Association and linkage with quantitative traits

This paper examines two approaches for the analysis of quantitative traits: (1) association studies and (2) linkage studies. The trait studied was Q1 from simulated Problem 2 data set in Genetic Analysis Workshop 9. Our purpose was to evaluate associations present in the data, to identify nongenetic and genetic predictors of the trait, and to explore the simulated genome for linkage. Through the association study, we found evidence for the primary major gene associated with this trait. The linkage study found evidence of residual genetic effect acting through other traits. Adjustments of Q1 for Q2 and Q3 led to a failure to find significant effects of MG2 and MG3. This supports the suggestion that adjustment for genetically influenced traits for effects of other genetic traits can reduce the power to detect major gene effects. In summary, we detected the major gene directly associated with the trait of interest through association studies. Linkage analysis detected evidence for two other genes associated to a lesser degree with the trait. © 1995 Wiley-Liss, Inc.     

Mammographic screening: case-control studies.

BACKGROUND: The case-control design can be used to evaluate the benefit of cancer screening programmes. MATERIALS AND METHODS: This paper outlines the main methodological features of the case-control design in this context, and indicates some potential biases. It also reviews the existing case-control literature on mammographic screening. RESULTS: Case-control studies consistently indicate a reduction of approximately 50% in breast cancer mortality associated with mammography. This result indicates greater benefit than shown in randomised trials; however, one should recognise that trials indicate effectiveness whereas case-control studies indicate efficacy. The two types of evidence are broadly compatible when one allows for screening non-compliance and contamination in the randomised trials. CONCLUSIONS: The case-control evidence supports and is consistent with the findings of randomised trials of mammography. Effectiveness estimates from trials indicate the benefit of screening to the population as a whole, and are pertinent to the public policy debate as to the value of offering screening. In contrast, case-control studies indicate benefit to actual screening participants. As such, case-control estimates of efficacy are appropriate for individual decision-making by women about their use of mammography when it is potentially available to them.     

针刺对海洛因依赖的脱毒疗效及其防复吸潜力的临床研究

目的 比较针刺、针刺加阿片、阿片加丁丙诺啡及阿片加韩氏戒毒仪4种方法的脱毒疗效及其对脱毒末期稽延性戒断症状和心理渴求的影响。方法 应用戒断症状量表观察脱毒疗效，应用视觉类比量表(VAS)研究心理渴求程度。结果 针刺改善海洛困依赖者戒断症状的优势主要表现在治疗的第6天以后，改善渴求心理的优势表现在第8天以后，且无明显副作用。结论 针刺具有防复吸潜力。可作为解决稽延性戒断症状和消除心理依赖的治疗方法。     

福建省消除碘缺乏病综合干预策略与措施的研究

目的探讨福建省消除碘缺乏病的综合干预策略与措施。方法实施以盐田废转、目标人群健康教育和健康促进为主要干预措施的综合干预方法。结果实现了以省为单位消除碘缺乏病的目标：在项目的实施期间，福清市、同安区、华安县、石狮市、晋江市、平和县等项目县达到消除碘缺乏病标准；项目地区居民合格碘盐食用率大幅度提高；全省碘盐销量从1997年的9．8万吨提高到2005年的16．65万吨。结论消除碘缺乏病综合干预项目有力促进了福建省消除碘缺乏病的进程，提高了居民合格碘盐的食用率。     

腹腔镜辅助下切除低位直肠癌25例报告

目的探讨低位直肠癌采用腹腔镜辅助切除和用疝补片修补盆底腹膜的可行性及预防输尿管、骶前血管损伤的方法。方法对2004年4月-2006年10月我院胃肠外科在腹腔镜辅助下根治性切除低位直肠癌25例的临床资料进行回顾性分析。结果在腹腔镜辅助下完成手术24例，中转手术1例。手术时间平均为3．8h。本组无术后死亡病例。术中、术后发生输尿管损伤、骶前血管损伤出血和造瘘口狭窄各1例。术后标本检测淋巴结数目4～17个（中位数9个）均无转移报告。结论腹腔镜辅助下切除低位直肠癌安全可行，并有术后肠功能恢复快、肠粘连发生少及避免腹部切口感染的优点。     

