儿童结直肠息肉的临床特征

结直肠息肉是儿童常见病,是儿童无痛性便血的常见病因。随着儿童结肠镜检查技术的推广,越来越多的结直肠息肉患儿得到了诊断和治疗。结直肠息肉多在幼儿期、学龄前期出现症状,通过结肠镜检查,能够确认息肉的部位、大小、数量,能够进行病理检查确定其性质。儿童结直肠息肉有炎性息肉、错构瘤性息肉、腺瘤性息肉等多种类型。儿科医生需要提高认识,对有症状或有相关家族史的患儿积极进行结肠镜检查。     

遗传病患者诊治经济学分析

目的对罕见遗传病患者的诊疗状况进行初步调查,就患者的疾病负担及成本构成进行分析。方法对北京大学第一医院儿科2019年4～12月门诊就诊的372例罕见遗传病患儿及其家庭进行调查,统计资料并分析。结果 372例中包括93种罕见遗传病,其中遗传代谢病226例,来自32个省市自治区,发病年龄从日龄2d到27岁,调查时年龄1月龄至30岁。确诊前,61.0%的患者辗转就医1～26年,经历3～6家医院。患者发病形式多样,58%的患者为急性发病,多以惊厥为首发症状。一些患者为慢性起病,如智力运动落后或倒退。57%的患者发病后及时就医。仅4.3%的患者在初诊时得到正确诊断,从发病到确诊花费<1万元。患者在确诊前因盲目诊治花费了不同的费用,其中花费医疗费用<1万元的占4.3%,40.9%的患者花费的医疗费用为1～9万,23.9%的患者花费的医疗费用为10～19万,22.0%的患者花费的医疗费用为20～49万,8.9%的患者确诊前花费的医疗费用在50万元以上。70.0%的患者在得到确诊前被诊断为脑瘫、智力运动落后、癫痫、肾功能衰竭、新生儿溶血、缺血缺氧性脑病、贫血、孤独症、精神病等多种疾病,并接...     

Genetics,its role in preventing the pandemic of coronary artery disease

Epidemiologists have claimed for decades that about 50% of predisposition for coronary artery disease (CAD) is genetic. Advances in technology made possible the discovery of hundreds of genetic risk variants predisposing to CAD. Multiple clinical trials have shown that cardiac events can be prevented by drugs to lower plasma low‐density lipoprotein cholesterol (LDL‐C). A major barrier to primary prevention is the lack of markers to identify those individuals at risk prior to the development of symptoms of the disease. Conventional risk factors are age‐dependent, occurring mostly in the sixth or seventh decade, which is less than desirable for early primary prevention. A polygenic risk score, derived from the number of genetic risk variants predisposing to CAD inherited by an individual, has been evaluated in over 1 million individuals. The risk for CAD is stratified into high, intermediate, and low. Polygenic risk scores derived from retrospective genotyping of several clinical trials evaluating the effect of statin therapy or PCSK9 inhibitors show the genetic risk is reduced 40%–50% by decreasing plasma LDL‐C. Prospective randomized placebo‐controlled clinical trials document a 40%–50% reduction in cardiac events in individuals at high genetic risk associated with favorable lifestyle changes and increased physical activity. The polygenic risk score is not age‐dependent and remains the same throughout life. Thus, the GRS is superior to conventional risk factors in identifying asymptomatic individuals at risk for CAD early in life for primary prevention. These results indicate clinical embracement of the GRS in primary prevention would be a paradigm shift in the treatment of the number one killer, CAD.     

贵州省鼠伤寒沙门菌单相变异株的CRISPR基因型和遗传多样性研究北大核心CSCD

目的了解贵州省鼠伤寒沙门菌单相变异株规律的成簇间隔短回文重复序列(CRISPR)的基因型及遗传多样性,为贵州省沙门菌病的预防控制提供依据。方法对分离自2013—2018年贵州省7个市(州)的71株疑似鼠伤寒沙门菌单相变异株进行系统生化鉴定及血清分型,结合双重PCR法确定疑似菌株为鼠伤寒沙门菌单相变异株。提取鼠伤寒沙门菌单相变异株的DNA作为模板,进行CRISPR1和CRISPR2的PCR扩增,将阳性扩增产物进一步测序,获得菌株的CRISPR1和CRISPR2间隔序列,根据间隔序列的组成,确定CRISPR基因型,并使用Bionumerics软件对菌株进行遗传多样性分析。结果71株疑似鼠伤寒沙门菌单相变异菌株经系统生化鉴定、血清分型及双重PCR法鉴定为鼠伤寒沙门菌单相变异株,经CRISPR1和CRISPR2两个位点的PCR扩增和产物测序,71株菌共检测到163个间隔序列,其中CRISPR1有102个,CRISPR2有61个。联合CRISPR1和CRISPR2两个位点的间隔序列进行分析,发现71株菌被分为33个CRISPR基因型(TSTs),其中TST11和TST1为贵州省的优势基因型,分别占总菌株数的25.35%和12.68%。71株菌经Bionumerics软件聚类分析后被分为A、B、C、D 4个簇,A簇包含的菌株最多,B簇包含的基因型最多,不同来源的3株参考株独立成簇,D簇包含7个TSTs基因型。结论贵州省鼠伤寒沙门菌单相变异株具有优势的CRISPR基因型和遗传多样性的特点,可能有其他的感染来源。     

广州汉族人群12个Y-STR基因座多态性及法医学应用研究

目的 研究广州地区汉族人群12个Y-STR基因座的等位基因频率分布、单倍型遗传多样性及其法医学应用价值.方法 采用Powerplex(R)Y System荧光标记复合扩增系统检测401例广州汉族无关个体的12个Y-STR基因座,并用3100遗传分析仪进行基因分型.结果 获得了广州地区汉族无关男性个体的12个Y-STR基因座的频率分布资料,观察到398个单倍型,其基因多样性为0.99997;检测13种动物血样,在特异性区域均无扩增产物;55个父系样本,未观察到突变基因;同一男性个体的不同组织基因分型相同且女性DNA成分不影响Y-STR的扩增分型.结论 该12个Y-STR基因座检测系统具有很高的识别能力,在群体遗传学研究及法医学混合检材的个人识别和父系亲缘关系鉴定中有重要应用价值.     

