Browsing by Issue Date, starting with "2017-11-17"
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- Regulatory RNA genes are targeted by Copy Number Variation in Autism Spectrum DisorderPublication . Marques, A.R.; Martiniano, H.; Santos, J.X.; Vilela, J.; Asif, M.; Oliveira, G.; Romão, L.; Vicente, A.M.Autism Spectrum Disorder (ASD) is a highly heterogeneous neurodevelopmental disorder with an unclear etiology. Genetic factors are estimated to account for 50 to 80% of the familial ASD risk, but most of the genetic determinants are still not known and a role for epigenetic factors is likely. The involvement of noncoding RNAs in ASD is, so far, insufficiently explored. MicroRNA (miRNA) and long noncoding RNA (lncRNA) are regulatory molecules, abundantly expressed in the brain, that play an important role during early stages of neural development. In this work we sought to address their potential role as ASD candidates, by identifying Copy Number Variants (CNVs) targeting miRNA and lncRNA genes in a large cohort of ASD patients, and examined their target genes and biological pathways.
- Sumos detox, uma boa boa opção nutricional… sim ou não?Publication . Santos, I.C.; Albuquerque, T.G.; Silva, M.A.; Costa, H.S.Apresentação oral sobre se os sumos detox são uma boa boa opção nutricional.
- Portuguese data regarding the Rickettsiales and Coxiella detected in ticks and the associated human casesPublication . Santos, A.S.The Center for Vectors and Infectious Diseases Research (CEDVI), from the National Institute of Health, is a reference laboratory on vector-borne with human health impact.
- Depression and unemployment incidence rate evolution in Portugal, 1995-2013: General Practitioner Sentinel Network dataPublication . Rodrigues, Ana Paula; Sousa-Uva, Mafalda; Fonseca, Rita; Marques, Sara; Pina, Nuno; Matias-Dias, CarlosOBJECTIVE: Quantify, for both genders, the correlation between the depression incidence rate and the unemployment rate in Portugal between 1995 and 2013. METHODS: An ecological study was developed to correlate the evolution of the depression incidence rates estimated by the General Practitioner Sentinel Network and the annual unemployment rates provided by the National Statistical Institute in official publications. RESULTS: There was a positive correlation between the depression incidence rate and the unemployment rate in Portugal, which was significant only for males (R2 = 0.83, p = 0.04). For this gender, an increase of 37 new cases of depression per 100,000 inhabitants was estimated for each 1% increase in the unemployment rate between 1995 and 2013. CONCLUSIONS: Although the study design does not allow the establishment of a causal association between unemployment and depression, the results suggest that the evolution of unemployment in Portugal may have had a significant impact on the level of mental health of the Portuguese, especially among men.
- Endothelial factors and stroke risk in pediatric sickle cell anemia patients: insights from VCAM1 and ITGA4 variantsPublication . Silva, Marisa; Vargas, Sofia; Coelho, Andreia; Mendonça, Joana; Vieira, Luís; Kjollerstrom, Paula; Maia, Raquel; Silva, Rute; Dias, Alexandra; Ferreira, Teresa; Morais, Anabela; Mota Soares, Isabel; Lavinha, João; Faustino, PaulaSickle cell anemia (SCA) arises from homozygosity for the mutation c.20A>T in the HBB gene which originates hemoglobin S (HbS). In hypoxic conditions, HbS polymerizes inside erythrocytes deforming them and ultimately leading to hemolysis and vaso-occlusion. SCA shows a multifactorial-like behaviour with a high heterogeneity of clinical features, with stroke being the most severe of them. This heterogeneity may arise from underlying genetic modifiers, namely those affecting vascular adhesion/endothelial dysfunction. These include genes encoding the VCAM-1 molecule and its ligand VLA-4 (ITGA4 or integrin α4), increasingly studied due to their expression in activated human endothelium and leucocytes/stress reticulocytes, respectively. The aim of this study was to identify putative genetic modulators of stroke risk by analyzing 70 pediatric SCA patients, grouped according to their degree of cerebral vasculopathy. Molecular analysis was performed using Next-Generation Sequencing (NGS) and Sanger Sequencing. R software was used for statistical analyses and association studies. In silico studies were performed using PHASE, TFbind, PROMO and Human Splicing Finder software tools. We identified six different VCAM1 promoter variants and seven haplotypes. The VCAM1 promoter rs1409419_T allele was associated with stroke events (p=0.008; O.R.= 4.33; C.I.95% =1.391-14.257), while one VCAM1 promoter haplotype was found to be protective of stroke (p=0.011; O.R.=0.22; C.I.95% =0.048-0.784). On the ITGA4 gene, forty variants were found, six of them novel. All patients presented with at least one variant in this gene. We observed co-inheritance of specific sets of ITGA4 variants indicating the presence of haplotypes not previously described. Additionally the presence of specific variants seems to result in a predisposition for either high reticulocyte count, elevated lactate dehydrogenase, raised bilirubin levels or increased transcranial Doppler velocity values. Our results reinforce the role of endothelial molecules and blood cell interaction in SCA severity. The association between specific VCAM1, as well as ITGA4, variants with certain cerebral vasculopathy predictors, further enhances their putative modulating effect on pediatric stroke severity and prognosis. These findings provide additional clues on the SCA pathophysiology and uncover features of both genes that may prove to be crucial as potential therapeutic targets.
- Relação entre a exposição ambiental a substâncias teratogénicas durante a gravidez e anomalias congénitas no recém-nascido: um estudo piloto em PortugalPublication . Prelhaz, Carolina; Marques, Inês; Lacerda, Catarina; Braz, Paula; Machado, Ausenda; Batista, NilzeIntrodução e objetivos: Na gravidez, a exposição a factores ambientais teratogénicos pode ser nociva no desenvolvimento fetal. Neste trabalho avaliou-se a exequibilidade de um estudo sobre exposição residencial e laboral da grávida a substâncias ambientais teratogénicas e o desenvolvimento de anomalias congénitas (AC), apresentando-se dados do estudo-piloto. Metodologia: Estudo epidemiológico observacional, do tipo caso-controlo, decorrido no CHBM em 2016. Exposição ambiental caracterizada (1) pela profissão materna e potencial contato profissional com substâncias teratogénicas e (2) localização geográfica da residência, emprego e zonas de lazer durante a gestação. Dados recolhidos em entrevista com questionário adaptado do formulário de notificação do RENAC. A análise descritiva avaliou a qualidade dos dados e % de valores omissos. Resultados: Amostra constituida por 78 notificações (26 casos, 52 controlos). A maioria dos casos residia na Moita (46%), e a maioria dos controlos no Barreiro (35%), seguindo-se o Montijo. A maioria tanto dos casos como dos controlos trabalhava em Lisboa, seguindo-se Barreiro, Moita e Montijo. Nos casos, o local preferencial de lazer foi a Moita (34,6%) e nos controlos o Barreiro (30%). As anomalias do sistema musculo-esquelético foram as mais reportadas (38,5%). Na avaliação da exequibilidade do estudo, a apreciação da equipa no campo mostrou adequação dos documentos de apoio e tempo de aplicação do questionário. A implementação do estudo foi considerada “fácil”, com taxa de participação 99%. A maior percentagem de valores omissos verificou-se nos controlos. Conclusões: Apesar destes resultados não terem ainda dimensão suficiente para extrapolar relações, este estudo demonstrou a exequibilidade do projeto e da sua continuação.