• 主题
高级搜索  >
历史搜索 清空历史
首页> 美国卫生研究院文献>Genetics Research International >Clinical Application of Screening for GJB2 Mutations before Cochlear Implantation in a Heterogeneous Population with High Rate of Autosomal Recessive Nonsyndromic Hearing Loss
【2h】

Clinical Application of Screening for GJB2 Mutations before Cochlear Implantation in a Heterogeneous Population with High Rate of Autosomal Recessive Nonsyndromic Hearing Loss

机译：高常染色体隐性非综合征性听力损失异源人群人工耳蜗植入前GJB2突变筛查的临床应用

代理获取
本网站仅为用户提供外文OA文献查询和代理获取服务，本网站没有原文。下单后我们将采用程序或人工为您竭诚获取高质量的原文，但由于OA文献来源多样且变更频繁，仍可能出现获取不到、文献不完整或与标题不符等情况，如果获取不到我们将提供退款服务。请知悉。
页面导航
  • 摘要
  • 著录项
  • 相似文献
  • 相关主题

摘要

Clinical application of mutation screening and its effect on the outcome of cochlear implantation is widely debated. We investigated the effect of mutations in GJB2 gene on the outcome of cochlear implantation in a population with a high rate of consanguineous marriage and autosomal recessive nonsyndromic hearing loss. Two hundred and one children with profound prelingual sensorineural hearing loss were included. Forty-six patients had 35delG in GJB2. Speech awareness thresholds (SATs) and speech recognition thresholds (SRTs) improved following implantation, but there was no difference in performance between patients with GJB2-related deafness versus control (all P > 0.10). Both groups had produced their first comprehensible words within the same period of time following implantation (2.27 months in GJB2-related deaf versus 2.62 months in controls, P = 0.22). Although our findings demonstrate the need to uncover unidentified genetic causes of hereditary deafness, they do not support the current policy for genetic screening before cochlear implantation, nor prove a prognostic value.
机译：突变筛查的临床应用及其对人工耳蜗植入结果的影响受到广泛争议。我们调查了近亲结婚率高，常染色体隐性非综合征性听力损失的人群中，GJB2基因突变对人工耳蜗植入结果的影响。包括211名患有严重舌前感音神经性听力损失的儿童。 46名患者的GJB2中有35delG。植入后，语音意识阈值（SATs）和语音识别阈值（SRTs）有所提高，但是GJB2相关性耳聋患者与对照组之间的表现没有差异（所有P> 0.10）。两组在植入后的相同时间内都产生了他们的第一个可理解的单词（GJB2相关性聋为2.27个月，对照组为2.62个月，P = 0.22）。尽管我们的发现表明有必要发现遗传性耳聋的未知遗传原因，但它们不支持当前的人工耳蜗植入前基因筛查政策，也没有证明其预后价值。

著录项

相似文献

  • 外文文献
  • 中文文献
  • 专利
代理获取

客服邮箱：kefu@zhangqiaokeyan.com

京公网安备：11010802029741号 ICP备案号：京ICP备15016152号-6 六维联合信息科技 (北京) 有限公司©版权所有

  • 客服微信

  • 服务号