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.


Post-operative lateral left hip X-ray of the 1stpost-operative weeks.


Post-operative anteroposterior pelvic X-ray at 5 years.


Post-operative lateral hip X-ray at 5 years.


Computed tomography scan of clavicles. Erosion in right clavicle (white arrow).


Bone-scintigraphy findings showed intensive uptake of 99mTc at the sternoclavicular joints and sternum, called a "bull's head" sign.


(A,B) Physical examination of the patient's upper limbs showed hypotrophy of the right tenar eminence, of the extensor muscles of the fingers bilaterally, of the common extensor muscles of the fingers, with thinning of the dorsal face of the forearm, more evident on the right. Furthermore, over time, a characteristic "claw posture" of hands has become evident, more on the left side than on the right, limiting daily activities.


Cervical MRI of the neck in antero flexion, which does not show the hallmark of HD, ie, the forward movement of the posterior wall of the inferior cervical dural sac (2015).


Vertebral column in hyperlordotic attitude, with fulcrum in C3-C4, where there are concomitant arthrosis of the posterior apophyseal; forward displacement of the spinal cord in the C1-C2 tract, which, in a neutral attitude of the neck in orthostatism, laps the posterior profile of the district ligamentous-meningeal component (2017).


Normal eye, OD.


B-scan of both eyes. Longitudinal.


Transverse of OS showing diffuse choroidal thickening, and internal reflectivity representing a diffuse choroidal hemangioma with peripheral retinal detachment.


Normalization of CD4:CD8 ratio followed by increase of CD3+ donor chimerism after alloHSCT confirming graft-vs-Sezary effect.


(A) Intraretinal crystalloid deposits are observed in the right fundus image.


(B) Intraretinal crystalloid deposits are observed in the left fundus image.


Fundus fluorescein angiography of the right eye shows hypofluorescent patchy areas due to choroidal sclerosis.


(A) Hyperreflective dots in the intraretinal layers and in the retinal pigment epithelium layer are observed in the optic coherence tomography of the left eye.


(B) Corneal subepithelial hyperreflective deposits are observed in the anterior segment optic coherence tomography of the right eye.


Gynecomastia.


Almond shaped eyes with esotropia.


Fluorescence in situ hybridization.


Pre treatment - ulcers, hemorrhagic erosions in the trunk, face (Case 1).


Pre treatment - ulcers in theupper and lower lip (Case 1).


Post treatment - Skin lesions resolved (Case 1).


Post treatment - Oral mucosal lesions resolved (Case 1).


Pre treatment - ulcers in the tongue (Case 2).


Pre treatment - ulcers in the upper lip (Case 3).


Pre treatment - ulcers in the lower lip (Case 3).


Post treatment - lip lesions resolved (Case 3).


Pre treatment - ulcers and hemorrahagic lesions on the face (Case 4).


Pre treatment - ulcers on buccal mucosa (Case 4).


Pre treatment - ulcers on tongue (Case 4).


Lateral skull projection reveals mandibular prognathism (white arrow), maxillary hypoplasia, copper beaten appearance, and enlarged hypophyseal cavity (black arrow).


Anteroposterior spine radiograph shows decreased intervertebral space between C5 and C6 (black arrow).


Paranasal sinus view shows prominent convolution markings suggestive of copper beaten appearance (black arrow).


Three-dimensional (3D) computed tomographic images of skull show increased circumference of the skull.


Computed tomography (CT) image of the skull shows moderate degree of hydrocephalus with diffuse indentation of inner table of skull (black arrow).


Preoperative PET/CT displayed a right paramediastinal mass infiltrating the sternal body.


Titanium mesh resting on a titanium support plate.


T1-weighted sagittal image of a 2-year-old girl. Note the hypoplastic pons and cerebellum with normal appearance of the corpus callosum.


Multimodal imaging findings in a patient with posterior cortical atrophy at baseline and follow-up investigations. (Left) Positron emission tomography (PET) with F18-fluorodesoxyglucose (FDG-PET) reveals decreases in glucose metabolism: upper row in the patient (SUV standardized uptake value), second row compared to a healthy control cohort using NEUROSTAT/3D-SSP software (https://neurostat. Neuro. Utah. Edu). Bottom rows show amyloid-beta accumulation in patient's individual F18-florbetaben PET scan compared to a healthy control cohort using Hermes BRASS software (Hermes Medical Solution, Stockholm, Sweden). (Right) Structural magnetic resonance imaging (MRI), T1 sequence, illustrating atrophy. Note that Capgras delusion was firstly evident between third and fourth follow-up. L, left; R, right.


