Imaging of patient with germline BAP1 mutation. A. Retinal examination revealed a melanocytic tumor with irregular margins involving the majority of the retina.


Imaging of patient with germline BAP1 mutation. B. CT of the abdomen prior to surgery identified a 32 mm lobulated lesion in segment 4B of the liver as indicated by the arrow.


Pedigree of the patient's family with a BAP1 germline mutation. Black Squares indicate a diagnosis of malignant mesothelioma. Arrow indicates the presence of BAP1 mutation as determined by sequencing studies. Two of the patient's children passed away with renal cell carcinoma (RCC) and acute lymphocytic leukaemia (ALL).


A portion of the electroencephalogram report is shown. Note the presence of background alpha activity and rapid rhythms on frontocentral regions, bilaterally.


An Axial fluid-attenuated inversion recovery image obtained by magnetic resonance imaging (MRI) is reported. Note the moderate lesions in the frontal subcortical white matter and in semi oval centres of both sides.


(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.


(a) Sagittal T1-W MRI without contrast injection, before the first surgery. An extradural hyposignal lesion is observed at S1-S3 level, which was neglected in the first intervention.


(b) Sagittal T1 MRI with contrast from the lumbosacral region after the first operation. Homogenous enhancement of the lesion is observed.


(c and d) Axial T1 MRI views of the lesion with and without contrast, after the first operation.


(a) Axial T2-weighted images at the level of mid-brain shows median cleft, which is seen separating the cerebellar hemispheres and communicating with fourth ventricle, producing the typical bat wing (open umbrella) (solid arrow) appearance.


(b) Axial T2-weighted image at the pontomesencephalic junction shows the typical molar tooth appearance (solid arrow) with prominent superior cerebellar peduncles.


(c) Sagittal T1-weighted image shows absence of primary fissure and a vermin aplasia superiorly (solid arrow).


Macroglossia and elfin features.


Marked acanthosis nigricans and hirsutism, distended abdomen.


Rough skin (upper extermities).


Rough skin (lower extremities).


Crowding of teeth, hyperplastic gingiva.


Postoperative picture, extraction of the offending teeth.


Chest and upper abdomen radiography showing dextrocardia, normal lungs fields and the stomach bubble under the right diaphragm.


Chest computed tomography showing dextrocardia, with no radiographic evidence of bronchiectasis.


Computed tomography scan of the abdomen showing liver on the left and spleen on the right.


Macroscopic image of the umbilical fossa. An induration of 15 x 10 mm in size that accompanied redness was present (arrows).


Skin tissue biopsy image of the umbilical fossa. Irregularly shaped nuclei of atypical cells with a nucleolus indicate poorly differentiated adenocarcinoma. Original magnification x200.


Upper gastrointestinal endoscopic image. Borrmann type IV advanced gastric cancer was present in the anterior wall of the gastric corpus.


Tissue biopsy image of Borrmann type IV advanced gastric cancer. In the histopathological biopsy of gastric cancer, poorly differentiated adenocarcinoma, which was similar to an umbilical mass, was detected. Original magnification x200.


Staging CT showing bilateral renal masses, pancreatic cysts and multiple lung metastases.


Chest X-ray showing multiple nodular lesions in both lungs.


Computerized tomography of the brain showing a hyperdense lesion (arrow) in the right posterior parietal lobe.


Electrocardiograms before and after admission. . Notes: (A) An electrocardiogram shows bradycardia with Mobitz type II second-degree atrioventricular block and complete left bundle branch block 1 month before admission.


Electrocardiograms before and after admission. (B) An electrocardiogram shows third-degree atrioventricular block on admission.


An electrocardiogram shows biventricular pacing after CRT-D implantation. . Abbreviation: CRT-D, cardiac resynchronization therapy-defibrillator.


Color fundus photographs.


Optical coherence tomography images. At initial visit. Fundus photographs show annular choroidal detachment and serous retinal detachment in both eyes. Optical coherence tomography images show a wavy retinal pigment epithelium and thick choroid in both eyes. Fluorescein angiography and indocyanine green angiography findings.


Early-phase fluorescein angiogram of right eye (e) shows dye leakage from retinal pigment epithelium.


Late-phase fluorescein angiogram (f) shows slightly increased dye leakage. Dye pooling is not seen.


Early- and late-phase indocyanine green angiograms (g and h, respectively) of right eye show focal hypoperfusion areas. Similar changes were seen in the left eye.


Optical coherence tomography images. At 70 days after initial treatment. Fundus color photographs show resolved annular choroidal detachment and serous retinal detachment in both eyes. Optical coherence tomography images show resolved serous retinal detachment.


Midline rudimentary uterus (black arrow) with fallopian tube on both sides. Both gonad at the two ends, vas can be identified (indicated by forceps tip) along the vascular pedicle. Line diagram (inset) showing the anatomical details of the case. (u = uterus, v = vagina, F. T. = fallopian tube, T = testis, dotted line showing vas deferens).


Excised uterus (blue arrow) along with the bilateral fallopian tube. Both testis separated (black arrows) from the Mullerian remnants.


Distal most part of the rudimentary vagina, the vaginal cavity opened (black arrow) to remove the mucosa.


Microscopic view of blood.


Ulcers in buccal mucosa.


Blood in oral cavity.


Preoperative and postoperative CT. The preoperative head CT showed intraventricular hemorrhage in the lateral ventricles.


Preoperative and postoperative CT. , third ventricle.


Preoperative and postoperative CT.fourth ventricle.


Preoperative and postoperative CT. The postoperative head CT taken during the patient's acute respiratory failure and shortness of breath excluded an intracranial re-hemorrhage in the lateral ventricles.


Photographs of the right.


Left. Eyes.


Fundus autofluorescent (FAF) images of the right.


Left. Eyes are also shown. The FAF image shows a hypofluorescent lesion in the foveal and perifoveal areas consistent with bull's eye retinopathy. A prominent hypofluorescent lesion is visible in the left eye, indicating a marked atrophy of the retinal pigment epithelium layer. The bull's eye pattern of depigmentation is also evident on fundus photography and fundus autofluorescent images.


Adaptive optics scanning laser ophthalmoscope (AO-SLO) montage . The vertical SD-OCT images from both the right.


Adaptive optics scanning laser ophthalmoscope (AO-SLO) montage . Left. Eyes show loss of photoreceptor inner segment/outer segment junctions (moth eaten appearance).


Spectral-domain optical coherence tomography (SD-OCT). Images of both eyes.


Adaptive optics scanning laser ophthalmoscope (AO-SLO) montage from the left eye (A) matched with the corresponding red free image.


Magnified AO-SLO images (B,C) are also shown. (B) shows the area indicated by the white box on the montage. As shown in (B), disruptions in the cone mosaic, where cones were missing or lost, is apparent. These disruptions were not present in the normal subject. Additionally, in (B), cones appear to be asymmetrical in shape and size with variable brightness. Scale bar in.


Magnified AO-SLO images (B,C) are also shown. For comparison, (C) shows an age-matched normal retina in the same location. = 25 microm.


Correlation of structural and functional defects. Humphrey visual field (A) revealed a significant central defect.


Correlation of structural and functional defects. The adaptive optics scanning laser ophthalmoscope (AO-SLO) montage from the right eye (B) was matched with the infrared image.


Correlation of structural and functional defects. Images ,. The AO-SLO images ,. Cones in images ,. Scale bar in.


Correlation of structural and functional defects.


Correlation of structural and functional defects. Are magnified AO-SLO images of the locations of visual field defects (white boxes). , show the cone mosaic disruption and dark patchy lesions where cones are missing or lost. Were asymmetric in shape and size and exhibited variable brightness. = 25 microm. SR = superior retina; IR = inferior retina; NR = nasal retina.


Correlation of structural and functional defects. Images ,. Image D had the lowest cone density, and was lower than observed in a normal subject (F,G,H).


Correlation of structural and functional defects. Image D had the lowest cone density, and was lower than observed in a normal subject (F,G,H).


Correlation of structural and functional defects. Are images in the same location from an age-matched normal retina. The location and cone density for each figure is shown. Image D had the lowest cone density, and was lower than observed in a normal subject (F,G,H).


Chest X-ray showing right lung lower lobe consolidation.


Mesial temporal sclerosis. Coronal brain MRI T2 sequence.


Mesial temporal sclerosis. FLAIR sequence. Showing left hippocampal atrophy and high signal intensity.


Non-enhanced MRI image (T1) showing a large pituitary gland mainly due to an enlarged adenohypophysis.


Neonatal tooth erupting from the lower gum at one month.


Ulceration at the ventral aspect of the tongue (Riga Fide disease) at one month.


Appearance of oral cavity 10 months after extraction.


Pedigree of the Chinese family segregating Woodhouse-Sakati syndrome (WSS) in an autosomal recessive manner. Male individuals are represented by squares, and females are represented by circles. Half-filled symbols represent a DCAF17 heterozygous mutation, while filled symbols represent a DCAF17 homozygous mutation. The third child of the patient's parents died at 7 mo and his genetic analyses could not be investigated.


Pituitary MRI of the patient. T2-weighted MR imaging for the patient showed a partially empty sella and a small pituitary gland (arrow).


Pituitary MRI of the patient. ; Magnetic sensitivity weighted imaging showed no abnormal iron deposition accumulation.


Sanger sequencing showed that the patient's.


(Ile371Term), while their father.


Mother. Were heterozygous for this mutation at this site.


Her younger brother's
DCAF17 harbored a homozygous mutation c.1111delA, p.


Intrasellar and suprasellar expansive lesion with haemorrhage.


Hair loss.


Dysmorphic changes of nails.


Slit-lamp color photographs at presentation 11 months after phacoemulsification. . Notes: (A) Healed temporal corneal incision wound, with stromal edema nasal to this site and extending centrally through the visual axis. Note the anterior corneal incision.


Slit-lamp color photographs at presentation 11 months after phacoemulsification. (B) Descemet's membrane dehiscence at the site of clear cornea cataract incision.


Slit-lamp color photographs 18 months after phacoemulsification. . Notes: (A) Persistent microcystic stromal edema extending centrally from the healed temporal corneal incision wound.


Slit-lamp color photographs 18 months after phacoemulsification. (B) Descemet's membrane tear and detachment at the site of the surgical wound.


Histopathologic photomicrographs. . Notes: (A) Histologic examination demonstrates Descemet's membrane (arrows) detached from the edematous corneal stroma. The asterisk shows disruption in Descemet's membrane (hematoxylin and eosin, original magnification 40x).


Histopathologic photomicrographs. (B) Arrows denote Descemet's membrane detachment (hematoxylin and eosin, original magnification 100x).


Involvement of muscles of left upper limb in Hirayama's disease.


Coarse facies.


Multiple hypopigmented atrophic macules present linearly and in reticulate grouping on the trunk along the lines of blaschko.


Multiple hypopigmented atrophic macules on the lower limbs along the lines of blaschko.


Syndactyly of left foot and ectrodactyly of right foot with changes in nails.


Presence of supernumerary nipples.


Postoperative (day 2) photograph showing inversion of Bell's phenomenon in both eyes following right frontalis sling-suspension surgery.


Absence of heterozygosity was noted on chromosome 14 (80%) in cord blood from the fetus.


The result of the UPDtool in parent-child triols in this case of upd(14)pat using single-nucleotide polymorphism (SNP) microarray.


Photograph of the induced fetus.


