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2.
The presence of maternal cells in fetal samples constitutes a serious potential source for prenatal misdiagnosis. Here we present our approach for detecting maternal cell contamination (MCC) at prenatal diagnosis for eight monogenic disorders (autosomal recessive: β-thalassaemia, sickle-cell anaemia, cystic fibrosis, prelingual deafness; autosomal dominant: achondroplasia, Huntington disease, myotonic dystrophy, neurofibromatosis type I; X-linked: spinobulbar muscular atrophy). Our aim was to apply a simple and low-cost approach, which would easily and accurately provide information on the fetal tissue MCC status. MCC testing was applied to cases of recessive inheritance where the primary mutation screening of the fetus revealed the presence of the maternal mutation, to cases concerning dominant inheritance and to cases of multiple gestation. The potential presence of maternal cells was determined by the amplification of the 3′-HVR/APO B, D1S80, THO1 and VNTRI of vWf polymorphic loci, which have previously demonstrated high heterozygosity in Caucasians. Among 135 prenatal diagnoses, 44 finally needed to be tested for MCC (32.6%). MCC was detected in four cases, where DNA was isolated directly from chorionic villi samples (CVS), and in one case with DNA isolated directly from amniotic fluid (AF). In almost 90% of cases a simple test of one polymorphic locus provided sufficient information about MCC. The choice of the appropriate locus is therefore essential, while the simultaneous screening of both parents provides the means for distinguishing non-informative sites about MCC. Copyright © 2002 John Wiley & Sons, Ltd.  相似文献   
3.
The feasibility of including sustainability in LCA for product development   总被引:1,自引:0,他引:1  
The feasibility of combining the concept of sustainability principles and the methodology of Life Cycle Assessment (LCA) is examined. The goal is to achieve an operational tool that incorporates sustainability in product development and strategic planning. While the method outlined has the structure of LCA, it emphasises aspects and parameters often omitted from traditional LCA. The analysis and results can be either qualitative or semi-quantitative. Although a qualitative analysis is less time consuming, it can still highlight the important issues. Qualitative information, which is easily lost in a quantitative analysis, can be emphasised. One of the conclusions is that the method is well suited for screening analysis.  相似文献   
4.
本文研究了从麦夸里岛上毛皮海豹(Arctocephalus spp.)粪便中发现的164个塑料颗粒(平均长度为4.1mm).其中41个塑料颗粒的电子显微照片显示,从其形状来看,没有一个可被确定为塑料颗柱原料--通常这样的颗粒是圆柱形和球形的.而海豹粪便中的164个塑料颗粒全都是7种颜色的角形颗粒(原料颗粒通常是透明的或白色的),并可被分为两类①沿晶体线碎裂的和可能是紫外线分解的;②被磨蚀成带有圆角的不规则形状(擦痕明显可见).白色、棕色、绿色、黄色以及蓝色是最常见的颜色.在成分上,它们来自于5种聚合物群聚乙烯93%;聚丙烯4%;多(1-CI-1-聚丁二烯)聚氯丁二烯2%;三聚氰胺-尿素(酚)(甲醛)树脂0.5%以及纤维素(绳纤维)0.5%.较大的群是漂浮的,比重小于海水.这些小塑料是由较大颗粒(碎片)分解而成的.它们看来是被水冲上岸的并在卵石海滩上受到研磨的塑料用品分解而成的.大多数颗粒(70%)肯定是由于经过不断的磨蚀而最后形成今天的形状.据假设,塑料颗粒被冲到海洋中,然后按其大小有选择地被一种中上层鱼--Electrona subaspera--吃掉,而这种鱼后来又被毛皮海豹吃掉.因此,这些塑料颗粒是由这种鱼和海豹在其正常的摄食过程中聚集的.  相似文献   
5.
引言 墨西哥城大都市区(MCMA)位于被称作"墨西哥谷(Valle deMexico)"的天然围合的盆地里,海拔2240m.它下辖联邦区和墨西哥州的34个自治市.墨西哥城是墨西哥的首都,位于联邦区(DistritoFederal,DF),四面环山,海拔高度超过5000m.墨西哥州是墨西哥人口最稠密的地区(据报道有1300万居民),人口仅次于它的是墨西哥城,大约有860万人[1].  相似文献   
6.
Weathering rates of base cations are crucial in critical load calculations and assessments of sustainable forestry. The weathering rate on a single site with detailed geological data can be modelled using the PROFILE model. For environmental assessments on a regional scale, the weathering rates for sites are scaled into regional maps. The step from sites to regional level requires focus on the spatial variation of weathering rates. In this paper, a method is presented by which weathering rates are calculated for 25589 Swedish sites with total elemental analysis for the soil. Based on a part of the results, a methodology for creating area covering maps by geostatistical analysis and kriging is described. A normative reconstruction model was used to transform total elemental analysis to mineralogy. Information from the Swedish Forest Inventory database and other databases were used to derive texture and other important information for the sites, e.g. climate, deposition and vegetation data. The calculated weathering rates show a regional pattern that indicates possibilities for interpolation of data in large parts of Sweden. Geostatistical analysis of an area in southern Sweden shows different properties for different base cations. Kriging was performed for potassium to demonstrate the method. It was concluded that different base cations and different regions have to be analysed separately, in order to optimise the kriging method.  相似文献   
7.
Methane oxidation in slurry storage surface crusts   总被引:1,自引:0,他引:1  
Livestock manure is a significant source of atmospheric methane (CH4), especially during liquid storage. In liquid manure (slurry) storages a surface crust may form naturally, or an artificial surface crust can be established. We investigated whether there is a potential for CH4 oxidation in this environment. Surface crust materials were sampled from experimental storages with cattle slurry (with natural crust) or anaerobically digested cattle slurry (with straw layer) that had been stored with or without a wooden cover. Extracts of surface crust material were incubated with 5.6% CH4 in the headspace, and methanotrophic activity was demonstrated in all four treatments following a 4- to 10-d lag phase. Subsequent incubation of field-moist surface crust material with 350 microL L(-1) CH4 also showed CH4 oxidation, indicating a potential for CH4 removal under practical storage conditions. There was no CH4 oxidation activity during incubation of autoclaved samples. Methane oxidation rates were 0.1 to 0.5 mg kg(-1) organic matter (OM) h(-1), which is comparable with the activity in wetlands and rice paddies. Partial drying increased CH4 oxidation to 0.2 to 1.4 mg kg(-1) OM h(-1), probably as a result of improved diffusivity within the surface crust. Rewetting reversed the stimulation of methanotrophic activity in some treatments, but not in others, possibly due to a decline in CH4 production in anaerobic volumes, or to growth of methanotrophs during incubation. This study presents direct evidence for methanotrophic activity in slurry storages. Measures to ensure crust formation with or without a solid cover appear to be a cost-effective greenhouse gas mitigation option.  相似文献   
8.
The only documentation on the building downwash algorithm in AERMOD (American Meteorological Society/U.S. Environmental Protection Agency Regulatory Model), referred to as PRIME (Plume Rise Model Enhancements), is found in the 2000 A&WMA journal article by Schulman, Strimaitis and Scire. Recent field and wind tunnel studies have shown that AERMOD can overpredict concentrations by factors of 2 to 8 for certain building configurations. While a wind tunnel equivalent building dimension study (EBD) can be conducted to approximately correct the overprediction bias, past field and wind tunnel studies indicate that there are notable flaws in the PRIME building downwash theory. A detailed review of the theory supported by CFD (Computational Fluid Dynamics) and wind tunnel simulations of flow over simple rectangular buildings revealed the following serious theoretical flaws: enhanced turbulence in the building wake starting at the wrong longitudinal location; constant enhanced turbulence extending up to the wake height; constant initial enhanced turbulence in the building wake (does not vary with roughness or stability); discontinuities in the streamline calculations; and no method to account for streamlined or porous structures.

