青少年肥胖及代谢异常与INSIG2基因多态性

目的 研究胰岛素诱导基因2(INSIG2)rs7566605多态性与我国儿童青少年肥胖和代谢异常的相关性.方法 在北京市海淀区选择1 103名7～18岁儿童青少年进行身体和代谢指标测量,并进行rs7566605多态性的基因型鉴定.结果 1 103名儿童青少年rs7566605的突变率(G>C)为35.56%～37.06%,与欧美人群接近.体重正常、超重和肥胖组基因型及等位基因频率差异无统计学意义(P>0.05).分层分析发现,超重组CC基因型携带者的皮褶厚度和体脂百分比高于GG/GC基因型者(P<0.05);肥胖组CC基因型携带者的甘油三酯(TG)平均比GG/GC基因型者高0.21 mmol/L(P=0.014).结论 ISNIG2基因rs7566605多态性与我国儿童超重或肥胖的发生无相关性,但是该多态性对超重和肥胖儿童青少年体脂含量及TG蓄积可能有一定影响.     

青少年肥胖与某单核苷酸多态性的相关性研究

目的探讨我国青少年肥胖与单核苷酸多态性rs7566605的相关性,为进一步研究rs7566605在我国人群中的发生情况提供参考。方法在北京市东城区选择919名14-17岁初中生,进行身体测量和rs7566605基因型鉴定。结果919名青少年rs7566605突变率(G>C)为35.9%,与欧美人接近。体重正常、超重和肥胖组基因型及等位基因频率差异无统计学意义(P>0.05)。进一步比较体重正常和重度肥胖组[体质量指数(BMI)≥30]发现,重度肥胖青少年CC基因型频率明显高于体重正常组,分别为18.5%,10.3%,CC基因型携带者比GC/CC基因型更容易发生重度肥胖(OR=1.101,P<0.05)。CC基因型携带者的BMI平均比GG/GC基因型者高0.88 kg/m2(P<0.05)。结论单核苷酸多态性rs7566605与我国青少年重度肥胖发生有关,CC基因型携带者发生重度肥胖的危险性更大。     

中国人胰岛素受体基因EXON2-2257位点多态性与胰岛素抵抗的关系

目的 从群体角度探讨胰岛素抵抗与胰岛素受体基因多态性的关系。方法 用聚合酶链反应(PCR)对某一特定队列中国人群的胰岛素受体基因第二外显子(EXON2)进行扩增,并用PCR产物直接测序法对EXON2进行了单核苷酸序列分析。结果 在EXON2-2257位点测得单核苷酸多态性,在345人中表现为:纯合CC基因型237人,占68.70％,基因频率0.825;纯合TT基因型13人,占3.77％,基因频率0.175;杂合CT基因型95人,占27.54％,符合Hardy-Weinburg平衡(X2=0.2898,u=3-2=1,0.5相似文献   

腺苷酸环化酶3基因多态性与儿童肥胖的相关性分析

目的探讨腺苷酸环化酶3(ADCY3)基因多态性与儿童肥胖的相关性。方法选取2016年6月—2020年6月于天津市第四中心医院收集的88例单纯性肥胖患儿作为研究对象(观察组);另选取同期在医院做体检的健康儿童95例作为对照组。收集所有研究对象的一般资料;采用连接酶检测反应技术进行单核苷酸多态性分型检测;平衡程度采用Hardy-Weinbery平衡检测;儿童肥胖的影响因素采用logistic回归分析。结果ADCY3基因rs10187348位点基因型包括野生纯合型(GG基因型)、突变杂合型(CG基因型)及突变纯合型(CC基因型);rs4665273位点基因型包括野生纯合型(CC基因型)、突变杂合型(CT基因型)及突变纯合型(TT基因型)。各基因型分布频率服从Hardy-Weinberg平衡定律。与对照组相比,观察组ADCY3基因rs10187348位点CG、CC基因型及C等位基因频率显著升高(P<0.05);rs4665273位点CT、TT基因型及T等位基因频率显著升高(P<0.05)。logistic回归分析显示ADCY3基因rs10187348位点杂合子CG型、纯合子突变CC型及rs4665273位点杂合子CT型、纯合子TT型是儿童肥胖发生的危险因素(P<0.05)。结论血浆中ADCY3基因rs10187348位点杂合子CG型、纯合子突变CC型及rs4665273位点杂合子CT型、纯合子TT型与儿童肥胖的发生密切相关,可导致儿童肥胖风险增高。     