Tonic clonic seizures beginning in the occipital region 7 min after IPS. X5, outer eyelid; X6, upper eyelid. SEN: 15 muV; HF: 70; TC: 0.03.


There was no epileptic discharge in VEEG 10 min after the administration of midazolam, and the background rhythm was about 8 Hz. X5, outer eyelid; X6, upper eyelid. SEN: 10 muV; HF: 70; TC: 0.1.


Magnetic resonance imaging of the patient. (A and B) Gadolinium (Gd)-enhanced T1-weighted image of cerebellum when the patient was 26 years old. The patient had multiple cerebellar hemangioblastomas.


Magnetic resonance imaging of the patient. (C) Gd-enhanced T1-weighted image of the lower thoracic cord. A small hemangioblatoma with a syrinx is shown.


Magnetic resonance imaging of the patient. (D) T2-weighted image of the lower thoracic cord.


Magnetic resonance imaging of the patient. (E) T1-weighted image of the abdomen. A renal cyst and multiple pancreatic cysts are shown.


Optic fundi before radiosurgery. (A) Left healthy side.


Optic fundi before radiosurgery. (B) Right lesion side.


Magnetic resonance images before radiosurgery. (A) Gadolinium (Gd)-enhanced T1-weighted image, sagittal.


Magnetic resonance images before radiosurgery. (B) Gd-enhanced T1-weighted image, axial.


Magnetic resonance images before radiosurgery. (C) Gd-enhanced T1-weighted image, coronal. Yellow arrows show the tumor.


Magnetic resonance images before radiosurgery. (D) Three-dimensional planning MRI for radiosurgery. The light blue color indicates the tumor enveloping the optic nerve.


Gadolinium-enhanced magnetic resonance images at 18 months after the stereotactic radiosurgery. (A) Sagittal image.


Gadolinium-enhanced magnetic resonance images at 18 months after the stereotactic radiosurgery. (B) Axial image.


Gadolinium-enhanced magnetic resonance images at 18 months after the stereotactic radiosurgery. (C) Coronal image.


Two-dimensional transthoracic echocardiogram in apical four-chamber view showing a 27 mm atrial septal defect (horizontal arrow) and stenotic mitral valve (vertical arrow).


Inoue balloon positioned in the left ventricular cavity over the Inoue wire before mitral valvuloplasty.


Transesophageal echocardiography showing malpositioned Amplatzer device into the right atrial cavity.


Lateral projection showing successful final deployment of a 36 mm Heartr. atrial septal occluder device.


Thyroid nodule composed of follicular cells and colloid (H&E.


Positive IHC staining for Tg.


Palm view: pronounced thenar atrophy of the right hand.


Dorsal view of both hands: pronounced thenar atrophy of the right hand.


Intraoperative photograph and sagittal and axial magnetic resonance images obtained 3 months postoperatively. (A) A small breach in the dura mater (white arrow) was seen after the removal of the nucleus pulposus. There was minimal cerebral spinal fluid leakage.


Intraoperative photograph and sagittal and axial magnetic resonance images obtained 3 months postoperatively. T1-weighted.


Intraoperative photograph and sagittal and axial magnetic resonance images obtained 3 months postoperatively. T2 weighted. MR images reveal satisfactory segmental decompression and no compression of the dural sac (whitarrow).


Preoperative and postoperative follow-up radiographs; (A) lateral radiograph of the cervical spine shows absence of the physiological curvature, with degenerative changes in the cervical vertebrae.


(B) Radiograph obtained 3 days after surgery shows partial restoration of the cervical curvature.


(C) Radiograph obtained 3 months after surgery shows no displacement of internal fixation.


(D) Radiograph obtained 1 year after surgery shows stable internal fixation.


Coronal maximum intensity projection image obtained in the arterial phase shows large, tortuous extrahepatic and intrahepatic arteries (black arrows) and diffuse punctate telangiectasias in the liver parenchyma (white arrowheads). Also note 2 pulmonary arteriovenous malformations in the left upper and right lower lobe (white arrows).


Hepatic lesions in a 36-year-old woman with hereditary hemorrhagic telangiectasia. Three-dimensional volume-rendered arterial phase image shows early opacification of the hepatic veins (white arrows) secondary to arteriovenous shunting. Note the numerous telangiectasias (arrowheads and brace).


Axial arterial.


Hepatic. Phase images show a large arteriovenous shunt in the right lobe (black arrow) and multiple focal nodular hyperplasias (white arrows).


Lesion on perineal area.


Erosions and crusts over the plaque.


Paget's cells in H and E stain x10.


Paget's cells in PAS stain x40.


Pedigree of a family presenting with normokalemic periodic paralysis (NormoKPP). The filled symbols indicate individuals with NormoKPP, whereas the open symbols show individual without NormoKPP. The individuals with asterisks were examined by gene sequencing. The arrow indicates the index case.


A) Hepatic tumor infiltrating head of the pancreas, vena cava inferior and portal vein.


B) Subsequently performed CT revealed regression of the tumor.


C) Tumor infiltrating head of the pancreas, vena cava inferior, portal vein and hepatic artery.


(A) Gastric biopsies taken at time of diagnosis. Numerous pieces from various parts of the stomach show similar features. On low (a - H&E, 2x magnification) and medium (b - H&E, 10x magnification) power views, tortuous hyperplastic glands with occasional mild branching and dilatation are identified. A different field (c - H&E, 10x magnification) demonstrates an area of prominent lamina propria edema with a mixed inflammatory cell infiltrate including eosinophils.


(B) (a - H&E, 5x magnification) (b - H&E, 2x magnification): biopsies of colonic hamartomatous polyps taken a year after diagnosis. The crypts are tortuous, and some are cystically dilated secondary to inspissated mucin. The intervening lamina propria shows an infiltrate of predominantly mononuclear cells, as well as occasional hypertrophic strands of smooth muscle cells. (B) Shows a focus of low-grade dysplasia arising on the background of a hamartomatous polyp.


42-year-old male with fever, chest pain, and fatigue later diagnosed with sarcoidosis. Pre-treatment 18F-FDG PET- CT scan, transaxial fusion image at the level of the upper abdomen shows abnormal uptakes of radiotracer in the liver and spleen (arrows).


42-year-old male with fever, chest pain, and fatigue later diagnosed with sarcoidosis. Photomicrograph of the biopsy sample stained with hematoxylin and eosin shows confluent sarcoid granulomata pattern in thoracic lymph node (arrows). Tissue showed occasional multinuclear giant cells Langhans type, mononuclear phagocytes, and lymphocytes. No necrosis was present (x100).


42-year-old male with fever, chest pain, and fatigue later diagnosed with sarcoidosis. Post treatment total body 18F-FDG PET/CT scan:. CT scan.


42-year-old male with fever, chest pain, and fatigue later diagnosed with sarcoidosis. PET scan.


42-year-old male with fever, chest pain, and fatigue later diagnosed with sarcoidosis. Fusion coronal image.


42-year-old male with fever, chest pain, and fatigue later diagnosed with sarcoidosis. MIP image show a physiological distribution of the radiotracer and the complete disappearance of abnormal uptakes at level of right pulmonary hilum, liver, and spleen (arrows in c).


Delayed uptake of contrast medium in the hepatic parenchyma and massive ascites.


A; Ex vivo liver resection was performed for the liver AE lesion. . 1: left hepatic biliary duct opening. 2: PV opening of segment II. 3: PV opening of segment III. 4: HV opening of segment II. 5: HV opening of segment III.


B; The left PV and outflow of the left HV to the IVC was reconstructed using artificial blood vessel for a wide mouth anastomosis. . 1: left PV. 2: left HV.


A; The left HV was reconstructed to IVC using end-to-side anastomosis. The left-PV and left-HA were reconstructed using end-to-end anastomosis. The left-HB was reconstructed using bilioenterostomy. 1: left HV, 2: left-PV, 3: IVC.


B; The resected specimen.


The CT scan indicated no recurrence, thrombus, liver congestion and cholangiectasis.


Chest X-ray showing dextrocardia with normal lung field.


HRCT thorax showing bronchiectasis in the lingular segment.


X-ray of paranasal sinuses showing bilateral maxillary sinusitis with the absence of both frontal sinuses.


X-ray of the cervical spine showing Hangman's fracture with significant translation and angulation.


MRI (t2 sequence) of the cervical spine revealing presence of pinching effect but no signal changes in the cord.


X-ray spine after traction showing realignment of the posterior and the spino-laminar lines.


CT spine showing projection of screws through lateral mass of C1.


CT spine showing projection of screw through lateral mass of C3.


CT spine reconstruction showing projection and final alignment of the construct.


CT spine showing good reduction of the posterior and the spino-laminar lines and normal canal.


Preop status showing bilateral proptosis (left > right) with widened nasal bridge. Extensive conjunctival chemosis on the left side with exposure kearatitis.


Axial.


Sagittal.


Coronal sections of CT brain contrast study showing well enhancing lesion in basifrontal region extending through the ethmoid sinuses into bilateral nasal cavities, orbits, and maxillary sinuses.


Postop CT scan. Sagittal.


Coronal sections showing no significant residual tumor.


(c) Axial sections at the level of greater wing of sphenoid showing minimal edema of the bilateral basifrontal regions.


Extra oral photograph showing right side facial atrophy.


Intra oral photograph showing edentulous 1st quadrant.


Orthopantomogram showing antegonial notch on right side.


Coronal section of CT showing absence of masseter muscle on right side.


MRI showing absence of parotid and submandibular salivary glands.


Microscopical aspect of liver biopsy: hydropic change of hepatocytes, enlarged portal spaces with interface hepatitis (abundant lymphoplasmacytic inflammatory infiltrate) (HE, x200.


X-ray cervical spine with flexion and extension views revealing of advanced cervical degenerative disc disease at C5-6 and C6-7 with congenital fusion of C7-T1.


MRI cervical spine revealing of advanced cervical degenerative disc disease at C5-6 and C6-7 with congenital fusion of C7-T1.


Final AP and lateral intraoperative fluoroscopic views confirming excellent placement of the cervical disc arthroplasty devices.


One-month postoperative AP and lateral cervical radiographs confirming excellent placement of the cervical disc arthroplasty devices and motion through flexion and extension.


Multiple crusted plaques over trunk.


Multiple crusted plaques over buttocks.


Keratoderma blenorrhagicum - soles.


Circinate balanitis.


Histopathology showing marked hyperkeratosis, focal parakeratosis, with spongiosis, irregular rete ridges and few micro abscesses in the epidermis and predominantly lymphocytic infiltrate in perivascular area in the dermis.


Finger nails showing coarse pitting, yellowish discoloration, transverse ridges and subungual hyperkeratosis.


X-ray hip joint (AP view) showing reduced joint space.


A; Patient prior to orbital decompression.


B; Following decompression surgery, botulinum toxin injection, and eyelid repair for treatment of upper eyelid retraction.


A; Coronal T1-weighted contrast-enhanced MR scan of orbits demonstrates irregular enlargement of the right lacrimal gland.


B; Normal extraconal muscles.


A; Coronal computed tomography of the brain without contrast enhancement at presentation demonstrates normal extraconal muscles.


B; Coronal computed tomography of the brain without contrast enhancement 2 years after presentation demonstrates irregular enlargement of the left inferior rectus.


Biopsy histological features. . Hematoxylin Eosin 400X magnification. Proliferation of neoplastic spindle cells, sparsely forming capillaries with red blood cells inside.


Timeline of clinical events, diagnostic-therapeutic approach, and clinical outcome.


Angioectasia at the hepatic flexure.


