Prenatal diagnosis of glutathione synthase deficiency

Prenatal diagnosis for glutathione synthase (EC 6·3.2·3) deficiency in two pregnancies of an at-risk couple was performed on amniotic fluid taken at 16 weeks' gestation. 5-Oxoproline (pyroglutamic acid) levels were 970 and 790 μmol/l compared with the normal mean value of 29 μmol/l (range 13–51 μmol/l). The pregnancies were terminated and the diagnosis in one case was subsequently confirmed by assay of glutathione synthase in cultured fetal fibroblasts. In the other, post-mortem tissue samples failed to grow.     

韧性剪切作用与深源流体演化和金矿化的耦合关系

流体形成演化是当前地球科学的前沿领域，但构造-流体-成矿作用的研究仍很薄弱。文章通过对流体性质的分析，探讨了地质作用过程中流体演化、韧性剪切带中流体演化与矿化的关系。提出当韧性剪切转为脆性剪切时产生的扩容，导致深源流体发生骤然减压冷却，并与地壳浅部流体混合，发生与围岩的交代反应而形成热液蚀变。成矿作用发生于深源流体与上地壳流体的“混合”阶段及流体与围岩交代反应阶段。     

β-glucuronidase deficiency: Identification of an affected fetus with simultaneous sampling of chorionic villus and amniotic fluid

Four pregnancies at risk for mucopolysaccharidosis VII were monitored by chorionic villus sampling obtained in the first or second trimester of gestation. One fetus showed reduced β-glucuronidase activity following simultaneous sampling of chorionic villus and amniotic fluid at 17 weeks of gestation. The pregnancy was terminated. Subsequent assay of β-glucuronidase activity in the fetal tissues was consistent with a diagnosis of mucopolysaccharidosis VII, thus confirming that chorionic villus samples provide useful information for diagnosis of this condition.     

Amniotic fluid disaccharidases in the prenatal detection of cystic fibrosis

Intestinal disaccharidases in amniotic fluid were studied in 41 pregnancies with a recurrence risk for cystic fibrosis (CF). In 11 out of 13 pregnancies with CF fetuses the maltase and sucrase activities were either below the control range (8 cases) or below the 10th percentile of control values (3 cases). Trehalase and lactase were slightly less informative indicators of CF. Of the other 28 pregnancies 3 had low amniotic fluid activities of several intestinal enzymes and were terminated, 12 resulted in the birth of a healthy child and 13 are continuing. The findings in fetal CF suggest an impairment of the defaecation of intestinal contents into the amniotic fluid. Reduced or low amniotic fluid disaccharidase activities were also found in other fetal disorders with demonstrated or presumed intestinal anomalies: e.g. anal atresia (2 cases), anencephaly (3 our of the 7 cases), trisomy 13 (5 cases), trisomy 18 (3 of the 5 cases) and trisomy 21 (19 of the 22 cases). Reduced amniotic fluid disaccharidase activities, although not specific for CF, are highly informative in pregnancies at high risk for CF. Using the 10th percentile of the normal range for amniotic fluid disaccharidase activities as an action line, the sensitivity of CF detection is estimated at 80 to 90 per cent, which could in high risk pregnancies reduce the risk of having another affected child from 1 in 4 to 1 in 20.     

Amniotic fluid acetylcholinesterase measurement in the prenatal diagnosis of open neural tube defects. Second report of the collaborative acetylcholinesterase study

