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遗传信息在临床实践中人工耳蜗植入的应用。

Application of Genetic Information to Cochlear Implantation in Clinical Practice.

作者信息

Wu Chen-Chi

机构信息

Department of Otolaryngology, National Taiwan University Hospital, Taipei, Taiwan.

Department of Otolaryngology, National Taiwan University College of Medicine, Taipei, Taiwan.

出版信息

J Audiol Otol. 2024 Apr;28(2):93-99. doi: 10.7874/jao.2024.00080. Epub 2024 Apr 10.

Abstract

Cochlear implantation is currently the treatment of choice for children with severe-to-profound sensorineural hearing impairment (SNHI). However, the outcomes with cochlear implant (CI) vary significantly among recipients. Genetic diagnosis offers direct clues regarding the pathogenesis of SNHI, which facilitates the development of personalized medicine for potential candidates for CI. In this article, I present a comprehensive overview of the usefulness of genetic information in clinical decision-making for CI. Genetically confirmed diagnosis enables clinicians to: 1) monitor the evolution of SNHI and determine the optimal surgical timing, 2) predict the potential benefits of CI in patients with identified genetic etiology, and 3) select CI devices/electrodes tailored to patients with specific genetic mutations.

摘要

目前,人工耳蜗植入是重度至极重度感音神经性听力损失(SNHI)儿童的首选治疗方法。然而,人工耳蜗植入(CI)在接受者中的效果差异很大。基因诊断为SNHI的发病机制提供了直接线索,这有助于为CI的潜在候选者开发个性化医疗。在本文中,我全面概述了基因信息在CI临床决策中的有用性。基因确诊能够使临床医生:1)监测SNHI的进展并确定最佳手术时机,2)预测已确定基因病因患者CI的潜在益处,以及3)为具有特定基因突变的患者选择量身定制的CI设备/电极。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/9c46/11065544/cc24c32821bd/jao-2024-00080f1.jpg

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