275 documents found, page 1 of 28
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...
Overweight, Obesity, And Cardiovascular Disease In Heterozygous Familial Hyperc...
Elshorbagy, Amany; Vallejo-Vaz, Antonio J.; Barkas, Fotios; Lyons, Alexander R.M.; Stevens, Christophe A.T.; Dharmayat, Kanika I.; Catapano, Alberico L.Background and aims: Overweight and obesity are modifiable risk factors for atherosclerotic cardiovascular disease (ASCVD) in the general population, but their prevalence in individuals with heterozygous familial hypercholesterolaemia (HeFH) and whether they confer additional risk of ASCVD independent of LDL cholesterol (LDL-C) remains unclear. Methods: Cross-sectional analysis was conducted in 35 540 patients ...
Unveiling the Role of APOB Variants in Familial Hypercholesterolemia: Functiona...
Ferreira, Maria Simões; Ramos, Diana; Rato, Inês; Jannes, Cinthia E.; Larrea-Sebal, Asier; Martín, César; Bourbon, Mafalda; Alves, Ana CatarinaFamilial hypercholesterolemia (FH) is a condition characterized by increased LDL cholesterol levels with APOB variants accounting for about 5-10% of FH cases. However, variants in this gene may be more common than initially estimated since the entire APOB gene has only recently started to be sequenced. Although most of the alterations are missense, nonsense variants and small indels in exon 29 were also identif...
Hipercolesterolemia Familiar
Bourbon, MafaldaClinical presentation in Familial hypercholesterolaemia (FH).
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...
The Functional Landscape Of Coding Variation In The Familial Hypercholesterolem...
Tabet, Daniel R.; Coté, Atina G.; Lancaster, Megan C.; Weile, Jochen; Rayhan, Ashyad; Fotiadou, Iosifina; Kishore, Nishka; Li, Roujia; Kuang, DaVariants in the familial hypercholesterolemia gene -the most important genetic driver of cardiovascular disease-can raise circulating low-density lipoprotein (LDL) cholesterol concentrations and increase the risk of premature atherosclerosis. Definitive classifications are lacking for nearly half of clinically encountered missense variants, limiting interventions that reduce disease burden. Here, we tested the ...
Functional characterization of 16 variants found in the LDL receptor gene
Konečná, Kateřina; Přerovská, Tereza; Loja, Tomáš; Fajkusová, Lenka; Koutná, Jana; Kramárek, Michal; Alves, Ana Catarina; Bourbon, MafaldaFamilial hypercholesterolemia (FH) is a disorder of cholesterol metabolism characterized by elevated LDL-cholesterol levels. The most common cause of FH is pathogenic variants in the LDL receptor (LDLR) gene. To shed light on the functional impact of selected LDLR variants, we functionally characterized 16 LDLR genetic variants alongside 10 control variants. We performed in vitro assays based on transient expre...
Rare variants at KCNJ2 are associated with LDL-cholesterol levels in a cross-po...
Rossi, Niccolò; Syed, Najeeb; Visconti, Alessia; Aliyev, Elbay; Berry, Sarah; Bourbon, Mafalda; Spector, Tim D.; Hysi, Pirro G.; Fakhro, Khalid A.Leveraging whole genome sequencing data of 1751 individuals from the UK and 2587 Qatari subjects, we suggest here an association of rare variants mapping to the sour taste-associated gene KCNJ2 with reduced low-density lipoprotein cholesterol (LDL-C, P = 2.10 × 10-12) and with a 22% decreased dietary trans-fat intake. This study identifies a novel candidate rare locus for LDL-C, adding insights into the genetic...
Practical Recommendations for the Diagnosis and Management of Lysosomal Acid Li...
de Las Heras, Javier; Almohalla, Carolina; Blasco-Alonso, Javier; Bourbon, Mafalda; Couce, Maria-Luz; de Castro López, María JoséLysosomal acid lipase deficiency (LAL-D) is an ultra-rare lysosomal storage disease with two distinct phenotypes, an infantile-onset form (formerly Wolman disease) and a later-onset form (formerly cholesteryl ester storage disease). The objective of this narrative review is to examine the most important aspects of the diagnosis and treatment of LAL-D and to provide practical expert recommendations. The infantil...