Extracting functionally impaired brain networks by mapping atrophy to resting-state networks and functional co-activations. (Top) Graphical representation of the clusters of brain atrophy timely associated with the emergence of Capgras delusion, ie, right posterior cingulate gyrus/precuneus, and middle frontal gyrus/frontal eye field. Coordinates of the maxima for each of the two clusters are reported in MNI space in the figure: x, y, z 4, -32, 44, and 28, 0, 52. (Middle) Results of the meta-analytic co-activation modeling (MACM) across >14,000 fMRI studies from the Neurosynth database (https://neurosynth. org/). Red blobs represent z-scores after correction for false discovery rate (FDR). (Bottom) Results of the seed-based resting-state functional connectivity analysis on an independent sample of N = 1,000 healthy controls generated with Neurosynth. Red blobs show Pearson's correlations with the seed, thresholded at r >= 0.2, uncorrected. Images are displayed in radiological convention. Left of the figure displayed on the right of the image.


Axial T2-weighted MR-image (A) shows an area of abnormal signal intensity (bone involvement) in the sternum with associated right parasternal soft tissue component. The soft tissue mass has a lobulated morphology, is well defined and has a high signal intensity.


Axial T1-weighted images after intravenous gadolinium contrast administration (B) show a heterogeneous lesion with peripheral enhancement and central areas of low signal intensity, corresponding to areas of necrosis.


Axial CT-images at the time of diagnosis (C) show an abnormal density in the sternum with large soft tissue component.


Follow-up CT after neoadjuvant chemotherapy (D) shows prominent shrinkage of the mass.


Follow-up CT after surgery (E) shows normal postoperative findings after partial sternal resection and reconstruction.


Sternal biopsy. HE stain (4x magnification) shows tumour cell infiltration between muscle fibres (A).


Sternal biopsy. HE stain (40x magnification) shows a high-grade population of 'small blue round cells', compatible with Ewing's sarcoma (B).


Cross section scheme of the sternal reconstruction with coronal plane.


Axial plane A layer of methyl methacrylate was sandwiched between two layers of a polypropylene mesh and sutured to the remaining ribs and muscles with polypropylene 3-0.


Intraoperative images of the resected sternal body incorporating the major pectoral muscles.


The large defect of the anterior chest wall after resection.


Sternal reconstruction by a methyl methacrylate sandwich graft.


Comparison of the preoperative situation, which shows a small scar from the sternal biopsy at the presternal area.


To the result four months after sternum resection and reconstruction by a polypropylene - methyl methacrylate sandwich graft and a pedicled myocutaneous latissimus dorsi flap.


Extended family tree illustrating the transmission of Gitelman syndrome over five generations. Males and females are indicated by squares and circles, respectively. Affected subjects are represented by dark symbols. The index patient is V.3.


Histopathology of the gastric biopsy showing several small noncaseating epitheloid cell granulomas (arrow head).


Histopathology of the endobronchial biopsy showing numerous small noncaseating epitheloid cell granulomas (arrow head).


Computed Tomography (CT) showing hilar lymphadenopathy.


Frontal view of the patient showing mandibular swelling.


Intraoral view showing missing lower canines.


Orthopantomograph showing multiple cysts in maxilla and mandible.


Lower occlusal view showing radiolucency and impacted teeth.


Lateral skull view showing bridging of the sella turcica.


CT, axial view showing multiple cystic lesions in maxilla.


CT, axial view showing extensive cystic lesion in mandible.


Bifid third rib on the right side with dextrocardia.


CT, axial view showing calcification of falx cerebri.


CT, axial view showing calcification of tentorial cerebelli.


CT, axial view showing bifid spine, cervical and thoracic vertebrae.


Ultrasonographic image showing spleen in right hypochondrium.


Ultrasonographic image showing left hypochondrium.


Ultrasonographic image showing transposition of great vessels.


