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引用次数: 0
摘要
人工耳蜗植入术是目前治疗重度至永久性感音神经性听力损伤（SNHI）儿童的首选方法。然而，人工耳蜗植入术（CI）的效果在不同受术者之间存在很大差异。基因诊断为感音神经性听力障碍（SNHI）的发病机制提供了直接线索，有助于为潜在的 CI 候选者开发个性化药物。在本文中，我将全面概述基因信息在 CI 临床决策中的作用。通过基因确诊，临床医生可以1）监测 SNHI 的演变并确定最佳手术时机；2）预测 CI 对已确定遗传病因的患者的潜在益处；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。
Application of Genetic Information to Cochlear Implantation in Clinical Practice
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.
期刊介绍：
Journal of Audiology and Otology (JAO) (formerly known as Korean Journal of Audiology) aims to publish the most advanced findings for all aspects of the auditory and vestibular system and diseases of the ear using state-of-the-art techniques and analyses. The journal covers recent trends related to the topics of audiology, otology, and neurotology conducted by professionals, with the goal of providing better possible treatment to people of all ages, from infants to the elderly, who suffer from auditory and/or vestibular disorders and thus, improving their quality of life. This journal encourages the submission of review papers about current professional issues, research papers presenting a scientific base and clinical application, and case papers with unique reports or clinical trials. We also invite letters to the editor and papers related to the manufacture and distribution of medical devices. This journal provides integrated views from otologists, audiologists, and other healthcare practitioners, offering readers high quality scientific and clinical information. This peer-reviewed and open access journal has been the official journal of the Korean Audiological Society since 1997 and of both the Korean Audiological Society and the Korean Otological Society since 2017. It is published in English four times a year in January, April, July, and October.
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