Prenatal diagnosis of mosaicism for triploidy and trisomy 13

Mosaicism for trisomy 13 and triploidy was detected by amniocentesis performed at 18 weeks' gestation because of fetal anomalies. Pregnancy continued and a live-born male was delivered vaginally at 37 weeks. The infant had features common to both trisomy 13 and triploidy: intrauterine growth retardation (IUGR), small abnormal ears, cleft palate, and a small jaw. In addition, he had complete cutaneous syndactyly of fingers 3 and 4 and partial syndactyly of the toes, as seen in triploidy. Mixoploidy for trisomy 13 and triploidy was confirmed postnatally in blood, skin, and placenta. Examination of chromosome heteromorphisms and DNA markers suggested the presence of two maternal contributions in the triploid cell line. In addition, the extra chromosome 13 in the trisomic cell line was derived from the mother. Copyright © 2001 John Wiley & Sons, Ltd.     

Quantitative PCR analysis of house dust can reveal abnormal mold conditions

Indoor mold concentrations were measured in the dust of moldy homes (MH) and reference homes (RH) by quantitative PCR (QPCR) assays for 82 species or related groups of species (assay groups). About 70% of the species and groups were never or only rarely detected. The ratios (MH geometric mean : RH geometric mean) for 6 commonly detected species (Aspergillus ochraceus, A. penicillioides, A. unguis, A. versicolor, Eurotium group, and Cladosporium sphaerospermum) were >1 (Group I). Logistic regression analysis of the sum of the logs of the concentrations of Group I species resulted in a 95% probability for separating MH from RH. These results suggest that it may be possible to evaluate whether a home has an abnormal mold condition by quantifying a limited number of mold species in a dust sample. Also, four common species of Aspergillus were quantified by standard culturing procedures and their concentrations compared to QPCR results. Culturing underestimated the concentrations of these four species by 2 to 3 orders of magnitude compared to QPCR.     

Fetal exsanguination following intrauterine angiographic assessment and selective termination of a hydrocephalic,monozygotic co-twin

Selective termination by intracardiac potassium chloride injection was performed in twins discordant for hydrocephaly at 20 weeks' gestation. Because of the potential for vascular anastomoses to exist between the twins, fetal angiography was performed prior to the selective termination procedure. Determination of vascular connections between the fetuses was hindered by fetal bradycardia following intracardiac administration of contrast material. Selective termination was performed without difficulty using intracardiac potassium chloride (KCl) to produce asystole in the twin with hydrocephaly. The unaffected fetus appeared active and had a normal heart rate during and immediately after the procedure. However, both twins were found to have died the following day. Pathologic examination documented several vascular anastomoses between the monochorionic, diamniotic fetuses. A likely cause of death was exsanguination of the normal twin into the abnormal one. This case illustrates the difficulties encountered in selective termination of monozygotic twins and, to our knowledge, represents the first reported use of intrauterine fetal angiography.     

Prenatal diagnosis using deletion studies in Duchenne muscular dystrophy

Accurate carrier testing and prenatal diagnosis in Duchenne muscular dystrophy (DMD) families is facilitated when an Xp21 deletion is found to be segregating within a family. We discuss the results of the DNA testing in two families, one in which DNA from affected males was available for study and the other in which no DNA from an affected male was available. Factors complicating the counselling of DMD deletion families are outlined.     

The use of enhanced bioremediation at the Savannah River Site to remediate pesticides and PCBs

Enhanced bioremediation is quickly developing into an economical and viable technology for the remediation of contaminated soils. Until recently, chlorinated organic compounds have proven difficult to bioremediate. Environmentally recalcitrant compounds, such as polychlorinated biphenyls (PCBs) and persistent organic pesticides (POPs) such as dichlorodiphenyl trichloroethane (DDT) have shown to be especially arduous to bioremediate. Recent advances in field‐scale bioremedial applications have indicated that biodegradation of these compounds may be possible. Engineers and scientists at the Savannah River Site (SRS), a major DOE installation near Aiken, South Carolina, are using enhanced bioremediation to remediate soils contaminated with pesticides (DDT and its metabolites, heptachlor epoxide, dieldrin, and endrin) and PCBs. This article reviews the ongoing remediation occurring at the Chemicals, Metals, and Pesticides (CMP) Pits using windrow turners to facilitate microbial degradation of certain pesticides and PCBs. © 2003 Wiley Periodicals, Inc.     

