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首页 > 医学词汇大全 > Short QT syndrome
Short QT syndrome

心血管

关键词心血管 疾病 遗传性疾病

词汇介绍

拓展阅读

解析

Syndrome 英 ['sɪndrəʊm]

释义   n.  综合症状;并发症状;校验子;并发位

例句   In the proposed parallel decoder architecture,a novel parallel computation of syndrome is presented to reduce the hardware complexity.

在提出的并行解码器体系结构中,提出了一种新的并行计算综合征的方法,以降低硬件复杂度。

概述

短QT综合征(short QT syndrome, SQTS)是一种具有遗传特性,心脏结构正常、以短QT间期为特征,并可导致室性心动过速和(或)心室颤动及心源性猝死等恶性心律失常的综合征。遗传发病机制目前已发现5个SQTS致病基因:KCNH2、KCNQ1、KCNJ2、CACNA1C和CACNB2。①KCNH2 ( HERG)基因错义突变,该基因主要调控Ikr (快速激活延迟整流钾离子通道)的编码,增益该离子通道功能,导致心室肌细胞动作电位3相钾离子迅速外流,从而使动作电位

Short QT Syndrome: A Comprehensive Genetic Interpretation and Clinical Translation of Rare Variants复制标题

短QT综合征: 罕见变异的综合遗传解释和临床翻译

发表时间:2019-07-16

影响因子:5.7

作者: Oscar Campuzano

期刊:J Clin Med

Short QT syndrome, one of the most lethal entities associated with sudden cardiac death, is a rare genetic disease characterized by short QT intervals detected by electrocardiogram. Several genetic variants are causally linked to the disease, but there has yet to be a comprehensive analysis of variants among patients with short QT syndrome. To fill this gap, we performed an exhaustive study of variants currently catalogued as deleterious in short QT syndrome according to the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

译文

短QT综合征是与心源性猝死相关的最致命的实体之一,是一种罕见的遗传性疾病,其特征是心电图检测到的QT间期短。 一些遗传变异与该疾病有因果关系,但尚未对短QT综合征患者的变异进行全面分析。 为填补这一空白,我们根据美国医学遗传学和基因组学和分子病理学协会对目前编目为短QT综合征有害的变异进行了详尽的研究。