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A pregnant woman with indeterminate Duchenne muscular dystrophy (DMD) carrier status, but with DMD diagnosed in her deceased brother (unavailable for study), presented for prenatal diagnosis, intending to continue the pregnancy only if proven unaffected with DMD with near absolute certainty. Creatine kinase (CK) assays to clarify carrier status were inconclusive. Male sex in the fetus was identified, but DNA restriction fragment length polymorphism (RFLP) analysis was not yet available to this centre to investigate the possible transmission of the DMD gene, and the pregnancy was terminated. Tissue histology and dystrophin protein analysis demonstrated the absence of DMD. In a situation with proven maternal carrier status, future fetal inheritance of the opposite maternal X chromosome would indicate the presence of DMD. However, maternal carrier status remained in doubt through a second pregnancy, even with RFLP studies, and was finally established when dystrophin analysis confirmed the presence of DMD in the second fetus. Histologic findings are presented, contrasting features in the two fetuses. The value of dystrophin analysis for establishing the diagnosis of fetal DMD, in this case proving maternal carrier status in a difficult situation, and for demonstrating DMD gene:RFLP haplotype relationships is illustrated.  相似文献   
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Sensors and enabling technologies are becoming increasingly important tools for water quality monitoring and associated water resource management decisions. In particular, nutrient sensors are of interest because of the well‐known adverse effects of nutrient enrichment on coastal hypoxia, harmful algal blooms, and impacts to human health. Accurate and timely information on nutrient concentrations and loads is integral to strategies designed to minimize risk to humans and manage the underlying drivers of water quality impairment. Using nitrate sensors as the primary example, we highlight the types of applications in freshwater and coastal environments that are likely to benefit from continuous, real‐time nutrient data. The concurrent emergence of new tools to integrate, manage, and share large datasets is critical to the successful use of nutrient sensors and has made it possible for the field of continuous monitoring to rapidly move forward. We highlight several near‐term opportunities for federal agencies, as well as the broader scientific and management community, that will help accelerate sensor development, build and leverage sites within a national network, and develop open data standards and data management protocols that are key to realizing the benefits of a large‐scale, integrated monitoring network. Investing in these opportunities will provide new information to guide management and policies designed to protect and restore our nation's water resources.  相似文献   
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The initial step in the analysis of contaminant transport in fractured rock requires the consideration of groundwater velocity. Practical methods for estimating the average linear groundwater velocity (vˉ) in fractured rock require determination of hydraulic apertures which are commonly calculated by applying the cubic law using transmissivity (T) values and the number of hydraulically active fractures in the test interval. High-resolution, constant-head step injection testing of cored boreholes in a 100 m thick fractured dolostone aquifer was conducted using inflatable packers to isolate specific test intervals from the rest of the borehole. The steps in each test interval were gradually increased from very low to much higher injection rates. At smaller injection rates, the flow rate vs. applied pressure graph projects through the origin and indicates Darcian flow; non Darcian flow is evident at higher injection rates. Non-Darcian flow results in significantly lower calculated T values, which translates to smaller hydraulic aperture values. Further error in the calculated hydraulic aperture stems from uncertainty in the number of hydraulically active fractures in each test interval. This estimate can be inferred from borehole image and core logs, however, all of the fractures identified are not necessarily hydraulically active. This study proposes a method based on Reynolds number calculations aimed at improving confidence in the selection of the number of active fractures in each test interval.  相似文献   
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Simulating the fate and transport of TCE from groundwater to indoor air   总被引:1,自引:0,他引:1  
This work provides an exploratory analysis on the relative importance of various factors controlling the fate and transport of volatile organic contaminants (in this case, TCE) from a DNAPL source zone located below the water table and into the indoor air. The analysis is conducted using the multi-phase compositional model CompFlow Bio, with the base scenario problem geometry reminiscent of a field experiment conducted by Rivett [Rivett, M.O., (1995), Soil–gas signatures from volatile chlorinated solvents: Borden field experiments. Groundwater, 33(1), 84–98.] at the Borden aquifer where groundwater was observed to transport a contaminant plume a substantial distance without vertical mass transport of the contaminant across the capillary fringe and into the vadose zone. Results for the base scenario model indicate that the structure of the permeability field was largely responsible for deflecting the groundwater plume upward towards the capillary fringe, permitting aqueous phase diffusion to transport the TCE into the vadose zone. Alternative permeability realizations, generated as part of a Monte Carlo simulation process, at times deflected the groundwater plume downwards causing the extended thickness of the saturated zone to insulate the vadose zone from exposure to the TCE by upward diffusive transport. Comparison of attenuation coefficients calculated using the CompFlow Bio and Johnson and Ettinger [Johnson, P.C. and Ettinger, R.A., (1991), Heuristic model for predicting the intrusion rate of contaminant vapors into buildings. Environmental Science and Technology, 25, 1445–1452.] heuristic model exhibited fortuitous agreement for the base scenario problem geometry, with this agreement diverging for the alternative permeability realizations as well as when parameters such as the foundation slab fracture aperture, the indoor air pressure drop, the capillary fringe thickness, and the infiltration rate were varied over typical ranges.  相似文献   
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In 1989, a watershed acidification experiment was begun on the Fernow Experimental Forest in West Virginia, USA. Ammonium sulfate fertilizer (35.5 kg N ha−1 yr−1and 40.5 kg S ha−1 yr−1) was applied to a forested watershed (WS3) that supported a 20-year-old stand of eastern deciduous hardwoods. Additions of N and S are approximately twice the ambient deposition of nitrogen and sulfur in the adjacent mature forested watershed (WS4), that serves as the reference watershed for this study. Acidification of stream water and soil solution was documented, although the response was delayed, and acidification processes appeared to be driven by nitrate rather than sulfate. As a result of the acidification treatment, nitrate solution concentrations increased below all soil layers, whereas sulfate was retained by all soil layers after only a few years of the fertilization treatments, perhaps due to adsorption induced from decreasing sulfate deposition. Based on soil solution monitoring, depletion of calcium and magnesium was observed, first from the upper soil horizons and later from the lower soil horizons. Increased base cation concentrations in stream water also were documented and linked closely with high solution levels of nitrate. Significant changes in soil chemical properties were not detected after 12 years of treatment, however.  相似文献   
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The unprecedented population growth of recent years and the requisite economic activity to support that growth have heightened public awareness of the resultant environmental challenges we now face. Today it is widely acknowledged that we must change course to assure the same quality of life for future generations as has been experienced by those of the past. These changes in human behavior must occur in individuals, organizations, businesses, communities, and governments. The basis of this change will occur through education and leadership. Many initiatives have evolved to begin this movement toward sustainability, but the higher education sector, which prepares our leaders, has been slow to respond. The founders of one new initiative, BRIDGES, explore what needs to be done to drive this change, what is already being done, and how the BRIDGES program uses partnerships with these existing efforts to create a model of what higher education must offer in order to prepare effective leaders for tomorrow.  相似文献   
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