Medium-chain acyl-CoA dehydrogenase (MCAD) deficiency is a potentially fatal inherited disease with a carrier frequency of approximately 1:100 in most Caucasian populations. The disease is implicated in sudden unexpected death in childhood. A prevalent disease-causing point mutation (A985G) in the MCAD gene has been characterized, thus rendering diagnosis easy in the majority of cases. Since the clinical spectrum of MCAD deficiency ranges from death in the first days of life to an asymptomatic life, there are probably other genetic factors—in addition to MCAD mutations—involved in the expression of the disease. Thus, families who have experienced the death of a child from MCAD deficiency might have an increased risk of a seriously affected subsequent child. In such a family we have therefore performed a prenatal diagnosis on a chorionic villus sample by a highly specific and sensitive polymerase chain reaction (PCR) assay for the G985 mutation. The analysis was positive and resulted in abortion. We verified the diagnosis by direct analysis on blood spots and other tissue material from the aborted fetus and from family members. 相似文献
Environmental Science and Pollution Research - The aim of the study was to determine if gold-mining activities could impact the mercury (Hg) concentrations and isotopic signatures in freshwater... 相似文献
The aim of the study, on which this paper is based, was to provide guidance to consumers to make environmentally responsible choices in their food consumption, to assist food supply chain stakeholders to identify the key areas for environmental improvements, and to provide policy makers with a tool for monitoring the potential impacts on climate change resulting from developments within the food sector. At the macro level, the EIO-LCA model was developed specifically for the Finnish food chain; at the micro level, LCAs were performed on 30 lunch portions. The contribution of the Finnish food chain to climate change was 14%, which comprised 40% CO2 emissions, 25% CH4 emissions, and 34% N2O emissions. The share of impacts from domestic agricultural processes was the highest, at 69%. The impact of a single lunch portion ranged between 0.65 and 3.80 kg of equivalent CO2. According to the EIO-LCA model, the average impact was 7.7 kg CO2 eq/person daily. The consumer phase accounted for between 8 and 47% of the climate change impacts for homemade portions. In ready-to-eat portions industry and retail phases were emphasized, representing 25-38% of climate change impacts. We present an approach to steer the Finnish food sector onto an environmentally sustainable path; practical tools for consumers and farmers will especially need to be developed further. 相似文献
Ambio - The choice of tree species used in production forests matters for biodiversity and ecosystem services. In Sweden, damage to young production forests by large browsing herbivores is helping... 相似文献
Ion-exchange resins (IER) offer alternative approaches to measuring ionic movement in soils that may have advantages over
traditional approaches in some settings, but more information is needed to understand how IER compare with traditional methods
of measurement in forested ecosystems. At the Bear Brook Watershed in Maine (BBWM), one of two paired, forested watersheds
is treated bi-monthly with S and N (28.8 and 25.2kgha−1yr−1 of S and N, respectively). Both IER and ceramic cup tension lysimeters were used to study soil solution responses after ∼11
years of treatment. Results from both methods showed treatments resulted in the mobilization of base cations and Al, and higher
SO4—S and inorganic N in the treated watershed. Both methods indicated similar differences in results associated with forest
type (hardwoods versus softwoods), a result of differences in litter quality and atmospheric aerosol interception capacity.
The correlation between lysimeter and IER data for individual analytes varied greatly. Significant correlations were evident
for Na (r=0.75), Al (r=0.65), Mn (r=0.61), Fe (r=0.57), Ca (r=0.49), K (r=0.41) and NO3—N (r=0.59). No correlation was evident between IER and soil solution data for NH4—N and Pb. Both IER and soil solution techniques suggested similar interpretations of biogeochemical behavior in the watershed. 相似文献
Explorations of future land use change are important to understand potential conflicts between competing land uses, trade-offs associated with particular land change trajectories, and the effectiveness of policies to steer land systems into desirable states. Most model-based explorations and scenario studies focused on conversions in broad land use classes, but disregarded changes in land management or focused on individual sectors only. Using the European Union (EU) as a case study, we developed an approach to identifying typical combinations of land cover and management changes by combining the results of multimodel simulations in the agriculture and forest sectors for four scenarios from 2000 to 2040. We visualized land change trajectories by mapping regional hotspots of change. Land change trajectories differed in extent and spatial pattern across the EU and among scenarios, indicating trajectory-specific option spaces for alternative land system outcomes. In spite of the large variation in the area of change, similar hotspots of land change were observed among the scenarios. All scenarios indicate a stronger polarization of land use in Europe, with a loss of multifunctional landscapes. We analyzed locations subject to change by comparing location characteristics associated with certain land change trajectories. Results indicate differences in the location conditions of different land change trajectories, with diverging impacts on ecosystem service provisioning. Policy and planning for future land use needs to account for the spatial variation of land change trajectories to achieve both overarching and location-specific targets.
Soils emit a large variety of volatile organic compounds. In natural ecosystems, measurements of microbial volatile organic compound (MVOC) exchange rates between soil and atmosphere are difficult due to e.g. the spatial heterogeneity of the belowground organisms, and due to the many potential sources for the same compounds. We measured in laboratory conditions the MVOC emission rates and spectra of eight typical fungi occurring in boreal forest soils. The studied species are decomposers (Gymnopilus penetrans, Ophiostoma abietinum), ectomycorrhizal (Cenococcum geophilum, Piloderma olivaceum, Suillus variegatus, Tomentellopsis submollis) and endophytic fungi (Meliniomyces variabilis, Phialocephala fortinii). The MVOC emissions contained altogether 21 known and 6 unidentified compounds whose emission rates were >0.1 μg g(DW)?1 h?1. The most abundant compounds were the short-chain carbonyl compounds (acetone and acetaldehyde). The greatest carbonyl emissions were measured from P. olivaceum (1.9 mg acetone g(DW)?1 h?1) and P. fortinii (0.114 mg acetaldehyde g(DW)?1 h?1). Terpenoid emissions (isoprene, mono- and sesquiterpenes) were detected from some fungal cultures, but in relatively small amounts. We conclude that soil micro-organisms can potentially be responsible for significant emissions of volatiles, especially short-chain oxygenated compounds, to the below-canopy atmosphere. 相似文献