微创穿刺术治疗基底节区脑出血临床随机对照研究

目的评价比较微创穿刺血肿粉碎清除术与内科保守治疗两种方法治疗基底节区脑出血(25～40m l)的疗效异同。方法采用多中心、随机对照试验的方法,42个参研医院共随机入选465例基底节区脑出血患者,根据纳入与排除标准共排除88例,其中资料不全者16例;不符合入选标准者72例,分别为Glasgow评分≤8分(64例)、术前出血量>40m l(7例)、从发病到达急诊室时间>72h(1例)。评价治疗14d时两组患者神经功能缺损程度和日常生活活动能力、治疗3个月时的日常生活活动能力以及3个月和住院期间病死率。结果最终符合入组标准的病例数为377例,其中微创治疗组195例,对照组182例。微创治疗组患者于治疗14d时,神经功能改善明显优于对照组(χ2=7.931,P=0.02);治疗3个月时达良好功能状态的患者比例明显多于对照组(35.91%vs21.82%;χ2=8.294P=0.004)。微创治疗组病,残率明显低于对照组(40.88%vs63.03%,χ2=16.948,P<0.01);两组病死率间差异无显著性意义(6.67%vs8.79%)。结论与单纯内科保守治疗相比,应用微创穿刺血肿粉碎清除术治疗基底节区小血肿不增加病死率,并可明显提高脑出血患者的日常生活活动能力,降低病残率。     

山西省运城地区流行性乙型脑炎的流行病学及临床特点

目的对2006年山西省运城地区流行性乙型脑炎（乙脑）进行流行病学及临床特点分析。方法收集79例确诊为乙脑的住院患者及相关资料，对流行病学特征、临床特点、实验室检查及治疗转归进行综合分析。结果乙脑患者以中、老年居多，占78．5％；发病季节集中于7、8、9月份；农民69例，占87．3％。所有患者均有发热；73例患者有意识障碍，占92．4％；27例有呼吸衰竭，占34．2％；乙脑特异性IgM抗体检测阳性率为85．1％。20例患者出现并发症，占25．3％。出院时完全康复37例，占46．8％；死亡14例，占17．7％；好转和自动出院分别为12和16例。7例（8．9％）留有不同程度的神经功能障碍。结论流行病学特征及临床特点是诊断乙脑的重要依据。     

云南省宁蒗县不明原因猝死病例调查研究

目的探讨云南省宁蒗县不明原因猝死病例的死因。方法对云南省宁蒗县不明原因猝死病例进行现场流行病学调查,采集样本进行病理学、病毒学等相关检验及分析研究。结果猝死病例的临床表现类似阿-斯综合征发作,心电图示窦性心动过速、Q-T间期延长、ST段改变、室颤,病理检验主要以心肌间质水肿、弥漫性炎细胞浸润、心肌纤维断裂、心肌灶性坏死以及其他脏器炎细胞浸润等改变为主;同发病例的临床表现亦类似阿-斯综合征发作,心电图示Q-T间期延长、室扑,粪便标本病毒分离阴性,但是从中检测到了埃可病毒11型(ECHO11)的基因片段。结论猝死病例及同发病例与既往报道的云南地方性爆发性心肌炎类似,心肌炎性改变可能诱发快速心律失常,引起阿-斯综合征发作,最后导致发病甚至猝死。     

Simulating realistic zero loop pedigrees using a bipartite Prufer code and graphical modelling.

Graph algorithms previously developed by the authors are adapted to simulate pedigrees similar to those used in genetic linkage studies which associate disease phenotypes with specific genomic locations. Pedigrees are chosen uniformly at random from the set of those with specified numbers of individuals and matings and which contain no loops. Summary statistics from pedigrees generated in this way can be used to check real pedigrees for anomalies due to biased sampling or phenotypic effects on the pedigree structure.