酒依赖共病双相障碍患者暴力攻击行为与GluR6基因多态性关联分析

目的探讨谷氨酸受体-6基因rs6922753、rs2227283多态性与酒依赖共病双相障碍患者暴力攻击行为之间的关系。方法入组对象按照民族及有无暴力攻击行为分组。采用聚合酶链式反应(PCR)产物直接测序的方法检测424例酒依赖共病双相障碍患者GluR6基因rs6922753、rs2227283多态性分布。应用SPSS17.0软件包分析基因多态性与酒依赖合并双相障碍导致的暴力攻击行为的相关性。结果汉族与维吾尔族酒依赖共病双相障碍患者有暴力攻击行为组与无暴力攻击行为组rs6922753位点等位基因频率差异无统计学意义(χ~2=1.261,P=0.262;χ~2=0.315,P=0.574)。两民族两组rs6922753位点基因型频率差异无统计学意义(χ~2=1.383,P=0.501;χ~2=0.346,P=0.841)。汉族与维吾尔族酒依赖共病双相障碍患者有暴力攻击行为组与无暴力攻击行为组rs2227283位点等位基因频率差异无统计学意义(χ~2=0.114,P=0.735;χ~2=0.128,P=0.721)。两民族两组rs2227283位点基因型频率差异无统计学意义(χ~2=0.169,P=0.919;χ~2=0.123,P=0.940)。结论酒依赖共病双相障碍患者暴力攻击行为与谷氨酸受体6 rs6922753、rs2227283两位点基因多态性可能不具有关联性。     

强直性脊柱炎易感性与IL-1F10基因多态性关系

目的探讨强直性脊柱炎易感性与白细胞介素-1F10(IL-1F10)基因中rs6743376和rs6761276位点基因多态性的关系。方法收集2007-2008年安徽医科大学附属第一医院门诊确诊的强直性脊柱炎患者161例和同期正常健康献血人群对照178人,采用基于高温连接酶的连接酶检测反应(LDR)方法检测其IL-1F10 rs6743376和rs6761276位点的单核苷酸多态性,分析比较其等位基因频率及基因型频率在2组中的分布。结果病例组和对照组的rs6743376位点A等位基因频率分别为74.2%,71.6%;C等位基因频率分别为25.8%,28.4%;2组的rs6761276位点C等位基因频率分别为21.1%,18.0%;T等位基因频率分别为78.9%,82.0%;2个位点等位基因在2组人群中的分布差异均无统计学意义(均P0.05);基因型频率在2组间的分布差异也无统计学意义。结论安徽籍汉族人群强直性脊柱炎易感性与IL-1F10基因rs6743376和rs6761276位点单核苷酸多态性无关。     

钙黏素23基因多态性与噪声性听力损失易感性关系研究

目的探讨钙黏素23(CDH23)基因多态性与噪声性听力损失易感性关系。方法采用病例对照研究方法对254名接触噪声工人进行研究,聚合酶链反应-限制性片断长度多态性方法检测CDH23基因单核苷酸多态性位点rs1227049和rs1227051的多态性。结果rs1227049位点在听损组CC、CG和GG基因型频率分别为39.4%、15.0%和45.6%,等位基因C和G的频率分别为46.9%和53.1%;对照组3种基因型的频率分别为51.2%、19.7%和29.1%,等位基因C和G的频率分别为60.9%和39.1%。rs1227051位点在听损组TT、CT和CC基因型频率分别为82.7%、17.3%和0,等位基因T和C的频率分别为91.3%和8.7%。对照组3种基因型的频率分别为89.0%、11.0%和0,等位基因T和C的频率分别为87.0%和13.0%。两位点的基因型分布及其等位基因频率在听损组和对照组之间差异均无统计学意义(P>0.05)。采用多因素Logistic回归分析对个体间年龄、工龄和累积噪声暴露量等因素进行校正后,也未发现两个单核苷酸位点任一基因型的改变会引起噪声性听力损失的危险度有显著性提高(P>0.05)。结论本研究还不能认为CDH23基因rs1227049和rs1227051两个单核苷酸多态性位点是噪声性听力损失易感性的危险因素。     

