DPSPDNT - Apresentações orais em reuniões nacionais
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- Hipercolesterolemia FamiliarPublication . Bourbon, MafaldaClinical presentation in Familial hypercholesterolaemia (FH).
- Cascade Screening in Familial Hypercholesterolemia: Adult cascade screening versus CHILD reverse cascade screeningPublication . Miranda, Beatriz; Medeiros, Ana Margarida; Alves, Ana Catarina; Bourbon, MafaldaFamilial hypercholesterolemia (FH) is an inherited lipid disorder that increases the risk of developing cardiovascular disease (CVD). Despite most cascade screening programs are initiated by adult index cases, reverse cascade screening pediatric index cases is starting to be described. Therefore, in this work, we aimed to assess the outcome of both creening strategies (adult cascade screening and child reverse cascade screening) in families from the Portuguese FH Study (PFHS). The PFHS database was consulted, and 423 index cases genetically identified with FH (224 adults and 199 children) and their 997 relatives referred to the PFHS were analysed. From 224 adults with FH, 485 relatives were enrolled for cascade screening and 290 were identified with FH. From 199 paediatric cases with FH, 512 relatives were screened and 286 were identified with FH. Child reverse cascade screening presented a slightly higher diagnostic rate than adult cascade screening, 1.44 vs 1.29 new cases with FH per index case, and the age of the relatives identified was younger, 29 vs 37 years. For 94% of index children, relatives were referred (2.56 relatives per index), in contrast with the adult cohort whereas only 70% were referred with family-members (2.17 relatives per index). Overall, both screening approaches constitute valuable tools to identify new cases with FH, but the child reverse cascade screening notably creates the opportunity for more relatives to be tested at a younger age. However, it remains crucial to improve relatives' recruitment rate since early identification allows a correct FH diagnosis and treatment to prevent CVD.
- Personalized Medicine: towards implementation in healthcarePublication . Cardoso, Maria LuisThe presentation titled "Personalised Medicine: Towards Implementation in Healthcare" explored the integral role of personalized medicine within the broader concept of Person-Centered Care. The fundamental principles guiding this approach include recognizing each individual's uniqueness, addressing their specific needs, ensuring informed consent, and involving them in decisions related to their therapies. Personalized medicine, as defined in the European Council Conclusion on personalized medicine for patients, involves characterizing individuals' phenotypes and genotypes to tailor therapeutic strategies, evaluate predisposition to diseases, and deliver timely prevention. Over the last few decades, significant advancements in genetics, including the development and application of innovative technologies, have led to a profound understanding of genetic information and molecular mechanisms underlying hereditary diseases. The impact of advances in genetic diagnostics and testing on healthcare has been substantial, resulting in more efficient and accurate testing methods. The transition from genetics to genomics has particularly influenced healthcare systems globally, giving rise to genomic medicine. The benefits of genomic medicine encompass accurate diagnosis, reduced number of medical appointments, exams and the long "diagnostic odyssey, personalized cancer treatment based on genetic profiles, improved effectiveness and reduced adverse drug reactions through pharmacogenomics, and evaluation of genetic risk profiles for chronic diseases. Genomic data has also facilitated the matching of patients with appropriate clinical trials, contributing to more equitable treatments for diverse ethnicities. The presentation emphasized that genomics is already enabling precise prediction, diagnosis, and treatment of diseases. The Declaration of Cooperation, "Towards access to at least 1 million sequenced genomes in the EU by 2022," was highlighted. Signed by the Portuguese Ministry of Health in 2018, the initiative involves 25 EU countries, the UK, and Norway. Its primary goal is to provide secure access to genomic and clinical data across Europe, fostering collaborative investigation of diseases and enhancing the competitiveness of the EU in predictive, preventive, and participatory healthcare. The strategy to achieve the 1+MG initiative includes obtaining clinical data from patients and general citizens, with the Genome of Europe Project contributing with at least 500,000 genomes. This multi-country project aims to build a collective reference genome cohort representing the genetic composition of the European population. In 2021, the Portuguese government established the multidisciplinary Commission PT-MedGen to define the roadmap for implementing the Portuguese National Strategy for Genomic Medicine. This strategy aligns with the 1+MG initiative, outlining objectives, stages, activities, goals, deadlines, expected results, and investment needs for the successful implementation of genomic medicine in Portugal.
