DPSPDNT - Apresentações orais em reuniões nacionais
URI permanente para esta coleção:
Navegar
Entradas recentes
- Estrogen Metabolism in Schistosomiasis-associated Cancer and InfertilityPublication . Botelho, MónicaCommunication on estrogen metabolism in cancer and schistosomiasis-associated infertility.
- Avaliação da Boas Práticas em Laboratórios de Países de Língua PortuguesaPublication . Martinello, Flávia; Seidler, Alice B.; Menezes, Maria Elisabeth; Correia, Helena; Leal, Silvania; Miranda, Armandina; Faria, Ana PaulaIntrodução: Os laboratórios desempenham um papel fundamental no rastreio, diagnóstico, prognóstico e tratamento de doenças. Para que um resultado laboratorial seja útil, é necessário garantir a sua qualidade. Neste contexto, não existem dados disponíveis sobre as boas práticas adotadas pelos laboratórios nos países de língua portuguesa (PLP). Esta informação é essencial para a formulação de políticas e estratégias de formação dirigidas a este público-alvo. Objetivo: Identificar e avaliar a adesão às boas práticas laboratoriais por parte dos laboratórios de análises clínicas nos PLP. Métodos: Foi aplicado um questionário digital, constituído por 47 questões sobre boas práticas laboratoriais e gestão da qualidade, enviado a participantes do Programa Nacional de Avaliação Externa da Qualidade de Portugal e a outros laboratórios envolvidos no Projeto de Melhoria da Qualidade Laboratorial para os PLP - ProMeQuaLab, com exceção do Brasil. A recolha de dados decorreu de forma anónima entre 7 de julho e 30 de setembro de 2024, tendo os resultados sido analisados estatisticamente. Resultados: Participaram no estudo 59 laboratórios (ambulatório e hospitalar), dos quais 5 instituições não autorizaram a divulgação dos seus dados, ainda que de forma anónima. Entre os 54 laboratórios incluídos, a maioria era de Portugal (39; 72%), seguida de Cabo Verde (9; 16%), Guiné-Bissau (4; 7%), São Tomé e Príncipe (1; 2%), e 1 laboratório não especificou o país de origem. Um total de 68% dos laboratórios indicou possuir um sistema de gestão implementado, sendo que metade destes está certificada. A maioria pertence ao setor público (63%), dispõe de um profissional responsável pelo sistema de gestão (85%), realiza um plano anual de formação (85%), utiliza indicadores de qualidade nas fases pré-analítica (87%) e pós-analítica (83%), e efectua controlo de qualidade interno (85%) e externo (89%). Foram contudo identificadas oportunidades de melhoria, uma vez que apenas 59% registam as causas de rejeição de resultados de amostras de controlo, 65% desenvolvem uma matriz de competências, 66% constroem cartas de controlo e 72% recorrem a especificações de qualidade para avaliar o desempenho analítico. Conclusão: Os laboratórios portugueses foram os que mais contribuíram para estes resultados. As boas práticas laboratoriais encontram-se implementadas, mas subsistem oportunidades de melhoria. A promoção de ações de formação e a maior participação de laboratórios dos PLP poderão contribuir para a implementação e harmonização das boas práticas laboratoriais, reforçando a garantia da qualidade dos resultados e a segurança do doente.
- Familial Partial Lipodystrophy, Dunnigan- type: 2 families identified in a genetic laboratoryPublication . Alves, Ana Catarina; Medeiros, Ana Margarida; Ferreira, Maria; Miranda, Beatriz; Moldavan, Oana; Travessa, André; Rodrigues, Márcia; Bourbon, MafaldaLipodystrophies are a clinically heterogeneous group of acquired or inherited disorders affecting adipose tissue distribution. familial partial lipodystrophy, Dunnigan-type (FPLD2, OMIM 151660) is the most prevalent subtype and is an autosomal dominant disease characterized by the selective absence of adipose tissue in the extremities and trunk, with fat accumulation in the face, neck, and supraclavicular region. Individuals exhibit a muscular, hypertrophic appearance, particularly in the lower limbs. Affected individuals are born with a normal fat distribution but may present hyperlipidemia in childhood and begin to progressively lose subcutaneous fat after puberty. Later in life, they frequently develop metabolic complications, including hypertriglyceridemia, insulin resistance, diabetes mellitus, hepatic steatosis, and hypertension. In women, acanthosis nigricans, hirsutism, menstrual irregularities, and polycystic ovarian disease are commonly observed. Notably, the phenotype appears more pronounced in females, potentially leading to underdiagnosis in males due to lighter physical changes. Approximately 75% of patients with a clinical diagnosis of FPLD2 reported in the literature carry the same LMNA variant, p.(Arg482Trp) in exon 6 of the Lamina gene (LMNA) The aim of this study was to clinically and molecularly characterize two Portuguese families with a clinical diagnosis of lipodystrophy. We present the clinical and genetic characterization of two kindreds with multiple affected family members of different ages. Sequencing of the LMNA gene was performed by PCR and direct sequencing of all exons. Both index cases were found to carry the most common LMNA variant in heterozygosity p.(Arg482Trp), a missense variant in exon 6. Family screening identified six additional heterozygous carriers in Family I (including two children) and four in Family II (including one children). Both index cases were women and exhibited the characteristic of FPLD2 phenotype. Given the high prevalence of premature and severe cardiovascular events in these patients, early diagnosis is crucial for implementing appropriate treatment strategies and preventing disease progression. The genetic diagnosis allows for an earlier diagnosis, granting a better clinical counselling regarding lifestyle modifications since adolescence and a personalized treatment plan to reduce their risk of coronary heart disease (CHD).
