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- Agentes etiológicos em infecçoes do tracto urinário e sua susceptibilidade aos antimicrobianosPublication . Correia, Carlos; Costa, ElísioCom o objectivo de conhecer os agentes etiológicos mais comuns na infecção do tracto urinário (ITU) e comparar o seu padrão de susceptibilidade aos antimicrobianos, para o mesmo agente etiológico, quer em doentes internados, quer em regime de ambulatório, foram analisados todos os exames bacteriológicos de urina que deram entrada no Serviço de Patologia Clínica do Centro Hospitalar do Nordeste, EPE – Unidade Hospitalar de Bragança, durante o período compreendido entre Janeiro de 2004 a Dezembro de 2008. Este estudo permite dispor de dados necessários para o conhecimento dos diferentes agentes etiológicos mais importantes nas ITU no distrito de Bragança e disponibilizar a informação sobre os seus padrões de resistências, necessários para se iniciar um tratamento empírico adequado e elaborar guias de tratamento.
- Impact of UGT1A1 gene variants on total bilirubin levels in Gilbert syndrome patients and in healthy subjectsPublication . Rodrigues, Carina; Vieira, Emília; Santos, Rosário; Carvalho, João de; Santos-Silva, Alice; Costa, Elísio; Bronze-da-Rocha, ElsaThe Gilbert syndrome is a benign form of unconjugated hyperbilirubinemia, mainly associated with alterations in UGT1A1 gene. This work investigated the effect of UGT1A1 variants on total bilirubin levels in Gilbert patients (n = 45) and healthy controls (n = 161). Total bilirubin levels were determined using a colorimetric method; molecular analysis of exons 1–5 and two UGT1A1 promoter regions were performed by direct sequencing and automatic analysis of fragments. Five in silico methods predicted the effect of new identified variants. A significant different allelic distribution, in Gilbert patients and in controls, was found for two promoter polymorphisms. Among patients, 82.2% were homozygous and 17.8% heterozygous for the c.− 41_ − 40dupTA allele; in control group, 9.9% were homozygous and 43.5% heterozygous for this promoter variant, while 46.6% (n = 75) presented the [A(TA)6TAA]. For the T>G transition at c.− 3279 promoter region, in patients, 86.7% were homozygous and 13.3% heterozygous; in control group, 33.5% were homozygous for the wild type allele, 44.1% were heterozygous and 22.4% homozygous for the mutated allele. The two polymorphisms were in Hardy–Weinberg equilibrium in both groups. Sequencing of UGT1A1 coding region identified nine novel variants, five in patients and four in controls. In silico analysis of these amino acids replacements predicted four of them as benign and three as damaging. In conclusion, we demonstrated that total bilirubin levels are mainly determined by the TA duplication in the TATA-box promoter and by the c.− 3279T>G variant. Alterations in the UGT1A1 coding region seem to be associated with increased bilirubin levels, and, therefore, with Gilbert syndrome.