Missed prenatal diagnosis of fragile-X syndrome

An account is given of a pregnancy in an obligatory carrier of the fragile-X syndrome, in whom examination of chorionic villus cells and fetal blood cells showed the presence of a male fetus who lacked the fragile-X chromosome. However, at 3 months of age he had 14 per cent of fragile-X cells in his blood. Reasons are suggested for this error in diagnosis. The empirical risk for an error of this sort is 3 per cent.     

USE OF DELPHI METHODOLOGY TO ASSESS GOALS AND SOCIAL IMPACTS OF A WATERSHED PROJECT1

ABSTRACT: The major objective is to report the way the Delphi methodology was employed in an environmental study aimed at identifying and ranking goals and social impacts of Cooper Dam and Reservoir Project located in the East Texas area. The Delphi procedures were modified to accommodate the nature of social field under study. Data were collected through personal interviews from twenty-seven respondents representing the government agency responsible for planning the Project and three communities geographically contiguous to the project. The respondents were provided an initial list of the Project's goals and social impacts and were asked to rank them in terms of degree of importance and to add to the list other goals and impacts that they would consider necessary. Respondents were interviewed in two successive rounds. Data show that on the whole the Delphi procedures were helpful in action analysis of the Project by identifying and ranking its goals and social impacts in terms of selected criteria.     

An acanthocephalan parasite increases the salinity tolerance of the freshwater amphipod <Emphasis Type="Italic">Gammarus roeseli</Emphasis> (Crustacea: Gammaridae)

Studies of the influence of parasites on host fitness generally conclude that parasites have a strong negative effect on their hosts. In this study, we have investigated experimentally the role of Polymorphus minutus, an acanthocephalan parasite, on the salinity tolerance of the freshwater amphipod Gammarus roeseli, one of its intermediate hosts. Unexpectedly, P. minutus-infected gammarids were more tolerant to salinity stress than uninfected ones. The mean lethal salt concentrations for 50% mortality of hosts tested were 17.3 (infected) and 9.7 g/L (uninfected). The parasitic load (one or two parasites per host) did not affect the result. The size of hosts had no significant influence on the salinity tolerance of either infected or uninfected gammarids. The mobility of all types of gammarid decreased when the salinity exceeded 9.0 g/L, but there was no significant difference between infected and uninfected gammarids. We discuss the higher salinity tolerance of infected amphipods in relation to O₂ consumption and osmoregulation. Finally, we demonstrate that the salinity tolerance is enhanced in the parasitized amphipod but without a significant change in behavior or an osmoregulatory adjustment.     

A comparison of 90Sr and 137Cs uptake in plants via three pathways at two Chernobyl-contaminated sites

Foliar absorption of resuspended 90Sr, root uptake and contamination adhering to leaf surfaces (i.e. soil loading) were compared at two Chernobyl-contaminated sites, Chistogalovka and Polesskoye. Although foliar absorption of resuspended 90Sr was quantifiable, its contribution amounted to less than 10% of the plants' total, above-ground contamination. Root uptake was 200 times greater than foliar absorption at the near-field site of Chistogalovka and eight times greater at Polesskoye, where the fallout consisted of the more soluble condensation-type, rather than fuel particles. Strontium's bioavailability exceeded that of 137Cs (analyzed in the same plants) by orders of magnitude when compared using concentration ratios. Simplistic, cumulative effective dose calculations for humans ingesting 90Sr- and 137Cs-contaminated plants revealed that the dose at Chistogalovka was greater from 90Sr (185 mSv vs. 3 mSv from 137Cs), while at Polesskoye the dose from 137Cs (66 mSv) was 30 times greater than from 90Sr (2 mSv).     

Environmental Impact Assessment Under the National Environmental Policy Act and the Protocol on Environmental Protection to the Antarctic Treaty

US government actions undertaken in Antarctica are subject to the requirements of both the Protocol and the US National Environmental Policy Act (NEPA). There are differences in the scope and intent of the Protocol and NEPA; however, both require environmental impact assessment (EIA) as part of the planning process for proposed actions that have the potential for environmental impacts. In this paper we describe the two instruments and highlight key similarities and differences with particular attention to EIA. Through this comparison of the EIA requirements of NEPA and the Protocol, we show how the requirements of each can be used in concert to provide enhanced environmental protection for the antarctic environment. NEPA applies only to actions of the US government; therefore, because NEPA includes certain desirable attributes that have been refined and clarified through numerous court cases, and because the Protocol is just entering implementation internationally, some recommendations are made for strengthening the procedural requirements of the Protocol for activities undertaken by all Parties in Antarctica. The Protocol gives clear and strong guidance for protection of specific, valued antarctic environmental resources including intrinsic wilderness and aesthetic values, and the value of Antarctica as an area for scientific research. That guidance requires a higher standard of environmental protection for Antarctica than is required in other parts of the world. This paper shows that taken together NEPA and the Protocol call for closer examination of proposed actions and a more rigorous consideration of environmental impacts than either would alone. Three areas are identified where the EIA provisions of the Protocol could be strengthened to improve its effectiveness. First, the thresholds defined by the Protocol need to be clarified. Specifically, the meanings of the terms “minor” and “transitory” are not clear in the context of the Protocol. The use of “or” in the phrase “minor or transitory” further confuses the meaning. Second, cumulative impact assessment is called for by the Protocol but is not defined. A clear definition could reduce the chance that cumulative impacts would be given inadequate consideration. Finally, the public has limited opportunities to comment on or influence the preparation of initial or comprehensive environmental evaluations. Experience has shown that public input to environmental documents has a considerable influence on agency decision making and the quality of EIA that agencies perform.     

