Suppr超能文献

发育性髋关节发育不良:基因筛查的视角

Developmental Dysplasia of Hip: Perspectives in Genetic Screening.

作者信息

Zamborsky Radoslav, Kokavec Milan, Harsanyi Stefan, Attia Doaa, Danisovic Lubos

机构信息

Department of Orthopaedics, Faculty of Medicine, Comenius University and National Institute of Children's Diseases, Limbova 1, 833 40 Bratislava, Slovakia.

Institute of Medical Biology, Genetics and Clinical Genetics, Faculty of Medicine, Comenius University, Sasinkova 4, 811 08 Bratislava, Slovakia.

出版信息

Med Sci (Basel). 2019 Apr 11;7(4):59. doi: 10.3390/medsci7040059.

Abstract

Development dysplasia of the hip (DDH) is a complex developmental disorder despite being a relatively common condition mainly caused by incompatibility of the femoral head and the abnormal joint socket. Development dysplasia of the hip describes a wide spectrum of disorders ranging from minor acetabular dysplasia to irreducible dislocation of the hip. Modern medicine still suffers from lack of information about screening and precise genetic examination. Genome wide linkage and association studies have brought significant progress to DDH diagnosis. Association studies managed to identify many candidate (susceptible) genes, such as , , , , and , which play a considerable role in the pathogenesis of DDH. Early detection of DDH has a big chance to help in preventing further disability and improve the psychological health and quality of life in those children. This emphasizes the importance to establish a universal screening program along with the genetic counseling.

摘要

发育性髋关节发育不良(DDH)是一种复杂的发育障碍,尽管它是一种相对常见的病症,主要由股骨头与异常关节窝不匹配引起。发育性髋关节发育不良描述了一系列广泛的病症,从轻微的髋臼发育不良到髋关节不可复位性脱位。现代医学在筛查和精确基因检测方面仍然缺乏信息。全基因组连锁和关联研究为DDH的诊断带来了重大进展。关联研究已成功识别出许多候选(易感)基因,如 、 、 、 和 ,它们在DDH的发病机制中起着相当重要的作用。DDH的早期检测极有可能有助于预防进一步的残疾,并改善这些儿童的心理健康和生活质量。这强调了建立普遍筛查计划以及遗传咨询的重要性。

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