Mapping autism risk loci using genetic linkage and chromosomal rearrangements.

International audienceAutism spectrum disorders (ASDs) are common, heritable neurodevelopmental conditions. The genetic architecture of ASDs is complex, requiring large samples to overcome heterogeneity. Here we broaden coverage and sample size relative to other studies of ASDs by using Affymetrix 10K SNP arrays and 1,181 [corrected] families with at least two affected individuals, performing the largest linkage scan to date while also analyzing copy number variation in these families. Linkage and copy number variation analyses implicate chromosome 11p12-p13 and neurexins, respectively, among other candidate loci. Neurexins team with previously implicated neuroligins for glutamatergic synaptogenesis, highlighting glutamate-related genes as promising candidates for contributing to ASDs

Evaluation of phytotoxicity of municipal landfill leachate before and after biological treatment

In the present study, leachate toxicity of a municipal solid waste landfill located in the Sinos River Valley region (southern Brazil) was evaluated using plant bioassays. Leachate toxicity was assessed by analysis of seed germination and root elongation of lettuce (Lactuca sativa L.) and rocket plant (Eruca sativa Mill.) and root elongation of onions (Allium cepa L.). Bioassays were performed by exposing the seeds of L. sativa and E. sativa and the roots of A. cepa to raw leachate, treated leachate (biological treatment) and negative control (tap water). The levels of metals detected in both samples of leachate were low, and raw leachate showed high values for ammoniacal nitrogen and total Kjeldahl nitrogen. There is a reduction in the values of several physicochemical parameters, which demonstrates the efficiency of the treatment. Both L. sativa and A. cepashowed a phytotoxic response to landfill leachate, showing reduced root elongation. However, the responses of these two plant species were different. Root elongation was significantly lower in A. cepa exposed to treated leachate, when compared to negative control, but did not show any difference when compared to raw leachate. In L. sativa, seeds exposed to the raw leachate showed significant reduction in root elongation, when compared to treated leachate and negative control. Seed germination showed no difference across the treatments. The results of the study show that plant species respond differently and that municipal solid waste landfill leachate show phytotoxicity, even after biological treatment.</p

Evaluation of water quality at the source of streams of the Sinos River Basin, southern Brazil

The Sinos River Basin (SRB) is located in the northeastern region of the state of Rio Grande do Sul (29º20' to 30º10'S and 50º15' to 51º20'W), southern Brazil, and covers two geomorphologic provinces: the southern plateau and the central depression. It is part of the Guaíba basin, has an area of approximately 800 km2 and contains 32 counties. The basin provides drinking water for 1.6 million inhabitants in one of the most important industrial centres in Brazil. This study describes different water quality indices (WQI) used for the sub-basins of three important streams in the SRB: Pampa, Estância Velha/Portão and Schmidt streams. Physical, chemical and microbiological parameters assessed bimonthly using samples collected at each stream source were used to calculate the Horton Index (HI), the Dinius Index (DI) and the water quality index adopted by the US National Sanitation Foundation (NSF WQI) in the additive and multiplicative forms. These indices describe mean water quality levels at the streams sources. The results obtained for these 3 indexes showed a worrying scenario in which water quality has already been negatively affected at the sites where three important sub-basins in the Sinos River Basin begin to form.</p

A multibiomarker approach in rats to assess the impact of pollution on Sinos River, Southern Brazil

The aim of this study was to determine the feasibility of combining water quality analysis with different biomarkers to characterise the relationship between anthropogenic contamination and biotic response in the Sinos River, southern Brazil. Wistar rats were studied using three biomarkers combined with physical, chemical and microbiological analysis to assess the effects of pollution at four sampling sites. The induction of oxidative stress was quantified by MDA levels in peripheral blood, lymphocyte DNA damage was determined using the comet assay, and histopathological changes were analysed in the liver. After sampling, animals were allowed to drink the river water during a 48 hours period. No increase in oxidative stress and DNA damage was observed. However, liver damage was observed in the animals exposed to water samples, indicating that the Sinos River is contaminated with hepatotoxic substances. Water analyses confirmed that water quality decreased downriver

Het gebruik van connectieven door Franstalige leerders van het Nederlands: een eerste verkenning

peer reviewe