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Browsing by Issue Date, starting with "2009-10"

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  • Alpha-1-antitrypsin deficiency in Madeira (Portugal): the highest prevalence in the world
    Publication . Spínola, Carla; Bruges-Armas, Jácome; Pereira, Conceição; Brehm, António; Spínola, Hélder
    Alpha-1-antitrypsin (AAT) deficiency is a common genetic disease which affects both lung and liver. Early diagnosis can help asymptomatic patients to adjust their lifestyle choices in order to reduce the risk of Chronic Obstructive Pulmonary Disease (COPD). The determination of this genetic deficiency prevalence in Madeira Island (Portugal) population is important to clarify susceptibility and define the relevance of performing genetic tests for AAT on individuals at risk for COPD. Two hundred samples of unrelated individuals from Madeira Island were genotyped for the two most common AAT deficiency alleles, PI*S and PI*Z, using Polymerase Chain Reaction-Mediated Site-Directed Mutagenesis. Our results show one of the highest frequencies for both mutations when compared to any already studied population in the world. In fact, PI*S mutation has the highest prevalence (18%), and PI*Z mutation (2.5%) was the third highest worldwide. The frequency of AAT deficiency genotypes in Madeira (PI*ZZ, PI*SS, and PI*SZ) is estimated to be the highest in the world: 41 per 1000. This high prevalence of AAT deficiency on Madeira Island reveals an increased genetic susceptibility to COPD and suggests a routine genetic testing for individuals at risk.
    2009-10Journal article Restricted access Show more
  • Proximity sensing and context-aware content dissemination
    Publication . Camacho, Tiago Alexandre Dias; Kostakos, Vassilis
    With the incorporation of wireless modules into mobile equipment, new opportunities for sensing people and offer them innovative services arise. In this thesis we present a prototype system that uses Bluetooth to perform proximity sensing and context-aware content dissemination. After analysing the sensed data, our system disseminates content by means of a Service Specification Language (SSL) which can describe a set of rich context-aware services. Our results show the usefulness of our system, as we demonstrate that it is a low-cost and flexible alternative to more expensive methods of proximity sensing and content dissemination.
    2009-10-02Master thesis Open access Show more