TIRAP基因多态性与儿童反复下呼吸道感染的关联性

目的探讨Toll/白细胞介素-1受体结构域衔接蛋白(TIRAP)与儿童反复下呼吸道感染(RRTI)易感性的关系及临床价值。方法选择酒泉市人民医院儿科2018年8月-2020年8月收治的反复呼吸道感染患儿102例纳入RRTI组。选择同期于医院进行治疗的社区获得肺炎(CAP)患儿80例为CAP组,选择同期医院进行体检的健康儿童80名作为对照组,聚合酶链式扩增反应检测TIRAP基因rs8177374位点基因分型。分析三组基因型及等位基因分布频率,将RRTI患儿按病情分为病情严重组和病情较轻组,比较不同病情程度RRTI患儿TIRAP基因rs8177374位点基因分布频率差异,并对不同基因RRTI患儿的临床特征进行分析。结果 RRTI组TIRAP基因rs8177374位点CC、CT基因型、C等位基因频率分别为36.27%、34.31%、53.43%均高于CAP组及对照组(P0.05); CAP组与对照组TIRAP基因rs8177374位点基因型、等位基因分布频率比较差异无统计学意义(P0.05); RRTI组病情严重患儿CC基因型、C等位基因频率分别为51.28%、67.95%均高于病情较轻组(P0.05),CC/CT型与TT型性别、年龄、病程、年平均发作次数、家族史、呼吸困难比较差异无统计学意义,CC/CT型C-反应蛋白(CRP)水平高于TT型(P0.05)。结论外周血TIRAP基因rs8177374位点CC基因型、T等位基因频率显著增加本地区儿童RRTI的易感性。     

乌鲁木齐地区维吾尔族ORMDL3基因单核苷酸多态位点与哮喘易感性的研究

目的通过对乌鲁木齐地区维吾尔族哮喘患者和正常人群中血清类黏蛋白1样蛋白3(ORMDL3)基因单核苷酸多态(SNP)位点rs7216389、rs12603332基因型的检测,探讨rs7216389、rs12603332位点与哮喘患者易感性的关系。方法利用SNaPshot技术检测100例哮喘患者和93例对照组ORMDL3基因多态位点rs7216389、rs12603332基因分型及等位基因分布频率,并分析2组等位基因构成比。结果 rs7216389位点和rs12603332位点2组基因型分布频率差异均有统计学意义(X~2=7.029,P<0.05;X~2=11.367,P<0.05)。rs7216389位点2组A、G等位基因频率分别为61.5%、38.5%和74.2%、25.8%;rs12603332 2组G、A等位基因频率分别为58.5%、41.5%和74.7%、25.3%,差异也均有统计学意义(P<0.05)。结论 ORMDL3基因rs12603332位点和rs7216389位点多态性与新疆地区维吾尔族人群哮喘易感性相关,rs12603332位点的GG型和rs7216389位点的AA型可能是哮喘病的易感基因型。     

质膜Ca2+-ATP酶异构体2基因多态性与噪声性听力损失易感性的关系

目的探讨质膜Ca2+-ATP酶异构体2(PMCA2)基因多态性与噪声性听力损失的关系.方法采用横断面流行病学研究方法,对194名噪声暴露作业工人进行调查和听力测试,按听力学评价的结果将其分为听力损失组和听力正常组;用多聚酶链反应-限制性片断长度多态性(PCR-RFLP)方法和等位基因特异扩增法(ASA)检测其PMCA2基因上rs2289274和rs6790640两个单核苷酸位点的多态性.结果在93名噪声性听力损失的工人中,rs2289274位点AA、AG和GG基因型的频率分别为16.1%、40.9%和43.0%,等位基因A和G的频率为36.6%和63.4%;在101名听力正常的工人中,其基因型频率分别为15.8%(AA)、32.7%(AG)和51.5%(GG),等位基因频率为32.2%(A)和67.8%(G).rs6790640位点在噪声性听力损失组CC、CT和TT基因型的频率分别为0、 82.8%和17.2%,等位基因C和T的频率为41.4%和58.6%;在听力正常组的基因型频率分别为1.0%(CC)、 76.2%(CT)和22.8%(TT); 等位基因频率为39.1%(C)和60.9%(T).两位点的基因型分布及其等位基因频率在噪声性听力损失组与听力正常组之间差异均无显著性(P＞0.05).采用多元Logistic回归对两组间年龄、性别、吸烟状况、爆震史和累积噪声暴露量等因素进行校正后,未发现两位点中任一基因型的噪声性听力损失的危险度有显著性升高(P＞0.05).结论 PMCA2基因rs2289274和rs6790640两个单核苷酸位点的多态性可能不是噪声性听力损失的遗传易感性因素.     