新疆哈萨克族儿童基因rs9930506多态性与超重、肥胖的关联

目的 研究新疆哈萨克族学龄儿童体脂量和肥胖症相关基因(FTO)rs9930506与超重、肥胖的关系.方法 2009年5-6月采用整群抽样法在新疆伊犁哈萨克族自治州选取118名超重、肥胖儿童作为研究对象,对照组为141名体重正常的儿童.应用聚合酶链反应-限制性片段长度多态性技术分析2组儿童rs9930506位点多态性,同时使用自动生化仪酶法检测血糖、血脂,放射免疫法检测胰岛素浓度.结果 rs9930506在超重、肥胖组和对照组中基因型频率分别为:AA型0.458、0.582;AG型0.492、0.397;GG型0.050、0.021.两组AA、AG和GG基因型频率分布差异无统计学意义(x2=4.795,P=0.091),但GG+AG基因型频率在超重、肥胖组(0.542)高于对照组(0.418),差异有统计学意义(x2=3.957,P=0.047);A等位基因频率在超重、肥胖组和对照组分别是0.703、0.780,差异有统计学意义(x2=3.986,P=0.046).超重、肥胖组中GG;+AG基因型人群及AA基因型者的空腹血糖水平分别是(4.93±0.52)、(4.69±0.56)mol/L(t=2.430,P=0.017),臀围分别是(79.70±11.73)、(75.28±11.52)cm(t=2.053,P=0.042),体质指数(BMI)分别是(21.61±2.72)、(19.92±1.98)kg/m2(t=3.891,P=0.000),GG+AG基因型人群空腹血糖水平(t=2.430,P=0.017)、臀围(t=2.053,P=0.042)、BMI(t=3.891,P=0.000)均高于AA基因型者.结论 FTO基因rs9930506多态性和新疆哈萨克族学龄儿童超重、肥胖相关,与空腹血糖水平、臀围、BMI差异具有相关性.     

5-羟色胺受体1B基因多态性及其与振动性白指关联分析

目的 检测手传振动作业工人5-羟色胺受体1B基因(HTR1B)多态性位点,分析HTR1B基因多态性与振动性白指(VWF)的关联性.方法 对HTR1B再测序筛查多态性位点,其与VWF的关联性采用Logistic回归分析,采用Haploview软件进行其遗传特征和连锁不平衡(LD)分析.结果 筛查到7个已知单核苷酸多态性(SNP)位点,各位点基因型频率均符合Hardy-Weinberg平衡(P＞0.05).rs17273700、rs11568817与rs130058之间、rs6296与rs6298之间均呈强LD,rs17273700与rs11568817为完全LD.校正年龄、工龄、吸烟和饮酒等混杂因素前,rs17273700突变杂合型AG(P=0.034)、rs11568817位点突变杂合型AC(P =0.034)、rs6298位点突变杂合型AG(P=0.030)与突变纯合型GG(P=0.023)和rs6296位点突变杂合型GC(P =0.022)与突变纯合型CC(P =0.012)等突变基因型相对其各自的野生纯合型,均呈现可能增加VWF易感性的趋势(P＜0.05);校正混杂因素后,上述突变基因型与VWF易感性之间的关联无统计学意义(P＞0.05).结论 首次完整测序汉族手传振动作业人群HTR1B基因多态性位点并初步分析了其人群遗传特征,HTR1B对VWF易感性的影响值得进一步研究.     

超重肥胖儿童的脂代谢异常与INSIG2基因的关联研究

目的 研究儿童超重肥胖和脂代谢与胰岛素诱导基因2(INSIG2)变异的相关性.方法 选择北京市2030名7～18岁的儿童进行身体测量及血脂、INSIG2基因rs13428113多态性检测.结果 研究对象rs13428113多态性的等位基因突变率(T>C)为49.3%.比较体重正常、超重和肥胖组基因型及等位基因频率,发现三组差异无统计学意义(P>0.05).在超重组中CC基因型携带者的体重指数、腰臀比、肱三头肌和髂前上棘皮褶厚度高于TT/TC基因型携带者;在肥胖组中CC携带者总胆固醇水平高于TT/TC携带者(P<0.05).结论 INSIG2基因rs13428113多态性与超重肥胖儿童的脂代谢异常有关,可能加重肥胖、血脂异常程度.     

