110 documents found, page 1 of 11
Genetic variants in the IFNGR2 locus associated with severe chronic Q fever
David, Suzana; Castro, Liliana; Duarte, Elsa Leclerc; Gaspar, Ulisses; da Costa Rodrigues, Maria Rosário; Cueto-Rojo, Maria Vanessa; Mendonça, JoanaQ fever is a highly contagious zoonosis capable of causing large outbreaks of important health and economic consequences. Host genetic factors are believed to influence the development of severe chronic Q fever following the infection by the etiological agent, Coxiella burnetii. Targetted next generation sequencing (NGS) was performed in a case-control genetic association study on 53 confirmed Q fever cases, in...
Genetic variants in the IFNGR2 locus associated with severe chronic Q fever
David, Susana; Castro, Liliana; Duarte, Elsa; Gaspar, Ulisses; Rodrigues, Maria Rosário da Costa; Cueto-Rojo, Maria Vanessa; Mendonça, JoanaQ fever is a highly contagious zoonosis capable of causing large outbreaks of important health and economic consequences. Host genetic factors are believed to influence the development of severe chronic Q fever following the infection by the etiological agent, Coxiella burnetii. Targetted next generation sequencing (NGS) was performed in a case-control genetic association study on 53 confirmed Q fever cases, in...
Zinc Deficiency Interacts with Intestinal/Urogenital Parasites in the Pathway t...
Fançony, Cláudia; Soares, Ânia; Lavinha, João; Brito, MiguelIn host organisms with normal micronutrient status, nutritional immunity is a strongly regulated response aiming at decreasing the progression and severity of infections. Zinc deficiency may disturb this balance, impairing immune responses to infections, which may indirectly increase infection-related anemia. Since zinc deficiency may associate directly with anemia, the role of infections is often overlooked. H...
Zinc deficiency interacts with intestinal/urogenital parasites in the pathway t...
Fançony, Cláudia; Soares, Ânia; Lavinha, João; Brito, MiguelIn host organisms with normal micronutrient status, nutritional immunity is a strongly regulated response aiming at decreasing the progression and severity of infections. Zinc deficiency may disturb this balance, impairing immune responses to infections, which may indirectly increase infection-related anemia. Since zinc deficiency may associate directly with anemia, the role of infections is often overlooked. H...
Wide spectrum of F9 variants in hemophilia B families from the Portuguese popul...
Moreira, Isabel; Diniz, Maria João; Tavares, Alice; Morais, Sara; Freitas, B.; Araújo, F.; Gago, T.; Antunes, EM; Catarino, C.; Campos, M.; Almeida, T.Introduction: Hemophilia B is an X-linked bleeding disorder caused by molecular defects in the Factor IX gene (F9), leading to either deficiency or functional abnormality of Factor IX. Actual data indicate a high heterogeneity of variants in F9. Over 1000 different variants have been reported, including pathogenic single nucleotide variants (SNPs), indels and complex variants. Materials and Methods: 86 index pa...
Effectiveness of nutrition and WASH/malaria educational community-based interve...
Fançony, Cláudia; Soares, Ânia; Lavinha, João; Barros, Henrique; Brito, MiguelWe found no published data in Angola regarding the effect of combining nutrition-specific and nutrition-sensitive approaches in the reduction of anemia in preschool children. Thus, we implemented a cluster-randomized controlled trial to determine the effectiveness of two educational-plus-therapeutic interventions, in Nutrition and WASH/Malaria, in reducing anemia. We compared them to (1) a test-and-treat interv...
Iron deficiency anaemia among 6-to-36-month children from northern Angola
Fançony, Cláudia; Soares, Ânia; Lavinha, João; Barros, Henrique; Brito, MiguelBackground: Angola is one of the southern African countries with the highest prevalence of anemia. Identifying anemia determinants is an important step in the design of evidence-based control strategies. In this study, we aim at documenting the factors associated with Iron Deficiency Anaemia (IDA) in 948 children recruited at the Health Research Center of Angola study area during 2015. Methods: Data on demograp...
Anemia in preschool children from Angola
Fançony, Cláudia; Lavinha, João; Brito, Miguel; Barros, HenriqueAngola is one of the southern African countries with the highest prevalence of anemia, and despite the high geographic heterogeneity of its distribution across the country, it was reported to be indicative of a severe public health problem in some areas, mainly in children. Despite the relevance of this condition in the country, there is still an important gap regarding scientific evidence and knowledge systema...
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...