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121.
Stickler syndrome or hereditary progressive arthro-ophthalmopathy, is an autosomal dominant condition characterized by ocular manifestations, arthritic changes, orofacial features and deafness, in variable degrees. We report the first case of prenatal diagnosis of Stickler syndrome in a child with a Pierre–Robin sequence (PRS) causing a polyhydramnios. When isolated polyhydramnios is not explained by immunological, metabolic or infectious causes, swallowing difficulty due to PRS must be considered. As PRS is aetiologically heterogenous, the prognosis depends on the cause. Genetic investigations and familial history must be taken into account. Here, in a context of familial Stickler syndrome, making the prenatal diagnosis of PRS as part of Stickler syndrome allowed us to reassure the parents and to anticipate airway trouble at the child's birth. Copyright © 2002 John Wiley & Sons, Ltd. 相似文献
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Sabine Meinecke-Tillmann 《Die Naturwissenschaften》1985,72(11):592-598
On the basis of the embryo transfer new and developing biotechnologies including cryopreservation of embryos, sex predetermination and sex diagnosis (sexing), in vitro fertilization, cloning and production of chimaeras and of transgenic animals are discussed. 相似文献
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Dr Ingo Kennerknecht Sabine Krämer Dieter Grab Rainer Terinde Walther Vogel 《黑龙江环境通报》1993,13(4):257-269
Data in the literature suggest that confined placental mosaicism might be associated with intrauterine growth retardation. However, this association may be coincidental and due to bias of ascertainment. We therefore started a prospective study based on the cytogenetic evaluation of placentae derived from growth-retarded newborns. We further minimized possible bias by excluding those small-for-date infants displaying findings which already could explain intrauterine growth retardation (mothers who are smokers, multiple pregnancies, gestosis, dysmorphic infants). In a collection of 71 small-for-gestational age newborns, we did not see a single case of true confined placental mosaicism. 相似文献
126.
BFR-governmental testing programme 总被引:4,自引:0,他引:4
As a consequence of results from recent studies, indicating increasing concentrations of polybrominated diphenyl ethers (PBDEs) in a wide range of environmental samples, governments have begun to consider the need to restrict the production and use of this compound group. Within the EU, it has been decided to cease production and use of the pentamix PBDE formulation, and the industry has already moved to alternative compounds. In Asia, the Japanese industries restrict voluntarily the production and use of polybrominated biphenyls (PBBs), hexabromodiphenyl ether and tetrabromodiphenyl ether. In North America, no such decisions have been taken as yet, and production of the pentamix continues. Ecolabelling and ecological product declarations are also being used in order to accelerate the phase-out process of brominated flame retardant (BFR). They restrict to different degrees the use of BFR in plastic, textiles, flexible floorings and insulating materials. Many governments have also initiated studies intended to provide more information on the octamix and decamix PBDE formulations, and the replacement compounds hexabromocyclododecane (HBCD) and tetrabromobisphenol A (TBBPA), regarding their significance as environmental contaminants and to inform the need for further regulatory action. These studies are summarised below. 相似文献
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Dr Iris Bartels Barbara Hoppe-Sievert Barbara Bockel Sabine Herold Julius Caesar 《黑龙江环境通报》1993,13(2):123-130
Serum levels of alpha-fetoprotein (AFP), human chorionic gonadotropin (hCG), and un-conjugated oestriol (uE3) were measured in serum samples of 4131 non-smoking and 1018 smoking women during the second trimester of pregnancy. The levels of all three analytes decreased with increasing body weight. The AFP median was significantly increased in smokers in a dose-response association; hCG decreased by 21 per cent and uE3 decreased by 3 per cent in smokers in a non-dose-related fashion. Regression functions for adjustment of serum levels for weight and smoking should be considered in risk estimation for Down syndrome in order to give a woman's individual risk more precisely. 相似文献
129.
Zoriy MV Varga Z Pickhardt C Ostapczuk P Hille R Halicz L Segal I Becker JS 《Journal of environmental monitoring : JEM》2005,7(5):514-518
An analytical procedure has been proposed for the determination of (226)Ra at the low femtogram per ml concentration level in mineral water samples using double focusing sector field ICP-MS (ICP-SFMS). For the pre-concentration and separation of radium from the matrix elements in water a tandem of a laboratory-prepared filter, based on MnO(2), and Eichrom "Sr-specific" resin was used. The recovery of the method was determined to be 70.5%. The limit of detection for (226)Ra determination was 0.02 fg ml(-1), including a pre-concentration factor of 10. In addition, uranium concentration and uranium isotope ratios were measured by ICP-SFMS. In several mineral water samples with a relatively high uranium content, (226)Ra concentrations were found between 0.7-15 fg ml(-1). The effective dose of the contribution was calculated using the radionuclide concentration and dose conversion factors from the World Health Organization, WHO (1993). Assuming a mineral water consumption of 2 l d(-1), a slightly higher calculated dose than the suggested limit for drinking water (0.1 mSv y(-1)) was found in some samples. 相似文献
130.
This assessment of the environmental protection regulatory system for the $2.2 billion iron and steel plant, oil refinery, and thermal generating station composing the core of the greenfield Nanticoke industrial complex is based upon: the use of governmental and industrial research in project management; technology and institutional arrangements for environmental protection; evidence of environmental changes to date; analysis of government and industrial approval files; and interviews with government, industry, and interest group representatives. Planning, regulation, and management have been reasonably efficient and effective to the beginning of the operational stage for all three major industries as of spring 1980. Of major future concern, however, is management of the cumulative and synergistic impacts of the industries and associated development on air quality as well as the lands, waters, and sensitive ecosystems of the nearby Lake Erie coast. Continuous monitoring, more comprehensive research, and better overall coordination of government, industrial, and public interests are required if Nanticoke benefits are to be achieved without undue cost to pre-project resource users within and outside the Haldimand-Norfolk region. 相似文献