Multiple palmer pits.


(a) 180. Of zonular loss with temporal subluxation of lens in right eye. Diffuse pigments on zonules are visible.


(b) Presence of Krukenberg's spindle and a faint Zentmayer's line.


(a) 180. Of zonular loss with temporal subluxation of lens in left eye.


(b) Presence of Krukenbergoes spindle.


H&E staining of skeletal muscle transverse section performed at the age of 14. Rare atrophic fibers and few centralized nuclei were present.


Radiograph-OPG.


Photographs of the infant showing. Hypertelorism.


Median cleft palate. A fleshy mass is seen through the defect.


The panel of sagittal. T1W.


Medical image.


T1W fat-suppressed MRI imags reveals tubo-mamillary fusion (thin white arrows). A large craniopharyngeal canal is seen with a nasopharyngeal mass at its caudal end (solid arrows). The mass is heterogeneously hyperintense on both T1W and T2W images, with signal loss on fat-suppressed images.


Coronal T1W.


T2W MRI images show duplication of the pituitary gland with two pituitary stalks (thin white arrows) and neurohypophyseal "bright" spots (thick white arrows). The optic chiasma is also widened. The floor of the third ventricle is thickened and there are two infundibular recesses (arrows).


T2W axial.


Maximum intensity projection (MIP) MRI images show duplication of the basilar artery. The superior cerebellar and posterior cerebral arteries are seen originating from the respective ipsilateral basilar artery.


(C and D) T2W coronal MRI images show hypoplasia of bilateral olfactory bulbs/tracts (thin white arrows) and anterior clefting of the cervical vertebrae.


B-mode US shows a solid nodule measuring 16x12x10mm in the upper right lobe of the thyroid with peripheral and central calcifications.


PTC cells are immunoactive for CK 19 (x40 HE).


Surgical specimen after surgery.


Two hours after surgery the patient was detected to have right-sided partial.


Conventional Papillary Thyroid Carcinoma. The papillae are composed of a central fibrovascular stalk covered by a neoplastic epithelial lining. The nuclei of the neoplastic cells show changes in size and shape, irregularities of the membrane and often overlapping (x100 HE).


Conventional Papillary Thyroid Carcinoma. The papillae are composed of a central fibrovascular stalk covered by a neoplastic epithelial lining. The nuclei of the neoplastic cells show changes in size and shape, irregularities of the membrane and often overlapping (x40 HE).


PTC cells are immunoactive for GAL 3 (x100 HE).


Magnetic resonance imaging (MRI) images of the current presentation. Preoperative T1-weighted images reveal a large recurrent pituitary macroadenoma with minimal patchy enhancement after gadolinium injection (a and b).


Magnetic resonance imaging (MRI) images of the current presentation. Postoperative T1-weighted images with contrast revealed near total excision of the adenoma (c and d).


Intraoperative views during endoscopic endonasal transsphenoidal tumor excision. (a) Bluish discoloration of the dura caused by apoplexy of the underlying tumor is evident at the initial exposure.


Intraoperative views during endoscopic endonasal transsphenoidal tumor excision. (b) Dark blood (asterisk) is seen on initial dural opening.


Intraoperative views during endoscopic endonasal transsphenoidal tumor excision. (c) View of the necrotic purple adenoma tissue being resected from within the sella.


Intraoperative views during endoscopic endonasal transsphenoidal tumor excision. (d) A pituitary ring curette elevates the downward bulging cistern and a pituitary Rongeur is used to excise the superior part of the tumor.


Intraoperative views during endoscopic endonasal transsphenoidal tumor excision. (e) The uppermost tumor components (double asterisks) have been separated from the arachnoid of the suprasellar cistern.


Intraoperative views during endoscopic endonasal transsphenoidal tumor excision. (f) Final view after tumor resection. Note the fat from previous surgery (arrowheads).


Acne and facial hair.


Enlarged penis with scant pubic hair. In a 6-year-old boy, showing signs of precocious pseudo-puberty as shown on both cases.


Advanced bone age of Case 2 (C).


Ultrasound of the testicles of Case 1.


Case 2.


Macroscopic anatomy findings of the left testis from the patient of Case 1.


Case 2 Note a well circumscribed yellowish-brownish mass inside the testis.


