Prenatal diagnosis and intrafamilial clinical heterogeneity of Fraser syndrome

Fraser syndrome (MIM 219000) is a rare disorder of autosomal recessive inheritance, characterized by the association of cryptophthalmos, syndactyly and genital abnormalities. Here we report on two cases of Fraser syndrome (cryptophthalmos syndrome) in a non-consanguineous couple, with variable expression in echographic, clinical and autopsy findings. Furthermore, we highlight the difficulties in prenatal diagnosis of Fraser syndrome. Copyright © 2002 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.     

The indirect involvement of buses in traffic accident processes

The involvement of buses in accidents usually is assessed implicitly on the basis of the direct involvement of the bus in the collision or in injury production. This paper deals with the scope and forms of indirect involvement of buses (as a sight obstruction, for example). Accidents were selected by identifying the presence of the term ‘bus’ or synonyms in the text parts of complete police reports (testimonies, statements by the persons involved, etc.) available in electronic form, then analysed in detail. Direct or indirect involvement of a bus is found in 3.6% of traffic injury accidents reported by the police in the community studied (direct involvement: 1.4%; indirect involvement: 2.2%). The different forms of indirect involvement are then described, and some possibilities of preventive measures are discussed.     

Barriers to Renewable Energy Development on Brownfields

Brownfields that are reused for the generation of renewable energy are called brightfields. This rapidly emerging idea advocates the combination sustainable site reuse and the generation of electricity from renewables. While programmes like the RE-Powering America's Land Initiative herald its benefits, academia knows but little of its barriers and challenges. This study aims to examine the technical/environmental, regulator/financial/institutional, and social barriers to this type of development, along with measures that may address them. The barriers and measures were predominately identified via a qualitative and quantitative survey sent to brightfield developers (experts), along with a review of case studies and the emerging brightfield literature. The study found that environmental/technical barriers only differ from ‘conventional’ renewable energy projects (e.g. on Greenfields) in the event of site contamination. The latter then is what makes brightfields unique and is the source for a myriad of challenges concerning risk and liability, which cause financial problems and investment hesitance. However, evidence conjectures that there is less contextual public opposition to brightfields compared to conventional renewable energy.     

The integrated biomarker response revisited: optimization to avoid misuse

The growing need to evaluate the quality of aquatic ecosystems led to the development of numerous monitoring tools. Among them, the development of biomarker-based procedures, that combine precocity and relevance, is recommended. However, multi-biomarker approaches are often hard to interpret, and produce results that are not easy to integrate in the environmental policies framework. Integrative index have been developed, and one of the most used is the integrated biomarker response (IBR). However, an analysis of available literature demonstrated that the IBR suffers from a frequent misuse and a bias in its calculation. Then, we propose here a new calculation method based on both a more simple formula and a permutation procedure. Together, these improvements should rightly avoid the misuse and bias that were recorded. Additionally, a case study illustrates how the new procedure enabled to perform a reliable classification of site along a pollution gradient based on biomarker responses used in the IBR calculations.     

Freshwater fish diversity hotspots for conservation priorities in the Amazon Basin

Conserving freshwater habitats and their biodiversity in the Amazon Basin is a growing challenge in the face of rapid anthropogenic changes. We used the most comprehensive fish-occurrence database available (2355 valid species; 21,248 sampling points) and 3 ecological criteria (irreplaceability, representativeness, and vulnerability) to identify biodiversity hotspots based on 6 conservation templates (3 proactive, 1 reactive, 1 representative, and 1 balanced) to provide a set of alternative planning solutions for freshwater fish protection in the Amazon Basin. We identified empirically for each template the 17% of sub-basins that should be conserved and performed a prioritization analysis by identifying current and future (2050) threats (i.e., degree of deforestation and habitat fragmentation by dams). Two of our 3 proactive templates had around 65% of their surface covered by protected areas; high levels of irreplaceability (60% of endemics) and representativeness (71% of the Amazonian fish fauna); and low current and future vulnerability. These 2 templates, then, seemed more robust for conservation prioritization. The future of the selected sub-basins in these 2 proactive templates is not immediately threatened by human activities, and these sub-basins host the largest part of Amazonian biodiversity. They could easily be conserved if no additional threats occur between now and 2050.     

