openmed-community/multicare-case-images

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PMC7566087_01_gr1.jpg	PMC7566087_gr1_undivided_1_1.webp	Chest CT shows multiple pulmonary patchy infiltrates.	This was confirmed by computed tomography (CT), raising the suspicion of an underlying opportunistic infection or lymphoproliferative disorder (Fig. 1).	fig0005	PMC7566087_01	PMC7566087	file_0109873	PMC7566087_01	CC BY-NC-ND
PMC7566087_02_gr2.jpg	PMC7566087_gr2_undivided_1_1.webp	Colonoscopy shows a bulging mass at the ileocecal valve.	Colonoscopy showed a bulging mass arising from the ileocecal valve, suspicious for a tumoral process from which biopsies were taken (Fig. 2).	fig0010	PMC7566087_02	PMC7566087	file_0109874	PMC7566087_02	CC BY-NC-ND
PMC1236954_01_1477-7800-2-19-1.jpg	PMC1236954_1477-7800-2-19-1_undivided_1_1.webp	Computed tomography, showing cholelithiasis with thickening of gallbladder anterior wall (arrow in the figure).	An investigation with upper gastrointestinal endoscopy, computed tomography of chest and abdomen showed cholelithiasis with thickening of gallbladder anterior wall (arrow in the figure 1).	F1	PMC1236954_01	PMC1236954	file_0010830	PMC1236954_01	CC BY
PMC6700242_01_fneur-10-00823-g0001.jpg	PMC6700242_fneur-10-00823-g0001_A_1_3.webp	(A) Axial fluid attenuated inversion recovery (FLAIR) image demonstrated cortico-subcortical atrophy and chronic cerebrovasculopathy. (B) Diffusion weighted imaging (DWI) did not show acute lesions. (C) Neurophysiological studies showed absence of the left sural and the right ulnar sensory nerve action potentials, mildly increased latency of the facial nerve CMAP, and normal repetitive facial nerve stimulation.	Another electromyography was repeated 3 days later, displaying a predominantly sensory polyradiculoneuropathy, characterized by increased facial nerve latency and absence of sural, ulnar, and radial sensory nerve action potentials (SNAP) (Figure 1C); ulnar nerve F-wave seemed not clearly detectable.	F1	PMC6700242_01	PMC6700242	file_0095585	PMC6700242_01	CC BY
PMC5622815_02_PAMJ-27-245-g002.jpg	PMC5622815_PAMJ-27-245-g002_undivided_1_1.webp	Right kidney with solid mass in the hilar region	It was resected en bloc with adjoining peri-hilar lymph nodes (Figure 2). The patient made a smooth post-operative recovery and is being planned for commencement of immunotherapy with Sunitinib (Figure 1, Figure 2, Figure 3, Figure 4).	f0002	PMC5622815_02	PMC5622815	file_0073002	PMC5622815_02	CC BY
PMC5622815_02_PAMJ-27-245-g003.jpg	PMC5622815_PAMJ-27-245-g003_A_1_1.webp	Micrograph showing (A) dilated bellini ducts in the renal medulla	The patient made a smooth post-operative recovery and is being planned for commencement of immunotherapy with Sunitinib (Figure 1, Figure 2, Figure 3, Figure 4).	f0003	PMC5622815_02	PMC5622815	file_0073003	PMC5622815_02	CC BY
PMC8645473_01_SNI-12-553-g003.jpg	PMC8645473_SNI-12-553-g003_a_1_2.webp	Brain magnetic resonance imaging in sagittal slices where intra-axial image is observed in the left precuneus. T1 with gadolinium (a) and T2 (b).	T2, located in the convexity of the left pre-cuneus, surrounded by significant perilesional edema. The lesion showed significant ring enhancement with the passage of the contrast medium [Figure 3].	F3	PMC8645473_01	PMC8645473	file_0127948	PMC8645473_01	CC BY-NC-SA
PMC8645473_01_SNI-12-553-g004.jpg	PMC8645473_SNI-12-553-g004_a_1_3.webp	Right cervical region of the patient shows perilesional erythema and exudate through the surgical wound (a), as well as surgical images, with the extraction of the endovenous catheter and resection of surrounding granuloma (b and c).	We opened the jugular vein to remove the catheter and subsequently ligated the vein [Figure 4].	F4	PMC8645473_01	PMC8645473	file_0127950	PMC8645473_01	CC BY-NC-SA
PMC5803942_01_IDOJ-9-44-g001.jpg	PMC5803942_IDOJ-9-44-g001_undivided_1_1.webp	Lax nasolabial folds	Cutaneous examination revealed loose hanging ear lobes, blepharochalasis, lax nasolabial folds, and increased folds over the neck, axilla, and trunk [Figures 1-3].	F1	PMC5803942_01	PMC5803942	file_0077194	PMC5803942_01	CC BY-NC-SA
PMC5803942_01_IDOJ-9-44-g002.jpg	PMC5803942_IDOJ-9-44-g002_undivided_1_1.webp	Increased cutaneous folds over the neck, chest, and axillary region	Cutaneous examination revealed loose hanging ear lobes, blepharochalasis, lax nasolabial folds, and increased folds over the neck, axilla, and trunk [Figures 1-3].	F2	PMC5803942_01	PMC5803942	file_0077195	PMC5803942_01	CC BY-NC-SA
PMC5803942_01_IDOJ-9-44-g003.jpg	PMC5803942_IDOJ-9-44-g003_undivided_1_1.webp	Increased cutaneous folds over the back	Cutaneous examination revealed loose hanging ear lobes, blepharochalasis, lax nasolabial folds, and increased folds over the neck, axilla, and trunk [Figures 1-3].	F3	PMC5803942_01	PMC5803942	file_0077196	PMC5803942_01	CC BY-NC-SA
PMC5803942_01_IDOJ-9-44-g005.jpg	PMC5803942_IDOJ-9-44-g005_undivided_1_1.webp	Marked reduction in elastic fibers in the superficial and deep reticular dermis with mild reduction of elastic fibers in the papillary dermis. Orcein stain, x10	Skin biopsy showed markedly reduced elastic fibers [Figures 4 and 5].	F5	PMC5803942_01	PMC5803942	file_0077197	PMC5803942_01	CC BY-NC-SA
PMC7531809_01_42399_2020_548_Fig2_HTML.jpg	PMC7531809_42399_2020_548_Fig2_HTML_undivided_1_1.webp	Chest computed tomography from July 6 showing a subpleural focal ground-glass densification area in the right lateral basal segment (arrow)	While at home (July 6), he had chest computed tomography (CT), which had been ordered to exclude signs of sarcoidosis as part of the secondary demyelinating disease workup and which revealed a peripheral ground-glass opacity compatible with early COVID-19 (Fig. 2).	Fig2	PMC7531809_01	PMC7531809	file_0109231	PMC7531809_01	NO-CC CODE
PMC7531809_01_42399_2020_548_Fig3_HTML.jpg	PMC7531809_42399_2020_548_Fig3_HTML_undivided_1_1.webp	Chest computed tomography from July 15 showing diffuse bilateral ground-glass opacities with some areas of "crazy-paving" pattern and extensive subpleural consolidation of the lower lobes		Fig3	PMC7531809_01	PMC7531809	file_0109232	PMC7531809_01	NO-CC CODE
PMC5320816_01_JNSBM-8-133-g001.jpg	PMC5320816_JNSBM-8-133-g001_a_1_2.webp	Peripheral angiogram shows right common iliac artery stenosis of 90% at proximal and distal edges of the stent (a), right femoropolpiteal graft is thrombosed, left common iliac artery shows multifocal areas of narrowing and occlusion of 90% (b)	Computed tomography (CT) peripheral angiogram was revealed diffuse internal thickening with wall calcification noted in aorta causing 40% diameter stenosis, right common iliac artery (CIA) in-stent restenosis of 90% at proximal and distal edges of the stent [Figure 1a], right femoropopliteal graft is thrombosed and left CIA shows multifocal areas of narrowing and occlusion of 90% [Figure 1b].	F1	PMC5320816_01	PMC5320816	file_0064482	PMC5320816_01	CC BY-NC-SA
PMC5320816_01_JNSBM-8-133-g002.jpg	PMC5320816_JNSBM-8-133-g002_a_1_2.webp	Terumo wire (0.035) and exteriorized through left femoral artery (a). Right femoral artery approach was used for deploying right common iliac artery stent. 8 mm x 55 mm peripheral balloon was used and serial predilatation done (b)	Terumo wire and exteriorized through left femoral artery [Figure 2a]. The right femoral arterial approach was used for deploying CIA stent. Serial predilatation was done using 8 mm x 55 mm peripheral balloon [Figure 2b].	F2	PMC5320816_01	PMC5320816	file_0064484	PMC5320816_01	CC BY-NC-SA
PMC5320816_01_JNSBM-8-133-g003.jpg	PMC5320816_JNSBM-8-133-g003_undivided_1_1.webp	8 mm x 120 mm medtronic self-.expanding stent was deployed in the right common iliac artery and 7 mm x 150 mm medtronic self-expanding stent deployed in the left common iliac artery. Postdilatation with simultaneous kissing at aortoiliac junction was done using 8 mm x 55 mm balloon in right common iliac artery and 7 mm x 40 mm balloon in left common iliac artery. Postprocedure showed good distal flow	Postprocedure showed good distal flow [Figure 3].	F3	PMC5320816_01	PMC5320816	file_0064486	PMC5320816_01	CC BY-NC-SA
PMC5320816_01_JNSBM-8-133-g004.jpg	PMC5320816_JNSBM-8-133-g004_undivided_1_1.webp	Computed tomography peripheral angiogram shows patent stent seen in relation to distal aorta, left common iliac artery, external right common iliac artery	CT peripheral angiogram was done after 1 week which showed patent stent seen in relation to distal aorta, left CIA, external, right CIA [Figure 4].	F4	PMC5320816_01	PMC5320816	file_0064487	PMC5320816_01	CC BY-NC-SA
PMC6260389_01_gr1.jpg	PMC6260389_gr1_undivided_1_1.webp	Patient 1 preoperatively.	The overlying mucosa was ulcerated in the middle, with a deciduous incisor exfoliating through the lesion (Fig. 1).	fig0005	PMC6260389_01	PMC6260389	file_0086317	PMC6260389_01	CC BY
PMC6260389_01_gr2.jpg	PMC6260389_gr2_undivided_1_1.webp	Excised lesion from Patient 1 following first surgery.	Subsequently, a second surgery was performed in April 2015, with tumour excision via a transoral approach (Fig. 2, Fig. 3).	fig0010	PMC6260389_01	PMC6260389	file_0086319	PMC6260389_01	CC BY
PMC6260389_01_gr4.jpg	PMC6260389_gr4_undivided_1_1.webp	Three-year postoperative photograph of Patient 1 showing satisfactory healing.	The patient's subsequent recovery was uneventful; she has been followed up for over three years, with no incidence of recurrence clinically or radiographically (Fig. 4, Fig. 5).	fig0020	PMC6260389_01	PMC6260389	file_0086320	PMC6260389_01	CC BY
PMC6260389_02_gr6.jpg	PMC6260389_gr6_undivided_1_1.webp	Preoperative 3D reconstruction CT of patient 2, showed marked expansion of the Left maxilla.	Computed Tomography revealed an expansile lesion of the left maxilla with poorly-defined margins (Fig. 6, Fig. 7).	fig0030	PMC6260389_02	PMC6260389	file_0086321	PMC6260389_02	CC BY
PMC6260389_02_gr8.jpg	PMC6260389_gr8_undivided_1_1.webp	Intraoperative image of Patient 2 prior to tumour excision.	The surgical defect was closed primarily with the use of a buccal fat pad and no reconstructive procedure was taken (Fig. 8, Fig. 9).	fig0040	PMC6260389_02	PMC6260389	file_0086322	PMC6260389_02	CC BY
PMC6260389_02_gr10.jpg	PMC6260389_gr10_undivided_1_1.webp	Clinical image of Patient 2 two years postoperatively.	The patient has been followed up for over two years following the MNTI excision, with no signs of recurrence clinically or radiographically (Fig. 10).	fig0050	PMC6260389_02	PMC6260389	file_0086318	PMC6260389_02	CC BY
PMC3555002_01_IJO-61-43-g002.jpg	PMC3555002_IJO-61-43-g002_undivided_1_1.webp	Histopathology showing glandular elements with two layered lining epithelium in myxoid matrix	No evidence of lacrimal gland tissue was noted in multiple sections [Fig. 2].	F2	PMC3555002_01	PMC3555002	file_0023008	PMC3555002_01	CC BY-NC-SA
