Loss of function,missense, and intronic variants in NOTCH1 confer different risks for left ventricular outflow tract obstructive heart defects in two European cohorts

Loss of function variants in NOTCH1 cause left ventricular outflow tract obstructive defects (LVOTO). However, the risk conferred by rare and noncoding variants in NOTCH1 for LVOTO remains largely uncharacterized. In a cohort of 49 families affected by hypoplastic left heart syndrome, a severe form of LVOTO, we discovered predicted loss of function NOTCH1 variants in 6% of individuals. Rare or low-frequency missense variants were found in 16% of families. To make a quantitative estimate of the genetic risk posed by variants in NOTCH1 for LVOTO, we studied associations of 400 coding and noncoding variants in NOTCH1 in 1,085 cases and 332,788 controls from the UK Biobank. Two rare intronic variants in strong linkage disequilibrium displayed significant association with risk for LVOTO amongst European-ancestry individuals. This result was replicated in an independent analysis of 210 cases and 68,762 controls of non-European and mixed ancestry. In conclusion, carrying rare predicted loss of function variants in NOTCH1 confer significant risk for LVOTO. In addition, the two intronic variants seem to be associated with an increased risk for these defects. Our approach demonstrates the utility of population-based data sets in quantifying the specific risk of individual variants for disease-related phenotypes.     

当归四逆汤辅助治疗冠状动脉粥样硬化性心脏病的效果及其机制研究

目的探索当归四逆汤辅助治疗冠状动脉粥样硬化性心脏病(冠心病)的疗效及其作用机制。方法选取2017年3月—2018年3月陕西中医药大学附属医院治疗的冠心病心绞痛患者60例,将患者随机分为对照组和实验组,每组30例。对照组采用常规西药治疗,实验组除了进行常规西药治疗外,同时给予当归四逆汤进行辅助治疗4周。比较2组的临床疗效,治疗前后动态心电图缺血性ST—T改变时间、血脂水平以及心脏功能指标的差异。结果实验组患者的心绞痛症状疗效治疗总有效率为86.7%(26/30),对照组总有效率为70.0%(21/30),实验组总有效率明显高于对照组(P<0.05);治疗后2组缺血性ST—T改变时间均较治疗前明显缩短(P均<0.05),且治疗后实验组患者的缺血性ST-T改变的时间明显短于对照组(P<0.05);治疗后2组的总胆固醇(TC)、三酰甘油(TG)、低密度脂蛋白胆固醇(LDL-C)水平相对于本组治疗前明显降低(P均<0.05),高密度脂蛋白胆固醇(HDL-C)水平均比本组治疗前明显升高(P均<0.05),且治疗后实验组患者血清中TC、TG、LDL-C水平明显低于对照组(P均<0.05),HDL-C水平明显高于对照组(P<0.05)。2组治疗后心排血量(CO)、室间隔厚度(IVST)、左室射血分数(LVEF)和左室舒张末期内径(LVEDD)均较治疗前明显改善(P均<0.05),且实验组各指标改善情况明显优于对照组(P<0.05)。结论当归四逆汤辅助治疗冠心病的疗效良好,其机制可能是通过调节血脂代谢,改善血液循环和心脏功能来实现的。     

养心定悸胶囊治疗伴长RR间期的心房颤动合并慢性心力衰竭的临床研究

目的观察养心定悸胶囊治疗伴长RR间期的心房颤动合并慢性心力衰竭患者的效果。方法将2016年5月1日—2018年6月1日就诊于河北省人民医院的104例伴长RR间期的心房颤动合并慢性心力衰竭患者随机分为试验组52例和对照组52例,2组均给予改善心功能、稳定心率在内的规范化治疗,试验组在此基础上加服养心定悸胶囊,6粒/次,2次/d。观察2组患者治疗12周后症状、心率、RR间期、心功能[左室射血分数(LVEF)、左室舒张末期内径(LVEDD)、左房内径(LAD)、N端前脑钠肽(NT-proBNP)]及心率变异性指标[窦性心率RR间期标准差(SDNN)、RR间期平均值标准差(SDANN)、相邻RR间期差值的均方根(RMSSD)、窦性相邻RR间期之差>50 ms的计数占总RR间期数的百分比(PNN50)]的变化,记录2组不良反应发生情况。结果治疗12周后,试验组和对照组的临床症状总有效率分别为88.5%(46/52)和75.0%(39/52),试验组明显高于对照组(P<0.05);2组患者的24 h总心搏次数、心率及长RR间歇次数均显著少于治疗前,最长间歇时间均显著短于治疗前,且试验组最长间歇时间显著短于对照组,长RR间歇次数显著少于对照组,差异均有统计学意义(P均<0.05);2组患者的LVEF及均心率变异性各指标显著高于治疗前,LVEDD、LAD及NT-proBNP水平均显著低于治疗前,且试验组的变化都更为显著,差异均有统计学意义(P均<0.05)。治疗期间2组患者的不良反应发生率比较差异无统计学意义(P>0.05)。结论养心定悸胶囊辅助治疗可明显改善伴长RR间期的心房颤动合并慢性心力衰竭患者症状,有效稳定心率,缩短长间歇,改善心功能,调节心率变异性,且安全性高。     