Reducing car-based journeys to work: What potential is there and whose responsibility is it?

To date the transport solutions seeking to reduce traffic impacts have tended to focus on city/town centres. There has, however, been a substantial increase in traffic levels both in and to suburban areas and the location of large employment sites in such areas has had a significant impact. The typical policy response to traffic in these areas has been the introduction of traffic calming measures and residents' parking but such policies do not address the fundamental issue of travel generation and its consequences (including parking). Major employers should have an important role to play in the consideration of more sensible and sustainable uses of the car including the promotion of alternatives to car use. Using a case study at a large institution in Oxford this paper examines findings from a survey into staff travel behaviour in order to identify how staff currently behave. It explores the potential for transport and non-transport solutions to reduce car-based journeys to work and concludes that there is real potential to encourage a reduction in car-based travel. The paper seeks to widen the debate about who should take responsibility for achieving such a reduction. It argues that whilst travel awareness campaigns primarily push responsibility onto individuals an 'integrated package' is required with employers also assuming responsibility and thereby enabling individuals to adapt.     

Design and risk assessment tool for vegetative treatment areas receiving agricultural wastewater: Preliminary results

Vegetative treatment areas (VTAs) are commonly being used as an alternative method of agricultural process wastewater treatment. However, it is also apparent that to completely prevent discharge of pollutants to the surrounding environment, settling of particulates and bound constituents from overland flow through VTAs is not sufficient. For effective remediation of dissolved agricultural pollutants, VTAs must infiltrate incoming wastewater. A simple water balance model for predicting VTA soil saturation and surface discharge in landscapes characterized by sloping terrain and a shallow restrictive layer is presented and discussed. The model accounts for the cumulative effect of successive rainfall events and wastewater input on soil moisture status and depth to water table. Nash–Sutcliffe efficiencies ranged from 0.65 to 0.81 for modeled and observed water table elevations after calibration of saturated hydraulic conductivity. Precipitation data from relatively low, average, and high annual rainfall years were used with soil, site, and contributing area data from an example VTA for simulations and comparisons. Model sensitivity to VTA width and contributing area (i.e. barnyard, feedlot, silage bunker, etc.) curve number was also investigated. Results of this analysis indicate that VTAs should be located on steeper slopes with deeper, more-permeable soils, which effectively lowers the shallow water table. In sloping landscapes (>2%), this model provides practitioners an easy-to-use VTA design and/or risk assessment tool that is more hydrological process-based than current methods.     

Coupled reservoir-geomechanical analysis of CO2 injection and ground deformations at In Salah,Algeria

In Salah Gas Project in Algeria has been injecting 0.5–1 million tonnes CO₂ per year over the past 5 years into a water-filled strata at a depth of about 1800–1900 m. Unlike most CO₂ storage sites, the permeability of the storage formation is relatively low and comparatively thin with a thickness of about 20 m. To ensure adequate CO₂ flow-rates across the low-permeability sand-face, the In Salah Gas Project decided to use long-reach (about 1–1.5 km) horizontal injection wells. In an ongoing research project we use field data and coupled reservoir-geomechanical numerical modeling to assess the effectiveness of this approach and to investigate monitoring techniques to evaluate the performance of a CO₂ injection operation in relatively low-permeability formations. Among the field data used are ground surface deformations evaluated from recently acquired satellite-based inferrometry (InSAR). The InSAR data shows a surface uplift on the order of 5 mm per year above active CO₂ injection wells and the uplift pattern extends several km from the injection wells. In this paper we use the observed surface uplift to constrain our coupled reservoir-geomechanical model and conduct sensitivity studies to investigate potential causes and mechanisms of the observed uplift. The results of our analysis indicate that most of the observed uplift magnitude can be explained by pressure-induced, poro-elastic expansion of the 20-m-thick injection zone, but there could also be a significant contribution from pressure-induced deformations within a 100-m-thick zone of shaly sands immediately above the injection zone.