Browsing by Author "Rodrigues, R"
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- Análise das Serologias para Infeções do Grupo TORCH e do Rastreio para Streptococcus do Grupo B na População de Grávidas de uma MaternidadePublication . Lito, D; Francisco, T; Salva, I; Tavares, M; Rodrigues, R; Neto, MTINTRODUCTION: Systematic screening for TORCH infections and group B Streptococcus (GBS) during pregnancy has been an important factor in the improvement of perinatal care. AIM: To evaluate TORCH serology and GBS carriers state in the population of a maternity, to assess variability with age and nationality and to search for congenital infections. MATERIAL AND METHODS: Non-probabilistic prevalence study. RESULTS: 9508 TORCH and 2639 GBS results were registered. Immunity rate for rubella was 93.3%, higher for Portuguese women; for toxoplasmosis it was 25.7%, higher among the oldest and foreign women; IgG for CMV was positive in 62.4%, no influence of age was found. VDRL was reactive in 0.5%; HBsAg was found to be positive in 2.3%, higher in foreign women. Antibodies for hepatitis C virus and HIV were found respectively in 1.4% and 0.7%. No congenital infections were diagnosed. GBS carrier state was found in 13.9%. DISCUSSION: A high rate of positive IgG was found for rubella reflecting vaccines policy. For toxoplasmosis the low rate of positives means that a high number of pregnant women have to repeat serology during pregnancy with inherent costs. Like in the general population, a high rate of CMV positive mothers was found. For some infections we found that foreign women had different conditions. CONCLUSION: Knowledge on TORCH and GBS state helps to better draw guidelines concerning screening policies during pregnancy
- Association of ADAMTS7 gene polymorphism with cardiovascular survival in coronary artery diseasePublication . Pereira, A; Palma dos Reis, R; Rodrigues, R; Sousa, A C; Gomes, S; Borges, S; Ornelas, I; Freitas, A I; Guerra, G; Henriques, E; Rodrigues, M; Freitas, S; Freitas, C; Brehm, A; Pereira, D; Mendonça, M IRecent genetic studies have revealed an association between polymorphisms at the ADAMTS7 gene locus and coronary artery disease (CAD) risk. Functional studies have shown that a CAD-associated polymorphism (rs3825807) affects ADAMTS7 maturation and vascular smooth muscular cell (VSMC) migration. Here, we tested whether ADAMTS7 (A/G) SNP is associated with cardiovascular (CV) survival in patients with established CAD. A cohort of 1,128 patients with angiographic proven CAD, who were followed up prospectively for a mean follow-up period of 63 (range 6-182) mo, were genotyped for rs3825807 A/G. Survival statistics (Cox regression) compared heterozygous (AG) and wild-type (AA) with the reference homozygous GG. Kaplan-Meier (K-M) survival curves were performed according to ADAMTS7 genotypes for CV mortality. Results showed that 47.3% of patients were heterozygous (AG), 36.5% were homozygous for the wild-type allele (AA) and only 16.2% were homozygous for the GG genotype. During the follow-up period, 109 (9.7%) patients died, 77 (6.8%) of CV causes. Survival analysis showed that AA genotype was an independent risk factor for CV mortality compared with reference genotype GG (HR = 2.7, P = 0.025). At the end of follow-up, the estimated survival probability (K-M) was 89.8% for GG genotype, 82.2% for AG and 72.3% for AA genotype (P = 0.039). Carriage of the mutant G allele of the ADAMTS7 gene was associated with improved CV survival in patients with documented CAD. The native overfunctional ADAMTS7 allele (A) may accelerate VSMC migration and lead to neointimal thickening, atherosclerosis progression and acute plaque events. ADAMTS7 gene should be further explored in CAD for risk prediction, mechanistic and therapeutic goals.
