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1.
In recent years, an increasing number of inherited diseases in man have been recognized in which there is an impairment in the peroxisomal β-oxidation of very-long-chain fatty acids. In general, these disorders are associated with severe neurological and physical abnormalities and death within the first years of life. In this paper we describe our experience with regard to the prenatal diagnosis of a number of different inborn errors of peroxisomal β-oxidation. Eleven pregnancies at risk were monitored by measuring very-long-chain fatty acid levels as well as very-long-chain fatty acid β-oxidation in cultured chorionic villous fibroblasts and/or amniotic fluid cells. Five affected fetuses were identified. It is concluded that prenatal diagnosis in this group of diseases can be done reliably using cultured chorionic villous fibroblasts or amniotic fluid cells.  相似文献   
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Hourly total hydrocarbon (THC) data, spanning 1990–2008 from a California air pollution station located near the Coal Oil Point (COP) seep field, were analyzed and clearly showed geologic CH4 emissions as the dominant local source. Annual COP emissions are conservatively estimated as 0.015 Tg CH4 year?1 and represent a natural and concentrated geologic methane source (24 m3 m?2 day?1 gas flux at some active seeps, Clark et al., 2010). For a sense of the scale and potential importance to the regional Southern California methane budget, COP emits an amount equivalent to 8% of the estimated Los Angeles County anthropogenic emissions. Station THC measurements near COP showed a strong wind dependency with elevated levels closely correlated with a sonar-derived spatial distribution of seep field emissions. THC varied seasonally, with a maximum in January and minimum in July and a peak-to-peak amplitude of 0.24 ppm. The seasonal signal was more readily apparent midday (R2 = 0.69 harmonic fit), compared to nighttime and morning (R2 < 0.45). The bimodal diel THC pattern consisted of seasonally-modulated peaks in the morning and evening.THC temporal and spatial trends were consistent with both transport and source emission variations. Long-term, annual seep field emissions consistently decreased on a field-wide basis until the late 1990s, before increasing consistently, most likely as a function of underlying geologic processes. This study demonstrates the value of municipal air quality monitoring stations for insight into local greenhouse gas sources and highlights the non-negligible and variable contribution from marine geologic seepage.  相似文献   
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Kolen B  Helsloot I 《Disasters》2012,36(4):700-722
On 30 May 2008, the Government of the Netherlands informed the national parliament about the effectiveness of preventive evacuation of coastal and river areas in case of flooding. Analysis of a case study showed that it is impossible to evacuate coastal areas preventively within a 48-hour time span preceding a worst credible scenario flood caused by a storm surge. This fact illustrates the need for alternative evacuation strategies, such as vertical evacuation (evacuating to safe havens, inside the flood zone) or shelter-in-place (hiding), to reduce loss of life and the impact of the evacuation. This paper defines these strategies and demonstrates, by returning to the case study used by the Dutch government, that they require different measures, methods of approach, and crisis management processes. In addition, it addresses the need for flexible and scalable preparation so that after detecting and understanding the threat, authorities and citizens can make decisions about different evacuation strategies.  相似文献   
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Interest in the concept—and implementation—of environmental excellence is at an all-time high. A wealth of examples from individual companies, trade associations, states, industry coalitions, and the federal government illustrate the growing acceptance by a wide range of stakeholders of a management systems approach to environmental issues. Perhaps nowhere is this more clear than in the collection of public comments submitted to EPA in response to its January 15, 1993, Federal Register notice, which proposed the creation of an Environmental Leadership Program (ELP). The authors, both of whom worked on the ELP, review these public comments and offer a set of “do's and don'ts” for organizations interested in establishing an environmental excellence program. In addition, the authors outline the Green Track proposal, a plan to structure an alternate regulatory pathway based on environmental excellence.  相似文献   
5.
The aim of this paper is to deepen the understanding of the relationship between country logistics performance and disaster impact. The relationship is analysed through correlation analysis and regression models for 117 countries for the years 2007 to 2012 with disaster impact variables from the International Disaster Database (EM‐DAT) and logistics performance indicators from the World Bank. The results show a significant relationship between country logistics performance and disaster impact overall and for five out of six specific logistic performance indicators. These specific indicators were further used to explore the relationship between country logistic performance and disaster impact for three specific disaster types (epidemic, flood and storm). The findings enhance the understanding of the role of logistics in a humanitarian context with empirical evidence of the importance of country logistics performance in disaster response operations.  相似文献   
6.
Bas Kolen  Ira Helsloot 《Disasters》2014,38(3):610-635
A traditional view of decision‐making for evacuation planning is that, given an uncertain threat, there is a deterministic way of defining the best decision. In other words, there is a linear relation between threat, decision, and execution consequences. Alternatives and the impact of uncertainties are not taken into account. This study considers the ‘top strategic decision‐making’ for mass evacuation owing to flooding in the Netherlands. It reveals that the top strategic decision‐making process itself is probabilistic because of the decision‐makers involved and their crisis managers (as advisers). The paper concludes that deterministic planning is not sufficient, and it recommends probabilistic planning that considers uncertainties in the decision‐making process itself as well as other uncertainties, such as forecasts, citizens responses, and the capacity of infrastructure. This results in less optimistic, but more realistic, strategies and a need to pay attention to alternative strategies.  相似文献   
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Maternal uniparental disomy (UPD) 20 was found in a 35-month-old girl, the product of a pregnancy complicated by a prenatal diagnosis of mosaic trisomy 20. Phenotypic abnormalities included pre- and postnatal growth failure, microcephaly, minor dysmorphic features and psychomotor developmental delay. Chromosomal analysis on cord blood revealed only a normal 46,XX karyotype. Microsatellite analysis of 27 chromosome 20 loci confirmed maternal UPD for all 11 informative markers. Maternal heterodisomy was detected in two and maternal isodisomy in three loci. In the remaining six loci, a non-informative maternal UPD pattern was displayed, as mother and proband are homozygous for the same allele. To our knowledge this is the first reported case of maternal disomy 20 with normal karyotype ascertained by a mosaic trisomy 20 pregnancy. Copyright © 2001 John Wiley & Sons, Ltd.  相似文献   
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