清远地区10年间胎儿、新生儿地中海贫血筛查诊断研究

目的：通过对本院10年间妊娠夫妇及胎儿、新生儿地中海贫血防治的各项资料分析，了解本市地贫的发生频率，探讨夫妇筛查→产前基因诊断→新生儿筛查→遗传咨询方案对地贫防治和优生的效果。方法：对我院1994-2004年4793例妊妇，3887例丈夫及2639例胎婴儿常规筛查；高风险的孕妇进行产前基因诊断；重型地贫者劝其引产终止妊娠；脐血筛查阳性患儿书面通知家属。结果：本市妊娠夫妇及新生儿地贫发生率为8．09％，其中α-、β-地贫携带者分别为68．01％与26．86％，重型α-地贫为5．13％；夫妇双方为α-、β-或双重杂合子的高风险发生频率为3．52％；119例高风险者产前基因诊断，发现37例重型胎儿予以终止妊娠。结论：本市为地贫高发区，通过实施筛查妊娠夫妇→产前诊断→新生儿的系统防治方案，不但降低了重型患儿的出生率，并使地贫携带者也获得了必要的咨询和指导。     

广东省惠州地区363例地中海贫血产前基因诊断及随访情况分析

目的:分析惠州地区地中海贫血(简称地贫)基因携带夫妇胎儿基因诊断及随访情况,为遗传咨询提供依据。方法:2015年1月—2016年12月在本院确诊携带同型地贫基因夫妇363对,通过胎儿绒毛、羊水、脐血获取胎儿标本提取DNA,应用Gap-PCR和PCR结合反向斑点杂交技术进行α、β地贫基因诊断。产前诊断后1年随访妊娠结局。结果:236对携带α-地贫基因夫妇产前基因诊断为正常47例(19.9%)、杂合子60例(47.2%)、中重型α-地贫基因53例(35.7%)。56对β-地贫基因携带夫妇产前基因诊断为正常10例(17.9%)、杂合子32例(57.1%)、中重型地贫受累胎儿14例(25.0%)。71对一方为α、β地贫基因双重杂合子,另一方为携带α、β地贫基因或α、β双重杂合子的夫妇产前基因诊断为正常36例(50.7%)、α或β地贫杂合子15例(21.1%)、巴氏水肿胎4例(0.06%)、α、β地贫双重杂合子13例(18.3%)、β-地贫复合杂合子3例(0.04%)。57例中重型α-地贫胎儿均在孕期引产,14例中重型β-地贫胎儿在孕期引产13例,1例重型β-地贫儿出生。结论:地贫产前筛查及诊断可有效避免重症地贫患儿出生;但应同时加强对重型地贫胎儿夫妇的随访宣教工作,强化心理干预措施,有效控制重症地贫儿出生,将地贫防控落到实处。     

MCV下降孕妇地中海贫血基因检测结果分析

目的:了解平均红细胞体积(MCV)下降孕妇的地中海贫血基因携带情况,指导双方均携带同类型地贫基因的夫妇进行产前诊断,降低中间型和重型地贫胎儿出生率。方法:选择73对孕妇MCV<79 fl的夫妇一起进行国内常见3种缺失型α地贫基因、5种非缺失型α地贫基因和17种β地贫基因分析。结果:55例孕妇携带地贫基因,包括2例HbH病、27例α地贫1、10例α地贫2、15例β地贫杂合子(含1例血红蛋白E、1例β地贫杂合子复合α地贫1);18例丈夫携带地贫基因,包括6例α地贫1、7例α地贫2、5例β地贫杂合子(含1例血红蛋白E);10对夫妇双方均携带地贫基因,其中7对携带同类型地贫基因,2对均为α地贫2可不进行产前诊断,其余5对需进行产前诊断。结论:MCV下降孕妇地贫基因携带率极高,双方均携带同类型地贫基因的夫妇应进行产前诊断,从而降低中间型和重型地贫胎儿出生率。     

产前地中海贫血基因诊断257例分析

目的:通过分析地中海贫血(简称地贫)产前基因诊断及随访结果,探讨预防重型地贫的有效手段及意义。方法:对夫妇为同型地贫携带者的孕妇257例进行地中海贫血产前基因诊断,并进行产后追踪随防。结果:257例共检出重型地贫胎儿24例(Bart's水肿10例、重型β-地贫14例),HbH病20例,中度β-地贫2例,α-地贫基因携带者109例,β-地贫基因携带者30例,αβ复合型地贫12例(其中1例为重型),正常胎儿60例。产后随访均与产前诊断结果相符。结论:通过开展地贫的免费产前筛查及产前诊断,联合B超排畸检查,做好随访及进一步的跟踪指导,可最大程度避免重型地贫患儿的出生。     

