一个遗传性智力迟缓家系的分析

目的 寻找由DNA损伤引起的人类表型缺陷，为人类遗传资源的收集与保藏以及人类基因结构与功能的研究打下基础。方法 通过实地调查得到表型缺陷家系，然后进行系谱分析。结果 得到一个遗传性智力迟缓家系，3代11位成员中有2例患者。结论 遗传性智力迟缓是由DNA损伤引起的人类表型缺陷；该病症符合X-连锁隐性遗传。     

SAGE遗传分析系统的功能及应用

SAGE是集多功能于一体的医学遗传学群体与家系资料计算机分析系统。本文概述SAGE系统的主要功能及应用环境。重点介绍了FCOR2和TDTEX两个功能模块的数学原理和使用方法。应用TDTEX模块 ,我们发现微卫星标记 85ca与小儿失神症存在连锁不平衡 ,提示在该位点附近存在小儿失神症的易感基因     

阈值校正方式对PET脑显像统计参数图分析显示结果的影响

目的 探讨各种阈值校正方法对统计参数图(SPM)软件统计比较结果显示的影响.方法 利用Hoffman标准脑模型制作缺损模型PET成像与正常模型PET成像,进行统计参数图的统计比较.并选取脑梗死患者与健康检查者进行统计参数图的统计比较.结果 校正与非校正产生的结果有差异,其中族错误率(FWE)校正(P=5×10-2)得到的统计分析结果激活区最少及最小,其次是错误发现率(FDR)校正(P=5×10-2),非校正方式(P=1×10-3)得到的激活区最多及最大.但FDR校正效果不稳定,有时不如不校正.结论 统计参数图软件中FWE校正方法可明显降低假阳性,得到的结果可信度稳定地高于非校正方法.     

Phenomenology and family history in DSM-III psychotic depression

Depressed inpatients with psychotic features were compared to those without them in terms of demographic features, depressive symptoms at intake and family history. These variables were then used to compare patients with mood-congruent psychotic features to those with mood-incongruent psychotic features. Patterns of familial psychopathology were similar for psychotic and non-psychotic patients. In accord with other studies, the families of mood-incongruent patients had slightly more schizophrenia and significantly less depression than did the families of mood-congruent patients. Depressive symptoms, particularly those used to define major depression and melancholia, were more severe in psychotic patients. Moreover, these particular depressive symptoms were more likely to distinguish mood-congruent from mood-incongruent patients than were other depressive symptoms. Thus mood-congruent psychotic features accompanied a more typical depressive syndrome than did mood-incongruent psychotic features.     

Neuroendocrine and Cardiovascular Stress Reactivity in Middle-Aged Normotensive Adults with Parental History of Cardiovascular Disease

Neuroendocrine and cardiovascular stress reactivity was studied in healthy middle-aged individuals whose parental history included essential hypertension and/or myocardial infarction and a control group without parental history of cardiovascular disease. All subjects completed a rest session (1 hour) and a stress session (1 hour). The stress session included behavioral (mirror image tracing, mental arithmetic, and the Stroop color word conflict test) and physical stressors (the cold pressor test and isometric exercise). Systolic and diastolic blood pressures and heart rate were recorded at baseline before and during all stressors. Specimens for determination of urinary catecholamines and cortisol were sampled after the rest and stress sessions respectively. Generally, a parental history of hypertension but not of myocardial infarction influenced neuroendocrine and cardiovascular stress reactivity. A family history of hypertension was associated with exaggerated epinephrine, norepinephrine, and cortisol excretion during stress and with enhanced heart-rate reactivity to behavioral (mental arithmetic and mirror image tracing) but not to physical stressors (isometric exercise or the cold pressor test). We conclude that individuals with a family history of hypertension tend to display exaggerated cardiovascular and neuroendocrine reactivity to stress.     

成都市家庭医生服务现状的定性研究

目的 本研究针对成都市基层医疗卫生服务机构,调查分析了家庭医生服务开展现况、存在的问题,以及家医服务平台的建设情况并提出了改进建议。方法 本研究共抽取了成都市六个基层社区卫生服务机构,对每家机构的1名管理人员和1个家庭医生团队分别进行深入访谈和专题小组访谈,调查时间为2020年12月—2021年2月。结果 成都市双向转诊取得一定成效,但下转难情况依然突出;有偿签约效果不好,居民就诊观念需转变;基层卫生技术人员不足,家医服务增加了日常工作量;家医信息化平台存在诸多问题,功能亟需改善;家医的绩效考核制度有一定激励作用,但仍需完善;基层卫生投入不足,家医政策落地难。结论 规范分级诊疗秩序,畅通双向转诊通道;加强官方媒体宣传力度,转变居民就诊观念;提升基层职业吸引力,培养优质人才;加强信息化建设,完善家庭医生信息化服务平台;健全家庭医生绩效考核制度,调动工作积极性;完善家医配套政策与措施,强化基层机构服务能力。     

Independent Early Childhood Education Centers’ Experiences Implementing the Revised Child and Adult Care Food Program Meal Pattern Standards: A Qualitative Exploratory Study