新生儿细菌性脑膜炎与TLR2/9基因多态性的关系

目的探讨新生儿细菌性脑膜炎(BM)感染Toll样受体2/9(Toll like receptor 2/9,TLR2/9)基因多态性。方法选择南通市妇幼保健院儿内科2018年9月-2020年8月收治的BM新生儿75例作为BM组,选择同期医院出生的健康新生儿80例作为对照组,留取两组新生儿脐带血标本,提取全血DNA后,采用限制性片段长度多态性聚合酶链反应(PCR-RFLP)检测两组患儿外周血中TLR2基因rs5743708位点和TLR9基因rs352140位点基因型分布,比较不同基因型BM发病时间及预后。结果 BM组患儿TLR2基因rs5743708位点AA基因型频率、A等位基因频率(16.00%、36.67%)及TLR9基因rs352140位点TT基因型、T等位基因频率(24.00%、41.33%)高于对照组,CC基因型频率(41.33%)低于对照组(P0.05);校正性别、出生时孕周、出生时体质量等因素后,Logistic回归分析结果显示,携带TLR2基因rs5743708位点AA基因型、A等位基因以及TLR9基因rs352140位点TT基因型、T等位基因是新生儿发生BM的影响因素(P0.05);TLR2基因rs5743708位点和TLR9基因rs352140位点不同基因型BM患儿发病时间及预后比较分布无统计学意义。结论 TLR2基因rs5743708位点和TLR9基因rs352140位点基因多态性与本地区新生儿对BM易感性有关,其中TLR2基因rs5743708位点A等位基因和TLR9基因rs352140位点T等位基因为易感基因。     

C9orf3基因多态性与多囊卵巢综合征遗传易感性的相关性研究

目的:探讨C9orf3基因多态性(rs3802457)与多囊卵巢综合征(PCOS)患者遗传易感性的关系。方法:收集就诊于广州医科大学附属第一医院的106例PCOS患者与41例健康女性的乙二胺四乙酸(EDTA)抗凝全血,提取核酸后,对C9orf3基因通过聚合酶链反应(PCR)扩增后进行Sanger测序,统计C9orf3基因rs3802457位点的基因多态性,同时对比PCOS组与对照组的临床及血脂生化指标。结果:C9orf3基因rs3802457位点有3种基因型,分别为CC、CT和TT。PCOS组基因型分布频率分别为87.7%、12.3%和0%,对照组分别为68.3%、29.3%和2.4%;PCOS组的C、T等位基因分布频率分别为93.9%和6.1%,对照组分别为82.9%和17.1%;2组基因型和等位基因分布频率比较,差异均有统计学意义(P0.05),并且等位基因C在PCOS组中的分布高于对照组,等位基因T低于对照组。PCOS组患者体质量指数(BMI)、腰臀比(WHR)及三酰甘油(TG)水平均高于对照组,差异有统计学意义(P0.05);而2组总胆固醇(TC)、高密度脂蛋白(HDL)和低密度脂蛋白(LDL)水平比较,差异无统计学意义(P0.05)。CC基因型PCOS患者HDL水平低于CT基因型PCOS患者,差异有统计学意义(P0.05)。结论:C9orf3基因多态位点rs3802457可能与PCOS发病相关。     

Sp110基因5'-UTR rs11679983 SNP与肺结核易感相关性研究

[目的]探讨Sp110基因5'-UTR rs11679983位点单核苷酸多态性对重庆籍汉族人群肺结核易感性的影响.[方法]采用病例一对照研究,选择100名初治涂阳肺结核患者和106名非结核病对照,运用ASA-PCR技术检测研究对象的基因型,比较Sp110基因5'-UTR rs11679983位点基因型频率及等位基因频率分布. [结果]Sp110基因5'-UTR rs11679983位点A/A、A/G、G/G基因型频率在病例组分别为21.00%、56.00%、23.00%;对照组分别为41.51%、54.72%、3.77%;两组间基因型分布差异有统计学意义(X2=18.11,P<0.001).Logistic回归分析显示rs11679983A/G与肺结核相关(OR=2.84,95%CI:1.76～4.59,P<0.001). [结论]Sp110基因rs11679983位点基因多态与肺结核易感性相关.     

