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With improvements in early diagnosis and management of genetic diseases, more women with genetic disorders are reaching reproductive age and becoming pregnant. While pregnancy can have a significant impact on a woman's health when there is an underlying genetic disorder, there can also be fetal effects, including embryopathy, fetal growth restriction, and brain injury. Some maternal genetic disorders are associated with adverse perinatal outcomes, including a high risk of perinatal loss and preterm birth. In this article, we review several maternal genetic disorders associated with fetal risk that are important for clinicians and patients to understand and manage appropriately. These include phenylalanine hydroxylase (PAH) deficiency and other inborn errors of metabolism, tuberous sclerosis complex, myotonic dystrophy, cystic fibrosis, Turner syndrome, sickle cell disease, and connective tissue disorders. 相似文献
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Risk-based regulation assumes that risk assessment can evaluate risks against policy objectives. However, policy goals are often ambiguous and require risk assessors to interpret them for use in risk assessment. This risk assessment-policy gap stems partly from normative and imprecise policy language but is rooted more fundamentally in society's uncertain expectations for the environment. Until this uncertainty is resolved, the democratic and regulatory effectiveness of risk regulation will be undermined by ad hoc policy decisions abdicated to risk assessors. 相似文献
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Anne Bonnefond Joceline Rogé Alain Muzet 《International journal of occupational safety and ergonomics》2006,12(3):221-229
The frequency of some behaviour (such as self-centred gestures) increases during a task that leads to the occurrence of low-vigilance episodes. These gestures can be useful in stimulating oneself. A study carried out in 20 adults has enabled us to state that motor activity (recorded with an actimeter) increases with the duration of a monotonous driving task and sleep deprivation. The analysis of the scores recorded using the Karolinska Sleepiness Scale has shown that drivers can assess the deterioration of their state of vigilance according to the actual sleep preceding the driving test. Finally, the joint analysis of the subjective and objective data revealed a co-variation of these two types of indices. We discuss the stimulatory function of the motor activity in a task leading to the occurrence of low-vigilance episodes by investigating, among other things, the use, conscious or not, of this type of activity. 相似文献
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The effects of pathway configuration, landmarks and stress on environmental cognition 总被引:1,自引:0,他引:1
Gary W. Evans Mary Anne Skorpanich Tommy Grling Kendall J. Bryant Brian Bresolin 《Journal of environmental psychology》1984,4(4):323-335
The results of this study indicate that manipulations of the pathway grid configuration and landmark placement in a setting cause changes in environmental knowledge. These experimental manipulations were accomplished using a realistic, dynamic simulation technique at the Berkeley Environmental Simulation Laboratory. Measures of environmental knowledge include: memory for incidental information along the simulated urban route, accuracy of route maps, relocation memory for scenes along the route, and questionnaire measures. Data are also presented showing both positive and negative effects of stress from noise on the processes of environmental cognition. 相似文献
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Peter F. Larsen Vincent Zdanowicz Anne C. Johnson Lee F. Doggett 《Chemistry and Ecology》1983,1(3):191-200
The concentrations in surface sediments of the trace metals Cd, Cr, Cu, Ni, Pb and Zn have been determined at 32 stations in the Casco Bay region of the Gulf of Maine. The metals are not distributed homogeneously but exhibit elevated levels around the Portland waterfront and generally low levels at offshore and tidally scoured stations. Comparison of these results to those from both industrialized and non-industrialized sites throughout New England indicates that the sediments in parts of the Casco Bay region are affected by trace metals. 相似文献
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