- Genetic polymorphisms and coronary artery disease in the portuguese population: the GENEMACOR StudyPublication . Pereira MD PHDs, A; Mendonca, M; Neto, M; Rodrigues, R; Monteiro, Joel; Sousa, A C; Rodrigues, M; Guerra, G; Borges, S; Palma dos Reis, RMultiple studies have showed an association between genetic polymorphisms and the risk of coronary artery disease (CAD). Initially, studies focused mainly in variants acting in pathophysiological axis of CAD or its risk factors. Genome-Wide Association Studies (GWAS) revealed other genes that, besides having an unknown mechanism, are statistically significant. The importance of these in the development of CAD in the Portuguese population is unknown. Objective: Analyze the genetic polymorphisms associated with the development of CAD in a Portuguese population. Methods: We performed a case-control study with 1321 consecutive coronary patients (mean age 53.4 ± 8.1 years, 78.8% male) and 1148 controls (adjusted for age and sex) selected from GENEMACOR Study, an ongoing study designed to analyze the genetic profile of a Portuguese population. We evaluated, in both groups, 29 genetic variants previously associated with CAD: ACE I/D, AGT235 M/T, ATIR A/C, MTHFR C/T and 1298 A/C, PON192 Q/R and 55 L/M,LPA T/C, APO E, Locus 9p21.3 (rs1333049), CDKN2B (rs4977574), GJA4 C/T, PCSK9 A/G, TAS2R50 A/G, KIF6 C/T, IGF2BP2 G/T, ADAMTS7 A/G, MC4R T/C, PPARG Pro12 Ala, ZNF259 C/G, SMAD3 C/T, MIA3 C/A, MTHFD1L A/G, SLC30A8 C/T, TCF7L2 C/T, HNF4 C/G, FTO A/C and ADIPOQ C/G. Allele and genotypic frequencies of individuals with and without CAD were compared and the strength of association was expressed by the OR as well as by CI 95%. Results: The variants rs4340 (ACE I/D), rs266729 (ADIPOQ C/G), rs458560 (PON55 L/M), rs429358 (APOE2), LPA T/C, rs1333049 (locus 9p21.3) and rs4977574 (CDKN2B A/G) were significantly associated with CAD (p<0.05) (Table). Conclusions: In our population, the genetic polymorphisms significantly related to CAD were: ACE, associated with hypertension; ADIPOQ, associated with obesity; PON55, associated with oxidation; APOE and LPA, associated with dyslipidemia and finally the locus 9p21.3 with a unclear mechanism so far.
- A large outbreak of Legionnaires’ Disease in an industrial town in PortugalPublication . George, F; Shivaji, T; Pinto, CS; Serra, LA; Valente, J; Albuquerque, MJ; Vicêncio, PC; San-Bento, A; Diegues, P; Nogueira, PJ; Marques, T; Rebelo, H; Costa, F; Rodrigues, R; Nunes, A; Borges, V; Gomes, JP; Sampaio, D; Barreiro, P; Duarte, S; Carpinteiro, D; Mendonça, J; Silva, C; Vieira, L; Simões, MJ; Gonçalves, P; Nunes, B; Dias, C; Machado, J; Almeida, F; Goncalves, EA; Carvalho, L; Viterbo, P; Jardim, D; Lacasta, N; Boavida, F; Perez, A; Santana, I; Matias, P; Banza, N; Rabacal, CBackground We describe the investigation and control of an outbreak of Legionnaires’ disease in Portugal in October, November and December 2014. Methods Confirmed cases were individuals with pneumonia, laboratory evidence of Legionella pneumophila serogroup 1 and exposure, by residence, occupational or leisure to the affected municipalities. 49 possible sources were reduced to four potential sources, all industries with wet cooling system, following risk assessment. We geo-referenced cases’ residences and the location of cooling towers defining four study areas 10 km buffer centered on each cooling tower system. We compared the number of cases with expected numbers, calculated from the outbreak's attack rates applied to 2011 census population. Using Stones’ Test, we tested observed to expected ratios for decline in risk, with distance up to 10 km four directions. Isolates of Legionella pneumophila were compared using molecular methods. Results We identified 403 cases, 377 of which were confirmed, 14 patients died. Patients became ill between 14 October and 2 December. A NE wind and thermal inversion were recorded during the estimated period of exposure. Disease risk was highest in people living south west from all of the industries identified and decreased with distance (p < 0.001). 71 clinical isolates demonstrated an identical SBT profile to an isolate from a cooling tower. Whole genome sequencing identified an unusual L. pneumophila subsp. fraseri serogroup 1 as the outbreak causative strain, and confirmed isolates’ relatedness. Conclusions Industrial wet cooling systems, bacteria with enhanced survival characteristics and a combination of climatic conditions contributed to the second largest outbreak of Legionnaires’ disease recorded internationally.
