Detection of regulator genes and eQTLs in gene networks

Genetic differences between individuals associated to quantitative phenotypic traits, including disease states, are usually found in non-coding genomic regions. These genetic variants are often also associated to differences in expression levels of nearby genes (they are "expression quantitative trait loci" or eQTLs for short) and presumably play a gene regulatory role, affecting the status of molecular networks of interacting genes, proteins and metabolites. Computational systems biology approaches to reconstruct causal gene networks from large-scale omics data have therefore become essential to understand the structure of networks controlled by eQTLs together with other regulatory genes, and to generate detailed hypotheses about the molecular mechanisms that lead from genotype to phenotype. Here we review the main analytical methods and softwares to identify eQTLs and their associated genes, to reconstruct co-expression networks and modules, to reconstruct causal Bayesian gene and module networks, and to validate predicted networks in silico.Comment: minor revision with typos corrected; review article; 24 pages, 2 figure

Stable isotope analysis provides new information on winter habitat use of declining avian migrants that is relevant to their conservation

Winter habitat use and the magnitude of migratory connectivity are important parameters when assessing drivers of the marked declines in avian migrants. Such information is unavailable for most species. We use a stable isotope approach to assess these factors for three declining African-Eurasian migrants whose winter ecology is poorly known: wood warbler Phylloscopus sibilatrix, house martin Delichon urbicum and common swift Apus apus. Spatially segregated breeding wood warbler populations (sampled across a 800 km transect), house martins and common swifts (sampled across a 3,500 km transect) exhibited statistically identical intra-specific carbon and nitrogen isotope ratios in winter grown feathers. Such patterns are compatible with a high degree of migratory connectivity, but could arise if species use isotopically similar resources at different locations. Wood warbler carbon isotope ratios are more depleted than typical for African-Eurasian migrants and are compatible with use of moist lowland forest. The very limited variance in these ratios indicates specialisation on isotopically restricted resources, which may drive the similarity in wood warbler populations' stable isotope ratios and increase susceptibility to environmental change within its wintering grounds. House martins were previously considered to primarily use moist montane forest during the winter, but this seems unlikely given the enriched nature of their carbon isotope ratios. House martins use a narrower isotopic range of resources than the common swift, indicative of increased specialisation or a relatively limited wintering range; both factors could increase house martins' vulnerability to environmental change. The marked variance in isotope ratios within each common swift population contributes to the lack of population specific signatures and indicates that the species is less vulnerable to environmental change in sub-Saharan Africa than our other focal species. Our findings demonstrate how stable isotope research can contribute to understanding avian migrants' winter ecology and conservation status

Conhecimento sobre hipertensão arterial e fatores associados à não adesão à farmacoterapia

OBJECTIVES: to identify the degree of knowledge of people with hypertension concerning the disease and to verify the factors associated with the non-adherence to anti-hypertensive drug therapy. METHOD: Cross sectional study, involving 422 people. Data collection took place at their homes, between December 2011 and March 2012, through interviews using the following instruments: Medication Adherence Questionnaire (MAQ-Q), Medication Regimen Complexity Index (MRCI) and a guide with questions related to sociodemographic profile, satisfaction with healthcare service and knowledge about the disease. RESULTS: 42.6% did not adhere to the drug therapy and 17.7% had poor knowledge about the disease. Factors associated with the non-adherence were: complex drug therapy, poor knowledge about the disease and dissatisfaction with the healthcare service. CONCLUSION: The findings reinforce that the complex drug therapy prescriptions, little knowledge about the disease and dissatisfaction with the healthcare service have influence on the process of non-adherence to anti-hypertensive drug therapy.OBJETIVOS: identificar el nivel de conocimiento de personas con hipertensión arterial acerca de la enfermedad y verificar los factores asociados a la no adhesión a la farmacoterapia antihipertensiva. MÉTODO: estudio transversal realizado en 422 individuos. Los datos fueron recolectados en los domicilios, entre diciembre de 2011 y marzo de 2012, por medio de entrevistas utilizando los instrumentos: Cuestionario de Adhesión a Medicamentos (CAM-Q), Índice de Complejidad de la Farmacoterapia y un guión con preguntas relativas al perfil sociodemográfico, satisfacción con el servicio de salud y conocimiento sobre la enfermedad. RESULTADOS: 42,6% no adherían a la farmacoterapia y 17,7% poseían conocimiento insatisfactorio sobre la enfermedad. Los factores asociados a la no adhesión fueron: farmacoterapia compleja, conocimiento insatisfactorio sobre la enfermedad e insatisfacción con el servicio de salud. CONCLUSIÓN: Los hallazgos refuerzan que prescripciones farmacológicas complejas, poco conocimiento sobre la enfermedad e insatisfacción con el servicio de salud influyen en el proceso de la no adhesión al tratamiento medicamentoso antihipertensivo.OBJETIVOS: identificar o nível de conhecimento de pessoas com hipertensão arterial acerca da doença e verificar os fatores associados à não adesão à farmacoterapia anti-hipertensiva. MÉTODO: estudo transversal, realizado com 422 indivíduos. Os dados foram coletados nos domicílios, entre dezembro de 2011 e março de 2012, por meio de entrevistas, utilizando os instrumentos: Questionário de Adesão a Medicamentos, Índice de Complexidade da Farmacoterapia e um roteiro com questões relativas ao perfil sociodemográfico, satisfação com o serviço de saúde e conhecimento sobre a doença. RESULTADOS: 42,6% não aderiram à farmacoterapia e 17,7% possuíam conhecimento insatisfatório sobre a doença. Os fatores associados à não adesão foram: farmacoterapia complexa, conhecimento insatisfatório sobre a doença e insatisfação com o serviço de saúde. CONCLUSÃO: os achados reforçam que prescrições farmacológicas complexas, pouco conhecimento sobre a doença e insatisfação com o serviço de saúde influenciam no processo de não adesão ao tratamento medicamentoso anti-hipertensivo