PMC4900127_01_gr2.jpg	PMC4900127_gr2_A_1_3.webp	20-year-old female with Cushing's syndrome. Abdominal CT images were obtained in the axial (A), sagittal (B), and coronal (C) planes, 75 seconds after the administration of IV contrast. A heterogeneously enhancing mass measuring 8x4.5x7cm arose from the left adrenal gland. Portions of the mass had ill-defined borders, and there was suggestion of invasion into the retroperitoneal fat at the posterior margin of the lesion (arrow). There was no evidence for invasion of the adjacent pancreas or kidney.	Portions of the mass showed poorly defined margins, raising suspicion for local invasion into the retroperitoneal fat (Figs. 2A-C).	fig2	PMC4900127_01	PMC4900127	file_0055671	PMC4900127_01	CC BY-NC-ND
PMC4900127_01_gr3.jpg	PMC4900127_gr3_undivided_1_1.webp	20-year-old female with Cushing's syndrome. Gross specimen.	An elongated, lobulated, left adrenal mass weighing 136g was removed (Fig. 3).	fig3	PMC4900127_01	PMC4900127	file_0055674	PMC4900127_01	CC BY-NC-ND
PMC4900127_01_gr4.jpg	PMC4900127_gr4_A_1_3.webp	20-year-old female with Cushing's syndrome. On light microscopy, the vast majority of the tumor showed a lobular-to-solid growth pattern with deeply eosinophilic cytoplasm (A). A few vacuolated foci were present (B). The adrenocortical carcinoma (ACC) showed extensive infiltration into fat (C), and large nodular foci were present in separately submitted periadrenal soft tissue.	On light microscopy, the vast majority of the tumor showed a lobular-to-solid growth pattern with deeply eosinophilic cytoplasm (Fig. 4a). A few vacuolated foci were present (Fig. 4b). The adrenocortical carcinoma (ACC) showed extensive infiltration into the adjacent fat (Fig. 4c).	fig4	PMC4900127_01	PMC4900127	file_0055675	PMC4900127_01	CC BY-NC-ND
PMC4178356_01_NJMS-5-47-g001.jpg	PMC4178356_NJMS-5-47-g001_undivided_1_1.webp	Extraoral photograph of patient	Swelling extends to involve bilateral body of mandible [Figure 1].	F1	PMC4178356_01	PMC4178356	file_0036248	PMC4178356_01	CC BY-NC-SA
PMC4178356_01_NJMS-5-47-g002.jpg	PMC4178356_NJMS-5-47-g002_undivided_1_1.webp	Intraoral photograph of patient	There was bleeding from lower left canine region on palpation [Figure 2].	F2	PMC4178356_01	PMC4178356	file_0036249	PMC4178356_01	CC BY-NC-SA
PMC4178356_01_NJMS-5-47-g003.jpg	PMC4178356_NJMS-5-47-g003_undivided_1_1.webp	Histopathological picture	The central portion of the island was composed of loose network of cells showing squamous metaplasia [Figure 3].	F3	PMC4178356_01	PMC4178356	file_0036250	PMC4178356_01	CC BY-NC-SA
PMC4178356_01_NJMS-5-47-g004.jpg	PMC4178356_NJMS-5-47-g004_undivided_1_1.webp	Orthopantogram of patient	All mandibular teeth were lost except one molar tooth on either side [Figure 4].	F4	PMC4178356_01	PMC4178356	file_0036251	PMC4178356_01	CC BY-NC-SA
PMC4178356_01_NJMS-5-47-g005.jpg	PMC4178356_NJMS-5-47-g005_undivided_1_1.webp	CT scan-coronal view	No obvious cervical lymphadenopathy [Figures 5 and 6].	F5	PMC4178356_01	PMC4178356	file_0036252	PMC4178356_01	CC BY-NC-SA
PMC4178356_01_NJMS-5-47-g006.jpg	PMC4178356_NJMS-5-47-g006_undivided_1_1.webp	CT scan-axial view	No obvious cervical lymphadenopathy [Figures 5 and 6].	F6	PMC4178356_01	PMC4178356	file_0036253	PMC4178356_01	CC BY-NC-SA
PMC4178356_01_NJMS-5-47-g007.jpg	PMC4178356_NJMS-5-47-g007_undivided_1_1.webp	Intraoperative photograph of patient	The genioglosus and the geniohyoid muscles were tied to the reconstruction plate and the incision was closed [Figures 7-9].	F7	PMC4178356_01	PMC4178356	file_0036254	PMC4178356_01	CC BY-NC-SA
PMC4178356_01_NJMS-5-47-g008.jpg	PMC4178356_NJMS-5-47-g008_undivided_1_1.webp	Postoperative orthopantogram of patient	The genioglosus and the geniohyoid muscles were tied to the reconstruction plate and the incision was closed [Figures 7-9].	F8	PMC4178356_01	PMC4178356	file_0036255	PMC4178356_01	CC BY-NC-SA
PMC4178356_01_NJMS-5-47-g009.jpg	PMC4178356_NJMS-5-47-g009_undivided_1_1.webp	Postoperative photograph of patient	The genioglosus and the geniohyoid muscles were tied to the reconstruction plate and the incision was closed [Figures 7-9].	F9	PMC4178356_01	PMC4178356	file_0036256	PMC4178356_01	CC BY-NC-SA
PMC1192821_02_1477-9560-3-9-3.jpg	PMC1192821_1477-9560-3-9-3_a_1_2.webp	Transthoracic echocardiography: image of the thrombus in the right atrium (a), after treatment complete resolution of the thrombus (b).	Transoesophageal echocardiography revealed a cardiac mass in the right atrium of 20/23 mm size attached into atrial septum protruding through the tricuspid valve into the right ventricle (Figure 3 - see Additional file 3).	F3	PMC1192821_02	PMC1192821	file_0010776	PMC1192821_02	CC BY
PMC4900105_01_gr1.jpg	PMC4900105_gr1_A_1_2.webp	57-year-old female with a midline cerebellar pilocytic astrocytoma with anaplastic features. Conventional MRI T2-weighted scans show a solid and cystic cerebellar mass with surrounding edema on two contiguous slices (A, B).	T2-weighted MRI (Figs. 1A, 1B), which had increased in size from prior studies.	fig1	PMC4900105_01	PMC4900105	file_0055590	PMC4900105_01	CC BY-NC-ND
PMC4900105_01_gr2.jpg	PMC4900105_gr2_A_1_2.webp	57-year-old female with a midline cerebellar pilocytic astrocytoma with anaplastic features. Diffusion tensor axial (A) and coronal (B) tractography in this patient demonstrates displaced but intact cerebellar fiber tracts surrounding the lesion.	Tractography (Figs. 2A, 2B) and FA maps (Fig. 3) suggested on the basis of imaging that fiber tracts surrounding the lesion were displaced, but fiber integrity (as represented by fractional anisotropy) was maintained. This suggested a less aggressive type of neoplastic lesion.	fig2	PMC4900105_01	PMC4900105	file_0055592	PMC4900105_01	CC BY-NC-ND
PMC4900105_01_gr4.jpg	PMC4900105_gr4_A_1_4.webp	57-year-old female with a midline cerebellar pilocytic astrocytoma with anaplastic features. Tumor histology in patient shows features (arrows). A. Dense and loose zones with microcysts. B. Rosenthal fibers and hemosiderin. C. Eosinophilic granular bodies. D. Microcalcifications.	The histopathology showed a largely circumscribed astrocytoma with associated macrocysts, microcalcifications, eosinophilic granular bodies, and rare Rosenthal fibers, consistent with a benign entity such as a pilocytic astrocytoma (PA) (Fig. 4).	fig4	PMC4900105_01	PMC4900105	file_0055594	PMC4900105_01	CC BY-NC-ND
PMC4900105_01_gr5.jpg	PMC4900105_gr5_A_1_4.webp	57-year-old female with a midline cerebellar pilocytic astrocytoma with anaplastic features. Tumor histology in patient shows anaplastic features (arrows). A. Mitotic figures. B. Vascular proliferation. C. Nonpalisading necrosis. D. Necrosis with a pseudopalisade.	However, focally localized atypical features were also present, including a hypercellular focus with increased mitotic activity and pseudopalisading necrosis, and vascular proliferation, consistent with PA with anaplastic features (Fig. 5).	fig5	PMC4900105_01	PMC4900105	file_0055598	PMC4900105_01	CC BY-NC-ND
PMC3604869_01_crn-0005-0031-g01.jpg	PMC3604869_crn-0005-0031-g01_undivided_1_1.webp	T2*-weighted image. The arrow indicates the presence of a microbleed in the left pons.	T2*-weighted imaging, a dark focus of increased susceptibility ('microbleed') was visible in the left pons, in the area of her described symptoms (fig. 1). The symptoms fit well with the location because of the proximity to the corticospinal tract (lesion of which causes contralateral weakness) and the medial longitudinal fasciculus (lesion of which causes double vision due to internuclear ophthalmoplegia.) Dizziness is a rather unspecific symptom but often seen with lesions in the vertebrobasilar circulation.	F1	PMC3604869_01	PMC3604869	file_0024060	PMC3604869_01	CC BY-NC-ND
PMC3604869_01_crn-0005-0031-g02.jpg	PMC3604869_crn-0005-0031-g02_undivided_1_1.webp	Unweighted image (b = 0) in the diffusion-weighted series. In effect it is a T2-weighted image. The arrow points to the bright rim (edema) around the lesion, indicating that the lesion is acute.	On the B-zero diffusion series, the microbleed revealed a rim of T2 hyperintensity consistent with edema and an acute timing of the lesion (fig. 2).	F2	PMC3604869_01	PMC3604869	file_0024061	PMC3604869_01	CC BY-NC-ND
PMC4296998_01_10-1055-s-0033-1364170-i0051cr-1.jpg	PMC4296998_10-1055-s-0033-1364170-i0051cr-1_undivided_1_1.webp	Axial T1-weighted magnetic resonance image evidencing an isointense mass on T1 limited to the right cochlea.	T1 (Fig. 1) with a high contrast enhancement on T1 postgadolinium images (Fig. 2). The lesion showed sharply delineated edges on enhanced T1-weighted images and sharply delineated signal intensity loss in the high-intensity intralabyrinthine fluid on heavily T2-weighted images (Fig. 3).	FI0051cr-1	PMC4296998_01	PMC4296998	file_0038267	PMC4296998_01	NO-CC CODE
PMC4296998_01_10-1055-s-0033-1364170-i0051cr-3.jpg	PMC4296998_10-1055-s-0033-1364170-i0051cr-3_undivided_1_1.webp	Axial T2-weighed magnetic resonance image of the inner ear showing an intracochlear schwannoma as a hypointense mass that has replaced the normal fluid of the right cochlea (arrow).	T1 (Fig. 1) with a high contrast enhancement on T1 postgadolinium images (Fig. 2). The lesion showed sharply delineated edges on enhanced T1-weighted images and sharply delineated signal intensity loss in the high-intensity intralabyrinthine fluid on heavily T2-weighted images (Fig. 3).	FI0051cr-3	PMC4296998_01	PMC4296998	file_0038268	PMC4296998_01	NO-CC CODE
PMC7263430_02_1415-4757-GMB-43-2-e20180271-gf01.jpg	PMC7263430_1415-4757-GMB-43-2-e20180271-gf01_a_1_9.webp	Brain magnetic resonance imaging (MRI). Axial flair sequence MRI at 2 years (a) and 2 years and 9 months (b): A symmetrical and bilateral high-intensity signal is observed the periventricular and peritrigonal white matter in addition to the posterior arm of the internal capsule (red asterisk) and periphery of the thalamus; the accentuation of the sulci and encephalic cisterns results in diffuse encephalic reduction and compensatory ectasia of the supra and infratentorial ventricular system; the diploe is thickened (red arrow), a finding not observed before, which suggests progressive cerebral atrophy (b). Axial T2-weighted imaging at 2 years and 9 months (c) demonstrating symmetric focus with the same CSF sign in the two images in bilateral frontal white matter, suggesting enlargement of Virchow-Robin spaces, although lesion of cystic degeneration or encephalomalacia cannot be excluded. Axial T2-weighted imaging at ages 2 years (d) 2 years and 9 months (e), and coronal T2-weighted sequences at 2 years and 9 months of age (f): note the symmetrical high-intensity signal in the cerebellar hemispheres. Axial T2-weighted sequence at 2 years of age (g) and axial and sagittal T2-weighted imaging at age 2 years and 9 months (h,i): note the bilateral and symmetrical high-intensity signal of the substantia nigra of the cerebellar peduncle, mesencephalic segment, posterior region of the bridge, superior cerebellar peduncle and medulla oblongata.	The electroencephalography suggested parieto-occipital epileptiform discharges, and brain magnetic resonance imaging (MRI) showed bilateral high intensity T2/Flair foci in the periventricular and peritrigonal white matter, internal capsule of the posterior limb and thalamus periphery; additionally, hyperintensities were observed in the cerebral peduncle, midbrain tegmentum, dorsal pons, and medulla oblongata, with a few areas of restricted diffusion, which is typical for mitochondrial disorders (Figure 1).	f1	PMC7263430_02	PMC7263430	file_0102994	PMC7263430_02	CC BY
