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William D. Boelter MD Beth Ann Burt Elaine B. Spector David R. Hinton Zdena Pavlova Atsuko Fujimoto 《黑龙江环境通报》1990,10(11):703-715
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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Emerging Tools for Continuous Nutrient Monitoring Networks: Sensors Advancing Science and Water Resources Protection 下载免费PDF全文
Brian A. Pellerin Beth A. Stauffer Dwane A. Young Daniel J. Sullivan Suzanne B. Bricker Mark R. Walbridge Gerard A. Clyde Jr. Denice M. Shaw 《Journal of the American Water Resources Association》2016,52(4):993-1008
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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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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Marilyn Ginsberg 《Journal of the American Water Resources Association》1985,21(4):573-578
ABSTRACT: Lakes, marshes and wet meadows occur in the broad, flat, interdune valleys of the Nebraska Sandhills, a vegetation-stabilized dune field underlain by sediments containing an enormous supply of groundwater. Hydrologic, geologic and possibly climatologic factors influence the chemical quality of lake water. Central and eastern lakes generally are in connection with the groundwater reservoir. The hydrologic nature of western lakes and the cause of their high alkalinity is not fully understood. Lakes in close proximity may vary in both their chemical characteristics and in the degree to which they change in size and depth over time. Climatic, hydrogeologic and natural lake-aging processes of accumulation of organics appear to be primarily responsible for lake-size variations. 相似文献
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Mary Beth Adams James N. Kochenderfer Pamela J. Edwards 《Water, Air, & Soil Pollution: Focus》2007,7(1-3):267-273
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