Identificación de variantes genéticas asociadas a hipercolesterolemia familiar en niños y adolescentes de la Región del Biobío, Chile / Identification of genetic variants associated with familial hypercholesterolemia in Chilean children and adolescents

Background: Familial hypercholesterolemia (FH) is commonly associated with mutations in-LDL receptor (LDLR), apolipoprotein B (APOB) and proprotein convertase subtilisin/kexin type 9 (PCSK9). Aim: To identify genetic variants associated with FH in a population of children and adolescents with hypercholesterolemia or a family history of-demonstrated early CVD. Material and Methods: Clinical and biochemical parameters were evaluated, and nine genes related to FH were sequenced namely LDLR, APOB, PCSK9, LDLRAP1, LIPA, APOE, ABCG5, ABCG8 and STAP1, in 55 children and adolescents aged 1 to 18 years old, from non-consanguineous families. Results: Mutations associated with FH were found in 17 children and adolescents, corresponding to p.Asp47Asn, duplication of exons 13-15 and p.Ser326Cys of the LDLR gene; p.Glu204* and Ile268Met of the APOE gene. Thirteen patients were heterozygous, two homozygous, two compound heterozygous, and one double heterozygous. Conclusions: Children and adolescents carrying mutations associated with FH were found by selective screening, which constitutes the first stage in the identification of genetic variants in our country.

Impacto del Programa de manejo de la obesidad Bright Bodies aplicado a niños y adolescentes chilenos / Effects of the Bright Bodies Program in Chilean obese children

Background: Yale University’s Bright Bodies Program consists on a lifestyle intervention, in areas such as nutrition and exercise, while focusing on behavior modification and family support. Aim: To evaluate the impact of the Program in Chilean children and adolescents with obesity who participated in the Program during 8 months. Material and Methods: The weight management Program was carried out during 8 months and consisted in weekly sessions directed by dietitians or psychologists and exercise sessions twice per week in charge of physical education teachers. The family component was based on sessions for parents or caregivers to achieve the same goals of children activities. Results: Twenty eight obese children aged 9.5 ± 2 years completed the eight months of intervention. There was a significant 5% reduction of body mass index (BMI), a 15% reduction of BMI z score and a 2.9% reduction of waist circumference. Bioelectrical impedance showed a 9% reduction of percentage body fat and a 7% increase in lean body mass. Blood pressure, blood glucose, total and LDL cholesterol and triglycerides decreased significantly, without changes in HOMA-IR. The frequency of metabolic syndrome decreased from 36% at baseline to 18% at the end of the intervention. A 43% reduction in caloric intake and an improvement in physical condition was also observed. Conclusions: The Bright Bodies Program produced significant and positive changes on anthropometric and metabolic parameters in this group of children.

Efecto del estado nutricional neonatal en el riesgo de síndrome metabólico en niños obesos de 2 comunas de la Región del Bío-Bío / Effects of neonatal nutritional status on the risk for metabolic syndrome in Chilean obese children

Background: Neonatal malnutrition defined by birth weight (BW) is a risk factor for obesity and cardio-metabolic diseases in adults. Neonatal ponderal index (NPI) may have better diagnostic value than BW to establish nutritional status. Aim: To determine the effect of neonatal nutritional status, established by the three NPI curves available in Chile, on the risk of Metabolic Syndrome (MS) in obese school children. Material and Methods: A nested case/control study in a sample of 410 obese school children aged 10 to 16 years (57% males) was performed. The dichotomous response variable was the presence of MS defined as International Diabetes Federation (IDF) or Cook’s criteria. The exposure variable was having NPI < percentile (p) 10. Results: The frequency of MS was 36 and 39% according to the IDF and Cook criteria, respectively. The proportion of children with neonatal malnutrition exceeded 20%. A significantly increased risk for MS was only found when PNI was defined according to Lagos´s Table and MS was defined using IDF criteria. Having a PNI > p90, however, showed a trend towards a reduced risk of MS, which only reached significance using Lagos´s Table and Cook´s Criteria. Conclusions: Neonatal malnutrition defined by NPI is common in obese school children. The condition of neonatal under nutrition defined as PNI < p10 may be a risk factor for developing MS. Instead, having a NPI > p90 could be protective.