Implications: This paper documents theoretical and other problems in PRIME along with CFD simulations and wind tunnel observations that support these findings. Although AERMOD/PRIME may provide accurate and unbiased estimates (within a factor of 2) for some building configurations, a major review and update is needed so that accurate estimates can be obtained for other building configurations where significant overpredictions or underpredictions are common due to downwash effects. This will ensure that regulatory evaluations subject to dispersion modeling requirements can be based on an accurate model. Thus, it is imperative that the downwash theory in PRIME is corrected to improve model performance and ensure that the model better represents reality.  相似文献   

9.
• Nanowire-assisted LEEFT is applied for water disinfection with low voltages. • LEEFT inactivates bacteria by disrupting cell membrane through electroporation. • Multiple electrodes and device configurations have been developed for LEEFT. • The LEEFT is low-cost, highly efficient, and produces no DBPs. • The LEEFT can potentially be applicable for water disinfection at all scales. Water disinfection is a critical step in water and wastewater treatment. The most widely used chlorination suffers from the formation of carcinogenic disinfection by-products (DBPs) while alternative methods (e.g., UV, O3, and membrane filtration) are limited by microbial regrowth, no residual disinfectant, and high operation cost. Here, a nanowire-enabled disinfection method, locally enhanced electric field treatment (LEEFT), is introduced with advantages of no chemical addition, no DBP formation, low energy consumption, and efficient microbial inactivation. Attributed to the lightning rod effect, the electric field near the tip area of the nanowires on the electrode is significantly enhanced to inactivate microbes, even though a small external voltage (usually<5 V) is applied. In this review, after emphasizing the significance of water disinfection, the theory of the LEEFT is explained. Subsequently, the recent development of the LEEFT technology on electrode materials and device configurations are summarized. The disinfection performance is analyzed, with respect to the operating parameters, universality against different microorganisms, electrode durability, and energy consumption. The studies on the inactivation mechanisms during the LEEFT are also reviewed. Lastly, the challenges and future research of LEEFT disinfection are discussed.  相似文献   
10.
In the scientific literature, few valuations of biodiversity and ecosystem services following the impacts of toxicity are available, hampered by the lack of ecotoxicological documentation. Here, tributyltin is used to conduct a contingent valuation study as well as cost–benefit analysis (CBA) of measures for improving the environmental status in Swedish coastal waters of the Baltic Sea. Benefits considering different dimensions when assessing environmental status are highlighted and a quantitative environmental assessment framework based on available technology, ecological conditions, and economic valuation methodology is developed. Two scenarios are used in the valuation study: (a) achieving good environmental status by 2020 in accordance with EU legislation (USD 119 household−1 year−1) and (b) achieving visible improvements by 2100 due to natural degradation (USD 108 household−1 year−1) during 8 years. The later scenario was used to illustrate an application of the assessment framework. The CBA results indicate that both scenarios might generate a welfare improvement.

Electronic supplementary material

The online version of this article (doi:10.1007/s13280-015-0682-4) contains supplementary material, which is available to authorized users.  相似文献   
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