BackgroundNationally, approximately one-third of early childhood education centers participating in the Child and Adult Care Food Program (CACFP) are independently owned and operated (ie, not owned by a corporation, not affiliated with Head Start, and with no food program sponsor). Independent providers are less likely to meet CACFP standards and best practices and would benefit from additional support and technical assistance.ObjectiveTo explore independent early childhood education center key informants’ (KIs) (ie, directors or relevant staff) perspectives on implementing the revised CACFP standards.DesignFollowing qualitative exploratory design, semistructured, in-depth, telephone interviews were conducted with KIs individually.Participants/settingIn summer 2018, 30 randomly sampled KIs from independent CACFP-participating early childhood education centers serving children ages 2 to 5 years nationwide were interviewed. Participants were sampled from respondents to a previously completed nationwide survey of providers.Main outcomesKIs’ perspectives on the CACFP program and revised meal pattern standard implementation.Analysis performedAfter audio recordings were professionally transcribed and reviewed, constant comparative analysis was conducted using Atlas.ti v8 qualitative software (Atlas.ti. version 8 for Windows, 2018, Scientific Software Development GmbH).ResultsKIs indicated that program benefits (eg, health and nutrition benefits, reimbursement, guidelines, and training) outweighed challenges experienced. Challenges associated with revised CACFP standards implementation (eg, availability or acceptability of new, creditable foods) were impacted by enhanced CACFP standards status, reported revised standards, and availability or utilization of outside support. KIs desired more contact with their state representative. KIs found the training and technical assistance on the revised standards useful and suggestions to enhance future training and technical assistance (eg, increasing accessibility, training resources, and audience-specific training).ConclusionsOverall, KIs desired additional resources, training, and increased communication from CACFP state representatives specific to CACFP-approved and reimbursable products, menu ideas, recipes, and cooking demonstrations. The present study suggests that a more tailored training and technical assistance approach is necessary as reported benefits, challenges, and program needs varied based on state-enhanced CACFP standards, reported familiarity with the revised meal pattern, and reported outside support.     

A scoping Review of tools used to assess patient Complexity in rheumatic disease

ObjectivePatients with rheumatic diseases often have multiple comorbidities which may impact well‐being leading to high psychosocial complexity. This scoping review was undertaken to identify complexity measures/tools used in rheumatology that could help in planning and coordinating care.MethodsMEDLINE, EMBASE and CINAHL were searched from database inception to 14 December 2019 using keywords and Medical Subject Headings for “care coordination”, “complexity” and selected rheumatic diseases and known complexity measures/tools. Articles describing the development or use of complexity measures/tools in patients with adult rheumatologic diagnoses were included regardless of study design. Included articles were evaluated for risk of bias where applicable.ResultsThe search yielded 407 articles, 37 underwent full‐text review and 2 were identified during a hand search with 9 included articles. Only 2 complexity tools used in populations of adult patients with rheumatic disease were identified: the SLENQ and the INTERMED. The SLENQ is a 97‐item patient needs questionnaire developed for patients with systemic lupus (n = 1 study describing tool development) and applied in 5 cross‐sectional studies. Three studies (a practice article, trial and a cross‐sectional study) applied the INTERMED, a clinical interview to ascertain complexity and support coordinated care, in patients with rheumatologic diagnoses.ConclusionsThere is limited information on the use of patient complexity measures/tools in rheumatology. Such tools could be applied to coordinate multidisciplinary care and improve patient experience and outcomes.Patient contributionThis scoping review will be presented to patient research partners involved in co‐designing a future study on patient complexity in rheumatic disease.     

我国家庭医生服务签约意愿相关因素的Meta分析

目的探讨我国家庭医生服务签约意愿的相关因素,为家庭医生服务实践提供参考。方法检索PubMed、Embase、Cochrane Library、中国知网数据库（CNKI）、万方数据库、维普期刊数据库中公开收录的关于我国家庭医生服务签约意愿的横断面研究,提取相关数据后运用Stata 15软件进行Meta分析。结果最终纳入21篇文献,累计调查人数23 727人,签约家庭医生服务12 328人,签约率为51.96%。Meta分析显示,年龄≥60岁、有医疗保险、有婚姻史、有慢病、知晓家庭医生签约服务、接受社区首诊是家庭医生服务签约意愿的促进因素,民族为汉族、自评健康状况好或者一般是家庭医生服务签约意愿的阻碍因素。结论我国家庭医生服务签约仍有进一步发展空间,对于汉族、自评健康状况好或者一般的人群需要采取更多的鼓励措施。     

RBRVS-KPI模式下公立医院绩效考核体系构建及应用

目的探讨如何将以资源为基础的相对价值比率（RBRVS）与关键绩效指标法（KPI）相结合,运用于公立医院绩效考核体系实践中。方法分析样本医院绩效考核体系的应用效果,根据医院总体目标,经过点值测算、指标选择,建立了一套具有医院特色的改良型RBRVS-KPI模式绩效考核体系。结果经实践,医疗质量和运行效率大幅度提高,在一定程度上促进了医院管理的精细化。结论RBRVS-KPI模式下的绩效考核体系较唯财务导向的绩效模式更能体现医护人员劳动价值,值得探索与推广。