Please use this identifier to cite or link to this item:
http://sgc.anlis.gob.ar/handle/123456789/1639
DC Field | Value | Language |
---|---|---|
dc.contributor.author | Alves, Ana Catarina | es |
dc.contributor.author | Alonso, Rodrigo | es |
dc.contributor.author | Diaz-Diaz, José Luís | es |
dc.contributor.author | Medeiros, Ana Margarida | es |
dc.contributor.author | Jannes, Cinthia E | es |
dc.contributor.author | Merchan, Alonso | es |
dc.contributor.author | Vasques-Cardenas, Norma A | es |
dc.contributor.author | Cuevas, Ada | es |
dc.contributor.author | Chacra, Ana Paula | es |
dc.contributor.author | Krieger, Jose E | es |
dc.contributor.author | Arroyo, Raquel | es |
dc.contributor.author | Arrieta, Francisco | es |
dc.contributor.author | Schreier, Laura | es |
dc.contributor.author | Corral, Pablo | es |
dc.contributor.author | Bañares, Virginia | es |
dc.contributor.author | Araujo, Maria B | es |
dc.contributor.author | Bustos, Paula | es |
dc.contributor.author | Asenjo, Sylvia | es |
dc.contributor.author | Stoll, Mario | es |
dc.contributor.author | Dell'Oca, Nicolás | es |
dc.contributor.author | Reyes, Maria | es |
dc.contributor.author | Ressia, Andrés | es |
dc.contributor.author | Campo, Rafael | es |
dc.contributor.author | Magaña-Torres, Maria T | es |
dc.contributor.author | Metha, Roopa | es |
dc.contributor.author | Aguilar-Salinas, Carlos A | es |
dc.contributor.author | Ceballos-Macias, José J | es |
dc.contributor.author | Ruiz Morales, Álvaro J | es |
dc.contributor.author | Mata, Pedro | es |
dc.contributor.author | Bourbon, Mafalda | es |
dc.contributor.author | Santos, Raul D | es |
dc.date.accessioned | 2020-08-12T17:35:00Z | - |
dc.date.available | 2020-08-12T17:35:00Z | - |
dc.date.issued | 2020-10 | - |
dc.identifier.issn | 1524-4636 | - |
dc.identifier.uri | http://sgc.anlis.gob.ar/handle/123456789/1639 | - |
dc.description | Fil: Alves, Ana Catarina. Instituto Nacional de Saúde Doutor Ricardo Jorge, Lisboa; Portugal. | es |
dc.description | Fil: Alonso, Rodrigo. Center for Advanced Metabolic Medicine and Nutrition, Santiago; Chile. | es |
dc.description | Fil: Diaz-Diaz, José Luís. Hospital Universitario A Coruña. Department of Internal Medicine; España. | es |
dc.description | Fil: Medeiros, Ana Margarida. Instituto Nacional de Saúde Doutor Ricardo Jorge, Lisboa; Portugal. | es |
dc.description | Fil: Jannes, Cinthia E. University of São Paulo. Medical School. Hospital São Paulo. Heart Institute (InCor); Brasil. | es |
dc.description | Fil: Merchan, Alonso. Fundación Clinica SHAIO, Cardiología, Bogotá; Colombia. | es |
dc.description | Fil: Vasques-Cardenas, Norma A. Universidad Autónoma de Guadalajara. Facultad de Medicina Zapopan; México. | es |
dc.description | Fil: Cuevas, Ada. Center for Advanced Metabolic Medicine and Nutrition, Santiago; Chile. | es |
dc.description | Fil: Chacra, Ana Paula. University of São Paulo. Medical School. Hospital São Paulo. Heart Institute (InCor); Brasil. | es |
dc.description | Fil: Krieger, Jose E. University of São Paulo. Medical School. Hospital São Paulo. Heart Institute (InCor); Brasil. | es |
dc.description | Fil: Arroyo, Raquel. Fundación Hipercolesterolemia Familiar, Madrid; España. | es |
dc.description | Fil: Arrieta, Francisco. Hospital Ramón y Cajal. Departamento de Endocrinología, Madrid; España. | es |
dc.description | Fil: Schreier, Laura. Universidad de Buenos Aires. Facultad de Farmacia y Bioquímica. Departamento de Bioquímica Clínica, Laboratorio de Lípidos y Aterosclerosis; Argentina. | es |
dc.description | Fil: Corral, Pablo. Universidad FASTA. Facultad de Medicina. Cátedra Farmacología e Investigación, Mar del Plata; Argentina. | es |
dc.description | Fil: Bañares, Virginia. ANLIS Dr.C.G.Malbrán. Centro Nacional de Genética Médica. Departamento de Genética Experimental; Argentina. | es |
dc.description | Fil: Araujo, Maria B. Hospital Garrahan. Servicio de Nutrición; Argentina. | es |
dc.description | Fil: Bustos, Paula. Universidad de Concepción. Facultad de Farmacia; Chile. | es |
dc.description | Fil: Asenjo, Sylvia. Universidad de Concepción. Facultad de Medicina; Chile. | es |
dc.description | Fil: Stoll, Mario. Programa GENYCO, Laboratorio de Genética Molecular. Comisión Honoraria de Salud Cardiovascular, Montevideo; Uruguay. | es |
dc.description | Fil: Dell'Oca, Nicolás. Programa GENYCO, Laboratorio de Genética Molecular. Comisión Honoraria de Salud Cardiovascular, Montevideo; Uruguay. | es |
dc.description | Fil: Reyes, Maria. Fundación Cardiovascular de Colombia. Cardiología; Bogotá. | es |
dc.description | Fil: Ressia, Andrés. Fundación Cardiovascular de Colombia. Cardiología; Bogotá. | es |
dc.description | Fil: Campo, Rafael. Instituto Mexicano del Seguro Social. Centro de Investigación Biomédica del Occidente, Guadalajara; México. | es |
dc.description | Fil: Magaña-Torres, Maria T. Instituto Nacional de Ciencias Médicas y Nutrición. Unidad de Investigación de Enfermedades Metabólicas; México. | es |
