Dystrophin protein and rflp analyis for fetal diagnosis and carrier confirmation of duchenne muscular dystrophy

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.     

Prenatal application of fluorescent in situ hybridization (FISH) for identification of a mosaic Y-chromosome marker,IDIC(Yp)

An amniocentesis was performed at 13.3 weeks' gestation for advanced maternal age. A mosaic sex chromosome pattern was found: of 50 cells examined, 34 had a 45,X karyotype. In 14 cells with a modal number of 46, a recognizable Y was substituted by a small non-fluorescent marker. C-banding identified the marker as an isodicentric in 12 cells. In two cells, the non-fluorescent marker appeared to be monocentric and looked like a non-fluorescent del (Yq), but could have been an isodicentric Y with inactivation of one of the centromeres. Two cells with a modal number of 47 showed two copies of the monocentric marker. Fluorescent in situ hybridization with an alpha satellite Y-specific centromeric probe confirmed the Y-chromosome origin of the markers and allowed for more accurate prenatal diagnostic information.     

Analysis of Lower Green Bay and Fox River,Collingwood Harbour,Spanish Harbour,and the Metro Toronto and Region remedial action plan (RAP) processes

This article presents a model of remedial action planning, which includes four key variables that determine progress in plan development and implementation and explain the differing level of achievement in individual sites. The model is illustrated by the characteristics and developments of four remedial action plan (RAP) processes (Lower Green Bay and Fox River, Collingwood Harbour, Spanish Harbour, and the Metro Toronto and Region RAPs). Differences in the local context of the plans have, to a significant degree, predisposed individual planning and implementation experiences. Local context includes three variables, namely geographical—technical and sociopolitical aspects and the previous history of water pollution management in the area. RAP precursors are a necessary precondition for progress in planning and substantive achievements. While there is a tendency that most geographically focused RAPs in administratively simple areas accomplish most, the motivation and political clout of RAP participants are strongly intervening factors. Resource input from upper levels of government, in particular financial commitment for plan implementation, is the fourth necessary ingredient for progress due to the RAPs' weak regulatory and institutional framework. Unfortunately, upper levels of government have shown widespread reluctance to lead in remedial action planning. This was only in part offset by local commitment and support for RAP and its cause.     

Getting the ‘pulse’ of your employees: the use of cardiovascular research in better understanding behavior in organizations

Cardiovascular disease has severe consequences for both individual betterment and organizational health. Yet, organization‐based cardiovascular research remains quite limited. This commentary addresses this void by integrating research dating from the famous Hawthorne experiments with current medical science. It then suggests future organizational research on cardiovascular health and recommends use of specific composite cardiovascular measures to advance our understanding of the organizational implications of cardiovascular disease. Copyright © 2006 John Wiley & Sons, Ltd.     

Augmenting Watershed Model Calibration with Incorporation of Ancillary Data Sources and Qualitative Soft Data Sources

Watershed simulation models such as the Soil & Water Assessment Tool (SWAT) can be calibrated using “hard data” such as temporal streamflow observations; however, users may find upon examination of model outputs, that the calibrated models may not reflect actual watershed behavior. Thus, it is often advantageous to use “soft data” (i.e., qualitative knowledge such as expected denitrification rates that observed time series do not typically exist) to ensure that the calibrated model is representative of the real world. The primary objective of this study is to evaluate the efficacy of coupling SWAT‐Check (a post‐evaluation framework for SWAT outputs) and IPEAT‐SD (Integrated Parameter Estimation and Uncertainty Analysis Tool‐Soft & hard Data evaluation) to constrain the bounds of soft data during SWAT auto‐calibration. IPEAT‐SD integrates 59 soft data variables to ensure SWAT does not violate physical processes known to occur in watersheds. IPEAT‐SD was evaluated for two case studies where soft data such as denitrification rate, nitrate attributed from subsurface flow to total discharge ratio, and total sediment loading were used to conduct model calibration. Results indicated that SWAT model outputs may not satisfy reasonable soft data responses without providing pre‐defined bounds. IPEAT‐SD provides an efficient and rigorous framework for users to conduct future studies while considering both soft data and traditional hard information measures in watershed modeling.     

