نتایج جستجو برای: sensorineural deafness
تعداد نتایج: 31748 فیلتر نتایج به سال:
We describe a hemodialysis patient with hypoparathyroidism due to HDR (hypoparathyroidism, sensorineural deafness, and renal dysplasia) syndrome caused by GATA3 mutation. She presents tumoral calcinosis which is a rare complication of end-stage renal failure. A novel mutation of GATA3 is identified in this patient.
Introduction Germline mutations in SLC29A3 result in a range of clinically related, recessive syndromes: H syndrome, pigmented hypertrichosis with insulin-dependent diabetes mellitus (PHID) syndrome, Faisalabad histiocytosis (FHC), and sinus histiocytosis with massive lymphadenopathy (SHML). Main symptoms of these diseases are hyperpigmentation with hypertrichosis, sensorineural deafness, diabe...
A 6 year old boy who presented with steroid unresponsive nephrotic syndrome is reported. He was found to have focal segmental glomerulosclerosis and associated hypoparathyroidism and sensorineural deafness. The child progressed to end stage renal failure and was successfully managed by dialysis and cadaveric renal transplantation. He later developed progressive neurological deterioration and mi...
OBJECTIVE To determine the natural history and pathogenesis of hearing loss in children with acute bacterial meningitis. DESIGN Multicentre prospective study. SETTING 21 hospitals in the south and west of England and South Wales. SUBJECTS 124 children between the ages of 4 weeks and 16 years with newly diagnosed bacterial meningitis. METHODS Children underwent repeated audiological asse...
Jervell and Lange-Nielsen syndrome (JLNS) is an autosomal recessive cardioauditory ion channel disorder characterized by congenital bilateral sensorineural deafness and long QT interval. JLNS is a ventricular repolarization abnormality and is caused by mutations in the KCNQ1 or KCNE1 gene. It has a high mortality rate in childhood due to ventricular tachyarrhythmias, episodes of torsade de poin...
Alport’s syndrome, a renal disorder with inherited transmission, is characterized by ultrastructural changes of glomerular basement membrane and basement membranes elsewhere. A progressive haematuric nephritis, sensorineural hearing loss and familial occurrence in successive generations are typical of this disorder. X-linked dominant inheritance is quite frequent (85–90% of the families) [1]. A...
A significantly increased risk for dominant sensorineural deafness in patients who have Hirschsprung disease (HSCR) caused by endothelin receptor type B and SOX10 has been reported. Despite the fact that c-RET is the most frequent causal gene of HSCR, it has not been determined whether impairments of c-Ret and c-RET cause congenital deafness in mice and humans. Here, we show that impaired phosp...
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