Publications by authors named "O Guardamagna"
: The Mediterranean diet (MD) has been shown to have cardioprotective effects, as demonstrated in adults, but data on hyperlipidemic children are scanty. This study assessed the impact of MD adherence, evaluated with the updated KIDMED score, on the lipid profiles of pediatric patients affected by primary hyperlipidemias. This retrospective study included data on 157 children (mean age: 10.
View Article and Find Full Text PDFBackground And Aims: Cardiovascular diseases (CVD) risk factors include high cholesterol. Children with total cholesterol (TC) levels ≥ 170 mg/dL are usually considered hypercholesterolemic. This study aimed at investigating the awareness of TC levels in a large Italian paediatric population and at looking for a possible correlation between their TC and TC in their parents' blood.
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- Familial hypercholesterolemia (FH) is characterized by high LDL-cholesterol levels and increased risk for cardiovascular diseases, with a potential polygenic basis in cases lacking identifiable genetic mutations.
- In a study involving 418 patients suspected of having FH, next-generation sequencing was used to identify pathogenic variants in FH-related genes, revealing different LDL cholesterol levels and genetic score patterns between patients with (V+) and without (V-/USV-) these variants.
- The research highlighted that the 12-SNP and 6-SNP polygenic scores can help explain hypercholesterolemia in patients without pathogenic variants, while also accounting for LDL-c variability among those with known FH-causing mutations.
Background: The diagnosis of familial hypercholesterolemia (FH) in children is primarily based on main criteria including low-density lipoprotein cholesterol (LDL-C) levels, increased in the proband and relatives, and its inheritance. Two other relevant parameters are symptoms, rarely occurring in children, as rare are the FH homozygous patients, and the mutation detection of related genes. The latter allows the final diagnosis, although it is not commonly available.
View Article and Find Full Text PDFRationale: The prevention of cardiovascular (CV) disease is mandatory from childhood onwards. Among biochemical markers related to the clinical cardiovascular outcome, LDL cholesterol (LDL-C), non-HDL-C and apolipoprotein B (ApoB) are recognized as main target parameters. Emphasis on ApoB concentrations is growing, as representative of any class of atherogenic lipoprotein.
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