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We present a case of prenatal diagnosis of a de novo (7;19)(q11.2;q13.3) translocation associated with ultrasound features, including enlarged cisterna magna, normal vermis, thick corpus callosum, micrognathia, small and low-set ears and right hyperechogenic kidney. Karyotyping was performed at 24 weeks of gestation. Termination of pregnancy was accepted at the parents' request. Postmortem examination confirmed the prenatal findings, but revealed bilateral Wilms tumors of the kidneys. Parental karyotype was normal. Copyright © 2005 John Wiley & Sons, Ltd.  相似文献   
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In the present investigation, the oxidative metabolism of 14C-labeled metamitron was examined in plant cell cultures of tobacco overexpressing human P450 enzymes CYP1A1 or CYP1A2; special interest was in the aromatic hydroxylation of the herbicide. The oxidative metabolites deaminometamitron (DAM) and 4-hydroxydeaminometamitron (4-HDAM) were found in the untransformed control culture as well as in the transgenic culture. The transgenic cultures, however, exhibited higher turnover rates after 48 h of incubation with 20 microg 14C-metamitron per assay (untransformed: 40%, CYP1A1: 80%, CYP1A2: 100%). Primary metabolite 4-HDAM was partially found in glucosylated form in the transgenic cultures. As minor oxidative metabolites, 6-hydroxyphenyl-3-methoxymethyl-1,2,4-triazine-5(4H)-one and 3-hydroxymethyl-6-phenyl-1,2,4-triazine-5(4H)-one were identified in the transgenic cultures by GC-MS, LC-MS. Additionally, it could be demonstrated that both foreign enzymes (CYP1A1, CYP1A2) also catalyzed the deamination of metamitron. In a large-scale study (up to 400 microg per assay) with the transgenic culture expressing CYP1A2, the high efficiency of this P450 system toward metamitron was demonstrated: turnover of the xenobiotic was almost complete with 400 microg. Since large portions of unglucosylated 4-H-DAM were found, the activity of foreign CYP1A2 apparently exceeded that of endogenous O-glucosyltransferases of the tobacco cell culture. We concluded that in comparison to the nontransformed cell culture, the extent of metabolism was considerably higher in the transgenic cultures. The transgenic cell cultures expressing human CYP1A1 or CYP1A2 are thus suitable tools for the production of large quantities of primary oxidized metabolites of metamitron.  相似文献   
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The term persorption describes the paracellular uptake of particles from the digestive tract. It has been shown that solid, hard microparticles such as starch granules, cellulose particles, fibres and crystals are incorporated from the digestive tract. It is likely that an uptake of soil contaminants may also occur via this mechanism, thereby increasing the health risks of children through soil ingestion. The aim of this study was to evaluate the significance of such soil contaminant absorption via this mechanism using data from the literature. Since no information was available on the persorption of soil particles, studies using other models had to be evaluated. The results of these studies show that a persorption of soil particles must be expected. The maximum persorption rate occurs for diameters of <35 μm which is in the range of diameters of street dust, clay and coarse clay. The persorption of these particles is therefore of significance. Data from the literature, however, does not allow an estimation of the magnitude of persorption of such soil particles. Basically, it is conceivable that a relevant ingestion of less mobile pollutants is possible through their persorption in the gastrointestinal tract. Aside from an increased internal exposure via the persorption of soil particles carrying contaminants, additional health risks may occur through the long-term deposit of such particles, the presence of potential allergens as well as through the embolisation of small vessels.  相似文献   
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In organic philosophy, the concept of “naturalness” is of major importance. According to the organic interpretation of animal welfare, natural living is considered a precondition for accomplishing welfare and the principal aims of organic production include the provision of natural living conditions for animals. However, respective regulations are lacking in organic legislation. In practice, the life of a calf in organic rearing systems can deviate from being natural, since common practices in dairy farms include early weaning, dehorning, or cow-calf separation soon after birth. This case study explores how calf welfare is approached in six different organic dairy farms and how far the concept of naturalness is implemented. The farms included in this study were located in Norway and Sweden. A semi-structured questionnaire was used for data collection. The interviewed farmers approach the concept of welfare in various ways and state that “naturalness” is an aspect of animal welfare. However, in practice in the calf rearing systems under study, only a few “naturalness” aspects were implemented. Reasons for the observed discrepancy might lie in differing understandings of “naturalness,” in economic restrictions, and in other trade-offs resulting from production system inherent characteristics and in limited regulation concerning provision of natural living aspects.  相似文献   
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Among road users, pedestrians are those whose continued trajectory is the less constrained by the environment and by the regulation rules. Consequently, the choice of where, when and how to cross roads are more or less conforming with the awaited behavior. Proceeding with an experimental approach, from observations of pedestrian crossings to the modeling of the decision-making process, a categorization of both environments and of pedestrian behavior is proposed.  相似文献   
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