Ace基因多态性与维医异常黑胆质相关性

目的分析血管紧张素转换酶Ace基因多态性与异常黑胆质的关联。方法按照《维吾尔医诊断学》标准诊断喀什地区维吾尔族居民异常黑胆质组515例,诊断正常体液类型308例作为正常体液组,采用高分辨率溶解曲线-聚合酶链反应(HRM-PCR)方法对Ace基因进行基因分型,分析Ace基因8个位点多态性,比较两组基因型和等位基因的分布频率。结果异常黑胆质组和正常体液组Ace基因rs4293位点主要基因型为AG,主要等位基因是A;rs4344位点主要基因型为AG,主要等位基因为A;rs4303位点主要基因型为GG,少数等位基因是T;rs4461142位点主要基因型为CT,主要等位基因是C;rs8075924位点主要基因型为CC,少数等位基因是T;rs4316818位点主要基因型为CT,主要等位基因为T;rs12451328主要基因型为CC,少数等位基因为A;rs4353主要基因型为AG,主要等位基因分别是G、A。异常黑胆质人群Ace基因rs4353位点GG基因型频率(χ2=9.14,P=0.01)及等位基因G频率(χ2=8.16,P=0.01),rs8075924位点等位基因C基因频率(χ2=6.11,P=0.04)均高于正常体液人群,异常黑蛋质组高于正常体液组,差异有统计学意义。两组单倍型比较,rs4461142和rs4353位点A C单倍型分布频率异常黑胆质人群明显高于正常体液人群(χ2=10.33,P=0.001)。结论 Ace基因rs4353位点多态性,rs4461142和rs4353位点A G单倍与异常黑胆质有关联。     

血管内皮生长因子基因936C/T位点多态性与急性心肌梗死的关系

目的研究血管内皮生长因子(VEGF)936C/T多态性与急性心肌梗死(AMI)的关系。方法纳入2016年7月至2018年12月在本院住院且首次诊断为AMI的120例患者作为AMI组及同期进行健康体检的150例志愿者作为对照组。提取外周血基因组DNA,通过PCR反应、酶切反应以及琼脂糖凝胶电泳检测VEGF基因936C/T位点多态性。结果 AMI组VEGF基因936C/T位点的基因型频率(CC:34.17%,CT+TT:65.83%)与对照组的基因型频率(CC:54.67%,CT+TT:45.33%)差异有统计学意义(P=0.001);AMI组VEGF基因936C/T位点等位基因频率(C:59.58%;T:40.42%)与对照组等位基因频率(C:73.67%;T:26.33%)差异有统计学意义(P=0.001):AMI组患者VEGF基因936C/T位点CT+TT基因型比例、等位基因T频率明显高于对照组(P<0.05)。AMI组中VEGF基因936C/T位点CT+TT基因型患者的血清CK-MB峰值、cTnI峰值明显高于CC基因型患者,血清VEGF水平明显低于CC基因型患者(P<0.05)。Logistic回归分析显示,年龄、吸烟、高血压、糖尿病、高脂血症、VEGF基因CT+TT基因型是AMI发生的危险因素。结论 VEGF基因936C/T多态性与AMI的发生有关,其中等位基因T可能是AMI发生的易感等位基因。     

亮氨酸氨基肽酶基因多态性与原发性高血压相关性研究

目的探讨脂细胞衍生亮氨酸氨基肽酶(A-LAP)基因的多态性与原发性高血压的相关性。方法采用关联分析,严格按照标准对湖南地区汉族随机选取,其中原发性高血压患者135例,正常对照135例。应用聚合酶链式反应-限制性片段长度多态性分析(PCR-RFLP)对两组对象的A-LAP的828A>G多态性进行分析。结果AA,GG,AG三种基因型分布频率在正常对照组分别为61.5%、1.5%、37.0%,在高血压病组中分别为48.1%、5.9%、45.9%,两组间基因型频率比较χ2=7.075,df=2,P=0.029,差异有显著性;A和G等位基因分布频率在正常对照组中分别为80.0%、20.0%,在高血压病组中分别71.1%、28.9%,A和G等位基因频率比较χ2=5.775,df=1,P=0.016,差异有显著性。结论多基因联合分析显示,高血压病组A-LAP等位基因G的频率高于等位基因A,828A>G对发生原发性高血压的发生相对危险有协同作用。     