PMC7263430_02_1415-4757-GMB-43-2-e20180271-gf02.jpg	PMC7263430_1415-4757-GMB-43-2-e20180271-gf02_undivided_1_1.webp	Protein structure and distribution of variants in the C12orf65 gene. The yellow boxes represent the variants described in patients with mild phenotypes, the red boxes the variants in patients with severe phenotype, and the green boxes the variants in patients in whom it was not possible to classify disease severity based on the available clinical information. If just one variant is associated with one patient it was found in the homozygous state; two variants linked to one patient indicates compound heterozygosis. Patients are numbered as in .	The severity of this phenotype can be explained by the variant found, which affects an important functional protein domain (Figure 2). The variants linked to severe phenotypes were more likely to affect the GCQ domain of the protein, although they could impact other protein domains (Figure 2).	f2	PMC7263430_02	PMC7263430	file_0103003	PMC7263430_02	CC BY
PMC3529871_01_11239_2012_806_Fig1_HTML.jpg	PMC3529871_11239_2012_806_Fig1_HTML_a_1_7.webp	Computed tomography and scanning electron microscopic (SEM) images. Contrast-enhanced computed tomography showing a thrombus at the trifurcation of right pulmonary artery (a). Representative SEM images of the removed parts of the thrombus from the right atrium (b and e), lobar pulmonary artery (c and f) and segmental artery (d and g). b-d magnification, x1,000; e-g magnification, x3,500. Scale bar 5 mum	Contrast-enhanced computed tomography revealed large emboli at the right pulmonary artery (PA) trifurcation and in the left PA (Fig. 1a). The microscopic analysis revealed that the atrial thrombus was mainly composed of erythrocytes with few platelet aggregates, and some white cells (Fig. 1b, e). In the thrombi removed from lobar (Fig. 1c, f) and segmental pulmonary arteries (Fig. 1d, g), a stepwise increase in relatively dense fibrin and platelet aggregates was observed. There was a noticeable decrease in the count of erythrocytes and increase in the count of white cells in the thrombotic material removed from lobar and segmental arteries, as compared with the atrial thrombus (Fig. 1).	Fig1	PMC3529871_01	PMC3529871	file_0022521	PMC3529871_01	CC BY
PMC6332758_02_RMB2-18-72-g006.jpg	PMC6332758_RMB2-18-72-g006_undivided_1_1.webp	Course of treatment in Case 2 (identical to Case A in Figure 2). FBT, frozen-thawed blastocyst transfer; LVFX, levofloxacin	She had a successful ongoing pregnancy in her next FBT (Figure 6).	rmb212250-fig-0006	PMC6332758_02	PMC6332758	file_0087928	PMC6332758_02	CC BY-NC-ND
PMC6332758_03_RMB2-18-72-g007.jpg	PMC6332758_RMB2-18-72-g007_undivided_1_1.webp	Course of treatment in Case 3 (identical to Case D in Figure 2). CFDN, cefdinir; DOXY, doxycycline; FBT, frozen-thawed blastocyst transfer; LVFX, levofloxacin; OPU, oocyte pickup	She had a successful ongoing pregnancy in her next FBT (Figure 7).	rmb212250-fig-0007	PMC6332758_03	PMC6332758	file_0087929	PMC6332758_03	CC BY-NC-ND
PMC7007016_01_abd-94-04-0479-g01.jpg	PMC7007016_abd-94-04-0479-g01_A_1_2.webp	A. Diffuse sclerotic hypochromic plaques on the face with alopecia. B. Detail of the dyschromic alte rations, exulcerated lesion on the forehead, alopecia of the eyebrows and temporal margins	There were exulcerations and hypochromic sclerotic plaques on the face, cervical region, upper, and lower limbs, as well as areas of frontal, temporal, and occipital alopecia (Figures 1 and 2).	f1	PMC7007016_01	PMC7007016	file_0099895	PMC7007016_01	CC BY-NC-ND
PMC7007016_01_abd-94-04-0479-g02.jpg	PMC7007016_abd-94-04-0479-g02_A_1_2.webp	A. Sclerotic hypochromic plaques in the upper limbs. B. Detail of dyschromic sclerotic plaque, desquamation, and exulcerated lesion on the back of the hand	There were exulcerations and hypochromic sclerotic plaques on the face, cervical region, upper, and lower limbs, as well as areas of frontal, temporal, and occipital alopecia (Figures 1 and 2).	f2	PMC7007016_01	PMC7007016	file_0099897	PMC7007016_01	CC BY-NC-ND
PMC3761953_01_JCN-2-42-g001.jpg	PMC3761953_JCN-2-42-g001_undivided_1_1.webp	Ultrasound of the fetus revealed a solid mass in the anterior aspect of the neck	A 26-years-old second gravida female reported at 37th week with antenatal ultrasound of the fetus showing well-defined and hyperechoic solid mass of size of 5.5 x 6 centimeters in the anterior aspect of neck [Figure 1].	F1	PMC3761953_01	PMC3761953	file_0027045	PMC3761953_01	CC BY-NC-SA
PMC3761953_01_JCN-2-42-g002.jpg	PMC3761953_JCN-2-42-g002_undivided_1_1.webp	A giant solitary mass seen in the neck	On local examination, there was a neck mass which was solitary, oval, of size about 9 x 5 x 6 cms in midline anteriorly having firm consistency with moderate mobility in all the directions [Figure 2].	F2	PMC3761953_01	PMC3761953	file_0027046	PMC3761953_01	CC BY-NC-SA
PMC3761953_01_JCN-2-42-g003.jpg	PMC3761953_JCN-2-42-g003_undivided_1_1.webp	Computed tomographic showed a heterogeneous mass with nodular calcification extending superiorly into submandibular and inferiorly up to supraclavicular region	CT showed the mass to be of size 8 x 6 x 5 cms and heterogeneous with scattered, nodular calcification extending superiorly into sub-mandibular and inferiorly up to supraclavicular region [Figure 3].	F3	PMC3761953_01	PMC3761953	file_0027047	PMC3761953_01	CC BY-NC-SA
PMC10321783_01_autopsy-13-e2023435-g02.jpg	PMC10321783_autopsy-13-e2023435-g02_A_1_3.webp	Immunohistochemical reactions. A - Most vessels showing positivity for CD34; B - Some vessels were highlighted by alpha-SMA; C - Focal positivity for D2-40. (DAB stain, 10X).	Most vessels were CD34 positive; some were highlighted by alpha-SMA, whereas D2-40 was focal (Figure 2A-C).	gf02	PMC10321783_01	PMC10321783	file_0007845	PMC10321783_01	CC BY
PMC10159324_01_SNI-14-157-g001.jpg	PMC10159324_SNI-14-157-g001_a_1_6.webp	(a and b) Computed tomography revealing thalamic hemorrhage. (c) Anterior-posterior and (d) lateral angiography of the right internal carotid artery before bypass surgery showing Suzuki grade 4 moyamoya disease. (e) Anterior-posterior and (f) lateral angiography of the right vertebral artery demonstrating development of the thalamic channel.	Computed tomography revealed right thalamic hemorrhage with ventricular hemorrhage [Figures 1a and b]. Digital subtraction angiography (DSA) showed MMD (Suzuki grade 4) development of the thalamic channel with hemorrhage in the ipsilateral hemisphere [Figures 1c-f].	F1	PMC10159324_01	PMC10159324	file_0003826	PMC10159324_01	CC BY-NC-SA
PMC10159324_01_SNI-14-157-g002.jpg	PMC10159324_SNI-14-157-g002_a_1_4.webp	(a) Anterior-posterior angiography before revascularization surgery. (b) Lateral angiography of the right external carotid artery at 3 months after revascularization surgery. The angiogram shows a pseudoaneurysm (arrowheads, b) at the middle meningeal artery (arrows, a and b). The diameter of the middle meningeal artery at 6 months after the superficial temporal artery-to-middle cerebral artery (STAMCA) bypass and encephalo-duro-myo-arterio-pericranio-synangiosis (EDMAPS) was larger than that before surgery. (c) Fusion image of computed tomography and right external carotid artery angiography. The pseudoaneurysm is located at the edge of the craniotomy (black arrow). (d) Intraoperative photo of STA-MCA bypass and EDMAPS. The arrow is location of pseudoaneurysm hereafter.	In addition, a pseudoaneurysm was observed in the right posterior branch of the MMA [Figures 2a and b]. The pseudoaneurysm was located immediately under the edge of the craniotomy site [Figure 2c]. Figure 2d demonstrated the intraoperative photo of STAMCA bypass and EDMAPS on ipsilateral hemisphere of pseudoaneurysm development.	F2	PMC10159324_01	PMC10159324	file_0003832	PMC10159324_01	CC BY-NC-SA
PMC10159324_01_SNI-14-157-g003.jpg	PMC10159324_SNI-14-157-g003_a_1_6.webp	(a) Right middle meningeal artery (MMA) angiography shows the indirect bypass to the parietal and occipital lobe. The pseudoaneurysm is located at the posterior branch of the MMA (black arrow). (b) The working angle of coil embolization. The aneurysm size is 4.2 mm x 3.9 mm and neck length is 1.1 mm (black arrow) (c) Intra-aneurysmal embolization using platinum coils. (d) Post-embolization angiography of the MMA reveals patency of the posterior branch of the MMA. (e and f) Follow-up angiography at 1 month after pseudoaneurysm embolization. Complete occlusion of the aneurysm and patency of the middle meningeal artery is observed.	Medical Products, Japan) and microcatheter (Echelon-10, Medtronic, USA) were navigated into the right MMA. Microangiography of the posterior trunk of MMA revealed transdural anastomosis by indirect bypass [Figure 3a]. The aneurysm size was 4.2 mm x 3.9 mm and neck length was 1.1 mm [Figure 3b]. The microcatheter was navigated into the pseudoaneurysm, and the pseudoaneurysm was embolized using five platinum coils (Optima Coil System , BALT, USA) [Figure 3c]. Angiography after embolization showed complete occlusion of the pseudoaneurysm, patency of the MMA, and transdural anastomosis [Figure 3d]. Follow-up DSA performed 1 month after the endovascular treatment showed no recanalization of the pseudoaneurysm [Figures 3e and f].	F3	PMC10159324_01	PMC10159324	file_0003836	PMC10159324_01	CC BY-NC-SA
PMC4438634_02_40557_2015_63_Fig1_HTML.jpg	PMC4438634_40557_2015_63_Fig1_HTML_A_1_7.webp	The occupational processes and tools at workplace. A. The charcoal recycler. B. The on/off button of the charcoal recycler. C. Handling the charcoal bowl. D. Moving the charcoal to the grid pan. E. After a fire is started in the charcoal with the grid pan, the burning charcoal is moved from the pan to the bowl. F. Placing and stirring the burning charcoal beneath the duct for aeration. G. Moving the charcoal bowl to a metal container for delivery to tables.	At Korean barbecue grill restaurant, he worked at the charcoal recycler (Figure 1), which was located outside of the restaurant, and his job was to ignite fresh charcoal or revive the flames of burning charcoal to be placed on customers' tables in the restaurant.	Fig1	PMC4438634_02	PMC4438634	file_0042473	PMC4438634_02	CC BY
