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听力损失和特纳综合征:一个范围审查

Andrea Migliorelli¹, Andrea Ciorba¹, Marianna Manuelli¹

¹Department of Neurosciences, ENT and Audiology Unit, University Hospital of Ferrara, Ferrara, Italy.

The journal of international advanced otology

|February 12, 2025

概括

听力损失在特纳综合征 (TS) 中很常见,影响外耳,中耳和内耳. 遗传因素,如45,X单体,与TS患者的听力问题有关.

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
内分泌学在内分泌学.

背景情况:

听力损失 (HL) 是特纳综合征 (TS) 的一个常见疾病.
在TS中HL呈现出各种表现,并且可以随着年龄的增长而改变.
了解TS中的HL对于早期干预和管理至关重要.

研究的目的:

审查有关TS患者HL患病率的文献.
分析TS中与听觉特征相关的遗传变化.
综合目前关于特纳综合征HL病理生理学的知识.

主要方法:

从2000年到2023年12月的文献范围审查.
搜索的数据库包括PubMed/MEDLINE,EMBASE和科克兰图书馆.
包括17篇文章,涵盖了2129名TS患者.

主要成果:

导致导电性/混合性HL的外耳和中耳问题在儿童时期更为常见.
感觉神经HL从青春期开始就观察到.
单体45,X和Xp损失经常与TS中的HL有关.

结论:

HL是特纳综合征的一个显著和不断演变的特征.
特定的遗传改变与听觉功能障碍相关.
需要进一步研究以阐明TS中HL的机制和开发治疗策略.

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相关概念视频

Hearing

Hearing

When we hear a sound, our nervous system is detecting sound waves—pressure waves of mechanical energy traveling through a medium. The frequency of the wave is perceived as pitch, while the amplitude is perceived as loudness.