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.     

Role of the floodplain lakes in the methylmercury distribution and exchanges with the Amazon River, Brazil

Seasonal variability of dissolved and particulate methylmercury(F-MeHg, P-MeHg) concentrations was studied in the waters of the Amazon River and its associated Curuai floodplain during hydrological year 2005–2006, to understand the MeHg exchanges between these aquatic systems. In the oxic white water lakes, with neutral pH, high F-MeHg and P-MeHg concentrations were measured during the rising water stage(0.70 ± 0.37 pmol/L, n = 26) and flood peak(14.19 ± 9.32 pmol/g, n = 7) respectively, when the Amazon River water discharge into the lakes was at its maximum. The lowest mean values were reported during the dry season(0.18 ± 0.07 pmol/L F-MeHg, n = 10 and 1.35 ± 1.24 pmol/g P-MeHg, n = 8), when water and suspended sediments were outflowing from the lakes into the River. In these lakes,the MeHg concentrations were associated to the aluminium and organic carbon/nitrogen changes. In the black water lakes, with acidic pH and reducing conditions, elevated MeHg concentrations were recorded(0.58 ± 0.32 pmol/L F-MeHg, n = 16 and 19.82 ± 15.13 pmol/g PMeHg, n = 6), and correlated with the organic carbon and manganese concentrations. Elevated values of MeHg partition coefficient(4.87 Kd 5.08 log(L/kg) indicate that MeHg is mainly transported associated with the particulate phase. The P-MeHg enrichment detected in all lakes suggests autochthonous MeHg inputs from the sediments into the water column. The MeHg mass balance showed that the Curuai floodplain is not the source of P-MeHg for the Amazon River.     

MATERNAL SERUM ALPHA-FETOPROTEIN SCREENING FOR OPEN NEURAL TUBE DEFECTS IN TWIN PREGNANCIES

Data on maternal serum alpha-fetoprotein (AFP) levels at 13–24 weeks' gestation in 46 twin pregnancies with open neural tube defects (22 with anencephaly, 24 with open spina bifida) and 169 unaffected twins were used to estimate the detection and false-positive rates associated with different cut-off levels. Using the conventional cut-off level of 2·5 multiples of the median (MoM) for unaffected singleton pregnancies of the same gestation and laboratory, the detection rate in twins was 99 per cent for anencephaly and 89 per cent for open spina bifida, with a false-positive rate of 30 per cent. Using a 5·0 MoM cut-off level to maintain a similar false-positive rate to that found among singleton pregnancies at 16–18 weeks' gestation (about 3 per cent), the detection rate was 83 per cent for anencephaly and 39 per cent for open spina bifida. Estimates are provided of the odds of having an affected twin pregnancy given a positive AFP result as well as the odds for individual women with a raised AFP level.     

Report on the fifth meeting of INRA’s national network of ecotoxicologists,ECOTOX

The fifth meeting of INRA’s national network of ecotoxicologists took place on 25 to 27 November 2014 in Biarritz, France. The main aim of the meeting was to bring together ecotoxicologists from INRA and associated partners, providing them ample opportunity to share and discuss their latest scientific results as well as the national policy of research in ecotoxicology and to precise perspectives for the network.     

Fine-scale spatial patterns of the Tertiary relict Zelkova abelicea (Ulmaceae) indicate possible processes contributing to its persistence to climate changes

In this paper, the fine-scale spatial patterns of the Tertiary relict Zelkova abelicea (Lam.) Boiss. were studied (1) to reveal processes that contributed to its persistence to climate changes and (2) to assist future conservation planning, with the purpose of shifting the attention of conservation practitioners from patterns to processes. Results of the fine-scale spatial patterns of Z. abelicea indicate that the species tolerates disturbance and/or tracks changes resulting from disturbance in the range of its distribution through morphological and reproductive plasticity. In addition, our study indicates that Z. abelicea populations are conserved in the absence of metapopulation structure and that the species participates in plant–plant interactions through facilitation processes. Hence, the persistence of the species to climate changes seems to be more complicated and multifactorial than a linear and plain view of species survival in climate refugial areas, and therefore calls for a consideration of the processes revealed in this paper in future conservation planning.     

Protection from metal toxicity by Hsp40-like protein isolated from contaminated soil using functional metagenomic approach

Environmental Science and Pollution Research - Pollution in the environment due to accumulation of potentially toxic metals results in deterioration of soil and water quality, thus impacting health...     

Kinetics of the tropospheric formaldehyde loss onto mineral dust and urban surfaces

The kinetics of the heterogeneous reaction between gaseous HCHO and TiO₂/SiO₂ mineral coatings were investigated using a coated-wall flow tube to mimic HCHO loss on mineral aerosol and TiO₂ coated depolluting urban surfaces. The measured uptake kinetics were strongly enhanced when the flow tube was irradiated with 340–420 nm UV light with an irradiance of 1.45 mW cm^?2. The associated BET uptake coefficients ranged from (3.00 ± 0.45) × 10^?9 to (2.26 ± 0.34) × 10^?6 and were strongly dependent on HCHO initial concentration, relative humidity, temperature, and TiO₂ content in the mineral coating, which ranged from 3.5 to 32.5 ppbv, 6–70%, 278–303 K, and 1–100 %wt, respectively. The measured kinetics were well described using a Langmuir–Hinshelwood type formalism. The estimated uptake coefficients were used to discuss the importance of heterogeneous HCHO surface loss, in terms of deposition lifetimes, as compared to major homogeneous gas-phase losses such as OH reaction and photolysis. It is found that deposition may compete with gas-phase removal of HCHO in a dense urban environment if more than 10% of the urban surface is covered with TiO₂ treated material.     

Improving the knowledge of pesticide and nitrate transfer processes using age-dating tools (CFC, SF6, H) in a volcanic island (Martinique, French West Indies)

Numerous successful examples of CFC and SF₆ groundwater dating applications were recently published. However the proposed CFC/SF₆ method needs various hydrodynamic parameters that are not always available. In order to predict groundwater-quality trends in areas where the hydrogeological context is poorly known, a dating method using tritium, CFC and SF₆ was successfully implemented in Martinique. Hydrogeological understanding is limited in this volcanic island where groundwater contamination by pesticides and nitrate has been recently proven in various areas. A negative correlation was observed between nitrate concentrations and groundwater ages while pesticide contamination showed a more complex schema. Consequently the presence of old groundwater clearly explained the absence or low pesticide and nitrate concentrations in some areas. However a possible degradation of the water quality is to be feared in the future. In view of the relatively long transfer times and the complexity of the remobilization processes of solutes, the expected effects of any modifications in the use of fertilizers, or of changes in pesticide-use legislation, would take a long time to become apparent.