Split-hand/split-foot malformation with paternal mutation in the p63 gene

We report the prenatal diagnosis at 16 weeks' gestation of bilateral split-hand/split-foot malformation (SHSFM) with severe lobster claw deformity of hands and feet in a male fetus without associated malformations. A minor manifestation of SHSFM was present in the father with only mild bilateral foot involvement (syndactyly I–II; cleft II–III; left cutaneous syndactyly III–IV). Mutation analysis of the p63 gene on chromosome 3q27 showed a missense mutation 577A→G (predicting amino acid substitution K193E) in the father. This mutation has not been reported so far in SHSFM but resembles the previously reported 580A→G (predicting amino acid substitution K194E) in a family with SHSFM. Copyright © 2001 John Wiley & Sons, Ltd.     

Prenatal diagnosis of Juberg–Hayward syndrome

Juberg–Hayward syndrome is a rare autosomal recessive syndrome characterised by the association of growth retardation, microcephaly, cleft lip and palate, and thumb and radial ray abnormalities. To date, no prenatal cases have been reported. Here, we report on the first prenatal case of Juberg–Hayward syndrome. The diagnosis was established following fetopathological study. Besides the cardinal features of the syndrome, this prenatal case was remarkable for the severity of the short arm malformation and by the finding of big toe agenesis and cerebral abnormalities including hydrocephalus, agenesis of corpus callosum, and cerebellar hypoplasia. We conclude that the diagnosis of Juberg–Hayward syndrome can be discussed prenatally following ultrasound diagnosis of the association of intrauterine growth restriction, microcephaly, thumb/radial anomalies, and cleft lip/palate. Copyright © 2005 John Wiley & Sons, Ltd.     

Identifying the land use and land cover change drivers: methods and case studies of two forest reserves in Northern Benin

Environment, Development and Sustainability - Land use and land cover change (LULCC) is one of the problems that the world has been facing for the last few decades despite political attention....     

Simulation of a 100-MW solar-powered thermo-chemical air separation system combined with an oxy-fuel power plant for bio-energy with carbon capture and storage (BECCS)

The combination of concentrated solar power–chemical looping air separation (CSP-CLAS) with an oxy-fuel combustion process for carbon dioxide (CO₂) capture is a novel system to generate electricity from solar power and biomass while being able to store solar power efficiently. In this study, the computer program Advanced System for Process Engineering Plus (ASPEN Plus) was used to develop models to assess the process performance of such a process with manganese (Mn)-based oxygen carriers on alumina (Al₂O₃) support for a location in the region of Seville in Spain, using real solar beam irradiance and electricity demand data. It was shown that the utilisation of olive tree prunings (Olea europaea) as the fuel—an agricultural residue produced locally—results in negative CO₂ emissions (a net removal of CO₂ from the atmosphere). Furthermore, it was found that the process with an annual average electricity output of 18 MW would utilise 2.43% of Andalusia’s olive tree prunings, thereby capturing 260.5 k-tonnes of CO₂, annually. Drawbacks of the system are its relatively high complexity, a significant energy penalty in the CLAS process associated with the steam requirements for the loop-seal fluidisation, and the gas storage requirements. Nevertheless, the utilisation of agricultural residues is highly promising, and given the large quantities produced globally (~?4 billion tonnes/year), it is suggested that other novel processes tailored to these fuels should be investigated, under consideration of a future price on CO₂ emissions, integration potential with a likely electricity grid system, and based on the local conditions and real data.

