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X-linked hydrocephalus, HSAS (hydrocephalus due to stenosis of aqueduct of Sylvius), MASA (mental retardation, aphasia, shuffling gait, and adducted thumbs), and CRASH (corpus callosum hypoplasia, retardation, adducted thumbs, spastic paraplegia, and hydrocephalus) syndromes are allelic disorders. X-linked hydrocephalus and associated phenotypes are due to mutations in the L1CAM gene, which has been identified as a coding neural cell adhesion molecule. We report two cases of L1 spectrum disorders within the same family. The first case was diagnosed by ultrasonographic examination prenatally and the second case was diagnosed postnatally. Both patients and their mothers carry a novel mutation of the L1CAM gene. In this family, nine X-linked hydrocephalus and five female carriers were found in three generations, and molecular genetic analysis was performed to detect the asymptomatic carriers. Copyright © 2005 John Wiley & Sons, Ltd.  相似文献   
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Journal of Material Cycles and Waste Management - Waste generation has been increasing drastically based on the world’s population and economic growth. This has significantly affected human...  相似文献   
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Although fish is widely consumed by humans for its nutritional properties, accumulation of heavy metals can pose serious health hazards. Widespread common carp Cyprinus carpio is cultured worldwide and represents an economically important species for fisheries in several countries. These include Turkey, where C. carpio often makes for a large part of the sales of the locally marketed fish and also for a traditional dish. This study provides a review of bioaccumulation of metals in tissues of C. carpio from water bodies of Anatolia and also includes reference to worldwide studies. From 42 water bodies across the region, 27 metals in total were studied, of which Cd, Cr, Cu, Fe, Mn, Ni, Pb and Zn were the most widely analysed, mainly in the muscle, liver and gill tissues. Amongst the potentially toxic metals, Cd, Cr and Pb occurred in several water bodies at concentrations not only above maximum allowed limits but also higher relative to other water bodies worldwide, even though As, Hg and Ni were also sometimes present at potentially hazardous concentrations. The essential metals Cu, Fe, Mn, Se and Zn were detected at various concentrations, with the latter two occasionally above limit. All water bodies flagged as having especially critical (i.e. above limit) concentrations of toxic metals supported C. carpio fisheries from highly populated regions, raising concern about food safety and calling for preventative measures. Given the significantly lower bioaccumulation levels in the muscle relative to the liver and gill tissues, it is suggested that consumption of C. carpio as fillets may be safer than after processing into e.g. meat balls and sausages. The limits of 1.0 μg/g for Cr and 1.15 μg/g for Se, currently lacking from the Turkish food safety legislation, are proposed, and it is suggested that a similar meta-analytical approach as adopted in this study may benefit other countries where C. carpio represents an important fisheries resource.  相似文献   
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A decision support system has been developed for urban air quality management in the metropolitan area of Istanbul. The system is based on CALMET/CALPUFF dispersion modeling system, digital maps, and related databases to estimate the emissions and spatial distribution of air pollutants with the help of a GIS software. The system estimates ambient air pollution levels at high temporal and spatial resolutions and enables mapping of emissions and air quality levels. Mapping and scenario results can be compared with air quality limits. Impact assessment of air pollution abatement measures can also be carried out.  相似文献   
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The surface water quality of the Euphrates river basin in Turkey are evaluated by using the multivariate statistical techniques known as factor analysis (FA) and multidimensional scaling (MDS) analysis. When FA was applied to the water quality data obtained from the 15 different surface water quality monitoring stations, two factors were identified, which were responsible from the 86.02% of the total variance of the water quality in the Euphrates river basin. The first factor called the urban land use factor explained 44.20% of the total variance and the second factor called the agricultural use factor explained 41.81% of the total variance. MDS technique showed that electrical conductivity (EC), percent sodium (Na%) and total salt are the most important variables causing difference in the water quality analysis.  相似文献   