Motor development of children with attention deficit hyperactivity disorder

Objective: To compare both global and specific domains of motor development of children with attention deficit hyperactivity disorder (ADHD) with that of typically developing children. Methods: Two hundred children (50 children with clinical diagnoses of ADHD, according to the DSM-IV-TR and 150 typically developing controls), aged 5 to 10 years, participated in this crosssectional study. The Motor Development Scale was used to assess fine and global motricity, balance, body schema, and spatial and temporal organization. Results: Between-group testing revealed statistically significant differences between the ADHD and control groups for all domains. The results also revealed a deficit of nearly two years in the motor development of children with ADHD compared with the normative sample. Conclusion: The current study shows that ADHD is associated with a delay in motor development when compared to typically developing children. The results also suggested difficulties in certain motor areas for those with ADHD. These results may point to plausible mechanisms underlying the relationship between ADHD and motor difficulties

Portuguese recommendations for the use of biological and targeted synthetic diseasemodifying antirheumatic drugs in patients with rheumatoid arthritis – 2020 update

Objective: To update the recommendations for the treatment of rheumatoid arthritis (RA) with biological and targeted synthetic disease-modifying antirheumatic drugs (bDMARDs and tsDMARDs), endorsed by the Portuguese Society of Rheumatology (SPR). Methods: These treatment recommendations were formulated by Portuguese rheumatologists taking into account previous recommendations, new literature evidence and consensus opinion. At a national meeting, in a virtual format, three of the ten previous recommendations were re-addressed and discussed after a more focused literature review. A first draft of the updated recommendations was elaborated by a team of SPR rheumatologists from the SPR rheumatoid arthritis study group, GEAR. The resulting document circulated among all SPR rheumatologists for discussion and input. The level of agreement with each of all the recommendations was anonymously voted online by all SPR rheumatologists. Results: These recommendations cover general aspects such as shared decision, treatment objectives, systematic assessment of disease activity and burden and its registry in Reuma.pt. Consensus was also achieved regarding specific aspects such as initiation of bDMARDs and tsDMARDs, assessment of treatment response, switching and definition of persistent remission. Conclusion: These recommendations may be used for guidance of treatment with bDMARDs and tsDMARDs in patients with RA. As more evidence becomes available and more therapies are licensed, these recommendations will be updated.info:eu-repo/semantics/publishedVersio

Influence of mercury exposure on blood pressure, resting heart rate and heart rate variability in French Polynesians: a cross-sectional study

<p>Abstract</p> <p>Background</p> <p>Populations which diet is rich in seafood are highly exposed to contaminants such as mercury, which could affect cardiovascular risk factors</p> <p>Objective</p> <p>To assess the associations between mercury and blood pressure (BP), resting heart rate (HR) and HR variability (HRV) among French Polynesians</p> <p>Methods</p> <p>Data were collected among 180 adults (≥ 18 years) and 101 teenagers (12-17 years). HRV was measured using a two-hour ambulatory electrocardiogram (Holter) and BP was measured using a standardized protocol. The association between mercury and HRV and BP parameters was studied using analysis of variance (ANOVA) and analysis of covariance (ANCOVA)</p> <p>Results</p> <p>Among teenagers, the high frequency (HF) decreased between the 2^ndand 3^rdtertile (380 vs. 204 ms², p = 0.03) and a similar pattern was observed for the square root of the mean squared differences of successive R-R intervals (rMSSD) (43 vs. 30 ms, p = 0.005) after adjusting for confounders. In addition, the ratio low/high frequency (LF/HF) increased between the 2^ndand 3^rdtertile (2.3 vs. 3.0, p = 0.04). Among adults, the standard deviation of R-R intervals (SDNN) tended to decrease between the 1^stand 2^ndtertile (84 vs. 75 ms, p = 0.069) after adjusting for confounders. Furthermore, diastolic BP tended to increase between the 2^ndand 3^rdtertile (86 vs. 91 mm Hg, p = 0.09). No significant difference was observed in resting HR or pulse pressure (PP)</p> <p>Conclusions</p> <p>Mercury was associated with decreased HRV among French Polynesian teenagers while no significant association was observed with resting HR, BP, or PP among teenagers or adults</p