shwaehman syndrome, next to cystic fibrosis, is the second cause of congenita! exocrine pancreatic insufficiency in children. it appears as steatorrhea, recurrent infections and hematologic abnormalities such as neutropenia, skeletal dysplasia and short stature. in this study, we reviewed 3 patients' histories. all of them showed cellular chemotaxic defect. one of them had been affected by neph...

Ellis-van Creveld syndrome (EvC; OMIM 225500) is a recessive disorder comprising chondrodysplasia, polydactyly, nail dysplasia, orofacial abnormalities and, in a proportion of patients, cardiovascular malformations. Weyers acrodental dysostosis (Weyers; OMIM 193530) is an allelic dominant disorder comprising polydactyly, nail dysplasia, and orofacial abnormalities. EvC results from loss-of-func...

Anderson-Fabry disease (AFD) is a rare cause of end-stage renal disease (ESRD). Renal pathology in AFD is notable for diffuse deposition of glycosphingolipid in the renal glomeruli, tubules, and vasculature. Light microscopic findings include a “foamy” appearance of the glomeruli with diffuse swelling and vacuolization of visceral podocytes. Electron microscopic findings show podocytes and mesa...

PURPOSE To compare the localization and density of collagens I, IV, VI, and elastin, the major protein components of connective tissue, in the inferior oblique muscle of patients with overelevation in adduction and in controls and to characterize changes that develop following surgery. Biomechanical studies suggest that the connective tissue matrix plays a critical role in extraocular muscle fu...

poisoning remains a major cause of hospital admission into the emergency department and intensive care unit. proper diagnosis is the cornerstone for optimal management of poisoned patients. since the definitive analytical confirmation of the nature of the toxicant involved in the poisoning cannot be rapidly obtained in the majority of healthcare facilities, diagnosis relies on the medical histo...

klinefelter syndrome includes a group of chromosomal disorders with at least one  additional  x  chromosome  in  male  karyotype  (46,xy).  up  to  now, different dental manifestations such as taurodontism, congenital absence of permanent teeth, shovel incisors, occlusal anomalies and increased permanent tooth size have been reported. a case of klinefelter syndrome with very rare dental feature...

We describe a patient with a phenotype characterized by mandibulofacial dysostosis with severe lower eyelid coloboma, cleft palate, abnormal ears, alopecia, delayed eruption and crowded teeth, and sensorioneural hearing loss. The karyotype and the screening for mutations in the coding region of TCOF1 gene were normal. The clinical signs of our case overlap the new mandibulofacial dysostosis des...

A mouse melanoma cDNA clone was isolated by virtue of its reactivity with two antisera raised against tyrosinase (EC 1.14.18.1) from two species, hamster and mouse. The cDNA (5A) cross-hybridizes with another, pMT4 [Shibahara, S., Tomita, V., Sakakura, T., Nager, C., Bhabatosh, C. & Muller, R. (1986) Nucleic Acids Res. 14, 2413-2427], previously thought to encode mouse tyrosinase. Two other cDN...