NOTCH4基因多态性与儿童孤独症的相关性

【目的】探讨NOTCH4基因的两个单核苷酸多态性(single nucleotide polymorphisms,SNPs)位点rs367398和rs520688与儿童孤独症之间的相关性。【方法】采用聚合酶链式反应(polymerase chain reaction,PCR)-限制性片段长度多态性(restriction fragment length polymorphism,RFLP)方法对中国北方地区孤独症患儿及对照组进行rs367398和rs520688的基因型鉴定。【结果】两个位点的等位基因与基因型频率在对照组与患者组间差异均无显著性(P>0.05),并且两个位点均与孤独症病情程度无关联(P>0.05)。【结论】NOTCH4基因多态性与儿童孤独症无关联,孤独症的病因基因有待于进一步研究。     

NLGN4X基因3'UTR区多态性与孤独症关系的家系研究

【目的】 探讨NLGN4X基因与中国汉族儿童孤独症是否存在相关性,查寻中国汉族儿童孤独症的易感基因。 【方法】 选取NLGN4X基因3'UTR区两个多态性位点rs5916269和rs3810686作为遗传标记,采用直接测序法对92个孤独症核心家系的276名成员进行基因型测定,并进行传递不平衡检验(TDT)和单倍型相对危险度(HRR)分析。 【结果】 TDT检验及HRR分析均显示儿童孤独症与rs5916269遗传标记位点不存在传递不平衡(TDT χ²=0.385,P=0.620;HRR χ²=0.345,P=0.557);与rs3810686遗传标记位点存在传递不平衡(TDT χ²=6.368,P=0.015;HRR χ²=5.470,P=0.019)。 【结论】 NLGN4X基因rs5916269位点与中国汉族儿童孤独症无关;rs3810686位点与中国汉族儿童孤独症相关,NLGN4X基因可能是孤独症的易感基因。     

NOTCH4基因位点多态性与儿童孤独症的关系

目的:探讨NOTCH4基因的单核苷酸多态性(SNPs)位点rs367398与儿童孤独症之间的相关性。方法:采用PCR-RFLP方法对北方地区24例孤独症患儿及30例对照组儿童进行rs367398的基因型鉴定。结果:该位点的等位基因与基因型频率在对照组与患者组间无统计学意义(P>0.05),并且与孤独症病情程度无关联(P>0.05)。结论:NOTCH4基因rs367398位点多态性与儿童孤独症无关联,孤独症的病因基因有待于进一步研究。     

GABRA4基因多态性与儿童孤独症的相关性研究

目的:通过对GABRA4基因上单核苷酸多态性位点rs2229940的检测,探讨GABRA4基因多态性与儿童孤独症的关系。方法:在中国汉族孤独症49个核心家系(孤独症患者49人,父母94人)及正常对照人群(158人)中,应用聚合酶链反应-限制性酶切片段多态性(PCR-RFLP)技术,测定了本位点的等位基因和基因型,进行以核心家系为基础的传递不平衡检验(TDT)及病例对照的关联研究。结果:病例对照关联研究中,rs2229940多态位点等位基因频率(χ2=4.128,P=0.040)及基因型(χ2=9.438,P=0.009)比较均发现差异有统计学意义。结论:提示GABRA4基因可能与孤独症有关联。     

白细胞介素-12基因多态性与宁夏回族儿童哮喘相关性的研究

目的探讨白细胞介素-12基因4个位点的单核苷酸多态性与宁夏回、汉族哮喘儿童与正常儿童间的相关性。方法应用PCR-RFLP技术对回、汉族哮喘患儿及回、汉族正常儿童各60例外周血样本进行分析,采用χ2检验对白细胞介素-12基因4个位点的基因型及基因频率的分布进行分析。结果白细胞介素-12基因4个位点1188(rs3212227)、rs14050306、rs15677380、rs6887695的基因与基因型频率的分布在宁夏回汉族哮喘儿童、回族哮喘及正常儿童和回汉族正常儿童之间无显著差异(P0.05)。结论白细胞介素-12基因的4个位点与宁夏回族、汉族儿童哮喘相关性无显著差异。     

