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排序方式: 共有228条查询结果,搜索用时 90 毫秒
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Jeanne Amiel Nadine Gigarel Alexandra Benacki Paule Benit Isabelle Valnot Béatrice Parfait Jurgen-Christoph Von Kleist-Retzow Valérie Raclin Smaïl Hadj-Rabia Yves Dumez Pierre Rustin Jean-Paul Bonnefont Arnold Munnich Agnès Rötig 《黑龙江环境通报》2001,21(7):602-604
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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OBJECTIVES: Emissions of lead into the environment (and thus its environmental concentrations) have decreased in recent years. We sought to estimate the overall lead exposure of children aged 6 months to 6 years (the population group most exposed and most sensitive to lead) in France through the various media (air, food, water, soils, and dust) and the respective contributions of each medium to the total dose. We have focused on the general population, leaving aside specific risk factors such as deteriorated lead paints. METHODS: We used the most recent French intake data for food and water, and a daily ingested quantity selected from the literature for soils and dust. Contamination data came from the first total diet study of contaminant levels in France (2000-2001), from regulatory testing of tap water (2004), a literature review of lead in urban soils, and a pilot study (2005) of lead in dust. Air quality monitoring measurements showed that the contribution of air could now be safely ignored. Weekly exposure doses were estimated with Monte Carlo simulations. RESULTS: Median weekly exposure dose was 7.5 microg/kg bw.week for children aged 6 months to 3 years and 4.7 for those aged from 3-6 years. 95th percentiles were 13.5 and 8.7 microg/kg bw.week. Exposure came mainly from food. The principal uncertainties are associated with quantification limits in food and water, representativeness and traceability of tap water samples, and absence of recent data about urban soil contamination. CONCLUSIONS: These results differ quite notably from earlier estimates and highlight the need, especially for policy-making purposes, to update exposure measurements for this metal. 相似文献
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Hydrogeochemistry and statistical analysis applied to understand fluoride provenance in the Guarani Aquifer System, Southern Brazil 总被引:1,自引:0,他引:1
Maria Paula C. Marimon Ari Roisenberg Alexandra V. Suhogusoff Antonio Pedro Viero 《Environmental geochemistry and health》2013,35(3):391-403
High fluoride concentrations (up to 11 mg/L) have been reported in the groundwater of the Guarani Aquifer System (Santa Maria Formation) in the central region of the state of Rio Grande do Sul, Southern Brazil. In this area, dental fluorosis is an endemic disease. This paper presents the geochemical data and the combination of statistical analysis (Principal components and cluster analyses) and geochemical modeling to achieve the hydrogeochemistry of the groundwater and discusses the possible fluoride origin. The groundwater from the Santa Maria Formation is comprised of four different geochemical groups. The first group corresponds to a sodium chloride groundwater which evolves to sodium bicarbonate, the second one, both containing fluoride anomalies. The third group is represented by calcium bicarbonate groundwater, and in the fourth, magnesium is the distinctive parameter. The statistical and geochemical analyses supported by isotopic measurements indicated that groundwater may have originated from mixtures of deeper aquifers and the fluoride concentrations could be derived from rock/water interactions (e.g., desorption from clay minerals). 相似文献
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Anne Pinton Julia Boubnova François Becmeur Pierre Kuhn Marie-Victoire Senat Julien Stirnemann Marianne Capelle Jonathan Rosenblatt Jérôme Massardier Pascal Vaast Gwenaelle Le Bouar Amélie Desrumaux Laure Connant Laetitia Begue Benoit Parmentier Franck Perrotin Alain Diguet Guillaume Benoist Charles Muszynski Aurélien Scalabre Norbert Winer Jean-Luc Michel Florence Casagrandre-Magne Jean-Marie Jouannic Denis Gallot Perrine Coste Mazeau Emmanuel Sapin Alexis Maatouk Anne-Hélène Saliou Loïc Sentilhes Florence Biquard Nicolas Mottet Romain Favre Alexandra Benachi Nicolas Sananès 《黑龙江环境通报》2020,40(8):949-957
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