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11.
Citrullinaemia was presumed to be excluded in a fetus at risk by the direct assay of argininosuccinate synthetase in chorionic villi. The diagnosis was confirmed after amniocentesis by normal argininosuccinate synthetase activity in the cultured amniotic fluid cells and by a normal citrulline concentration in the amniotic fluid. The prediction of a normal fetus was confirmed at term by the birth of a non-citrullinaemic boy.  相似文献   
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Maternal serum free beta (hCG) levels are elevated (median 2·20 MOM) in the first trimester of pregnancy in 38 Down syndrome cases as compared with appropriate controls. This observation may form the basis for its use as a marker in screening for Down syndrome in the first trimester. Altered levels of the free beta analyte are observed in pregnancy conditions or complications other than Down syndrome.  相似文献   
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We have devised and evaluated a rapid screening method for the detection of numerical aberrations of chromosomes13, 18 and 21 in chorionic villus cells. We used non-radioactive in situ hybridization (ISH) with three chromosome-specific probes on overnight-attached mesenchymal cells from chorionic villi. A blind study was performed of 47 karyotypically normal samples, one triploid sample, two samples trisomic for chromosome 21, and two samples from a fetus with putative mosaicism (46/47, +21). All samples were hybridized with the chromosome 18- and 21-specific probes. Thirty samples were additionally hybridized with the chromosome 13-specific probe. The test could be completed within 3-4 days of sampling. In samples disomic with respect to the probed chromosomes, an average of 2 per cent (range 0-9 per cent) had three hybridization signals. By contrast, in the samples trisomic for the probed chromosome(s), 57 per cent (chromosome 13), 51 per cent (chromosome 18), and an average of 74 per cent (55-86 per cent) (chromosome 21) of the nuclei exhibited three signals. In the putative mosaic samples, the number of nuclei with three chromosome 21-specific signals ranged from 41 to 69 per cent. We conclude that this technique rapidly and clearly distinguishes between normal and trisomic/triploid samples, and consequently may be of use in future prenatal diagnosis.  相似文献   
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Major mining companies have recently embraced the sustainable development paradigm, in seeking to improve their competitiveness and increase shareholder returns. Successful mine closure is one important element of this process. Improved performance in this area is essential if surrounding communities are to see mining companies as responsible corporate and social partners.
In Indonesia, the new approach has coincided with the development of specific mine closure legislation. To facilitate the legislation, a consortium of mining companies joined to form the Industry Mine Closure Steering Committee. This Committee has lobbied the Government, actively negotiating to incorporate sustainable development ideals and practices into the new legislation. The Committee's aim has been to foster continued development of the mining industry, while taking account of variation in environmental, social and community conditions. In describing the process, this article seeks to provide guidance for the development of mine closure legislation in other nations.  相似文献   
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The proposed Cotingo Dam in Brazil's far northern state of Roraima is examined with the objective of drawing lessons for Brazil's system of evaluating environmental, social, and financial consequences of development decisions. The Cotingo Dam illustrates the difficulty of translating into practice the principles of economic and environmental assessment. Examination of the financial arguments for the Cotingo Dam indicates that justifications in this sphere are insufficient to explain why the project is favored over other alternatives and points to political factors as the best explanation of the project's high priority. Strong pressure from political and entrepreneurial interest groups almost invariably dominates decision making in Amazonia. The analysis indicates the inherent tendency of the present system to produce decisions in favor of large construction projects at the expense of the environment and local peoples. The requirements intended to assure proper weight for these concerns, such as the report on environmental impacts (RIMA) and the public hearing, fail to serve this role. Cotingo also provides a test case for constitutional protections restricting construction of dams in indigenous lands.  相似文献   
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A measure of soil P status in agricultural soils is generally required for assisting with prediction of potential P loss from agricultural catchments and assessing risk for water quality. The objectives of this paper are twofold: (i) investigating the soil P status, distribution, and variability, both spatially and with soil depth, of two different first-order catchments; and (ii) determining variation in soil P concentration in relation to catchment topography (quantified as the "topographic index") and critical source areas (CSAs). The soil P measurements showed large spatial variability, not only between fields and land uses, but also within individual fields and in part was thought to be strongly influenced by areas where cattle tended to congregate and areas where manure was most commonly spread. Topographic index alone was not related to the distribution of soil P, and does not seem to provide an adequate indicator for CSAs in the study catchments. However, CSAs may be used in conjunction with soil P data for help in determining a more "effective" catchment soil P status. The difficulties in defining CSAs a priori, particularly for modeling and prediction purposes, however, suggest that other more "integrated" measures of catchment soil P status, such as baseflow P concentrations or streambed sediment P concentrations, might be more useful. Since observed soil P distribution is variable and is also difficult to relate to nationally available soil P data, any assessment of soil P status for determining risk of P loss is uncertain and problematic, given other catchment physicochemical characteristics and the sampling strategy employed.  相似文献   
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To identify the potential sources responsible for the particulate matter emission from secondary iron and steel smelting factory environment, PM2.5 and PM2.5?10 particles were collected using the low-volume air samplers twice a week for a year. The samples were analyzed for the elemental and black carbon content using x-ray fluorescence spectrometer and optical transmissometer, respectively. The average mass concentrations were 216.26, 151.68, and 138. 62 μg/m3 for PM2.5 and 331.36, 190.01, and 184.60 μg/m3 for PM2.5?10 for the production, outside M1 and outside M2 sites, respectively. The same size resolved data set were used as input for the positive matrix factorization (PMF), principal component factor analysis (PCFA), and Unmix (UNMIX) receptor modeling in order to identify the possible sources of particulate matter and their contribution. The PMF resolved four sources with their respective contributions were metal processing (33 %), e-waste (33 %), diesel emission (22 %) and soil (12 %) for PM2.5, and coking (50 %), soil (29 %), metal processing (16 %) and diesel combustion (5 %) for PM2.5?10. PCFA identified soil, metal processing, Pb source, and diesel combustion contributing 45, 41, 9, and 5 %, respectively to PM2.5 while metal processing, soil, coal combustion and open burning contributed 43, 38, 12, and 7 %, respectively to the PM2.5?10. Also, UNMIX identified metal processing, soil, and diesel emission with 43, 42 and 15 % contributions, respectively for the fine fraction, and metal processing (71 %), soil (21 %) and unidentified source (1 %) for the coarse fraction. The study concluded that metal processing and e-waste are the major sources contributing to the fine fraction while coking and soil contributed to the coarse fraction within the factory environment. The application of PMF, PCFA and UNMIX receptor models improved the source identification and apportionment of particulate matter drive in the study area.  相似文献   
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