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Application of the 6-SNP elevated LDL-cholesterol polygenic risk score in individuals with familial hypercholesterolemia phenotype from an Argentine population.
Gac Med Mex
January 2025
Universidad de Buenos Aires, Facultad de Farmacia y Bioquímica, Departamento de Bioquímica Clínica, Laboratorio de Lípidos y Aterosclerosis, Ciudad Autónoma de Buenos Aires.
Introduction: LDL-cholesterol greater than 190 mg/dL indicates severe hypercholesterolemia (HS) of monogenic and/or polygenic origin. Genetic risk scores (GRS) evaluate potential polygenic causes.
Objective: we applied a GRS of 6-SNP (GRS-6) in HS individuals.
Dyslipidemia: recommendations for diagnosis and treatment at the first level of medical contact.
Gac Med Mex
January 2025
Clínica de Hipertensión y Riesgo Cardiovascular, ISSSTESon, Hermosillo, Sonora. México.
Cardiovascular disease is the main cause of mortality in Mexico as well as the rest of the world, with dyslipidemia being one of the main risk factors. Despite the importance of its epidemiological impact, there is still -among primary care physicians- a lack of knowledge ranging from the basic concepts for diagnosis to the most recent recommendations for treatment. This document consisting of 10 questions is done by experts in this field.
View Article and Find Full Text PDFPredictive parameters of cardiovascular risk in younger school-age children.
Cent Eur J Public Health
December 2024
Department of Public Health and Hygiene, Faculty of Medicine, Pavol Jozef Safarik University in Kosice, Kosice, Slovak Republic.
Objectives: Overweight and obesity are important concerns for global health. They are characterized by excessive fat accumulation that can harm health. Childhood obesity has reached alarming levels around the world due to urbanization and changes in lifestyle.
View Article and Find Full Text PDFContinuous metabolic syndrome score in cardiovascular risk assessment in adolescents.
Cent Eur J Public Health
December 2024
Institute of Hygiene, Faculty of Medicine, Comenius University in Bratislava, Bratislava, Slovak Republic.
Objectives: This study aimed to determine the metabolic syndrome (MS) prevalence in a sample of adolescents, to calculate their continuous metabolic syndrome scores, and to determine the associations of continuous metabolic syndrome score with overweight/obesity and selected cardiometabolic and lifestyle factors.
Methods: We enrolled a sample of 2,590 adolescents (1,180 males, mean age 17.1 ± 1.
The role of lysosomal acid lipase deficiency in dyslipidemia and liver disorders.
Rev Esp Enferm Dig
January 2025
Digestive Diseases, Hospital Universitario Virgen de las Nieves, España.
Cholesterol ester storage disease (CESD) is a rare autosomal recessive lysosomal storage disorder caused by mutations in the LIPA gene, leading to reduced lysosomal acid lipase activity, cholesterol ester accumulation, and systemic manifestations including liver dysfunction and dyslipidemia. We report the case of a 25-year-old male presenting with subacute jaundice, hyperbilirubinemia (total bilirubin 51 mg/dL, predominantly direct), and dyslipidemia characterized by elevated total cholesterol and low HDL cholesterol levels. Initial diagnostic workup for acute hepatitis and liver dysfunction, including serological and imaging studies, was unremarkable.
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