normal range and they remained within the normal range during the curse of the treatment. Endocrinologist suggested a chronic autoimmune normal-functioning condition. The psychiatric assessment indicated mood alterations toward a depressive condition accompanied by severe sleep difficulties and insomnia.\nThe rehabilitative program was composed of a multidisciplinary approach that included several experts in different fields: endocrinology, psychiatry, psychology, and nutrition. The specialists collaborated in an outpatients service tailored to the specific users' needs. The rehabilitative program could extend from two to four cycles of treatment. Diana followed a two-cycle rehabilitative protocol with a frequency of 3 sessions a week for a total of 37 sessions. The protocol was composed of psychological intervention with group psychotherapy and individual sessions focused upon a psyco-corporal therapy approach (body-oriented psychotherapy). Psychological intervention was accompanied by psychiatric and pharmacological support (citalopram and mirtazapine), to moderate Diana's mood alterations. The rehabilitative protocol was integrated with alimentary education sessions provided by the nutritionist. Additionally, the protocol was also accompanied by a nutritional program with fixed meals (both in quantity and composition) that Diana consumed under supervision. Scheduled assessment sessions ensured an adequate monitoring of the progress.\nFrom the beginning, Diana showed a deep insight regarding her condition. Nonetheless, from her first session, Diana showed severe difficulties in following the assigned rehabilitative diet due to obsessive thoughts connected to her body weight and to certain types of food. In the following weeks, Diana improved her adherence to the recovery protocol with a better ability to follow the changes in the diet both on quantitative both on the qualitative level (e.g., types of foods consumed). Diana reached a BMI of 19.00 kg/m2 at the end of her second cycle of rehabilitative treatment. Considering the noticeable improvements regarding her eating behaviors and her general clinical condition, Diana was dismissed from the Centre and continued her program following only monthly assessments accompanied by individual psychotherapy.",
"gender": "Female"
}
] |
PMC6345152
|
[
{
"age": 27,
"case_id": "PMC6167587_01",
"case_text": "A 27-year-old male with underlying congenital hydrocephalus and paraplegia was admitted to the hospital due to infected sacral sore. He had a placement of a ventriculoperitoneal shunt when he was a child. Upon admission, he also complained of progressively having difficulty in passing urine and leaked urination but he denied dysuria, hematuria, and pyuria. On examination of his genitalia, the prepuce was deformed and enlarged with phimosis. To our surprise, there was a huge stony hard foreign body under the prepuce measuring 5 x 5 cm in size (Figure 1). It was visualised through the stenosed prepuce. Otherwise, the testes were normal and abdominal examination revealed no significant finding.\nA pelvic radiograph was arranged and revealed a well-rounded radiopaque lesion in his penile region representing a large stone (Figure 2). Ultrasound of the kidney, ureter, and bladder (KUB) revealed an absence of proximal tract stone. A Foley's catheter was inserted to assist his urination, and it drained minimal amount of clear urine. His serum creatinine level was elevated initially but resolved after hydration. He was then planned for circumcision and removal of the preputial stone once his sacral sore improved. After almost a month in the ward, he finally underwent the circumcision. A flexible cystoscopic examination beforehand showed a trabeculated and small contracted bladder with no urethral stricture seen. The circumcision was undertaken using a dorsal slit technique. A huge preputial stone measuring 4 x 4 cm was uneventfully retrieved (Figures 3 and 4). His recovery went well without any complication postoperatively.",
"gender": "Male"
}
] |
PMC6167587
|
[
{
"age": 46,
"case_id": "PMC6111644_01",
