Prenatal diagnosis for huntington's disease: A molecular and psychological study

Two linked probes were used to determine the Huntington's disease status of the fetus conceived by a woman affected with the condition. The fetus was found to be unaffected with a certainty of 97 per cent. The ethical issues associated with presymptomatic testing were avoided since the mother presented with initial symptoms of Huntington's disease, but other psychological and ethical issues arose. The concerns of an affected woman planning a pregnancy, and the dilemmas involved in decision-making regarding prenatal diagnosis and possible selective abortion were exposed and explored with the patient and her husband.     

Rapid prenatal diagnosis of Patau's syndrome in a fetus with an abdominal wall defect by 72 hour culture of cells from amniotic fluid

A woman in the 32nd week of pregnancy was referred for investigation because of fetal abnormalities, including an abdominal wall defect, detected by ultrasonography. In view of the increased risk of chromosome abnormality, amniocentesis was performed to enable informed decisions about the management of the pregnancy and delivery to be taken. Cells from the liquor were inoculated into standard lymphocyte culture medium and incubated for 72 h. Slides with a high mitotic index and good quality metaphases, comparable to those from a blood culture, were obtained after harvesting. Cytogenetic analysis showed the karyotype to be 46,XY,—14,+t(13ql4q), which is consistent with Patau's syndrome. This technique appears to be an option for rapid karyotyping in cases of abdominal wall defect, where a chromosomal abnormality is suspected.     

渤海江豚组织中钠,钙,锶,镁,磷,钾的研究

１９９０年，作者于辽东湾采集了１０头江豚标本，分别测定了其骨骼、皮肤、肌肉、肝脏、肺、肾、心、胃、肠、胰、脾、肾上腺及生殖腺等１３种组织中Ｃａ、Ｓｒ、Ｍｇ、Ｐ、Ｋ、Ｎａ６种元素的含量，详细分析了骨骼及其他各组织中的Ｃａ／Ｍｇ值、Ｃａ／Ｋ值、Ｃａ／Ｐ值、Ｃａ／Ｎａ值和Ｃａ／Ｓｒ×１００值。结果表明，Ｃａ、Ｓｒ、Ｍｇ、Ｐ，Ｋ在骨骼中累积率最高，钾在肌肉中具有高累积，Ｓｒ、Ｃａ在肌肉中累积率最低；Ｍｇ累积率最低的组织是生殖腺，Ｐ累积率最低的组织是肠，而Ｋ在骨骼中，Ｎａ在肌肉中的累积率均高于其他组织。分析结果还显示，Ｃａ／Ｍｇ值最高的是骨骼，最低为肌肉，Ｃａ／Ｐ值最高的是骨骼，最低的是肌肉和胰脏，Ｃａ／Ｋ值最高为骨骼，最低为脾Ｃａ／Ｓｒ×１００值最高为肺、最低为肠，而Ｋ／Ｎａ值最高为肌肉，最低为骨骼，在骨中Ｃａ／Ｐ值大约为１，类同于猫和人类。     

Influence of chlorsulfuron herbicide on size of microbial biomass in the soil

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南京东郊石炭纪威宁期的风暴沉积

南京东郊石炭纪威宁期碳酸盐岩地层中普遍见有风暴沉积,以有突变的底界和底面构造、贝壳层、粒序层以及在风暴低能快速堆积条件下所形成的遮蔽构造等为基本鉴别要素,这些要素的不同组合构成的剖面结构可划分为五种类型,据此笔者提出本区风暴沉积的综合剖面结构。     

浅谈吉林省西部草原"三化"治理对策

随着吉林省农牧业进入新的发展阶段,结构调整、提高效益、改善生态环境已经成为现阶段农牧业和农村经济发展的重要任务,草原作为西部生态系统的重要组成部分,也是治理的重点.在结合现有的资料对吉林省西部草原"三化"的原因进行分析,并提出相应治理对策.     

浅淡西部地区可持续发展中的污水处理问题

西部地区水污染问题已经成为制约西部可持续发展因素之一.从环保意识、工艺适合性、资金的投入、经营体制、立法政策等5个方面分析了西部地区在污水处理上存在的问题,并提出了相应的对策和建议.     

陆架浅海沉积物-海水界面溶质通量的计算方法及其应用

陆架浅海沉积物—海水界面上的溶解态生源物质通量的准确估算是海洋生态系统动力学研究中的关键性问题之一。由于底栖生物活动以及海流、海浪及潮波与海底地形地物相互作用的影响 ,使得该通量的准确估算十分困难。本文综合分析讨论了近年来提出的各种计算该类通量的物理模型及参数的确定方法 ,并结合在中国黄、东海等陆架浅海水层—底栖生态动力学耦合模型研究的需要 ,比较深入地讨论了应用过程中应该考虑的几个问题     

西部大开发与内河水运可持续发展浅析

结合国家西部大开发的发展战略和西部生态环境特点，分析了西部内河水运可持续发展问题的特点，从建立健全环境管理体系、开展系统性的科研与教育工作、建立完善法规和标准体系等几个方面浅析了建立和完善内河水运可持续发展体系的必要性和关键内容。     

Prenatal exclusion of Hurler's disease by leucocyte α-L-iduronidase assay

Hurler's disease was excluded in a fetus at 23 weeks' gestation by demonstrating normal iduronidase activity in fetal leucocytes following failure of amniotic cell culture after amnic-centesis at 16 and 19 weeks' gestation. The diagnosis was confirmed in the neonate.