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81.
We report three siblings from consecutive pregnancies affected with restrictive dermopathy (RD). During the second pregnancy, fetal behavioural development and growth were studied extensively using ultrasound at 1–4 week intervals. Dramatic and sudden changes occurred in fetal body movements and growth but not until the end of the second trimester of pregnancy. Prominent at that time were prolonged periods of fetal quiescence and very low heart rate variability, together with abnormally executed body movements of short duration. Retarded femoral development and jerky abrupt fetal body movements (abnormal movement quality) were already present in the early second trimester of pregnancy. Facial anomalies emerged despite the presence of fetal mouth movements. The clinical features of RD were only partly explained by present knowledge of skin development and the fetal akinesia deformation sequence hypothesis. Quantitative assessment of fetal movements proved to be a poor early marker for antenatal diagnosis of this disorder. Copyright © 2001 John Wiley & Sons, Ltd.  相似文献   
82.
Single cell polymerase chain reaction (PCR) for preimplantation genetic diagnosis (PGD) requires high efficiency and accuracy. Allele dropout (ADO), the random amplification failure of one of the two parental alleles, remains the most significant problem in PCR-based PGD testing since it can result in serious misdiagnosis for compound heterozygous or autosomal dominant conditions. A number of different strategies (including the use of lysis buffers to break down the cell and make the DNA accessible) have been employed to combat ADO with varying degrees of success, yet there is still no consensus among PGD centres over which lysis buffer should be used (ESHRE PGD Consortium, 1999 ). To address this issue, PCR amplification of three genes (CFTR, LAMA3 and PKP1) at different chromosomal loci was investigated. Single lymphocytes from individuals heterozygous for mutations within each of the three genes were collected and lysed in either alkaline lysis buffer (ALB) or proteinase K/SDS lysis buffer (PK). PCR amplification efficiencies were comparable between alkaline lysis and proteinase K lysis for PCR products spanning each of the three mutated loci (ΔF508 in CFTR 90% vs 88%; R650X in LAMA3 82% vs 78%; and Y71X in PKP1 91% vs 87%). While there was no appreciable difference between ADO rates between the two lysis buffers for the LAMA3 PCR product (25% vs 26%), there were significant differences in ADO rates between ALB and PK for the CFTR PCR product (0% vs 23%) and the PKP1 PCR product (8% vs 56%). Based on these results, we are currently using ALB in preference to PK/SDS buffer for the lysis of cells in clinical PGD. Copyright © 2001 John Wiley & Sons, Ltd.  相似文献   
83.
In a population of crested tits in Belgium, one out of three breeding males participated in nest-building. Since variation in the amount of nest-building among 11 building males was low, analysis of male nest-building allowed a logistic regression design. The probability of building increased with male condition and for late nests. The effect of male condition decreased with date, and date was the only factor predicting nest-building for repeat broods. The effect of male condition on nest-building suggests that building entails important costs for males. Based on correlative data, we argue that building by males shortens the interval between the start of nest-building and the onset of egg-laying by about 5 days. Since clutch size, incubation and nestling time did not differ between early and late broods, male nest-building apparently affects fledging date. Since early fledgers (early dispersers) are more likely to settle in future winter flocks, building behaviour by crested tit males should be favoured by natural selection. So far, male nest-building in hole-breeding birds might have been overlooked due to the widespread use of artificial nest-boxes in behavioural studies.  相似文献   
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Cultural heritage is being addressed by a number of charters and conventions and it is clear that its consideration within decision-making processes is progressively becoming a real challenge, both for developers and public authorities. Against this background, this paper reviews the environmental assessment framework developed by the European Community, as this should increasingly influence decision making about cultural heritage in an urban setting. The legislative framework for access to environmental information is also reviewed because of its relevance to the decision-making process.The Directives on Environmental Impact Assessment and Strategic Environmental Assessment both require a consideration of cultural heritage in decision making. This requirement can go some way to addressing the paradox in the European Community's position whereby the community wishes to conserve and enhance its own cultural identity whilst, at the same time, cultural heritage is usually defined at a local level. The present paper suggests that, given their flexibility, the two European Community directives on environmental assessment constitute a promising opportunity to address this seeming paradox, but that there is a significant gap between legal obligations and the methodological tools to meet them.  相似文献   
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The effect of industrial air pollution on natural small mammal populations has been studied in the northern taiga subzone of the boreal forest zone. The results of long-term monitoring have been used to demonstrate the possibility of predicting changes in the main population and community characteristics of the animal species studied as dependent on the degree of anthropogenic impact.  相似文献   
89.
Peregrine falcons (Falco peregrinus) have been recorded nesting in Big Bend National Park, Texas, USA and other areas of the Chihuahuan Desert since the early 1900s. From 1993 to 1996, peregrine falcon productivity rates were very low and coincided with periods of low rainfall. However, low productivity also was suspected to be caused by environmental contaminants. To evaluate potential impacts of contaminants on peregrine falcon populations, likely avian and bat prey species were collected during 1994 and 1997 breeding seasons in selected regions of western Texas, primarily in Big Bend National Park. Tissues of three peregrine falcons found injured or dead and feathers of one live fledgling also were analyzed. Overall, mean concentrations of DDE [1,1-dichloro-2,2-bis(p-chlorophenyl)ethylene], a metabolite of DDT [1,1,1-trichloro-2,2-bis(p-chlorophenyl)ethane], were low in all prey species except for northern rough-winged swallows (Stelgidopteryx serripennis, mean = 5.1 microg/g ww). Concentrations of mercury and selenium were elevated in some species, up to 2.5 microg/g dw, and 15 microg/g dw, respectively, which upon consumption could seriously affect reproduction of top predators. DDE levels near 5 microg/g ww were detected in carcass of one peregrine falcon found dead but the cause of death was unknown. Mercury, selenium, and DDE to some extent, may be contributing to low reproductive rates of peregrine falcons in the Big Bend region.  相似文献   
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