Relationship of PON1 192 and 55 gene polymorphisms to calcific valvular aortic stenosis

Introduction and Objectives - Paraoxonases may exert anti-atherogenic action by reducing lipid peroxidation. Previous studies examined associations between polymorphisms in the paraoxonase 1 (PON1) gene and development of coronary artery disease (CAD), with inconsistent results. Given the similarities in clinical and pathophysiological risk factors of CAD and calcific aortic valve stenosis (CAVS), we postulated a link between PON1 alleles and CAVS progression. Methods - We investigated the association between PON1 55 and 192 single nucleotide polymorphisms (SNPs), their enzyme activity, and CAVS progression assessed by aortic valve area and transvalvular peak velocity in 67 consecutive patients with moderate CAVS and 251 healthy controls. Results - PON1 paraoxonase activity was higher in CAVS patients (P<0.001). The PON1 genotype Q192R SNP (P=0.03) and variant allele (R192) (P=0.01) frequencies differed between CAVS patients and controls. Significant association existed between PON1 enzyme activity, phenotypic effects of PON1 192 genotype polymorphisms, and CAVS progression, but not between PON1 55 and high-density lipoprotein (P=0.44) or low-density lipoprotein cholesterol (P=0.12), between 192 genotype and high-density lipoprotein (P=0.24) or low-density lipoprotein cholesterol (P=0.52). Conclusion - The PON1 genotype Q192R SNP has an important effect on CAVS disease progression. This study helps outline a genotype-phenotype relationship for PON1 in this unique population.

Avaliação ecocardiográfica da insuficiência mitral concomitante, na substituição valvular aórtica isolada: é possível prevê-la?

Mestrado em Tecnologia de Diagnóstico e Intervenção Cardiovascular - Ramo de especialização: Ultrassonografia Cardiovascular

Psychological well-being and perception of disease severity in people with multiple sclerosis, who underwent a program of self-regulation to promote physical activity

Rehabilitation is very important for in the results of treatment in individuals with multiple sclerosis. Rehabilitation processes occur through gradual changes. These changes integrate intrinsic and extrinsic mechanisms of the individual, promoting adaptations to the needs and activities of daily living according to individual goals. Recommendations for exercise in multiple sclerosis: these recommendations apply only to patients with EDSS less than 7; moderate intensity aerobic exercise for a total of 20 to 30 minutes, twice or three times for week; the resistance training with low or moderate intensity is well tolerated by patients with MS; associated with these exercises were recommended flexibility exercises of moderate intensity, as well as strengthening exercises. The aim of this study is to examine the implications of the program of self-regulation in the perception of illness and mental health (psychological well-being domain) in multiple sclerosis patients.

Severity and exposure associated with tsunami actions in urban waterfronts: the case of Lisbon, Portugal

The Tagus estuary is bordered by the largest metropolitan area in Portugal, the Lisbon capital city council. It has suffered the impact of several major tsunamis in the past, as shown by a recent revision of the catalogue of tsunamis that struck the Portuguese coast over the past two millennia. Hence, the exposure of populations and infrastructure established along the riverfront comprises a critical concern for the civil protection services. The main objectives of this work are to determine critical inundation areas in Lisbon and to quantify the associated severity through a simple index derived from the local maximum of momentum flux per unit mass and width. The employed methodology is based on the mathematical modelling of a tsunami propagating along the estuary, resembling the one occurred on the 1 November of 1755 that followed the 8.5 M-w Great Lisbon Earthquake. The employed simulation tool was STAV-2D, a shallow-flow solver coupled with conservation equations for fine solid phases, and now featuring the novelty of discrete Lagrangian tracking of large debris. Different sets of initial conditions were studied, combining distinct tidal, atmospheric and fluvial scenarios, so that the civil protection services were provided with comprehensive information to devise public warning and alert systems and post-event mitigation intervention. For the most severe scenario, the obtained results have shown a maximum inundation extent of 1.29 km at the AlcA cent ntara valley and water depths reaching nearly 10 m across Lisbon's riverfront.