     

Bi-national assessment of the Great Lakes: SOLEC partnerships

Many administrative jurisdictions have authority over parts of the Great Lakes, sometimes with competing purposes as well as governance at differing scales of time and space. As demand increases for high quality information that is relevant to environmental managers, environmental and natural resource agencies with limited budgets must look to interdisciplinary, collaborative approaches for the collection, analysis and reporting of data. The State of the Lakes Ecosystem Conferences (SOLEC) were begun in 1994 in response to reporting requirements of the Great Lakes Water Quality Agreement between Canada and the U.S. The biennial conferences provide independent, science-based reporting on the state of health of the Great Lakes ecosystem components. A suite of indicators necessary and sufficient to assess Great Lakes ecosystem status was introduced in 1998, and assessments based on a subset of the indicators were presented in 2000. Because SOLEC is a multi-agency, multi-jurisdictional reporting venue, the SOLEC indicators require acceptance by a broad spectrum of stakeholders in the Great Lakes basin. The SOLEC indicators list is expected to provide the basis for government agencies and other organizations to collaborate more effectively and to allocate resources to data collection, evaluation and reporting on the state of the Great Lakes basin ecosystem.     

The fate of fipronil in modular estuarine mesocosms

The degradation and corresponding product manifold for the pesticide fipronil was determined in three replicate estuarine mesocosms. Aqueous fipronil concentrations rapidly decreased over the 672 h timescale of the experiment (95% removal). Loss was apparently first-order in fipronil, although there appeared to be a change in the removal mechanism after 96 h that corresponded to a dramatic slowdown in its disappearance. The reduction product of fipronil, fipronil sulfide, was not detected in the water column; however, it formed rapidly in sediments and was identified as the major product of fipronil degradation in the system (20% yield at 672 h, with respect to initial fipronil concentration). Fipronil sulfone is thought to form primarily via biological oxidation; and, although it was generated rapidly in the water column (10% yield), only trace amounts were detected in the sediment (1% yield). The direct photolysis product of fipronil, fipronil desulfinyl, was present in all samples; it formed rapidly in the water column (4% yield) and partitioned into the sediment phase (7% yield) over the course of the experiment. The mass balance on fipronil and associated products was 42% at 672 h.     

Competitive Retention of Lead and Cadmium on an Agricultural Soil

Lead and cadmium contamination of an agricultural soil has been studied using batch and column experiments. Thermodynamics of theretention phenomena may be represented by a Langmuir isotherm foran aqueous metal concentration up to 100 mg L^-1. First order kinetics with respect to the solid phase yield good predictabilityfor both batch and column experiments. Kinetics and thermodynamics of lead retention predominate over those ofcadmium. As a consequence, lead is preferentially retainedand can even displace sorbed cadmium. In the event of anspill involving both metals, cadmium would move further inthe soil and its aqueous concentration downstream could beeven higher than that of the influent solution, increasingpotential risks. A two-region model has been used to fit all the experimental results. Satisfactory predictions for column experiments are obtained with parameters which are consistent with those obtained for the batch experiments, for which sorption is described by a Langmuir isotherm including competitive retention.     

Status and Trends of Dissolved Oxygen in Corpus Christi Bay, Texas, U.S.A.

The purpose of this studywas to determine status and long-term trends of dissolved oxygen concentrations (DO) in Corpus Christi Bay, Texas, U.S.A. A 20-year record of randomized stations was used to determine the trend of surface water DO, salinity, and temperature over space and time. A 13-year record of two fixed stations was used to determine the temporal nutrient trends. A 10-year record of fixed stations in the southeastern region of Corpus Christi Bay was used to determine the status of disturbance caused by low DO in bottom waters. From 1982 to 2002, there was a significant decrease in surface water DO at a rate of 0.06 mg L⁻¹ yr⁻¹ and a significant increase in surface water temperature at a rate of 0.07°C yr⁻¹. The southeastern region of Corpus Christi Bay had the lowest average DO, and during July and August, DO are steadily declining at a rate of 0.09 mg L⁻¹ yr⁻¹. It is not likely that eutrophication is causing hypoxia, because freshwater inflow rates have significantly decreased since 1941 and nutrient levels have not changed from 1987 to 2000. Even though long-term trends indicate that average surface DO is decreasing, disturbance by hypoxia appears to be stable, but this may be due to just eight years of data. In fact, if the current trend continues, surface water DO will not meet exceptional aquatic life standards (≤5 mgL⁻¹) in 2032.