Diffuse angioectasias of the ascending colon.


A : Preoperative sagittal T2W TSE MRI showing turbulent flow of CSF in the fourth ventricle and back flow of CSF through the Monro's foramen to the lateral ventricles.


B : Preoperative axial T2 MRI showing significant dilatation of fourth ventricle with turbulent flow of CSF.


C : Preoperative axial T1 MRI showing dilatation of third, fourth and lateral ventricles.


D : Preoperative axial T1 MRI showing significant dilatation of fourth ventricle. CSF : cerebelospinal fluid.


A : Perioperative photo showing the occlusion of Magendie's foramen by the membrane.


B : Perioperative photo showing Magendie's foramen after the incision and removal of the membrane.


A : Postoperative sagittal T1 MRI showing marked decrease in the size of the ventricles.


B : Postoperative coronal T1 MRI showing marked decrease in the size of the ventricles.


C : Postoperative axial T1 MRI showing marked decrease in the size of the ventricles.


Preoperative sagittal.


Axial. T1-weighted magnetic resonance images of the brain with gadolinium contrast demonstrate the presence of an enhancing mass in the right posterior parietal region.


(a and b) Photographs show characteristic features of syndromic craniosynostoses in our patient: Hypertelorism, proptosis, midfacial hypoplasia, and abnormal head shape. (Published with permission and informed consent of the patient).


Sagittal T2-weighted magnetic resonance imaging shows a 18 mm cerebellar tonsil herniation into the foramen magnum with accompanying syringomyelia between Th 4 and Th 7 with the largest thickness of 11 mm.


Sagittal T2-weighted MRI of the craniocervical junction showed complete resolution of 18 mm cerebellar tonsil herniation.


Sagittal T2-weighted thoracal MRI showed relative resolution of the accompanying syringomyelia between Th 4 and Th 7 with the largest thickness of 7 mm.


A dark-red nodule with extended purpura on the right femur with prominent lymph edema (a).


Irregularly anastomosing vascular channels lined by single layers of enlarged, atypical endothelial cells that existed between the collagen bundles (H&E staining) (b).


Immunohistochemical staining for case 1: IL-23.


Multiple dark-red nodules with extended purpura on the left femur with prominent lymph edema (a).


Irregularly anastomosing vascular channels lined by single layers of enlarged, atypical endothelial cells that existed between collagen bundles with prominent apoptotic cells (b).


Immunohistochemical staining for case 2: IL-23.


(a, b) Radiographs of the cervical and thoracic spine demonstrating fused vertebral bodies from C2 down to T6.


No instability was documented on flexion-extension studies, (c) Significant kyphosis at the higher thoracic spine.


(a-d) Pre-operative cranio-cervico-thoracic CT scan showing a mass in the posterior fossa behind the fourth ventricle and below the cerebellum extending down behind the spinal cord to the posterior thoracic vertebra to T1. In the posterior fossa, it obstructed the foramen of Magendie, thus resulting in secondary obstructive hydrocephalus. In addition, fusion of the cervical and thoracic vertebral bodies from C2 to T6, involving the anterior spinal column and posterior elements is seen.


(a-c) CT-angiography showing the vertebral arteries located anterior to the lesion in addition to a low-lying venous confluence.


Pre-operative magnetic resonance imaging, T1WI sagittal.


T2WI sagittal.


Stir axial. Sections documenting an expansive midline lesion extending from the cranio-cervical junction down to T1. The dermal sinus tract, extending from the dermis to the suboccipital bone below the occipital protuberance is identified on T1WI and T2WI (arrow).


Intraoperative image of the dermoid cyst.


Postoperative magnetic resonance imaging, T1WI sagittal.


T2WI sagittal. Sections and T1WI axial.


Postoperative plain lateral cervicothoracic radiograph demonstrating no new-onset deformity at 6-year follow-up.


Postoperative magnetic resonance imaging, T2WI sagittal.


T2WI axial.


T1WI post-gadolinium axial sections demonstrating no recurrence at 6 years after surgery. Demonstrating no recurrence at 6-year follow-up.


General appearance.


Extraoral appearance.


Dilated vessels in eyes.


Intraoral frontal view.


Occlusal view.


Facial features.


Echocardiogram. Long axis view with aortic valve (large arrow) and severe supravalvular aortic stenosis with turbulent blood flows (small arrow).


Computerized tomography angiography. Severe supravalvular aortic stenosis (SVAS) measuring 7mm above normal aortic valve (large arrow) and coronary origins.


Computerized tomography angiography. Hypoplastic aorta ascenders versus normal pulmonary artery size (large arrow).


Computerized tomography angiography with three-dimensional reconstruction. Anterior view with severe hypoplasia of ascending aorta (large arrow).


Computerized tomography angiography with three-dimensional reconstruction. Posterior view with arch hypoplasia without coarctation of the aorta with bovine type head and neck vessels branching pattern.


Magnetic resonance imaging abdomen showing absent uterus and vagina. Absent left kidney. Grade-I spondylolisthesis with bilateral spondylosis at L5-S1 level.


Magnetic resonance imaging abdomen - Visualization of gonads with features s/o of ovary at both para iliac region.


Karyotype study shows (46, XX) chromosome.


Computed tomography brain shows dandy walker malformation with vermian hypoplasia. Partial agenesis of corpus callosum and colpocephaly with obstructive hydrocephalus.


X - ray skull showing macrocephaly.


One of 21 focal stereotyped motor seizures captured during overnight video-EEG monitoring. The patient wakes up abruptly and presents with irregular hypermotor activity in all four limbs, which lasts for about 10 seconds.


Overnight video-EEG monitoring: one of the seizures arising from non-REM sleep (stage 2). K-complex is followed by fast rhythmic activity in the frontal regions lasting for 0,3-0,5 seconds, before EEG is obscured with myographic artifacts.


Videoflouroscophic examination confirms posterior extrensic compression of the barium column by osteophytes at the level of C6-7 and proximal dilatation of the esophagus.


Sagittal T2-w MRI showing compression on the esophagus caused by anterior osteophytes.


The length of styloid process was measured in the upper limits at the right side (25 mm) while it was elongated at the left side (34 mm).


Thyroid ultrasound. (A)
Case 1: transverse view of the right thyroid lobe with an ill-defined hypoechoic area (arrow).


Thyroid ultrasound. (B)
Case 1: longitudinal view of the right thyroid lobe with decreased blood flow within the hypoechoic areas on color-coded Doppler sonography.


Thyroid ultrasound. (C)
Case 2: transverse view of the right thyroid lobe with a distinct hypoechoic area (arrow).


Thyroid ultrasound. (D)
Case 2: transverse view of the right thyroid lobe with decreased blood flow within the hypoechoic area on color-coded Doppler sonography.


Evolution of UTC, salivary F and serum F during follow-up,
normalized by the upper limit normal range (ULNR).


MRI sequences during follow-up. (A) May/2007: coronal view on T 1-weighted MRI of
the pituitary gland identified a heterogeneous solid macroadenoma
(1.9x1.8 cm of diameter - arrow).


MRI sequences during follow-up. (B) August/2013: MRI after four years of
transsphenoidal surgery - questionable remnant tumor tissue or
arachnoid cyst (arrow).


The 7-month-old boy has persistent flail arm after constriction band release with Z-plasty at 3 months of age at an outside hospital. The arm had limb length discrepancy but did show evidence of tone to hand and forearm.


Dissection of the median and ulnar nerves revealed narrowing of the nerves in the compressed regions (yellow dashes) with preservation of caliber and vascularity distally. The brachial artery (left vessel loop) abruptly ended at the proximal end of the constricting band with no radial or ulnar artery identified.


Sural nerve was used to bridge the 5-cm defect in both the median and ulnar nerves with 9-0 nylon and Tisseel fibrin glue. Radial nerve exploration was not undertaken due to vascular threat to limb at this stage of operation.


Alopecia and hair loss identified in patient with CCS.


Hyperpigmentation of the hands and fingers are present in this case.


Onychodystrophy and atrophic nail change in patient with CCS.


Clinical photograph of the patient at birth.


Fundus image of the right eye at 57 days after birth. Note the wide avascular retina with markedly progressed tractional changes.


Brain magnetic resonance imaging performed on day 217. . A: Axial T1-weighted section showing enlargement of lateral ventricles with a frontal large cyst.


Brain magnetic resonance imaging performed on day 217. . B: Parasagittal T1-weighted section showing a distinct enlargement of lateral ventricle and global reduction of white matter volume.


Pedigree of the patient's family. Squares represent male family members, while circles represent female family members. The diamond symbol indicates unknown gender. Slash indicates that the family member is deceased. Black symbols represent individuals with ID/DD, and blank symbols represent unaffected family members. The gray filled symbols indicates balanced translocation carriers.


(a) Coronal view of the gadolinium-enhanced early postoperative brain magnetic resonance imaging. There is a small shell of tumor remnant (a: asterix) at the floor of the third ventricle abutting the hypothalamus.


Sagittal section of the left side of the sellar region showing that the pituitary stalk. Arrow), and . Gland. Asterix) have been well preserved.


Hand X-ray showing extensive soft tissue edema of the right hand.


Displaying the results of distribution fitting analysis. (A) Distribution fitting for positive increment of blood glucose values in Period 1, alpha-stable (1.1430, 1, 0.061, 0.4945) and Gaussian (0.2428, 0.2126).


Displaying the results of distribution fitting analysis. (B) Distribution fitting for absolute values of negative increment of blood glucose values in Period 1, alpha-stable (1.0852, 1, 0.0759, 0.6886) and Gaussian (0.2020, 0.2887).


Displaying the results of distribution fitting analysis. (C) Distribution fitting for positive increment of blood glucose values in Period 2, alpha-stable (1.1565, 1, 0.0338, 0.3126) and Gaussian (0.1668, 0.0966).


Displaying the results of distribution fitting analysis. (D) Distribution fitting for absolute values of negative increment of blood glucose values in Period 2, alpha-stable (1.1735, 1, 0.0352, 0.3112) and Gaussian (0.1752, 0.0989). EDF: empirical density function.


The complexity of glucose dynamics in Periods 1 and 2 for the integrative treatment. (A) The power spectral density.


The complexity of glucose dynamics in Periods 1 and 2 for the integrative treatment. (B) Multiscale entropy analysis (MSE).


The complexity of glucose dynamics in Periods 1 and 2 for the integrative treatment. (C) Multifractal detrended fluctuation analysis: Q-order Hurst exponent.


The complexity of glucose dynamics in Periods 1 and 2 for the integrative treatment. (D) Multifractal spectrum analysis. The error bar (ie, standard deviation) in Panels B and C was given by bootstrapping all the ordered glucose time series that contain 95% of the original data.


Fundus photographs (Fundi) and FA. . Abbreviations: OD, oculus dexter; OS, oculus sinister; FA, fluorescein fundus angiograms.


Results of Goldmann-Weekers dark adaptometry. . Note: The thin line indicates the average +- standard deviation isopter of normal controls.


Horizontal section of CT abdomen showing splenic infarct.


Coronal section of CT abdomen showing splenic infarct.


Growth chart from birth to 2 years old (downloaded from https://www. cdc. gov/growthcharts/clinical_charts. htm).


T2-weighted axial MRI showing cerebral hemiatrophy on the right side of the brain at the level of the basal ganglia.


At the supraganglionic level.


MRI of the brain showing frontal sinus hypertrophy in an axial T2-weighted sequence (thick white arrow.


