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  • Variants in the non-coding region of the TLR2 gene associated with infectious subphenotypes in pediatric sickle cell anemia
    Publication . David, Susana; Aguiar, Pedro; Antunes, Liliana; Dias, Alexandra; Morais, Anabela; Sakuntabhai, Anavaj; Lavinha, João
    Sickle cell anemia (SCA) is characterized by chronic hemolysis, severe vasoocclusive crises (VOCs), and recurrent often severe infections. A cohort of 95 SCA pediatric patients was the background for genotype-to-phenotype association of the patient's infectious disease phenotype and three non-coding polymorphic regions of the TLR2 gene, the -196 to -174 indel, SNP rs4696480, and a (GT)n short tandem repeat. The infectious subphenotypes included (A) recurrent respiratory infections and (B) severe bacterial infection at least once during the patient's follow-up. The absence of the haplotype [Del]-T-[n ≥ 17] (Hap7) in homozygocity protected against subphenotype (B), in a statistically significant association, resisting correction for multiple testing. For the individual loci, the same association tendencies were observed as in the haplotype, including a deleterious association between the SNP rs4696480 T allele and subphenotype (A), whereas the A/A genotype was protective, and a deleterious effect of the A/T genotype with subphenotype (B), as well as including the protective effect of -196 to -174 insert (Ins) and deleterious effect of the deletion (Del) in homozygocity, against subphenotype (B). Moreover, a reduction in the incidence rate of severe bacterial infection was associated to a rise in the hemolytic score, fetal hemoglobin levels (prior to hydroxyurea treatment), and 3.7-kb alpha-thalassemia. Interestingly, differences between the effects of the two latter covariables favoring a reduction in the incidence rate of subphenotype (B) contrast with a resulting increase in relation to subphenotype (A). These results could have practical implications in health care strategies to lower the morbidity and mortality of SCA patients
    2017-06-30Journal article Restricted access Show more
  • Klebsiella pneumoniae do Serotipo K1 e do Clone Hipervirulento ST23: primeiro caso documentado em Portugal
    Publication . Pereira, Aida; Petrucci, Tiago; Simões, Maria João
    A estirpe híper-virulenta Klebsiella pneumoniae serotipo K1 é responsável por uma síndrome invasiva infeciosa, caracterizada por abcessos hepáticos com manifestações extra-hepáticas. Inicialmente identificada em Taiwan, tem aumentado significativamente em vários países da Ásia, e mais recentemente na Europa e América do Norte, conferindo a esta entidade um caracter emergente e global. Os autores apresentam o caso clinico de uma mulher de 64 anos, caucasiana, portuguesa, sem antecedentes pessoais ou epidemiológicos como viagens ou exposição a produtos asiáticos, na qual foi diagnosticada, abcesso hepático piogénico complicado de derrame pleural por esta estirpe híper-virulenta. Após conhecimento do diagnóstico e instituição de terapêutica antibiótica combinada com drenagem percutânea, foi possível a resolução do caso clínico com sucesso. Este caso permitiu a identificação do primeiro caso de síndroma invasiva infeciosa, por Klebsiella pneumoniae do clone híper-virulento ST23 documentado em Portugal.
    2017-06-30Journal article Open access Show more