结核病与糖尿病共病的治疗管理专家共识

结核病与糖尿病均是临床上的常见病和多发病,两者可合并存在,相互影响。活动性结核病作为感染因素可加重糖尿病病情,而糖尿病患者又是发生结核病的高危人群,结核病与糖尿病双重负担将成为重大的全球公共卫生问题。因此,需重视结核病与糖尿病共病的治疗管理。本共识重点介绍了结核病与糖尿病共病的危害、发病机制、双向筛查、临床特点、诊断、治疗和管理等内容。     

Professor Yanxing Jia’s team has made continuous breakthroughs in the field of total synthesis of complex natural products

Eight-Step Total Synthesis of Phalarine via Bioinspired Oxidative Coupling of Indole and Phenol.     

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.     

Prof. Pengfei Tu and Prof. Kewu Zeng have discovered the natural molecule glue bufalin

Prof. Pengfei Tu and Prof. Kewu Zeng have discovered the natural molecule glue bufalin.