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Pediatric restrictive cardiomyopathy due to a heterozygous mutation of the TNNI3 gene 被引量:3
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作者 Yan Chen Shiwei Yang +4 位作者 Jun Li Gannan Wang yuming qin Daowu Wang Kejiang Cao 《The Journal of Biomedical Research》 CAS 2014年第1期59-63,共5页
Pediatric restrictive cardiomyopathy is rare and most commonly idiopathic in origin. Here, we applied a candi- date gene approach and identified a missense mutation in the cardiac troponin I gene in a 12-year-old Chin... Pediatric restrictive cardiomyopathy is rare and most commonly idiopathic in origin. Here, we applied a candi- date gene approach and identified a missense mutation in the cardiac troponin I gene in a 12-year-old Chinese girl with restrictive cardiomyopathy. This study indicates that mutation in sarcomere protein genes may play an im- portant role in idiopathic pediatric restrictive cardiomyopathy. 展开更多
关键词 CARDIOMYOPATHY RESTRICTIVE sarcomere protein gene troponin I
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2018 Chinese Pediatric Cardiology Society(CPCS) guideline for diagnosis and treatment of syncope in children and adolescents 被引量:57
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作者 Cheng Wang Yaqi Li +86 位作者 Ying Liao Hong Tian Min Huang Xiangyu Dong Lin Shi Jinghui Sun Hongfang Jin Junbao Du Jindou An Jie Chen Mingwu Chen Qi Chen Sun Chen Yonghong Chen Zhi Chen Adolphus Kai-tung Chau Junbao Du Zhongdong Du Junkai Duan Hongyu Duan Xiangyu Dong Lin Feng Lijun Fu Fangqi Gong Yonghao Gui Ling Han Zhenhui Han Bing He Zhixu He Xiufen Hu Yimin Hua Guoying Huang Min Huang Ping Huang Yujuan Huang Hongfang Jin Mei Jin Bo Li Fen Li Tao Li Xiaohui Li Xiaoyan Liu Yan Li Haitao Lv Tiewei Lv Zipu Li Luyi Ma Silin Pan Yusheng Pang Hua Peng yuming qin Jie Shen Lin Shi Kun Sun Jinghui Sun Hong Tian Jie Tian Cheng Wang Hong Wang Lei Wang Jinju Wang Wendi Wang Yuli Wang Rongzhou Wu Tianhe Xia Yanyan Xiao Chunhong Xie Yanlin Xing Zhenyu Xiong Baoyuan Xu Yi Xu Hui Yan Shiwei Yang Qijian Yi Xia Yu Xianyi Yu Yue Yuan Hongyan Zhang Huili Zhang Li Zhang qingyou Zhang Xi Zhang Yanmin Zhang Zhiwei Zhang Cuifen Zhao Bin Zhou Hua Zhu 《Science Bulletin》 SCIE EI CAS CSCD 2018年第23期1558-1564,共7页
Syncope belongs to the transient loss of consciousness(TLOC), characterized by a rapid onset, short duration, and spontaneous complete recovery. It is common in children and adolescents, accounting for 1% to 2% of eme... Syncope belongs to the transient loss of consciousness(TLOC), characterized by a rapid onset, short duration, and spontaneous complete recovery. It is common in children and adolescents, accounting for 1% to 2% of emergency department visits.Recurrent syncope can seriously affect children's physical and mental health, learning ability and quality of life and sometimes cardiac syncope even poses a risk of sudden death. The present guideline for the diagnosis and treatment of syncope in children and adolescents was developed for guiding a better clinical management of pediatric syncope. Based on the globally recent development and the evidence-based data in China, 2018 Chinese Pediatric Cardiology Society(CPCS) guideline for diagnosis and treatment of syncope in children and adolescents was jointly prepared by the Pediatric Cardiology Society, Chinese Pediatric Society, Chinese Medical Association(CMA)/Committee on Pediatric Syncope, Pediatricians Branch, Chinese Medical Doctor Association(CMDA)/Committee on Pediatric Cardiology, Chinese College of Cardiovascular Physicians, Chinese Medical Doctor Association(CMDA)/Pediatric Cardiology Society, Beijing Pediatric Society, Beijing Medical Association(BMA). The present guideline includes the underlying diseases of syncope in children and adolescents, the diagnostic procedures, methodology and clinical significance of standing test and headup tilt test, the clinical diagnosis vasovagal syncope, postural orthostatic tachycardia syndrome, orthostatic hypotension and orthostatic hypertension, and the treatment of syncope as well as follow-up. 展开更多
关键词 CPCS CHILDREN ADOLESCENT SYNCOPE
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SCN5A基因突变致家族性心肌病一例
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作者 戴艮银 秦玉明 杨世伟 《中华儿科杂志》 CAS CSCD 北大核心 2021年第12期1088-1089,共2页
1岁3月龄患儿因“咳嗽6 d,精神萎靡伴面色发绀2 h”就诊,诊断为左心室致密化不全、支气管肺炎、心力衰竭。该患儿存在心肌病家族史,有一胞姐3岁时死于扩张型心肌病,母亲有左心室扩大及房间隔缺损,对患儿行全外显子组基因测序发现其存在S... 1岁3月龄患儿因“咳嗽6 d,精神萎靡伴面色发绀2 h”就诊,诊断为左心室致密化不全、支气管肺炎、心力衰竭。该患儿存在心肌病家族史,有一胞姐3岁时死于扩张型心肌病,母亲有左心室扩大及房间隔缺损,对患儿行全外显子组基因测序发现其存在SCN5A基因杂合错义突变:c.3076C>T(p.R1023C),该突变遗传自母亲,考虑该突变可导致家族性心肌病。该突变首次在家族性心肌病中被报道。 展开更多
关键词 SCN5A基因 房间隔缺损 心肌病 支气管肺炎 错义突变 心力衰竭 基因测序 左心室扩大
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