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...
Influenza epidemics are a serious global public health and economic problem. The IFITM3 allele (rs12252-C) was suggested as a population-based genetic risk factor for severe influenza virus infection by A(H1N1)pdm09. We analyzed the population genetics of IFITM3 variants in the Portuguese general population (n = 200) and Central Africans (largely Angolan) (n = 148) as well as its association to influenza severi...
Influenza epidemics are a serious global public health and economic problem. The IFITM3 allele (rs12252-C) was suggested as a strong population-based genetic risk factor for severe influenza virus infection by A(H1N1)pdm09. We analyzed the population genetics of IFITM3 variants in Portuguese general population (n=200) and Central Africans (largely Angolan) (n=148) as well as its association to influenza severit...
Major contributions from pathogen genome analysis and host genetics have equated the possibility of Mycobacterium tuberculosis co-evolution with its human host leading to more stable sympatric host-pathogen relationships. However, the attribution to either sympatric or allopatric categories depends on the resolution or grain of genotypic characterization. We explored the influence on the sympatric host-pathogen...
The global tuberculosis (TB) threat is diffi cult to evaluate in countries with scarce laboratory facilities where little is known about the genetic basis of drug resistance, including the rpoB RRDR (rifampicin resistance determining region) of the Mycobacterium tuberculosis complex (MTC). The present study aimed at performing a preliminary evaluation of rpoB polymorphisms in a DNA set of MTC isolates from Guin...
Multidrug and extensively drug resistant Mycobacterium tuberculosis are a threat to tuberculosis control programs. Genotyping methods, such as spoligotyping and MIRU-VNTR typing (Mycobacterial Interspersed Repetitive Units), are useful in monitoring potentially epidemic strains and estimating strain phylogenetic lineages and/or genotypic families. M. tuberculosis Latin American Mediterranean (LAM) family is a m...
The diagnosis of tuberculosis is seriously hampered in the absence of standard biosafety laboratory facilities for specimen concentration and Mycobacterium tuberculosis culture. Within a laboratory twinning arrangement, heat-fixed direct smear and sediment from 74 bleach-processed and 20 non-processed specimens from Cumura Hospital, Guinea-Bissau, were sent to Lisbon for molecular evaluation of rifampicin resis...
Tuberculosis is a major health problem in Portugal. To begin characterizing the population structure of Mycobacterium tuberculosis, spoligotyping was used for the systematic typing, through consecutive sampling, of patient isolates from the Amadora-Sintra area of Greater Lisbon. Distribution amongst major spoligotype families, including the Latin American Mediterranean (LAM), T, Haarlem and Beijing, was compare...
The differential diagnosis of Mycobacterium bovis is important in the control of transmission to the human population and also for treatment since M. bovis is naturally resistant to pyrazinamide. Eleven clinical isolates from the Fernando Fonseca Hospital with Spoligotypes indicative of M. bovis, through the absence of spacers 39-43 but that also counted with the absence of spacer 38, were analyzed. For the ide...
O presente estudo populacional, que decorreu entre 1999 e 2003, foi baseado na utilização do Spoligotyping na genotipagem de 452 isolados do complexo Mycobacterium tuberculosis de doentes com tuberculose internados no Hospital Fernando Fonseca. Spoligotypes foram identificados como shared types (ST) recorrendo a uma base de dados internacional. Onze ST raros, não identificados na base de dados, acomodaram 8,4% ...