Browsing by Author "Oliveira, E."
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- AGREGADOS TUBULARES DE RETÍCULO ENDOPLASMÁTICO LISO EM OVÓCITOS HUMANOS E SUA INFLUÊNCIA NAS TAXAS DE FERTILIZAÇÃO E GRAVIDEZPublication . Luis, A.; Sá, R.; Oliveira, E.; Oliveira, C.; Silva, J.; Barros, A.; Sousa, M.O impacto da presença de anomalias morfológicas ovocitárias na fertilização e taxas de gravidez é um tema controverso na literatura. A presença de agregados tubulares de retículo endoplasmático liso (AT-REL) foi associada a taxas de gravidez mais baixas e a maior incidência de complicações obstétricas. A estrutura ultramiscroscópica destes AT-REL não está descrita. Este trabalho teve como objectivos: a) determinar a influência da presença de AT-REL nas taxas de fertilização e gravidez; b) descrever a ultrastrutura dos AT-REL de ovócitos humanos maduros
- Clinical and Genetic Analysis of Children with Kartagener SyndromePublication . Pereira, R.; Barbosa, T.; Gales, L.; Oliveira, E.; Santos, R.; Oliveira, J.; Sousa, M.Primary ciliary dyskinesia (PCD) is a rare autosomal recessive disorder characterized by dysfunction of motile cilia causing ineffective mucus clearance and organ laterality defects. In this study, two unrelated Portuguese children with strong PCD suspicion underwent extensive clinical and genetic assessments by whole-exome sequencing (WES), as well as ultrastructural analysis of cilia by transmission electron microscopy (TEM) to identify their genetic etiology. These analyses confirmed the diagnostic of Kartagener syndrome (KS) (PCD with situs inversus). Patient-1 showed a predominance of the absence of the inner dynein arms with two disease-causing variants in the CCDC40 gene. Patient-2 showed the absence of both dynein arms and WES disclosed two novel high impact variants in the DNAH5 gene and two missense variants in the DNAH7 gene, all possibly deleterious. Moreover, in Patient-2, functional data revealed a reduction of gene expression and protein mislocalization in both genes' products. Our work calls the researcher's attention to the complexity of the PCD and to the possibility of gene interactions modelling the PCD phenotype. Further, it is demonstrated that even for well-known PCD genes, novel pathogenic variants could have importance for a PCD/KS diagnosis, reinforcing the difficulty of providing genetic counselling and prenatal diagnosis to families.
- Thrombus aspiration in patients with ST-elevation myocardial infarction: results of a national registry of interventional cardiologyPublication . Pereira, H.; Caldeira, D.; Teles, R.; Costa, M.; Silva, P.; Ribeiro, V.; Brandão, V.; Martins, D.; Matias, F.; Pereira-Machado, F.; Baptista, J.; Abreu, P.; Santos, R.; Drummond, A.; Carvalho, H.; Calisto, J.; Silva, J.; Pipa, J.; Marques, J.; Sousa, P.; Fernandes, R.; Ferreira, R.; Ramos, S.; Oliveira, E.; Almeida, M.BACKGROUND: We aimed to evaluate the impact of thrombus aspiration (TA) during primary percutaneous coronary intervention (P-PCI) in 'real-world' settings. METHODS: We performed a retrospective study, using data from the National Registry of Interventional Cardiology (RNCI 2006-2012, Portugal) with ST-elevation myocardial infarction (STEMI) patients treated with P-PCI. The primary outcome, in-hospital mortality, was analysed through adjusted odds ratio (aOR) and 95% confidence intervals (95%CI). RESULTS: We assessed data for 9458 STEMI patients that undergone P-PCI (35% treated with TA). The risk of in-hospital mortality with TA (aOR 0.93, 95%CI:0.54-1.60) was not significantly decreased. After matching patients through the propensity score, TA reduced significantly the risk of in-hospital mortality (OR 0.58, 95%CI:0.35-0.98; 3500 patients). CONCLUSIONS: The whole cohort data does not support the routine use of TA in P-PCI, but the results of the propensity-score matched cohort suggests that the use of selective TA may improve the short-term risks of STEMI.