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.     

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.     

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.     

Creation of the natural reserve of La Crau: implications for the creation and management of protected areas

Grasslands were once widespread and species-rich ecosystems. They have drastically decreased throughout the world, largely due to changes in land-uses. Remnant grasslands are often highly degraded and disconnected and require active conservation. In order for grasslands to be maintained worldwide, protected areas need to be created. While adequately creating and managing protected areas has proven difficult, this can be improved by following a three-point guideline: (1) consider many ecological groups (birds, insects, plants); (2) use conservation biology knowledge; (3) seek agreements with concerned parties by comprehending elements of economy, politics and sociology. Based on the example of La Crau, a steppe area in South-eastern France, this review aims at (i) illustrating that this guideline can facilitate creating and managing protected areas and (ii) proposing improvement to the guideline while keeping it simple. In La Crau, the need for conservation was first acknowledged in 1975. Between 1983, when a request for a protection decree was made and 1990, when the first concrete protection measure was taken, 20% of the steppe disappeared. It took another 8 years to reach a concerted management plan in 1998. The review shows how using ecological guidelines would have helped better and faster protection of the steppe. Improvements to the guideline drawn from the La Crau experience include: the protection of some traditional practices; the protection of some degraded habitats that can substitute for habitats that no longer exist; the restoration of degraded habitats that do not qualify for protection; and the flexibility of the management plan.     

Mobility of Cd and Cu in formulated sediments coated with iron hydroxides and/or humic acids: a DGT and DGT-PROFS modeling approach

The diffusive gradients technique in thin films (DGT) was used to investigate the kinetic resupply of Cd and Cu to pore water from the solid phase. For the sake of simplification, experiments were performed using formulated sediments that differed in the presence or absence of humic acids (HA) and/or of iron hydroxides (i.e., goethite and ferrihydrite). The effects of the time after the contamination of the solid phase (aging effect) on formulated sediments that were coated with goethite and HA and spiked with Cd were also evaluated. Kinetic DGT results were interpreted using the newly developed, multi-compartmental model DGT-PROFS.Due to Cu humate formation, the addition of HA slightly increased the Cu concentration in the pore water independent of the effect of the iron hydroxide coating on the formulated sediments and slightly decreased that of Cd. The impact of 8-190 d of aging resulted in a significant decrease in the Cd concentration of the pore water over an increasing incubation time.Modeling our results with DGT-PROFS led to the following conclusions concerning the impact of HA and iron hydroxides on Cd and Cu availability. First, in the presence of HA and absence of iron hydroxides, Cd is associated mainly with weak sites, while Cu is bound to strong sites. Similarly, in the presence of both iron hydroxides and HA, Cu appeared to be more heavily associated with the strong sites than did Cd. When the incubation time increased from 8 to 190 d, a proportion of Cd initially adsorbed onto weak sites transferred to the strong sites, suggesting that the adsorption of Cd on sediments is controlled partially by slow kinetic processes.     

Non-conventional gas phase remediation of volatile halogenated compounds by dehydrated bacteria

Traditional biological removal processes are limited by the low solubility of halogenated compounds in aqueous media. A new technology appears very suitable for the remediation of these volatile organic compounds (VOCs). Solid/gas bio-catalysis applied in VOC remediation can transform halogenated compounds directly in the gas phase using dehydrated cells as a bio-catalyst.     

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.     

Antibiotic resistant bacteria/genes dissemination in lacustrine sediments highly increased following cultural eutrophication of Lake Geneva (Switzerland)

This study investigates faecal indicator bacteria (FIB), multiple antibiotic resistant (MAR), and antibiotic resistance genes (ARGs), of sediment profiles from different parts of Lake Geneva (Switzerland) over the last decades. MARs consist to expose culturable Escherichia coli (EC) and Enterococcus (ENT) to mixed five antibiotics including Ampicillin, Tetracycline, Amoxicillin, Chloramphenicol and Erythromycin. Culture-independent is performed to assess the distribution of ARGs responsible for, β-lactams (blaTEM; Amoxicillin/Ampicillin), Streptomycin/Spectinomycin (aadA), Tetracycline (tet) Chloramphenicol (cmlA) and Vancomycin (van). Bacterial cultures reveal that in the sediments deposited following eutrophication of Lake Geneva in the 1970s, the percentage of MARs to five antibiotics varied from 0.12% to 4.6% and 0.016% to 11.6% of total culturable EC and ENT, respectively. In these organic-rich bacteria-contaminated sediments, the blaTEM resistant of FIB varied from 22% to 48% and 16% to 37% for EC and ENT respectively, whereas the positive PCR assays responsible for tested ARGs were observed for EC, ENT, and total DNA from all samples. The aadA resistance gene was amplified for all the sediment samples, including those not influenced by WWTP effluent water. Our results demonstrate that bacteria MARs and ARGs highly increased in the sediments contaminated with WWTP effluent following the cultural eutrophication of Lake Geneva. Hence, the human-induced changing limnological conditions highly enhanced the sediment microbial activity, and therein the spreading of antibiotic resistant bacteria and genes in this aquatic environment used to supply drinking water in a highly populated area. Furthermore, the presence of the antibiotic resistance gene aadA in all the studied samples points out a regional dissemination of this emerging contaminant in freshwater sediments since at least the late nineteenth century.