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.     

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.     

Perioperative management of diabetes

Diabetes is a complex, chronic metabolic disorder affecting approximately 9.3% of the adult population with the estimated number of adults with diabetes worldwide having more than tripled since 2000. This increase has largely been attributed to global urbanization and lifestyle changes. Diabetes affects 10–15% of the surgical population. These patients are frequently elderly, have complex medical co-morbidities and present for both high-risk elective and emergency surgery. This multisystem disease poses a significant challenge to both anaesthesia and surgery with patients with diabetes demonstrating higher morbidity and mortality rates compared to their non-diabetic counterparts. It is crucial that good glycaemic control is maintained throughout the perioperative period as this has been shown to correlate with positive patient outcomes. It is well-recognized that a co-ordinated, multidisciplinary approach aimed at optimizing every point in the patient pathway from GP referral to post-discharge care is required to obtain the best outcomes for the surgical patient with diabetes. The anaesthetist has a key role in the perioperative diabetes multidisciplinary team. Patients themselves are well experienced in manging their own diabetes and should be involved in doing so whenever possible.     

基于“证治代谢组学”假说探讨中药（单体/复方）药效物质基础的研究思路与实践＊

中药(单体/复方)药效物质基础研究是中医药现代研究的关键问题之一。然而,目前运用的生化和分子生物学方法很难诠释其多靶点、整体性和动态性的整合调节作用。课题组提出的"证治代谢组学"假说理论指出,不同的证候存在"证相关代谢谱群"和"证相关生物标志物",这可能是中药药效物质基础所在,辨证论治后偏离的代谢网络功能呈现回归趋势。基于"证治代谢组学"假说开展中药(单体/复方)药效物质基础研究,这将为阐释中药(单体/复方)防病治病和养生保健的科学内涵及其对疾病个体的整合调节作用提供新的思路。本文以冠心病为研究载体、气阴虚血瘀证为切入点、活血保心丸为干预措施,就该研究思路的内涵与总体模式、提出的背景与依据、实践的方式与可行性、创新与特色及其研究意义等进行了简要介绍。     

Lung Ultrasound for the Emergency Diagnosis of Pneumonia,Acute Heart Failure,and Exacerbations of Chronic Obstructive Pulmonary Disease/Asthma in Adults: A Systematic Review and Meta-analysis

Background

Lung ultrasound can accelerate the diagnosis of life-threatening diseases in adults with respiratory symptoms.