http://comum.rcaap.pt/handle/123456789/1905 Tue, 21 May 2013 20:03:49 GMT 2013-05-21T20:03:49Z http://comum.rcaap.pt/handle/123456789/2884 Title: Study of disease-relevant polymorphisms in the TLR4 and TLR9 genes: a novel method applied to the analysis of the Portuguese population Authors: Carvalho, A; Marques, A; Maciel, P; Rodrigues, F Abstract: Toll-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. Mon, 01 Jan 2007 00:00:00 GMT http://comum.rcaap.pt/handle/123456789/2884 2007-01-01T00:00:00Z http://comum.rcaap.pt/handle/123456789/1965 Title: Acute segmental renal infarction due to factor V Leiden Authors: Cabral-Ribeiro, J; Sousa, L; Calaza, C; Santos, A Abstract: OBJECTIVE: 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. Thu, 01 Jan 2009 00:00:00 GMT http://comum.rcaap.pt/handle/123456789/1965 2009-01-01T00:00:00Z