Along with calvarial thickening in an axial T1-weighted sequence (thick black arrow.


Crossed cerebellar hemiatrophy is evident on the left side in axial T2-weighted (thin white arrow.


Coronal T2-weighted images (thin black arrow.


Posterior view of distal forearm and hands shows increased uptake in the phalanges, distal ends of metacarpals, radius and ulna.


Anterior view of feet and lower limb on a Tc-99m MDP bone scan shows pericortical uptake in the distal ends of tibia and fibula. Prominent uptake in distal ends of 1st metatarsal and phalanges of both feet is also seen.


Posterior view of both lower limb and feet showing increased uptake at the distal ends of tibia and femur bilaterally with increased pericortical uptake at distal ends.


Whole body bone scan with normal chest anterior and posterior view and normal axial skeleton.


Tongue aspect at the first observation.


Tongue aspect after 2 weeks of treatment with fluconazole.


Follow up imaging after 2 months shows (a) resolution of hyperintensity in cervical cord on sagittal T2 weighted MRI.


However, the lung mass was clearly evident and increased in size on,. Coronal T2 short tau inversion recovery (STIR).


T1 fat suppression.


(d) STIR coronal view shows resolution of signal changes in the nerve roots. Figures e and f shows contrast enhancing rounded opacity in the apex of left lung on computed tomography of chest.


The tumor cells are pleomorphic, round to oval in shape having high nucleo cytoplasmic ratio, hyperchromatic nuclei inconspicuous nucleoli surrounded by moderate to abundant cytoplasm suggestive of squamous cell carcinoma.


There is the characteristic ST-segment elevation >=2 mm in >=1 right precordial lead (V1 to V3), followed by an r'-wave and a straight ST-segment. . Notes: Additionally, the descending ST-segment crosses the isoelectric line and is followed by a negative and symmetric T-wave. At 40 ms of high takeoff, the decrease in amplitude of ST is <=4 mm, the duration of QRS is longer than in a right bundle branch block and there is a mismatch between V1 and V6 (Figure 2). No high-pass filters were applied to attenuate low-frequency noise.


99mTc-sestamibi dual phase images showing a 4-gland parathyroid hyperplasia. . (a) Tracer uptake by the thyroid and parathyroid glands in the early phase image.


99mTc-sestamibi dual phase images showing a 4-gland parathyroid hyperplasia. . (b) Delated tracer washout from all the hyperplastic parathyroid glands (the arrows), in the late phase image.


Changes in Serum Calcium and PTH postoperatively. . Serum Ca: total serum calcium; Ca2: serum ionized calcium level; PTH: Parathyroid hormone.


Changes in Electrolytes (Phosphorus and Magnesium) Postoperatively.


Ultrasound appearance of the tumor.


Computed-tomography appearance of the tumor.


Histologic examination. Core needle biopsy of the tumor:. Magnification x200, hematoxylin-eosin staining:small-blue-round-cell tumor.


Histologic examination. Magnification x200, PAS:positive staining.


Histologic examination. Magnification x200, S100:positive staining.


Histologic examination. Magnification x200; CD99:positive staining.


Postoperative specimen:left lobe of the thyroid with the isthmus.


Vitiligo lesions. Depigmentation of eyebrows.


Vitiligo lesions. Hair.


Vitiligo lesions. Skin. Observed after 8 months of treatment with nivolumab. Depigmentation affected the whole skin but preferentially the chest.


Macroscopic and microscopic examination. Macroscopic examination.


Macroscopic and microscopic examination. : fibrosis alterations on upper pole of the kidney (arrow) Microscopic examination : fibrosis alterations with calcifications and without residual tumor cells. Stars indicate normal parenchyma.


Growth chart of the patient with cyclic Cushing's disease.


Body mass chart of the patient with cyclic Cushing's disease.


Pictures of the patient with cyclic Cushing's disease in symptomatic hypercortisolemia at the age 7 2/12 years, followed by remission at the age 7 8/12 years and in the relapse period at the age 8 6/12 years.


(a and b) Anterior planar image of I-123 thyroid uptake and scan demonstrating diffusely enlarged thyroid gland with homogeneous tracer uptake in both lobes of thyroid. 24-h uptake was measured at 63.6.


Case 1. Latest positron emission tomography scan showing complete metabolic resolution of the disease.


Case 2. Magnetic resonance image of the pituitary gland showing a mass lesion infiltrating the pituitary stalk.


Case 3. Magnetic resonance image of the pituitary gland before chemotherapy.


Case 3. Magnetic resonance image of the pituitary gland after chemotherapy showing an empty sella.


Case 4. Magnetic resonance image of the pituitary gland showing a pituitary stalk lesion.


Computerized tomographic scan of the thorax showed a large infiltrative anterior mediastinal mass measuring 5.4 cm x 5.9 cm x 3.8 cm at the anterior superior mediastinum, abutting into right heart margin (coronal view, A).


Multiple lung nodules (largest measuring 1.3 cm x 1.1 cm) and mediastinal lymphadenopathy were also noted (axial view, B).


Head computed tomography (CT). (A) Age 77 years.


Head computed tomography (CT). (B) Age 80 years. At 3-year follow-up (B) head CT shows selective hippocampal atrophy, but no frontal or temporal lobe lateral atrophy.


CT showing leukoaraiosis (periventricular hypodensity) suggestive of
Binswanger's disease.


Plain X-ray taken at the time of injury reveals a fracture of the proximal third of the ulna and anterior dislocation of the proximal end of the radius.


Photograph indicating limited extension and flexion.


(a) Anterior dislocation of the radial head surrounded by ossification.


(b) Plastic deformation of the ulna.


Fluoroscopic image obtained post-ulnar osteotomy. Reduction of the radial head was not achieved.


Scart issue surrounding the radial head (arrow). Reduction of the radial head was achieved on removing the scart issue.


(a and b) post-operative plain X-rays (lateral [above] and frontal view [below] views) showing reduction of the radial head dislocation on the day after angle correction to 20 byexternal fixation. The radius was lengthened by 7 mm.


The annular ligament was reconstructed using the restored triceps muscle fascia(arrow).


A 7-year-old boy with microphthalmia, microcornea, prominent root of the nose.


Low set posteriorly placed ears.


With micropenis, cryptorchidism.


With syndactyly of the 2nd-3rd toe.


Magnetic resonance imaging of brain shows hypoplasia of corpus callosum.


Right ventriculomegaly and frontal pachygyria.


Diffuse hair loss on the frontal scalp and vertex of the scalp with decreased thickness of temporal and occipital hair.


Elongated styloid process (SP) on both sides with suspected fracture of left SP.


Undisplaced fracture of left styloid process.


Normal looking bladder on videourodynamic study.


Wounds after bilateral S3 neurostimulator implantation.


Transcutaneous remote control of current intensity of the S3 neurostimulators.


Haematoxylin and eosin staining with identification of oedema of the dermis and inflammatory infiltrate at 100x.


Haematoxylin and eosin staining for identification of inflammatory infiltrate of the dermis, rich in polymorphonuclear neutrophils, 400x.


Preoperative electrocardiography of the patient.


Atrial fibrillation on the third postoperative day (fever and infection).


Magnetic resonance imaging of brain showing isointense sellar lesion with enhancement of pituitary stalk.


Magnetic resonance imaging of brain showing uniform enhancement of sellar lesion in contrary to ring enhancement seen in tuberculoma.


Head magnetic resonance imaging after onset. A: Diffusion-weighted image (DWI) showing a high-intensity area extending from the basal ganglia to the corona radiata of the left cerebrum and multiple small high-intensity areas at bilateral cerebral cortices.


Head magnetic resonance imaging after onset. B: Fluid-attenuated inversion recovery showing several small high-intensity areas in the same locations detected on DWI (arrowheads).


Head magnetic resonance imaging after onset. C: Magnetic resonance angiography demonstrating no steno-occlusive changes.


Head computed tomography (CT) scans after thrombolysis. A: CT scan right after the neurological deterioration showing a subcortical hemorrhage in the left occipital lobe.


Head computed tomography (CT) scans after thrombolysis. B: Repeat CT scan the day after onset showing enlargement of the left occipital hemorrhage and two subcortical hemorrhages in the right frontal and right temporal lobes.


(a) Eight years before surgical excision (17 x 12 x 14 mm).


(b) Four years before surgical excision (28 x 18 x 30 mm).


(c) Preoperative (60 x 20 x 35 mm).


(a) Preoperative appearance.


(b) The excised mass with indurated subcutaneous fat.


(a,b) The subcutaneous tissue was degenerated broadly (Haematoxylin and eosin staining).


(c) Extensive amyloid deposition in the subcutaneous tissue (arrow) (Congo red staining).


(d) No evidence of vascular involvement (arrow: subcutaneous artery without amyloid deposition) (Congo red staining).


Timeline in days of clinical symptoms, laboratory findings, procedures and treatment of PP and MD.


Axial MRI, preoperative. (A) Anterior sacral meningocele.


Axial MRI, preoperative. (B) Teratoma.


Sagittal MRI, postoperative.


CT angiography axial section image at cervical spine (C1) shows occluded dissected internal carotid artery on the right side (black arrow) in comparison to the patent internal carotid artery on the left (white arrow).


Computed tomography scans taken during the adrenal/venous phase (60 seconds after contrast injection). A well-defined, enhancing hypodense focus measuring 4.7 x 4.1 x 4.8 cm is seen in the left suprarenal region.


Computed tomography scans taken during the adrenal/venous phase (60 seconds after contrast injection). A well-defined, enhancing hypodense focus measuring 4.7 x 4.1 x 4.8 cm is seen in the left suprarenal region. Axial view. Coronal view.


Gross appearance of the left adrenalectomy specimen. (A) The specimen weighed 62 grams and measured 7.0 x 6.4 x 4.3 cm, brown tan to gray and partially covered with fibrofatty tags.


Gross appearance of the left adrenalectomy specimen. (B) Serial sections of the specimen showed a well-defined mass measuring 6.0 cm in its widest diameter with pink-tan to yellow soft cut surface and hemorrhagic areas.


Multiple irregular, grouped skin colored papules and plaques arranged in a zosteriform pattern along the right thoracic (T1) segment.


Contrast enhanced computed tomography chest showing miliary nodules along with subpleural involvement with interlobular peribroncho-vascular thickening and interspersed areas of consolidation.


The gallstone causes cholecystoduodenal fistula.


Repeated windows of a house.


Repetitive flowers.


Repetitive triangles.


Repeated peculiar characters.


Tumor is composed of small, round cells with inconspicuous nucleoli and scanty cytoplasm, which are arranged in sheets or solid nests (Hematoxylin-Eosin staining, X400).


Tumor displays a diffusely infiltrative growth pattern. Rare residual breast ducts are also seen (Hematoxylin-Eosin staining, X100).


On immunohistochemistry, the tumor cells show strong membranous staining for CD99 (CD99, X400).


(A) Photograph of a 70-year-old female with diffuse swelling of the left lower eyelid.


Computed tomographic scans,. Axial.


Coronal, showed no evidence of a mass lesion or soft tissue infiltration.


Chest radiograph shows multiple confluent irregular opacities (arrow) in right upper lobe. There are no remarkable findings in hilar region with shadow of aortic arch (arrowhead).


(A) There are multifocal granulomas with lymphocytic infiltration in the fat (H&E, x40).


(B) High magnification view shows a well-formed, non-caseating granuloma composed of epithelioid histiocytes with surrounding lymphocytes (H&E, x400).