养阴益气活血汤对慢性心力衰竭患者心功能及生活质量的影响

目的:研究养阴益气活血汤对慢性心力衰竭患者心功能和生活质量的影响。方法:将慢性心力衰竭患者86例随机分为2组。对照组采用常规西药治疗,观察组联合养阴益气活血汤治疗。观察比较2组左心室射血分数(LVEF)、左心室收缩末期内径(LVESD)、左心室舒张末期内径(LVEDD)、生活质量评分、中医证候积分、疗效和不良反应。结果:治疗后,2组LVEF升高,LVEDD、LVESD降低,且观察组LVEF高于对照组,LVEDD、LVESD低于对照组,差异有统计学意义(P<0.05)。治疗后,2组中医证候积分、生活质量评分均降低,且观察组中医证候积分、生活质量评分低于对照组,差异有统计学意义(P<0.05)。观察组总有效率为93.02%,对照组总有效率为76.74%,观察组总有效率高于对照组(P<0.05)。结论:养阴益气活血汤治疗慢性心力衰竭,能显著改善患者心功能,提高生活质量,安全可靠。     

新型管理模式在护理实习教学管理中的应用探讨

目的探讨在进行护理实习教学管理期间新型管理模式应用可行性。方法选择我院2018年1月-2019年2月102例实习护生作为试验对象;数字奇偶法分组后探究每组教学管理模式;对照组(51名):选择传统护理教学管理模式展开;试验组(51名):选择新型护理教学管理模式展开;比较两组护实习护生行为规范合格率、平均业务学习出勤率以及教学满意度评分结果。结果试验组实习护生规范合格率(98.04%)高于对照组(64.71%)(P<0.05);试验组实习护生平均业务学习出勤率(98.04%)高于对照组(62.75%)(P<0.05);试验组实习护生各项教学满意度评分均高于对照组(P<0.05)。结论医院实习护生在接受新型护理实习教学管理后,对于规范合格率的提升,平均业务学习出勤率的提升以及教学满意度评分的提升,均获得显著效果,最终为医院实习护生的学习效率以及护理安全提升奠定了基础。     

Comparison of 2D versus M-mode echocardiography for assessing fetal myocardial wall thickness

Objective: M-mode and 2D have been proposed for evaluating fetal myocardial thickness. However, studies comparing the performance of both modalities are lacking. We aimed to compare 2D versus M-mode reproducibility for assessing myocardial wall thicknesses.

Methods: A prospective study including 45 healthy fetuses from low-risk pregnancies evaluated between 18 and 41 weeks of gestation. Left and right ventricular free-wall and septal myocardial thicknesses were measured at end-diastole (ED) and end-systole (ES) in transverse 4-chamber view using 2D and M-mode. Intra- and interobserver reproducibility was evaluated by the concordance correlation coefficient (CCC). Both techniques were compared by t-test of the CCC.

Results: 2D and M-mode demonstrated excellent and similar intraobserver repeatability, with the best concordance in ES septal thickness (M-mode CCC 0.956 versus 2D-mode CCC 0.914). Interobserver reproducibility demonstrated also a high concordance, optimal in ES left ventricular free wall (M-mode 0.925 versus 2 D 0.855). Comparison of both techniques demonstrated a high concordance in all measurements, except for ED septal thickness with better reproducibility using M-mode (CCC 0.954 versus 0.847, p?=?.017).

Conclusions: 2D and M-mode can be used in a reproducible manner for measuring fetal myocardial thickness, with a slightly better performance of M-mode for assessing ED septal wall thickness.     

The anesthetist as cardiologist: a case of heart block identified in the peripartum period

We describe a case of undiagnosed heart block which was detected during the postpartum surgical repair of a vaginal tear, and the subsequent investigations that confirmed diagnosis of atrio-ventricular heart block.