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Pfeiffer syndrome is an autosomal dominant disorder characterized by coronal craniosynostosis, midface hypoplasia, broad thumbs and great toes. On the basis of clinical findings, three subtypes have been delineated. The clinical variability of Pfeiffer syndrome as well as other causes of craniosynostosis can make a prenatal diagnosis based on sonography alone difficult. We describe a fetus in whom sonographic findings (including 3D ultrasound) suggested a Pfeiffer syndrome type II and in which subsequent molecular analysis verified the diagnosis by identifying a de novo mutation in the FGFR2 gene. To the best of our knowledge, this is the first report of a prenatal molecular diagnosis of Pfeiffer syndrome in a patient without family history. Copyright © 2004 John Wiley & Sons, Ltd.  相似文献   
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An encapsulation system designed to give long-lasting effectiveness of the insect growth regulator (IGR) cyromazine (Neporex) against Culex pipiens (Culicidae) mosquito larvae was developed. The main thrust of the research was to develop a simple method for preparing controlled-release formulations by means of an extrusion technique in combination with a supplementary coating and to study the release characteristics and effectiveness of the formulations. A series of formulations were prepared with low-density polyethylene (LDPE 600) for the matrix and with polyurea or one of four types of polyurethane for the coating. The rate of release of the active material from the controlled-release formulations was determined in an in vitro dissolution system. The biological activity of the controlled-release formulations was tested in vivo against C. pipiens larvae.  相似文献   
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Using the GAINS (Greenhouse Gas–Air Pollution Interactions and Synergies) model, we derived Annex I marginal abatement cost curves for the years 2020 and 2030 for three World Energy Outlook baseline scenarios (2007–2009) of the International Energy Agency. These cost curves are presented by country, by greenhouse gas and by sector. They are available for further inter-country comparisons in the GAINS Mitigation Efforts Calculator—a free online tool. We illustrate the influence of the baseline scenario on the shape of mitigation cost curves, and identify key low cost options as well as no-regret priority investment areas for the years 2010–2030. Finally, we show the co-effect of GHG mitigation on the emissions of local air pollutants and argue that these co-benefits offer strong local incentives for mitigation.  相似文献   
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This paper provides an analysis of co-benefits for traditional air pollutants made possible through global climate policies using the Greenhouse Gas and Air Pollution Interactions and Synergies (GAINS) model in the time horizon up to 2050. The impact analysis is based on projections of energy consumption provided by the Prospective Outlook for the Long term Energy System (POLES) model for a scenario without any global greenhouse gas mitigation efforts, and for a 2°C climate policy scenario which assumes internationally coordinated action to mitigate climate change. Outcomes of the analysis are reported globally and for key world regions: the European Union (EU), China, India and the United States. The assessment takes into account current air pollution control legislation in each country. Expenditures on air pollution control under the global climate mitigation regime are reduced in 2050 by 250 billion € when compared to the case without climate measures. Around one third of financial co-benefits estimated world-wide in this study by 2050 occur in China, while an annual cost saving of 35 billion (Euros) € is estimated for the EU if the current air pollution legislation and climate policies are adopted in parallel. Health impacts of air pollution are quantified in terms of loss of life expectancy related to the exposure from anthropogenic emissions of fine particles, as well as in terms of premature mortality due to ground-level ozone. For example in China, current ambient concentrations of particulate matter are responsible for about 40 months-losses in the average life expectancy. In 2050, the climate strategies reduce this indicator by 50 %. Decrease of ozone concentrations estimated for the climate scenario might save nearly 20,000 cases of premature death per year. Similarly significant are reductions of impacts on ecosystems due to acidification and eutrophication.  相似文献   
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