DPSPDNT - Apresentações orais em reuniões nacionais
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- 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.
- 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.
- Estudo de prevalência de determinantes de saúde – estudo e_CORPublication . Alves, Ana CatarinaEstudo e_COR tem como principais objectivos: a) Determinar a prevalência dos principais fatores de risco CV. Factores biológicos (hipertensão arterial, excesso peso/obesidade, dislipidemia,diabetes mellitus); Factores associados ao estilo de vida (tabagismo, inatividade física, dieta inadequada, consumo excessivo de álcool); Factores genéticos (antecedentes familiares de doença cardiovascular prematura); b) Avaliar o conhecimento, tratamento e controlo dos principais fatores de risco c) Determinar o risco CV global (número de fatores de risco por pessoa).
- 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.
- 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).
- Functional studies of LDLR mutationsPublication . Alves, Ana Catarina; Silva, Sónia; Patel, Dilip; Rui, Malhó; Soutar, Anne Katherine; Bourbon, Mafalda
- 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.
- Novel mechanisms causing Familial Hypercholesterolaemia: Functional characterization of variants in the regulatory regions of PCSK9 and LDLR genesPublication . Alves, Ana Catarina; Menezes, JulianeAiM: To define the 5’UTR and promoter regions of the PCSK9 gene, as well as, to perform an in vitro characterization of variants in LDLR and PCSK9 genes in the regulatory regions mentioned above. This project will also contribute to an accurate identification of FH patients allowing for a better patient management.
- Prevalência de Fatores de Risco Cardiovasculares na População PortuguesaPublication . Bourbon, Mafalda; Alves, Ana Catarina; Rato, QuitériaObjetivos geral. Determinar a prevalência dos principais fatores de risco de doenças cérobro-cardiovasculares na população portuguesa, com especial enfoque na dislipidemia e na caracterização do risco cardiovascular genético.
- 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.