22 documents found, page 1 of 3
Analysis of Genes Involved in Oxidative Stress and Iron Metabolism in Heart Fai...
Silva, PX; Aguiar, L; Gaspar, M; Faustino, P; Falcão, LM; Barbosa, M; Bicho, M; Inácio, ÂIntroduction: Heart failure (HF) is a clinical syndrome characterized by cardinal symptoms that may be accompanied by signs. It results from structural and/or functional abnormalities of the heart leading to elevated intracardiac pressures and/or inadequate cardiac output at rest and/or during exercise. The prevalence of iron deficiency and anemia justifies the current guidelines recommendation of screening. Ge...
Hypophosphatemia As a Possible Biomarker for Epileptic Seizures at the Emergenc...
Coutinho, M; Faustino, P; Ladeira, F; Leitão, LIntroduction: Hypophosphatemia seems to be temporally associated with seizures, despite not being considered a trigger. We aimed to evaluate hypophosphatemia as a biomarker for seizures. Methods: Retrospective study, including all consecutive patients admitted at our central hospital's emergency department from 01/01-31/03/2021, screened as "altered consciousness/syncope" or "seizures", with available phosphate...
Outcomes in Guillain-Barré Syndrome Following a Second Therapeutic Cycle – A Si...
Faustino, P; Coutinho, M; Brum, M; Medeiros, L; Ladeira, FIntroduction: The treatment of Guillain-Barré Syndrome (GBS) with intravenous immunoglobulin (IVIg) or plasma exchange (PE) reduces time to clinical recovery. Although sometimes used in clinical practice, the benefit of a second treatment cycle is of unproven benefit. Aims: Our aim was to compare GBS prognosis in patients treated with one or two cycles of IVIg or PE. Methods: We selected patients with electroph...
Seroconversion Rate Following HBV Vaccination in Clinical Practice: The Role of...
Faustino, P; Coutinho, M; Leitão, L; Capela, C; Brum, M; Parra, J; Sequeira, J; Barros, A; Araújo, C; Sousa, A; Ladeira, FHBV screening and immunization is recommended in all MS patients and is mandatory before the start of some DMT. However, studies evaluating the immune response to HBV vaccine in MS patients are scarce. We aimed to evaluate the seroprotection rate following HBV immunization in MS patients and to assess if older age and DMT-treatment influenced seroprotection. We conducted a cohort study between 2016 and 2020 and...
Biomarkers and Genetic Modulators of Cerebral Vasculopathy in Sub-Saharan Ances...
Silva, M; Vargas, S; Coelho, A; Ferreira, E; Mendonça, J; Vieira, L; Maia, R; Dias, A; Ferreira, T; Morais, A; Soares, IM; Lavinha, J; Silva, RWe investigated biomarkers and genetic modulators of the cerebral vasculopathy (CV) subphenotype in pediatric sickle cell anemia (SCA) patients of sub-Saharan African ancestry. We found that one VCAM1 promoter haplotype (haplotype 7) and VCAM1 single nucleotide variant rs1409419_T were associated with stroke events, stroke risk, as measured by time-averaged mean of maximum velocity in the middle cerebral artery...
Genetic Modulators of Fetal Hemoglobin Expression and Ischemic Stroke Occurrenc...
Nicolau, M; Vargas, S; Silva, M; Coelho, A; Ferreira, E; Mendonça, J; Vieira, L; Kjöllerström, P; Maia, R; Silva, R; Dias, A; Ferreira, T; Morais, ASickle cell anemia (SCA) is an autosomal recessive monogenic disease with significant clinical variability. Cerebrovascular disease, particularly ischemic stroke, is one of the most severe complications of SCA in children. This study aimed to investigate the influence of genetic variants on the levels of fetal hemoglobin (Hb F) and biochemical parameters related with chronic hemolysis, as well as on ischemic st...
Population Genetics of IFITM3 in Portugal and Central Africa Reveals a Potentia...
David, S; Correia, V; Antunes, L; Faria, R; Ferrão, J; Faustino, P; Nunes, B; Maltez, F; Lavinha, J; Rebelo de Andrade, HInfluenza epidemics are a serious global public health and economic problem. The IFITM3 allele (rs12252-C) was suggested as a population-based genetic risk factor for severe influenza virus infection by A(H1N1)pdm09. We analyzed the population genetics of IFITM3 variants in the Portuguese general population (n = 200) and Central Africans (largely Angolan) (n = 148) as well as its association to influenza severi...
Population genetics of IFITM3 in Portugal and Central Africa reveals a potentia...
David, S; Correia, V; Antunes, L; Faria, R; Ferrão, J; Faustino, P; Nunes, B; Maltez, F; Lavinha, J; Rebelo de Andrade, HInfluenza epidemics are a serious global public health and economic problem. The IFITM3 allele (rs12252-C) was suggested as a strong population-based genetic risk factor for severe influenza virus infection by A(H1N1)pdm09. We analyzed the population genetics of IFITM3 variants in Portuguese general population (n=200) and Central Africans (largely Angolan) (n=148) as well as its association to influenza severit...
Hemorheological alterations in sickle cell anemia and their clinical consequenc...
Silva, M; Vargas, S; Coelho, A; Dias, A; Ferreira, T; Morais, A; Maia, R; Kjöllerström, P; Lavinha, J; Faustino, PSickle cell anemia (SCA) is an autosomal recessive disease caused by the HBB:c.20A>T mutation that leads to hemoglobin S synthesis. The disease presents with high clinical heterogeneity characterized by chronic hemolysis, recurrent episodes of vaso-oclusion and infection. This work aimed to characterize by in silico studies some genetic modulators of severe hemolysis and stroke risk in children with SCA, and un...
Sickle cell anemia - Nitric oxide related genetic modifiers of hematological an...
Aguiar, L; Matos, A; Gil, A; Afonso, C; Almeida, S; Braga, L; Lavinha, J; Kjollerstrom, P; Faustino, P; Bicho, M; Inácio, ASickle cell anemia (SCA) is an inherited blood disorder. SCA patients present clinical and hematologic variability that cannot be only explained by the single mutation in the beta-globin gene. Others genetic modifiers and environmental effects are important for the clinical phenotype. SCA patients present arginine deficiency that contributes to a lower nitric oxide (NO) bioactivity.