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11.
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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Nitrous oxide (N2O) release and denitrification rates were investigated from the intertidal saltmarsh and mudflats of two European river estuaries, the Couesnon in Normandy, France and the Torridge in Devon, UK. Sediment cores and water were collected from each study site and incubated for 72 h in tidal simulation chambers. Gas samples were collected at 6 and 12 h intervals from the chambers during incubation. From these N2O emission rates were calculated. The greatest rates for both N2O production and denitrification were measured from saltmarsh cores. These were 1032 μmol N2O m?2 day?1 and 2518 μmol N2 m?2 day?1, respectively, from the Couesnon and 109 μmol N2O m?2 day?1 and 303 μmol N2 m?2 day?1 from the Torridge. A strong positive correlation was apparent with N2O emission rates and ammonium concentration in the sediment, nitrate concentration in floodwater and sediment aerobicity.  相似文献   
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In seeking to determine whether climate change mitigation strategies are effective, researchers and policy-makers typically use energy consumption as an indicator. UK government data show that energy use amongst the public is rising, despite measures to encourage energy conservation. Yet, research to date has not explicitly asked which actions the public are taking with the express intention of mitigating climate change. Using Stern's classification of impact-oriented and intent-oriented behaviour research, the research described in this paper examines both actions taken ‘out of concern for climate change’ and energy conservation practices amongst the UK public. The findings show a clear divergence between actions prescribed by policy-makers (i.e. energy conservation) and those taken by the public to mitigate climate change (e.g., recycling). Furthermore, those who take action to conserve energy generally do so for reasons unconnected to the environment (e.g., to save money). Regression analyses highlight the distinct determinants of these two behavioural categories. These findings imply that surveys using energy reduction as an indicator of public response to climate change falsely assume that these can be equated; consequently, they will provide a distorted picture of behavioural response. Possible reasons for the asymmetry of intentions and impacts, and policy implications, are discussed.  相似文献   
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The advances in ultrasound technology have made it possible to identify fetal structural abnormalities and genetic syndromes in the first trimester. First trimester prenatal diagnosis of fetal central nervous system, renal, gastrointestinal, cardiac, and skeletal abnormalities is reviewed. Copyright © 2002 John Wiley & Sons, Ltd.  相似文献   
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A multi‐scale soil moisture monitoring strategy for California was designed to inform water resource management. The proposed workflow classifies soil moisture response units (SMRUs) using publicly available datasets that represent soil, vegetation, climate, and hydrology variables, which control soil water storage. The SMRUs were classified, using principal component analysis and unsupervised K‐means clustering within a geographic information system, and validated, using summary statistics derived from measured soil moisture time series. Validation stations, located in the Sierra Nevada, include transect of sites that cross the rain‐to‐snow transition and a cluster of sites located at similar elevations in a snow‐dominated watershed. The SMRUs capture unique responses to varying climate conditions characterized by statistical measures of central tendency, dispersion, and extremes. A topographic position index and landform classification is the final step in the workflow to guide the optimal placement of soil moisture sensors at the local‐scale. The proposed workflow is highly flexible and can be implemented over a range of spatial scales and input datasets can be customized. Our approach captures a range of soil moisture responses to climate across California and can be used to design and optimize soil moisture monitoring strategies to support runoff forecasts for water supply management or to assess landscape conditions for forest and rangeland management.  相似文献   
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It has been previously reported that a low or absent maternal serum unconjugated estriol (uE3) level is associated with placental steroid sulfatase (STS) deficiency. Here we report a correlation between patients who present with a very low or absent maternal serum uE3 and a deletion of the STS gene as assessed by fluorescence in situ hybridization (FISH). We studied nine prenatal cases that presented to the clinical laboratory with an abnormal triple screen, specifically low or absent maternal serum uE3 and a 46,XY karyotype. FISH analysis showed complete deletion of a probe containing the STS gene in six cases and one case had a partial deletion (reduced but not absent signal). The remaining two cases were not deleted for the STS probe. All mothers tested whose fetus showed a deletion were shown to be STS deletion carriers using FISH. Biochemical analysis was performed on 7/9 prenatal specimens. All fetuses deleted for the STS probe were also found to be deficient for STS by biochemical analysis of cultured amniotic fluid (5/5). Of the two fetuses not deleted for the STS probe, one was deficient for STS activity, while the other had a normal result. The abnormal result of enzyme deficiency by biochemical analysis in a non-deletion case likely represents a mutation in the STS gene, not detectable by this FISH assay. Postnatal FISH confirmation of the STS deletion was performed in 1/7 cases. Clinical follow-up was available for 4/9 cases following birth. Copyright © 2002 John Wiley & Sons, Ltd.  相似文献   
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An analytical account of the history and aspirations of the Alex Wilson Community Garden in Toronto provides an ideal opportunity to examine the connections between two typically distinct enterprises: ecological restoration and community gardening. These are both important contemporary ecological movements, but are rarely combined in a single project that demonstrates the principles of sustainable land use and community planning. The garden is named in memory of Alex Wilson, a landscape designer, community activist and writer who worked and lived in Toronto, Canada. During his life, Wilson established a community garden which was eventually replaced by conventional urban development. After his death in 1993, friends and colleagues decided to honour his memory by establishing a permanent community garden in his name. The Alex Wilson Community Garden opened to the public in June 1998. The case-study explores how the garden reflects Wilson's work by linking community gardening and ecological restoration. These features are unified in Wilson's work as a means of nurturing relationships between people, communities and the landscape—relationships that are social, economic and ecological. In his book,The Culture of Nature: North American landscape from Disney to the Exxon Valdez (1991), Wilson argues that “we must build landscapes that heal and empower, that make intelligible our relations with each other and the natural world”. The Alex Wilson Community Garden illustrates in a practical manner the principles espoused by Wilson through its design, planning and functioning. The case-study reports on the innovative approach to landscape design taken in the garden, which reconstructs the natural and cultural history of southern Ontario, featuring lake-shore, agricultural and woodland sections. The garden has been planted exclusively with native plant species, and is expected to have a positive impact on local biodiversity. The planning process which led up to the design of the garden was participatory in nature, encompassing friends and colleagues of Alex Wilson, local residents and city planning officials, and made use of a number of planning tools not usually applied in an urban setting, including the granting of a conservation easement. The garden also addresses emerging issues associated with globalisation and large cities by providing food production opportunities for local residents, including a low-income housing complex and a nearby drop-in centre. Ecological monitoring and assessment of the naturalised area will be carried out by local residents.  相似文献   
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