Identification of common genetic risk variants for autism spectrum disorder

Autism spectrum disorder (ASD) is a highly heritable and heterogeneous group of neurodevelopmental phenotypes diagnosed in more than 1% of children. Common genetic variants contribute substantially to ASD susceptibility, but to date no individual variants have been robustly associated with ASD. With a marked sample-size increase from a unique Danish population resource, we report a genome-wide association meta-analysis of 18,381 individuals with ASD and 27,969 controls that identified five genome-wide-significant loci. Leveraging GWAS results from three phenotypes with significantly overlapping genetic architectures (schizophrenia, major depression, and educational attainment), we identified seven additional loci shared with other traits at equally strict significance levels. Dissecting the polygenic architecture, we found both quantitative and qualitative polygenic heterogeneity across ASD subtypes. These results highlight biological insights, particularly relating to neuronal function and corticogenesis, and establish that GWAS performed at scale will be much more productive in the near term in ASD.Peer reviewe

Evaluation of the antinociceptive and anti-inflammatory effects of the acetone extract from Anacardium occidentale L

The stem bark of Anacardium occidentale L. (Anacardiaceae), commonly called cashew, is used in Brazilian traditional medicine for the treatment of gastric and inflammatory disorders. The present study was carried out to investigate the in vivo anti-inflammatory activities of the acetone extract (AE) of the stem bark of A. occidentale. We evaluated the pharmacological activities of this plant material through the analgesic, antiedematogenic and chemotaxic inhibitory effects produced by the AE. The oral administration (p.o.) of mice with the AE (0.1, 0.3 and 1.0 g/kg) or positive control indomethacin (10 mg/kg) inhibited acetic acid-induced writhing by 18.9, 35.9, 62.9 and 68.9%, respectively (ID50% = 530 mg/kg). The highest dose of the AE was able to inhibit croton oil-induced ear edema formation by 56.8% (indomethacin at 10 mg/kg, p.o. - 57.6% inhibition). When submitted to the carrageenan-induced peritonitis test, the AE (0.1, 0.3 and 1.0 g/kg, p.o.) impaired leukocyte migration into the peritoneal cavity by 24.8, 40.5 and 49.6%, respectively. The positive control, dexamethasone (2 mg/kg, s.c.), inhibited leukocyte migration by 66.9%. These results indicate the presence of anti-inflammatory and antinociceptive principles in the acetone extract of Anacardium occidentale, and reinforce the plant's potential therapeutic use against pain and inflammatory diseases.As cascas do caule do Anacardium occidentale L. (Anacardiaceae), conhecido como cajueiro, são popularmente utilizadas no Brasil para o tratamento de doenças gástricas e inflamatórias. Este estudo teve como objetivo a avaliação farmacológica in vivo da atividade antiinflamatória do extrato acetônico (AE) obtido das cascas do A. occidentale, investigando os efeitos analgésico, antiedematogênico e inibitório sobre a quimiotaxia deste material botânico. A administração oral (p.o.) em camundongos com o AE (0,1; 0,3 e 1 g/kg) ou o controle positivo indometacina (10 mg/kg) inibiu as contorções abdominais induzidas pelo ácido acético em 18,9; 35,9; 62,9 e 68,9% respectivamente (ID50% = 530 mg/kg). Esta maior dose do AE também inibiu o edema de orelha produzido pelo óleo de cróton em 56,8% (indometacina, 10 mg/kg, p.o. - 57,6% de inibição). No teste da peritonite induzido pela carragenina, o AE (0,1; 0,3; e 1,0 mg/kg, p.o.) reduziu a migração de leucócitos para a cavidade peritoneal em 24,8; 40,5; e 49,6% respectivamente, enquanto que o controle positivo dexametasona (2 mg/kg, s.c.) inibiu a migração de leucócitos em 66,9%. Estes resultados indicam a presença de princípios ativos antiinflamatórios e antinociceptivos no extrato acetônico de Anacardium occidentale e reforçam o potencial terapêutico da planta em doenças que envolvem dor e inflamação

Polyols and rigid polyurethane foams derived from lignin side-streams of the pulp and paper industry

Lignin is one of the major components of the side-streams of the pulp and paper industries and of the emerging lignocellulosic biore neries. Find new strategies for lignin valorisation, apart from e vironmental issues, will contribute to close the lignocellulosic value-chain. In this context, this work will focus on the synthesis of polyols through oxypropylation and their subsequent incorporation into rigid polyurethane (RPU) foam formulations. Two E. globulus lignin streams were tested: (i) lignin isolated from industrial kraft liquor and (ii) depolymerized lignin resulting from an oxidation process developed at the LA LSRE-LCM to produce vanillin and syringaldehyde. This work is therefore part of the LA LSRE-LCM global strategy towards the consolidation of the integrated process to valorise lignin from the kraft pulp industry, which accounts with more than 25 years of experience.info:eu-repo/semantics/publishedVersio

Morphological analysis of polymers on hair fibers by SEM and AFM

The polyquaternium 7® polymer is widely used in cosmetic formulations. Morphologic alterations in hair fibers were observed after the application of the polyquaternium 7® polymer, using SEM and AFM. Continuous applications of this product indicated that it accumulates on the fibers, improving the aspect of the hair surface. Quantitative analysis of the images obtained by AFM was undertaken. The data obtained for the hair surface roughness indicates that the fibers treated with the polymer presented higher roughness than the untreated hair fibers