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- In this review, we focus on some of the common causes of syndromic hearing impairment due to nuclear gene abnormalities, oudining the current state of knowledge o... 本文将简要介绍综合征型和非综合征型听力损害的核基因定位克隆和突变的研究进展,以及遗传性损害基因突变检测的临床应用情况。
- Keywords hereditary hearing impairment;syndromic hearing impairment;nonsyndromic hearing impairment;genetic counseling;Bayes network; 遗传性耳聋;综合征性耳聋;非综合征性耳聋;遗传咨询;贝叶斯网络;
- Keywords Hearing impairment;Genetics;Syndromic hearing impairment;Non - syndromic hearing impairment;Gene mutation;Molecular genetic test;Clinical diagnosis; 关键词听力损害;遗传学;综合征型听力损害;非综合征型听力损害;基因突变;分子遗传学检测;临床诊断;
- syndromic hearing impairment 综合征性耳聋
- She did not have any evidence of hearing impairment. 她没有任何听力损害的证据。
- Background: Hearing impairment in children can hamper learning process in them. 摘要背景：小儿的突发性耳聋临床上罕见。
- He received gentamicin and salicylate showed minor hearing impairment. 他接受庆大霉素和水杨酸盐治疗,发生轻度听力损害。
- Objective:To prevent the drug-induced hearing impairment and deafness. 目的：提出预防药源性听力减退和耳聋的发生。
- To investigate a huge family with autosomal dominant hereditary non syndromic hearing loss. 本文报道了一个遗传性非综合征性耳聋巨大家系。家族中有血缘关系的成员共有113人。
- Dizziness, headache, numbness of tongue and limbs, blurring of vision, hearing impairment or even coma, paralysis, etc. 神经系统症状例如感到头晕头痛口舌四肢和身体麻木视听模糊甚至昏迷瘫痪等。
- We present here a case of aberrant internal carotid artery with the symptoms of aural fullness, hearing impairment, and vertigo. 我们在此报告一个中耳之异位性内颈动脉的病例，其临床上的表现为耳闷，听力减退及头晕。
- In this paper, a family with nonsyndromic hearing impairment Caused by intermarry was reported. 文章报道一遗传性非综合征型耳聋家系。
- There was no evident diference between the normal group and the high risk group in hearing impairment prevalence. 听力障碍诊断率病理组略高于正常组，但两组之间无显著性差异；
- Results Thepositive rate of auditory screening by OAE was 1.762%, and the prevalence of hearing impairment was 9.49‰. 结果OAE总的筛查阳性率为1.;762%25;筛查新生儿中听力障碍率为9
- Methods Seventeen children who were diagnosed as hearing impairment were given complete audiological assessment. 方法对17例既往诊断为听障的儿童进行常规声导抗测试、行为测听、耳声发射等综合听力学评估。
- Conclusion Screening with OAE was sufficiently sensitive in identification of congenital hearing impairment. 结论耳声发射（OAE）是一种灵敏度较好的筛查方法。
- The report is the latest of several to warn that the “MP3” generation of youths may be heading for hearing impairment in later life. 该项研究报告是警告“MP3”一代年轻人可能在以后的生活中出现听力损害的数个研究报告中最新的一个。
- Abstract： To examine mutation in the partial coding region of GJB2 gene in 43 cases of Chinese patients with non-syndromic hearing impairment (NSHI). 摘 要： 目的：分析43例中国人非综合征性听力减退(NSHI)患者的GJB2基因部分编码区的突变的情况。
- Nevertheless, prolonged duration of diabetes, especially when complicated with retinopathy may contribute to sensorineural hearing impairment. 但当其病期较长及合并有并发症，如视网膜病变时，其听力有明显下降的趋势。
- Objective To investigate the causative genes of the kindred with genetic hearing impairment by means of positional cloning approach. 摘要目的探讨遗传性聋基因的定位克隆研究。
