Suppr超能文献

先天性听力损失中的综合征性疾病。

Syndromic disorders in congenital hearing loss.

作者信息

Lammens F, Verhaert N, Desloovere C

机构信息

Department of Otorhinolaryngology, Head and Neck Surgery, University Hospitals of Leuven, Leuven, Belgium.

出版信息

B-ENT. 2013;Suppl 21:45-50.

Abstract

OBJECTIVES

To investigate the aetiology of congenital hearing loss detected by the universal neonatal hearing screening programme (Algo) that was introduced in Flanders 15 years ago, and, more specifically, to investigate genetic causes.

METHODOLOGY

Diagnostic work-up of all children with confirmed hearing loss after referral by the Algo screening programme and screening at the neonatal intensive care unit (NICU) of our university hospital.

RESULTS

A hearing loss was confirmed in 505 of the 569 neonates (18% from NICU) referred between 1997 and 2011. After further examination, a genetic origin was identified in 84 (17%) of 100 children with a syndromic hearing loss. The most frequent syndromes are discussed.

CONCLUSION

A higher percentage of syndromic hearing loss was found than in the literature. This could be explained by the good cooperation with the human genetics department and the proportion of children retrieved from the neonatal intensive care unit.

摘要

目的

调查15年前在法兰德斯引入的通用新生儿听力筛查项目(Algo)所检测出的先天性听力损失的病因,更具体地说,是调查遗传原因。

方法

对经Algo筛查项目转诊并在我校医院新生儿重症监护病房(NICU)接受筛查后确诊听力损失的所有儿童进行诊断检查。

结果

在1997年至2011年间转诊的569例新生儿中,有505例(18%来自NICU)确诊听力损失。经过进一步检查,在100例综合征性听力损失儿童中,有84例(17%)确定为遗传原因。文中讨论了最常见的综合征。

结论

发现综合征性听力损失的比例高于文献报道。这可能是由于与人类遗传学部门的良好合作以及从新生儿重症监护病房找回的儿童比例所致。

文献AI研究员

20分钟写一篇综述,助力文献阅读效率提升50倍。

立即体验

用中文搜PubMed

大模型驱动的PubMed中文搜索引擎

马上搜索

文档翻译

学术文献翻译模型,支持多种主流文档格式。

立即体验