- Base Legal para a Implementação da Iniciativa 1 Milhão de Genomas (1+MG) WorkshopPublication . Vicente, Astrid MouraThe 1+ Million Genomes initiative has the potential to improve disease prevention, allow for more personalised treatments and support groundbreaking research. The '1+ Million Genomes' (1+MG) initiative aims to enable secure access to genomics and the corresponding clinical data across Europe for better research, personalised healthcare and health policy making. Since the Digital Day 2018, 22 EU countries, the UK and Norway signed Member States’ declaration on stepping up efforts towards creating a European data infrastructure for genomic data and implementing common national rules enabling federated data access. The initiative forms part of the EU’s agenda for the Digital Transformation of Health and Care and is aligned with the goals of the European Health Data Space.
- Deteção e Identificação de Variantes de Hemoglobina: A Experiência com um Teste POCT - GAZELLEPublication . Fernandes, Lilia; Seuanes, Filomena; Vieira, Cristina; Martins, Silvia; Samuel, Luzia; Chico, Marta; Costa, Alcina; Miranda, ArmandinaAvaliar o desempenho de um teste point-of-care (POCT) - Gazelle, um teste rápido de eletroforese de acetato de celulose na deteção e identificação de variantes de Hb, em comparação com os métodos de diagnóstico utilizados no laboratório, para uma futura implementação deste equipamento em países Africanos. O POCT - Gazelle demonstrou uma elevada sensibilidade para a deteção de Hb S e poderá ser uma potencial ferramenta de rastreio para o diagnóstico rápido desta variante nos países em desenvolvimento, onde é altamente prevalente e constitui um grave problema de saúde.
- Familial Chylomicronemia Syndrome: Clinical and Molecular Data From a Portuguese CohortPublication . Alves, Ana Catarina; Ferreira, Maria; Ferreira, Ana Cristina; Padeira, Gonçalo; Gaspar, Ana; Duarte, João Sequeira; Rato, Quitéria; Gonçalves, Filipa Sousa; Aguiar, Patrício; Cruz, Diogo; Raimundo, Anabela; Bourbon, MafaldaFamilial Chylomicronemia Syndrome (FCS) is a rare autosomal recessive disorder caused by biallelic variants in LPL, APOC2, GPIHBP1, APOA5, or LMF1. These defects impair triglyceride-rich lipoprotein hydrolysis, leading to xanthomas, abdominal pain, hepatomegaly, lipemia retinalis, and recurrent pancreatitis. Multifactorial Chylomicronemia Syndrome (MCS) often results from monoallelic variants in these genes and/or a high polygenic risk score, presenting a similar phenotype; thus, genetic testing is required for accurate differentiation. This study aimed to clinically and genetically characterize 45 individuals with severe hypertriglyceridemia in Portugal. Lipid profile and molecular analysis of the five canonical genes were performed. Moulin’s score was applied in 17 cases. The mean pretreatment triglyceride level was 2570 mg/dL. Sixteen individuals had pancreatitis, four had hepatomegaly, and three both conditions. Ten cases carried biallelic variants: five in LPL (three identical, two compound heterozygous), one in APOC2, one frameshift in LMF1, one frameshift and one stop in APOA5, and one total exon 4 deletion in GPIHBP1 (all identical variants). All were classified as “very likely FCS” by Moulin’s score. Twenty-one individuals had heterozygous variants in LPL, APOA5, LMF1, and GPIHBP1 and were considered MCS; three of them also scored as “very likely FCS.” Ten patients had negative genetic studies (five scored as “unlikely FCS”), and four remain under investigation. Early recognition of FCS is crucial to prevent life-threatening complications. A confirmed molecular diagnosis enables precise distinction between FCS and MCS, improving management and prognosis. These findings underscore the importance of incorporating genetic testing into the diagnostic workup of severe hypertriglyceridemia in Portugal.
- Homozygous Familial Hypercholesterolaemia: Insights From Portuguese Cases and Follow-up DataPublication . Medeiros, Ana Margarida; Alves, Ana Catarina; Miranda, Beatriz; Chora, Joana Rita; Aguiar, Patrício; Amaro, Mário; Bruges, Margarida; Ferreira, Sofia; Furtado, António; Gaspar, Ana; Gonçalves, Filipa Sousa; Lobarinhas, Goreti; Lourenço, Guilherme; Martins, Paula; Antunes, Sofia Moura; Palma, Isabel; Rato, Quitéria; Torres, Diogo; Rico, Miguel Toscano; Travessa, André; Bourbon, MafaldaAims: Present the clinical/genetic and follow-up data on individuals genetically identified with HoFH.
- 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.