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Inexpensive and accurate carrier testing for cystic fibrosis (CF) will be possible in the near future. There are no existing studies on the attitudes of English persons in the community to carrier testing for CF or any other recessive disorder. We have conducted a trial study of 166 persons at two schools, two doctors' surgeries, and a family planning clinic. Only a minority had clear pre-existing knowledge of cystic fibrosis and its genetic nature. However, over 80 per cent of those questioned expressed interest in knowing their carrier status. Although it is well known that uptake can only be assessed when a service is in place, and while further studies are required to confirm that testing will be of interest to couples of reproductive age with no previous knowledge of CF, the data strongly suggest that there will be interest in communitywide testing for CF carrier status when such a test becomes available in the United Kingdom.  相似文献   

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Among 2207 women eligible to be screened for cystic fibrosis (CF) carrier status during pregnancy, 325 (15 per cent) declined to be tested. Of these, 260 (80 per cent) answered a questionnaire soliciting their reasons for not participating. The main factor was opposition to termination of pregnancy, with 43 per cent being against termination for any reason and another 11 per cent against termination of a CF fetus. Other reasons given were partner's disapproval or non-participation (10 per cent), perceived risk of a CF child being low (7 per cent), the error rate of the test (6 per cent), and the generation of unacceptable levels of anxiety (5 per cent). Eleven women (4 per cent) said that they did not wish to be tested during pregnancy, but only six of these would have accepted screening at another time.  相似文献   

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A novel mutation was detected in the Factor VIII gene of a sporadic case of severe haemophilia A. The lesion, a CGA → TGA transition, converts Arg 795 to Term and adequately accounts for the severe phenotype observed. PCR/direct sequencing was used to confirm the carrier status in the mother. Exclusion of haemophilia A in an at-risk pregnancy was then achieved by demonstration of the absence of this lesion in fetal DNA from a chorionic villus sample. The mutation was also detectable by chemical cleavage of mismatch (CCM), which both confirmed the prenatal diagnosis and established the carrier status of the proband's sister. This example therefore serves to illustrate the potential of direct gene analysis in sporadic cases of haemophilia A and/or in families uninformative for known RFLPs.  相似文献   

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Population centres in low atoll islands have water supply problems that are amongst the most critical in the world. Fresh groundwater, the major source of water in many atolls, is extremely vulnerable to natural processes and human activities. Storm surges and over-extractions cause seawater intrusion, while human settlements and agriculture can pollute shallow groundwaters. Limited land areas restrict freshwater quantities, particularly in frequent ENSO-related droughts. Demand for freshwater is increasing and availability is extremely limited. At the core of many groundwater management problems are the traditional water ownership rights inherent in land tenure and the conflict between the requirements of urbanised societies and the traditional values and rights of subsistence communities living on groundwater reserves. Resource limitations and geographic isolation restrict the potential for increasing wealth through crop exports. Water governance reforms and the provision of knowledge to communities are critical. Regional water organisations, fostering self-support, are a key to developing island-adopted and owned solutions.  相似文献   

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This paper concentrates on the internal reporting methods applied to cleaner production and environmental management accounting programmes in Argentina. Questions on how environmental costs and benefits are defined, the mechanisms adopted to measure the continuing benefits arising from certain changes in management and processes and practical issues of data collection and collation are included. Furthermore, situations in which the ideally desired information is not immediately available from existing accounting or other information systems within the companies are also discussed. The success of communication initiatives, in particular, rests on both the environmental accounting messages and the ability of the users to understand the information. From this perspective, the worksheets included are considered to be an important tool to following the programmes and communicating the results. The integration of data through a set of indicators organised according to an environmentally balanced scorecard methodology may provide important information for decision-makers and add real value to sustainable development by helping people become conscious of sustainability-related matters. In addition, accountants need to know about the information improvements they can obtain using the EMA methodology.  相似文献   

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A vulnerability approach to climate change adaptation research is employed to explore prospects of agricultural adaptation to climatic variability and change. The methodological approach focuses on the system of concern, in this case, farms in Perth County, Ontario. Twenty-five interviews and four focus groups with farmers were used to identify climate risks on farms, and to document farmers’ responses to conditions and risks associated with climate and weather. The information collected describes a complex decision-making environment, with many forces both external and internal to the farm operation influencing management decisions. Within this environment, climate and weather are consistently referred to as a significant force influencing both farm operations and management decisions. Farmers have, however, developed a wide-range of anticipatory and reactive management strategies to manage climate risks. While these have potential to address future climate-related risks and opportunities, there are limits to adaptation, and an increase in the frequency of extreme events may exceed their adaptive capacities. Farmers are also generally unaware and/or unconcerned about future climate change, which could constrain opportunities to adopt long-term climate change adaptations.  相似文献   

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Modeling of residual chlorine in water distribution system   总被引:2,自引:0,他引:2  
Water quality within water distribution system may vary with both location and time.Water quality models are used to predict the spatial and temporal variation of water quality throughout water system.A model of residual chlorine decay in water pipe has been developed, given the consumption of chlorine in reactions with chemicals in bulk water,bio-films on pipe wall, in corrosion process, and the mass transport of chlorine from bulk water to pipe wall.Analytical methods of the flow path from water sources to the observed point and the water age of every observed node were proposed .Model is used to predict the decay of residual chlorine in an actual distribution system.Good agreement between calculated and measured values was obtained.  相似文献   

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城市废水资源化对于缺水城市或水资源污染严重的城市具有十分重要的意义。本文论述了当前城市废水资源化实践中面临的发展战略、立法、评价体系、水质标准、处理技术、设施建设、管理水平、公众态度等方面的障碍和挑战,提出了加强制定有关城市废水资源化的法规和政策、制定合理的回用水水质标准和规范、加强宣传教育、发展运行稳定且高效低耗的废水处理工艺以及将废水资源纳入整体的水资源管理体系等对策和建议。  相似文献   

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污泥农用:引发土壤污染风险   总被引:11,自引:0,他引:11  
董文茂 《环境》2007,(3):65-67
在很多人眼里,污泥堆肥被认为是件很简单的事情,将污泥进行土地化利用,也被认为是污泥资源化处理的方向之一.近年来,随着土壤污染问题浮出水面,由不同科研团队开展的土壤质量状况调查也在全国各地进行,对土壤污染成因的认识也进一步深化.  相似文献   

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近年来世界范围内新发和再发传染病的暴发严重威胁生物安全,危害人类健康.人类活动包括快速城市化、集约化养殖、全球贸易和旅行等加速了传染性疾病的传播.人群健康、动物健康和环境健康紧密相关,国际上健康一体化(One Health)的理念已被广泛接受用以管理和预防人畜共患病的暴发.城市环境是人群-微生物组-环境要素相互作用最为...  相似文献   

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张灿  曹可  赵建华 《环境保护》2020,48(7):8-13
海洋对人类社会生存和发展具有重要意义,习近平总书记要求"高度重视海洋生态文明建设,加强海洋环境污染防治,保护海洋生物多样性",要求"像对待生命一样关爱海洋"。海洋生态环境保护工作是生态文明建设的重要组成部分。本文回顾了我国海洋生态环境保护制度体系发展情况,梳理了国家机构改革打通"陆地和海洋"后体制机制改变带来的机遇,分析了一段时期内海洋生态环境保护技术支撑机构建设及能力短板,从完善制度体系和能力匹配等方面提出了"十四五"海洋生态环境保护工作展望。  相似文献   

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