PMC5771871_01_CCR3-6-143-g001.jpg	PMC5771871_CCR3-6-143-g001_A_1_2.webp	(A and B) The images show multiple, superficial, noninfected scrotal ulcers.	Genitourinary examination revealed bilateral craggy, hard epididymes, an enlarged and tender right testis, and multiple, superficial, noninfected scrotal ulcers (Fig. 1A and B).	ccr31313-fig-0001	PMC5771871_01	PMC5771871	file_0076094	PMC5771871_01	CC BY
PMC5771871_01_CCR3-6-143-g002.jpg	PMC5771871_CCR3-6-143-g002_A_1_2.webp	(A and B) Intraoperative findings: enlarged right epididymis which was irregular and thickened with mild enlargement of the right testis with an irregular surface lesion, favoring chronic epididymo-orchitis.	He underwent surgical exploration where the right epididymis was noted to be enlarged, irregular, and thickened with mild enlargement of the right testis with an irregular surface lesion, favoring chronic epididymo-orchitis (Fig. 2A and B).	ccr31313-fig-0002	PMC5771871_01	PMC5771871	file_0076096	PMC5771871_01	CC BY
PMC7336922_01_gr1.jpg	PMC7336922_gr1_A_1_3.webp	Chest X-Ray and chest CT scans of neonate.. (A): Chest X-Ray images of neonate, 29 February 2020. (B): Chest CT images of neonate who diagnosed with COVID-19 infection, 29 February 2020. (C): Chest CT images of neonate after treatment, 4 march 2020.	The chest x-ray (Fig. 1A) and HRCT-Scan without contrast (Fig. 1B) were performed from the infant's chest on 29 February 2020. After admission and starting the treatment, the neonate's fever was abated and repeat chest CT-Scan show there was a lower alveolar consolidation on the sixth day of hospitalization (March 4, 2020), but there was still consolidation in the middle lobe of the right lung (Fig. 1C).	fig0005	PMC7336922_01	PMC7336922	file_0105273	PMC7336922_01	CC BY-NC-ND
PMC3012841_01_jkms-26-146-g001.jpg	PMC3012841_jkms-26-146-g001_A_1_2.webp	Facials features of the patient. Our patient expressed the typical facial phenotype comprising epicanthus, midface hypoplasia, flat nasal bridge, small triangular nose with anteverted nostrils, carp-shaped mouth with full lips, and dental diastema at age 6 months (A) and 3 yr (B).	He had a flat and mid-hypoplastic face with prognathism, narrow and upward slanting palpebral fissures with hypertelorism, low-set ears, a small crashed nose, widely spaced incisors, carp-like mouth, and round back (Fig. 1).	F1	PMC3012841_01	PMC3012841	file_0014769	PMC3012841_01	CC BY-NC
PMC3012841_01_jkms-26-146-g002.jpg	PMC3012841_jkms-26-146-g002_A_1_3.webp	Photomicrograph of the peripheral blood of our case with ATR-X syndrome. It shows cells containing HbH inclusions in our patient (A), and also his mother (B) and eldest sister (C).	H (HbH) inclusion bodies. HbH inclusions were detected under the microscope in 1.1% of brilliant cresyl blue stained RBCs, consistent with the diagnosis of ATR-X syndrome (Fig. 2).	F2	PMC3012841_01	PMC3012841	file_0014771	PMC3012841_01	CC BY-NC
PMC6344176_01_medi-98-e13987-g001.jpg	PMC6344176_medi-98-e13987-g001_undivided_1_1.webp	CT-scan showed a low-density mass near the bladder neck and a large number of blood clots in the bladder.	A computed tomography (CT) scan of the abdomen and pelvis showed a mass near the bladder neck and massive blood clots in the bladder (Fig. 1).	F1	PMC6344176_01	PMC6344176	file_0088496	PMC6344176_01	CC BY-NC-ND
PMC6344176_01_medi-98-e13987-g002.jpg	PMC6344176_medi-98-e13987-g002_a_1_2.webp	Angiographic results before (a) and after vascular embolization (b).	Aiming to wait for hematuria to be controlled and then re-cystoscopy before we can perform the treatment, we consulted the interventional department for bladder tumor vascular embolization (Surgery related images shown in Fig. 2) in the hope of controlling bleeding.	F2	PMC6344176_01	PMC6344176	file_0088497	PMC6344176_01	CC BY-NC-ND
PMC6344176_01_medi-98-e13987-g003.jpg	PMC6344176_medi-98-e13987-g003_undivided_1_1.webp	Changes in hemoglobin since admission to hospital.	To elaborate the change of hemoglobin in patient more intuitively, we specially created a line chart (Fig. 3).	F3	PMC6344176_01	PMC6344176	file_0088499	PMC6344176_01	CC BY-NC-ND
PMC7417938_01_gr2.jpg	PMC7417938_gr2_undivided_1_1.webp	Brain magnetic resonance imaging on day 2 demonstrated a round lesion with high intensity on diffusion weighted image (right panel, white arrow) and low intensity in apparent diffusion coefficient (left panel, black arrow) in the splenium of the corpus callosum.	Brain magnetic resonance imaging (MRI) was performed on the second hospital day; a splenium of the corpus callosum lesion appeared with high intensity on diffusion weighted image (Fig. 2).	fig2	PMC7417938_01	PMC7417938	file_0106631	PMC7417938_01	CC BY-NC-ND
PMC8012864_01_ABR-9-71-g001.jpg	PMC8012864_ABR-9-71-g001_undivided_1_1.webp	Ground-glass view in lung computed tomography showing positive for COVID-19	Spiral multislices showed diffuse bilateral ground-glass opacity and crazy paving opacity with peripheral and peribronchovascular distribution, a pattern highly suggestive of COVID-19-associated pneumonia [Figure 1].	F1	PMC8012864_01	PMC8012864	file_0115194	PMC8012864_01	CC BY-NC-SA
PMC8012864_01_ABR-9-71-g002.jpg	PMC8012864_ABR-9-71-g002_undivided_1_1.webp	Peripheral blood showing schistocytes, characteristic of microangiopathic hemolytic anemia	The peripheral blood smear showed schistocytes 3% [Figure 2] without platelet aggregation, suggesting TTP.	F2	PMC8012864_01	PMC8012864	file_0115195	PMC8012864_01	CC BY-NC-SA
PMC7585050_01_gr1.jpg	PMC7585050_gr1_undivided_1_1.webp	Abdominal macroscopic findings of the patient.	An elastic, hard mass was palpable in his right abdomen on physical examination (Fig. 1).	fig0005	PMC7585050_01	PMC7585050	file_0110449	PMC7585050_01	CC BY
PMC7585050_01_gr2.jpg	PMC7585050_gr2_a_1_2.webp	a,b: Abdominal magnetic resonance imaging (T2weighted) showing a large solid tumor approximately 100 mm in diameter protruding into the abdominal cavity from the right hepatic lobe.	Abdominal magnetic resonance imaging revealed a large solid tumor, with a heterogeneous interior on T2-weighted images, approximately 100 mm in diameter, protruding into the abdominal cavity from the right hepatic lobe (Fig. 2).	fig0010	PMC7585050_01	PMC7585050	file_0110450	PMC7585050_01	CC BY
PMC7585050_01_gr3.jpg	PMC7585050_gr3_undivided_1_1.webp	Chest computed tomography showing parenchymal nodules suspicious for metastases in both lungs.	Chest computed tomography (CT) revealed parenchymal nodules considered to be metastases in both lobes of the lungs (Fig. 3).	fig0015	PMC7585050_01	PMC7585050	file_0110452	PMC7585050_01	CC BY
PMC7585050_01_gr4.jpg	PMC7585050_gr4_undivided_1_1.webp	The rupture site on the left side of the tumor.	During the surgery, the left margin of the tumor ruptured and the tumor contents leaked into the abdominal cavity (Fig. 4).	fig0020	PMC7585050_01	PMC7585050	file_0110453	PMC7585050_01	CC BY
PMC7585050_01_gr5.jpg	PMC7585050_gr5_undivided_1_1.webp	Findings of complete removal of tumor protruding from segments 5,6.	Therefore, we performed a partial resection of the liver (segments 5 and 6) along the boundary between the tumor and the healthy liver (Fig. 5).	fig0025	PMC7585050_01	PMC7585050	file_0110454	PMC7585050_01	CC BY
PMC7585050_01_gr6.jpg	PMC7585050_gr6_undivided_1_1.webp	Chemotherapy treatment course (modified SIOPEL-4 regimen) and AFP trends.	The patient received six courses of chemotherapy (modified SIOPEL-4 regimen) in the pediatric department (Fig. 6).	fig0030	PMC7585050_01	PMC7585050	file_0110455	PMC7585050_01	CC BY
PMC3730474_01_IJSTD-34-41-g001.jpg	PMC3730474_IJSTD-34-41-g001_undivided_1_1.webp	Right groin showing multiple excavating ulcers, left groin shows 'Groove sign of Greenblatt' and multiple tense bullae with erosions over thighs and penile shaft	Examination of the left inguinal region also revealed enlarged, grouped, tender inguinal nodes of size 8 x 6 cm present both above and below the inguinal ligament giving the appearance of "Groove sign of Greenblatt" [Figure 1]. Multiple tense bullae filled with clear fluid and erosions were present over upper limbs, lower limbs [Figure 1], and trunk.	F1	PMC3730474_01	PMC3730474	file_0026742	PMC3730474_01	CC BY-NC-SA
PMC5620405_01_TOORTHJ-11-794_F1.jpg	PMC5620405_TOORTHJ-11-794_F1_A_1_4.webp	(Case presentation, initial and intraoperative findings according to the first procedure): (A) Clinical photograph of both forearms showing left (arrow) complete loss of wrist and thumb's extension and incomplete loss of extension in MCP joints II-V; (B) MRI demonstrating the monstrous GL (arrows) which surrounds the proximal radius shaft approximately a half part of its total circumference; (C) Clinical photograph showing the radial nerve (white arrow) which was fixed to the capsule of the GL (blue arrows); (D) Clinical photograph after monobloc removal of the entire GL and careful dissection of the radial nerve showing the overstretching-related partial disruption of the nerve with a gap of 1 cm involving a half part of its overall circumference (arrow).	The strength of extension of the wrist and thumb's extension and abduction was completely lost according to grade 0 in Medical Research Council (MRC) scale (0-5), and the extension in the metacarpophalangeal (MP) joints II-V showed palsy grade 3 in MRC scale (Fig. 1A). MRI revealed a submuscular, clearly demarcated and encapsulated tumor with a homogeneous and high-intensity signal similar to subcutaneous fat which surrounds the proximal radius shaft approximately a half part of its total circumference, and without visible septae inside the tumor after gadolinium injection (Fig. 1B). The radial nerve was carefully dissected, it was fixed to the capsule of the GL (Fig. 1C). After that, an overstretching-related partial disruption of the nerve with a gap of 1 cm involving a half part of its overall circumference was visible (Fig. 1D).	F1	PMC5620405_01	PMC5620405	file_0072981	PMC5620405_01	CC BY
PMC5620405_01_TOORTHJ-11-794_F3.jpg	PMC5620405_TOORTHJ-11-794_F3_A_1_3.webp	(Case presentation, 10-months follow-up): (A) Clinical photographs of both forearms showing left (arrow) good restoration of wrist and long fingers II-V extension; (B) Clinical photograph showing powerful object grasp; (C) Clinical photographs of both forearms showing left (arrows) complete restoration of thumb's extension and abduction, and sufficient thumb's circumduction with a powerful tip-to-tip pinch to the fifth finger.	At the 10-months follow-up, strength of wrist extension, thumb's extension and abduction, and long fingers II-V extension had all improved to grade 4 in MRC scale that was accompanied with a sufficient circumduction of the thumb (Figs. 3A-C).	F3	PMC5620405_01	PMC5620405	file_0072985	PMC5620405_01	CC BY
