A5035020002- Lipoproteins and Cardiovascular Health
- Cancer, Lipids, and Metabolism
- Diabetes, Cardiovascular Risks, and Lipoproteins
- Lipid metabolism and disorders
- Genetic factors in colorectal cancer
- Genetic Associations and Epidemiology
- Liver Disease Diagnosis and Treatment
- RNA and protein synthesis mechanisms
- Youth, Drugs, and Violence
- Obesity, Physical Activity, Diet
- RNA Research and Splicing
- Growth Hormone and Insulin-like Growth Factors
- Atherosclerosis and Cardiovascular Diseases
- Cardiac Valve Diseases and Treatments
- Cholesterol and Lipid Metabolism
- Imbalanced Data Classification Techniques
- Cardiovascular Health and Risk Factors
- Systemic Sclerosis and Related Diseases
- Brazilian Legal Issues
- Chronic Lymphocytic Leukemia Research
- Artificial Intelligence in Healthcare
- Liver Disease and Transplantation
- Health and Medical Research Impacts
- Genomics and Rare Diseases
- Diet and metabolism studies
University of Lisbon
2015-2024
Centro Universitário São Lucas
2024
Instituto Politécnico de Lisboa
2024
Lusíada University of Lisbon
2024
National Institute of Health Dr. Ricardo Jorge
2012-2021
European Atherosclerosis Society
2021
Universidade do Porto
2020
Administração Regional de Saúde de Lisboa e Vale do Tejo
2018-2020
Instituto Nacional de Saúde
2016-2019
Hospitais da Universidade de Coimbra
2018
PurposeFamilial hypercholesterolemia (FH) is an autosomal disorder of lipid metabolism presenting with increased cardiovascular risk. Although more than 1,700 variants have been associated FH, the great majority not functionally proved to affect low-density lipoprotein receptor cycle. We aimed classify all described FH and establish proportion that lack evidence support their pathogenicity.MethodsWe followed American College Medical Genetics Genomics (ACMG) guidelines for classification,...
Objective: Homozygous familial hypercholesterolemia is a rare disease usually caused by LDLR (low-density lipoprotein receptor) mutations. characterized markedly elevated LDL-C cholesterol) levels and an extremely high risk of premature atherosclerotic cardiovascular disease. A phase 2, proof-of-concept study (NCT02265952) demonstrated that evinacumab, fully human monoclonal antibody to ANGPTL3 (angiopoietin-like 3 protein), reduced in 9 patients with genotypically confirmed homozygous was...
Abstract Familial hypercholesterolaemia (FH) is characterized by increased circulating low-density lipoprotein (LDL) cholesterol leading to premature atherosclerosis and coronary heart disease. Although FH usually caused mutations in LDLR, APOB PCSK9 also cause but only a few have been reported, p.R3527Q being the most common. However, 30–80% of clinical patients do not present an identifiable mutation any described genes. To identify genetic 65 without or fragments exon 26 29 currently...
Abstract Background & Aims Liver steatosis measurement by controlled attenuation parameter ( CAP ) is a non‐invasive method for diagnosing steatosis, based on transient elastography. Its usefulness as screening procedure hepatic in general population has not been previously evaluated. The aim of this study was to evaluate the diagnostic accuracy and fatty liver index FLI detection quantification population. Methods Recruitment done from prospective epidemiological adult Steatosis...
Lysosomal acid lipase deficiency (LALD) is an autosomal recessive disorder and unrecognized cause of dyslipidemia. Patients usually present with dyslipidemia altered liver function mutations in LIPA gene are the underlying LALD.The aim this study was to investigate LALD individuals severe and/or steatosis.Coding, splice regions, promoter region were sequenced by Sanger sequencing a cohort mutation-negative familial hypercholesterolemia (FH) patients (n = 492) population sample comprising...