(A) The patient showed significant improvement of the left lower lid swelling after surgery.


(B) Left lower lid swelling was completely resolved after low dose steroid treatment.


Sinus tachycardia, incomplete right bundle branch block with minimal ST elevation in V1 and V2 (standard position); QT/QTc = 344/483.


Sinus tachycardia, first degree AV block, incomplete right bundle branch block with ST elevation in V1 and V2 (standard position) consistent with Brugada Pattern Type I.


Sinus tachycardia with Type III Brugada pattern characterized by <2mm ST elevation in V1 and V2 (standard position); QT/QTc = 294/473.


Fusiform dilatation of the trachea.


Tracheal dilatation and tracheomalacia with dynamic collapse during cough or forced expiration.


Tracheomegaly with an internal diameter of 46.32 mm.


Novel TREX1 mutations and elevated type I IFN were found in the patient. New mutations of c.137 (exon2)_c.138 (exon2) insC.


Novel TREX1 mutations and elevated type I IFN were found in the patient. C.292 (exon2)_c.293 (exon2) insA. In TREX1 gene of the patient were detected by Trio-based whole-exome sequencing.


A 72-year-old female patient with a symptomatic carotid stenosis. Ultrasound examination showed: (a and b) Soft-tissue mass, vascularized, with sonographic findings suggestive of thyroid tissue, located just above the geniohyoid muscle in the sublingual and suprahyoid space.


A 72-year-old female patient with a symptomatic carotid stenosis. (c) With convex-array scanner, in more cranial and posterior position, at the level of the tongue base, there is a hypoechoic oval mass indicate a lingual thyroid.


Interictal electroencephalogram during sleep showing quasi-continuous, centro-temporal, and high voltage spike-and-wave complexes, frequently followed by theta-delta activity.


Images from intraoperative phlebography of the suprahepatic vein followed by balloon angioplasty in the first intervention. In (A), phlebography demonstrating hepatic vein stasis, caused by stenosis of the suprahepatic vein outflow.


Images from intraoperative phlebography of the suprahepatic vein followed by balloon angioplasty in the first intervention. In (B), pre-dilation with an 8 mm balloon. Observe the stenosis induced in the balloon.


Images from intraoperative phlebography of the suprahepatic vein followed by balloon angioplasty in the first intervention. In (C), dilation with a 12 mm balloon. Observe the reduced stenosis induced in the balloon.


Images from intraoperative phlebography of the suprahepatic vein followed by balloon angioplasty in the first intervention. In (D), control phlebography demonstrating considerable improvement in outflow.


Intraoperative phlebography images of the suprahepatic vein followed by balloon angioplasty in the second intervention. In (A), phlebography demonstrating hepatic vein stasis, caused by stenosis of the suprahepatic vein outflow.


Intraoperative phlebography images of the suprahepatic vein followed by balloon angioplasty in the second intervention. In (B), pre-dilation with a 10 mm balloon. Observe the stenosis induced in the balloon.


Intraoperative phlebography images of the suprahepatic vein followed by balloon angioplasty in the second intervention. In (C), dilation with a 14mm balloon.


Intraoperative phlebography images of the suprahepatic vein followed by balloon angioplasty in the second intervention. In (D), control phlebography demonstrating considerable improvement in outflow.


(a) Silvery gray hair on the scalp and mottled pigmentation present over the face.


(b) Silvery gray hair on the scalp.


(c) Mottled pigmentation present over both upper and lower limbs.


(d) Mottled pigmentation closer view.


Light microscopy at x40 magnification showing large regular clumps of melanin in the hair shaft.


Polarized microscopy showing bright shaft with different individual colors.


Gray hair present on scalp.


Light microscopy at x40 magnification showing large irregular melanin granules.


Grayish discoloration of scalp and eyebrow hair.


Polarized microscopy showing bright hair shaft with monotonous white appearance.


CT images after surgery in. Arterial phase.


VRT respectively. The arteries in porta hepatis are decreased compared with those before operation.


Hematoxylin and eosin stain of a duodenal biopsy specimen showing inflammatory cell infiltrate, marked blunting of villi and Strongyloides stercoralis larvae (x100).


Longitudinal and cross-sectional view of a duodenal biopsy specimen stained with hematoxylin and eosin showing several S. stercoralis larvae lying within a crypt (x40).


T2-weighted sagittal section showing multilevel ossification of ligamentum flavum (arrows) causing cord compression at multiple levels in cervical and thorax spine.


T2-weighted axial section at T10-T11 level showing ossification of ligamentum flavum with severe spinal canal stenosis and cord compression (arrow).


T2-weighted sagittal section at T10-T11 level showing ossification of ligamentum flavum with severe spinal canal stenosis and cord compression (arrow).


T2-weighted axial section at T10-T11 level showing intramedullary hyperintense signal changes (arrow) suggesting cord edema.


T2-weighted sagittal section showing intramedullary hyperintense signal changes at T10-T11 and T3 levels (arrows) suggesting cord edema.


T2 weighted sagittal section at T10-T11 level showing removal of previously present large ossified ligamentum flavum segment (arrow). Significant postsurgical changes are seen.


Preoperative computed tomography (CT) findings. Initial CT image on admission showing tumor in the sphenoid sinus.


Preoperative computed tomography (CT) findings. And destructive changes in the left petroclival synchondrosis (arrow).


Preoperative magnetic resonance imaging findings. Contrast-enhanced T1-weighted image showed the sphenoid sinus lesion with homogenous enhancement (*) (a).


Preoperative magnetic resonance imaging findings. The tumor involved several skull base structures and extend into posterior fossa (b).


Intraoperative findings. The tumor exposed by the transsphenoidal approach underlying the edematous sphenoid sinus mucosa (a).


Intraoperative findings. The tumor was relatively fibrous and was resected using ultrasound aspirator (b).


Intraoperative findings. Residual tumor connected to the petroclival lesion through the destructive clivus (allows) (c).


Postoperative magnetic resonance imaging findings (22 months after). Contrast-enhanced T1-weighted image showing that thickening of the sinus mucosa due to sinusitis, however, elimination of the petroclival tumor that had extended into the surrounding structures.


Intra operative photograph showing a tumour thrombus easily removed from the right IJV (arrow) via a longitudinal venetomy incision.


Axial T2-weighted magnetic resonance image of the pelvis shows a complete absence of the uterus, the cervix and the vagina, with normal ovarian signal intensity. The white arrow shows the left ovary.


Sagittal T2-weighted with fat saturation and T1-weighted with contrast show uterovaginal atresia.


Coronal section magnetic resonance imaging of the pelvis (proton density with fat saturation) shows a left side pancake-shaped kidney. The white arrow shows the ectopic kidney.


Magnetic resonance angiography (anterior view) of pelvic main vessels shows that the median sacral artery supplies the pelvic kidney. The white arrow shows the median sacral artery.


Malar hypoplasia, severe mandibular hypoplasia with retrognathia.


Genu varum and bilateral club feet.


Abnormal overbite with overlap of the upper teeth.


A 31-year-old man with 22q11.2 deletion syndrome who presented for evaluation of vascular anomalies. (a) Contrast-enhanced computed tomography of the thorax axial image demonstrates the main pulmonary trunk (P) giving rise to the right pulmonary artery (R) with the absence of the left pulmonary artery and hypertrophied collateral left bronchial artery (black arrow). (b) Computed tomography axial image demonstrates a right-sided aortic arch (A) and hypertrophied collateral left intercostal arteries (white arrow heads) and bronchial artery (white arrow) supplying the left lung. (c) Computed tomography axial image in lung window shows reticular opacities penetrating the peripheral left lung parenchyma representing intercostal artery collaterals (arrows). The left lung is slightly smaller compared to the right. (d) Computed tomography axial image shows no discernible thymic tissue in the anterior mediastinum.


Volume-rendered computed tomography angiographic image from the right anterior oblique perspective from the same patient shows the right-sided aortic arch (A) with mirror image branching: left brachiocephalic trunk (thick arrow), right common carotid artery (thin arrow), and right subclavian artery (arrow head). Note hypertrophied left internal mammary artery.


Axial post-contrast T1-weighted MRI showing homogeneously enhancing soft tissue along the course of right trochlear nerve entering the superior orbital fissure. Multiple homogeneously enhancing plexiform, soft-tissue masses are seen in bilateral cavernous sinus region obscuring the course of 3rd, 4th, 5th, and 6th cranial nerves.


(A) Axial post-contrast T1-weighted MRI image showing homogeneously enhancing soft-tissue mass in bilateral cerebellopontine angle extending into internal auditory canal along the course of 7th and 8th cranial nerve complex giving a bilateral "ice-cream cone" appearance suggestive of schwannomas.


(B) Coronal post-contrast T1-weighted image with a heterogeneously enhancing solid cystic mass of the nucleus of lower cranial nerve projecting in extra-axial spaces compressing and distorting left cervicomedullary junction along the course of the 9th cranial nerve toward jugular foramen. In addition, multiple lobulated enhancing masses are seen along the course of exiting lower cranial nerves (10th, 11th, and 12th cranial nerves) in upper cervical foramina.


(C) Sagittal T2-weighted image with mass in cervicomedullary region as detailed above. Additionally, intramedullary T2 hyperintensity at C2-C3 level (compatible with ependymoma or astrocytoma) with intradural extramedullary neural lesion at C6 level displacing the cord anteriorly with intramedullary hyperintensity is seen.


Hematoxylin and eosin stain of the biopsy of the exophytic growth over the trunk, demonstrating picture consistent with neurofibroma.


Time course of thyroid function. The first thyrotoxicosis episode was misdiagnosed as Graves' disease and rapidly changed to a hypothyroid state due to thiamazole administration. One and a half years later, a second thyrotoxicosis episode occurred, and the patient recovered without treatment. Four years after the first episode of thyrotoxicosis, the third thyrotoxicosis episode occurred. Low Tc-99 m uptake without fever and pain indicated painless thyroiditis. Retrospectively, all of these thyrotoxicosis episodes seemed to be repeated painless thyroiditis.


SWISS-MODEL-predicted structures of ADAMST13WT
(A) and ADAMST13 p.


R193W
(B). Tryptophan (a basic amino acid with molecular weight of 204) in substitution for arginine (an aromatic amino acid, with molecular weight of 174) changed the molecular weight, polarization and folding, probably leading to accelerated protein degradation.


Preoperative and postoperative clinical photographs. Right eye of Case 1 with spherophakia.


Preoperative and postoperative clinical photographs. Left eye of Case 2 with spherophakia status post trab, and ,patent superior peripheral iridectomy.


Preoperative and postoperative clinical photographs. Glued intraocular lens in situ in the right eye of Case 1.


Preoperative and postoperative clinical photographs. Glued intraocular lens in situ in left eye of Case 2.


Preoperative and postoperative clinical photographs. Circled inset showing intrascleral portion of haptic of the glued intraocular lens on anterior segment examination.


Anthropometry of patients with Weill-Marchesani syndrome. Two brothers with spherophakia. Short stature, brachycephaly.


Anthropometry of patients with Weill-Marchesani syndrome. Two brothers with spherophakia. Brachydactily of upper extremity with stiff joints.


Anthropometry of patients with Weill-Marchesani syndrome. Two brothers with spherophakia. Brachydactily involving lower extremity.


Clinical presentation of the patient. Body scheme showing the distribution of six cafe-au-lait macules (CALMs) (a).


Clinical presentation of the patient. Colonoscopy image showing multiple polyps in a section of the left hemicolon (b).