PMC4724101_01_13620_2016_61_Fig1_HTML.jpg	PMC4724101_13620_2016_61_Fig1_HTML_undivided_1_1.webp	Blood smear (May-Grunwald-Giemsa x1000). Arrow indicates inclusion bodies on erythrocyte surface	An EDTA-anticoagulated blood sample taken on admission revealed a markedly regenerative, severe (haematocrit 9.9 %; ref: 24-46 %) macrocytic anaemia with spherocytes and basophilic stippling present on the blood smear (Figs. 1 and 2) (Table 1).	Fig1	PMC4724101_01	PMC4724101	file_0048941	PMC4724101_01	CC BY
PMC4724101_01_13620_2016_61_Fig3_HTML.jpg	PMC4724101_13620_2016_61_Fig3_HTML_undivided_1_1.webp	Spleen cut surface - the red pulp has a diffuse brick red to brownish discolouration and there is an increased prominence of lymphoid follicles in the white pulp (arrows)	Post mortem examination showed mild hepatomegaly, mild enlargement of the spleen with prominent lymphoid follicles within the white pulp (Fig. 3) and mild lymphadenomegaly of the right pre-scapular lymph node.	Fig3	PMC4724101_01	PMC4724101	file_0048942	PMC4724101_01	CC BY
PMC4724101_01_13620_2016_61_Fig4_HTML.jpg	PMC4724101_13620_2016_61_Fig4_HTML_undivided_1_1.webp	H&E section of lymph node showing EMH (this is an unusual location to find EMH). Both megakaryocytes (arrows) and nucleated erythroid precursors (arrowheads can be seen in clusters within the medullary cords	Numerous aggregates of nucleated erythroid precursors and variable numbers of megakaryocytes were noted in the medullary cords (Fig. 4).	Fig4	PMC4724101_01	PMC4724101	file_0048943	PMC4724101_01	CC BY
PMC4724101_01_13620_2016_61_Fig5_HTML.jpg	PMC4724101_13620_2016_61_Fig5_HTML_undivided_1_1.webp	H&E section of liver showing yellowish-brownish granules in the Kupffer cells	Increased intracytoplasmic accumulation of haemosiderin (confirmed by Perl's Prussian Blue staining) was also noted in Kupffer cells in hepatic sinusoids (Figs. 5 and 6).	Fig5	PMC4724101_01	PMC4724101	file_0048944	PMC4724101_01	CC BY
PMC4724101_01_13620_2016_61_Fig6_HTML.jpg	PMC4724101_13620_2016_61_Fig6_HTML_undivided_1_1.webp	Perl's Prussian Blue staining showing haemosiderin pigments in the Kupffer cells (detected as a blue stain within Kupffer cells)	Increased intracytoplasmic accumulation of haemosiderin (confirmed by Perl's Prussian Blue staining) was also noted in Kupffer cells in hepatic sinusoids (Figs. 5 and 6).	Fig6	PMC4724101_01	PMC4724101	file_0048945	PMC4724101_01	CC BY
PMC5741137_01_CG-CGCR170094F001.jpg	PMC5741137_CG-CGCR170094F001_undivided_1_1.webp	Endoscopy demonstrating a subepithelial mass with overlying ulceration and an adherent clot in the duodenal bulb.	Upper endoscopy demonstrated a subepithelial mass with an overlying ulceration and an adherent clot in the duodenal bulb, with no histological evidence of a malignancy (Figure 1).	F1	PMC5741137_01	PMC5741137	file_0075274	PMC5741137_01	CC BY-NC-ND
PMC5741137_01_CG-CGCR170094F002.jpg	PMC5741137_CG-CGCR170094F002_undivided_1_1.webp	Computed tomography of the subepithelial duodenal mass (vertical arrows) showing air in the gallbladder (horizontal arrow).	Computed tomography (CT) obtained during the initial hospitalization demonstrated air within an inflamed gallbladder that contained stones and sludge, as well as a rounded, well-circumscribed mass in the duodenum (Figure 2).	F2	PMC5741137_01	PMC5741137	file_0075275	PMC5741137_01	CC BY-NC-ND
PMC5741137_01_CG-CGCR170094F003.jpg	PMC5741137_CG-CGCR170094F003_undivided_1_1.webp	Endoscopy demonstrating a mass-like lesion with a small orifice draining bile and small stones.	During suction to appose the lesion against the tip of the echoendoscope, the mass decompressed, and the areas of ulceration morphed into 2 small orifices draining bile and small stones (Video 1; Figure 3).	F3	PMC5741137_01	PMC5741137	file_0075276	PMC5741137_01	CC BY-NC-ND
PMC5741137_01_CG-CGCR170094F004.jpg	PMC5741137_CG-CGCR170094F004_A_1_2.webp	(A) Magnetic resonance imaging demonstrating the resolution of the mass-like density in the duodenum (arrows) and (B) the presence of choledocholithiasis along with the cholecystoenteric fistula.	Subsequent magnetic resonance imaging demonstrated resolution of the mass-like density in the duodenum (Figure 4). A small bile duct stone and subtle contrast opacification of the cholecystoduodenal fistula was also identified (Figure 4).	F4	PMC5741137_01	PMC5741137	file_0075277	PMC5741137_01	CC BY-NC-ND
PMC5741137_01_CG-CGCR170094F005.jpg	PMC5741137_CG-CGCR170094F005_undivided_1_1.webp	Follow-up endoscopy demonstrating decompression of the lesion with persistence of the fistula orifice.	Subsequent endoscopy to assess healing demonstrated the persistence of the fistula orifice and clear decompression of the mass lesion (Figure 5).	F5	PMC5741137_01	PMC5741137	file_0075279	PMC5741137_01	CC BY-NC-ND
PMC6161692_01_fped-06-00245-g0001.jpg	PMC6161692_fped-06-00245-g0001_undivided_1_1.webp	Chest x-ray, prior to commencing treatment.	HRCT evidence of progressive bronchiectasis (see Figures 1, 2), growth and development was excellent (Weight and height 64th centile) with baseline FEV1 3.8 l (93.9%). He had previously cultured Staphylococcus aureus (SA) and PsA (non-mucoid) and had one admission in the previous 12 months, requiring a pulmonary optimization with intravenous Piptazobactam and Tobramycin following a period of wet cough and decline in lung function.	F1	PMC6161692_01	PMC6161692	file_0084870	PMC6161692_01	CC BY
PMC6161692_01_fped-06-00245-g0002.jpg	PMC6161692_fped-06-00245-g0002_undivided_1_1.webp	High resolution CT chest with contrast. Generalized bronchiectasis demonstrated.	HRCT evidence of progressive bronchiectasis (see Figures 1, 2), growth and development was excellent (Weight and height 64th centile) with baseline FEV1 3.8 l (93.9%). He had previously cultured Staphylococcus aureus (SA) and PsA (non-mucoid) and had one admission in the previous 12 months, requiring a pulmonary optimization with intravenous Piptazobactam and Tobramycin following a period of wet cough and decline in lung function.	F2	PMC6161692_01	PMC6161692	file_0084871	PMC6161692_01	CC BY
PMC6161692_01_fped-06-00245-g0003.jpg	PMC6161692_fped-06-00245-g0003_undivided_1_1.webp	MRI, coronal section of right ankle, T1 weighted image.	He was referred to an orthopedic specialist in a near-by provincial center where an MRI identified a suspected tumor in his distal tibia (see Figure 3).	F3	PMC6161692_01	PMC6161692	file_0084872	PMC6161692_01	CC BY
PMC6161692_03_fped-06-00245-g0004.jpg	PMC6161692_fped-06-00245-g0004_undivided_1_1.webp	AP x-ray of right lower leg, cannulated screws transfix the fibular bone graft to the distal right tibial diaphysis.	Four months after diagnosis he underwent distal tibial resection and free fibula flap reconstruction (see Figure 4) which he recovered well from, requiring repeat bone graft to the right tibia 6 months later.	F4	PMC6161692_03	PMC6161692	file_0084873	PMC6161692_03	CC BY
PMC6161692_03_fped-06-00245-g0005.jpg	PMC6161692_fped-06-00245-g0005_undivided_1_1.webp	Percentage of predicted FEV1 at baseline, diagnosis, during chemotherapy and 12 months following completion.	Pulmonary function improved during his treatment from baseline (see Figure 5) with FEV1 4.15 l (102.3% predicted) whilst nutritional status remained stable with weight 64.1 kg (62nd centile).	F5	PMC6161692_03	PMC6161692	file_0084874	PMC6161692_03	CC BY
PMC8574110_01_CEJI-46-45350-g003.jpg	PMC8574110_CEJI-46-45350-g003_A_1_2.webp	Patch test results (after 48 h): A) positive reaction to para-aminosalicylic acid; B) positive reaction to prothionamide	Table 1 and Figure 3. Treatment was adjusted to ethambutol, kanamycin, cycloserine, pyrazinamide, and linezolid, and no new symptoms were observed.	F3	PMC8574110_01	PMC8574110	file_0126769	PMC8574110_01	CC BY-NC-SA
PMC10164996_01_fonc-13-1142819-g001.jpg	PMC10164996_fonc-13-1142819-g001_A_1_3.webp	(A) The patient's preoperative urine cytologic testing results, suggesting urothelial carcinoma. (B, C) Preoperative CTU of the patient.	A urine culture revealed Streptococcus agalactiae, and the results of urine cytologic testing suggested that the transitional cell carcinoma was arranged in a papillary structure with mild-moderate heterogeneity of cells, and urothelial carcinoma was considered ( Figure 1A ). CTU showed a filling defect in the lower right ureter with right hydronephrosis ( Figures 1B, C , arrow).	f1	PMC10164996_01	PMC10164996	file_0004003	PMC10164996_01	CC BY
PMC10164996_01_fonc-13-1142819-g002.jpg	PMC10164996_fonc-13-1142819-g002_A_1_9.webp	Schematic diagram of total intracorporeal laparoscopic kidney autotransplantation. (A) The tumor was located in the distal right ureter. (B) The right middle ureter was clamped using a hem-o-lock clip. (C) Bladder cuff excision. (D, E) The right renal artery and vein were fully clamped and disconnected, respectively, and the right vena cava was sutured. (F, G) Reconstruction of the vascular system after right kidney transplantation. (H) Reconstruction of the urinary tract system. (I) Kidney after transplantation.	The right middle ureter was clamped using a hem-o-lock clip ( Figures 2A, B ), the right ureter-bladder was cuffed and resected, and the cystotomy incision was sutured ( Figure 2C ). The right renal artery and vein were fully clamped and disconnected, respectively, and the right vena cava was sutured ( Figures 2D, E ). The right kidney and right ureter were quickly removed through an incision of approximately 7 cm in length in the right iliac fossa. The right internal iliac vein was clamped at both ends by bulldog clips, and the right vein was reconstructed end-to-end with the right internal iliac vein ( Figure 2F ). Similarly, the right artery was reconstructed end-to-end with the right internal iliac artery ( Figure 2G ). Then, the right ureter was reconstructed end-to-end with the right posterior wall of the bladder ( Figure 2H ), and finally, the right internal iliac vein and arterial hobgoblin were released to restore blood flow to the right kidney, which was rich in vitality ( Figure 2I ).	f2	PMC10164996_01	PMC10164996	file_0004006	PMC10164996_01	CC BY
PMC10164996_01_fonc-13-1142819-g004.jpg	PMC10164996_fonc-13-1142819-g004_undivided_1_1.webp	Patient timeline. CTU, computed tomography urography; LS, Lynch syndrome; BCG, Bacillus Calmette-Guerin.	The postoperative cosmetic results were satisfactory ( Figure 3C ), and the patient is still undergoing close follow-up ( Figure 4 ).	f4	PMC10164996_01	PMC10164996	file_0004015	PMC10164996_01	CC BY

