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.     

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.     

Review of ozone and temperature lidar validations performed within the framework of the Network for the Detection of Stratospheric Change

The use of assimilation tools for satellite validation requires true estimates of the accuracy of the reference data. Since its inception, the Network for Detection of Stratospheric Change (NDSC) has provided systematic lidar measurements of ozone and temperature at several places around the world that are well adapted for satellite validations. Regular exercises have been organised to ensure the data quality at each individual site. These exercises can be separated into three categories: large scale intercomparisons using multiple instruments, including a mobile lidar; using satellite observations as a geographic transfer standards to compare measurements at different sites; and comparative investigations of the analysis software. NDSC is a research network, so each system has its own history, design, and analysis, and has participated differently in validation campaigns. There are still some technological differences that may explain different accuracies. However, the comparison campaigns performed over the last decade have always proved to be very helpful in improving the measurements. To date, more efforts have been devoted to characterising ozone measurements than to temperature observations. The synthesis of the published works shows that the network can potentially be considered as homogeneous within +/-2% between 20-35 km for ozone and +/-1 K between 35-60 km for temperature. Outside this altitude range, larger biases are reported and more efforts are required. In the lower stratosphere, Raman channels seem to improve comparisons but such capabilities were not systematically compared. At the top of the profiles, more investigations on analysis methodologies are still probably needed. SAGE II and GOMOS appear to be excellent tools for future ozone lidar validations but need to be better coordinated and take more advantage of assimilation tools. Also, temperature validations face major difficulties caused by atmospheric tides and therefore require intercomparisons with the mobile systems, at all sites.