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.     

偏瘫性肩痛患者腋囊的MRI观测及临床意义

目的通过MRI技术观察偏瘫患者肩疼痛腋囊形态变化,为影像诊断提供依据。方法对47例偏瘫性肩疼痛患者(疼痛组)和47例正常肩部(对照组),运用MRI技术对肩关节腋囊进行测量,观察腋囊下肱盂韧带信号。结果偏瘫性肩疼痛的腋囊厚度(4.1±1.45)mm,高于对照组。腋囊腔高度(8.70±1.80)mm,腋囊腔宽度(4.31±0.56)mm,小于对照组。偏瘫性肩痛下肱盂韧带呈高信号出现率达21%,腋囊厚度与VAS呈正相关,与肩关节外展外旋呈负相关。结论脑中风中后期肩周炎是引起偏瘫性肩疼痛患者的常见原因,腋囊厚度是限制肩关节活动度的重要因素。     

PBL与思维导图相结合教学模式在临床教学中的应用

目的探讨PBL与思维导图相结合教学模式在临床教学中的应用。方法本文研究对象为在我院见习的临床本科生,为大理大学2015级一个班级,共55名学生,数据收集时间为2019年1月;按照授课方式的差异将学生分为实验班与对照班,实验班27名学生,对照班28名学生;对照班实施常规教学法,实验班实施PBL与思维导图相结合教学法。结果实验班教学结束测试得分为(85.60±3.46)分,对照班教学结束测试得分为(77.48±3.12)分,差异具有统计学意义(P<0.05);实验班教学方式满意度评分为(90.35±4.12)分,对照班教学方式满意度评分为(80.25±4.05)分,差异具有统计学意义(P<0.05)。结论在临床教学中采用PBL与思维导图相结合教学模式,能够提高学生的专业知识掌握水平与对教学模式的认可度。     

尘肺病患者心理、社会支持状况调查及相关性研究

目的为了解尘肺病患者心理状况及社会支持对患者心理健康的影响,为对尘肺病患者建立干预措施提供技术支撑。方法采用SCL-90症状清单、社会支持量表对在全省尘肺病住院病人较多的3家医院进行尘肺病患者问卷调查。结果 208名尘肺病患者男性205人,女性3人。文化程度均为高中及以下;Ⅰ期尘肺148人,Ⅱ期尘肺41人,Ⅲ期尘肺19人;尘肺患者SCL-90症状清单总分为162.00±64.77,低于全国常模,差异有统计学意义(P0.05);不同分期、不同年齡段、不同病程尘肺病患者各组之间社会支持得分差异无统计学意义。结论尘肺病患者心理健康水平低于全国水平,社会支持各维度得分与SCL-90各因子得分呈负相关,建立尘肺病患者心理干预体系十分必要。     

基于机器学习的脑胶质瘤多模态影像分析

脑部胶质瘤是临床中常见的一种原发性脑肿瘤，具有复发率高、死亡率高以及治愈率低的特点。常规临床诊断主要依靠计算机断层扫描(CT)和磁共振成像(MRI)检查技术进行鉴别。随着成像技术和机器学习方法的不断发展，多模态影像智能分析技术已经逐步成为研究热点，在脑胶质瘤的病灶分割测量、肿瘤分级、预后生存周期预测和基因型辨别等方面具有重要的应用前景。本文重点介绍基于机器学习和多模态影像在脑胶质瘤临床辅助诊断和预后评估中的应用进展。     