C反应蛋白rs3093059位点与缺血性脑卒中的相关性研究

目的 探讨C反应蛋白(CRP)单核苷酸多态性(SNP)位点中rs3093059位点与缺血性脑卒中的相关性.方法 采用聚合酶链反应-限制性酶切片段长度多态性分析(PCR-RFLP)技术检测128例缺血性脑卒中患者(病例组)CRPSNP位点中rs3093059位点的基因型,并与随机抽取的同期无动脉粥样硬化血管病史的人群112例(对照组)进行比较.应用多因素非条件Logistic回归模型分析缺血性脑卒中的危险因素.结果 两组rs3093059位点基因型及等位基因频率分布均符合Hardy-Weinberg平衡检验(P＞0.05),表明选择的样本来自同一人群.两组rs3093059位点基因型(病例组基因型GG 90例,GC18例,CC 20例;对照组基因型GG 94例,GC 3例,CC15例)、等位基因频率(病例组G等位基因198例,C等位基因58例;对照组C等位基因191例,C等位基因33例)及显性模型分布(病例组显性模型GG+ GC 108例,CC 20例;对照组显性模型GG+GC 97例,CC 15例)比较差异无统计学意义(P＞0.05),但两组rs3093059位点隐性模型分布(病例组隐性模型CC +GC38例,GG90例;对照组隐性模型CC+ GC 18例,GG 94例)比较差异有统计学意义(P＜0.05).多因素非条件Logistic回归模型分析结果表明,男性、高血压病史、糖尿病病史、吸烟史及rs3093059位点隐性模型是缺血性脑卒中发生的独立危险因素(P＜0.05).结论 CRP SNP位点中rs3093059位点隐性模型是发生缺血性脑卒中的独立危险因素.     

STAT3基因多态性与子宫内膜异位症合并不孕GnRH-a治疗效果的关系

目的探讨信号转导和转录活化因子3(STAT3)基因多态性与子宫内膜异位症(EMs)合并不孕性腺激素释放激素激动剂(GnRH-a)治疗效果的关系。方法选择经腹腔镜手术病理证实的EMs合并不孕患者60例,进行STAT3基因多态性检测,确定STAT3基因分型,比较不同基因类型治疗后妊娠成功率、复发率及治疗前后痛经评分、CA125水平。结果 1EMs合并不孕患者rs2293152为STAT3基因多态性位点,3种基因型分布分别为:CC纯合型18例(30.00%),CG杂合型24例(40.00%),GG纯合型18例(30.00%);2CC纯合型、CG杂合型、GG纯合型患者治疗12个月内妊娠成功率分别为72.22%、50.00%、33.33%,复发率分别为0、8.33%、11.11%,差异有统计学意义(χ~2妊娠=26.852,P妊娠<0.05;χ~2复发=5.632,P复发<0.05);3治疗6个月、12个月痛经评分、CA125水平顺位:CC纯合型相似文献   

甘露糖结合凝集素基因与中国北方汉族人群2型糖尿病的关系

目的 探讨甘露糖结合凝集素(MBL)基因与中国北方汉族人群2型糖尿病(T2DM)的关系。方法收集318例北方汉族T2DM患者和448名血糖正常健康对照,应用多重SNaPshot技术检测MBL2基因rs 1800450、rs1800451和rs11003125位点多态性。Logistic回归分析该基因变异和其他危险因素对T2DM的作用。Haploview软件对3个位点进行连锁不平衡分析和单倍型分析。结果rs1800451位点检测到的基因型均为CC,在病例和对照中均不存在变异,rs1800450和rs11003125位点多态性的分布符合Hardy-Weinberg平衡。Rs 1800450多态位点基因型频率和等位基因频率在病例组和对照组中分布的差异均有统计学意义(P=0.006和P=0.003),rs11003125多态位点基因型频率和等位基因频率的差异也均有统计学意义(P=0.010和P=0.004)。多元logistic回归模型分析显示超重、中心性肥胖、高胆固醇血症是T2DM的危险因素。携带rs1800450位点GG基因型以及rs11003125位点(GC+CC)基因型患T2DM危险显著增高。单倍型分析结果显示rs1800450和rs11003125单倍型构成为GC患糖尿病的风险明显增高(OR=2.21,95％ CI:1.47～3.33,P=0.000)。结论 MBL2基因第1外显子rs 1800450多态、启动子rs11003125多态与T2DM可能相关。携带rs1800450位点G等位基因以及rs11003125位点C等位基因可能是汉族人群发生T2DM的危险因素。     