CD209、CD209L基因多态性与HBV宫内感染的关系研究

目的探讨CD209、CD209L基因多态性与HBV宫内感染的关系。方法选取2016年5月-2017年8月在该院分娩的乙肝大三阳孕妇90例,分为观察组(宫内感染) 41例和对照组(无宫内感染) 49例,检测两组CD209 SNP位点(rs2287887)和CD209L SNP位点(rs11260029)多态性。结果 CD209 SNP位点(rs2287887)基因型分别为AA型、AC型和CC型; CD209L SNP位点(rs11260029)基因型分别为CC型、CT型和TT型;观察组和对照组CD209 SNP位点(rs2287887)基因型和等位基因分布比较差异有统计学意义(P0.05),其中观察组CC基因型和等位基因C比例分别为39.02%和57.32%;观察组和对照组CD209L SNP位点(rs11260029)基因型和等位基因分布比较差异有统计学意义(P0.05),其中观察组CC基因型和等位基因C比例分别为26.83%和45.12%。结论 CD209 SNP位点(rs2287887)和CD209L SNP位点(rs11260029)基因多态性可能与HBV宫内感染有一定关系。     

Calcium intake in the elderly: validation of a dietary questionnaire

Epidemiological studies of calcium and osteoporosis have been hampered by the lack of a suitable tool for assessing calcium intake. This report describes a new frequency and amount questionnaire for measuring present and past calcium intake in the elderly. The validity of the questionnaire was tested against two commonly used standards of dietary assessment, five-day duplicate diets and seven-day weighed dietary inventories. The resulting correlation coefficients were, respectively, r = 0.76 and r = 0.69, while that for repeatability was r = 0.84. Furthermore, the questionnaire categorized subjects into thirds of the distribution of intake with almost no gross misclassification. It is suggested that the present findings may be extended to the majority of normal, healthy elderly subjects, implying wide application for the questionnaire in the assessment of calcium intake in the elderly.     

The human drama of genetics: 'hard' and 'soft' media representations of inherited breast cancer

This paper examines media coverage of 'breast cancer genetics', and explores its implications for public understanding. We present a content analysis of coverage in British newspapers and look at a variety of popular forms, including women's magazines, television soap opera and radio drama. Genetic/inherited risk receives a great deal of coverage across a wide range of media formats and outlets. Much of this attention has focused on individuals from 'high risk families' and dilemmas around prophylactic mastectomies. Through examining media coverage, combined with interviews with media personnel and their sources, we show why this story proved so attractive to the media and highlight the different production values which influence coverage. Finally, we introduce preliminary findings from focus group discussions to demonstrate how such 'human interest' framing has engaged audience attention and influenced public understandings. The paper concludes by highlighting the implications for analysing, predicting, and engaging with, media representations of science.     

Worker education in the primary prevention of occupational dermatoses

This paper reports the evaluation of a skin care education programmeconducted on a fine chemicals manufacturing site where over1,000 employees are located. Approximately 60% are involvedin chemical manufacture. Over a 12 month period production staffreceived training in prevention of occupational dermatoses linkedto a site-wide poster initiative. The incidence of new casesof occupational dermatoses fell from 0.055 (70 cases in 1,277employees) to 0.021 (27 cases in 1,277 employees) before andafter the intervention respectively (p<0.0001). After otherfactors such as chemicals handled, observer bias and changesin reporting related to socioeconomic climate were taken intoaccount it is concluded that this study demonstrates the importanceof worker education as a tool for primary prevention of disease.Training materials such as video and poster presentations maybe effectively used in the chemical manufacturing industry asan adjunct to prevention and control of exposure to substanceshazardous to the skin. Such methods may also be used in otherindustries where there are significant risks of dermatoses.     

Regional Variation in Travel-related Illness acquired in Africa,March 1997–May 2011

To understand geographic variation in travel-related illness acquired in distinct African regions, we used the GeoSentinel Surveillance Network database to analyze records for 16,893 ill travelers returning from Africa over a 14-year period. Travelers to northern Africa most commonly reported gastrointestinal illnesses and dog bites. Febrile illnesses were more common in travelers returning from sub-Saharan countries. Eleven travelers died, 9 of malaria; these deaths occurred mainly among male business travelers to sub-Saharan Africa. The profile of illness varied substantially by region: malaria predominated in travelers returning from Central and Western Africa; schistosomiasis, strongyloidiasis, and dengue from Eastern and Western Africa; and loaisis from Central Africa. There were few reports of vaccine-preventable infections, HIV infection, and tuberculosis. Geographic profiling of illness acquired during travel to Africa guides targeted pretravel advice, expedites diagnosis in ill returning travelers, and may influence destination choices in tourism.     

