Browsing by Author "Dussaillant, Catalina"

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    Una alimentación poco saludable se asocia a mayor prevalencia de síndrome metabólico en la población adulta chilena : estudio de corte transversal en la Encuesta Nacional de Salud 2009-2010
    (2015) Dussaillant, Catalina; Echeverria, Guadalupe; Villarroel del Pino, Luis A.; Marín Larraín, Pedro Paulo; Rigotti Rivera, Attilio
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    APOA5 Q97X Mutation Identified through homozygosity mapping causes severe hypertriglyceridemia in a Chilean consanguineous family
    (2012) Dussaillant, Catalina; Serrano Larrea, Valentina; Maiz Gurruchaga, Manuel Alberto; Eyheramendy Duerr, Susana; Cataldo Bascuñan, Luis Rodrigo; Smalley Meylan, Susan Valerie; Rigotti Rivera, Attilio; Rubio, Lorena.; Lagos Arévalo, Carlos Fernando; Santos Martín, José Luis
    Abstract Background Severe hypertriglyceridemia (HTG) has been linked to defects in LPL, APOC2, APOA5, LMF1 and GBIHBP1 genes. However, a number of severe HTG cases are probably caused by as yet unidentified mutations. Very high triglyceride plasma levels (>112 mmol/L at diagnosis) were found in two sisters of a Chilean consanguineous family, which is strongly suggestive of a recessive highly penetrant mutation. The aim of this study was to determine the genetic locus responsible for the severe HTG in this family. Methods We carried out a genome-wide linkage study with nearly 300,000 biallelic markers (Illumina Human CytoSNP-12 panel). Using the homozygosity mapping strategy, we searched for chromosome regions with excess of homozygous genotypes in the affected cases compared to non-affected relatives. Results A large homozygous segment was found in the long arm of chromosome 11, with more than 2,500 consecutive homozygous SNP shared by the proband with her affected sister, and containing the APOA5/A4/C3/A1 cluster. Direct sequencing of the APOA5 gene revealed a known homozygous nonsense Q97X mutation (p.Gln97Ter) found in both affected sisters but not in non-affected relatives nor in a sample of unrelated controls. Conclusion The Q97X mutation of the APOA5 gene in homozygous status is responsible for the severe hypertriglyceridemia in this family. We have shown that homozygosity mapping correctly pinpointed the genomic region containing the gene responsible for severe hypertriglyceridemia in this consanguineous Chilean family.
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    Consumo de huevo y diabetes mellitus tipo 2: Una revisión de la literatura científica
    (2017) Dussaillant, Catalina; Echeverría Errázuriz, Guadalupe; Rozowski Narkunska, Samuel Jaime; Velasco Fuentes, Nicolas; Arteaga Ll., Antonio; Rigotti Rivera, Attilio
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    Consumo de huevo y enfermedad cardiovascular: una revisión de la literatura científica
    (2017) Dussaillant, Catalina; Echeverría Errázuriz, Guadalupe; Rozowski Narkunska, Samuel Jaime; Velasco Fuentes, Nicolas; Arteaga Ll., Antonio; Rigotti Rivera, Attilio
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    Validación de cuestionario autoaplicable para un índice de alimentación mediterránea en Chile
    (2016) Echeverría Errázuriz, Guadalupe; Urquiaga Reus, Inés; Concha, María José; Dussaillant, Catalina; Villarroel del Pino, Luis A.; Velasco Fuentes, Nicolas; Leighton, Federico; Rigotti Rivera, Attilio
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    Validation of self-applicable questionnaire for a Mediterranean dietary index in Chile
    (SOC MEDICA SANTIAGO, 2016) Echeverria, Guadalupe; Urquiaga, Ines; Jose Concha, Maria; Dussaillant, Catalina; Villarroel, Luis; Velasco, Nicolas; Leighton, Federico; Rigotti, Attilio
    Background: Availability of brief dietary indexes that can effectively evaluate dietary patterns and their association with health is critical for prevention and management of several chronic disease conditions. Aim: To adapt a self-applicable Mediterranean Dietary Index in Chile (Chilean-MDI). Material and Methods: The Chilean-MDI was developed based on a previous Mediterranean eating score that was adapted to Chilean dietary habits. This index was further validated in a sample of 153 adults by comparing the concordance between the results obtained by self-application of the Chilean-MDI with those obtained by a trained nutritionist. Additionally, the index was applied in a sample of 53,366 Chilean adults in order to describe the diet quality of our population. Results: There was an adequate concordance between findings obtained by self-application of the Chilean-MDI and those achieved by the nutritionist. The application of the index in Chilean adult population showed abetter diet quality (high Mediterranean diet adherence) among women, with advanced age and among people with higher educational levels. Conclusions: The Chilean-MDI can be successfully self-applied to portray the overall diet quality in the Chilean adult population. Additionally, this dietary index describes overall food intake in Chilean adults, showing demographic trends that are comparable to those obtained with similar indexes applied in other populations.