不良妊娠结局患者和正常人群亚甲基四氢叶酸还原酶基因多态性的比较

目的研究台州地区不良妊娠结局育龄妇女与正常人群育龄妇女亚甲基四氢叶酸还原酶(methylenetrahydrofolate reductase,MTHFR)基因C677T和A1298C基因型的分布情况,探讨MTHFR C677T和A1298C基因位点多态性与不良妊娠结局的相关性。方法应用实时荧光定量PCR仪检测MTHFR C677T和A1298C位点基因多态性,并进行基因分型。结果观察组和对照组MTHFR C677T位点TT基因型频率为23.39%和12.68%,差异有统计学意义(χ2=6.595,P0.05)。T等位基因频率在观察组和对照组分别为43.15%和31.69%,差异有统计学意义(χ2=7.450,P0.01)。MTHFR A1298C位点CC基因型在观察组和对照组差异无统计学意义(χ2=1.639,P0.05)。C等位基因在观察组和对照组相比差异无统计学意义(χ2=1.334,P0.05)。结论 MTHFR C677T位点的多态性和不良妊娠结局密切相关。台州地区育龄妇女人群MTHFR基因的分布特点与群体遗传学特征具有地域特异性。     

转化生长因子TGF-β1-509(C/T)基因多态性与不明原因复发性自然流产的易感性研究

目的探讨转化生长因子TGF-β1-509(C/T)基因多态性与不明原因复发性自然流产的关系。方法运用PCR-RFLP技术检测59例不明原因复发性自然流产患者(URSA组)及252例正常孕妇(对照组)TGF-β1-509(C/T)基因多态性。结果 URSA组TGF-β1-509 CC,CT,TT三种基因型频率(%)分别为16.95、67.80、15.25;对照组分别为14.29、46.42、39.29。URSA组转化生长因子TGF-β1-509C、T基因频率(%)分别为50.85、49.15;对照组分别为32.81、67.19。URSA组CT基因型频率明显高于对照组(2=8.732,P=0.003);而TT基因型频率则明显低于对照组(2=12.18,P<0.001)。URSA组C等位基因明显高于对照组,T等位基因明显低于对照组(2=13.846,P<0.001)。结论转化生长因子TGF-β1-509(C/T)基因多态性与URSA的遗传易感性有关,CT基因型可能为URSA的易感因素之一,TT基因型可能为URSA的保护因素之一。     

细胞间黏附分子-1基因C469T多态性与复发性流产的关系

目的探讨人细胞间黏附分子-1(ICAM-1)第6外显子C469T基因多态性与复发性流产的关系。方法选取90例复发性流产患者和100例正常分娩者进行研究,采用聚合酶链反应-限制性片段长度多态性(PCR-RFLP)法分析ICAM-1基因C469T多态性。结果复发性流产组CT、TT基因型分布频率分别为32.22%、64.44%,与对照组CT、TT基因型分布频率(70.00%、27.00%)比较,差异有统计学意义(χ2=28.546,P=0.000);复发性流产组T等位基因频率为80.56%,与对照组T等位基因频率62.00%比较,差异亦有统计学意义(χ2=15.775,P=0.000);等位基因频率的相对风险分析发现,T等位基因携带者其自然流产的风险是C等位基因携带者的2.539倍(OR=2.539,95%CI:1.592~4.049)。结论ICAM-1基因C469T多态性与自然流产密切相关,T等位基因可能是自然流产发病的遗传易感基因之一。     

