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51.
Respiratory chain deficiency (RCD) is responsible for a clinically heterogeneous group of early-onset untreatable disorders. Enzymological prenatal diagnosis (PD) can only be offered to a fraction of families. Moreover, due to the two-fold genetic origin of the respiratory chain (nuclear and mitochondrial DNA) and owing to the large number of nuclear genes involved in the respiratory chain assembly, maintenance and functioning, the identification of the disease causing gene in a given family remains challenging. Here, we report on PD of RCD by direct screening of NDUFV1, SDH-Fp, SCO1 and SURF1 mutations in five unrelated families with complex I, II and IV deficiency, respectively. The identification of the disease-causing gene in a given family with RCD is a major issue to provide both adequate genetic counselling and early, reliable PD. Copyright © 2001 John Wiley & Sons, Ltd.  相似文献   
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Environmental Science and Pollution Research - In this study, the chemical compositions of the ethanolic and aqueous extracts of the leaves of Origanum syriacum and Salvia lanigera were identified...  相似文献   
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Diflubenzuron (DFB) is an insecticide commonly used to control forest pests. The objectives of this study were to assess the effect of diflubenzuron on the development of Pinus pinaster seedlings and Pisolithus tinctorius under laboratory conditions and to study the possible protective role of this ectomycorrhizal fungus against the effects of diflubenzuron. In vitro experiments revealed that diflubenzuron inhibited fungal growth at all tested concentrations (0.01, 0.1, 1, 10 and 100 mg L?1). Root growth was inhibited at the two highest diflubenzuron concentrations. The activity of the antioxidant defence system of non-inoculated P. pinaster increased at 1 and 10 mg DFB kg?1 substrate, and inoculation increased the threshold to the highest concentration. The protective role of the ectomycorrhizal fungus was seen in the increase of CAT activity. This study revealed that despite causing no mortality, diflubenzuron has the ability to cause sub-lethal damage to P. pinaster. The disproportionate use of this insecticide may lead to higher amounts of its residues in soil and the biosphere, endangering trees, fungi and their symbiosis.  相似文献   
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Two measurement campaigns of volatile organic compounds (VOC) were carried out in the industrial city of Dunkerque, using Radiello passive samplers during winter (16–23 January) and summer (6–13 June) 2007. 174 compounds were identified belonging to six chemical families. Classifying sampling sites with similar chemical profiles by hierarchical ascending classification resulted in 4 groups that reflected the influence of the main industrial and urban sources of pollution. Also, the BTEX (Benzene, Toluene, Ethylbenzene and Xylenes) quantification allowed us to map their levels of concentration. Benzene and toluene (BT) showed high concentrations in Northern Dunkerque reflecting the influence of two industrial plants. Differences among spatial distributions of the BT concentrations over contrasted meteorological conditions were also observed. An atypical ratio of T/B in the summer samples led us to investigate the BTEX origins shedding light on the contribution of pollutants transported across various zones of VOC emissions situated in Europe.  相似文献   
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The concept of a knowledge-based approach to policy making (also referred to as 'evidence-based policy making' or 'science meets policy') has been around for 10 years, and is widely 'signed up to' by Governments. This paper examines the theory and the practice at national government (using the UK as a case study) and European levels, looking at how the knowledge-based approach has been applied in waste and resources management. There is general agreement that a knowledge-(or evidence-) based approach to policy making is a 'good thing'; however putting the concept into practice has proven challenging and is still evolving. The linkages between researchers and policy makers need to be further strengthened, as does the 'demand' for evidence from policy; requiring policy specialists to articulate their requirements for evidence sufficiently well in advance, and to do so routinely, is still an area of weakness. Using a model developed by the UK's Department for Environment, Food and Rural Affairs (Defra), we examine in detail some of the implications of changing the question from 'is this good research on waste and resources issues?' to 'is this good evidence for waste and resources policy?'. The paper also provides recommendations for further work required to achieve this at a European level, and for priority areas where international co-ordination of waste and resources research could add most value to policy.  相似文献   
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Modeling studies have shown that the Fenton reaction of iron(II) with H2O2 can contribute, in a significant amount, to OH radicals production in cloud droplets. However, the destruction mechanism of hydrogen peroxide by iron(II) is still uncertain. Two reaction pathways for the first step of Fenton chemistry have been advanced: a radical pathway which considers an OH radical production and a non-radical pathway considering ferryl ion production. The aim of this work is to evaluate the impact of these two possible reaction pathways for Fenton chemistry on the iron redox cycle in cloud droplets. For this purpose, the numerical model of multiphase chemistry M2C2 has been applied to a rural chemical scenario representative of continental conditions. This study highlights that the iron redox cycling is driven by Fenton reaction whatever Fenton mechanism is considered. The ferryl ion chemistry becomes significant in the iron redox cycling when this species is considered as an active intermediate in Fenton chemistry and under night time conditions the iron redox chemistry is controlled by the ferryl ion reactivity. The partitioning of iron between its two main oxidation states (+II and +III) in cloud droplets, which is the indicator of the iron oxido-reduction potential, does not change significantly between the two cases. However, for the non-radical case, the ferryl ion concentration is up to four orders of magnitude higher than the OH concentration highlighting its potential role in oxidative capacity of cloud droplets.  相似文献   
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