Clinical presentation of the patient. Representative CALMs from trunk, note the irregular (cost of Maine shaped) border.


Clinical presentation of the patient. And right hip.


Ceramic edge-up partial crowns cemented.


6 months follow up photograph.


Coronal and sagital view of the pituitary visualised by positron emission tomography using 11C-methyl-L-methionine magnetic resonance imaging (MET-PET/MR). The study revealed the pituitary gland as being morfologically slightly thicker on the left side of the cyst with a peak of tracer uptake in this area. SUV max was 4.17 for this region compared to SUV max 3.14 in the remaining pituitary tissue. White arrows indicate the location of increased tracer uptake.


Timeline with information from the episode of care.


Limb deformities.


Ectrodactyly of toes.


X-ray right hand showing syndactyly.


X-ray of left hand showing ectrodactyly.


Protrusion over right thigh.


X-ray showing bifid femur with fibular agenesis.


X-ray showing absence of right 3,4,5 metatarsals and phalanges, absence of left 4,5 metatarsals and phalanges.


X-ray showing caudal (sacrococcygeal) agenesis.


Multislice CT scan (coronal plane) prior to orbital decompression. . Note: There is significant enlargement of the extraocular muscles, more pronounced on the left, and apical crowding.


Multislice scan (coronal plane) 1 week after bony decompression of the left orbit. . Notes: There are defects in the lateral, medial, and inferior orbital walls. Significantly enlarged medial and inferior rectus muscles are displaced toward the defects in the corresponding walls. The lateral rectus muscle and orbital fat are observed outside the internal contour of the lateral wall.


Histology of a prolactin-producing pituitary tumor. Tumor with diffuse growth pattern of cells with elongated nuclei and inconspicuous nucleoli and moderate amount of slightly acidophilic cytoplasm [(A):HE 400x.


Histology of a prolactin-producing pituitary tumor. Prolactin expression in neoplastic cells [(B):400x.


Thyroid ultrasonography (A) showed a normal size gland, with heterogeneous texture and pseudonodular areas, without nodular lesions, suggesting thyroiditis. The color flow Doppler signal showed significantly increased vascularity with diffuse homogeneous distribution (thyroid inferno).


There was a markedly hyperfunctioning thyroid in scintigraphy (B), with homogeneous activity distribution and no focal areas suggestive of hyper- or hypoactive nodular formations. The radioactive iodine uptake was 70.2% at the end of 24 h, markedly elevated compared to normal range (10-30.


Panel (C) shows the evolution of thyroid function. After pituitary surgery in 2009 the patient developed secondary hypothyroidism and initiated LT4. She was admitted with primary hyperthyroidism in April 2015 and initiated MMI. During antithyroid drug withdrawal before scintigraphy, FT4 and FT3 re-increased above the reference range. MMI was progressively reduced after 6 months of treatment, but after withdrawal in October 2015, central hypothyroidism recurred and she resumed LT4 since March 2016. Abbreviations: LT4, levothyroxine; MMI, methimazole; FT4, free thyroxine; FT3, free triiodothyronine.


Evolution of serum prolactin levels over time and its relation with medical, surgical, and radiation therapy. *Samples not diluted.


Preoperative. T1, and . Another signal abnormality seen at S2-3 level causing scalloping of the vertebral bodies - isointense on T1.


T2-weighted sagittal magnetic resonance imaging (MRI) showing mixed signal abnormalities representing syringomyelia with septations extending from T12 to S1 levels, alongside cord tethering and thickening of the filum terminale at the S2 level. Hyperintense on T2 , representing a Tarlov cyst.


T1-weighted axial cuts at the L3-4 level.


Highlighting contrast enhancement of a solid component with gadolinium and enlargement of the spinal canal at the S2 level by the Tarlov cyst.


(a) Observation of a very thinned out dural layer after laminectomy as depicted on durotomy.


(b) A midline myelotomy was performed to decompress the syrinx.


(c) Closer inspection revealed a yellow colored gliotic encysted space occupying lesion at the caudal end of the myelotomy.


(a) Represents the thickened filum terminale observed after S1-2 laminectomy, which was divided to untether the cord.


(b) The picture shows the relation of the Tarlov cyst with the durotomy (proximal) done for un-tethering.


(c) Represents the fenestration of the Tarlov cyst with evacuation of fluid and partial removal of the cyst wall.


Erythematous nodules over leg.


Boggy erythematous plaque over dorsum of the hand, with sutures at site of skin biopsy in the center.


Targetoid erythematous nodule on the radial aspect of finger.


T1-weighted pituitary magnetic resonance imaging before . (A) Pre-CAPTEM sagittal image shows an increase in the size of the seal tumor (26 mm) with a subacute bleeding component.


After. Treatment with capecitabine and temozolomide. (B) Post-CAPTEM sagittal image shows a decrease of 65% with a total size of 9 mm.


T1-weighted pituitary magnetic resonance imaging before . (C) Pre-CAPTEM pituitary coronal image shows invasion of clivus and protrusion into the sphenoid sinus.


After. Treatment with capecitabine and temozolomide. (D) Post-CAPTEM coronal image shows a decrease in size of the lesion, more prominent at the right level.


T2-weighted pituitary magnetic resonance imaging before . (A) Pre-CAPTEM axial image.


After. Treatment with capecitabine and temozolomide. (B) Post-CAPTEM axial image shows a decrease in size of 65% with prominent cystic degeneration.


T2-weighted pituitary magnetic resonance imaging before . (C) Pre-CAPTEM pituitary coronal image.


After. Treatment with capecitabine and temozolomide. (D) Post-CAPTEM coronal image shows a decrease in lesion.


Pedigree and GLDC variations confirmed by Sanger sequencing of the family. The patient (II) had a compound heterozygous variation c.450C>G (p. N150K) and c.1261G>C (p. G421R), which were inherited from her father 1), and . Mother 2), respectively.


Respective left eye images.


Images of the tumor. . Note: CT.


Images of the tumor. Positron emission tomography. Showing a paraesophageal soft tissue mass (4.1x6.8 cm; max: 12.9 SUV). . Abbreviations: CT, computed tomography; SUV, standard uptake value.


Glass slide stained with hematoxylin-eosin (magnification x40), showing small, round blue and basophil cells with scant cytoplasm and large nuclei infiltrating through the paraesophageal soft tissue.


Immunohistochemistry of tumor cells. . Note: Immunoreactivity for CD99 is strongly positive on the membrane of tumor cells.


The recovery of patient's skin and oral lesions within next weeks following withdrawal of the causative medication. Note hyperpigmentation of recovered lesions characteristic of fixed drug eruption. Patient's finger lesion.


The recovery of patient's skin and oral lesions within next weeks following withdrawal of the causative medication. Note hyperpigmentation of recovered lesions characteristic of fixed drug eruption. Upper lip lesion.


The recovery of patient's skin and oral lesions within next weeks following withdrawal of the causative medication. Note hyperpigmentation of recovered lesions characteristic of fixed drug eruption. Malleolar skin.


The recovery of patient's skin and oral lesions within next weeks following withdrawal of the causative medication. Note hyperpigmentation of recovered lesions characteristic of fixed drug eruption. Abdominal skin.


Percutaneous liver biopsy exhibited ballooning or feathery degeneration and macrovesicular fat droplets in lobular hepatocytes and periportal fibrosis and ductular proliferation in a portal space.


Sagittal T1WI MRI Pituitary showing enlargement of the pituitary stalk, measuring 13 mm in AP diameter.


Post gadolinium sagittal (T1WI) MRI of pituitary showing homogenous enhancement of the pituitary stalk (yellow arrow). The pituitary gland is small in size and has no focal lesion.


Domain organization and evolutionary conservation of the SHANK1 protein. Top, the alignment of N-terminal regions of H. Sapiens SHANK1 and SHANK3 proteins, and SHANK1 homologs from selected species (N = 7, selected for maximal divergence), and the mutation site (Gly126) is indicated by a box and a dotted line. Below, the domain organization of SHANK1 protein (NTD, N-terminal domain; ANK, ankyrin repeat region, SH3 domain; HRS, Homer recognition site; SAM, sterile alpha motif (oligomerization site). Homology modeled region marked by green bar. Bottom, the conservation plot for the H. Sapiens SHANK1 protein. Dots, % of residue identical to H. Sapiens (excluding deletions) at a given position in the multiple sequence alignment of homologous proteins (N = 25), line, % of deletions at a given position in the same alignment. Green dots/lines denote the modeled region. Below, a close:in view of the conservation plot for the N-terminal domain fragment:mutation site (Gly126) marked in red.


Thoracic radiography showed cardiomegaly, and computed tomography revealed a left lung mass with invasion of the heart and pleural effusion.


MRI showed a large mass surrounding the heart. The arrow indicates endocardial invasion of a lesional mass.


2018-5-8 chest CT showed right upper lobe consolidation, and ,destruction of the left sternoclavicular joint (arrows).


2019-06-04 chest CT showed gradually absorption of pulmonary consolidation but remains of bone destruction and lymphadenopathy after treatment (arrows).


After treatment, level of Immunoglobin G remained high (normal range 7.51-15.6 g/L).


Anti-Interferon-gamma autoantibodies concentration in serum, the patient (range: 33.13-47.06 ng/mL) was 2.85-fold to healthy subjects (anti-IFN-gamma-autoAbs). ***P<0.001.


A pulmonary AVM as seen on echocardiogram.


Coronal CT images showing AVM on right and left side (arrow).


Axial and sagittal CTA with 3D reconstruction. . Notes: (A) Axial CTA shows significant decrease in diameter of the LRV as it crosses between the aorta and the anomalous CMT.


Axial and sagittal CTA with 3D reconstruction. (B) Sagittal CTA shows a very acute aortomesenteric angle, with resultant compression of the LRV by SMA originating from the CMT.


Axial and sagittal CTA with 3D reconstruction. (C) Left anterior inferior oblique view of the NCP using 3D reconstruction of the same CTA. . Abbreviations: CMT, celiacomesenteric trunk; CTA, computed tomography-angiography; LRV, left renal vein; NCP, Nutcracker phenomenon; SMA, superior mesenteric artery.


Orthopantomogram (panorex) demonstrating multiple lucencies (arrows) in the left mandible.


CT of the mandible. There are well-defined lytic lesions with evidence of cortical destruction (arrow). These findings were initially considered suspicious for osteomyelitis.


Bone scan demonstrating multiple areas of abnormally increased uptake including the mandible and right iliac as well as symmetric uptake in the femurs and tibia (arrows). Mild uptake was also present in multiple other locations in the axial and appendicular skeletons. This distribution is highly suggestive of Erdheim-Chester disease.


MRI findings demonstrating multiple bilateral and symmetric sclerotic foci in the humeri, femurs, and iliac bones (arrows).


Findings on PET were very similar to those of the bone scan and showed increased FDG uptake in multiple locations in the skeleton. As in the case of the bone scan, the symmetric uptake in the lower extremities (arrows) is strongly suggestive of ECD.


MRI of the head, which demonstrated a bulky adenohypophysis with thickening of the pituitary stalk (arrow), a typical finding in ECD.


Lateral X-ray showing C2 vertebral body displaced anteriorly to C3 vertebral body.


Cervical CT scan. Anterior dislocation of the vertebral body C2 to the vertebral body C3 with the length more than 5 mm.


Cervical CT scan. ; axial CT scan showing bilateral pedicle fracture of the C2 (arrow) without disturbance of the foramen transversarium of the C2.