dc.description | Fil: Metha, Roopa. Instituto Nacional de Ciencias Médicas y Nutrición. Unidad de Investigación de Enfermedades Metabólicas; México. | es |
dc.description | Fil: Aguilar-Salinas, Carlos A. Instituto Nacional de Ciencias Médicas y Nutrición Salvador Zubirán. Departamento de Endocrinología y Metabolismo. Secretaría de la Defensa Nacional. Unidad de Especialidades Médicas. Servicio de Endocrinología; México. | es |
dc.description | Fil: Ceballos-Macias, José J. Pontificia Universidad Javerina. Facultad de Medicina. Departamento de Medicina Interna, Bogotá; Colombia. | es |
dc.description | Fil: Ruiz Morales, Álvaro J. Pontificia Universidad Javerina. Facultad de Medicina. Departamento de Medicina Interna, Bogotá; Colombia. | es |
dc.description | Fil: Mata, Pedro. Fundación Hipercolesterolemia Familiar, Madrid; España. | es |
dc.description | Fil: Bourbon, Mafalda. Instituto Nacional de Saúde Doutor Ricardo Jorge, Lisboa; Portugal. | es |
dc.description | Fil: Santos, Raul D. University of São Paulo. Medical School. Hospital São Paulo. Heart Institute (InCor); Brasil. | es |
dc.description.abstract | OBJECTIVE: Characterize homozygous familial hypercholesterolemia (HoFH) individuals from Iberoamerica. APPROACH AND RESULTS: In a cross-sectional retrospective evaluation 134 individuals with a HoFH phenotype, 71 adults (age 39.3±15.8 years, 38.0% males), and 63 children (age 8.8±4.0 years, 50.8% males) were studied. Genetic characterization was available in 129 (96%). The majority (91%) were true homozygotes (true HoFH, n=79, 43.0% children, 46.8% males) or compound heterozygotes (compound heterozygous familial hypercholesterolemia, n=39, 51.3% children, 46.2% males) with putative pathogenic variants in the LDLR. True HoFH due to LDLR variants had higher total (P=0.015) and LDL (low-density lipoprotein)-cholesterol (P=0.008) compared with compound heterozygous familial hypercholesterolemia. Children with true HoFH (n=34) tended to be diagnosed earlier (P=0.051) and had a greater frequency of xanthomas (P=0.016) than those with compound heterozygous familial hypercholesterolemia (n=20). Previous major cardiovascular events were present in 25 (48%) of 52 children (missing information in 2 cases), and in 43 (67%) of 64 adults with LDLR variants. Children who are true HoFH had higher frequency of major cardiovascular events (P=0.02), coronary heart (P=0.013), and aortic/supra-aortic valve diseases (P=0.022) than compound heterozygous familial hypercholesterolemia. In adults, no differences were observed in major cardiovascular events according to type of LDLR variant. From 118 subjects with LDLR variants, 76 (64%) had 2 likely pathogenic or pathogenic variants. In 89 subjects with 2 LDLR variants, those with at least one null allele were younger (P=0.003) and had a greater frequency of major cardiovascular events (P=0.038) occurring at an earlier age (P=0.001). CONCLUSIONS: There was a high frequency of cardiovascular disease even in children. Phenotype and cardiovascular complications were heterogeneous and associated with the type of molecular defect. | es |
dc.format | - | |
dc.language.iso | en | es |
dc.relation.ispartof | Arteriosclerosis, thrombosis, and vascular biology | es |
dc.rights | Open Access | - |
dc.rights | Creative Commons Attribution 4.0 International License | - |
dc.rights.uri | http://creativecommons.org/licenses/by/4.0/ | - |
dc.source | Arteriosclerosis, Thrombosis, and Vascular Biology 2020;40(10):2508-2515 | - |
dc.subject | Aterosclerosis | es |
dc.subject | Enfermedad Coronaria | es |
dc.subject | Colesterol | es |
dc.subject | Hipercolesterolemia | es |
dc.subject | Fenotipo | es |
dc.title | Phenotypical, Clinical, and Molecular Aspects of Adults and Children With Homozygous Familial Hypercholesterolemia in Iberoamerica | es |
dc.type | Artículo | es |
dc.identifier.doi | 10.1161/ATVBAHA.120.313722 | - |
anlis.essnrd | 1 | - |
item.openairecristype | http://purl.org/coar/resource_type/c_18cf | - |
item.cerifentitytype | Publications | - |
item.grantfulltext | open | - |
item.openairetype | Artículo | - |
item.fulltext | With Fulltext | - |
item.languageiso639-1 | en | - |
crisitem.author.dept | Administración Nacional de Laboratorios e Institutos de Salud “Dr. Carlos G. Malbrán” (ANLIS) | - |
crisitem.author.dept | Centro Nacional de Genética Médica (CeNaGeM) | - |
crisitem.author.parentorg | Administración Nacional de Laboratorios e Institutos de Salud “Dr. Carlos G. Malbrán” (ANLIS) | - |
Appears in Collections: | Publicaciones CeNaGeM |
Files in This Item:
File | Description | Size | Format | |
---|---|---|---|---|
ArteriosclerosisThrombosisandVascularBiology_2020_40_10_p2508-p2515.pdf | 281.73 kB | Adobe PDF | View/Open |
Page view(s)
39
checked on May 2, 2024
Download(s)
118
checked on May 2, 2024
Google ScholarTM
Check
Altmetric
Altmetric
This item is licensed under a Creative Commons License