49 documents found, page 1 of 5
Anticonvulsant Therapy in Palliative Care in Hospital and Community Settings: P...
M. S. Rodrigues, Natalina; Souto, Márcia; S. Matos, Rita; Morais, AnabelaConvulsive seizures can have a significant impact on patients and caregivers. Due to their frequency and potential severity, they often constitute a medical urgency in the context of palliative care. We aimed to identify anticonvulsants commonly used in palliative care, describe their pharmacodynamic properties and routes of administration, and propose a state-of-the-art treatment algorithm for managing seizure...
Variantes na região não codificante do gene TLR2 associadas à infeção bacterian...
David, Susana; Aguiar, Pedro; Antunes, Liliana; Dias, Alexandra; Morais, Anabela; Sakuntabhai, Anavaj; Lavinha, JoãoA anemia falciforme é caracterizada por hemólise crónica, crises vaso- -oclusivas (CVO) e infeções recorrentes frequentemente graves. Uma coorte de 95 doentes pediátricos com anemia falciforme foi estudada quanto à associação genótipo-fenótipo para o subfenótipo “infeção bacteriana grave pelo menos uma vez durante o período de acompanhamento do doente” e três regiões polimórficas não codificantes do gene TLR2, ...
Biomarkers and genetic modulators of cerebral vasculopathy in sub-Saharan ances...
Silva, Marisa; Vargas, Sofia; Coelho, Andreia; Ferreira, Emanuel; Mendonça, Joana; Vieira, Luís; Maia, Raquel; Dias, Alexandra; Ferreira, TeresaWe 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...
Moduladores genéticos de vasculopatia cerebral em crianças com drepanocitose
Silva, Marisa; Vargas, Sofia; Maia, Raquel; Dias, Alexandra; Ferreira, Teresa; Morais, Anabela; Soares, Isabel Mota; Lavinha, João; Silva, RitaA drepanocitose é uma doença genética causada pela mutação c.20A>T, em homozigotia, no gene da beta-globina, que leva à síntese de uma hemoglobina anómala – hemoglobina S. Para além da anemia hemolítica crónica, as manifestações clínicas são diversas e, em crianças, a mais grave é a vasculopatia cerebral que inclui os acidentes vasculares cerebrais (AVC) e os enfartes cerebrais silenciosos. Apesar de monogénica...
Biomarkers and genetic modulators of cerebral vasculopathy in sub-Saharan ances...
Silva, Marisa; Vargas, Sofia; Coelho, Andreia; Ferreira, Emanuel; Mendonça, Joana; Vieira, Luís; Maia, Raquel; Dias, Alexandra; Ferreira, TeresaWe 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...
A Good Death: To Recognize the End-of-Life in Time
Pais, Carmen; Silva, Rita; Carvalho, Sónia; Morais, AnabelaAt a time of increasing life expectancy and greater than everpatients with chronic and incurable diseases in a medicinethat focus on healing, it is often difficult to determine that apatient is dying and in a situation of impending death. Impeding-death is based on a syndrome of progressive functionaldecline, oscillations of consciousness, multi-organ failure andrefusal to feed. This article aims to carry out a...
Genetic modulators of fetal hemoglobin expression and ischemic stroke occurrenc...
Nicolau, Marta; Vargas, Sofia; Silva, Marisa; Coelho, Andreia; Ferreira, Emanuel; Mendonça, Joana; Vieira, Luís; Kjollerstrom, Paula; Maia, RaquelSickle 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...
Genetic modulation of stroke in children with sickle cell anaemia
Silva, Marisa; Vargas, Sofia; Coelho, Andreia; Mendonça, Joana; Vieira, Luís; Kjollerstrom, Paula; Maia, Raquel; Silva, Rita; Dias, AlexandraSickle cell anaemia (SCA) is an autosomal recessive genetic disease that leads to the synthesis of haemoglobin S (HbS). The pathophysiology of the disease is centred on HbS polymerization inside the red blood cells, which become sickle-shaped (SSRBCs), rigid, viscous and adherent-prone to the vascular endothelium, favouring the occurrence of chronic haemolysis and vaso-occlusion. The main vascular problems of S...
Paediatric cerebral vasculopathy in sickle cell anaemia: contribution of geneti...
Silva, Marisa; Vargas, Sofia; Coelho, Andreia; Mendonça, Joana; Vieira, Luís; Kjollerstrom, Paula; Maia, Raquel; Silva, Rita; Dias, AlexandraSickle cell anaemia (SCA) arises from homozygosity for the mutation c.20A>T in the HBB gene. However, it shows a multifactorial-like behaviour with high heterogeneity of clinical features. Cerebral vasculopathy (CVA), namely paediatric ischemic stroke, is one of its most devastating consequences. The risk of CVA development, specifically stroke or silent cerebral infarction, may be modulated by underlying genet...
Genetic modulators of fetal hemoglobin expression and ischemic stroke occurrenc...
Nicolau, Marta; Vargas, Sofia; Silva, Marisa; Coelho, Andreia; Ferreira, Emanuel; Mendonça, Joana; Vieira, Luís; Kjöllerström, Paula; Maia, RaquelSickle 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...