Thorax CT scan showing bilateral "ground-glass opacity" in the lung (arrow) in the coronal.


Axial view.


Right elbow MRI series showing a large heterogeneously enhancing and likely hemorrhagic mass with dilated vascular structures within the medial aspect of the distal biceps: axial view post-contrast.


Coronal view post-contrast.


Sagittal view.


Right elbow MRI. No evidence of soft tissue mass or abnormal marrow signal: axial view.


Right elbow MRI. , coronal view.


Right elbow MRI.sagittal view.


Clinical photographs of patient's face. Note the distinctive facial features with bushy arched eyebrows, long eyelashes, thick everted upper lip, broad nasal bridge, facial nevi, and hypertrichosis on upper cutaneous lip.


Clinical photograph of patient's knees, with numerous depigmented demarcated patches in a semisymmetrical distribution.


Clinical photograph of patient's trunk, with numerous scattered melanocytic nevi.


Painful, exuberant scaling and vesicular plaques upon presentation.


Skin lesions after treatment.


A fair-complexioned baby in unconscious state.


Light microscopy of hair showing pili torti (x-200).


Bronze-tan of photo-exposed skin with silvery shine of the hair.


Irregular clumps of melanin along the hair shaft (x-200).


The enterocutaneous fistula and wound appearance on admission.


The wound after the third operation for the enterocutaneous fistula.


(a) Maximum intensity projection image of F-18 fluorodeoxyglucose positron emission tomography-computed tomography.


Axial computed tomography and fused positron emission tomography/computed tomography (b-c) images showing fluorodeoxyglucose avid mural thickening involving the antero-pyloric region of the stomach.


Axial computed tomography and fused positron emission tomography/computed tomography (d-g) images showing fluorodeoxyglucose avid lytic lesion involving the thyroid cartilage.


(a) Maximum intensity projection image of 18F-fluorodeoxyglucose/computed tomography scan.


Sagittal computed tomography and fused positron emission tomography/computed tomography (b and c) images showing fluorodeoxyglucose avid mural thickening involving the urinary bladder, the primary site.


Axial computed tomography and fused positron emission tomography/computed tomography (d-g) images showing fluorodeoxyglucose avid lytic lesion involving the left lamina of the thyroid cartilage.


a well-circumscribed 5 cm x 5 cm swelling in the mandible.


The effects of liraglutide at the dosage from 0.6 to 2.4 mg on the body weight and the body mass index of the patient.


Electrocardiography. A ECG 90 min after the onset of symptoms with ST depression in antero-lateral and inferior leads and specular elevation in aVR. B; ECG 3 hours after the onset of symptoms: normal exam.


Epithelial cells with an organoid and trabecular pattern with positive immunohystochemical staining for chromogranin A.


Negative for thyroglobulin.


Epithelial cells with an organoid and trabecular pattern with positive immunohystochemical staining for calcitonin (A-B).


Anatomo Physiological correlation between OCT Cirrus 4000 scan, Neurological Visual Field and Multifocal Electroretinogram. A; B-Scan of OCT Cirrus 4000 on foveal line of the right and left eye respectively (Red arrow shows the disruption of the photoreceptors). B; Neurological visual field of both eyes (Red arrow shows the limit of the peripheral scotoma and mild macular respect). C; Ganglion Cell Map of OCT Cirrus 4000 that shows a diffuse compromise of the ganglion cell with greater affection on the left eye. D; Multifocal electroretinogram that shows a diffuse compromise with a mild macular respect in both eyes. (Red arrow shows the limit of the functional and dysfunctional retina at macular level).


Specular microscopy shows the endothelial density with polymegathism and pleomorphism in both eyes.


Computed tomography scan showing normal adrenal glands.


18F-FDG PET/CT scan showed no uptake in the adrenal glands.


Mandibular occlusal radiographs showing multiple missing teeth along with the permanent tooth buds.


AP skull shows multiple lytic lesions in the frontal and parietal bones.


Exfoliative cytology showing multiple candidal hyphae.


After hospitalization, multiple papules with blotting of stomach.


Necrotic tissues of the patient in case report 2.


For the patient in the second case report, most of the scrotal skin and all of the penis skin were removed; this externalized the testes, epididymides, and cavernosa corpora.


Lateral.


Ventrodorsal. Radiographs of a black-legged seriema. The cloacolith is visible in caudal coelomic cavity. Observed as increased soft tissue density (arrows).


Two views (A and B) for the cloacolith removed from the black-legged seriema. The cloacolith measured approximately 4x3.7x3 cm.


Newborn with prominent neck swelling and X-ray of knee joint.


Clinical appearance of the postoperative wound on the patient's lower abdomen. The ulcer had been sutured at the emergency department of our hospital 3 days before the patient's first consultation with the department of dermatology (a).


Clinical appearance of the postoperative wound on the patient's lower abdomen. On admission at the department of dermatology 6 days later, the suture had completely disappeared (b).


Clinical appearance of the postoperative wound on the patient's lower abdomen. After VAC therapy, the abdominal ulcer rapidly became granulated and reepithelialized (c).


Clinical appearance of the patient's left arm on admission. The patient presented with multiple scars and previous skin grafts on the extremities as well as a missing left lower leg. She did not reveal details of the causes of these wounds.


Anterior view of neck.


Gingival overgrowth in relation the maxillary right quadrant.


Poikilodermatous changes on the face.


Sclera appeared icteric.


Medical image.


The dorsum of the hands revealed marked cigarette paper-like wrinkling. Intra oral view showing ulceration on buccal mucosa.


Orthopantomogram revealing mixed dentition period. Intraoral periapical radiograph of the affected region.


Postoperative view at the end of 3 months.


The patient in 2009.


Placement of a dental implant in the posterior right region of the mandible (a-c).


Periapical radiographs of the dental implants placed in mandible (positions # 19, 20, 30) (a-b).


Clinical photographs of the fixed prosthetic restorations on dental implants in positions # 30, 19 and 20 (a-b).


Clinical photographs of the patient's teeth and dental implants 5 years after dental implant placement.


Panoramic radiograph of the patient in 2015.


Panoramic radiograph of the patient in 2003.


Panoramic radiograph of the patient in 2005, after the placement of a dental implant in position #5.


Placement of a dental implant in the posterior right region of the maxilla (a-f).


Panoramic radiograph of the patient in 2010 after the placement of an additional dental implant in position #3.


Placement of a fixed prosthetic restoration on dental implants in positions #3 and 5 (a-f).


Placement of 2 dental implants in the posterior left region of the mandible (a-c).


The 3 month visit findings as documented by multimodal imaging. A; Color photograph of the right eye shows that the lesions now demonstrate central pigment hyperplasia with some surrounding depigmentation. Inset Microperimetry shows persistent central scotomas and slightly eccentric fixation. Visual acuity is 20/30 in the right eye.


The 3 month visit findings as documented by multimodal imaging. B; Fundus (488 nm) autofluorescence shows near normalization of the acute changes and underappreciation of the lesion boundaries in comparison with the infrared image.


The 3 month visit findings as documented by multimodal imaging. C; Infrared reflectance image shows high reflectivity of the macular lesions.


Visual field test at presentation. A remarkable upper temporal visual field defect and slight defect were observed in the right and left eye, respectively.


Visual field test at presentation at 1 month post presentation. Defect of visual fields was well improved although an only slight visual defect was left in the right eye.


Coronal sections of the repeated T1-weighted magnetic resonance images at 1 month post presentation. The herniation of the right optic nerve (arrow head) and gyrus rectus (*) improved.


Coronal sections of repeated. T1.


T2-weighted magnetic resonance images at 3 months post presentation. The bilateral optic nerves were cranially dislocated, resulting in remarkable expansion of the intrasellar cyst (arrow head). The contents of the cyst had a signal similar to signals of cerebrospinal fluid.


Brown color diamond shaped adherent scales on the upper limb and peeling of skin on the lower limb.


Case photograph of Sjogren-Larsson syndrome.


Radiograph of left forearm after plaster slab application.


Intra operative photograph showing radial shortening osteotomy fixed with dynamic compression plate and screws.


Intra operative photograph showing radial tubular intercalary auto graft placed in the gap after the excision of non-union of ulna.


Post-operative radiograph of left forearm showing in-situ radial plate and rush nail in ulna holding the intercalary bone graft in place.


Three years follow up radiograph of left forearm after the radial implant removal showing consolidation and incorporation of intercalary tubular radial graft in the ulna.


Interdigital pilonidal sinus of the right hand third web space.


(a) Histological examination in the first patient revealed a sinus tract, and multiple broken hair shafts. The sinus was surrounded by benign squamous epithelium, acute, and chronic inflammatory cells with foreign body giant cells. X40), (b) Histological examination in the second patient showed a sinus tract with multiple broken hair shafts, and . Foreign body type granulomas. X40).


CT of the chest remarkable for a new right lower lobe consolidation and re-accumulation of right-sided pleural effusion, with a background of emphysema, and peripherally oriented ground-glass opacities with sub-pleural sparing in the lungs, likely related to fibrosis.


12 lead electrocardiogram showing ST-segment elevation at V3-V4 with reciprocal changes at lead II and III.


Coronary angiography at the time of her presentation at the outline hospital. (a) Severe stenosis at mid right coronary artery.


Coronary angiography at the time of her presentation at the outline hospital. (b) Repeat angiography after nitroglycerin infusion with near complete resolution of the right coronary artery stenosis.


Coronary angiography at the time of her presentation at the outline hospital. (c) Moderate-severe stenosis at proximal left anterior descending artery.


Coronary angiography at the time of her presentation at the outline hospital. (d) Repeat angiography after nitroglycerin infusion with near complete resolution of the left anterior descending coronary stenosis.


Cardiac magnetic resonance imaging, (a) Mid ventricular short axis slice demonstrating transmural infarct (red arrows) of the anterior septum with evidence of microvascular obstruction (white arrows) on delayed gadolinium.


(b) Two-chambers view showing transmural infarction (red arrows) of the anterior septum with evidence of microvascular obstruction (white arrows) delayed gadolinium.


A; Lens partially subluxated into the anterior chamber. The crystalline lens is incarcerated in the pupil.


B; The whole corneal endothelium is touched by the iris and crystalline lens.


A; Dry vitrectomy was performed to get enough retrolental space and prevent sudden decreasing intraocular pressure after lens extraction.


B; Intracapsular lens extraction was performed with a lens spoon.


Sagittal.


Axial. Preoperative MRI showing epidural compression and circumferential vertebral involvement.


Brain MRI showing faint hyperintensity on Fluid Attenuated Inversion Recovery (FLAIR) images and positive diffusion-weighted (DWI) signal in the right lenticular and caudate nuclei, posterior insular and fronto-parietal cortex, without cortical atrophy or gadolinum enhancement.


Western Blot showing type 1 abnormal isoform of the prion protein (PrPSc) in both cingulate gyrus and cerebellum brain samples.


Pedigree chart for the presence of early-onset sensorineural hearing loss. Green: unaffected members; Red: affected members. Asterisk (*): individuals sequenced for genetic mutation.


Trends in serum sodium of our patient over the period of clinic follow-up.


The magnetic resonance imaging scan reveals two brain lesions.


Transesophageal echocardiogram showed a left atrial mass at the base of the posterior mitral valve leaflet with mobile fronds.


Intraoperative image: the tumor was found to obliterate the left atrial appendage and extended into the mitral valve annulus (yellow arrow).


