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| 1 | Cardiac Na^(+)-Ca^(2+) exchanger 1(ncx1h)is critical for the ventricular cardiomyocyte formation via regulating the expression levels of gata4 and hand2 in zebrafish显示文摘Ca^(2+) signaling is critical for heart development;however,the precise roles and regulatory pathways of Ca^(2+) transport proteins in cardiogenesis remain largely unknown.Sodium-calcium exchanger 1(Ncx1)is responsible for Ca^(2+) efflux in cardiomyocytes.It is involved in cardiogenesis,while the mechanism is unclear.Here,using the forward genetic screening in zebrafish,we identified a novel mutation at a highly-conserved leucine residue in ncx1 gene(mutant^(LDD353)/ncx1h^(L154P))that led to smaller hearts with reduced heart rate and weak contraction.Mechanistically,the number of ventricular but not atrial cardiomyocytes was reduced in ncx1h^(L154P) zebrafish.These defects were mimicked by knockdown or knockout of ncx1h.Moreover,ncx1h^(L154P) had cytosolic and mitochondrial Ca^(2+) overloading and Ca^(2+) transient suppression in cardiomyocytes.Furthermore,ncx1h^(L154P) and ncx1h morphants downregulated cardiac transcription factors hand2 and gata4 in the cardiac regions,while overexpression of hand2 and gata4 partially rescued cardiac defects including the number of ventricular myocytes.These findings demonstrate an essential role of the novel 154th leucine residue in the maintenance of Ncx1 function in zebrafish,and reveal previous unrecognized critical roles of the 154th leucine residue and Ncx1 in the formation of ventricular cardiomyocytes by at least partially regulating the expression levels of gata4 and hand2. | Liming Chu Huimin Yin Lei Gao Li Gao Yu Xia Chiyuan Zhang Yi Chen Tingxi Liu Jijun Huang Kenneth R.Boheler Yong Zhou Huang-Tian Yang | 2021 | Science China(Life Sciences)2021，64，2： | 3 |
| 2 | 儿茶酚胺敏感性室速心肺运动试验一例显示文摘儿茶酚胺敏感性室性心动过速(catecholaminergic polymorphic ventricular taclaycardia,CPVT)是由运动或情绪激动诱发的恶性心律失常,是青少年心源性猝死的重要原因之一。既往认为CPVT患者的室性心动过速多由运动诱发,因此不宜运动。而本研究显示CPVT患者在无氧阈以下的运动,并未出现室性早搏,到达无氧阈以后,室性早搏开始出现并逐渐增多。因此CPVT患者在无氧阈以下的运动是相对安全的。 | 张倩 宋春丽 李涵 王庆义 杨蕊珂 刘小静 杨丽红 徐金义 | 2019 | 实用心电学杂志2019，28，2： | 1 |
| 3 | 平板运动试验诱发儿茶酚胺敏感性室速及治疗随访1例显示文摘儿茶酚胺敏感性室性心动过速(catecholaminergic polymorphic ventricular tachycardia,CPVT)是以双向或多形性室性心动过速为特征的遗传性心律失常,多发生于无结构性心脏病的青少年,呈明显的家族聚集性,有常染色体显性和隐性两种遗传形式。 | 张润花 陈东 雷蕾 王铁锚 | 2021 | 内科急危重症杂志2021，27，2： | 0 |
| 4 | SCN5A基因异常致长QT综合征反复晕厥1例报告显示文摘1病历资料患者女性,39岁,2019年1月6日晚22:00左右休息时无明显诱因发作晕厥1次,无四肢抽搐、无角弓反张、无牙关紧闭、无粪尿失禁。患者家属紧急拨打120急救电话,并予心肺复苏术,1 min后患者自行意识恢复,无心慌、肢体活动不利等明显不适。20 min后患者由120急救送入外院后住院治疗。患者心律失常,频发室性早搏病史2年,见图1。否认家族心律失常病史,否认过敏史、外伤史,患者未婚未育,足球运动员。 | 刘宇 王贤良 赵志强 刘文豪 毛静远 | 2022 | 中国实用内科杂志2022，42，6： | 0 |
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