MTHFR基因多态性与先兆流产和复发性流产的关系

目的探讨5,10-亚甲基四氢叶酸还原酶(MTHFR)基因C677T和A1298C位点多态性与先兆流产和复发性流产的关系。方法选取2016年7月-2017年7月在台州市中心医院就诊的135例先兆流产患者和108例复发性流产患者分别为先兆流产组和复发性流产组,选取于同院接受健康查体的140例育龄期健康女性为对照组。采用荧光定量PCR技术检测3组MTHFR基因C677T和A1298C位点的多态性。结果先兆流产组与对照组MTHFR基因C677T位点CC、CT、TT基因型频率比较差异无统计学意义(P0. 05); TT基因型频率在复发性流产组中显著升高,而CC基因型频率在复发性流产组中显著降低(P0. 05)。复发性流产组MTHFR基因C677T位点T等位基因频率显著高于对照组(P0. 05),相对于纯合未突变等位基因C的相对危险度OR=1. 816,95%CI为1. 258～2. 622;先兆流产组与对照组T等位基因频率比较差异无统计学意义(P0. 05)。与对照组比较,先兆流产组、复发性流产组MTHFR基因A1298C位点AA、AC、CC基因型频率比较差异均无统计学意义(均P0. 05);先兆流产组及复发性流产组C等位基因频率与对照组相比差异均无统计学意义(均P 0. 05)。结论 MTHFR基因C677T位点C/T变异可能是台州地区复发性流产的因素之一,MTHFR基因A1298C位点多态性与先兆流产和复发性流产的发生无明显相关性。     

转化生长因子TGF-β1+869T/C基因多态性与子痫前期的相关性研究

目的探讨转化生长因子TGF-β1+869T/C基因多态性与子痫前期的相关性。方法采用聚合酶链式反应-限制性片段长度多态性(Polymerase Chain Reaction with Restrition Fragment Length Polymophism,PCR-RFLP)技术检测156例子痫前期患者(子痫前期组)和252例正常妊娠健康孕妇(对照组)外周血的TGF-β1+869T/C基因多态性,并对结果进行统计分析。结果 TGF-β1基因+869T/C位点存在CC、CT、TT三种基因型,子痫前期组CC基因型占33.33%,CT基因型占62.18%,TT基因型占4.49%;对照组CC基因型占13.10%,CT基因型占48.41%,TT基因型占38.49%。子痫前期组孕妇CC和CT基因型频率均明显高于对照组(p<0.01,p<0.01);而TT基因型频率则明显低于对照组(p<0.01)。子痫前期组+869T/C位点C等位基因频率(64.42%)明显高于对照组(37.30%),T等位基因频率(35.58%)明显低于对照组(62.7%)。结论 TGF-β1+869T/C基因多态性与子痫前期显著相关。     

TLR9基因多态性与子宫腺肌病的相关性研究

目的探讨Toll样受体(Toll-like receptors/TLRs)9基因多态性与子宫腺肌病发病风险的关系。方法采用DNA直接测序法检测50例子宫腺肌病患者(病例组)和50例对照组的TLR9基因rs352139和rs352140位点的多态性,比较各基因型和等位基因的分布情况。结果病例组和对照组中,TLR9基因rs352139位点的TT、CT、CC3种基因型频率分别为38%,40%,22%和48%,32%,20%,两组比较差异无统计学意义(χ2=1.073,P=0.585);T、C等位基因频率分别58%,42%和64%,36%,两组比较差异无统计学意义(χ2=0.757,P=0.384);TLR9基因rs352140位点的TT、CT、CC3种基因型频率分别为20%,40%,40%和18%,38%,44%,两组比较差异无统计学意义(χ2=0.174,P=0.917);T、C等位基因频率分别为40%,60%和37%,63%,两组比较差异无统计学意义(χ2=0.190,P=0.663)。结论 TLR9基因rs352139和rs352140位点多态性与子宫腺肌病的发病风险无关。     