Distribution and relationships of As,Cd, Pb and Hg in freshwater fish from five French fishing areas

The concentrations of arsenic, cadmium, mercury and lead in 149 muscle samples of eight freshwater fish species (European eel, bream, common carp, European catfish, roach, perch, pike and pikeperch) from five different French fishing areas from contaminated and control sites were measured by inductively coupled plasma mass spectrometry after microwave digestion under pressure. No significant correlation was found between the condition factor (CF), based on the length–mass relationship, and As, Cd and Pb levels in all the samples analysed, but a positive correlation was detected between CF and Hg levels (P < 0.0001, R = 0.49). Positive correlations with body length were only found for Hg in roach (P < 0.05, R = 0.32) and Pb in bream (P < 0.05, R = 0.48) and correlations with both body weight and length were also found for Hg in pike (P < 0.05, R = 0.90 and 0.86) and Cd in European eel (P < 0.01, R = ?0.35 and ?0.37). The average content and the standard deviation in fish muscle samples was 0.007 ± 0.012, 0.102 ± 0.077, 0.142 ± 0.097 and 0.035 ± 0.053 mg kg^?1 of wet mass for Cd, As, Hg and Pb, respectively. Significant differences were established between groups of predatory fish and non-predatory fish for Hg and Pb, and between control and contaminated sites in the whole selection and also within feeding guilds, i.e. the values of Hg in the benthophagic fish were significantly different between these sites. Finally, these results were also compared for each species with previous French and European studies.     

Pluri-annual study of the reproduction of two Mediterranean Oscarella species (Porifera, Homoscleromorpha): cycle, sex-ratio, reproductive effort and phenology

This study presents the phenology of two common Mediterranean sponges belonging to the genus Oscarella (Porifera, Homoscleromorpha). Oscarella tuberculata and Oscarella lobularis are two sibling species, dwellers of shallow benthic communities which tend to have distinct ecological behavior, respectively, euryecious and rather stenoecious. The comparative study of their reproductive cycle showed that both Oscarella species have a seasonal reproductive cycle with a successive phase duration differing from one species to another. In both species, there is a continuous oogenesis, with new oocytes appearing in spring, whereas the spermatogenesis generally starts later with the early warming of the sea. The embryonic development and the larval release are restricted to the warmest months of the year. We also observed a shift in the period of gametogenesis and larval emission depending on species and differences in their sensitivity to changes in thermal regime. It appears that an increase in seawater temperature can affect sex determination, with mainly a shift toward males in both species. Their reproductive efforts are variable in time, and can be in some cases influenced by the temperature regime. This is especially the case of O. lobularis which seems to be the most thermosensitive, its phenology responding significantly to changes in thermal regime, whereas O. tuberculata seems to be less sensitive and/or reactive. By detecting phenological changes among sponges, this study demonstrated the relevance of such monitoring to assess the possible biological response to climate change.     

Distinct diversity of the czcA gene in two sedimentary horizons from a contaminated estuarine core

In estuarine ecosystems, trace metals are mainly associated with fine grain sediments which settle on mudflats. Over time, the layers of sediments accumulate and are then transformed by diagenetic processes, recording the history of the estuary’s chemical contamination. In such a specific environment, we investigated to what extent a chronic exposure to contaminants could affect metal-resistant sedimentary bacteria in subsurface sediments. The occurrence and diversity of cadmium resistance genes (cadA, czcA) was investigated in 5- and 33-year-old sediments from a highly contaminated estuary (Seine France). Primers were designed to detect a 252-bp fragment of the czcA gene, specifically targeting a transmembrane helice domain (TMH IV) involved in the proton substrate antiport of this efflux pump. Although the cadA gene was not detected, the highest diversity of the sequence of the czcA gene was observed in the 5-year-old sediment. According to the percentage of identity at the amino acid level, the closest CzcA relatives were identified among Proteobacteria (α, β, γ, and δ), Verrucomicrobia, Nitrospirae, and Bacteroidetes. The most abundant sequences were affiliated with Stenotrophomonas. In contrast, in the 33-year-old sediment, CzcA sequences were mainly related to Rhodanobacter thiooxydans and Stenotrophomonas, suggesting a shaping of the metal-resistant microbial communities over time by both diagenetic processes and trace metal contamination.