三个常染色体隐性遗传早发型帕金森病家系的PARKIN基因研究

目的 探讨PARKIN基因与中国人常染色体隐性遗传早发型帕金森病（autosomal recessive early-onset Parkinson’s disease，AREP）家系的关系。方法 对3个AREP家系的6例患者和23位成员进行系统的临床检查并进行PARKIN基因PCR扩增，产物通过变性高压液相色谱（denaturing high—performance liquid chmnatogmphy，DHPLC）进行突变检测，阳性结果标本进行基因测序。结果 所有研究对象的PARKIN基因外显子均扩增成功。DHPLC检测和基因测序发现一个家系中存在PARKIN基因杂合Gly284Arg突变，另一个家系中存在PARKIN基因Ser167Asn多态性，且患者均有环境毒物接触史。结论 PARKIN基因杂合Gly284Arg突变在环境因素的协同作用下可能导致发病。PARKIN基因Ser167Asn多态性是帕金森病的易感因素，汞中毒与其共同作用可能导致发病。     

Safety and efficacy of oral nemonoxacin versus levofloxacin in treatment of community-acquired pneumonia: A phase 3, multicenter,randomized, double-blind,double-dummy,active-controlled,non-inferiority trial

Background/Purpose

Nemonoxacin is a novel nonfluorinated quinolone with excellent in vitro activity against most pathogens in community-acquired pneumonia (CAP), especially Gram-positive isolates. The purpose of this study was to assess the efficacy and safety of nemonoxacin compared with levofloxacin in patients with CAP.

蝰蛇毒压电免疫传感器固定方法的研究

目的：为研制蝰蛇毒压电免疫传感器，研究抗蛇毒抗体固定于石英晶体银电极表面的固定技术。方法：采用马抗蝰蛇毒血清抗体和抗蝰蛇毒鸡卵黄抗体作为生物敏感材料，对比研究了胱胺自组装-PSS反相吸附法和PEI粘附-戊二醛交联法：比较了采用两种固定方法所制的压电免疫传感器的性能。结果：鸡卵黄抗体采用PEI粘附-戊二醛交联法效果较好，其制备的IgY压电免疫传感器检测蝰蛇毒灵敏度为0．5ug／mL；而马血清抗体用胱胺自组装-PSS反相吸附法较好，其制备的IgG’免疫传感器检测蝰蛇毒灵敏度为10ug／mL。结论：以PEI粘附-戊二醛交联法固定抗蝰蛇毒鸡卵黄抗体所制备的蝰蛇毒压电免疫传感器的性能稳定，特异性好，可实现蛇毒的快速检测。     

血管肌纤维母细胞瘤临床病理学观察

目的 探讨血管肌纤维母细胞瘤( angiomyfibroblastoma, AMF )的临床病理特点及其诊断与鉴别诊断.方法 通过对7例AMF的临床表现、组织学观察与免疫组化研究,并复习相关文献总结AMF的临床病理特征及鉴别诊断.结果 7例均为女性,年龄25～52岁,部位在大阴唇(3例)、宫颈管(3例)和腹股沟(1例),大小1.6～6.0 cm;眼观:肿瘤边界清,无包膜,质地韧,切面灰白,局部有黏液感.镜检:肿瘤细胞分布稀疏不一,呈密集的血管区与少细胞的水肿区相交替分布.瘤细胞肥胖,呈梭形或短梭形,可见胞质突起或波浪状弯曲,瘤细胞围绕丰富的血管,大多是薄壁小血管或毛细血管,间质可见胶原束.免疫表型:瘤细胞vimentin和desmin弥漫阳性,α-SMA和CD34局灶阳性,发生于宫颈的3例ER和PR弱阳性,所有病例CK、S-100蛋白阴性.结论 AMF是发生女性外阴、生殖道的良性软组织肿瘤;需要与侵袭性血管黏液瘤、富于细胞性的血管纤维瘤、青春期前外阴纤维瘤、浅表宫颈阴道肌纤维母细胞瘤等软组织肿瘤相鉴别.     

微小RNA-23b-3p通过靶向TGFBR3促进人心房肌成纤维细胞纤维化相关基因表达

目的:探究微小RNA-23b-3p(mi R-23b-3p)对人心房肌成纤维细胞中纤维化相关基因表达的作用及其可能作用靶基因。方法:分离并体外培养房颤患者心耳中原代心房肌成纤维细胞,并用细胞免疫荧光染色实验鉴定;双萤光素酶报告基因实验检测mi R-23b-3p与潜在靶基因转化生长因子β受体3(TGFBR3) 3'端非翻译区(3'-UTR)的结合作用; CCK-8、Ed U染色及Transwell实验检测细胞活力、增殖及迁移能力,RT-qPCR和Western blot法检测TGFBR3及纤维化相关基因的m RNA和蛋白表达。结果:在人心房肌成纤维细胞中过表达mi R-23b-3p不影响细胞的活力、增殖及迁移能力,但可显著增强细胞中纤维化相关基因COL1A1、COL3A1和ACTA2的表达(P 0. 05或P 0. 01)。双萤光素酶报告基因实验显示mi R-23b-3p与TGFBR3 3'-UTR有结合作用。RT-qPCR和Western blot结果证实mi R-23b-3p可在转录水平抑制TGFBR3表达。过表达mi R-23b-3p和沉默TGFBR3均能显著促进人心房肌成纤维细胞中Smad3激活和纤维化相关基因表达(P 0. 05或P 0. 01)。结论:TGFBR3是mi R-23b-3p的作用靶基因,并介导mi R-23b-3p促进心房肌成纤维细胞中纤维化相关基因表达。     

