McKusik-Kaufman syndrome: prenatal diagnosis,genetics and follow up

McKusick-Kaufman syndrome (MKKS) is a rare autosomal recessive genetic disease with classical hexadactyly and hydrocolpos in females and sometimes cardiac abnormality. We report such a case diagnosed just before birth with a favourable outcome. From this case we describe and discuss all the prenatal sonographic signs which are not always present. On the genetic side, the gene has recently been localized together with the mutation responsible for MKKS. The phenotypic relationship between MKKS which has a good prognosis and Bardet-Biedl syndrome (BBS) with a worse prognosis requires great caution before diagnosing MKKS and a long follow-up is necessary to recognize obesity, growth retardation and pigmentary retinitis. Copyright © 2002 John Wiley & Sons, Ltd.     

Framework and Tools for Agricultural Landscape Assessment Relating to Water Quality Protection

While many scientific studies show the influence of agricultural landscape patterns on water cycle and water quality, only a few of these have proposed scientifically based and operational methods to improve water management. Territ’eau is a framework developed to adapt agricultural landscapes to water quality protection, using components such as farmers’ fields, seminatural areas, and human infrastructures, which can act as sources, sinks, or buffers on water quality. This framework allows us to delimit active areas contributing to water quality, defined by the following three characteristics: (i) the dominant hydrological processes and their flow pathways, (ii) the characteristics of each considered pollutant, and (iii) the main landscape features. These areas are delineated by analyzing the flow connectivity from the stream to the croplands, by assessing the buffer functions of seminatural areas according to their flow pathways. Hence, this framework allows us to identify functional seminatural areas in terms of water quality and assess their limits and functions; it helps in proposing different approaches for changing agricultural landscape, acting on agricultural practices or systems, and/or conserving or rebuilding seminatural areas in controversial landscapes. Finally, it allows us to objectivize the functions of the landscape components, for adapting these components to new environmental constraints.     

Ecological risk assessment of pesticide residues in coastal lagoons of Nicaragua

A detailed investigation on the contamination with chlorinated hydrocarbons and organophosphorous pesticides of the coastal lagoon system of Chinandega district, Nicaragua, allowed the identification of contaminant sources and lagoon areas currently more contaminated. The discharge of rivers into the lagoons is the main transport pathway of pesticide residues; whereas atmospheric depositions are likely to be the main pathway for the introduction of PCBs into the lagoons. Analysis of water samples indicates widespread contamination with soluble organophosphorous compounds, such as dichlorvos, up to 410 ng L(-1), diazinon, up to 150 ng L(-1), and chlorpyrifos, up to 83 ng L(-1). Analyses of suspended matter for low solubility organochlorine (OC) compounds revealed very high concentrations of toxaphene, up to 17,450 ng g(-1) dry weight (dw), total DDTs up to 478 ng g(-1), Aroclor 1254, up to 119 ng g(-1) (dw), and lower concentrations for other compounds. Lagoon sediments contain high concentrations also of toxaphene, from 7.9 to 6,900 ng g(-1) (dw), and DDTs, from 1.5 to 321 ng g(-1) (dw), and lower concentrations of chlorpyrifos, hexachlorocyclohexanes, chlordane and other residues. Concentrations of OCs in soft tissues of clams are statistically correlated with the concentrations of the same compounds in bottom sediments, indicating that sediments are a source of contaminants to biota. In some areas of the lagoon system, concentration of residues in sediments are far above recommended threshold guideline values for protection of aquatic life, and may cause acute and chronic toxic effects on more sensitive aquatic species. Despite the ban on the use of toxaphene and DDT, residues of these compounds are still entering the lagoons due to erosion of, and leaching from, agriculture soils in the region. Measures for protection of the lagoon ecosystem are discussed.     

Bioremediation of Stranded Oil on an Arctic Shoreline

The application of slow-release and soluble fertilizers proved to be an effective and environmentally benign way of stimulating oil biodegradation on an Arctic shoreline. Fertilizer application to the surface of the beach delivered nutrients to the oiled sediment beneath the beach surface. There was no significant run-off of this fertilizer to either the nearshore water or to unfertilized plots, and there were no adverse toxicological effects of the fertilizer application. The fertilizer application was followed by an increase in oxygen consumption and carbon dioxide evolution from the beach, increased microbial biomass, and significantly greater biodegradation of oil on the plots that had received fertilizer. The rate of oil biodegradation was approximately doubled over the course of a year by fertilizer applications in the first two months after the spill.Simple test kits proved adequate to monitor the fertilizer-application process in the field in a time frame that would allow the application process to be fine-tuned during treatment on a real spill. Simple test kits and portable instrumentation were useful in demonstrating the initial success of the bioremediation strategy.     