- Occupational Health and Its Influence on Job (Dis)SatisfactionPublication . Almeida, F; Rodrigues, R; Moreira, D
- The amount of late gadolinium enhancement outperforms current guideline-recommended criteria in the identification of patients with hypertrophic cardiomyopathy at risk of sudden cardiac deathPublication . Freitas, P; Ferreira, AM; Arteaga-Fernández, E; de Oliveira Antunes, M; Mesquita, J; Abecasis, J; Marques, H; Saraiva, C; Matos, DN; Rodrigues, R; Cardim, N; Mady, C; Rochitte, CEBACKGROUND: Identifying the patients with hypertrophic cardiomyopathy (HCM) in whom the risk of sudden cardiac death (SCD) justifies the implantation of a cardioverter-defibrillator (ICD) in primary prevention remains challenging. Different risk stratification and criteria are used by the European and American guidelines in this setting. We sought to evaluate the role of cardiovascular magnetic resonance (CMR) late gadolinium enhancement (LGE) in improving these risk stratification strategies. METHODS: We conducted a multicentric retrospective analysis of HCM patients who underwent CMR for diagnostic confirmation and/or risk stratification. Eligibility for ICD was assessed according to the HCM Risk-SCD score and the American College of Cardiology Foundation/American Heart Association (ACCF/AHA) algorithm. The amount of LGE was quantified (LGE%) and categorized as 0%, 0.1-10%, 10.1-19.9% and ≥ 20%. The primary endpoint was a composite of SCD, aborted SCD, sustained ventricular tachycardia (VT), or appropriate ICD discharge. RESULTS: A total of 493 patients were available for analysis (58% male, median age 46 years). LGE was present in 79% of patients, with a median LGE% of 2.9% (IQR 0.4-8.4%). The concordance between risk assessment by the HCM Risk-SCD, ACCF/AHA and LGE was relatively weak. During a median follow-up of 3.4 years (IQR 1.5-6.8 years), 23 patients experienced an event (12 SCDs, 6 appropriate ICD discharges and 5 sustained VTs). The amount of LGE was the only independent predictor of outcome (adjusted HR: 1.08; 95% CI: 1.04-1.12; p < 0.001) after adjustment for the HCM Risk-SCD and ACCF/AHA criteria. The amount of LGE showed greater discriminative power (C-statistic 0.84; 95% CI: 0.76-0.91) than the ACCF/AHA (C-statistic 0.61; 95% CI: 0.49-0.72; p for comparison < 0.001) and the HCM Risk-SCD (C-statistic 0.68; 95% CI: 0.59-0.78; p for comparison = 0.006). LGE was able to increase the discriminative power of the ACCF/AHA and HCM Risk-SCD criteria, with net reclassification improvements of 0.36 (p = 0.021) and 0.43 (p = 0.011), respectively. CONCLUSIONS: The amount of LGE seems to outperform the HCM Risk-SCD score and the ACCF/AHA algorithm in the identification of HCM patients at increased risk of SCD and reclassifies a relevant proportion of patients.