Urban tracer dispersion experiments during the second DAPPLE field campaign in London 2004

As part of the DAPPLE programme two large scale urban tracer experiments using multiple simultaneous releases of cyclic perfluoroalkanes from fixed location point sources was performed. The receptor concentrations along with relevant meteorological parameters measured are compared with a three screening dispersion models in order to best predict the decay of pollution sources with respect to distance. It is shown here that the simple dispersion models tested here can provide a reasonable upper bound estimate of the maximum concentrations measured with an empirical model derived from field observations and wind tunnel studies providing the best estimate. An indoor receptor was also used to assess indoor concentrations and their pertinence to commonly used evacuation procedures.     

Implications of Conceptual Channel Representation on SWAT Streamflow and Sediment Modeling

Hydrologic modeling outputs are influenced by how a watershed system is represented. Channel routing is a typical example of the mathematical conceptualization of watershed landscape and processes in hydrologic modeling. We investigated the sensitivity of accuracy, equifinality, and uncertainty of Soil and Water Assessment Tool (SWAT) modeling to channel dimensions to demonstrate how a conceptual representation of a watershed system affects streamflow and sediment modeling. Results showed the amount of uncertainty and equifinality strongly responded to channel dimensions. On the other hand, the model performance did not significantly vary with the changes in the channel representation due to the degree of freedom allowed by the conceptual nature of hydrologic modeling in the parameter calibration. Such findings demonstrated good modeling performance statistics do not necessarily mean small output uncertainty, and partial improvements in the watershed representation may neither increase modeling accuracy nor reduce uncertainty. We also showed the equifinality and uncertainty of hydrologic modeling are case‐dependent rather than specific to models or regions, suggesting great caution should be used when attempting to transfer uncertainty analysis results to other modeling studies, especially for ungauged watersheds. Editor's note: This paper is part of the featured series on SWAT Applications for Emerging Hydrologic and Water Quality Challenges. See the February 2017 issue for the introduction and background to the series.     

How to Constrain Multi‐Objective Calibrations of the SWAT Model Using Water Balance Components

Accurate discharge simulation is one of the most common objectives of hydrological modeling studies. However, a good simulation of discharge is not necessarily the result of a realistic simulation of hydrological processes within the catchment. We propose an evaluation framework that considers both discharge and water balance components as evaluation criteria for calibration of the Soil and Water Assessment Tool (SWAT). In this study, we integrated average annual values of surface runoff, groundwater flow, and evapotranspiration in the model evaluation procedure to constrain the selection of good model runs for the Little River Experimental Watershed in Georgia, United States. For evaluating water balance and discharge dynamics, the Nash‐Sutcliffe efficiency (NSE) and percent bias (PBIAS) were used. In addition, the ratio of root mean square error and standard deviation of measured data (RSR) was calculated for individual segments of the flow duration curve to identify the best model runs in terms of discharge magnitude. Our results indicate that good statistics for discharge do not guarantee realistic simulations of individual water balance components. Therefore, we recommend constraining the ranges of water balance components to achieve a more realistic simulation of the entire hydrological system, even if tradeoffs between good statistics for discharge simulations and reasonable amounts of the water balance components are unavoidable. Editor's note : This paper is part of the featured series on SWAT Applications for Emerging Hydrologic and Water Quality Challenges. See the February 2017 issue for the introduction and background to the series.     

Evaluation of Existing and Modified Wetland Equations in the SWAT Model

The ability to accurately simulate flow and nutrient removal in treatment wetlands within an agricultural, watershed‐scale model is needed to develop effective plans for meeting nutrient reduction goals associated with protection of drinking water supplies and reduction of the Gulf of Mexico hypoxic zone. The objectives of this study were to incorporate new equations for wetland hydrology and nutrient removal in Soil and Water Assessment Tool (SWAT), compare model performance using original and improved equations, and evaluate the ramifications of errors in watershed and tile drain simulation on prediction of NO₃‐N dynamics in wetlands. The modified equations produced Nash‐Sutcliffe Efficiency values of 0.88 to 0.99 for daily NO₃‐N load predictions, and percent bias values generally less than 6%. However, statistical improvement over the original equations was marginal and both old and new equations provided accurate simulations. The new equations reduce the model's dependence on detailed monitoring data and hydrologic calibration. Additionally, the modified equations increase SWAT's versatility by incorporating a weir equation and an irreducible nutrient concentration and temperature coefficient. Model improvements enhance the utility of SWAT for simulating flow and nutrients in wetlands and other impoundments, although performance is limited by the accuracy of inflow and NO₃‐N predictions from the contributing watershed. Editor's note : This paper is part of the featured series on SWAT Applications for Emerging Hydrologic and Water Quality Challenges. See the February 2017 issue for the introduction and background to the series.