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Non-invasive prenatal screening (NIPS) has revolutionized the approach to prenatal fetal aneuploidy screening. Many commercial providers now offer analyses for sub-chromosomal copy number variations (CNVs). Here, we review the use of NIPS in the context of screening for microdeletions and microduplications, issues surrounding the choice of disorders tested for, and the advantages and disadvantages associated with the inclusion of microdeletions to current NIPS. Several studies have claimed benefits; however, we suggest that microdeletions have not demonstrated a low enough false positive rate to be deemed practical or ethically acceptable, especially considering their low positive predictive values. Because a positive NIPS result should be confirmed using diagnostic techniques, and false positive rates are as high as 90% for some microdeletions, diagnostic testing seems preferable when the goal is to maximize the detection of microdeletion or microduplication syndromes.  相似文献   
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Human-induced habitat loss and degradation are major threats to wetland species as reflected in the fact that wetlands have declined by more than 50% in Europe and North America during the last century. Both current and historic land-use patterns are likely to be significant determinants of wetland species' distributions; however their relative importance is often unknown. We studied the importance of local (study pond) and landscape (current and 18th-century landscape) characteristics in explaining the occurrence and species richness of amphibians (Rana arvalis, Bufo bufo, and Triturus vulgaris) on the Swedish island of Gotland, where more than 40% of wetlands have been lost since the 18th century. Current local habitat characteristics were the strongest determinants of occurrence for all study species. Additionally, species occurrence was related to current and historic landscape characteristics, which generally explained equal amounts of the variation in species-occurrence data. The proportions of both current and historic arable land were negative determinants of amphibian occurrence and species richness, indicating that agricultural land use may have an overall negative impact on amphibians, and that amphibians may occur less frequently in areas with a long agricultural history. Likewise, historic forest area was positively related to B. bufo occurrence and species richness, whereas current forests had no significant effects, suggesting that there may be a lag in the response of amphibians to agriculture-mediated habitat loss. Our results suggest that historic land-use patterns may influence current amphibian populations and that inclusion of historic land-use information could be a valuable tool in future studies on amphibian-habitat relations.  相似文献   
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The cyanobacterial cytotoxin cylindrospermopsin (CYN) has become increasingly common in fresh waters worldwide. It was originally isolated from Cylindrospermopsis raciborskii in Australia; however, in European waters, its occurrence is associated with other cyanobacterial species belonging to the genera Aphanizomenon and Anabaena. Moreover, cylindrospermopsin-producing strains of widely distributed C. raciborskii have not yet been observed in European waters. The aims of this work were to assess the occurrence of CYN in lakes of western Poland and to identify the CYN producers. The ELISA tests, high-performance liquid chromatography (HPLC)-DAD, and HPLC-mass spectrometry (MS)/MS were conducted to assess the occurrence of CYN in 36 lakes. The cyrJ, cyrA, and pks genes were amplified to identify toxigenic genotypes of cyanobacteria that are capable of producing CYN. The toxicity and toxigenicity of the C. raciborskii and Aphanizomenon gracile strains isolated from the studied lakes were examined. Overall, CYN was detected in 13 lakes using HPLC-MS/MS, and its concentrations varied from trace levels to 3.0 μg?L?1. CYN was widely observed in lakes of western Poland during the whole summer under different environmental conditions. Mineral forms of nutrients and temperature were related to CYN production. The molecular studies confirmed the presence of toxigenic cyanobacterial populations in all of the samples where CYN was detected. The toxicity and toxigenicity analyses of isolated cyanobacteria strains revealed that A. gracile was the major producer of CYN.  相似文献   
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Environmental Science and Pollution Research - Arsenic is among the major drinking water contaminants affecting populations in many countries because it causes serious health problems on long-term...  相似文献   
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Pneumatic waste collection systems are becoming increasingly popular in new urban residential areas, and an attractive alternative to conventional vehicle-operated municipal solid waste (MSW) collection also in ready-built urban areas. How well pneumatic systems perform in ready-built areas is, however, an unexplored topic. In this paper, we analyze how a hypothetical stationary pneumatic waste collection system compares economically to a traditional vehicle-operated door-to-door collection system in an existing, densely populated urban area. Both pneumatic and door-to-door collection systems face disadvantages in such areas. While buildings and fixed city infrastructure increase the installation costs of a pneumatic system in existing residential areas, the limited space for waste transportation vehicles and containers cause problems for vehicle-operated waste collection systems. The method used for analyzing the cost effects of the compared waste collection systems in our case study takes into account also monetized environmental effects of both waste collection systems. As a result, we find that the door-to-door collection system is economically almost six times more superior. The dominant cost factor in the analysis is the large investment cost of the pneumatic system. The economic value of land is an important variable, as it is able to reverse the results, if the value of land saved with a pneumatic system is sufficiently high.  相似文献   
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Waste collection is one of the life cycle phases that influence the environmental sustainability of waste management. Pneumatic waste collection systems represent a new way of arranging waste collection in densely populated urban areas. However, limited information is available on the environmental impacts of this system. In this study, we compare the environmental sustainability of conventional door-to-door waste collection with its hypothetical pneumatic alternative. Furthermore, we analyse whether the size of the hypothetical pneumatic system, or the number of waste fractions included, have an impact on the results. Environmental loads are calculated for a hypothetical pneumatic waste collection system modelled on an existing dense urban area in Helsinki, Finland, and the results are compared to those of the prevailing, container-based, door-to-door waste collection system. The evaluation method used is the life-cycle inventory (LCI). In this study, we report the atmospheric emissions of greenhouse gases (GHG), SO(2) and NO(x). The results indicate that replacing the prevailing system with stationary pneumatic waste collection in an existing urban infrastructure would increase total air emissions. Locally, in the waste collection area, emissions would nonetheless diminish, as collection traffic decreases. While the electricity consumption of the hypothetical pneumatic system and the origin of electricity have a significant bearing on the results, emissions due to manufacturing the system's components prove decisive.  相似文献   
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Maize (Zea mays L.) production in the smallholder farming areas of Zimbabwe is based on both organic and mineral nutrient sources. A study was conducted to determine the effect of composted cattle manure, mineral N fertilizer, and their combinations on NO3 concentrations in leachate leaving the root zone and to establish N fertilization rates that minimize leaching. Maize was grown for three seasons (1996-1997, 1997-1998, and 1998-1999) in field lysimeters repacked with a coarse-grained sandy soil (Typic Kandiustalf). Leachate volumes ranged from 480 to 509 mm yr(-1) (1395 mm rainfall) in 1996-1997, 296 to 335 mm yr(-1) (840 mm rainfall) in 1997-1998, and 606 to 635 mm yr(-1) (1387 mm rainfall) in 1998-1999. Mineral N fertilizer, especially the high rate (120 kg N ha(-1)), and manure plus mineral N fertilizer combinations resulted in high NO3 leachate concentrations (up to 34 mg N L(-1)) and NO3 losses (up to 56 kg N ha(-1) yr(-1)) in 1996-1997, which represent both environmental and economic concerns. Although the leaching losses were relatively small in the other seasons, they are still of great significance in African smallholder farming where fertilizer is unaffordable for most farmers. Nitrate leaching from sole manure treatments was relatively low (average of less than 20 kg N ha(-1) yr(-1)), whereas the crop uptake efficiency of mineral N fertilizer was enhanced by up to 26% when manure and mineral N fertilizer were applied in combination. The low manure (12.5 Mg ha(-1)) plus 60 kg N ha(-1) fertilizer treatment was best in terms of maintaining dry matter yield and minimizing N leaching losses.  相似文献   
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