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。     

皮肤鳞状细胞癌诊疗专家共识（2021）

【摘要】 皮肤鳞状细胞癌是非黑素瘤皮肤癌中最常见的肿瘤之一。近年来随着对其发病机制研究的深入以及诊断技术、Mohs显微描记手术、靶向治疗、免疫治疗的发展，皮肤鳞状细胞癌的诊疗取得了较大进展。该共识在国内外近期文献及诊疗指南的基础上，结合我国的诊疗现状，重点阐述皮肤鳞状细胞癌的临床表现及分型、病理活检及报告规范、风险等级评估、分级分期以及规范化治疗等，为临床医生的诊疗工作提供参考依据。     

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.     

螺旋断层治疗系统的质量保证

螺旋断层治疗系统(HT)是一种集调强放射治疗和影像引导放射治疗于一体的放射治疗系统,是目前最先进的放疗设备之一。考虑其与常规直线加速器质量保证的差异,由国家癌症中心/国家肿瘤质控中心提出,多家医疗单位共同参与制定了本指南。指南包括国内医疗机构HT用于临床工作的验收项目、操作制度、应急预案等内容,明确了质量控制的测试方法、评价标准、检测频率。指南结合国内医疗单位实际情况给出了推荐性检测项目,主要包括机械精度、剂量输出与分布、激光定位系统、治疗床运动精度、MVCT影像系统质控检测、临床治疗计划验证等具体实施方法步骤,使得指南具有很强的可操作性。本指南能给临床工作人员提供质量保证技术指导,使HT质量保证工作有章可循,可提高放射治疗的准确性和精度。对国内各医疗机构建立规范HT质量保证体系具有指导意义。     

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.