地中海贫血基因诊断对孕前优生的影响研究

目的通过对来宾市兴宾区参加孕前优生健康检查新婚夫妇进行地中海贫血基因诊断,提供有效的地中海贫血防控方案,以减少地中海贫血儿出生,降低岀生缺陷发生率。方法选择2017年参加来宾市兴宾区免费孕前优生健康检查的新婚夫妇6 498例当地育龄人群采用血细胞五分类和血红蛋白电泳分析指标筛查出地中海贫血高危人群,采用跨越断裂点的聚合酶链式反应(Gap-PCR)技术和PCR结合反向点杂交(PCR-RDB)技术诊断并分析α、β地贫阳性病例的基因突变类型和频率。对携带同型地中海贫血基因的待孕夫妇进行优生咨询指导,重点跟踪随访。结果地贫初筛阳性1 432例,初筛阳性率为22. 04%(1 432/6 498),基因诊断确定为地贫基因阳性920例,阳性率为14. 16%(920/6 498)。对206对夫妇双方为同型基因高危地贫孕产妇进行产前诊断,产前诊断率为80. 47%(206/256)检出正常胎儿58例,检出率28. 16%(58/206);检出各类重型/中间型地贫胎儿60例,检出率29. 13%(60/206)。经伦理道德宣教,提供知情选择,有52例中重型地贫胎儿终止妊娠,8例中间型α地贫胎儿在非指令遗传咨询后选择继续妊娠。结论来宾市兴宾区是地贫高发区,人群携带率也较高,此研究描述了来宾市兴宾区育龄人群常见的α-和β-地贫的发生率和较为详细的基因突变谱,丰富了来宾市兴宾区地中海贫血的流行病学资料。为制订地贫的预防计划和开展优生工作提供参考。认为对携带同型地中海贫血基因的待孕夫妇进行遗传咨询,对高风险夫妇免费进行产前诊断,能有效降低重型地贫儿发生率。对预防出生缺陷有重要意义。     

16443例地中海贫血结果分析与研究

目的:预防和控制地中海贫血(简称地贫)重症患儿的出生,减少出生缺陷。方法:对16 443例育龄人群采用地中海贫血定量筛查法进行地贫筛查,筛查异常者运用单管多重PCR(mPCR)及DNA芯片反向点杂交(ASO/RBD/PCR)检测技术,分别进行α、β地中海贫血基因检测,夫妇均患α或β地贫者行产前诊断,及部分未行地贫筛查由其他原因行产前诊断时,愿意接受同时进行地贫产前诊断者。结果:16 443例受检者中筛查阳性6 393例,其中2 279例接受基因诊断,807例查出为地贫患者,235对夫妇接受地贫产前诊断,检出中、重型地贫胎儿16例(已全部终止妊娠)。结论:对孕期夫妇进行地贫筛查,积极开展产前诊断,对优生优育、干预地贫儿出生有着重要作用。     

地中海贫血筛查与产前诊断在出生缺陷预防中的作用

目的:探讨地中海贫血筛查与产前诊断在出生缺陷预防中的价值。方法:以产检的妊娠夫妇为地贫筛查对象,以MCV<82fl为地贫筛查阳性,对筛查阳性者进行地贫基因分析和产前诊断,对重型地贫的胎儿给予治疗性引产。结果:共筛查5292例,确诊轻型地贫685例,对孕妇中发现的重型地贫胎儿7例全部引产。结论:进行地中海贫血筛查与产前诊断可以避免重型地贫遗传病患儿的出生。     

孕期羊水及脐血地中海贫血的产前基因诊断

目的:对88例夫妇地中海贫血(地贫)基因携带者的胎儿进行脐血或羊水产前基因诊断。方法:在B超引导下抽取羊水或脐血应用聚合酶链反应(PCR)技术行地贫基因诊断。结果:88例中α-地贫纯合子(巴氏水肿胎)7例,基因诊断分析均为--SEA/--SEA,血红蛋白(Hb)H病2例,基因诊断分析为--SEA/α3.7,--SEA/α4.2。杂合子28例,其中5例为点突变,23例为缺失型,正常胎儿23例。β-地贫高风险中,查得双重杂合子(重型β-地贫)4例,基因诊断为71-72并CAP双重杂合突变,41-42并17双重杂合突变,654并17双重杂合突变,41-42并654双重杂合突变。单一突变的杂合子21例,其中654杂合突变5例,41-42杂合突变14例,28杂合突变2例,正常3例。重型地贫胎儿11例,Hb H病2例均及时终止妊娠。结论:对夫妇地贫基因携带者行产前基因诊断是阻止重型地贫患儿出生的有效措施。     

孕中期羊水产前诊断地中海贫血2275例分析

目的:通过对孕妇羊水细胞进行地中海贫血基因检测,以期预防重型α-地中海贫血和中间型、重型β-地中海贫血患儿的出生.方法:选取2006年1月～2014年10月在该院进行产前检查并确诊或外院转诊的高风险地中海贫血妊娠孕妇2 275例,对夫妇为同型珠蛋白生成障碍性贫血的妊娠孕妇在孕15～28周取羊水细胞进行地中海贫血基因检测.结果:2 275例羊水细胞中,检出Hb Bart's症329例,β-地中海贫血纯合子或双重杂合子302例,包括Hb Bart's症合并CD41-42纯合子1例,HbH病38例,地中海贫血基因携带1 121例.所有Hb Bart's症和β-地中海贫血纯合子或双重杂合子胎儿均终止妊娠.结论:采用孕中期羊水进行产前诊断地中海贫血能有效地控制该类患儿的出生.     

MCV、MCH联合Hb电泳在地中海贫血筛查中的临床应用价值

目的探讨平均红细胞体积(MCV)、平均红细胞血红蛋白(MCH)联合血红蛋白(Hb)电泳在地中海贫血筛查中的临床应用价值,对地中海贫血初筛阳性者、夫妇为同型地中海贫携带者进行基因诊断,避免重型地中海贫血患儿出生。方法采用血常规五分类中的MCV、MCH联合血红蛋白电泳进行孕妇产前筛查。结果在3 720例被筛查人群中,筛查阳性765例,阳性率20.56%,其中:筛出α地中海贫血445例,阳性率11.96%,β地中海贫血320例,阳性率8.60%。经基因诊断确诊地中海贫血545例,占筛查总数的14.65%,其中:α地贫308例,占8.28%,β地贫杂合子185例,占4.97%,α复合β地贫52例,占1.40%。结论 MCV、MCH联合血红蛋白电泳可作为地贫初筛阳性的指标,结合基因诊断,对地中海贫的筛查和诊断有较大意义。     

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.