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.     

Determination of organochlorine and organophosphorus pesticide residues in low moisture,nonfatty products using a solid phase extraction cleanup and gas chromatography

Abstract

A multiresidue solid‐phase extraction (SPE) method for the isolation and subsequent gas Chromatographie determination of organochlorine and organophosphorus pesticide residues in low‐moisture, nonfatty products is described. Residues are extracted from samples with an acetonitrile/water mixture. Cleanup of the extract is performed using graphitized carbon black and anion exchange SPE columns, and analysis is performed by gas chromatography with Hall electrolytic conductivity and flame photometric detection. Recovery data was obtained by fortifying corn, oats and wheat with pesticides. The average recoveries were 79–123% for eight organochlorine and 51–122% for 28 organophosphorus pesticide residues. The limit of quantitation for chlorpyriphos was 0.05 ppm using the Hall electrolytic conductivity detector and <0.005 ppm using the flame photometric detector.     

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.     

DISSIPATION OF 2,4-D DMA AND BEE FROM WATER,MUD, AND FISH AT LAKE SEMINOLE,GEORGIA1

ABSTRACT: Four 10-ha plots in dense watermilfoil beds of Lake Seminole, Georgia, were each treated with either 2,4-D DMA or 2,4-D BEE at rates of 22.5 and 45 kg a.e./ha. Both formulations were shown to be rapidly converted to the 2,4-D acid form, with no detection of 2,4-D DMA or 2,4-D BEE in the water within less than 24 hours after treatment. The maximum detected 2,4-D concentrations in the high rate 2,4-D DMA and 2,4-D BEE plots were 3.6 and 0.68 mg/, respectively. However, all but seven samples at a 2,4-D BEE plot showed nondetectable herbicide levels by day 7, with all water samples showing nondetectable levels by day 13. Dimethylnitrosamine and 2,4-dichlorophenol, potentially toxic transformation products of the herbicide formulations, were at nondetectable levels in all water samples. Sediment samples showed no significant net accumulation of 2,4-D, 2,4-D BEE, or 2,4-dichlorophenol during the summer monitoring; dimethylnitrosamine remained at nondetectable levels. There was no accumulation of 2,4-D in fish collected from the two plots treated with 2,4-D DMA. Four of 24 game fish from the 2,4-D BEE treatment plots contained low levels of 2,4-D in muscle tissue, with a maximum value of 0.29 μg/g. In contrast, 18 of 20 gizzard shad collected from these plots through day 13 contained detectable 2,4-D in the muscle, with a maximum concentration of 6.9 μg/g. All fish collected after day 13 contained nondetectable levels of 2,4-D. Small decreases in dissolved oxygen and pH, associated with the complete watermilfoil control in all plots, had returned to normal summer values by day 28.     

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     

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.