Browsing by Author "Rodrigues, E."
Now showing 1 - 3 of 3
Results Per Page
Sort Options
- LPIN1 deficiency: A novel mutation associated with different phenotypes in the same familyPublication . Nunes, D.; Nogueira, C.; Lopes, A.; Chaves, P.; Rodrigues, E.; Cardoso, T.; Leão Teles, E.; Vilarinho, L.Rhabdomyolysis (RM) is characterized by acute and often severe skeletal muscle damage resulting in myoglobinuria and, in severe cases, acute renal failure. In adults is typically due to trauma, intoxication or infection, whereas in children is frequently associated with inherited muscle disorders. LPIN1 mutations were identified as a cause of severe recurrent RM, which usually begin in childhood, and infections are the most frequent trigger.
- Molecular characterization and antimicrobial susceptibility profiles in Streptococcus agalactiae colonizing strains: association of erythromycin resistance with subtype III-1 genetic clone familyPublication . Florindo, C.; Viegas, S.; Paulino, A.; Rodrigues, E.; Gomes, João Paulo; Borrego, M. J.Knowledge of the epidemiology of Streptococcus agalactiae in Portugal is limited: therefore, the present study aimed to investigate the carriage rate of S. agalactiae among Portuguese women of reproductive age and the prevalence of antibiotic resistance, as well as to perform a molecular characterization of the clinical isolates. S. agalactiae was recovered from 6.2% of 4269 women during the period 2005–2007, with a predominance of capsular genotypes III (35%), V (33%), Ia (16%) and II (10%) in a sample of 100 isolates. To our knowledge, this is the first report of the S. agalactiae colonization rate in Portugal determined according to CDC guidelines. All isolates were susceptible to penicillin and vancomycin, whereas resistance to clindamycin and erythromycin was detected in 10% and 19% of isolates, respectively. Among the 19 erythromycin-resistant isolates, ten (53%) displayed the constitutive MLSB phenotype (conferring high-level resistance to macrolides), eight (42%) had the inducible MLSB, and the M phenotype accounted for one isolate (5%). erm methylase genes were exclusively associated with MLSB phenotype isolates, whereas the M phenotype was a result of the presence of mefA. Multilocus sequence typing analysis of the genetic relatedness among isolates presenting resistance to erythromycin demonstrated a novel association between erythromycin resistance and the subtype III-1/ST-19 genetic clone family.
- The new automated daily mortality surveillance system in PortugalPublication . Nogueira, P.J.; Machado, A.; Rodrigues, E.; Nunes, Baltazar; Sousa, L.; Jacinto, M.; Ferreira, A.; Falcão, J.M.; Ferrinho, P.The experience reported in an earlier Eurosurveillance issue on a fast method to evaluate the impact of the 2003 heatwave on mortality in Portugal, generated a daily mortality surveillance system (VDM) that has been operating ever since jointly with the Portuguese Heat Health Watch Warning System. This work describes the VDM system and how it evolved to become an automated system operating year-round, and shows briefly its potential using mortality data from January 2006 to June 2009 collected by the system itself. The new system has important advantages such as: rapid information acquisition, completeness (the entire population is included), lightness (very little information is exchanged, date of death, age, sex, place of death registration). It allows rapid detection of impacts (within five days) and allows a quick preliminary quantification of impacts that usually took several years to be done. These characteristics make this system a powerful tool for public health action. The VDM system also represents an example of inter-institutional cooperation, bringing together organisations from two different ministries, Health and Justice, aiming at improving knowledge about the mortality in the population.