Seventeen centres from Australia, Britain, France, and the United States collaborated in a study to compare amniotic fluid acetylcholinesterase (AChE) determination by gel electrophoresis and amniotic fluid alpha-fetoprotein (AFP) measurement as diagnostic tests for open neural tube defects. The study was based on 32 642 women with singleton pregnancies (including 428 with open spina bifida and 238 with anencephaly) who had an amniocentesis at 13–24 weeks' gestation. The AChE test yielded a detection rate for open spina bifida of 99 per cent (95 per cent confidence interval 98–100 per cent), 98 per cent for anencephaly (95 per cent confidence interval 96–100 per cent), and a false-positive rate of 0.34 per cent (95 per cent confidence interval 0.28–0.40 per cent) excluding miscarriages, intrauterine death, and serious fetal abnormalities. The false-positive rate was 0.30 per cent among the 13 centres that used a specific AChE inhibitor in the test. Comparable rates for the AFP test were less favourable. (For example, the open spina bifida detection rate was 90 per cent and the false-positive rate was 0.46 per cent using the cut-off levels specified in the U.K. Collaborative AFP Study.) The AChE false-positive rate was lower in samples that were not bloodstained (0.16 per cent) than in those that were (2.4 per cent). It was higher in women who had an amniocentesis on account of a raised maternal serum AFP level (0.56 per cent) than in those who had one for other reasons (0.29 per cent). The best results were obtained by a combination of the two tests, an effective and economical policy being to perform the AFP measurement on all amniotic fluid samples and an AChE test on samples with AFP levels greater than or equal to 2.0 multiples of the normal median (about 5 per cent of all samples). Using this policy, the open spina bifida detection rate was 96 per cent and the false-positive rate was 0.14 per cent (0.06 per cent for samples that were not bloodstained and 1.2 per cent for those that were; 0.40 per cent for women with raised serum AFP levels and 0.09 per cent for other women). This policy offers a useful improvement to the prenatal diagnosis of open spina bifida.     

安徽铜陵鸡冠石银(金)矿床地质地球化学特征

鸡冠石银 (金 )矿床是铜陵地区一个具中型规模的银 (金 )矿床 ,在整个长江中、下游地区都有其代表性。矿床分四个主要成矿阶段 :夕卡岩阶段、氧化物 -硫化物阶段、石英 -硫化物阶段和石英多金属硫化物-碳酸盐阶段。对矿床的微量元素分析结果表明 ,独立的银、金矿物和含Au、Ag低的硫化物、含Ag硫盐矿物 ,主要形成于热液成矿期中晚阶段 ;矿床的轻、重稀土元素总浓度比值与辉石二长闪长岩相近 ,反映出二者的同源特征 ;稳定同位素和流体包裹体成分分析结果 ,反映出该矿床以岩浆热液为主的成因标志 ;成矿热液以岩浆水为主 ,但在成矿晚期有大气降水和地层成分加入 ;成矿流体为NaCl-KCl -H2 O体系 ;矿床成因属夕卡岩 -中低温热液充填 -交代型矿床     

平溪特大桥滑坡滑动机理分析与研究

平溪特大桥滑坡是贵州省近年来发生的严重地质灾害,本文采用过程机制法和有限单元法相结合的分析手段,重点研究了该滑坡产生的机理和坡体变形破坏的演变过程,希望对山区公路建设中的滑坡防治工程有所帮助。     

渗透法处理高盐废水的原理及工艺

高浓度含盐废水的主要处理方法有反渗透、离子交换、蒸馏等,目前处理成本比较高.为改变当前高盐废水处理成本居高不下的现状,受渗透的基本原理启发,以分析渗透法处理高盐废水的基本原理为基础,提出渗透法处理高盐废水的新工艺.以溶质氨的设计溶液为例,分析高盐废水处理的新工艺流程及工艺的可行性,并对比反渗透工艺,详细阐述新工艺的特点.经计算分析认为,基于渗透原理的高盐废水处理工艺可降低高盐废水的处理成本,可作为高含盐废水处理方法的一个新的研究方向.     

危机管理的原则、策略和过程

频发的突发公共事件造成的危机已经成为社会管理生活中不可避免的重大挑战，危机管理也就成为各国和各级政府都必须认真对待的重要问题，本文归纳了危机管理中应遵循的原则，运用的策略以及处理危机的过程。     

有限元分析软件在过盈配合联接安全核算中的应用

ANSYS有限元分析软件正在被广泛应用于机械行业，岩土工程，电磁场分析，热力学分析以及流体力学等各个领域，由于其分析速度快，精度高，使用方便而成为当前国际有限元分析的主流软件。本文以标准直齿圆柱齿轮和轴的过盈配合为例，说明了ANSYS有限元分析软件在过盈配合联接安全核算中是可以适用的。文中对过盈配合联接中有限元分析力学模型的建立，单元型式的选取，分网精度的确定以及加载方式等，提出了自己的见解，并对部分后处理结果进行了简要分析。