Cornelia de Lange syndrome (CdLS): prenatal and autopsy findings

Cornelia de Lange Syndrome (CdLS) is a multisystem disorder characterized by somatic defects and mental retardation. Prenatal diagnosis of this severe condition is difficult in view of the non-specific ultrasound abnormalities. We report three cases with prenatally suspected CdLS based on the ultrasound findings as well as low PAPP-A detected on first trimester screening in one case, and the results of the autopsy and the NIPBL gene mutation analysis. Copyright © 2009 John Wiley & Sons, Ltd.     

CONTAMINANT LEVELS IN PRECIPITATION AND URBAN SURFACE RUNOFF1

ABSTRACT: Precipitation and resultant runoff were sampled for a series of storm events over the period of one year. The test site was the parking lot of a large suburban shopping mall in the Syracuse, New York, area. Both precipitation and runoff were tested for lead, zinc, copper, cadmium, and petroleum hydrocarbons: substantial amounts were detected in each. No correlation was found between precipitation contaminant concentration and the length of the antecedent dry period. A weak, but apparently inverse relationship was noticed between concentration and amount of precipitation. Poor correlations were obtained between runoff contaminant concentration and the antecedent dry period. The variability attributable to different precipitation volumes was removed by converting to a unit-area basis. The variability attributable to precipitation contaminant load was removed by subtraction. The resultant value, dryfall accumulation, then correlated well with the length of the antecedent dry period. Metal ions were found in both precipitation and runoff and were hypothesized to come from atmospheric fallout as a result of distant emissions and from very localized sources, primarily vehicle traffic on the parking facility. Petroleum residues were believed to be the sole result of automobile losses, since none could be detected in precipitation samples.     

Perceptions of Species Abundance,Distribution, and Diversity: Lessons from Four Decades of Sampling on a Government-Managed Reserve

/ We examined data relative to species abundance, distribution, anddiversity patterns of reptiles and amphibians to determine how perceptionschange over time and with level of sampling effort. Location data werecompiled on more than one million individual captures or observations of 98species during a 44-year study period on the US Department of Energy's(DOE) Savannah River Site National Environmental Research Park (SRS-NERP) inSouth Carolina. We suggest that perceptions of herpetofaunal speciesdiversity are strongly dependent on level of effort and that land managementdecisions based on short-term data bases for some faunal groups could resultin serious errors in environmental management. We provide evidence thatacquiring information on biodiversity distribution patterns is compatiblewith multiyear spatially extensive research programs and also provide aperspective of what might be achieved if long-term, coordinated researchefforts were instituted nationwide.To conduct biotic surveys on government-managed lands, we recommend revisionsin the methods used by government agencies to acquire and report biodiversitydata. We suggest that government and industry employees engaged inbiodiversity survey efforts develop proficiency in field identification forone or more major taxonomic groups and be encouraged to measure the status ofpopulations quantitatively with consistent and reliable methodologies. Wealso suggest that widespread academic cooperation in the dissemination ofinformation on regional patterns of biodiversity could result byestablishment of a peer-reviewed, scientifically rigorous journal concernedwith status and trends of the biota of the United States. KEY WORDS: Abundance; Amphibian; Biodiversity; Distribution; Landmanagement; Reptile     

A review of radionuclides in tide-washed pastures on the Irish Sea coast in England and Wales and their transfer to food products

Close to the Sellafield Reprocessing Plant activity concentrations of many radionuclides including the long-lived 137Cs and actinides on tide-washed pastures bordering the Irish Sea are high compared with other terrestrial ecosystems in the United Kingdom. Despite the comparatively high deposition of radionuclides, contamination of agricultural products from tide-washed pastures is lower than would be predicted from studies in terrestrial ecosystems. This is because the main source of contamination in tide-washed pasture, radionuclides associated with sedimentary particles, has low availability for uptake by plant roots and in the gut of ruminants. Generalised Derived Limits (GDLs), published by the National Radiological Protection Board (NRPB) are estimates of environmental radioactivity concentrations which would potentially be radiologically significant. These provide a benchmark against which environmental measurements can be assessed. In the past, several comparisons of radioactivity concentrations in tide-washed pastures with GDLs have been made, but only some of these comparisons are valid since current approaches used to assess doses are not always strictly appropriate to these ecosystems. Directly applicable GDLs are needed, and are currently being developed by the NRPB.     

Impacts of ocean CO2 disposal on marine life: II. Probabilistic plume exposure model used with a time‐varying dose‐response analysis

A method to evaluate aquatic mortality given a pollutant distribution is presented and applied to several sample low pH plumes representing various ocean CO₂ disposal schemes. The method is an improvement over current analysis because it integrates the mortality due to timevarying exposure to low pH with the probabilistic experiences of passive organisms subject to turbulent lateral diffusion as they pass through the plume. For the examples presented, the plume was discretized laterally into lanes and longitudinally by time steps, and a random walk model accounting for the scaledependent nature of relative diffusion was used to simulate the organism pathways over one time step. From these simulations, the probability that an organism will be in a given lane, , one time step after it starts from an initial lane, , was determined for all combinations of and . These probabilities were used to find the number of organisms following each of the possible pathways, and the mortality to the organisms due to their time varying exposure to low pH was determined by using the toxicity model described in part I of this paper. The integrated method allows the impact of the plume to be described in terms of total organism mortality as well as spatial deficit of organisms.     

Impacts of ocean CO2 disposal on marine life: I. A toxicological assessment integrating constant‐concentration laboratory assay data with variable‐concentration field exposure

Feasibility studies suggest that the concept of capturing CO₂ from fossil fuel power plants and discharging it to the deep ocean could help reduce atmospheric CO₂ concentrations. However, the local reduction in seawater pH near the point of injection is a potential environmental impact. Data from the literature reporting on toxicity of reduced pH to marine organisms potentially affected by such a plume were combined into a model expressing mortality as a function of pH and exposure time. Since organisms exposed to real plumes would experience a time‐varying pH, methods to account for a variable exposure were reviewed and a new method developed based on the concept of isomortality. In part II of this paper, the method is combined with a random‐walk model describing the transport of passive organisms through a low pH plume leading to a Monte‐Carlo‐like risk assessment which is applied to several candidate CO₂ injection scenarios.     

Modeling radium and radon transport through soil and vegetation

A one-dimensional flow and transport model was developed to describe the movement of two fluid phases, gas and water, within a porous medium and the transport of 226Ra and 222Rn within and between these two phases. Included in this model is the vegetative uptake of water and aqueous 226Ra and 222Rn that can be extracted from the soil via the transpiration stream. The mathematical model is formulated through a set of phase balance equations and a set of species balance equations. Mass exchange, sink terms and the dependence of physical properties upon phase composition couple the two sets of equations. Numerical solution of each set, with iteration between the sets, is carried out leading to a set-iterative compositional model. The Petrov-Galerkin finite element approach is used to allow for upstream weighting if required for a given simulation. Mass lumping improves solution convergence and stability behavior. The resulting numerical model was applied to four problems and was found to produce accurate, mass conservative solutions when compared to published experimental and numerical results and theoretical column experiments. Preliminary results suggest that the model can be used as an investigative tool to determine the feasibility of phytoremediating radium and radon-contaminated soil.