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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.

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.

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.

Background: Several genetic polymorphisms of adiponectin have been associated to metabolic diseases as obesity and co-morbidities., Aim: To investigate if there are associations between +45TG, +276GT, -11,377CG y -11,391GA adiponectin SNPs (single nucleotide polymorphism) with obesity in a Chilean children population., Material and Methods: A case-control study was performed in 241 obese and 126 normal weight children (7-11 years old) from the urban community of Hualpén, Biobío region. Children were classified as normal or obese, according to age and gender-specificpercentiles defined by Centerfor Disease Control and Prevention (CDC). The analysis of serum markers was carried out using commercial kits. Adiponectin polymorphisms were determined through a High Resolution Melting (HRM)-enabled real time PCR and by DNA fragment sequencing., Results: The observed allelic frequencies of the studied SNPs were over 11%. The 11,377CG polymorphism was associated with a high risk of obesity, calculated by the additive inheritance model (odds ratio = 1.389, 95% confidence interval: 1.001-1.929,p = 0.049)., Conclusions: Obese school children of the Biobío Region, have an increased risk of carrying the susceptibility allele polymorphism 11377CG of adiponectin gene.

Background: The frequency of obesity is increasing steadily in Chile., Aim: To assess the prevalence of obesity and overweight in children and teenagers living in three southern Chilean cities., Material and Methods: The database of an evaluation performed in 2006 in schools, was used to obtain weight and height of 32514 subjects aged 12 ± 4 years (48% males). Criteria proposed by the International Obesity Task Force (IOTF) and the Centers for Disease Control (CDC) were used to define obesity and overweight., Results: According to CDC criteria the prevalence of overweight and obesity was 11.2% and 6.5%, respectively. According to IOTF criteria, the fgures were 13.2 and 4%, respectively. The higher frequency of overweight and obesity was observed among children aged less than eight years., Conclusions: There is a high frequency of obesity and overweight in the studied sample.

Background: Type 1 diabetes (DM1) is caused by an autoimmune process that destroys beta cells of pancreas. Not all carriers of susceptible HLA genes and positive for autoantibodies develop the disease. Environmental factors play a role in triggering the autoimmune process., Aim: To analyze an exceptional case of DM1 in a Mapuche family in the context of genetic, immunological and environmental factors., Subjects and Methods: A study of a family with an affected female child was carried out in a Mapuche community in Southern Chile (VIII region). This is an unique and sporadic DM1 case with Mapuche heritage. Nutritional and viral infections data were collected by interview and clinical records. A genetic analysis by PCR was done to detect class I and II HLA genes by reverse dot blot., Results: The proband, her mother and sister had positive islet cell antibodies (ICA). Her father and brother were negative. All thefamily was positive for anti glutamic decarboxylase antibodies (GAD65). All subjects had HLA-DRB1 0407/0407 and HLA-DQB1 0302/0302 alleles. The index case and her father were homozygotes for the HLA-A1:A*68012/A*68012 allele. Mean breastfeeding lapse was 18 months in all children. No evidences for viral infections such as rubella, mumps or measles were found in this family., Conclusions: There was an altered profile of autoantibodies in the family of the index case. All genotypes were comparable with the European population where the diabetogenic combination DR4/DQB1*0302 is the most prevalent. No environmental factors could be incriminated as triggers of the disease.