Odorant Receptor (Or) genes: polymorphism and divergence in the D. melanogaster and D. pseudoobscura Lineages

Background: In insects, like in most invertebrates, olfaction is the principal sensory modality, which provides animals with essential information for survival and reproduction. Odorant receptors are involved in this response, mediating interactions between an individual and its environment, as well as between individuals of the same or different species. The adaptive importance of odorant receptors renders them good candidates for having their variation shaped by natural selection. Methodology/Principal Findings: We analyzed nucleotide variation in a subset of eight Or genes located on the 3L chromosomal arm of Drosophila melanogaster in a derived population of this species and also in a population of Drosophila pseudoobscura. Some heterogeneity in the silent polymorphism to divergence ratio was detected in the D. melanogaster/D. simulans comparison, with a single gene (Or67b) contributing ~37% to the test statistic. However, no other signals of a very recent selective event were detected at this gene. In contrast, at the speciation timescale, the MK test uncovered the footprint of positive selection driving the evolution of two of the encoded proteins in both D. melanogaster ¿OR65c and OR67a ¿and D. pseudoobscura ¿OR65b1 and OR67c. Conclusions: The powerful polymorphism/divergence approach provided evidence for adaptive evolution at a rather high proportion of the Or genes studied after relatively recent speciation events. It did not provide, however, clear evidence for very recent selective events in either D. melanogaster or D. pseudoobscura

Autism community perspectives on autism research

Dada a sua elevada prevalência global (cerca de 1 em 100), gravidade e complexidade etiológica, o autismo é hoje uma importante área de investigação. O presente trabalho teve como objetivo compreender quais as preocupações éticas, perspetivas e expetativas de pais e profissionais da saúde e educadores ligados ao autismo, no que diz respeito à investigação desta patologia. O trabalho foi desenvolvido no âmbito de uma rede de investigação europeia sobre sinais precoces de autismo. Em paralelo em vários países da Europa, foram identificados os tópicos de maior interesse para pais e profissionais através de grupos de foco, na sequência dos quais se elaborou um inquérito online que foi distribuído por esta comunidade ligada ao autismo. Em Portugal, os inquiridos (n=331) mostraram um interesse global pela investigação em autismo, nomeadamente sobre as bases genéticas e sobre sinais precoces de autismo. Relativamente aos benefícios resultantes da participação em projetos de investigação, os pais privilegiaram o acesso a intervenção e a formação pessoal, enquanto que os profissionais deram mais importância ao acesso a mais conhecimento e a equipas especializadas. Os três grupos deram ênfase ao acesso à informação completa obtida durante a investigação e às conclusões gerais do estudo. Os resultados obtidos reforçam a importância da investigação do autismo, indicando também linhas claras de atuação que têm em observação as perspetivas da comunidade ligada ao autismo.Given its high global prevalence, clinical severity and etiological complexity, autism has become an impor tant research area. This work was developed within a European research network on early signs of autism, and aimed to understand the specific ethical concerns of parents and practitioners in health and education, with regard to research in autism, and understand their perspectives and expectations. Using focus groups, the topics of greatest interest for this community were identified and an online sur vey was developed and distributed to the community. Respondents in Por tugal (n = 331) showed a global interest in autism research, with special focus on autism genetics and early signs of autism. Concerning the par ticipation in research projects and its direct benefits, parents privileged access to inter vention and training, while professionals wanted access to more knowledge and specialized teams. The three groups favored access to the full information obtained from research and the general conclusions of the studies. Thus, the results reinforce the interest of parents and professionals in autism research and provide clear lines of conduct taking into account this community's perspectives and expectations

Maternal sensitivity and mother-infant attachment are associated with antibiotic uptake in infancy

Attachment security has been associated with health status and symptom reporting. In this longitudinal study, we investigated the association between antibiotics uptake by infants at 9-months and mother-infant attachment at 12-months. Logistic regression analyses indicated that lower maternal sensitivity was associated with increased odds of antibiotic uptake. Furthermore, 89.7% of insecure-ambivalent infants consumed antibiotics, which contrasted with 32.5% of avoidant infants and 21.5% of secure infants. This study suggests that maternal behavior and mother-infant attachment impact on antibiotic consumption, which is worrying because antibiotics may lead to several health problems later in life and antibiotic-resistance.info:eu-repo/semantics/publishedVersio

Relevance of Common and Rare CNVs for Autism Etiology

Recent reports by the Autism Genome Project (AGP) consortium and other groups show that Copy Number Variants (CNVs), while individually rare, collectively may explain a large fraction of the etiology of Autism Spectrum Disorders (ASD). The goal of this study was to establish the clinical and etiological relevance for ASD of potentially pathogenic CNVs identified in a Portuguese population sample by whole genome CNV analysis, through the detailed characterization of CNVs and correlation with clinical phenotypes. Analysis of the Autism Genome Project genome-wide CNV results using 1M SNP microarray1 identified a total of 14218 CNVs in 342 Portuguese probands. We selected 292 CNVs, present in 191 individuals (19 females and 172 males), using the following criteria: 1) CNVs that contained implicated/candidate genes for ASD; 2) CNVs in genomic regions known to be implicated/candidate for ASD; 3) CNVs containing genes associated with syndromes with ASD symptoms; and 4) high confidence CNVs that did not overlap more than 20% with controls in available databases. We explored recurrence rates, genic content, regulatory elements, inheritance patterns and clinical correlationsThis work was supported by the fellowships SFRH/BPD/74739/2010 to ICC, SFRH/BPD/64281/2009 to CC and SFRH/BD/79081/2011 to BO from Fundação para a Ciência e a Tecnologia (FCT; Portugal)

