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  • Rural–urban differences in healthcare utilization across different outcomes in Portugal
    Publication . Martinho, Júlia; Leite, Andreia
    Background: Urbanization influences healthcare access and utilization, contributing to health disparities. This study aims to assess the effect of degree of urbanization on healthcare utilization in Portugal, where urbanization levels are above global average. Methods: Utilizing data from the 2019 National Health Survey, this cross-sectional study analyzed the association between degree of urbanization and outcomes including general and specialist consultations, flu vaccination, colonoscopy, and wait times. Adjusted prevalence ratios (aPR) were estimated using Poisson regression models. Results: Less populated areas had increased wait times (aPR = 1.54; 95% confidence intervals [95% CI]: 1.06-2.24) and lower colonoscopy utilization (aPR = 0.86; 95% CI: 0.78-0.95). Flu vaccination rates were higher in rural (aPR = 1.15; 95% CI: 1.03-1.30) and suburban areas (aPR = 1.16; 95% CI: 1.04-1.30). No significant association was found for general/specialist consultations or excessive wait times. Conclusions: Geographic constraints limit healthcare access in less populated areas. Urban areas showed suboptimal flu vaccination rates, suggesting a need for improved immunization strategies. Addressing geographical disparities is crucial for ensuring equitable healthcare access across Portugal.
    2025-10-02Artigo científico Acesso restrito Ver mais
  • Lyso-GB3: Usefulness and limitations
    Publication . da Silva Gaspar, Paulo Jorge Miranda
    A lecture on Fabry Disease: A Rare Genetic Disorder.
    2025-10-02Palestra Acesso aberto Ver mais
  • Allele frequency distribution of clinically relevant pharmacogenetic variants across European populations: A Scoping Review
    Publication . Simões, Raquel D.; Cardoso, Maria L.; Martiniano, Hugo F. M. C.; Vicente, Astrid M.
    Review of the literature on the distribution of pharmacogenetic variants in European populations.. Pharmacogenetics (PGx) is the study of how genetic variants affect drug metabolism, transport and target interactions, impacting efficacy and risk of adverse reactions. PGx variants can affect either pharmacokinetics – the processes of drug absorption, distribution, metabolism and elimination of drugs -or pharmacodynamics - the biochemical and physiological effects of drugs and their mechanisms of action. Pharmacokinetics gene variants often define haplotypes, which are described using the star (*) allele nomenclature for genes such as those in the Cytochrome P450 (CYP450) family. This results in phenotypes of normal, rapid, ultrarapid or poor metabolisers, leading to various drug responses 1. In recognition of the importance of understanding the clinical impact of PGx variants, the Clinical Pharmacogenetics Implementation Consortium (CPIC) has developed guidelines that translate PGx test results into clinical recommendations for drug dosing 2. Reports in the literature of ancestrality differences in drug response highlight the need for a broader investigation of PGx variants, namely in CYP450 genes, across diverse groups.
    2025-10-02Documento de conferência Acesso restrito Ver mais
  • Fabry Newborn screening: challenges and risks
    Publication . Marcão, Ana
    Communication about Challenges and Risks of Newborn Screening.
    2025-10-02Documento de conferência Acesso aberto Ver mais