The importance of incorporating functional habitats into conservation planning for highly mobile species in dynamic systems

The distribution of mobile species in dynamic systems can vary greatly over time and space. Estimating their population size and geographic range can be problematic and affect the accuracy of conservation assessments. Scarce data on mobile species and the resources they need can also limit the type of analytical approaches available to derive such estimates. We quantified change in availability and use of key ecological resources required for breeding for a critically endangered nomadic habitat specialist, the Swift Parrot (Lathamus discolor). We compared estimates of occupied habitat derived from dynamic presence‐background (i.e., presence‐only data) climatic models with estimates derived from dynamic occupancy models that included a direct measure of food availability. We then compared estimates that incorporate fine‐resolution spatial data on the availability of key ecological resources (i.e., functional habitats) with more common approaches that focus on broader climatic suitability or vegetation cover (due to the absence of fine‐resolution data). The occupancy models produced significantly (P < 0.001) smaller (up to an order of magnitude) and more spatially discrete estimates of the total occupied area than climate‐based models. The spatial location and extent of the total area occupied with the occupancy models was highly variable between years (131 and 1498 km²). Estimates accounting for the area of functional habitats were significantly smaller (2–58% [SD 16]) than estimates based only on the total area occupied. An increase or decrease in the area of one functional habitat (foraging or nesting) did not necessarily correspond to an increase or decrease in the other. Thus, an increase in the extent of occupied area may not equate to improved habitat quality or function. We argue these patterns are typical for mobile resource specialists but often go unnoticed because of limited data over relevant spatial and temporal scales and lack of spatial data on the availability of key resources. Understanding changes in the relative availability of functional habitats is crucial to informing conservation planning and accurately assessing extinction risk for mobile resource specialists.     

The effects on electricity prices in england and wales of notional sulphur dioxide emission standards for power stations

Reducing emissions of sulphur dioxide from the electricity industry in England and Wales would require application of abatement technology and raise electricity prices through increases in marginal supply costs. Capital and operating costs of alternative abatement techniques and their application under possible long-term investment and retirement plans for the industry are discussed. An approximate halving of projected emissions is found to have an effect of the order of 5% on prices under the existing tariff structure. Reductions of up to one-fifth are found to have an effect of under 1% on electricity prices.     

Zinc and lead sequestration in an impacted wetland system

The fate and bioavailability of pollutant metals is important to the long-term health of freshwater wetland systems, particularly in areas with elevated background levels of trace metals. Precipitation of some authigenic mineral phases in wetland sediments can potentially limit metal bioavailability through sequestration in low-solubility compounds, such as metal sulfides. Zinc and Pb concentrations were analyzed in water, plant and sediment samples taken from a metal-contaminated wetland in Chicago, IL, USA in order to assess metal fate and bioavailability, while X-ray absorption spectroscopy (XAS) studies were conducted to determine zinc speciation in the wetland sediments. The results showed sequestration of metal into the pond sediments, most likely in iron precipitate phases. In surface sediments, re-release of Zn and Pb into pore waters was correlated with microbial iron reduction, while the presence of sulfide in anoxic pore waters corresponded to decreased dissolved concentrations of both elements. Analysis of extended X-ray absorption fine structure (EXAFS) data confirmed that sulfide compounds dominated zinc speciation throughout the sediment. Uptake of trace metals in Phragmites plants was limited primarily to plant roots, while concentrations of both Pb and Zn in aquatic vegetation were significantly elevated, representing a potential bioaccumulation hazard.     

Prenatal diagnosis of the fragile X syndrome using fetal blood and amniotic fluid

Nineteen pregnancies at risk for the Martin–Bell syndrome have been monitored during the second trimester for the presence of the fragile Xq27. Of the 19 potential carrier mothers, 14 showed the presence of the fragile X in their lymphocytes at a level of 4 per cent or above. As one was a twin pregnancy, fetal blood was obtained at fetoscopy from 20 fetuses and amniotic fluid obtained simultaneously from 19 of them. Of the 20 fetuses, 18 were males (including both of the twins) and two were females. Of these 18 males, seven were found to carry the fragile Xq27 in lymphocytes and subsequently six of the seven were terminated. The diagnosis was confirmed in five of the six terminated fetuses (the sixth case was a patient whose pregnancy was terminated abroad) and also in a full-term male baby. Five of the seven males without the marker X who came to term had their karyotypes confirmed post natally. Of the two female fetuses one was found to be a carrier of the fragile X and the other was not. Both babies had full-term deliveries and both had their karyotypes confirmed post natally. In some cases the diagnosis made in fetal lymphocytes was confirmed later in amniocytes.     

A case of paternal uniparental disomy for chromosome 11

We report a case of paternal uniparental disomy for chromosome 11 that presented as severe intrauterine growth retardation. Autopsy following intrauterine death also revealed aberrant intestinal rotation and hypospadias. Chromosome analysis of direct preparations from placental biopsy showed an abnormal 47,XY,+11 karyotype. Analysis of long-term cultures from the placenta revealed 46,XY/47,XY,+11 mosaicism. Fluorescence in situ hybridization (FISH) studies on interphase nuclei confirmed trisomy 11 in multiple placental sites but detected only disomic cells in fetal skin. Investigation using microsatellite polymorphisms demonstrated paternal isodisomy at loci D11S909, D11S956, and D11S488, and paternal heterodisomy at locus D11S928.