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.     

Will Evolving Climate Conditions Increase the Risk of Floods of the Large U.S.‐Canada Transboundary Richelieu River Basin?

In spring 2011, an unprecedented flood hit the complex eastern United States (U.S.)–Canada transboundary Lake Champlain–Richelieu River (LCRR) Basin, destructing properties and inducing negative impacts on agriculture and fish habitats. The damages, covered by the Governments of Canada and the U.S., were estimated to C$90M. This natural disaster motivated the study of mitigation measures to prevent such disasters from reoccurring. When evaluating flood risks, long‐term evolving climate change should be taken into account to adopt mitigation measures that will remain relevant in the future. To assess the impacts of climate change on flood risks of the LCRR basin, three bias‐corrected multi‐resolution ensembles of climate projections for two greenhouse gas concentration scenarios were used to force a state‐of‐the‐art, high‐resolution, distributed hydrological model. The analysis of the hydrological simulations indicates that the 20‐year return period flood (corresponding to a medium flood) should decrease between 8% and 35% for the end of the 21st Century (2070–2099) time horizon and for the high‐emission scenario representative concentration pathway (RCP) 8.5. The reduction in flood risks is explained by a decrease in snow accumulation and an increase in evapotranspiration expected with the future warming of the region. Nevertheless, due to the large climate inter‐annual variability, short‐term flood probabilities should remain similar to those experienced in the recent past.     

Fetal cerebral hemorrhage due to X-linked GATA1 gene mutation

We report a multiplex family with a GATA1 gene mutation responsible for a massive fetal cerebral hemorrhage occurring at 36 weeks. Two other stillbirth cousins presented with fetal hydrops and congenital hemochromatosis' phenotype at 37 and 12 weeks of gestation. Molecular screening revealed the presence of a c.613G>A pathogenic allelic variation in exon 4 of GATA1 gene in the 3 male siblings and their carrier mothers. The diagnosis of a GATA1 gene mutation may be suspected in cases of male fetuses with intracerebral bleeding, particularly if a history of prior fetal loss(es) and mild maternal thrombocytopenia are also present.     

Prospective maternal serum human chorionic gonadotropin screening for the risk of fetal chromosome anomalies and of subsequent fetal and neonatal deaths

A prospective study of maternal serum human chorionic gonadotrophin (hCG) measurement for the selection of pregnancies with an increased risk of fetal trisomy 21 was undertaken in 24 000 pregnancies from 1 January 1989 to 31 December 1990. Maternal serum was sampled at 15-18 weeks of gestation. hCG was measured in one laboratory, with one technique. This ‘hCG high level’ technique was developed for this screening. Amniocentesis was offered to each woman with a maternal serum hCG level above the cut-off. The follow-up of the pregnancies is known in 92 per cent of cases. The combination of hCG values and maternal age gave a detection efficiency of 63 per cent for trisomy 21 with rates of amniocentesis of 30 per cent for patients aged 37 years, 20 per cent for patients aged 35 or 36 years, and 5 per cent for patients under 35 years of age. Based on this prospective study, an individual risk was calculated combining the serum hCG value and maternal age. Seventy-four per cent of trisomy 13, trisomy 18, triploidy, and 5p- deletion were detected either in the same selected group of women or in combination with ultrasonography performed when hCG values were very low. The follow-up study showed that women who had high or low hCG values represented a group at high risk for fetal or perinatal death.     

Ecological Engineering Practices for the Reduction of Excess Nitrogen in Human-Influenced Landscapes: A Guide for Watershed Managers

Excess nitrogen (N) in freshwater systems, estuaries, and coastal areas has well-documented deleterious effects on ecosystems. Ecological engineering practices (EEPs) may be effective at decreasing nonpoint source N leaching to surface and groundwater. However, few studies have synthesized current knowledge about the functioning principles, performance, and cost of common EEPs used to mitigate N pollution at the watershed scale. Our review describes seven EEPs known to decrease N to help watershed managers select the most effective techniques from among the following approaches: advanced-treatment septic systems, low-impact development (LID) structures, permeable reactive barriers, treatment wetlands, riparian buffers, artificial lakes and reservoirs, and stream restoration. Our results show a broad range of N-removal effectiveness but suggest that all techniques could be optimized for N removal by promoting and sustaining conditions conducive to biological transformations (e.g., denitrification). Generally, N-removal efficiency is particularly affected by hydraulic residence time, organic carbon availability, and establishment of anaerobic conditions. There remains a critical need for systematic empirical studies documenting N-removal efficiency among EEPs and potential environmental and economic tradeoffs associated with the widespread use of these techniques. Under current trajectories of N inputs, land use, and climate change, ecological engineering alone may be insufficient to manage N in many watersheds, suggesting that N-pollution source prevention remains a critical need. Improved understanding of N-removal effectiveness and modeling efforts will be critical in building decision support tools to help guide the selection and application of best EEPs for N management.     

Use of a Hydrogen Peroxide Nebulizer for Viral Disinfection of Emergency Ambulance and Hospital Waiting Room

Food and Environmental Virology - Disinfection of hospital facilities and ambulances is an important issue for breaking the chain of transmission of viral pathogens. Hydrogen peroxide has provided...