Phenotypic categorization of putative pathogenic CNVs in a population of Autism Spectrum Disorder patients

All individuals in this study signed an informed consent.This work was supported by the fellowships SFRH/BPD/74739/2010 to ICC, SFRH/BPD/64281/2009 to CC and SFRH/BD/79081/2011 to BO from Fundação para a Ciência e a Tecnologia (Portugal)

CNV Characterization, Inheritance and Phenotypic Correlations in Families With Autism

Autism Spectrum Disorders (ASD) have a strong genetic component, with an estimated heritability of over 90%1. Recent studies carried out by the Autism Genome Project (AGP) consortium suggest that rare Copy Number Variants (CNVs), characterized by submicroscopic chromosomal deletions and duplications, are more frequent in ASD compared to controls, and may play an important role in susceptibility to this disorder2. However, to adequately assess pathogenicity, a detailed characterization of patients CNVs and phenotype is required. The goal of this study was to establish the clinical and etiological relevance for ASD of potentially pathogenic CNVs identified in a Portuguese population sample by whole genome CNV analysis, through the detailed characterization of CNVs and correlation with clinical phenotypes. Analysis of the AGP genome-wide CNV results using 1M SNP microarray2 identified a total of 14218 CNVs in 342 Portuguese probands. We selected 291 CNVs, present in 191 individuals (19 females and 172 males), using the following criteria: 1) CNVs that contained implicated/candidate genes for ASD; 2) CNVs in genomic regions known to be implicated/candidate for ASD; 3) CNVs in regions associated with syndromes with ASD symptoms; and 4) high confidence CNVs that did not overlap more than 20% with controls in available databases. We explored recurrence rates, genic content, regulatory elements, inheritance patterns and phenotypic correlations.This work was supported by the fellowships SFRH/BPD/74739/2010 to ICC, SFRH/BPD/64281/2009 to CC and SFRH/BD/79081/2011 to BO from Fundação para a Ciência e a Tecnologia (Portugal)

Working from home, work-time control and mental health: results from the brazilian longitudinal study of adult health (ELSA-Brasil)

This cross-sectional study investigated the association between work-time control (WTC), independently and in combination with hours worked (HW), and four mental health outcomes among 2,318 participants of the Longitudinal Study of Adult Health (ELSA-Brasil) who worked from home during the COVID-19 pandemic. WTC was assessed by the WTC Scale, and mental health outcomes included depression, anxiety, stress (measured by the Depression, Anxiety and Stress Scale, DASS-21), and self-rated mental health. Logistic regression models were used to determine odds ratios (ORs) and 95% confidence intervals (CIs). Among women, long HW were associated with stress (OR = 1.56; 95% CI = 1.11–2.20) and poor self-rated mental health (OR = 1.64; 95% CI = 1.13–2.38), whereas they were protective against anxiety among men (OR = 0.59; 95% CI = 0.37–0.93). In both sexes, weak WTC was associated with all mental health outcomes. Among women, the long HW/weak WTC combination was associated with all mental health outcomes, and short HW/weak WTC was associated with anxiety and stress. Among men, long HW/strong WTC was protective against depression and stress, while short HW/strong WTC and short HW/weak WTC was associated with all mental health outcomes. In both sexes, weak WTC, independently and in combination with HW, was associated with all mental health outcomes. WTC can improve working conditions, protect against mental distress, and fosterwork-life balance for those who work from home

Implementation of a parentage control system in Portuguese beef-cattle with a panel of microsatellite markers

A study was conducted to assess the feasibility of applying a panel of 10 microsatellite markers in parentage control of beef cattle in Portugal. In the first stage, DNA samples were collected from 475 randomly selected animals of the Charolais, Limousin and Preta breeds. Across breeds and genetic markers, means for average number of alleles, effective number of alleles, expected heterozygosity and polymorphic information content, were 8.20, 4.43, 0.733 and 0.70, respectively. Enlightenment from the various markers differed among breeds, but the set of 10 markers resulted in a combined probability above 0.9995 in the ability to exclude a random putative parent. The marker-set thus developed was later used for parentage control in a group of 140 calves from several breeds, where there was the suspicion of possible faulty parentage recording. Overall, 76.4% of the calves in this group were compatible with the recorded parents, with most incompatibilities due to misidentification of the dam. Efforts must be made to improve the quality of pedigree information, with particular emphasis on information recorded at the calf's birth