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Outdoor school environments are sites for play and physical activity for many children, and shortcomings within these environments are considered significant factors that contribute to children's inactive lifestyles and high levels of childhood obesity. This study explores the associations between the physical characteristics of schoolyards and the physical activity of third and fourth year students in five Turkish primary schools. Data were collected through multiple methods, including behavior mapping of student activities during recess, physical assessments of schoolyards, and interviews with students, teachers and administrations. The findings show similarities in the landscape features and physical qualities of schoolyards, particularly in the types of play and activities in which students engage. Results indicated that active students who walk to and from schools have lower body mass index (BMI) values than passive students, and students in schools with larger yards have lower BMI values. Most of the students prefer spacious and vegetated yards. A major concern is the crowdedness of the yards during recess that limit children's activity. Schoolyards with advanced landscape features are preferred more, and this in turn affects students’ positive satisfaction. Outdoor school environments have a correlation to health outcomes and should be designed to promote more activity. Improving the physical and landscape qualities of the public schoolyards should be the primary concern of the designers in order to increase awareness of natural environment and more important, increase the health of children.  相似文献   
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Demirak A  Yilmaz F  Tuna AL  Ozdemir N 《Chemosphere》2006,63(9):1451-1458
Concentrations of heavy metals (Cd, Cr, Cu, Pb and Zn) were measured in water, bottom sediment and tissues (muscle and gills) of Leuciscus cephalus from the Dipsiz stream in the Yatagan basin (southwestern Turkey), the site of a thermal power plant. Results for levels in water were compared with national and international water quality guidelines, as well as literature values were reported for streams and rivers. Comparisons were made of metal concentrations in water and sediment with those in the muscle and gills of L. cephalus caught from the Dipsiz stream. We found that there was metal accumulation in the gills compared to the muscle. Concentrations of Cd, Pb, Zn and Cr in the gills were higher than that in the muscle; however, Cu levels were higher in muscle than that in gills. Concentrations of heavy metals in L. cephalus muscle were below the legal limits for human consumption, although Cr, Pb and Zn levels in the gills were above the limits in the fish taken from the Dipsiz stream. On the other hand, no correlation was found between metal concentrations in water and sediment or between metal concentrations in water and muscle and gills of L. cephalus. A positive correlation was found between concentrations of Cu and Zn in the sediment and in fish tissue, whereas there was no relationship between other metal concentrations in the sediment and water, and muscle and gills of L. cephalus. As with water, Pb and Cd concentrations in particular were higher in sediment than that in background levels. The results show that the pollutants from the thermal power plant may be a source of these elements.  相似文献   
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Dimensional stability and mechanical performance of polypropylene thermoplastic composites filled with sunflower stalk (SS) flour at 30, 40, 50, and 60 wt% contents of the SS flour were investigated. The thickness swelling and water absorption of the specimens increased with increasing SS flour content. The modulus in the flexural and tensile improved with increasing SS flour content while the tensile and flexural strengths of the specimens decreased. The use of maleic anhydride polypropylene (3 wt%) had a positive effect on the dimensional stability and mechanical properties of the polypropylene thermoplastic composites filled with SS flour. The melting temperature of polypropylene decreased with increasing content of the SS flour. The degree of crystallinity of filled polypropylene composites between fibre loading of 0–30 % by weight was higher than that of unfilled polypropylene composites. However, further increment in the filler content decreased the degree of crystallinity. The obtained results showed that SS flour could be potentially suitable raw material in the manufacture of polypropylene composites.  相似文献   
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Sialoblastoma is a rare, locally aggressive, and potentially malignant perinatal salivary tumor that predominantly affects the parotid glands. To date, 29 cases of sialoblastoma have been reported. We report a further case of sialoblastoma diagnosed at 37 weeks of gestation presenting with novel findings that are the premature centromere division and a high level of alpha-fetoprotein. Copyright © 2005 John Wiley & Sons, Ltd.  相似文献   
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