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 occurrence of antimicrobial substances in toilet,sink and shower drainpipes of clinical units: A neglected source of antibiotic residues

Antibiotics represent one of the most important drug groups used in the management of bacterial infections in humans and animals. Due to the increasing problem of antibiotic resistance, assurance of the antibacterial effectiveness of these substances has moved into the focus of public health. The reduction in antibiotic residues in wastewater and the environment may play a decisive role in the development of increasing rates of antibiotic resistance. The present study examines the wastewater of 31 patient rooms of various German clinics for possible residues of antibiotics, as well as the wastewater of five private households as a reference.To the best of our knowledge, this study shows for the first time that in hospitals with high antibiotic consumption rates, residues of these drugs can be regularly detected in toilets, sink siphons and shower drains at concentrations ranging from 0.02?μg·L^?1 to a maximum of 79?mg·L^?1. After complete flushing of the wastewater siphons, antibiotics are no longer detectable, but after temporal stagnation, the concentration of the active substances in the water phases of respective siphons increases again, suggesting that antibiotics persist through the washing process in biofilms. This study demonstrates that clinical wastewater systems offer further possibilities for the optimization of antibiotic resistance surveillance.     

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.     

Occupational health hazards in mining: an overview

This review article outlines the physical, chemical, biological, ergonomic and psychosocial occupational health hazards of mining and associated metallurgical processes. Mining remains an important industrial sector in many parts of the world and although substantial progress has been made in the control of occupational health hazards, there remains room for further risk reduction. This applies particularly to traumatic injury hazards, ergonomic hazards and noise. Vigilance is also required to ensure exposures to coal dust and crystalline silica remain effectively controlled.     

Manufacture and use of nanomaterials: current status in the UK and global trends

This paper provides an overview of the production and use of nanomaterials (NMs), particularly in the UK. Currently, relatively few companies in the UK are identifiable as NM manufacturers, the main emphasis being the bulk markets in metals and metal oxides, and some niche markets such as carbon nanotubes and quantum dots. NM manufacturing in the UK does not reflect the global emphasis on fullerenes, nanotubes and fibres. Some assumptions have been made about the types of NM that are likely to be imported into the UK, which currently include fullerenes, modified fullerenes and other carbon-based NMs including nanotubes. Many university departments, spin-offs and private companies have developed processes for the manufacture of NMs but may only be producing small quantities for research and development (R&D) purposes. However, some have the potential to scale up to produce large quantities. The nanotechnology industry in the UK has strong R&D backup from universities and related institutions. This review has covered R&D trends at such institutions, and appropriate information has been added to a searchable database. While several companies are including NMs in their products, only a few (e.g. manufacturers of paints, coatings, cosmetics, catalysts, polymer composites) are using nanoparticles (NPs) in any significant quantities. However, this situation is likely to change rapidly. There is a need to collect more information about exposure to NPs in both manufacturing and user scenarios. As the market grows, and as manufacturers switch from the micro- to the nanoscale, the potential for exposure will increase. More research is required to quantify any risks to workers and consumers.     

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.     

Investigating clusters in the workplace and beyond

Clusters of disease are common and occur in the workplace and in the general community. They often arouse considerable concern among the population. Investigations have sometimes lead to exciting new knowledge, but in general the investigation of clusters is difficult and often unrewarding, especially for community clusters. In the workplace, investigations are more likely to find associations and even new causes, but still many clusters remain enigmatic. Despite this, there are many reasons for investigating clusters, including allaying community concern and identifying uncontrolled exposures. A structure for investigating clusters in the workplace is suggested.