肥厚型心肌病(hypertrophic cardiomyopathy,H C M)被证实是引发35岁以下青年人(尤其是运动员)心源性猝死(sudden cardiac death,S C D)的首要原因。约60%的H C M患者由编码肌小节蛋白的基因突变导致,呈常染色体显性遗传模式。P肌球蛋...肥厚型心肌病(hypertrophic cardiomyopathy,H C M)被证实是引发35岁以下青年人(尤其是运动员)心源性猝死(sudden cardiac death,S C D)的首要原因。约60%的H C M患者由编码肌小节蛋白的基因突变导致,呈常染色体显性遗传模式。P肌球蛋白重链基因、肌球蛋白结合蛋白C基因、肌钙蛋白T基因、肌钙蛋白I基因被认为是引起H C M最常见的突变基因。基因检测在H C M的临床诊断中已趋于常态化,但在法医工作中应用较少,如果基因检测技术能够应用于法医病理学诊断,将会给H C M猝死案件的死亡原因确认工作提供便利。更重要的是,通过猝死者的基因检测结果尽早进行家庭成员的危险评估才能降低猝死的发生率。本文主要综述j H C M的分子机制进展以及该疾病在法医病理学诊断中的应用价值。展开更多
With the improved power and precision with genome sequencing,the body of relevant literature on genodermatology has grown rapidly in recent years.In this study,we used CiteSpace,a scientometric software,to delineate t...With the improved power and precision with genome sequencing,the body of relevant literature on genodermatology has grown rapidly in recent years.In this study,we used CiteSpace,a scientometric software,to delineate the structure and dynamics of genodermatology and to further understand the emerging trends in this field.CiteSpace integrates individual citations and forms a cocitation network that demonstrates the evolution of a scientific field over time.Each reference cited by multiple articles is represented by a node in the network.The size of a node indicates how many times the reference has been cited.The nature of the connectivity between the nodes represents a dual relationship between the cited references and their citing articles.展开更多
文摘肥厚型心肌病(hypertrophic cardiomyopathy,H C M)被证实是引发35岁以下青年人(尤其是运动员)心源性猝死(sudden cardiac death,S C D)的首要原因。约60%的H C M患者由编码肌小节蛋白的基因突变导致,呈常染色体显性遗传模式。P肌球蛋白重链基因、肌球蛋白结合蛋白C基因、肌钙蛋白T基因、肌钙蛋白I基因被认为是引起H C M最常见的突变基因。基因检测在H C M的临床诊断中已趋于常态化,但在法医工作中应用较少,如果基因检测技术能够应用于法医病理学诊断,将会给H C M猝死案件的死亡原因确认工作提供便利。更重要的是,通过猝死者的基因检测结果尽早进行家庭成员的危险评估才能降低猝死的发生率。本文主要综述j H C M的分子机制进展以及该疾病在法医病理学诊断中的应用价值。
基金China Science and Technology Journal Excellence Action Plan(C-043)China Science and Technology Journal Excellence Action Plan Selecting and Cultivating High-level Journal Talents Sub-Project-Youth Talent Support Project(2020ZZ110402)。
文摘With the improved power and precision with genome sequencing,the body of relevant literature on genodermatology has grown rapidly in recent years.In this study,we used CiteSpace,a scientometric software,to delineate the structure and dynamics of genodermatology and to further understand the emerging trends in this field.CiteSpace integrates individual citations and forms a cocitation network that demonstrates the evolution of a scientific field over time.Each reference cited by multiple articles is represented by a node in the network.The size of a node indicates how many times the reference has been cited.The nature of the connectivity between the nodes represents a dual relationship between the cited references and their citing articles.
