中国儿童心脏移植操作规范(2019版)

儿童心脏移植是治疗年龄18岁终末期心力衰竭患者的有效手段。1967年美国Adrian Katrowitz实施第一例儿童心脏移植,近五年全球80家单位每年开展500例左右。中国儿童心脏移植起步晚、发展慢。自1995年开展第一例儿童心脏移植以来,目前国内已登记病例超过130例。中华医学会器官移植学分会组织心脏移植专家,总结国内外相关研究最新进展,结合国际指南和临床实践,针对儿童心脏移植受者选择及常用术式的操作要点、程序和方法,以及各类复杂先天性心脏病心脏移植的特殊操作,制订《中国儿童心脏移植适操作规范(2019版)》。     

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.     

中国5~18岁人群遗尿症患病率的横断面调查

目的 了解中国儿童和青少年遗尿症的患病情况。方法 横断面调查，以中国医师协会肾脏专委会中国儿童遗尿疾病管理协作组（简称：协作组）成员与所在省、自治区和直辖市有工作联系的区县为抽样单位。遗尿症诊断标准为年龄≥5岁，3个月内出现尿床事件≥1次；尿床指夜间睡眠中排尿于床上或尿湿衣裤。调查时间为2017年4月20日至2017年5月12日；调查人群为中国5~18岁儿童及青少年，分为幼儿园（5~6岁）、小学（~12岁），初中（~15岁）和高中（~18岁）。每个区县样本量需＞3 073人。自行设计遗尿症调查问卷，本文主要分析基本人口学信息和尿床事件。由儿童或青少年的家长或照护者在手机或其他安装有微信应用终端设备上填写问卷。结果 24个协作组成员所在省、自治区和直辖市中的34个区县中的225所幼儿园和学校参与了调查，其中幼儿园82所，小学61所，初中49所，高中33所。调查目标样本人群129 952人，进入本文分析的调查问卷100 071份（77.0%）。男52 074份，平均年龄（11.0±3.4）岁，汉族占92.5%，幼儿园、小学、初中、高中人数比例约为1∶5∶2∶1。中国儿童和青少年遗尿症患病率为4.8%（4 821/100 071）；幼儿园、小学、初中、高中遗尿患病率分别为12.1%、5.1%、1.1%和1.4%；各年龄男孩遗尿症患病率均高于同年龄的女孩；中国境内6大行政区（华北、东北、华东、中南、西南、西北）以样本人群年龄构成比进行标准化后，其患病率分别为4.2%，3.7%、4.6%、5.8%、5.1%和4.9%；4 821名遗尿症患儿中，轻、中、重度遗尿症患儿分别占81.4%、13.5%和5.1%；重度遗尿症幼儿园、小学、初中和高中组比例为6.9%、3.7%、5.3%和10.0%。结论 中国幼儿园、小学、初中、高中人群遗尿患病率分别为12.1%、5.1%、1.1%和1.4%，儿童遗尿症患病率总体为4.8%。幼儿园及高中组重度遗尿症的比例较高。     

Bacteroides forsythus ATCC43037菌体蛋白与人类唾液酸性富脯蛋白的相互作用

目的：探讨福赛类杆菌与人类唾液富脯蛋白相互作用的蛋白分子。方法：Western—blot方法。将人工合成唾液富脯蛋白用生物素标记，福赛类杆菌全菌蛋白凝胶电泳，半干转移至纤维膜上，观察二者的相互作用。结果：富脯蛋白能与分子量为85KD、65KD、60KD、以及49KD的福赛类杆菌蛋白发生结合。结论：福赛类杆菌存在与人类唾液富脯蛋白相互结合的粘附素。     

Ligustrazine inhibits high voltage-gated Ca~(2+) and TTX-resistant Na~+ channels of primary sensory neuron and thermal nociception in the rat:a study on peripheral mechanism

Objective Ligustrazine, also named as tetramethylpyrazine, is a compound purified from Ligusticum chuanxiong hort and has ever been testified to be a calcium antagonist. The present investigation was to determine the antinoci-ceptive effect of ligustrazine and, if any, the peripheral ionic mechanism involved. Methods Paw withdrawal Latency ( PWL) to noxious heating was measured in vivo and whole-cell patch recording was performed on small dorsal root ganglion (DRG) neurons. Results Intraplantar injection of ligustrazine (0.5 mg in 25μl) significantly prolonged the withdrawal latency of ipsilateral hindpaw to noxious heating in the rat. Ligustrazine not only reversibly inhibited high-voltage gated calcium current of dorsal root ganglion (DRG) neuron in dose-dependent manner with IC50 of 1.89 mmol/L, but also decreased tetrodotoxin (TTX) -resistant sodium current in relatively selective and dose-dependent manner with IC50 of 2.49 mmol/L. Conclusion The results suggested that ligustrazine could elevate the threshold of thermal nociception through inhibiting the high-voltage gated calcium current and TTX-resistant sodium current of DRG neuron in the rat.     

试论加强国际合作与促进我国医学伦理学教育的发展

原北京医科大学(现为北京大学医学部)从20世纪90年代初开始,积极寻求与美国中华医学基金会的合作以促进医学伦理学的学科发展和国际化水平的提高。十几年来,北京大学医学部作为基地和依托极大地支持和引领了我国医学伦理学的教学改革与发展,增强了相关人员的医学伦理意识以及医学伦理学理论对实践的指导作用,促进了伦理学知识和能力的培训,提升了我国生物医学科研伦理的实力,奠定了医学伦理学继续教育的基础,使医学伦理学实现了系统性和跨越式的发展。