汉族及哈萨克族IL-6基因-174G/C多态性及CRP基因+1059G/C多态性与代谢综合征的相关性研究

[目的]探讨新疆哈萨克族及汉族IL-6基因-174G/C及哈萨克族CRP基因+1059G/C多态性与代谢综合征(MS)的相关性。[方法]应用PCR-RFLP方法分别对新疆哈萨克族及汉族200例MS组及201例对照组IL-6基因-174G/C位点及哈萨克族200例MS组及201例对照组CRP基因+1059G/C位点进行检测。[结果]①IL-6-174G/C位点:哈萨克族两组中GG型频率分别为94.00%和98.50%,GC型分别为6.00%和1.50%,在MS组中CC型有1例被检出,两组基因型对比差异有统计学意义(χ2=5.66,P﹤0.05),G和C等位基因频率分别为97.00%和3.00%,对照组分别为99.30%和0.70%;两组等位基因频率差异有统计学意义(χ2=5.55,P﹤0.05),以G等位基因为参照,C等位基因的OR值为4.12(OR95%CI:1.38～12.29);汉族两组中GG型频率分别为93.43%和97.51%,GC型分别为6.57%和2.49%,CC型在两组中未检出,两组基因型差异有统计学意义(χ2=4.52,P﹤0.05),MS组中G和C等位基因频率分别为96.71%和3.29%,对照组中分别为98.76%和1.24%,G和C等位基因频率在两组间差异有统计学意义(χ2=4.42,P﹤0.05),以G等位基因为参照,C等位基因的OR为2.88(OR95%CI:1.08～7.70);两民族MS组及对照组IL-6-174位点基因型及等位基因频率的差异均无统计学意义(P﹥0.05);②CRP+1059G/C位点:MS组与对照组GG基因型频率分别为93.00%和99.00%,GC基因型频率分别为7.00%和1.00%,CC基因型未检出,G和C等位基因频率在MS组分别为96.50%和3.50%,两组基因型差异有统计学意义(χ2=9.43,P﹤0.01),等位基因频率差异有统计学意义(χ2=9.24,P﹤0.01),以G等位基因为参照,C等位基因的OR值为7.25(2.04～25.76)。[结论]哈萨克族和汉族IL-6-174G/C及哈萨克族CRP+1059G/C基因多态性与MS有一定关联。     

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.     

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.     

Assessing occupational and environmental exposure

Exposure assessment is a poorly understood component of the science of epidemiology. The relationship between exposure to chemicals and ill-health outcomes is often calculated using crude exposure measures such as ever/never exposed or duration. When investigating subtle effects, exposures need to be characterized much more fully in terms of intensity, frequency, duration and route. While occupational exposures tend to be much greater than those experienced from the wider environment there is a need to remember that, for many chemicals, exposure can occur occupationally, environmentally and through consumer use of products containing the material of interest. Inhalation exposure has generally been the traditional focus for most epidemiological investigations but there is now growing awareness of the importance of the dermal and ingested routes of contact and internalization. Quantification of the exposure also needs to be related to a biological mechanism of action and exposure metrics need to be selected accordingly. Occupational exposures can generally be measured using simple well-validated techniques. Environmental exposures require much more sensitive instruments and are more difficult to assess. Exposure modelling, particularly for the environmental fate of chemicals has undergone many recent developments and Monte Carlo techniques can be used to characterize model uncertainty and variability. This approach to exposure assessment can now be used in the setting of the wider environment and will enable a far better understanding of the relationship between exposure and disease.     

Mercury toxicity due to the smelting of placer gold recovered by mercury amalgam

A 19-year-old man developed tremor in both hands and fatigue after starting work at a placer gold mine where he was exposed to mercury-gold amalgam. Examination revealed an intention tremor, dysdiadochokinesis and mild rigidity. The 24-h urinary mercury concentration reached a peak of 715 nmol/l (143 ug/l) shortly before the clinical examination, after which he was removed from working in the gold room [Mercury No. Adverse Effect Level: 250 nmol/l (50 ug/l)]. On review 7 weeks later his tremor had almost resolved and the dysdiadochokinesis and rigidity had gone. The 24-h urinary mercury concentration had fallen to 160 nmol/l (32 ug/l). The principal exposure to mercury was considered to be the smelting of retorted gold with previously unrecognized residual mercury in it. The peak air concentration of mercury vapour during gold smelting was 0.533 mg/m3 (Mercury Vapour ACGIH TLV: 0.05 mg/m3 TWA). Several engineering and procedural controls were instituted. This episode occurred at another mine site, unrelated to Mount Isa Mines Limited.     

How Adults with Acquired Brain Damage Perceive Computer Training as a Rehabilitation Tool: A Focus-group Study

The aim of this study was to explore and describe how adult outpatients with acquired brain damage and referred to occupational therapy perceive computer training with the RehaCom programs, in order to evaluate the method of treatment as a tool in the rehabilitation of persons with cognitive disorders. By using focus-group discussions as a qualitative method of research when analysing the result, five themes with corresponding categories emerged, describing a development of understanding and learning about capacities. Themes describing how the participants could apply strategies to overcome shortcomings in daily occupations and the therapeutic role of the occupational therapist were identified as well. The result shows that a computer training program such as RehaCom can be used as an educational tool, for example, to guide a person who is trying to adopt compensatory strategies to avoid overload by taking pauses. It was found that anything the participants learned was also applicable to occupational performance in daily life.