Prenatal molecular diagnosis in RASA1-related disease

RASA1-related disease is a rare autosomal dominant disease characterized by capillary malformations, arteriovenous malformations (AVMs), and/or arteriovenous fistulas (AFVs). Penetrance is nearly complete and vascular malformations may cause serious complications such as organ injury due to oxygenation disorder, brain abscess, hemorrhage, and stroke. Early diagnosis is useful in order to discuss optimal management, including AVMs/AVFs embolization or surgical procedures, and try to prevent some of the complications. In this context, molecular testing of RASA1 gene mutation in relatives may help to better manage the family. All arteriovenous malformations are however not accessible to such procedures. In addition, these therapeutic procedures may result in potential side effects and complications. A couple was referred to our genetics unit and asked us for prenatal genetic testing about a RASA1 mutation. Here, we discuss about arguments that led our team to accept prenatal testing. To the best of our knowledge, no molecular prenatal diagnosis was reported until now in RASA1-related diseases. This first report of prenatal diagnosis in RASA1-related diseases may also offer perspectives for a more general discussion in the field of inherited arteriovenous malformations.     

Impact of global warming on European tidal estuaries: some evidence of northward migration of estuarine fish species

The aim of this study was to determine whether the latitudinal distribution of fish species that use estuaries to complete their entire life cycle has shifted northward as an expected consequence of global warming. The mean latitude of past fish species distributions found in 1970s’ literature was compared with the mean latitude of distributions today based on fish density indices collected in 55 tidal estuaries along the Atlantic European seaboard, from Portugal to Scotland. Among the 15 most common species, 11 displayed a positive difference between current and past mean latitudes suggesting a northward shift of the populations. Using the occurrence of subtropical species in temperate areas as an indicator of water warming, the northernmost range limit of 10 subtropical species was subsequently focused on. Six of them were recorded up to their past northern latitudinal limit. These results reinforced the idea that a number of fish species associated to estuaries have migrated northwards over the last 30 years, possibly due to water warming. These ecological changes can get important managerial implications, i.e. in the assessment of the ecological status in European directives.     

Sulfate,chloride and fluoride retention in Andosols exposed to volcanic acid emissions

The continuous emissions of SO(2), HCl and HF by Masaya volcano, Nicaragua, represent a substantial source of atmospheric S-, Cl- and F-containing acid inputs for local ecosystems. We report on the effects of such acid depositions on the sulfate, chloride and fluoride contents in soils (0-40 cm) from two distinct transects located downwind from the volcano. The first transect corresponds to relatively undifferentiated Vitric Andosols, and the second transect to more weathered Eutric Andosols. These soils are exposed to various rates of volcanogenic acid addition, with the Vitric sites being generally more affected. Prolonged acid inputs have led to a general pH decrease and reduced exchangeable base cation concentrations in the Andosols. The concentrations of 0.5 M NH(4)F- and 0.016 M KH(2)PO(4)-extractable sulfate (NH(4)F-S and KH(2)PO(4)-S, respectively) indicate that volcanic S addition has increased the inorganic sulfate content of the Vitric and Eutric soils at all depths. In this process, the rate of sulfate accumulation is also dependent on soil allophane contents. For all soils, NH(4)F extracted systematically more (up to 40 times) sulfate than KH(2)PO(4). This difference suggests sulfate incorporation into an aluminum hydroxy sulfate phase, whose contribution to total inorganic sulfate in the Vitric and Eutric Andosols is estimated from approximately 34 to 95% and approximately 65 to 98%, respectively. The distribution of KH(2)PO(4)-extractable chloride in the Vitric and Eutric Andosols exposed to volcanic Cl inputs reveals that added chloride readily migrates through the soil profiles. In contrast, reaction of fluoride with Al and Fe oxyhydroxides and allophanes is an important sink mechanism in the Masaya Andosols exposed to airborne volcanic F. Fluoride dominates the anion distribution in all soil horizons, although F is the least concentrated element in the volcanic emissions and depositions. The soil anion distribution reflects preferential retention of fluoride over sulfate and chloride, and of sulfate over chloride. The primary acidifying agent of the Andosols subject to the volcanic acid inputs is HCl.     

A multiresidue method for the analysis of phenols and nitrophenols in the atmosphere

A method using GC-MS and derivatization with N-(t-butyldimethylsilyl)-N-methyltrifluoroacetamide (MTBSTFA) was developed for the analysis of 20 phenolic compounds in atmospheric samples (gas and particles). Air sampling was carried out using a Hi-Vol sampler with glass fibre filter and XAD-2 resin at a flow rate of 60 m(3) h(-1). The particle and gas phases were collected separately over a period of 4 h. Samples were Soxhlet extracted, evaporated to dryness under nitrogen and refilled with acetonitrile. 100 microl of these extracts were derivatized with 100 microl of MTBSTFA at 80 degrees C for 1 h under strong stirring. Phenolic compounds were injected into a GC-MS in splitless mode and quantified as their TBDMS derivatives in the SIM mode. Mass spectral analysis of the derivatives of the 20 compounds studied indicates that the spectra are highly specific showing an ion at [M - 57]+ which is useful for structure confirmation or analysis at low levels using selected ion monitoring. Quantification limits varied between 5 microg l(-1) and 10 microg l(-1) which correspond to 20 pg m(-3) and 40 pg m(-3) for 250 m(3) of air sampled. This method was successfully applied to atmospheric samples.     

Radiostrontium-90 (90Sr) Ultra-Traces Measurements by Coupling Ionic Chromatography (HPIC) and on Line Liquid Scintillation Counting (OLLSC)

The important role of the beta emitter Strontium-90 in our environmental has been studied since the nuclear age. This long half-life isotope (28.1 years) is produced in a relatively high yield (5.8 % from Uranium-235) during the fission of heavy elements. It has been reported to be the major artificial source of internal irradiation of the human body. Its valence shell electron configuration is the same as Calcium and so this isotope is easily fixed in the bones. The classical analysis of this particular isotope requires several weeks since it produces Yttrium-90 which is also a beta emitter. We developed a new trace analysis method by coupling High Performance Ionic Chromatography (HPIC), to separate Strontium-90 from natural or power plant reactor water, and on-line liquid scintillation counting detector, measuring the beta emission of low concentration Strontium-90 before Yttrium-90 is formed in a significant amount. We report here some analysis parameters : HPIC setup, scintillation cocktail, window, counting efficiency, linearity, pre-concentration and detection limits. We were able to determine very low concentrations of Strontium-90. The minimum concentration detected without a pre-concentration system was 0.5 ppt from a 200 µL sample (6.3×10-12 mole/L). The analysis only requires a few hours.