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线粒体疾病中单边听力损失和听力不对称:一个范围审查
Marianna Manuelli1, Andrea Migliorelli1, Chiara Bianchini1
1ENT & Audiology Unit, Department of Neurosciences, University Hospital of Ferrara, 44124 Ferrara, Italy.
Journal of clinical medicine
|September 14, 2024
概括
线粒体突变可以导致遗传性听力损失,有时呈现不对称. 识别这种非典型的听力损失表现对于准确诊断和控制线粒体疾病至关重要.
科学领域:
- 遗传学 遗传学 是一个
- 耳鼻喉科 耳鼻喉科 耳鼻喉科
- 神经学 神经学
背景情况:
- 线粒体转移RNA突变是遗传性听力损失的重要原因.
- 虽然经常是双边和对称的,但线粒体疾病引起的听力损失可以呈现不对称或单边.
- 这些非典型的表现带来了诊断挑战.
研究的目的:
- 审查线粒体疾病中听觉不对称的证据.
- 突出非典型听力损失呈现的病例.
主要方法:
- 使用PubMed,Scopus和谷歌学者进行了全面的文献审查.
- 该审查遵循了系统性审查和元分析 (PRISMA) 的首选报告项目,用于范围审查的指南.
- 包括10篇详细介绍25名患者的全文文章.
主要成果:
- 该审查确定了25名患有与线粒体疾病相关的单面或不对称听力损失的患者.
- 这些发现强调了线粒体疾病中存在各种听觉表现的存在.
结论:
- 线粒体疾病中的感觉神经听力损失在单边或不对称时会呈现出诊断复杂性.
- 早期识别这种临床变异对于在常规实践中及时诊断至关重要.
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