نتایج جستجو برای: deafness
تعداد نتایج: 7684 فیلتر نتایج به سال:
Introduction: Various inherited or acquired disorders are characterized by palmoplantar kera-toderma hyperkeratosis of hands and feet, and when accompanied with deafness indicates mutations in the gene encoding connexin -26 or a particular mutation (A7445G) of the mito-chondrial t-RNA coded for serine (MT-TS1) is created. Case Report: On skin examination of a 7 year old boy, we observed hyper...
Hereditary deafness affects approximately 1 in 2,000 children. Mutations in the gene encoding the cochlear gap junction protein connexin 26 (CX26) cause prelingual, nonsyndromic deafness and are responsible for as many as 50% of hereditary deafness cases in certain populations. Connexin-associated deafness is thought to be the result of defective development of auditory sensory epithelium due t...
The P2X2 receptor is an ATP-gated ion channel, assembled by three subunits. Recently, it has been found that heterozygous mutations of P2X2 V60L and G353R can cause autosomal dominant nonsyndromic hearing loss. However, the underlying mechanism remains unclear. The fact that heterozygous mutations cause deafness suggests that the mutations may have dominant-negative effect (DNE) on wild-type (W...
The present study aimed to screen the hot-spot deafness gene mutations of adolescents with non‑syndromic hearing loss in Yongchuan, Chongqing (CQ-YC ANSHL), aiming to preliminarily understand the region's spectrum and occurrence frequency of deafness gene mutation hot‑spots. A total of 60 CQ‑YC ANSHL were selected from the Special Education School of Yongchuan, Chongqing and the nine most commo...
Clinical presentation of multiple sclerosis (MS) is highly heterogeneous. Deafness is considered to be rare. The aim of this study was to determine the frequency of acute deafness in MS and to evaluate prognosis. The occurrence of acute deafness was systematically noted in a cohort of 400 consecutive clinically definite MS patients. Acute deafness was observed in 14 patients (3.5 p. cent) with ...
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...
The theory of predictive coding assumes that higher-order representations influence lower-order representations by generating predictions about sensory input. In congenital deafness, one identified dysfunction is a reduced activation of deep layers in the auditory cortex. Since these layers play a central role for processing top-down influences, congenital deafness might interfere with the inte...
The use of directional antennas is a promising technique for the provision of high-speed wireless local and personal area networks such as IEEE 802.11ac, IEEE 802.11ad, and IEEE 802.15.3c. In this paper, we propose a new directional MAC protocol for wireless ad hoc networks that is referred to as deafness-aware MAC (DA-MAC). Although a significant number of directional MAC protocols have been p...
Hearing function was tested in dogs from breeds at risk for pigment-associated congenital sensorineural deafness - Dalmatian, English setter (ES), English cocker spaniel (ECS), bull terrier (BT), Australian cattle dog (ACD), whippet, Catahoula leopard dog, and Jack Russell terrier. Deafness prevalence was highest in Dalmatians and lowest in ECS. Phenotype correlation studies were performed in b...
objectives: hearing impairment in children is considered as an important public health problem. auditory function in these children is poor and depends on their hearing aids efficacy and also their ears’ status. hearing aids are very expensive and ear disease deteriorates its performance. therefore detecting the ear disease and offering proper treatment is necessary. the aim of this study is to...
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