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Chest CT shows multiple pulmonary patchy infiltrates.

This was confirmed by computed tomography (CT), raising the suspicion of an underlying opportunistic infection or lymphoproliferative disorder (Fig. 1).

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Colonoscopy shows a bulging mass at the ileocecal valve.

Colonoscopy showed a bulging mass arising from the ileocecal valve, suspicious for a tumoral process from which biopsies were taken (Fig. 2).

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Computed tomography, showing cholelithiasis with thickening of gallbladder anterior wall (arrow in the figure).

An investigation with upper gastrointestinal endoscopy, computed tomography of chest and abdomen showed cholelithiasis with thickening of gallbladder anterior wall (arrow in the figure 1).

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(A) Axial fluid attenuated inversion recovery (FLAIR) image demonstrated cortico-subcortical atrophy and chronic cerebrovasculopathy. (B) Diffusion weighted imaging (DWI) did not show acute lesions. (C) Neurophysiological studies showed absence of the left sural and the right ulnar sensory nerve action potentials, mildly increased latency of the facial nerve CMAP, and normal repetitive facial nerve stimulation.

Another electromyography was repeated 3 days later, displaying a predominantly sensory polyradiculoneuropathy, characterized by increased facial nerve latency and absence of sural, ulnar, and radial sensory nerve action potentials (SNAP) (Figure 1C); ulnar nerve F-wave seemed not clearly detectable.

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Right kidney with solid mass in the hilar region

It was resected en bloc with adjoining peri-hilar lymph nodes (Figure 2). The patient made a smooth post-operative recovery and is being planned for commencement of immunotherapy with Sunitinib (Figure 1, Figure 2, Figure 3, Figure 4).

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Micrograph showing (A) dilated bellini ducts in the renal medulla

The patient made a smooth post-operative recovery and is being planned for commencement of immunotherapy with Sunitinib (Figure 1, Figure 2, Figure 3, Figure 4).

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Brain magnetic resonance imaging in sagittal slices where intra-axial image is observed in the left precuneus. T1 with gadolinium (a) and T2 (b).

T2, located in the convexity of the left pre-cuneus, surrounded by significant perilesional edema. The lesion showed significant ring enhancement with the passage of the contrast medium [Figure 3].

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Right cervical region of the patient shows perilesional erythema and exudate through the surgical wound (a), as well as surgical images, with the extraction of the endovenous catheter and resection of surrounding granuloma (b and c).

We opened the jugular vein to remove the catheter and subsequently ligated the vein [Figure 4].

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Lax nasolabial folds

Cutaneous examination revealed loose hanging ear lobes, blepharochalasis, lax nasolabial folds, and increased folds over the neck, axilla, and trunk [Figures 1-3].

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Increased cutaneous folds over the neck, chest, and axillary region

Cutaneous examination revealed loose hanging ear lobes, blepharochalasis, lax nasolabial folds, and increased folds over the neck, axilla, and trunk [Figures 1-3].

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Increased cutaneous folds over the back

Cutaneous examination revealed loose hanging ear lobes, blepharochalasis, lax nasolabial folds, and increased folds over the neck, axilla, and trunk [Figures 1-3].

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Marked reduction in elastic fibers in the superficial and deep reticular dermis with mild reduction of elastic fibers in the papillary dermis. Orcein stain, x10

Skin biopsy showed markedly reduced elastic fibers [Figures 4 and 5].

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Chest computed tomography from July 6 showing a subpleural focal ground-glass densification area in the right lateral basal segment (arrow)

While at home (July 6), he had chest computed tomography (CT), which had been ordered to exclude signs of sarcoidosis as part of the secondary demyelinating disease workup and which revealed a peripheral ground-glass opacity compatible with early COVID-19 (Fig. 2).

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Chest computed tomography from July 15 showing diffuse bilateral ground-glass opacities with some areas of "crazy-paving" pattern and extensive subpleural consolidation of the lower lobes

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Peripheral angiogram shows right common iliac artery stenosis of 90% at proximal and distal edges of the stent (a), right femoropolpiteal graft is thrombosed, left common iliac artery shows multifocal areas of narrowing and occlusion of 90% (b)

Computed tomography (CT) peripheral angiogram was revealed diffuse internal thickening with wall calcification noted in aorta causing 40% diameter stenosis, right common iliac artery (CIA) in-stent restenosis of 90% at proximal and distal edges of the stent [Figure 1a], right femoropopliteal graft is thrombosed and left CIA shows multifocal areas of narrowing and occlusion of 90% [Figure 1b].

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Terumo wire (0.035) and exteriorized through left femoral artery (a). Right femoral artery approach was used for deploying right common iliac artery stent. 8 mm x 55 mm peripheral balloon was used and serial predilatation done (b)

Terumo wire and exteriorized through left femoral artery [Figure 2a]. The right femoral arterial approach was used for deploying CIA stent. Serial predilatation was done using 8 mm x 55 mm peripheral balloon [Figure 2b].

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8 mm x 120 mm medtronic self-.expanding stent was deployed in the right common iliac artery and 7 mm x 150 mm medtronic self-expanding stent deployed in the left common iliac artery. Postdilatation with simultaneous kissing at aortoiliac junction was done using 8 mm x 55 mm balloon in right common iliac artery and 7 mm x 40 mm balloon in left common iliac artery. Postprocedure showed good distal flow

Postprocedure showed good distal flow [Figure 3].

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Computed tomography peripheral angiogram shows patent stent seen in relation to distal aorta, left common iliac artery, external right common iliac artery

CT peripheral angiogram was done after 1 week which showed patent stent seen in relation to distal aorta, left CIA, external, right CIA [Figure 4].

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Patient 1 preoperatively.

The overlying mucosa was ulcerated in the middle, with a deciduous incisor exfoliating through the lesion (Fig. 1).

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Excised lesion from Patient 1 following first surgery.

Subsequently, a second surgery was performed in April 2015, with tumour excision via a transoral approach (Fig. 2, Fig. 3).

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Three-year postoperative photograph of Patient 1 showing satisfactory healing.

The patient's subsequent recovery was uneventful; she has been followed up for over three years, with no incidence of recurrence clinically or radiographically (Fig. 4, Fig. 5).

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Preoperative 3D reconstruction CT of patient 2, showed marked expansion of the Left maxilla.

Computed Tomography revealed an expansile lesion of the left maxilla with poorly-defined margins (Fig. 6, Fig. 7).

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Intraoperative image of Patient 2 prior to tumour excision.

The surgical defect was closed primarily with the use of a buccal fat pad and no reconstructive procedure was taken (Fig. 8, Fig. 9).

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Clinical image of Patient 2 two years postoperatively.

The patient has been followed up for over two years following the MNTI excision, with no signs of recurrence clinically or radiographically (Fig. 10).

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Histopathology showing glandular elements with two layered lining epithelium in myxoid matrix

No evidence of lacrimal gland tissue was noted in multiple sections [Fig. 2].

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20-year-old female with Cushing's syndrome. Abdominal CT images were obtained in the axial (A), sagittal (B), and coronal (C) planes, 75 seconds after the administration of IV contrast. A heterogeneously enhancing mass measuring 8x4.5x7cm arose from the left adrenal gland. Portions of the mass had ill-defined borders, and there was suggestion of invasion into the retroperitoneal fat at the posterior margin of the lesion (arrow). There was no evidence for invasion of the adjacent pancreas or kidney.

Portions of the mass showed poorly defined margins, raising suspicion for local invasion into the retroperitoneal fat (Figs. 2A-C).

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20-year-old female with Cushing's syndrome. Gross specimen.

An elongated, lobulated, left adrenal mass weighing 136g was removed (Fig. 3).

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20-year-old female with Cushing's syndrome. On light microscopy, the vast majority of the tumor showed a lobular-to-solid growth pattern with deeply eosinophilic cytoplasm (A). A few vacuolated foci were present (B). The adrenocortical carcinoma (ACC) showed extensive infiltration into fat (C), and large nodular foci were present in separately submitted periadrenal soft tissue.

On light microscopy, the vast majority of the tumor showed a lobular-to-solid growth pattern with deeply eosinophilic cytoplasm (Fig. 4a). A few vacuolated foci were present (Fig. 4b). The adrenocortical carcinoma (ACC) showed extensive infiltration into the adjacent fat (Fig. 4c).

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Extraoral photograph of patient

Swelling extends to involve bilateral body of mandible [Figure 1].

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Intraoral photograph of patient

There was bleeding from lower left canine region on palpation [Figure 2].

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Histopathological picture

The central portion of the island was composed of loose network of cells showing squamous metaplasia [Figure 3].

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Orthopantogram of patient

All mandibular teeth were lost except one molar tooth on either side [Figure 4].

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CT scan-coronal view

No obvious cervical lymphadenopathy [Figures 5 and 6].

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CT scan-axial view

No obvious cervical lymphadenopathy [Figures 5 and 6].

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Intraoperative photograph of patient

The genioglosus and the geniohyoid muscles were tied to the reconstruction plate and the incision was closed [Figures 7-9].

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Postoperative orthopantogram of patient

The genioglosus and the geniohyoid muscles were tied to the reconstruction plate and the incision was closed [Figures 7-9].

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Postoperative photograph of patient

The genioglosus and the geniohyoid muscles were tied to the reconstruction plate and the incision was closed [Figures 7-9].

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Transthoracic echocardiography: image of the thrombus in the right atrium (a), after treatment complete resolution of the thrombus (b).

Transoesophageal echocardiography revealed a cardiac mass in the right atrium of 20/23 mm size attached into atrial septum protruding through the tricuspid valve into the right ventricle (Figure 3 - see Additional file 3).

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57-year-old female with a midline cerebellar pilocytic astrocytoma with anaplastic features. Conventional MRI T2-weighted scans show a solid and cystic cerebellar mass with surrounding edema on two contiguous slices (A, B).

T2-weighted MRI (Figs. 1A, 1B), which had increased in size from prior studies.

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57-year-old female with a midline cerebellar pilocytic astrocytoma with anaplastic features. Diffusion tensor axial (A) and coronal (B) tractography in this patient demonstrates displaced but intact cerebellar fiber tracts surrounding the lesion.

Tractography (Figs. 2A, 2B) and FA maps (Fig. 3) suggested on the basis of imaging that fiber tracts surrounding the lesion were displaced, but fiber integrity (as represented by fractional anisotropy) was maintained. This suggested a less aggressive type of neoplastic lesion.

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57-year-old female with a midline cerebellar pilocytic astrocytoma with anaplastic features. Tumor histology in patient shows features (arrows). A. Dense and loose zones with microcysts. B. Rosenthal fibers and hemosiderin. C. Eosinophilic granular bodies. D. Microcalcifications.

The histopathology showed a largely circumscribed astrocytoma with associated macrocysts, microcalcifications, eosinophilic granular bodies, and rare Rosenthal fibers, consistent with a benign entity such as a pilocytic astrocytoma (PA) (Fig. 4).

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57-year-old female with a midline cerebellar pilocytic astrocytoma with anaplastic features. Tumor histology in patient shows anaplastic features (arrows). A. Mitotic figures. B. Vascular proliferation. C. Nonpalisading necrosis. D. Necrosis with a pseudopalisade.

However, focally localized atypical features were also present, including a hypercellular focus with increased mitotic activity and pseudopalisading necrosis, and vascular proliferation, consistent with PA with anaplastic features (Fig. 5).

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T2*-weighted image. The arrow indicates the presence of a microbleed in the left pons.

T2*-weighted imaging, a dark focus of increased susceptibility ('microbleed') was visible in the left pons, in the area of her described symptoms (fig. 1). The symptoms fit well with the location because of the proximity to the corticospinal tract (lesion of which causes contralateral weakness) and the medial longitudinal fasciculus (lesion of which causes double vision due to internuclear ophthalmoplegia.) Dizziness is a rather unspecific symptom but often seen with lesions in the vertebrobasilar circulation.

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Unweighted image (b = 0) in the diffusion-weighted series. In effect it is a T2-weighted image. The arrow points to the bright rim (edema) around the lesion, indicating that the lesion is acute.

On the B-zero diffusion series, the microbleed revealed a rim of T2 hyperintensity consistent with edema and an acute timing of the lesion (fig. 2).

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Axial T1-weighted magnetic resonance image evidencing an isointense mass on T1 limited to the right cochlea.

T1 (Fig. 1) with a high contrast enhancement on T1 postgadolinium images (Fig. 2). The lesion showed sharply delineated edges on enhanced T1-weighted images and sharply delineated signal intensity loss in the high-intensity intralabyrinthine fluid on heavily T2-weighted images (Fig. 3).

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Axial T2-weighed magnetic resonance image of the inner ear showing an intracochlear schwannoma as a hypointense mass that has replaced the normal fluid of the right cochlea (arrow).

