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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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This paper aims to evaluate the environmental burdens associated with spray dried soluble coffee over its entire life cycle and compare it with drip filter coffee and capsule espresso coffee. It particularly aims to identify critical environmental issues and responsibilities along the whole life cycle chain of spray dried coffee. This life cycle assessment (LCA) specifically uses foreground data obtained directly from coffee manufacturers and suppliers. Aside from energy consumption and greenhouse gases emissions, water footprint is also studied in detail, including regionalization of water impacts based on the ecological scarcity method 2006. Other impact categories are screened using the IMPACT 2002+ impact assessment method.The overall LCA results for a 1 dl cup of spray dried soluble coffee amounts approximately to 1 MJ of primary non-renewable energy consumption, to emissions of 0.07 kg of CO2-eq, and between 3 and 10 l of non-turbined water use, depending on whether or not the coffee cultivation is irrigated and wet treated. When considering turbined water, use can be up to 400 l of water per cup. Pouch – and to a lesser extent metal can packaging alternatives – show lower environmental burdens than glass or sticks.On average, about one half of the environmental footprint occurs at a life cycle stage under the control of the coffee producer or its suppliers (i.e., during cultivation, treatment, processing, packaging up to distribution, along with advertising) and the other half at a stage controlled by the user (shopping, appliances manufacturing, use and waste disposal). Key environmental parameters of spray dried soluble coffee are the amount of extra water boiled and the efficiency of cup cleaning during use phase, whether the coffee is irrigated or not, as well as the type and amount of fertilizer used in the coffee field. The packaging contributes to 10% of the overall life cycle impacts.Compared to other coffee alternatives, spray dried soluble coffee uses less energy and has a lower environmental footprint than capsule espresso coffee or drip filter coffee, the latter having the highest environmental impacts on a per cup basis. This study shows that a broad LCA approach is needed to help industry to minimize the environmental burdens directly related to their products. Including all processes of the entire system is necessary i) to get a comprehensive environmental footprint of the product system with respect to sustainable production and consumption, ii) to share stakeholders responsibility along the entire product life cycle, and iii) to avoid problem shifting between different life cycle stages.  相似文献   
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Current knowledge on the abundance and distribution patterns of different soft coral species is relatively limited when compared to other benthic suspension feeders such as gorgonians and hard coral species. To overcome this scarcity of information, the distribution patterns of the soft corals Alcyonium acaule and Alcyonium palmatum were investigated in northwestern Mediterranean benthic communities over a wide geographical (60 km of coastline) and bathymetrical (0–70 m depth) extent using a remotely operated vehicle. A. acaule was the most abundant species in the study area with highest recorded density of 18 col m?2 found at depths of 35–45 m in areas that are directly exposed to strong near-bottom currents. Conversely, A. palmatum was only found as scattered solitary colonies at greater depths in soft bottoms, with maximum density of 2.4 col m?2. Medium and large colonies of A. acaule were preferentially found on sloping and vertical rocky bottoms where they form dense patches. High-density patches of A. acaule were preferentially found on vertical rocky bottom, while isolated colonies were preferentially observed on coralligenous substrata as well as on flat soft and maërl substrates. A. acaule biomass distribution showed highest values between 40 and 45 m depth, and between 60 and 65 m depth. This suggests that deeper populations are formed by colonies that are bigger than the equivalent shallower ones. Although both species are almost genetically identical, ecologically they are very different. For this reason, conservation plans should consider the differential ecological traits shown by these two soft coral species.  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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