GJB2基因突变致聋儿童的人工耳蜗植入效果 |
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引用本文: | 孔颖,刘莎,王素菊,李淑静,梁爽. GJB2基因突变致聋儿童的人工耳蜗植入效果[J]. 中华医学杂志(英文版), 2013, 126(7) |
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作者姓名: | 孔颖 刘莎 王素菊 李淑静 梁爽 |
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作者单位: | Beijing Tong Ren Hospital, Capital Medical University , Beijing Institute of Otolaryngology, Key Laboratory of Otolaryngology Head and Neck Surgery (Capital Medical University), Ministry of Education,Beijing Tong Ren Hospital, Capital Medical University , Beijing Institute of Otolaryngology, Key Laboratory of Otolaryngology Head and Neck Surgery (Capital Medical University), Ministry of Education,Beijing Tong Ren Hospital, Capital Medical University , Beijing Institute of Otolaryngology, Key Laboratory of Otolaryngology Head and Neck Surgery (Capital Medical University), Ministry of Education,Beijing Tong Ren Hospital, Capital Medical University , Beijing Institute of Otolaryngology, Key Laboratory of Otolaryngology Head and Neck Surgery (Capital Medical University), Ministry of Education,China Rehabilitation Research Center for Deaf Children |
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基金项目: | 国家自然科学基金项目(面上项目,重点项目,重大项目);首都卫生发展科研基金 |
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摘 要: | 背景:基因诊断技术的普及和推广,使得先天性听力障碍的儿童可以检测出致聋基因,其中在人工耳蜗植入患者中GJB2(gap junction protein beta 2,GJB2 )基因突变的发生率为26.5%。本文对31例GJB2基因突变致聋儿童人工耳蜗植入后听觉康复效果进行了随访评估,从而为评价此类患者人工耳蜗植入效果提供参考依据。
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关 键 词: | 基因 GJB2 人工耳蜗 康复效果 |
Cochlear Implantation Effect on Deaf Children with Gap Junction Protein Beta 2 (GJB2) Gene Mutation |
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Abstract: | Background The popularization and promotion of gene diagnosis technology makes it possible to detect deafness genes for children with congenital hearing impairment, and the proportion of gap junction protein beta 2 (GJB2) gene mutations in cochlear implant patients is 26.5%. We did follow-up evaluation on auditory rehabilitation effect for all 31 deaf children with GJB2 gene mutation after cochlear implantation to provide a reference for the cochlear implant effect evaluation of such patients. |
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Keywords: | genetic connexin26 cochlear implant rehabilitation effect |
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