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Environmental Science and Pollution Research - A study was carried out to determine the activities of radionuclides (137Cs, 40K, 226Ra, 214Bi, 214Pb, and 210Pb) and the levels of biochemical...  相似文献   
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Tuberous sclerosis (TSC) is a frequent autosomal-dominant condition (affecting 1 in 6000 individuals) caused by various mutations in either the hamartin (TSC1) or the tuberin gene (TSC2). This allelic and non-allelic heterogeneity makes genetic counseling and prenatal diagnosis difficult, especially as a significant proportion of TSC cases are due to de novo mutations. For this reason the identification of the disease causing mutation is mandatory for accurate counseling, yet current mutation detection methods such as single-strand conformation polymorphism (SSCP) or denaturing gradient gel electrophoresis (DGGE) are labor intensive with limited detection efficiency. Denaturing high-performance liquid chromatography (DHPLC) is a high-throughput, semi-automated mutation detection system with a reported mutation detection rate close to 100% for PCR fragments of up to 800 bp. We used a recently described DHPLC assay allowing the efficient detection of mutations in TSC1 to analyze the DNA extracted from a chorion villus sample in order to perform a prenatal diagnosis for TSC. The fetus was found not to have inherited the deleterious mutation and the DHPLC diagnosis was confirmed by haplotype analysis. This represents the first DHPLC-based prenatal diagnosis of a genetic disease. Copyright © 2001 John Wiley & Sons, Ltd.  相似文献   
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With the use of cost-effective natural materials, biosorption is considered as an ecological tool that is applied worldwide for the remediation of pollution. In this study, we proposed Lemna gibba biomass (LGB), a lignocellulosic sorbent material, for the removal of two textile dyes, Direct Red 89 (DR-89) and Reactive Green 12 (RG-12). These azo dyes commonly used in dying operations of natural and synthetic fibres are the most important pollutants produced in textile industry effluents. For this purpose, batch biosorption experiments were carried out to assess the efficacy of LGB on dye treatment by evaluating the effect of contact time, biomass dosage, and initial dye concentration. The results indicated that the bioremoval efficiency of 5 mg?L?1 DR-89 and RG-12 reached approximately 100 % after 20 min of the exposure time; however, the maximum biosorption of 50 mg?L?1 DR-89 and 15 mg?L?1 RG-12 was determined to be about 60 and 47 %, respectively. Fourier transform infrared spectroscopy used to explain the sorption mechanism showed that the functional groups of carboxylic acid and hydroxyl played a major role in the retention of these pollutants on the biomass surface. The modelling results using Freundlich, Langmuir, Temkin, Elovich, and Dubini Radushkevich (D-R) isotherms demonstrated that the DR-89 biosorption process was better described with the Langmuir theory (R 2?=?0.992) while the RG-12 biosorption process fitted well by the D-R isotherm equation (R 2?=?0.988). The maximum biosorption capacity was found to be 20.0 and 115.5 mg?g?1 for DR-89 and RG-12, respectively, showing a higher ability of duckweed biomass for the bioremoval of the green dye. The thermodynamic study showed that the dye biosorption was a spontaneous and endothermic process. The efficacy of using duckweed biomass for the bioremoval of the two dyes was limited to concentrations ≤50 mg?L?1, indicating that L. gibba biomass may be suitable in the refining step of textile effluent treatment.  相似文献   
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A large scale study of trace metal contamination (Hg, Cd, Pb and Ni) by means of caged mussels Mytilus galloprovincialis was undertaken along the coastal waters of the Western Mediterranean Sea within the context of the MYTILOS project. Individual mussels from an homogeneous population (shell size 50 ± 5 mm) obtained from an aquaculture farm were consecutively caged and deployed at 123 sites located in the Alborán, North-Western, South-Western and Tyrrhenian sub-basins for 12 weeks (April-July) in 2004, 2005 and 2006. After cage recoveries, both the metal content in the whole mussel tissue and the allometric parameters were measured. Statistical analysis of the datasets showed significant differences in concentrations between sub-basins for some metals and mussel condition index (CI). Linear regression models coupled to the CI were revisited for the data adjustment of certain trace metals (Hg, Cd and Ni), and four level categories were statistically derived to facilitate interregional comparison. Seawater masses surrounding coastal areas impacted by run-off from land mineralised coasts and industrial activities displayed the highest concentration ranges (Hg: 0.15-0.31 mg kg(-1) dw; Cd: 1.97-2.11; Ni: 2.18-3.20 and Pb: 3.1-3.8), although the levels obtained in most of the sites fitted within moderate or low categories, and they could be considered as baseline concentrations. However, few sites considered little-influenced by human activities, at present, showed high concentrations of Cd, Ni and Pb, which constitute new areas of concern. Overall, the use of active biomonitoring (ABM) approach allowed to investigate trace metal contamination in order to support policy makers in establishing regional strategies (particularly, with regard to the European Marine Strategy Directive).  相似文献   
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This study aims to monitor the arid Algerian High Plateaus, a key region for pastoral activities which has suffered harsh and widespread degradation from the eighties. This area is not sufficiently known by the international scientific community. For this purpose, we considered phytoecological inventories and thematic maps that have been carried out during 30 years. Available data for the study are vegetation maps derived from aerial photographs (1975-1978) and from satellite imagery (2006). The parameters considered include vegetation, flora, and soil surface properties. The study area is part of the ROSELT/OSS (ROSELT: Réseau d'Observatoires de Surveillance Ecologique à Long Terme (Long Term Ecological Monitoring Observatories Network); OSS: Observatory of the Sahara and the Sahel) network observatory (OSS 2008). To assess land degradation, we used landscape ecology parameters. These include the number and surface area of vegetation units, synthesized by the large patch index and the Shannon landscape diversity index. All parameters reflect an increase in landscape heterogeneity. The largest decline is observed for Stipa tenacissima vegetation units constituting 2/3 of the landscape in 1978 and occupied just 1/10 in 2006. Vegetation units linked to degradation, such those dominated by Salsola vermiculata, inexistent in 1978, now dominate the steppe. Another result of the ongoing landscape degradation on the plateaus between 1975 and 2006 is the decrease of vegetation cover. In 1978, 1/3 of rangelands only had low vegetation covers, inferior to 15%. Presently 9/10 present the same class cover. This can be explained by severe spells of drought combined by an exponential rise of livestock during the last 30 years. This has in turn greatly undermined the fodder potential of the steppe. Results suggest that the "greening-up" described by several authors in the Sahel over the last 40 years is not observed in the Algerian, nor in the North African steppes. On the contrary, the desertification is still ongoing and the threshold of irreversibility seems to be imminent.  相似文献   
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