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51.
We report a multiplex family with a GATA1 gene mutation responsible for a massive fetal cerebral hemorrhage occurring at 36 weeks. Two other stillbirth cousins presented with fetal hydrops and congenital hemochromatosis' phenotype at 37 and 12 weeks of gestation. Molecular screening revealed the presence of a c.613G>A pathogenic allelic variation in exon 4 of GATA1 gene in the 3 male siblings and their carrier mothers. The diagnosis of a GATA1 gene mutation may be suspected in cases of male fetuses with intracerebral bleeding, particularly if a history of prior fetal loss(es) and mild maternal thrombocytopenia are also present.  相似文献   
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Mussels are widespread in coastal environments and experience various physical, chemical, and bacteriological conditions. Owing to the increase of coastal urbanization, mussels are now commonly exposed not only to indigenous bacteria, but also to enteric bacteria originating from pulsed and chronic sewage discharges into coastal environments. Due to its broad resilience to environmental variations, the blue mussel Mytilus edulis is commonly used as an indicator of environmental quality in bio-monitoring programs. However, since mussel immune system capabilities may be affected by the presence of exogenous fecal bacteria in coastal seawater subjected to sewage discharges, we aimed to determine the effect of in vivo bacterial challenges on mussels' immune competency by using two exogenous enteric bacterial strains, Escherichia coli and Enterococcus faecalis, and an indigenous bacterial strain Vibrio splendidus (as control). Bacterial strains were tested individually, by injection into the posterior adductor muscle at three different cell densities (102, 103, and 104 cells). Unlike classic in vitro experiments using higher bacterial concentrations, neither the enteric bacteria nor the indigenous strain induced significant increase or decrease of either cell-mediated (phagocytosis, reactive oxygen species, and NO x production) or humoral components (prophenoloxidase-like, acid phosphatase, and l-leucine-aminopeptidase production) of the immune system. This study demonstrates that, at low concentrations, E. coli and E. faecalis do not represent an additional threat that could impair M. edulis immune competency and, as a consequence, its potential of survival in coastal areas subjected to sewage discharges.  相似文献   
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Nanosized zero-valent iron (nZVI) is an effective land remediation tool, but there remains little information regarding its impact upon and interactions with the soil microbial community. nZVI stabilised with sodium carboxymethyl cellulose was applied to soils of three contrasting textures and organic matter contents to determine impacts on soil microbial biomass, phenotypic (phospholipid fatty acid (PLFA)), and functional (multiple substrate-induced respiration (MSIR)) profiles. The nZVI significantly reduced microbial biomass by 29 % but only where soil was amended with 5 % straw. Effects of nZVI on MSIR profiles were only evident in the clay soils and were independent of organic matter content. PLFA profiling indicated that the soil microbial community structure in sandy soils were apparently the most, and clay soils the least, vulnerable to nZVI suggesting a protective effect imparted by clays. Evidence of nZVI bactericidal effects on Gram-negative bacteria and a potential reduction of arbuscular mycorrhizal fungi are presented. Data imply that the impact of nZVI on soil microbial communities is dependent on organic matter content and soil mineral type. Thereby, evaluations of nZVI toxicity on soil microbial communities should consider context. The reduction of AM fungi following nZVI application may have implications for land remediation.  相似文献   
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This article aims to explore a new approach to assess company decision systems regarding sustainability-related communication and decision support between senior management and product development levels. The assessment approach was developed in theory and its applicability was directly tested in action research in two small and medium-sized companies and two large companies. The results were validated against experiences made by two management consultancies. Our study indicates that successful companies should: (i) integrate sustainability into business goals and plans, backed up by suitable (ii) internal incentives and disincentives and (iii) decision support tools. Our study also indicates that the new assessment approach can be used as a template to assess the current state of sustainability integration in company decision systems.  相似文献   
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