- e_LIPID–Characterization of hypercholesterolemia and association with cardiovascular disease in the Portuguese populationPublication . Chora, Joana Rita; Alves, Ana Catarina; Mariano, Cibelle; Antunes, Marília; Rato, Quitéria; Bourbon, MafaldaThe e_LIPID study aimed to characterise the lipid profile of the Portuguese population and study its association with cardiovascular disease (CV D) events. Demographic, clinical, and biochemical data derived from the e_COR Study, a cross-sectional epidemiological study with 1688 adults (18-79 years old) from five Portuguese continental regions. Population specific percentiles for lipid and lipoprotein biomarkers were esmated stratified by sex and age. All calculations were weighted by sex, age, and geographic region to be representative of the mainland Portuguese population. Odds ratio was calculated to study association of biochemical profile with CV D. Associations of total cholesterol (TC), LDL, ApoB and non-HDL were performed only on individuals under no lipid-lowering therapy. Individuals with LDL above the 9th5 percentile and fulfilling Simon-Broome criteria of Familial Hypercholesterolemia (FH) were sequenced for LDLR, APOB and PCSK9. National prevalence of individuals with TC≥190mg/dl were 52.4%, with LDL≥116mg/dl were 53.9%, with ApoB≥90mg/dl were 53.8%, with non- HDL≥146mg/dl were 38.9%, and with Lp(a)≥125nmol/L were 21.1%. The 90th percentile for lipid and lipoprotein biomarkers for the Portuguese population are TC of 244mg/dl, LDL of 169mg/dl, ApoB of 128mg/dl, non-HDL of 193mg/dl, and Lp(a) of 223nmol/L. The 10th percentile for HDL is 38mg/dl. Individuals with LDL≥116mg/dl presented 2.50 [1.13-6.07] higher odds of having had CV D events (p=0.018), with non-HDL≥146mg/dl had 2.06 [1.01-4.31] higher odds (p=0.041), and with high Lp(a)≥125nmol/L had 1.77 [1.13-2.72] higher odds (p=0.008) than their respective counterparts. From the 33 individuals sequenced 3 individuals were found to have heterozygous FH. Population age and sex specific values are important for dyslipidaemia assessment. Having LDL≥116mg/dl, non-HDL≥146mg/dl or Lp(a) ≥125nmol/L can double the odds of CV D. Our results highlight that hypercholesterolemia is a neglected cardiovascular risk factor with more than 50% of the population with TC≥190mg/dl, LDL≥116mg/dl, or ApoB≥90mg/dl. Since hypercholesterolemia is a modifiable risk factor in the majority of cases, strategies to increase adherence to changes in lifestyle habits need to be urgently discussed.
- Sofrimento psicológico e seus determinantes em contexto da pandemia na população geral e em profissionais de saúde: Análise longitudinal em PortugalPublication . Heitor, Maria João; Caldas de Almeida, Teresa; Santos, Osvaldo; Fialho, Mónica; Costa, Alexandra; Virgolino, Ana; Rasga, Célia; Martiniano, Hugo; Vicente, AstridAnálise longitudinal em Portugal sobre o sofrimento psicológico e seus determinantes em contexto da pandemia na população geral e em profissionais de saúde.
- Saúde Mental em Tempos de Pandemia COVID-19Publication . Heitor, Maria João; Caldas de Almeida, Teresa; Santos, Osvaldo; Fialho, Mónica; Costa, Alexandra; Virgolino, Ana; Rasga, Célia; Martiniano, Hugo; Vicente, AstridObjetivo: Apresentar resultados do Projeto SM-COVID19 e integrar painel de discussão dedicado ao tema do impacto da pandemia COVID-19 na Saúde Mental.
- Genomics of adverse drug reactionsPublication . Cardoso, Maria LuísAdverse events related to COVID-19 vaccination have been hotly debated since the beginning of this year. However, despite the general interest on COVID-19 vaccines adverse events, they are much less frequent than adverse drug reactions (ADRs) occurring with other classes of drugs. ADRs are an important cause of morbidity and mortality with high economic, personal and societal consequences. The susceptibility of experiencing such events is dependent on environmental, clinical and genetic factors. There has been significant progress in the context of ADRs investigation. Most of the genes currently studied code for metabolizing enzymes or transporters that influence drugs pharmacokinetics. The identification of variants in these genes allows the categorization of patients as poor, intermediate, extensive, and ultra-fast metabolizers. To a lesser extent, the genes coding for drug targets, pharmacodynamics, are also examined. Recent studies have revealed associations between some human leukocyte antigens (HLA) and predisposition to immune-mediated ADRs too. Genomic testing can help to predict and prevent ADRs, improving the benefit /risk ratio of drug therapy. We expect that our research will contribute with important evidence and tools to promote pharmacogenomics use in healthcare system for ADRs prevention.
- Cardiovascular risk estimation and management in Familial Hypercholesterolemia patientsPublication . Chora, J.R.; Medeiros, A.M.; Alves, A.C.; Bourbon, M.Objectives and study samples: - Estimate cardiovascular disease (CVD) risk; - What are the lipid-lowering therapy (LLT) strategies; - How many are reaching LDL-C targets; … in Familial Hypercholesterolemia (FH) patients and in the Portuguese general population
- Rare dyslipidaemias associated with LDL cholesterol valuesPublication . Alves, Ana Catarina; Miranda, Beatriz; Bourbon, Mafalda; em nome dos investigadores do estudo de dislipidemia familiaresIntroduction: Dyslipidaemia is a disorder of lipid metabolism, characterized by either an increase or decrease in lipid particles; Most hyperlipidaemia confer an increased cardiovascular risk; hypolipidaemia, such as abeta or hypobetalipoproteinemia, may present different manifestations ranging from poor weight progression to neurological manifestations.
- Estudo Longitudinal da Exposição Ambiental a Toxinas (ELEAT): interações gene-ambiente na Perturbação do Espetro do AutismoPublication . Moura Vicente, AstridSobre interações gene-ambiente na Perturbação do Espetro do Autismo.