Misspecification of within-area exposure distribution in ecological Poisson models

Ecological studies enable investigation of geographic variations in exposure to environmental variables, across groups, in relation to health outcomes measured on a geographic scale. Such studies are subject to ecological biases, including pure specification bias which arises when a nonlinear individual exposure-risk model is assumed to apply at the area level. Introduction of the within-area variance of exposure should induce a marked reduction in this source of ecological bias. Assuming several measurements per area of exposure and no confounding risk factors, we study the model including the within-area exposure variability when Gaussian within-area exposure distribution is assumed. The robustness is assessed when the within-area exposure distribution is misspecified. Two underlying exposure distributions are studied: the Gamma distribution and an unimodal mixture of two Gaussian distributions. In case of strong ecological association, this model can reduce the bias and improve the precision of the individual parameter estimates when the within-area exposure means and variances are correlated. These different models are applied to analyze the ecological association between radon concentration and childhood acute leukemia in France.

Copper release from chemical root-control baskets in hardwood tree production

The City of Montreal, Canada, evaluated the environmental impact and usefulness of in-ground copper (Cu)-treated baskets in controlling root growth of hardwood trees in nursery culture. Using baskets planted with 5-yr-old Norway maple (Acer platanoides L.) trees, the amount and temporal pattern of Cu release from the basket surface into soil was determined for two copper formulations: Cu metal powder and Cu(OH)2. Release of both Cu formulations from the basket surface decreased exponentially over time, with Cu concentration at the basket surface dropping to 2% of the initial Cu applied by the end of the second field season. Total Cu content increased significantly in the soil around the baskets (from 7 to 28 mg Cu kg(-1) soil) and in the baskets (from 7 to 50-70 mg Cu kg(-1) soil) over the two years of the study. Three levels of phosphorus application (33, 66, and 100% of the regular nursery rate of 465 kg ha(-1) yr(-1)) did not affect release of Cu from the basket surface. The release of Cu metal at 28 and 105 d in the field was significantly increased by inoculation with the symbiotic arbuscular mycorrhizal fungus (AMF) Glomus intraradices Schenck & Smith; however, AMF inoculation had no affect on Cu(OH)2 release. Trees grown in Cu-treated baskets and inoculated with G. intraradices had similar colonization to non-inoculated trees, suggesting that inoculation was not very effective and that AMF inoculum was already present in the root ball of the trees at planting. After two years, copper basket-grown trees had significantly less root colonization than isolated control trees growing in the open field. This strongly suggests that conditions inside the baskets were not favorable to AMF.     

Forecasting the number of soil samples required to reduce remediation cost uncertainty

Sampling scheme design is an important step in the management of polluted sites. It largely controls the accuracy of remediation cost estimates. In practice, however, sampling is seldom designed to comply with a given level of remediation cost uncertainty. In this paper, we present a new technique that allows one to estimate of the number of samples that should be taken at a given stage of investigation to reach a forecasted level of accuracy. The uncertainty is expressed both in terms of volume of polluted soil and overall cost of remediation. This technique provides a flexible tool for decision makers to define the amount of investigation worth conducting from an environmental and financial perspective. The technique is based on nonlinear geostatistics (conditional simulations) to estimate the volume of soil that requires remediation and excavation and on a function allowing estimation of the total cost of remediation (including investigations). The geostatistical estimation accounts for support effect, information effect, and sampling errors. The cost calculation includes mainly investigation, excavation, remediation, and transportation. The application of the technique on a former smelting work site (lead pollution) demonstrates how the tool can be used. In this example, the forecasted volumetric uncertainty decreases rapidly for a relatively small number of samples (20-50) and then reaches a plateau (after 100 samples). The uncertainty related to the total remediation cost decreases while the expected total cost increases. Based on these forecasts, we show how a risk-prone decision maker would probably decide to take 50 additional samples while a risk-averse decision maker would take 100 samples.