OD fundus. A; Initial visit: optic disc hyperemia and edema and several yellowish subretinal lesions located in the posterior pole and lower midperiphery.


OD fundus. B; After 6-month therapy: decreased optic disc hyperemia and edema and increased choroidal granulomas.


OD fundus. C; After 18-month therapy: decreased choroidal granulomas.


OS fundus. A; Initial visit: optic disc hyperemia and edema and several yellowish subretinal lesions located in the posterior pole and lower midperiphery.


OS fundus. B; After 6-month therapy: decreased optic disc hyperemia and edema and increased choroidal granulomas.


OS fundus. C; After 18-month therapy: decreased choroidal granulomas.


Chest X-ray. Chest X-ray showing a suspicion of hilar lymphadenopathy, especially on the left-side.


Histopathology. Histopathology of mediastinal lymph node, stained with hematoxylin-eosin, showing non-caseating granulomatous inflammation and multinucleated giant cells.


The histopathological features of the tumor. Hematoxylin and eosin staining of the tumor Scale bars: 50 mum.


The histopathological features of the tumor. And the outer surface of the temporal bone The tumor infiltrated some of the marrow cavities (black arrows in [b]), but not others (white arrow in [b]). The black arrowheads in (b-d) show the surface of the temporal bone. ; 200 mum.


The histopathological features of the tumor. And the outer surface of the temporal bone The tumor infiltrated some of the marrow cavities (black arrows in [b]), but not others (white arrow in [b]). The tumor invaded the compact bone The black arrowheads in (b-d) show the surface of the temporal bone. Scale bars: 50 mum.


The histopathological features of the tumor. And the outer surface of the temporal bone The tumor infiltrated some of the marrow cavities (black arrows in [b]), but not others (white arrow in [b]). And infiltrated the marrow cavities under the thin compact bone The black arrowheads in (b-d) show the surface of the temporal bone. Scale bars: 50 mum.


Outcomes obtained 12, 44, 62, and 134 days after the completion (the second adipose SVF injection) of treatment of the HGPS patient.


Extraoral view showing frontal bossing, hypertelorism, wide nasal bridge, and ,macrostomia.


Profile view showing cochlear implant, and ,beak-shaped nose.


Intraoral view showing oligodontia, and ,ankyloglossia.


Lower limbs showing missing toes and syndactyly.


Orthopantomogram showing agenesis of multiple permanent teeth.


Foot-ankle radiograph of the left foot showing agenesis of toes, and ,syndactyly.


Karyotype showing normal cytogenetic profile.


Right eye fundus photograph shows large cotton-wool spots in a peripapillary distribution as well as a heterogeneous pattern of grey translucency with periarterial sparing in the macula.


A horizontal spectral domain optical coherence tomography scan of the right eye was taken at foveal center, revealing an increase of the inner layer reflectivity and generalized inner retinal thickening.


Right eye widefield fluorescein angiography shows delayed choroidal filling, taken 43 seconds after administering the dye.


Right eye widefield fluorescein angiography shows peripheral pigmentary degeneration, discrete leakage and staining of the optic disc and peripapillary arterioles, taken 70 seconds after dye administration.


Right eye fundus photograph 4 weeks after initial presentation shows normal retinal characteristics.


Anterior segment photograph of the patient's right eye.


Cataract, a retrolental vascularized mass extending from the optic disc to the posterior lens capsule, and depression and enlargement of the optic disc in the right eye by Doppler ultrasonography.


The elongation of ciliary processes was demonstrated.


Limb asymmetry with right-side predominance.


Cutaneous (port wine) hemangioma of the right side of the neck and face.


Photograph of the patient revealing extensive left-sided facial atrophy.


Photograph showing left-sided tongue atrophy.


Magnetic resonance imaging cranium T2 FLAIR image demonstrated normal study.


Facial nerve stimulation on both sides revealing minor differences in latency and amplitudes.


No gross abnormality on blink reflex.


A; Clinical findings before surgery. Erythematous lesion on the patient's genital and hemorrhagic tumor on the right labia major.


B; Local recurrence around the postoperative scar (black arrowhead).


C; Skin metastasis before docetaxel therapy (white arrowhead).