"case_text": "A 46-year-old male patient presented to the dermatology outpatient department with 1-year history of sensory loss and paresthesia over bilateral lower legs. He was admitted and evaluated for Hansen's disease. On examination, there was no cutaneous lesion suggestive of leprosy. Peripheral nerve trunks were not thickened. Sensory loss to touch, pain, and temperature was present over the distal part of legs and feet bilaterally. Ankle jerk was diminished bilaterally. No trophic ulcer was present. Higher mental function and cranial nerve examination were within normal limits. There was no sign of meningeal irritation. Motor examination did not reveal weakness in any major muscle groups. Slit skin smear taken from earlobes did not demonstrate any acid-fast bacilli. A skin biopsy was taken from hypoesthetic skin of the right leg and sent for histopathology. Initial investigations including complete blood count, liver and renal function tests, fasting plasma glucose, and urine examination did not reveal any abnormality. In such a clinical scenario, the possibility of Hansen's disease was remote, and therefore, a neurologist's opinion was sought. The patient was then advised to go for HIV serology and to our surprise found to be reactive for HIV-1 with CD4 count of 160 cells/mm3. On retrospective questioning, the patient gave a history of on-and-off fever, fatigue, weight loss, and recurrent pyodermas. He also had multiple high-risk sexual exposures several years back. He was diagnosed as a case of HIV neuropathy-distal symmetric polyneuropathy (DSP) type and started on antiretroviral therapy (ART).",
"gender": "Male"
}
] |
PMC6111644
|
[
{
"age": 0,
"case_id": "PMC8313121_01",
"case_text": "To further investigate possible central nervous system abnormalities, when he was 8 months old, the boy underwent a brain Magnetic Resonance Imaging (MRI), which showed typical signs of hypoxic-ischemic encephalopathy, in association with a diffuse white matter myelination delay:more pronounced in both optic radiations:and pons hypoplasia (Figure 1). A muscle biopsy, performed at the age of 9 months, revealed signs of muscle damage including round and small fibers and the presence of cytoplasmic vacuoles. In addition, using specific staining, we also detected enlargement and abnormality on the shape of the neuromuscular junctions (NMJ; Figure 2).\nSoon after his first birthday, he was admitted to the Emergency Department for a prolonged seizure lasting for ~10 min, and not resolving after endorectal diazepam administration. During admission, severe hypoglycemia (<1.1 mmol/L) and low plasmatic cortisol levels were detected. Hence, the boy was diagnosed with central hypoadrenalism, and replacement therapy (hydrocortisone) was started. A Growth Hormone Releasing Hormone (GHRH)-arginine stimulation test was then performed: growth hormone levels resulted in the normal range of response.\nGenetic studies, including karyotype, array-Comparative Genome Hybridization (CGH), Sanger sequencing of the MAGEL2 gene (due to a clinical suspect of Schaaf-Yang disease), and a gene panel including n = 52 genes associated with neurodevelopmental disorders and epileptic encephalopathies, were all reported as normal. To investigate the molecular etiology of the phenotype in the affected individual, we then performed exome sequencing (ES) of the proband and his parents. This led to the identification of a pathogenic hemizygous variant in ZC4H2 [NM_018684.4: c.593G>A (p. R198Q)], predicted as deleterious by several in-silico tools, including CADD, SIFT, PolyPhen, and MutationTaster. The variant is also regarded as pathogenic in ClinVar (VCV000050981.1; https://www.ncbi.nlm.nih.gov/clinvar, last accessed May 31, 2021).",
"gender": "Male"
}
] |
PMC8313121
|
[
{
"age": 11,
"case_id": "PMC7527615_01",
"case_text": "An 11-year-old male presented with gradual left breast enlargement for one year duration. Frequently he visited pediatricians and provisionally diagnosed as a case of gynecomastia with reassurance and observation. Past medical, surgical, family and drug history, all were negative.\nA firm swelling involving left anterior chest wall elevating the nipple and areolar region. The swelling was ill-defined, non-tender, non-fluctuating, non-illuminating with normal overlying skin. Vital signs were with the normal ranges.\nHematological tests were normal. Ultrasound examination showed a thick wall cystic lesion with internal debris and bone erosion suspecting chronic infection. CT scan of chest revealed a cystic lesion with fluid content measuring 12 x 8 cm in size connecting with a similar cystic lesion in the substernal area through a hole in the fifth rib (Fig. 1, Fig. 2).\nUnder general anesthesia, in supine position, through anterolateral incision, a thick wall cystic lesion under the skin with a very thick pus content was found connecting to another similar lesion in the anterior mediastinum through a hole in the fifth rib with localized thickening of the pleura. Both of the lesions, the fifth rib with a part of fourth rib and a piece of pleura were resected and sent for histopathological examination which revealed multiple granuloma with caseating material, typical for TB. The wound was closed in layers after insertion of intrathoracic drain (Fig. 3).\nThe postoperative course was uneventful. The patient was put on anti-TB regular regimen for three months.",
"gender": "Male"
