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Owen P. Phillips MD Lee P. Shulman Lisa A. Altieri R. Sidney Wilroy Donald S. Emerson John V. Dacus Sherman Elias 《黑龙江环境通报》1991,11(9):705-710
A 21 -year-old woman with progressively deforming or type III osteogenesis imperfecta (OI) presented for prenatal counselling and diagnosis at 10 weeks' gestation. Family history was non-contributory. At 14.8 weeks' gestation, ultrasonographic examination revealed fetal skeletal hypomineralization, easily compressible fetal cranium, and thickened long bones, indicating that the fetus was also affected. Confirmation of the prenatal diagnosis of OI type III was made following a Caesarean section birth of a male infant with multiple skeletal deformities and blue sclerae implying, in this case, autosomal dominant inheritance. 相似文献
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Over-allocation of irrigation water has led to widespread environmental degradation in the Murray-Darling Basin (MDB) in Australia,
prompting discussions of the water efficiency performance of irrigated industries. There is increasing pressure for irrigators
to adopt water efficient practices in line with ecologically sustainable principles, especially with current drought conditions.
However, there is great uncertainty surrounding the available practices to improve irrigation efficiency from both ecological
and economic standpoints. This paper examines the economic and environmental impact of several possible water efficient practices
and government policies, using an interdisciplinary approach combining biophysical modelling and economic modelling. This
is done for the case-study of the Mooki catchment in the MDB, located in northern New South Wales, Australia. 相似文献
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Gitte Meyer 《Journal of Agricultural and Environmental Ethics》2006,19(3):239-252
This paper discusses aspects of the relationship between the scientific community and the public at large. Inspired by the European public debate on genetically modified crops and food, ethical challenges to the scientific community are highlighted. This is done by a discussion of changes that are likely to occur to journalistic attitudes – mirroring changing attitudes in the wider society – towards science and scientific researchers. Two journalistic conventions – those of science transmission and of investigative journalism – are presented and discussed in relation to the present drive towards commercialization within the world of science: how are journalists from these different schools of thought likely to respond to the trend of commercialization? Likely journalistic reactions could, while maintaining the authority of the scientific method, be expected to undermine public trust in scientists. In the long term, this may lead to an erosion of the idea of knowledge as something that cannot simply be reduced to the outcome of negotiation between stakeholders. It is argued that science is likely to be depicted as a fallen angel. This may be countered, it is posited, by science turning human, by recognizing its membership of society, and by recognizing that such membership entails more than just commercial relations. To rethink its relationship with the public at large – and, in particular, to rethink the ideal of disinterested science – is an ethical challenge facing the scientific community. 相似文献
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Ken Inoue Makoto Kanai Yuzo Tanabe Takeo Kubota Catherine D. Kashork Keiko Wakui Yoshimitsu Fukushima James R. Lupski Lisa G. Shaffer 《黑龙江环境通报》2001,21(13):1133-1136
A submicroscopic genomic duplication in Xq22.2 that contains the entire proteolipid protein 1 gene (PLP1) is responsible for the majority of Pelizaeus–Merzbacher disease (PMD) patients. We previously developed an interphase FISH assay to screen for PLP1 duplications in PMD patients using peripheral blood and lymphoblastoid cell lines. This assay has been utilized as a clinical diagnostic test in our cytogenetics laboratory. To expand usage of the interphase FISH assay to prenatal diagnosis of PLP1 duplications, we examined three PMD families with PLP1 duplications utilizing aminiotic fluid samples. In two families the FISH assay revealed fetuses with PLP1 duplications, whereas the other fetus showed a normal copy number of PLP1. Haplotype analyses, as well as an additional FISH analysis using postnatal blood samples, confirmed the results of the prenatal analyses. Our study demonstrates utility of the interphase FISH assay in the prenatal diagnosis of PLP1 duplications in PMD. Copyright © 2001 John Wiley & Sons, Ltd. 相似文献
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