癌症患者心理韧性质性研究的系统评价

目的 系统评价有关癌症患者心理韧性发展的真实体验,为更好地制定心理韧性干预方案提供理论依据。方法 计算机检索Cochrane Library、Medline、CINAHL、Embase、PubMed、Web of Science、Psyc INFO以及中国生物医学文献数据库、中国知网、维普、万方数据库从建库至2019年6月相关的质性研究。采用澳大利亚乔安娜布里格斯研究所循证卫生保健中心质性研究质量评价标准（2016）对文献进行评价,采用汇集性整合方法进行结果整合。结果 共纳入10篇文献,提炼42个明确的结果,形成8个类别,汇总成3个整合结果。①心理韧性发展是动态循环的过程：危机负性期,调节成长期,积极转化期,循环强化期;②心理韧性的阻碍因素：个体（消极应对,错误认知,症状和体象困扰）,环境（传统社会文化,医疗环境,家庭负担）;③心理韧性的保护因素：个体（积极心理与应对方式,复原经历,宗教信仰,自我表露,利他主义与行为）,环境（家庭因素,医疗照护,人际支持）。结论 心理韧性的发展是动态循环过程,受个体和环境因素影响,医护人员应根据不同阶段的影响因素给予针对性护理措施,促进患者心理韧性的形成和发展,提高患者的生活质量。     

Genetic toxicity assessment using liver cell models: past,present, and future

ABSTRACT

Genotoxic compounds may be detoxified to non-genotoxic metabolites while many pro-carcinogens require metabolic activation to exert their genotoxicity in vivo. Standard genotoxicity assays were developed and utilized for risk assessment for over 40 years. Most of these assays are conducted in metabolically incompetent rodent or human cell lines. Deficient in normal metabolism and relying on exogenous metabolic activation systems, the current in vitro genotoxicity assays often have yielded high false positive rates, which trigger unnecessary and costly in vivo studies. Metabolically active cells such as hepatocytes have been recognized as a promising cell model in predicting genotoxicity of carcinogens in vivo. In recent years, significant advances in tissue culture and biological technologies provided new opportunities for using hepatocytes in genetic toxicology. This review encompasses published studies (both in vitro and in vivo) using hepatocytes for genotoxicity assessment. Findings from both standard and newly developed genotoxicity assays are summarized. Various liver cell models used for genotoxicity assessment are described, including the potential application of advanced liver cell models such as 3D spheroids, organoids, and engineered hepatocytes. An integrated strategy, that includes the use of human-based cells with enhanced biological relevance and throughput, and applying the quantitative analysis of data, may provide an approach for future genotoxicity risk assessment.     

放射性心脏损伤动物模型相关实验研究进展

当利用放射线对胸部恶性肿瘤进行治疗时，位于纵隔的心脏会不可幸免受到照射，从而诱发放射性心脏损伤（radiation-induced heart disease, RIHD）。随着手术以及放化疗技术的提升，肿瘤患者生存时间得到延长，使得RIHD这一放疗远期并发症被越来越多的报道。因此，学者们对于RIHD的研究逐渐升温。目前国内外学者关于该疾病尚未形成统一的认识，临床上缺乏有效阻止其发生的方法。动物模型研究可为临床该疾病治疗及预防提供可靠证据，为此本文回顾分析近年来放射性心脏损伤动物模型实验研究情况，旨在为后续实验开展及临床应用提供参考。     

腮腺切除术中沿面神经总干顺行解剖面神经的效果及安全性

目的探讨腮腺切除术中应用沿面神经总干顺行解剖面神经的治疗效果及安全性。方法选取我院2016年2月至2019年3月收治的60例择期行腮腺切除术的患者,随机分为观察组与对照组各30例。对照组沿面神经总干逆行解剖面神经,观察组沿面神经总干顺行解剖面神经,观察两组患者术后1个月面神经功能及术后并发症发生情况。结果术后1个月,两组患者的面神经功能分级比较无统计学差异(P>0.05);观察组的术后并发症发生率为10.00%,明显低于对照组的33.33%(P <0.05)。结论临床行腮腺切除术中,沿面神经总干顺行解剖面神经可降低术后并发症发生率,值得推广。     

六手操作技术在口腔微螺钉种植支抗术中的应用

目的:探讨六手操作技术在口腔正畸微螺钉种植支抗术中的应用效果。方法:选取158例运用微螺钉种植支抗术的患者,在手术过程中采用六手操作护理配合。结果:六手操作护理配合明显缩短了手术时间,避免了交叉感染的发生,提高了患者满意度。结论:六手操作护理技术有一定的先进性,值得在临床推广。