Full-face photograph showing a generally debilitated state.


Intraoral photograph showing anterior palatal enlargement. Note displacement of the teeth in the related area.


Intraoral photograph showing swelling of the anterior alveolar part of the mandible and spacing of incisors are evident.


Radiograph of skull demonstrates "ground-glass" appearance of calvarium.


Panoramic radiograph showing expansion of both jaws with nearly homogenous or "ground-glass" trabecular pattern. Note the loss of cortical outline for the incisive nerve canal, poor definition of crestal bone, and inferior cortex of the mandible. The maxillary and mandibular lesions are not clearly distinguishable on this panoramic radiograph.


Intraoral radiograph showing loss of lamina dura of maxillary anterior teeth.


Intraoral radiograph showing loss of lamina dura of mandibular anterior teeth.


Full-face photograph showing improvement in overall clinical status.


Radiograph of skull showing improvement of the "ground-glass" appearance of calvarium.


Panoramic radiograph showing improvement of the pattern of trabecular bone.


Intraoral radiograph showing restoration of lamina dura of maxillary anterior teeth.


Intraoral radiograph showing restoration of lamina dura of mandibular anterior teeth.


Intraoral photograph of maxillary lesion showing healing with a small residual deformity.


Intraoral photograph of mandibular lesion showing healing.


(a and b) Radiograph showing resolution of metastatic calcifications and resolution of subperiosteal resorption of the phalanges.


Ichthyosis linearis circumflexa of the right thigh and lower leg.


Trichorrhexis invaginata with "bamboo appearance" seen on trichoscopy.


Front view of the child's chest before the first operation.


Three-dimensional reconstruction computed tomography scan of the chest after the second operation; anteroposterior view.


Front view of the child's chest 9 months after the second implant removal operation.


Lateral view of the child's chest 9 months after the second implant removal operation.


Left lateral view of the child's chest before the first operation.


Three-dimensional reconstruction computed tomography scan of the chest 5 months before the operation; left lateral.


Computed tomography scan of the chest 5 months before the operation demonstrates the lung compression.


Contoured mandible locking plates used in the first operation.


Three-dimensional reconstruction computed tomography scan of the chest after the first operation; anteroposterior view.


Three-dimensional reconstruction computed tomography scan of the chest after the first operation; axial view. Note the restored anterolateral contour of the chest.


Front view of the child's chest before the second operation.


Front view of the child's chest immediately after the second operation (correction of the bell-shaped chest wall).


The motor nerve conduction velocity in the left ulnar and median nerves was reduced to 24 and 28 m/s, respectively. The sizes of the compound muscle action potential of the left median nerve were 1.40 mV at the wrist and 0.74 mV at the elbow; the F wave of both nerves was not evoked.


Brain magnetic resonance image on day 22 of the illness. Fluid-attenuated inversion recovery intensity.


Brain magnetic resonance image on day 22 of the illness. Diffusion-weighted. Images reveal high-intensity lesions in the bilateral thalamus and medial temporal lobes.


(A) Coronal post contrast T1-weighted image showing pituitary enlargement with dome-shaped convexity.


(B) Coronal post contrast T1-weighted image showing lesion disappearing 6 months after levothyroxine supplementation.


(A) Coronal post contrast T1-weighted image showing dome-shaped superior convexity of the pituitary prior to starting levothyroxine therapy.


(B) Post coronal T1-weighted image showing post-levothyroxine therapy depicting total resolution of the thyrotroph hyperplasia and obliteration of the "dome.


Preoperative coronal T1-weighted image depicting similar pituitary enlargement as in Figures 1 and 2.


Microphotography showing important calcium deposits in vessels lumen with intimal fibroblastic proliferation (HE, 100X).


Microphotography at higher magnification showing the marked calcium deposits with an advanced diabetic microangiopathy (HE; 200X).


Positive deck-chair-sign (arrows) skin eruption on the trunk of patient 1 , who was found to have Sezary syndrome.


On the trunks of patients 2-5 , who were diagnosed with mycosis fungoides / cutaneous T-cell lymphoma with evidence of blood involvement.


Clinical examination of the patient revealed:. Facial disharmony.


Exorbitism.


Hypoplasia of midface.


Class III occlusion.


Narrowed upper dental arch.


Impaired lower dental arch.


Ophthalmological investigation of the patient revealed:. Strabismus.


Proptosis.


Medical image.


Exophthalmos.


Preoperative virtual planning:. Anterior craniotomy.


Facial bones osteotomy.


Circular osteotomy.


Vomer osteotomy.


Pterygo-maxillary disjunction.


Preoperative virtual planning:. Monobloc advancement.


Distractors positioning.


Surgical procedure:. Exposure of cranial skeleton.


Access to anterior cranial fossa.


Orbital roof osteotomy.


Lateral orbit osteotomy.


Postoperative computed tomography scan: Comparative computed tomography scan proves proper monobloc advancement.


(A, B) In thyroid echography, both lobes of the thyroid gland were swelling although increase of blood flow was not observed.


(C, D). In brain magnetic resonance imaging, there was a giant tumor (51 x 34 x 22 mm) around pituitary fossa, pressuring on optic chiasm from the middle. Bilateral internal carotid arteries were surrounded by the tumor, and infiltration into the cavernous sinus was observed.


(A) Time course of GH and IGF-1 levels for 6 years. After the diagnosis of GHoma and TSHoma, pituitary tumor resection was performed. After about 1 year later, cyber knife therapy was performed together with the treatment with somatostatin analog and GH receptor antagonist. After these therapies, GH and IGF-1 levels were suppressed for a long period of time.


(B) Time course of TSH, FT3 and FT4 levels for 6 years. After the operation, since thyroid function was not sufficiently suppressed, we started the treatment with anti-thyroid drug thiamazole. Since thyroid function was normalized after about 3 years later, we stopped the treatment with thiamazole. After then TSH, FT3 and FT4 levels were not increased for a long period of time.


Herpetic lesions in the right ear.


Facial nerve palsy with Bell's phenomenon and loss of nasolabial fold.


Preoperative MRI showing a sellar mass lesion with less enhancement with gadolinium (a).


Postoperative T1- weighted postcontrast image showing complete tumor removal with preservation of the pituitary gland and stalk (b).


Skull X-ray showing prominence of the jaw and mild frontal bossing (c).


Hand X-ray revealing cauliflower appearance at the distal phalanx of the hands (d).


Intraoperative photographs. The stretched anterior pituitary lobe had covered the tumor (a).


Intraoperative photographs. The tumor was resected in a double-suction technique intracapsularly (b).


Intraoperative photographs. The pseudocapsule was resected following internal debulking of the tumor (c).


Intraoperative photographs. A fat graft was packed into the cavity with a dural stitch following tumor resection (d).


Neck ultrasound and 99mTc-sestamibi scintigraphy performed on admission and 8 months after parathyroid apoplexy. (A) Baseline neck ultrasound showed a solid and hypoechoic 8 mm nodule located behind the right thyroid lobe (arrow).


Neck ultrasound and 99mTc-sestamibi scintigraphy performed on admission and 8 months after parathyroid apoplexy. (B) Baseline 99mTc-sestamibi scintigraphy showed an area of increased uptake (arrow).


Neck ultrasound and 99mTc-sestamibi scintigraphy performed on admission and 8 months after parathyroid apoplexy. (C) Follow-up neck ultrasound performed 8 months later notice the near complete disappearance of the nodule.


Neck ultrasound and 99mTc-sestamibi scintigraphy performed on admission and 8 months after parathyroid apoplexy. (D) Follow-up 99mTc-sestamibi scintigraphy performed 8 months later showing a marked reduction of the uptake, although residual activity was still noticeable.


Serum levels of total calcium and parathyroid hormone (PTH). The x-axis shows the calendar time and the boxes above the graph show the treatments. Assessments were made at several time points before, during and after cinacalcet treatment. Note the marked decline in PTH and total calcium (arrow) occurring about a month after cinacalcet reached the 180 mg/dl daily dosage.


Morphological appearance of the fine-needle aspirate of the patient's parathyroid nodule. Note the presence of necrotic debris and inflammatory cells mainly consisting in neutrophils (black arrow), macrophages (white arrow), and lymphocytes (arrowhead). Original magnification 20X.


Time course of the clinical parameters, diagnosis, and treatment for this subject. Firstly, about 4 weeks after starting nivolumab monotherapy for malignant melanoma, he suffered from destructive thyroiditis, and so we started replacement therapy with levothyroxine. Secondly, about 4 weeks after starting combination therapy of nivolumab and ipilimumab, he suffered from aseptic meningitis. Thereafter, we stopped both drugs and started steroid therapy with prednisolone. Finally, about 9 months after starting nivolumab, he suffered from isolated adrenocorticotropic hormone (ACTH) deficiency, and so we started replacement therapy with hydrocortisone.


Cerebral tissue oxygenation declines and renal tissue oxygenation increases after ductus ligation to reach a normal somatic-cerebral difference, which is maintained 9 h before rSrO2 decreases significantly and somatic-cerebral difference is inverted (blood flow redistribution). Once Milrinone is started, rSrO2 recovers as well as somatic-cerebral difference. When monitoring finishes, renal and cerebral tissue oxygenation are normal and somatic-cerebral difference is preserved.


After ligation, cerebral and renal tissue oxygenation increase. Echocardiographic reassessment (which coincides with an inverted somatic-cerebral difference) reveals low LVCO. After Milrinone starts renal tissue oxygenation increases slowly. Somatic-cerebral difference is preserved when echocardiographic re-evaluation shows a normal LVCO.


Bilateral cornea opacity, broadening of the nose base and microcephaly.


Polydactyly with camptodactyly and clinodactyly of the supernumerary finger.


Umbilical hernia with hypochromic macules of the abdomen.


Supernumerary toe with hypertrophy of the hallux.


Gadlinium-enhanced pituitary MRI (T1-weighted images). . Note: These images showed no enlargement of the pituitary gland or enhancing effect abnormality (white arrow). . Abbreviation: MRI, magnetic resonance imaging.


Orthopantomogram.


Previous computed tomography.


Current computed tomography.


Paranasal sinus - skull.


Chest X-ray.


Extraoral examination.


Cone beam computed tomography.


Cone beam computed tomography-three-dimensional image.


Cone beam computed tomography-three-dimensional view.


Bony window created on posterior antral wall.


Enucleation.


Enucleation - mandibular lesion.


Enucleated lesions from maxilla and mandible.


Satellite cyst.


Histopathologic slide view.


Pre-operative anteroposterior pelvic X-ray. Pre-operative anteroposterior pelvic X-ray that depicts the severe left hip osteoarthritis with the marked destruction of the femoral head, dysplastic acetabular roof, a large irregular osteophyte on the roof of the acetabulum, widening of the femoral metaphysis, and coxa valga.


Pre-operative profile X-ray of the left hip.


Pre-operative computerized tomography on the transverse plane. Pre-operative computerized tomography at the transverse plane showing the hypoplastic walls, narrow acetabulum, limited bone substrate, irregular osteophyte, small transverse diameter of the intramedullary canal, and anteversion of the socket and proximal femur.


Pre-operative computerized tomography on the coronal plane. Pre-operative computerized tomography at the coronal plane showing the hypoplastic walls, narrow acetabulum, limited bone substrate, irregular osteophyte, small transverse diameter of the intramedullary canal, and anteversion of the socket and proximal femur.


Post-operative anteroposterior pelvic X-ray of the 1stpost-operative weeks.