T1 (Fig. 1) with a high contrast enhancement on T1 postgadolinium images (Fig. 2). The lesion showed sharply delineated edges on enhanced T1-weighted images and sharply delineated signal intensity loss in the high-intensity intralabyrinthine fluid on heavily T2-weighted images (Fig. 3).

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Brain magnetic resonance imaging (MRI). Axial flair sequence MRI at 2 years (a) and 2 years and 9 months (b): A symmetrical and bilateral high-intensity signal is observed the periventricular and peritrigonal white matter in addition to the posterior arm of the internal capsule (red asterisk) and periphery of the thalamus; the accentuation of the sulci and encephalic cisterns results in diffuse encephalic reduction and compensatory ectasia of the supra and infratentorial ventricular system; the diploe is thickened (red arrow), a finding not observed before, which suggests progressive cerebral atrophy (b). Axial T2-weighted imaging at 2 years and 9 months (c) demonstrating symmetric focus with the same CSF sign in the two images in bilateral frontal white matter, suggesting enlargement of Virchow-Robin spaces, although lesion of cystic degeneration or encephalomalacia cannot be excluded. Axial T2-weighted imaging at ages 2 years (d) 2 years and 9 months (e), and coronal T2-weighted sequences at 2 years and 9 months of age (f): note the symmetrical high-intensity signal in the cerebellar hemispheres. Axial T2-weighted sequence at 2 years of age (g) and axial and sagittal T2-weighted imaging at age 2 years and 9 months (h,i): note the bilateral and symmetrical high-intensity signal of the substantia nigra of the cerebellar peduncle, mesencephalic segment, posterior region of the bridge, superior cerebellar peduncle and medulla oblongata.

The electroencephalography suggested parieto-occipital epileptiform discharges, and brain magnetic resonance imaging (MRI) showed bilateral high intensity T2/Flair foci in the periventricular and peritrigonal white matter, internal capsule of the posterior limb and thalamus periphery; additionally, hyperintensities were observed in the cerebral peduncle, midbrain tegmentum, dorsal pons, and medulla oblongata, with a few areas of restricted diffusion, which is typical for mitochondrial disorders (Figure 1).

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Protein structure and distribution of variants in the C12orf65 gene. The yellow boxes represent the variants described in patients with mild phenotypes, the red boxes the variants in patients with severe phenotype, and the green boxes the variants in patients in whom it was not possible to classify disease severity based on the available clinical information. If just one variant is associated with one patient it was found in the homozygous state; two variants linked to one patient indicates compound heterozygosis. Patients are numbered as in .

The severity of this phenotype can be explained by the variant found, which affects an important functional protein domain (Figure 2). The variants linked to severe phenotypes were more likely to affect the GCQ domain of the protein, although they could impact other protein domains (Figure 2).

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Computed tomography and scanning electron microscopic (SEM) images. Contrast-enhanced computed tomography showing a thrombus at the trifurcation of right pulmonary artery (a). Representative SEM images of the removed parts of the thrombus from the right atrium (b and e), lobar pulmonary artery (c and f) and segmental artery (d and g). b-d magnification, x1,000; e-g magnification, x3,500. Scale bar 5 mum

Contrast-enhanced computed tomography revealed large emboli at the right pulmonary artery (PA) trifurcation and in the left PA (Fig. 1a). The microscopic analysis revealed that the atrial thrombus was mainly composed of erythrocytes with few platelet aggregates, and some white cells (Fig. 1b, e). In the thrombi removed from lobar (Fig. 1c, f) and segmental pulmonary arteries (Fig. 1d, g), a stepwise increase in relatively dense fibrin and platelet aggregates was observed. There was a noticeable decrease in the count of erythrocytes and increase in the count of white cells in the thrombotic material removed from lobar and segmental arteries, as compared with the atrial thrombus (Fig. 1).

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Course of treatment in Case 2 (identical to Case A in Figure 2). FBT, frozen-thawed blastocyst transfer; LVFX, levofloxacin

She had a successful ongoing pregnancy in her next FBT (Figure 6).

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Course of treatment in Case 3 (identical to Case D in Figure 2). CFDN, cefdinir; DOXY, doxycycline; FBT, frozen-thawed blastocyst transfer; LVFX, levofloxacin; OPU, oocyte pickup

She had a successful ongoing pregnancy in her next FBT (Figure 7).

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A. Diffuse sclerotic hypochromic plaques on the face with alopecia. B. Detail of the dyschromic alte rations, exulcerated lesion on the forehead, alopecia of the eyebrows and temporal margins

There were exulcerations and hypochromic sclerotic plaques on the face, cervical region, upper, and lower limbs, as well as areas of frontal, temporal, and occipital alopecia (Figures 1 and 2).

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A. Sclerotic hypochromic plaques in the upper limbs. B. Detail of dyschromic sclerotic plaque, desquamation, and exulcerated lesion on the back of the hand

There were exulcerations and hypochromic sclerotic plaques on the face, cervical region, upper, and lower limbs, as well as areas of frontal, temporal, and occipital alopecia (Figures 1 and 2).

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Ultrasound of the fetus revealed a solid mass in the anterior aspect of the neck

A 26-years-old second gravida female reported at 37th week with antenatal ultrasound of the fetus showing well-defined and hyperechoic solid mass of size of 5.5 x 6 centimeters in the anterior aspect of neck [Figure 1].

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A giant solitary mass seen in the neck

On local examination, there was a neck mass which was solitary, oval, of size about 9 x 5 x 6 cms in midline anteriorly having firm consistency with moderate mobility in all the directions [Figure 2].

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Computed tomographic showed a heterogeneous mass with nodular calcification extending superiorly into submandibular and inferiorly up to supraclavicular region

CT showed the mass to be of size 8 x 6 x 5 cms and heterogeneous with scattered, nodular calcification extending superiorly into sub-mandibular and inferiorly up to supraclavicular region [Figure 3].

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Immunohistochemical reactions. A - Most vessels showing positivity for CD34; B - Some vessels were highlighted by alpha-SMA; C - Focal positivity for D2-40. (DAB stain, 10X).

Most vessels were CD34 positive; some were highlighted by alpha-SMA, whereas D2-40 was focal (Figure 2A-C).

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(a and b) Computed tomography revealing thalamic hemorrhage. (c) Anterior-posterior and (d) lateral angiography of the right internal carotid artery before bypass surgery showing Suzuki grade 4 moyamoya disease. (e) Anterior-posterior and (f) lateral angiography of the right vertebral artery demonstrating development of the thalamic channel.

Computed tomography revealed right thalamic hemorrhage with ventricular hemorrhage [Figures 1a and b]. Digital subtraction angiography (DSA) showed MMD (Suzuki grade 4) development of the thalamic channel with hemorrhage in the ipsilateral hemisphere [Figures 1c-f].

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(a) Anterior-posterior angiography before revascularization surgery. (b) Lateral angiography of the right external carotid artery at 3 months after revascularization surgery. The angiogram shows a pseudoaneurysm (arrowheads, b) at the middle meningeal artery (arrows, a and b). The diameter of the middle meningeal artery at 6 months after the superficial temporal artery-to-middle cerebral artery (STAMCA) bypass and encephalo-duro-myo-arterio-pericranio-synangiosis (EDMAPS) was larger than that before surgery. (c) Fusion image of computed tomography and right external carotid artery angiography. The pseudoaneurysm is located at the edge of the craniotomy (black arrow). (d) Intraoperative photo of STA-MCA bypass and EDMAPS. The arrow is location of pseudoaneurysm hereafter.

In addition, a pseudoaneurysm was observed in the right posterior branch of the MMA [Figures 2a and b]. The pseudoaneurysm was located immediately under the edge of the craniotomy site [Figure 2c]. Figure 2d demonstrated the intraoperative photo of STAMCA bypass and EDMAPS on ipsilateral hemisphere of pseudoaneurysm development.

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(a) Right middle meningeal artery (MMA) angiography shows the indirect bypass to the parietal and occipital lobe. The pseudoaneurysm is located at the posterior branch of the MMA (black arrow). (b) The working angle of coil embolization. The aneurysm size is 4.2 mm x 3.9 mm and neck length is 1.1 mm (black arrow) (c) Intra-aneurysmal embolization using platinum coils. (d) Post-embolization angiography of the MMA reveals patency of the posterior branch of the MMA. (e and f) Follow-up angiography at 1 month after pseudoaneurysm embolization. Complete occlusion of the aneurysm and patency of the middle meningeal artery is observed.

Medical Products, Japan) and microcatheter (Echelon-10, Medtronic, USA) were navigated into the right MMA. Microangiography of the posterior trunk of MMA revealed transdural anastomosis by indirect bypass [Figure 3a]. The aneurysm size was 4.2 mm x 3.9 mm and neck length was 1.1 mm [Figure 3b]. The microcatheter was navigated into the pseudoaneurysm, and the pseudoaneurysm was embolized using five platinum coils (Optima Coil System , BALT, USA) [Figure 3c]. Angiography after embolization showed complete occlusion of the pseudoaneurysm, patency of the MMA, and transdural anastomosis [Figure 3d]. Follow-up DSA performed 1 month after the endovascular treatment showed no recanalization of the pseudoaneurysm [Figures 3e and f].

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The occupational processes and tools at workplace. A. The charcoal recycler. B. The on/off button of the charcoal recycler. C. Handling the charcoal bowl. D. Moving the charcoal to the grid pan. E. After a fire is started in the charcoal with the grid pan, the burning charcoal is moved from the pan to the bowl. F. Placing and stirring the burning charcoal beneath the duct for aeration. G. Moving the charcoal bowl to a metal container for delivery to tables.

At Korean barbecue grill restaurant, he worked at the charcoal recycler (Figure 1), which was located outside of the restaurant, and his job was to ignite fresh charcoal or revive the flames of burning charcoal to be placed on customers' tables in the restaurant.

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(A and B) The images show multiple, superficial, noninfected scrotal ulcers.

Genitourinary examination revealed bilateral craggy, hard epididymes, an enlarged and tender right testis, and multiple, superficial, noninfected scrotal ulcers (Fig. 1A and B).

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(A and B) Intraoperative findings: enlarged right epididymis which was irregular and thickened with mild enlargement of the right testis with an irregular surface lesion, favoring chronic epididymo-orchitis.

He underwent surgical exploration where the right epididymis was noted to be enlarged, irregular, and thickened with mild enlargement of the right testis with an irregular surface lesion, favoring chronic epididymo-orchitis (Fig. 2A and B).

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Chest X-Ray and chest CT scans of neonate.. (A): Chest X-Ray images of neonate, 29 February 2020. (B): Chest CT images of neonate who diagnosed with COVID-19 infection, 29 February 2020. (C): Chest CT images of neonate after treatment, 4 march 2020.

The chest x-ray (Fig. 1A) and HRCT-Scan without contrast (Fig. 1B) were performed from the infant's chest on 29 February 2020. After admission and starting the treatment, the neonate's fever was abated and repeat chest CT-Scan show there was a lower alveolar consolidation on the sixth day of hospitalization (March 4, 2020), but there was still consolidation in the middle lobe of the right lung (Fig. 1C).

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Facials features of the patient. Our patient expressed the typical facial phenotype comprising epicanthus, midface hypoplasia, flat nasal bridge, small triangular nose with anteverted nostrils, carp-shaped mouth with full lips, and dental diastema at age 6 months (A) and 3 yr (B).

He had a flat and mid-hypoplastic face with prognathism, narrow and upward slanting palpebral fissures with hypertelorism, low-set ears, a small crashed nose, widely spaced incisors, carp-like mouth, and round back (Fig. 1).

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Photomicrograph of the peripheral blood of our case with ATR-X syndrome. It shows cells containing HbH inclusions in our patient (A), and also his mother (B) and eldest sister (C).

H (HbH) inclusion bodies. HbH inclusions were detected under the microscope in 1.1% of brilliant cresyl blue stained RBCs, consistent with the diagnosis of ATR-X syndrome (Fig. 2).

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CT-scan showed a low-density mass near the bladder neck and a large number of blood clots in the bladder.

A computed tomography (CT) scan of the abdomen and pelvis showed a mass near the bladder neck and massive blood clots in the bladder (Fig. 1).

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Angiographic results before (a) and after vascular embolization (b).