Defining the Core Skills and Activities of the Attending Physician in Post-Acute and Long-Term Care

The American Board of Post-Acute and Long-Term Care Medicine (ABPLM) contracted with a psychometric firm to perform a 3-phase Job Analysis following best practices. Literature was reviewed, a task force of subject matter experts was convened, a survey was developed and sent via Survey Monkey to attending physicians practicing in post-acute and long-term care settings (PALTC). The task force refined a comprehensive list of the tasks, knowledge, and medical knowledge needed in the role of attending physician in PALTC. These items were written as statements and edited until consensus was reached on their accuracy, conciseness, and lack of overlap. Task statements described distinct, identifiable, and specific practice-related activities relevant across multiple care settings. Knowledge statements described previously acquired information considered necessary to effectively perform such tasks. The survey consisted of 260 items, including 21 demographic questions, 115 task statements, 73 knowledge statements, and 72 medical knowledge statements. The survey was disseminated via e-mail invitations to Society for Post-Acute and Long-Term Care (AMDA) members and through an online link available through ABPLM’s website. A total of 389 respondents participated. Survey data were analyzed with statistical analysis software SPSS. For each task and knowledge statement, an Overall Task Rating and Knowledge Rating were developed by combining the importance rating weighted at 65% and (for task) the frequency rating or (for knowledge) the cognitive level weighted at 35%. One task statement and 1 medical knowledge statement had a mean importance rating lower than 2.5 and were dropped from further review, resulting in a final count of 114 task, 73 knowledge, and 71 medical knowledge statements (258 total). The results of this Job Analysis highlight the unique and specific nature of medical care provided by attending physicians across a range of PALTC settings. These findings lay a foundation for Focused Practice Designation or Subspecialty in PALTC and changes in practice and policy.     

社区1~3岁儿童语言发育与屏幕暴露的相关性调查研究

目的 分析研究社区1~3岁儿童语言发育与屏幕暴露的相关性,为儿童屏幕暴露现状提供改进意见。方法 选取2016年1月-2018年7月于本院儿童保健门诊随访的1~3岁幼儿共827例,男童406例,女童421例,平均年龄为(24.5±5.3)月。采用自制式调查问卷,由本科保健医生指导调查对象的父母或抚养人现场完成,并结合Gesell 婴幼儿发育量表评估调查对象语言发育情况。结果 827例儿童中,93例诊断为语言发育迟缓,734例语言发育正常。两组儿童接触屏幕年龄段、儿童性别、家庭情况、母亲文化程度、父亲文化程度、母亲年龄、屏幕暴露时间、入睡是否规律、接触屏幕时家长陪同和限制屏幕暴露时间差异均有统计学意义(P＜0.05),控制混杂因素影响后多因素Logistic回归分析结果显示,屏幕暴露时间>2 h(OR=1.687,95%CI:1.022~2.236,P<0.001)、接触屏幕时无家长陪同(OR=2.035,95%CI:1.588~2.634,P=0.002)、未限制屏幕暴露时间(OR=1.475,95%CI:1.087~2.156,P=0.035)为语言发育迟缓的重要危险因素。结论 长时间的屏幕暴露会影响家庭语言环境和儿童睡眠,不利于儿童的语言发育,建议家长禁止小于18月的儿童接触屏幕,大于18月的儿童在家长陪同讲解下接触屏幕,时间控制在2 h以内,严格避免睡觉前观看电子屏幕。     

Positive microscopic surgical margins: Is there an association with survival in resected small gastrointestinal stromal tumors?

BackgroundFew studies evaluate the relationships between surgical approach, histologic margin, and overall survival in gastrointestinal stromal tumor. We test the hypothesis that margin positive resection is associated with compromised overall survival.MethodsWe queried the National Cancer Data Base to identify patients undergoing resections for gastrointestinal stromal tumors ≤3 cm in size between 2010 and 2015. Multivariable logistic regression was used to identify factors associated with positive microscopic margins on final pathology. Cox proportional hazard methods were used to evaluate factors associated with overall survival.Results2064 patients met inclusion criteria; 135 (6.5%) had a microscopically positive surgical margin. On multivariable regression, minimally invasive approach was not associated with risk of a positive margin (OR 1.06 95% CI [0.71, 1.59]). On Cox analysis, positive margin status was not associated with OS (R1: 1.03, CI [0.46–2.31], reference R0).ConclusionsPositive microscopic surgical margins are not associated with compromised overall survival in patients undergoing resection of small gastrointestinal stromal tumors. Minimally invasive surgical approaches do not compromise oncologic outcomes in these cases.