نتایج جستجو برای: deafness kid syndrome
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Usher syndrome type I is characterized by congenital hearing loss, retinitis pigmentosa (RP), and variable vestibular areflexia. Usher syndrome type ID, one of seven Usher syndrome type I genetic localizations, have been mapped to a chromosomal interval that overlaps with a nonsyndromic-deafness localization, DFNB12. Mutations in CDH23, a gene that encodes a putative cell-adhesion protein with ...
Hypoparathyroidism, deafness and renal dysplasia (HDR) syndrome is an autosomal dominant genetic disorder characterized by hypoparathyroidism, sensorineural deafness and renal dysplasia. We herein present the first Turkish patient with HDR syndrome, who has a p.R367X mutation. This report indicates that p.R367X is not a mutation specific for the Far Eastern populations and also that urological ...
Childhood deafness is quite bothersome and a common problem. EBM documents that serious hearing impairment is found in one in 800 newborns. Amongst the 50 percent of permanent childhood deafness, 30 percent is syndromic and is thought to be because of abnormal genetic makeup. Syndromic cases of deafness are more accurately diagnosed by the associated additional features of the syndrome. Waarden...
The Jervell and Lange Nielson syndrome(JLN) is an infrequent form of long QT syndrome (LQTS) in which prolonged QT interval and congenital deafness exist together. We attempted to identify patients with LQTS among 127 children (age 1.2 to 10 years) with congenital hearing loss. The corrected QT interval was measured from 12 lead electrocardiogram(ECG) , using Bazettes and Friedricia formulae.Th...
BACKGROUND The estimated prevalence of Sensory Neural Hearing Loss (SNHL) in patients less than 18 years of age is 6 per 1000. Roughly 50% of cases of congenital SNHL can be linked to a genetic cause, with approximately 30% being syndromic and the remaining 70% being non-syndromic. The term "syndromic" implies the presence of other distinctive clinical features in addition to hearing loss. The ...
When two mutations, one dominant pathogenic and the other "confining" nonsense, coexist in the same allele, theoretically, reversion of the latter may elicit a disease, like the opening of Pandora's box. However, cases of this hypothetical pathogenic mechanism have never been reported. We describe a lethal form of keratitis-ichthyosis-deafness (KID) syndrome caused by the reversion of the GJB2 ...
: Varicella, or chickenpox, is a highly contagious disease transmitted by the varicella zoster virus (VZV). Idiopathic sudden sensorineural hearing loss (ISSNHL) has been defined as of at least 30 dB over three frequencies on audiogram within days and with an uncertain cause. Deafness caused varicella-zoster occasionally occurred in Ramsey hunter syndrome but associated chickenpox rare. We pres...
Statistical models, such as Markov Chains, have been recently studied in the context of procedural content generation (PCG). These models can capture statistical regularities of a set of training data and use them to sample new content. However, these techniques assume the existence of sufficient training data with which to train the models. In this paper we study the setting in which we might ...
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...
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