D; CT revealed multiple lung metastases.


Phenotypic characteristics of Kabuki Syndrome at 18-years-old include eversion of the lower eyekid, enlongates eyelid closurem arched eyebrows, long eyelashes and nasal tip facing down.


Brain Magnetic Resonance Imaging (MRI) in axial contrasted T1.


Medical image.


Flair.


Diffusion Note: There are some artefacts on (d and e) images due to magnetic susceptibility by the dental appliance.


Apparent Diffusion Coefficient Hyperintense T2 lesion on right posterior white matter unattended signal alteration or contrast enhancement on T1 or diffusion restriction. It is a quite unspecific, may suggesting a possible gliosis probably due to another (previous) ischemic injury. Note: There are some artefacts on (d and e) images due to magnetic susceptibility by the dental appliance.


One year postoperative axial.


Sagittal.


A coronal. T1-weighted MR images showing no evidence of recurrence or abnormal findings in the supratentorial region.


Two years postoperative axial.


A coronal. T1-weighted MR images with gadolinium detecting a solid mass with strong enhancement in the right cerebellar hemisphere (yellow arrow) and an hyperintense extra-axial solid mass located at posterior part of the falx (green arrow).


Histological images of meningothelial meningioma showing syncytial clusters of meningothelial cells.


Clinical photograph showing massive scapular swelling.


Clinical photograph showing skull vault swelling in the frontoparietal region.


Pre-treatment radiograph of right shoulder showing a sclerotic lesion of scapula with loss of definition of margins of scapula and soft tissue mass.


Lateral radiograph of skull vault showing an osteolytic lesion with erosion of inner and outer tables associated with sutural diastasis and periosteal reaction.


Clinical photograph showing significantly reduced scapular swelling (post treatment).


Radiograph of right shoulder showing extensive sclerosis of the lesion after chemoradiation.


Post-treatment lateral radiograph of skull vault showing sclerosis in and around the lesion. The sclerosis seems to be bridging the diastasis.


Left type 3 triorchidism with common vas and separate epididymis. Cranial testis,. Caudal testis, C. Common vas D. Inguinal incision E. Hernia sac.


Left polyorchidism with separate epididymis and vas. Abdominal testis,. Atrophic inguinal testis, C. Inguinal incision with visible internal ring D. Contra-lateral descended testis.


Skull radiograph:multiple lytic areas.


Longitudinal evolution of calcemia.


MRI images. MRI images (1.5 tesla): (A,B) Sagittal sections in the T1-weighted MRI images: global cerebellar atrophy with a marked enlargement of the subarachnoid space, thinning of cerebellar folds and vermis (arrow) related to diffuse cerebellar atrophy.


MRI images. (C) Axial section in the T1 sequence: cerebral white matter and ventricles without alterations.


NSD1 gene sequencing. Exon 2 sequence of the NSD1 gene (superior: normal; inferior: patient sequence) showing the deletion of adenine (blue arrow) at position 247 (c.247delA), which has an effect on the protein and generates a premature stop codon at amino acid 87 (red box).


MRI brain coronal T1 weighted postcontrast images reveal heterogeneously contrast enhancing hyperintense sellar and suprasellar mass lesion extending laterally into cavernous sinuses and encasing both internal carotid arteries. Diffuse calvarial thickening and expansion in right high parietal region is also present.


MRI brain sagittal T1 weighted post contrast images reveal heterogeneously contrast enhancing hyperintense sellar and suprasellar mass lesion extending superiorly up to the floor of the third ventricle and pushing the optic chiasma superiorly and anteriorly.


The whole body 99m-Tc-MDP bone scan image reveals multiple regions of intense activity on the right side of the skull, mandible, right humerus, scapula, hemi pelvis, femur and tibia. Foci of increased uptake were also present in the lumbar spine and the left humerus.


X-ray pelvis AP view showing expensile radiolucent lesion with sclerotic foci in neck and metaphysis of B/L femur with sephered cook deformity on left side.


A plain X-ray film lateral view shows extensive involvement of skull base with thickening and sclerotic changes.


A. Facial phenotype of patient with midface hypoplasia, broad and prominent front, mild hypertelorism, strabism, broad nasal bridge, long and smooth philtrum, thin upper lip.