Self-reported health problems among Swedish miners one year after unemployment

Unemployment is considered to be a public health concern sincedeterioration in the health of the unemployed is often anticipated.However, for some groups, such as miners, unemployment mightimprove health due to a cessation of potentially harmful occupationalexposures. This study evaluates the health of 79 miners in oneSwedish iron-ore mine, and 226 age-matched controls from thegeneral population, during one year after the closure of themine. The participants received a questionnaire regarding medicalhistory and subjective symptoms at the beginning of the studyperiod, and after one year. Statistically significant negativeeffects on self-reported health attributable to unemploymentwere not found, although neuropsychiatric symptoms were morecommon among the unemployed miners. The miners reported a statisticallysignificant improvement in grip force (p=0.031). They had asignificantly higher prevalence of symptoms associated withmining related exposures when compared with the population controls;pain in the upper extremities [relative risk (RR)=2.27, 95%confidence interval (Cl)=1.44–3.59), back pain (RR=1.84;Cl=1.237–2.75), vasospastic disease of the fingers (RR=2.05;Cl=1.18–3.57) and obstructive respiratory symptoms (attacksof dyspnea and wheezing: RR=3.67; Cl=1.167–11.6).     

Excès de cas humains et animaux de tularémie en France au cours de l’hiver 2007–2008 : émergence ou phénomène isolé ?

Context

Tularemia is a zoonosis affecting humans and hares in France. We describe the results of surveillance in both species, in 2007 and 2008.

Methods

Human tularemia cases are mandatorily notifiable in France since 2003. In hares, surveillance relies on volunteer hunter associations in all districts of the country. Data from mandatory reports and volunteer surveillance in 2007/2008 were analyzed and compared with previous results.

Results

In 2007/2008, 144 cases were reported in humans and 117 cases in hares. This was a 100% increase compared to previous years. Human cases differed from those of previous years only by the frequency of contact with breeding animals. Human cases without any documented risk exposure were also more frequent.

Conclusion

An increase of tularemia cases occurred in 2007/2008 in both species. Complementary studies are needed to identify the species reservoir in France to understand the causes of this peak of cases.     

深圳公立医院管理体制改革制度设计

深圳公立医院管理体制改革实行政事分开、管办分开,在理事会架构下按法定机构模式组建市医管中心,落实公立医院运营管理自主权.作者从当前公立医院管理体制的弊端入手,介绍了深圳市进行公立医院管理体制改革的基本思路及改革方案设计的主要举措,深入剖析了的改革方案的特点,并对改革效果进行了预测.     

Effects of nitrogen dioxide on red blood cells of rats: Changes in components of red cell membranes during in vivo exposure to NO2

Red cell membranes, prepared from red blood cells of rats exposed to 4, 10, or 20 ppm nitrogen dioxide (NO₂) for 1 to 10 days, were examined for evidence of changes in membrane components. Appreciable changes were not found in contents of phospholipid and cholesterol during exposure to 10 ppm NO₂. By contrast, protein content altered with the time of exposure. Moreover, changes in protein composition were observed by employing sodium dodecyl sulfate — polyacrylamide gel electrophoresis. Twenty-four-hour exposure to NO₂ at the concentration above 10 ppm resulted in a marked increase in the percentage of lysophosphatidylethanolamine (LysoPE) to the total phospholipids. The prolonged exposure to 10 ppm NO₂ gave rise to a further increase in LysoPE, whereas the percentage of phosphatidylethanolamine (PE) showed a gradual decrease. A 1-day exposure to 4.0 ppm NO₂ also caused an increase in sialic acid content and decreases in those of PE and hexose. In addition to contents of these components the percentage of LysoPE increased 5 days after exposure and the elevated values were maintained up to the end of exposure period. These results demonstrate that red blood cells in circulation exhibit different membrane properties in terms of lipid and carbohydrate composition during 10 days of exposure to 4.0 ppm NO₂.     

The design of hazard risk assessment matrices for ranking occupational health risks and their application in mining and minerals processing

Two hazard risk assessment matrices for the ranking of occupational health risks are described. The qualitative matrix uses qualitative measures of probability and consequence to determine risk assessment codes for hazard-disease combinations. A walk-through survey of an underground metalliferous mine and concentrator is used to demonstrate how the qualitative matrix can be applied to determine priorities for the control of occupational health hazards. The semi-quantitative matrix uses attributable risk as a quantitative measure of probability and uses qualitative measures of consequence. A practical application of this matrix is the determination of occupational health priorities using existing epidemiological studies. Calculated attributable risks from epidemiological studies of hazard-disease combinations in mining and minerals processing are used as examples. These historic response data do not reflect the risks associated with current exposures. A method using current exposure data, known exposure-response relationships and the semi-quantitative matrix is proposed for more accurate and current risk rankings.