基于三维分析框架的“互联网+”医疗服务医保支付政策量化研究

目的：为完善我国“互联网+”医疗服务医保支付政策提供参考。方法：从政策工具、参与主体和政策落点三个维度,分析我国31个省份已出台的“互联网+”医疗服务医保支付相关政策的分布特征,共收集政策文件58份,形成1 585个文本条目。结果：政策工具（X维度）共筛选597个文本条目,其中,供给型、需求型、环境型分别占20.6%、16.6%和62.8%。参与主体（Y维度）共筛选574个文本条目,政策落点（Z维度）共筛选414个文本条目。结论：政策工具存在结构性失衡,应提升互补性和协调性;参与主体的政策工具应用差异较大,应深化主体间的分工协同;政策落点的实践性不强,应加强环节间的紧密衔接;地区间政策分布不够均衡,应因地制宜优化政策设计。     

政策工具视角下我国基本公共卫生服务均等化政策研究

目的：通过对基本公共卫生服务均等化政策的量化分析,全面了解其总体特征、政策工具组合运用情况,为促进我国基本公共卫生服务均等化政策完善提供建议。方法：以2009—2022年中央政府发布的促进基本公共卫生服务均等化的政策为研究对象,构建“政策工具(X维度)—利益相关方(Y维度)—政策过程(Z维度)”三维政策分析框架,开展政策内容分析。结果：供给型政策工具比例合理、政策重点立足于政府部门和政策执行阶段;主要运用公共卫生项目推进,重视基层医疗机构能力提升,并给予资金、人才支持。但存在总体结构失调、利益主体政策格局失衡和政策阶段关注不均等问题。建议：优化政策工具内部结构、对利益相关方投入多元化政策关注及合理布局政策阶段。     

Designing of the Electromechanical Drive for Automated Hot Plate Welder Using Load Optimization with Genetic Algorithm

Drive and conveyor belts are widely used in the mining and processing industry. One of the types often used is the belt with a cross-section and a diameter of several millimeters, made of weldable thermoplastic elastomer. Their production process requires the joining of the ends to obtain a closed loop. This operation is often performed by butt welding using the hot plate method. Taking into account the industrial requirements, the authors made an effort to design the automated welding machine for this type of belt. The work that had been conducted was finished with the implementation of the device for serial belt production. One of the stages of the design process of the welding machine consisted of developing a solution for the electromechanical drive system. The paper presents a design and the selection of the key components of the drive system, in particular, the electrical executive elements. Firstly, on the basis of the functional requirements of individual working mechanisms, the kinematic structure of the drives was developed, and the influence of the workload on power consumption was described. Then, using known technological parameters, experimental research of the plasticization operation was performed. On the basis of the results obtained, a mathematical model of the correlation between the plasticization force and technological parameters was derived. Using the derived model, the optimization of the technological parameters was made by using a genetic algorithm. The work led to the choice of an effective electric motor, which is the main component of the designed drive system.     

用gap-PCR筛查α-珠蛋白合成障碍性贫血基因携带者的评价

目的评价gap-PCR作为α-珠蛋白合成障碍性贫血(简称α-地贫)基因筛查技术的可行性。方法以双盲试验对随机抽取的353份血样同时采用gap-PCR筛查技术和血液学分析法分别检测α-地贫基因型和表型。结果353份样品中,检出3种常见α-地贫基因--SEA、--α3.7、--α4.2分别为23例、8例、3例,总α-地贫基因携带率为9.63%(34/353)。而血液学表型检查法仅查出α-地贫23例,即漏检11例。结论gap-PCR分子筛查技术较血液学筛查法更具有特异性和可靠性,可作为临床进行α-地贫基因携带者(尤其是静止型α-地贫)筛查的一线技术。     

Shared genetic influences on resting‐state functional networks of the brain

The amplitude of activation in brain resting state networks (RSNs), measured with resting‐state functional magnetic resonance imaging, is heritable and genetically correlated across RSNs, indicating pleiotropy. Recent univariate genome‐wide association studies (GWASs) explored the genetic underpinnings of individual variation in RSN activity. Yet univariate genomic analyses do not describe the pleiotropic nature of RSNs. In this study, we used a novel multivariate method called genomic structural equation modeling to model latent factors that capture the shared genomic influence on RSNs and to identify single nucleotide polymorphisms (SNPs) and genes driving this pleiotropy. Using summary statistics from GWAS of 21 RSNs reported in UK Biobank (N = 31,688), the genomic latent factor analysis was first conducted in a discovery sample (N = 21,081), and then tested in an independent sample from the same cohort (N = 10,607). In the discovery sample, we show that the genetic organization of RSNs can be best explained by two distinct but correlated genetic factors that divide multimodal association networks and sensory networks. Eleven of the 17 factor loadings were replicated in the independent sample. With the multivariate GWAS, we found and replicated nine independent SNPs associated with the joint architecture of RSNs. Further, by combining the discovery and replication samples, we discovered additional SNP and gene associations with the two factors of RSN amplitude. We conclude that modeling the genetic effects on brain function in a multivariate way is a powerful approach to learn more about the biological mechanisms involved in brain function.