B. Posteriorly rotated ears and prominent antihelix.


A. Feet with brachydactyly and severe bilateral hallux valgus.


B. Metatarsal shortening and hypoplastic phalanges of all toes. Most notable is the thumb, which presents with valgus deviation of the last phalange.


Array CGH of the patient. Array Agilent SurePrint G3 Human CGH microarray kit, 8x60K 46,XY. array [GRCh37/hg19] 7p15.3p14.3(22574164_35288260)x1dn (12,714,097 bp).


T1 sagittal MRI. Adenohypophysis is morphologically not definable, therefore, aplasia is suspected. The neurohypophysis presents as punctuate signal enhancement midsize of the hypophysis stem.


The 10 years old girl with developmental delay, FTT, mental retardation and strabismus.


The 3.5 years old boy with bilateral abducens nerve palsy and developmental delay.


A: The pedigrees of case 1 and case 2. Arrows indicate the probands of each family.


B: Chromatograms showing sequence changes. The left chromatogram from case 1 (left) shows the aberrant 'C' peak, which is slightly larger than the normal 'T' peak (c.14590T>C). The right chromatogram from case 2 shows a normal 'G' peak, which is larger than the aberrant 'A' peak (c.14678G>A).


Muscle sections from case 1. Multiple peripheral and central cores are characterized by an inexplicit ovoid shape and indistinct borders. Nicotinamide dehydrogenase-tetrazolium reductase stain, x200.


Muscle sections from case 1. Multiple peripheral and central cores are characterized by an inexplicit ovoid shape and indistinct borders. Cytochrome C oxidase, x200).


Muscle sections from case 1. All of the muscle fibers were of type 1. Adenosine triphosphatase, pH 4.4, x200).


Muscle sections from case 1. D: Electron micrograph showing a core region lined by arrowheads. The myofibrils are disorganized (arrows) compared with those within intact fibers.


Muscle sections from case 2. These slides exhibit peripheral and central cores. Nicotinamide dehydrogenase-tetrazolium reductase, x200.


Muscle sections from case 2. These slides exhibit peripheral and central cores. Cytochrome C oxidase, x200).


Muscle sections from case 2. C: Staining with adenosine triphosphatase (pH 4.4, x100) reveals selective type-1 fiber atrophy.


Muscle sections from case 2. D: Electron micrograph showing a core region (arrows) characterized by disruption of the myofibrillar organization.


MRI brain axial section flair image showing bilateral parietoccipital hyperintense signals.


MRI brain coronal section flair image showing bilateral parietoccipital hyperintense signals.


(a) Axial trans abdominal USG image showing right (RH) and left (LH) uterine horns.


A hypoechoic lesion (M) is seen caudally.


Sagittal trans abdominal USG image showing endometrial cavity of the right uterine horn (RH) communicating with the hypoechoic lesion (M). Sagittal USG image directed further caudally shows the hypoechoic lesion to be an ovoid fluid collection with internal echoes, located posterior to the urinary bladder. It appears to end slightly above the introitus.


Trans labial sagittal USG image confirms that the collection (C) ends 1.5 cm above the introitus.


(a) Coronal Single shot T2W image shows absence of the right kidney. The distended hemivagina (asterisk) is seen on the right side and the normal collapsed left hemivagina with minimal fluid is seen adjacent to it (black arrow). The distended hemivagina ends above the introitus and its contents are hypointense to fat.


(b) Coronal Single shot T2W image shows right and left uterine horns (white arrows). The right uterine horn cavity is seen to communicate with the upper end of the fluid collection in right hemivagina (small black arrow).


(a) Axial T1W image of the pelvis shows bright signal intensity of the right hemivaginal collection (asterisk).


The collapsed left hemivagina is seen adjacent to it (arrow) (b) Axial fat saturated T2W image of the pelvis showing right hemivaginal collection (asterisk) and collapsed left hemivagina with minimal fluid (arrow).


Diagrammatic representation of anatomy of patient showing OHVIRA syndrome.


Medical image.


Intraoperative photograph showing smooth bulge (black arrow) in medial wall of patent left hemivagina caused by right hematohemicolpos. Intraoperative photograph of septoplasty procedure showing drainage of altered blood.