Familial hypercholesterolemia (FH) is a common autosomal codominant disease with frequency of 1∶500 individuals in its heterozygous form. The genetic basis FH most commonly mutations within the LDLR gene. Assessing pathogenicity variants particularly important to give patient definitive diagnosis FH. Current studies activity ex vivo are based on analysis 125I-labeled lipoproteins (reference method) or fluorescent-labelled LDL. main purpose this study was compare effectiveness these two...
Abstract Familial hypercholesterolaemia (FH) is an inherited autosomal dominant disorder resulting from defects in the low-density lipoprotein receptor ( LDLR ), apolipoprotein B APOB ) or proprotein convertase subtilisin/kexin type 9 PCSK9 genes. In majority of cases FH caused by mutations occurring within , while only few and have been proved to cause disease. p.(Arg3527Gln) was first mutation being identified characterized. Recently two novel pathogenic variants described: p.(Arg1164Thr)...
Characterize homozygous familial hypercholesterolemia (HoFH) individuals from Iberoamerica. Approach and Results: In a cross-sectional retrospective evaluation 134 with HoFH phenotype, 71 adults (age 39.3±15.8 years, 38.0% males), 63 children 8.8±4.0 50.8% males) were studied. Genetic characterization was available in 129 (96%). The majority (91%) true homozygotes (true HoFH, n=79, 43.0% children, 46.8% or compound heterozygotes (compound heterozygous hypercholesterolemia, n=39, 51.3% 46.2%...
Familial hypercholesterolemia (FH) is the most common inherited life-threatening disorder of lipid metabolism. Early diagnosis and treatment are key to reduce cumulative life-long cardiovascular burden patients with FH. The high number LDLR variants described as unknown significance largest obstacle achieve a definitive FH diagnosis. This study established time- cost-effective high-throughput cell-based assay functionally profile variants, which allowed us discriminate disruptive rare from...
O objetivo desse estudo foi verificar os níveis de insatisfação corporal, atividade física e sentimentos depressivos do público feminino jovem adulto, com idade entre 19 – 25 anos, residentes da cidade Rio Janeiro. Esse se caracteriza como transversal descritiva. Nessa pesquisa, criado um formulário no Google Forms contendo três questionários (IPAQ, BDI BSQ), disponibilizado por duas semanas divulgado através das redes sociais. Tivemos uma amostra 28 mulheres, obtendo seguintes resultados:...
Familial hypercholesterolemia (FH) results from defective low-density lipoprotein receptor (LDLR) activity, mainly due to <i>LDLR</i> gene defects. Of the many different mutations found in patients with FH, about 6% of single base substitutions are located near or within introns, and predicted result exon skipping, retention an intron, activation cryptic sites during mRNA splicing. This paper reports on Portuguese FH Study, which 10 such mutations, 6 them novel. For that have not been...
Abstract Familial hypercholesterolaemia (FH) is a monogenic disorder characterised by high low‐density lipoprotein cholesterol (LDL‐C) concentrations and increased cardiovascular risk. However, in clinically defined FH cohorts worldwide, an FH‐causing variant only found 40%‐50% of the cases. The aim this work was to characterise genetic cause phenotype Portuguese clinical patients. Between 1999 2017, 731 index patients (311 children 420 adults) who met Simon Broome diagnostic criteria had...
Esta pesquisa explora a integração de teorias científicas, filosóficas e teológicas para estabelecer uma base teórica sólida validação futura da Teoria Predestinação. A temática centra-se na relação entre previsibilidade, causalidade agentes conscientes, abordando o desafio reconciliar perspectivas divergentes em um modelo unificado. Contextualizada avanços recentes, como as do multiverso caos determinista, enfrenta problemática sintetizar tradições diversas visão multidimensional. O...
A pesquisa aborda a validação empírica da Teoria Predestinação, que propõe predestinação, previsibilidade e imutabilidade vida humana, analisando sua aplicabilidade nos processos cognitivos comportamentais. contextualização destaca relevância de integrar abordagens psicossociais terapias alternativas com métodos computacionais avançados, considerando lacunas na literatura científica. problemática investigada envolve necessidade construir instrumentos originais para validar as hipóteses...