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- Contraceção e risco de tromboembolismo venoso: um estudo caso-controloPublication . Guimarães, AC; Costa, P; Rocha, A; Queirós, F; Barbosa, AP; Nogueira-Silva, CObjetivos: Comparar o risco de tromboembolismo venoso (TEV) entre a 4ª geração e as gerações anteriores de contracetivos orais combinados (COC); analisar a correlação existente entre a idade, índice de massa corporal (IMC) e duração da toma do COC e o risco de TEV. Tipo de estudo: Estudo caso-controlo. Local: Centro Hospitalar doAlto-Ave, Hospital de Braga e Unidade Local de Saúde doAlto Minho. População: Foram estudadas no total 257 mulheres, das quais 122 tinham diagnóstico prévio de TEV e 135 não tinham história de TEV. Métodos: Reviram-se os registos clínicos de mulheres em seguimento por TEV, ocorrido entre 2010 e 2013. As mulheres a tomar COC aquando do evento tromboembólico eram os casos.Os controlosforam as mulheresseguidas em consulta de planeamento familiar,a tomar COC e sem antecedentes de TEV. Resultados: Os COC de 4ª geração não aumentam o risco de TEV comparativamente com as gerações anteriores (OR = 1,77; IC95 0,93-3,38; p = 0,083). Não se observou correlação entre o IMC e o risco de TEV (OR = 1,53; IC95 0,76-3,06; p = 0,234). Por outro lado, a idade (OR = 1,5; IC95 1,02-1,09; p = 0,001) e a duração da toma do COC (OR = 2,41; IC95 1,19-4,87; p = 0,014) estiveram associados a risco de TEV. Conclusões: O risco de TEV depende da idade e duração do uso do COC.Tendo em consideração as limitações do estudo, a interpretação dos resultados deve ser cautelosa, quanto à segurança dos COC de 4ª geração
- The rs5743836 polymorphism in TLR9 confers a population-based increased risk of non-Hodgkin lymphomaPublication . Carvalho, A; Cunha, C; Almeida, AJ; Osório, NS; Saraiva, M; Teixeira-Coelho, M; Pedreiro, S; Torrado, E; Domingues, N; Gomes-Alves, AG; Marques, A; Silva MG; Lacerda, JF; Gomes, M; Pinto, AC; Torres, F; Rendeiro, P; Tavares, P; Di Ianni, M; Heutink, P; Bracci, PM; Conde, L; Ludovico, P; Pedrosa, J; Maciel, P; Pitzurra, L; Aversa, F; Marques, H; Paiva, A; Skibola, CF; Romani, L; Castro, AG; Rodrigues, FNon-Hodgkin lymphoma (NHL) has been associated with immunological defects, chronic inflammatory and autoimmune conditions. Given the link between immune dysfunction and NHL, genetic variants in toll-like receptors (TLRs) have been regarded as potential predictive factors of susceptibility to NHL. Adequate anti-tumoral responses are known to depend on TLR9 function, such that the use of its synthetic ligand is being targeted as a therapeutic strategy. We investigated the association between the functional rs5743836 polymorphism in the TLR9 promoter and risk for B-cell NHL and its major subtypes in three independent case-control association studies from Portugal (1160 controls, 797 patients), Italy (468 controls, 494 patients) and the US (972 controls, 868 patients). We found that the rs5743836 polymorphism was significantly overtransmitted in both Portuguese (odds ratio (OR), 1.85; P=7.3E-9) and Italian (OR, 1.84; P=6.0E-5) and not in the US cohort of NHL patients. Moreover, the increased transcriptional activity of TLR9 in mononuclear cells from patients harboring rs5743836 further supports a functional effect of this polymorphism on NHL susceptibility in a population-dependent manner.
- Study of disease-relevant polymorphisms in the TLR4 and TLR9 genes: a novel method applied to the analysis of the Portuguese populationPublication . Carvalho, A; Marques, A; Maciel, P; Rodrigues, FToll-like receptors (TLRs) are cellular receptors that mediate recognition of microbial challenges and the subsequent inflammatory response. Genetic variations within these inflammation-associated genes may alter host-pathogen defence mechanisms affecting susceptibility towards infectious diseases. Taking into account the significance of these genes, we developed a simple and rapid method based in the bi-directional PCR amplification of specific alleles (Bi-PASA) for genotyping known sequence variants in TLR4 (Asp299Gly and Thr399Ile) and TLR9 (T-1237C) genes. This method allows genotype determination in a single reaction and is amenable to large-scale analysis. We used Bi-PASA to characterize the distribution of these polymorphisms in the Portuguese population. A total of 388 randomly selected blood donors of Portuguese origin (203 females and 185 males) were genotyped and allele frequencies were determined. Among the tested individuals, 11.1% and 10.8% were heterozygous for Asp299Gly and Thr399Ile, respectively. In what concerns the T-1237C variation in TLR9, the variant allele was present in 19.4% of the individuals tested. Besides confirming the usefulness of the Bi-PASA in polymorphism analysis, the data presented provide valuable information on TLR polymorphisms in the Portuguese population that can be used to stratify risk patients with increased susceptibility to infection.
- Acute segmental renal infarction due to factor V LeidenPublication . Cabral-Ribeiro, J; Sousa, L; Calaza, C; Santos, AOBJECTIVE: Renal infarction is rare and has variable clinical presentations causing diagnostic difficulties. Although most renal infarctions are caused by an obvious thromboembolic factor some are only explained by hereditary or acquired thrombophilia. The authors present a case of segmental renal infarction associated with factor V Leiden. METHODS/ RESULTS: A 48-year-old man presented with right flank pain that was unresponsive to analgesia for renal colic. CT scan was performed revealing a partial renal infarction. The etiologic study was only positive to factor V Leiden. In spite of the diagnosis and treatment it resulted in atrophy of the affected renal area. CONCLUSIONS: Renal infarction can be a presentation of thrombophilia that should be searched in the absence of an obvious embolic factor. Renal CT scan is the best way to a rapid diagnosis and treatment.