雌激素受体基因多态性与儿童孤独症临床表型特征的关联研究

【目的】 探讨雌激素受体(estrogen receptor,ER)基因多态性与儿童孤独症临床表型特征的关系。 【方法】 应用TaqMan荧光探针Real-Time PCR的分析方法对127名孤独症患儿进行ERα的单核苷酸多态性片断rs11155819和ERβ的单核苷酸多态性片断rs1152582的基因型测定。用儿童孤独症评定量表(Children Autism Rating Scale,CARS)评价孤独症患儿临床表型特征。 【结果】 孤独症病情严重程度在rs11155819和rs1152582的不同基因型之间的差异无统计学意义(P>0.05)。rs11155819基因型为C/T、T/T的孤独症儿童在语言交流项得分的差异有统计学意义(P=0.048)。rs1152582基因型为C/C、G/G的孤独症儿童在非言语交流项、活动水平项得分的差异有统计学意义(P=0.035;P=0.030)。 【结论】 rs11155819基因型中,携带T/T的患儿比携带C/T的患儿有更明显的语言交流障碍。rs1152582基因型中,携带C/C的患儿比携带G/G的患儿有更明显的非言语交流障碍和活动异常。     

新疆维、汉两民族非综合征性唇腭裂IRF6基因多态性分析

目的:探讨非综合征性唇腭裂(NSCL/P)干扰素调节因子6(IRF6)rs2013162位点单核苷酸多态性(SNP)在新疆维、汉两民族内和民族间基因型和等位基因型的频率差异。方法:抽取100例NSCL/P患者作为NSCL/P组(维吾尔族50例、汉族50例),对照组100例(维吾尔族50例、汉族50例),运用聚合酶链式反应-限制性片段长度多态性(PCR-RELF)技术来分析IRF6基因的多态性,病例-对照研究分析两组基因型和等位基因型频率及两民族内和民族间频率的差异。结果:rs2013162位点GG基因型和等位基因G和T频率在NSCL/P组和对照组中分布差异有统计学意义(P<0.05),维、汉两民族内rs2013162位点维吾尔族中GG和TT基因型及等位基因G和T分布差异有统计学意义(P<0.05),维、汉两民族间rs2013162位点NSCL/P组中维吾尔族GG和TT基因型和等位基因G的频率均高于汉族,两民族间基因型和等位基因型分布差异均无统计学意义(P>0.05)。结论:新疆维、汉族NSCL/P与rs2013162位点GG基因型及等位基因G存在相关性。     

汉族儿童多巴胺能系统基因多态性与孤独症的相关性

探讨中国汉族小学生及幼儿人群中多巴胺能系统相关基因DRD1、DRD2、DRD3、DDC和DBH上的单核苷酸多态性(SNPs)与孤独症(ASD)及病情严重程度的关系.方法 共纳入在浙江萧山医院精神卫生中心、杭州萧山第一人民医院儿童潜能开发中心和杭州市萧山区康复中心就诊及接受训练的148例孤独症儿童(ASD组)和杭州市萧山区某幼儿园和某小学的200名健康儿童(对照组).采用Sequenom Mass ARRAY平台对SNP DRD1 rs251937、DRD2rs4630328、DRD3 rs167771、DDC rs6592961和DBH rs1611115进行基因型测定.结果 ASD组与对照组的所测SNP等位基因和基因型频率差异均无统计学意义(P值均>0.05).Logistic回归分析显示,SNPs在不同遗传模型下与ASD风险相关性无统计学意义(P值均>0.05).根据ASD量表的评分,96例为轻中度孤独症、52例为重度孤独症.Logistic回归分析显示所测的5个SNPs与儿童ASD的严重程度关联无统计学意义(P值均>0.05).结论 中国汉族小学生及幼儿的多巴胺能系统相关基因上SNPs与孤独症及其病情严重程度无相关关系.     

IMMP2L和DOCK4基因多态性与中国汉族儿童孤独症的关联研究

目的 探讨IMMP2L和DOCK4基因多态性与中国汉族儿童孤独症的关联性。方法 收集375个中国汉族人群的孤独症核心家系, 所有家系均采集外周血提取基因组DNA, 采用SNaPshot基因分型的方法, 检测IMMP2L基因rs12537269、rs1528039及DOCK4基因rs2217262位点的等位基因和基因型分布, 通过传递不平衡检验(Transmission/disequilibrium test, TDT)分析所研究位点多态性与孤独症的关系。结果 TDT结果显示, rs12537269和rs1528039位点在杂合子父母的2个不同等位基因之间无优势传递(P>0.05), 而rs2217262位点杂合子父母过多的传递A给患儿(χ²=5.343, P=0.021), 发生传递不平衡。结论 DOCK4基因与中国汉族儿童孤独症存在关联性。     

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。     

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.     

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.     

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.     

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.     

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.