Aiming to wait for hematuria to be controlled and then re-cystoscopy before we can perform the treatment, we consulted the interventional department for bladder tumor vascular embolization (Surgery related images shown in Fig. 2) in the hope of controlling bleeding.

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Changes in hemoglobin since admission to hospital.

To elaborate the change of hemoglobin in patient more intuitively, we specially created a line chart (Fig. 3).

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Brain magnetic resonance imaging on day 2 demonstrated a round lesion with high intensity on diffusion weighted image (right panel, white arrow) and low intensity in apparent diffusion coefficient (left panel, black arrow) in the splenium of the corpus callosum.

Brain magnetic resonance imaging (MRI) was performed on the second hospital day; a splenium of the corpus callosum lesion appeared with high intensity on diffusion weighted image (Fig. 2).

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Ground-glass view in lung computed tomography showing positive for COVID-19

Spiral multislices showed diffuse bilateral ground-glass opacity and crazy paving opacity with peripheral and peribronchovascular distribution, a pattern highly suggestive of COVID-19-associated pneumonia [Figure 1].

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Peripheral blood showing schistocytes, characteristic of microangiopathic hemolytic anemia

The peripheral blood smear showed schistocytes 3% [Figure 2] without platelet aggregation, suggesting TTP.

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Abdominal macroscopic findings of the patient.

An elastic, hard mass was palpable in his right abdomen on physical examination (Fig. 1).

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a,b: Abdominal magnetic resonance imaging (T2weighted) showing a large solid tumor approximately 100 mm in diameter protruding into the abdominal cavity from the right hepatic lobe.

Abdominal magnetic resonance imaging revealed a large solid tumor, with a heterogeneous interior on T2-weighted images, approximately 100 mm in diameter, protruding into the abdominal cavity from the right hepatic lobe (Fig. 2).

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Chest computed tomography showing parenchymal nodules suspicious for metastases in both lungs.

Chest computed tomography (CT) revealed parenchymal nodules considered to be metastases in both lobes of the lungs (Fig. 3).

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The rupture site on the left side of the tumor.

During the surgery, the left margin of the tumor ruptured and the tumor contents leaked into the abdominal cavity (Fig. 4).

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Findings of complete removal of tumor protruding from segments 5,6.

Therefore, we performed a partial resection of the liver (segments 5 and 6) along the boundary between the tumor and the healthy liver (Fig. 5).

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Chemotherapy treatment course (modified SIOPEL-4 regimen) and AFP trends.

The patient received six courses of chemotherapy (modified SIOPEL-4 regimen) in the pediatric department (Fig. 6).

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Right groin showing multiple excavating ulcers, left groin shows 'Groove sign of Greenblatt' and multiple tense bullae with erosions over thighs and penile shaft

Examination of the left inguinal region also revealed enlarged, grouped, tender inguinal nodes of size 8 x 6 cm present both above and below the inguinal ligament giving the appearance of "Groove sign of Greenblatt" [Figure 1]. Multiple tense bullae filled with clear fluid and erosions were present over upper limbs, lower limbs [Figure 1], and trunk.

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(Case presentation, initial and intraoperative findings according to the first procedure): (A) Clinical photograph of both forearms showing left (arrow) complete loss of wrist and thumb's extension and incomplete loss of extension in MCP joints II-V; (B) MRI demonstrating the monstrous GL (arrows) which surrounds the proximal radius shaft approximately a half part of its total circumference; (C) Clinical photograph showing the radial nerve (white arrow) which was fixed to the capsule of the GL (blue arrows); (D) Clinical photograph after monobloc removal of the entire GL and careful dissection of the radial nerve showing the overstretching-related partial disruption of the nerve with a gap of 1 cm involving a half part of its overall circumference (arrow).

The strength of extension of the wrist and thumb's extension and abduction was completely lost according to grade 0 in Medical Research Council (MRC) scale (0-5), and the extension in the metacarpophalangeal (MP) joints II-V showed palsy grade 3 in MRC scale (Fig. 1A). MRI revealed a submuscular, clearly demarcated and encapsulated tumor with a homogeneous and high-intensity signal similar to subcutaneous fat which surrounds the proximal radius shaft approximately a half part of its total circumference, and without visible septae inside the tumor after gadolinium injection (Fig. 1B). The radial nerve was carefully dissected, it was fixed to the capsule of the GL (Fig. 1C). After that, an overstretching-related partial disruption of the nerve with a gap of 1 cm involving a half part of its overall circumference was visible (Fig. 1D).

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(Case presentation, 10-months follow-up): (A) Clinical photographs of both forearms showing left (arrow) good restoration of wrist and long fingers II-V extension; (B) Clinical photograph showing powerful object grasp; (C) Clinical photographs of both forearms showing left (arrows) complete restoration of thumb's extension and abduction, and sufficient thumb's circumduction with a powerful tip-to-tip pinch to the fifth finger.

At the 10-months follow-up, strength of wrist extension, thumb's extension and abduction, and long fingers II-V extension had all improved to grade 4 in MRC scale that was accompanied with a sufficient circumduction of the thumb (Figs. 3A-C).

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Blood smear (May-Grunwald-Giemsa x1000). Arrow indicates inclusion bodies on erythrocyte surface

An EDTA-anticoagulated blood sample taken on admission revealed a markedly regenerative, severe (haematocrit 9.9 %; ref: 24-46 %) macrocytic anaemia with spherocytes and basophilic stippling present on the blood smear (Figs. 1 and 2) (Table 1).

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Spleen cut surface - the red pulp has a diffuse brick red to brownish discolouration and there is an increased prominence of lymphoid follicles in the white pulp (arrows)

Post mortem examination showed mild hepatomegaly, mild enlargement of the spleen with prominent lymphoid follicles within the white pulp (Fig. 3) and mild lymphadenomegaly of the right pre-scapular lymph node.

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H&E section of lymph node showing EMH (this is an unusual location to find EMH). Both megakaryocytes (arrows) and nucleated erythroid precursors (arrowheads can be seen in clusters within the medullary cords

Numerous aggregates of nucleated erythroid precursors and variable numbers of megakaryocytes were noted in the medullary cords (Fig. 4).

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H&E section of liver showing yellowish-brownish granules in the Kupffer cells

Increased intracytoplasmic accumulation of haemosiderin (confirmed by Perl's Prussian Blue staining) was also noted in Kupffer cells in hepatic sinusoids (Figs. 5 and 6).

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Perl's Prussian Blue staining showing haemosiderin pigments in the Kupffer cells (detected as a blue stain within Kupffer cells)

Increased intracytoplasmic accumulation of haemosiderin (confirmed by Perl's Prussian Blue staining) was also noted in Kupffer cells in hepatic sinusoids (Figs. 5 and 6).

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Endoscopy demonstrating a subepithelial mass with overlying ulceration and an adherent clot in the duodenal bulb.

Upper endoscopy demonstrated a subepithelial mass with an overlying ulceration and an adherent clot in the duodenal bulb, with no histological evidence of a malignancy (Figure 1).

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Computed tomography of the subepithelial duodenal mass (vertical arrows) showing air in the gallbladder (horizontal arrow).

Computed tomography (CT) obtained during the initial hospitalization demonstrated air within an inflamed gallbladder that contained stones and sludge, as well as a rounded, well-circumscribed mass in the duodenum (Figure 2).

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Endoscopy demonstrating a mass-like lesion with a small orifice draining bile and small stones.

During suction to appose the lesion against the tip of the echoendoscope, the mass decompressed, and the areas of ulceration morphed into 2 small orifices draining bile and small stones (Video 1; Figure 3).

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(A) Magnetic resonance imaging demonstrating the resolution of the mass-like density in the duodenum (arrows) and (B) the presence of choledocholithiasis along with the cholecystoenteric fistula.

Subsequent magnetic resonance imaging demonstrated resolution of the mass-like density in the duodenum (Figure 4). A small bile duct stone and subtle contrast opacification of the cholecystoduodenal fistula was also identified (Figure 4).

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Follow-up endoscopy demonstrating decompression of the lesion with persistence of the fistula orifice.

Subsequent endoscopy to assess healing demonstrated the persistence of the fistula orifice and clear decompression of the mass lesion (Figure 5).

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Chest x-ray, prior to commencing treatment.

HRCT evidence of progressive bronchiectasis (see Figures 1, 2), growth and development was excellent (Weight and height 64th centile) with baseline FEV1 3.8 l (93.9%). He had previously cultured Staphylococcus aureus (SA) and PsA (non-mucoid) and had one admission in the previous 12 months, requiring a pulmonary optimization with intravenous Piptazobactam and Tobramycin following a period of wet cough and decline in lung function.

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High resolution CT chest with contrast. Generalized bronchiectasis demonstrated.

HRCT evidence of progressive bronchiectasis (see Figures 1, 2), growth and development was excellent (Weight and height 64th centile) with baseline FEV1 3.8 l (93.9%). He had previously cultured Staphylococcus aureus (SA) and PsA (non-mucoid) and had one admission in the previous 12 months, requiring a pulmonary optimization with intravenous Piptazobactam and Tobramycin following a period of wet cough and decline in lung function.

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MRI, coronal section of right ankle, T1 weighted image.

He was referred to an orthopedic specialist in a near-by provincial center where an MRI identified a suspected tumor in his distal tibia (see Figure 3).

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AP x-ray of right lower leg, cannulated screws transfix the fibular bone graft to the distal right tibial diaphysis.

Four months after diagnosis he underwent distal tibial resection and free fibula flap reconstruction (see Figure 4) which he recovered well from, requiring repeat bone graft to the right tibia 6 months later.

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Percentage of predicted FEV1 at baseline, diagnosis, during chemotherapy and 12 months following completion.

Pulmonary function improved during his treatment from baseline (see Figure 5) with FEV1 4.15 l (102.3% predicted) whilst nutritional status remained stable with weight 64.1 kg (62nd centile).

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Patch test results (after 48 h): A) positive reaction to para-aminosalicylic acid; B) positive reaction to prothionamide

Table 1 and Figure 3. Treatment was adjusted to ethambutol, kanamycin, cycloserine, pyrazinamide, and linezolid, and no new symptoms were observed.

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(A) The patient's preoperative urine cytologic testing results, suggesting urothelial carcinoma. (B, C) Preoperative CTU of the patient.

A urine culture revealed Streptococcus agalactiae, and the results of urine cytologic testing suggested that the transitional cell carcinoma was arranged in a papillary structure with mild-moderate heterogeneity of cells, and urothelial carcinoma was considered ( Figure 1A ). CTU showed a filling defect in the lower right ureter with right hydronephrosis ( Figures 1B, C , arrow).

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Schematic diagram of total intracorporeal laparoscopic kidney autotransplantation. (A) The tumor was located in the distal right ureter. (B) The right middle ureter was clamped using a hem-o-lock clip. (C) Bladder cuff excision. (D, E) The right renal artery and vein were fully clamped and disconnected, respectively, and the right vena cava was sutured. (F, G) Reconstruction of the vascular system after right kidney transplantation. (H) Reconstruction of the urinary tract system. (I) Kidney after transplantation.

The right middle ureter was clamped using a hem-o-lock clip ( Figures 2A, B ), the right ureter-bladder was cuffed and resected, and the cystotomy incision was sutured ( Figure 2C ). The right renal artery and vein were fully clamped and disconnected, respectively, and the right vena cava was sutured ( Figures 2D, E ). The right kidney and right ureter were quickly removed through an incision of approximately 7 cm in length in the right iliac fossa. The right internal iliac vein was clamped at both ends by bulldog clips, and the right vein was reconstructed end-to-end with the right internal iliac vein ( Figure 2F ). Similarly, the right artery was reconstructed end-to-end with the right internal iliac artery ( Figure 2G ). Then, the right ureter was reconstructed end-to-end with the right posterior wall of the bladder ( Figure 2H ), and finally, the right internal iliac vein and arterial hobgoblin were released to restore blood flow to the right kidney, which was rich in vitality ( Figure 2I ).

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Patient timeline. CTU, computed tomography urography; LS, Lynch syndrome; BCG, Bacillus Calmette-Guerin.

The postoperative cosmetic results were satisfactory ( Figure 3C ), and the patient is still undergoing close follow-up ( Figure 4 ).

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