10 documents found, page 1 of 1
Hipercolesterolemia familiar homozigótica em Portugal: caracterização de casos ...
Medeiros, Ana Margarida; Alves, Ana Catarina; Miranda, Beatriz; Chora, Joana Rita; Aguiar, Patrício; Amaro, Mário; Bruges, Margarida; Ferreira, SofiaHipercolesterolemia Familiar (FH) é uma condição autossómica semidominante causada por variantes patogénicas ou provavelmente patogénicas nos genes LDLR, APOB e PCSK9. A FH pode apresentar-se na forma monoalélica (FH heterozigótica) ou bialélica (FH homozigótica). A forma homozigótica é mais rara e com fenótipo mais grave. Indivíduos com FH homozigótica geralmente apresentam hipercolesterolemia severa (LDL>400m...
Sitosterolemia In iberoamerican countries: 16 new cases and phenotype genotype ...
Alves, Ana Catarina; Chora, Joana Rita; Miranda, Beatriz; Medeiros, Ana Margarida; Graça, Rafael; Bañares, Virginia G.; Araujo, Maria BeatrizBackground: Sitosterolemia is a rare autosomal recessive lipid disorder caused by biallelic pathogenic variants in ABCG5 or ABCG8 genes. It is characterized by elevated plasma plant sterol concentrations, xanthomas, and an increased risk of premature cardiovascular disease. As happens with familial hypercholesterolemia (FH), sitosterolemia is subdiagnosed and is frequently confounded with FH, resulting in inapp...
Proposal of a Familial Hypercholesterolemia Pediatric Diagnostic Score (FH-PeDS)
Kafol, Jan; Miranda, Beatriz; Sikonja, Rok; Sikonja, Jaka; Wiegman, Albert; Medeiros, Ana Margarida; Alves, Ana Catarina; Freiberger, TomasBackground and aims: Familial hypercholesterolemia (FH) significantly increases cardiovascular risk from childhood yet remains widely underdiagnosed. This cross-sectional study aimed to evaluate existing pediatric FH diagnostic criteria in real-world cohorts and to develop two novel diagnostic tools: a semi-quantitative scoring system (FH-PeDS) and a machine learning model (ML-FH-PeDS) to enhance early FH detec...
Estudo Português de Hipercolesterolemia Familiar (1999-2021): relação fenótipo-...
Medeiros, Ana Margarida; Alves, Ana Catarina; Chora, Joana Rita; Miranda, Beatriz; Bourbon, MafaldaA Hipercolesterolemia Familiar (FH) é uma condição genética comum do metabolismo dos lípidos, que se encontra subdiagnosticada. Existem três genes primários associados à FH (LDLR, APOB e PCSK9) e 5 genes fenocópias (LDLRAP1, LIPA, ABCG5, ABCG8 e APOE), que conferem um fenótipo semelhante à FH. Neste trabalho pretende-se apresentar a relação fenótipo-genótipo dos indivíduos com critérios clínicos de FH referenci...
Rare primary dyslipidaemias associated with low LDL and HDL cholesterol values ...
Alves, Ana Catarina; Miranda, Beatriz; Moldovan, Oona; Espírito Santo, Raquel; Gouveia Silva, Raquel; Soares Cardoso, Sandra; Diogo, LuísaDyslipidaemia represents a group of disorders of lipid metabolism, characterized by either an increase or decrease in lipid particles, usually associated with triglycerides, LDL cholesterol (LDL-C) and/or HDL cholesterol (HDL-C). Most hyperlipidaemias and HDL deficiencies confer an increased cardiovascular risk, while hypolipidaemia, such as abeta or hypobetalipoproteinemia, may present different manifestations...
Unraveling the genetic background of individuals with a clinical familial hyper...
Medeiros, Ana Margarida; Alves, Ana Catarina; Miranda, Beatriz; Chora, Joana Rita; Bourbon, Mafalda; investigators of the Portuguese FH StudyFamilial hypercholesterolemia (FH) is a common genetic disorder of lipid metabolism caused by pathogenic/likely pathogenic variants in LDLR, APOB, and PCSK9 genes. Variants in FH-phenocopy genes (LDLRAP1, APOE, LIPA, ABCG5, and ABCG8), polygenic hypercholesterolemia, and hyperlipoprotein (a) [Lp(a)] can also mimic a clinical FH phenotype. We aim to present a new diagnostic tool to unravel the genetic background...
Cascade Screening in Familial Hypercholesterolemia: Adult cascade screening ver...
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 ...
Therapeutic use of VR serious games in the treatment of negative schizophrenia ...
Miranda, Beatriz; Moreira, Pedro Miguel; Romero, Luís; Rego, Paula AlexandraSchizophrenia is a chronic brain disorder that affects 1 in every 300 people worldwide. This study intended to perform a systematic review to describe the state-of-the-art of interventions involving patients with negative symptoms of schizophrenia that use Virtual Reality (VR) games as a complement to therapy, and to analyze the key features of such games. Literature research was conducted in three databases, n...
Familial chylomicronemia syndrome in Portugal
Alves, Ana Catarina; Miranda, Beatriz; Sequeira, Sílvia; Moldovan, Oana; Nunes, Catarina; Antunes, Henedina; Martins, Esmeralda; Gonçalves, RuteFamilial chylomicronemia syndrome (FCS) is a rare autosomal recessive disorder of lipoprotein metabolism. It is characterized by marked elevation of triglyceride and chylomicron levels, lipaemic plasma, recurrent pancreatitis, eruptive xanthoma, hepatosplenomegaly, andliapemiaretinalis. All genes associated with FCS (LPL, APOC2, APOA5, LMF1 and GPHBP1) have an effect on the activity of lipoprotein lipase (LPL)....
Rare dyslipidaemias associated with LDL cholesterol values
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.