}
] |
PMC7527615
|
[
{
"age": 61,
"case_id": "PMC9170507_01",
"case_text": "A 61-year-old gentleman with no significant medical history presented with the three weeks history of intermittent epistaxis, nasal block, and loss of weight. Physical examination was unremarkable, and he did not have lymphadenopathy or hepatosplenomegaly. Rigid nasal endoscopy revealed a smooth surface mass covering the entire left nasal cavity, pushing the nasal septum to the right and bleeds easily on contact. Subsequently, a CT scan of the paranasal sinus, neck, and thorax revealed a mass over left frontal and ethmoid sinuses which occupied almost the entire left nasal cavity. Incidentally, there was a well-defined heterogeneously enhancing mass at the left paravertebral region (7.1 x 7.8 x 7.8 cm) with extension into left T7/8 neural foramina (Figure 1). Initial laboratory investigation showed white blood cell (WBC) count of 14.2 x 103/uL, hemoglobin (Hb) of 13.8 g/dL, and platelet count of 377 x 103/uL, with normal renal and hepatic function. His lactate dehydrogenase (LDH) was 141 U/L (upper limit of normal: 246). Hepatitis B, hepatitis C, and HIV serologies were nonreactive. Nasopharyngeal mass biopsy was performed, and histological examination highlighted diffuse infiltration by the atypical medium to large lymphoid cells and exhibited multiple membrane bound nucleoli. Immunohistochemistry (IHC) showed that the neoplastic cells were diffusely positive for CD79a, MUM-1, and CD56 and focally positive for PAX-5 (Figure 2). These cells were negative for CD20, CD30, ALK-1, CD3, CD5, CD10, Bcl-2, Bcl-6, CD138, HMB45, and S-100. Nuclear proliferation as assessed by Ki-67 was almost 100%. Unfortunately, Epstein-Barr virus (EBV) encoded RNA by IHC was not performed. Based on the morphological and IHC characteristics, diagnosis of PBL was made. Bone marrow biopsy did not show any marrow infiltration. CT-guided biopsy of the paraveterebral mass was done to rule out possible neurogenic tumour as PBL has rarely been associated with a paravertebral mass. However, the results were inconclusive due to the inadequate sample. He was scheduled for a repeated CT-guided biopsy of the paravertebral mass, and his histopathological examination results came back later which revealed ancient schwannoma. Surprisingly, he reported resolution of his symptoms after the first biopsy of the paravertebral mass, and hence, treatment for PBL was not initiated. Spontaneous regression of his PBL was further confirmed by a repeat rigid nasal endoscopy, which showed good patency of both nasal cavities, and a repeat CT scan of the paranasal sinuses, which revealed spontaneous regression of his left nasal mass (Figure 3). A watch-and-wait approach was employed, and he was followed up closely to look for any evidence of recurrence. He remained in remission during his last follow up after 4 years from diagnosis.",
"gender": "Male"
}
] |
PMC9170507
|
[
{
"age": 54,
"case_id": "PMC5320041_01",
"case_text": "A 54-year-old Hispanic male presented to the clinic with chronic dyspepsia and uncontrolled reflux symptoms not responding to acid-suppression therapy with a proton pump inhibitor (PPI). His past history was remarkable for sleeve gastrectomy one year previously. PPI therapy was stopped two weeks prior to endoscopy to promote the yield of a Helicobacter pylori (H. pylori) test. Esophagogastroduodenoscopy revealed gastric-like mucosa 2 cm in diameter in the proximal esophagus, suggestive of an inlet patch (Fig. 1). The biopsy of the esophageal lesion confirmed the gastric mucosa, showing mild chronic inflammation and a positive immunohistochemical stain for H. pylori (Fig. 2). Biopsies from the gastric mucosa were only significant for chronic gastritis, with a negative H. pylori stain.\nGutierrez et al suggested that 73% of cases of H. pylori gastritis were associated with H. pylori infection of an inlet patch and that such an infection is highly related with the density of H. pylori colonies in the stomach. To our knowledge and to date, this report is the first case of isolated H. pylori infection in a cervical inlet patch without concurrent H. pylori gastritis.\nThe case is also unique because of the prior history of sleeve gastrectomy. The mechanism of isolated H. pylori infection in patients who have undergone sleeve gastrostomy remains unclear; our proposed theory is that the altered stomach anatomy reduces its isolation and promotes H. pylori colonization in other parts of the gastrointestinal tract.\nFurther studies are warranted to confirm the mechanism of isolated H. pylori colonization in a cervical inlet patch and its association with sleeve gastrectomy.",
"gender": "Male"
}
] |
PMC5320041
|
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