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 la asociación entre polimorfismo rs9939609 del gen FTO y obesidad en niños chilenos de origen amerindio / Effects of neonatal undernutrition on the association of obesity with rs9939609 polymorphism of FTO gene among Amerindian children

The presence of A allele in FTO gene is associated with a higher risk of obesity. Aim: to investigate the effect of neonatal nutritional status on the association between FTO gene rs9939609 variant and obesity in a cohort of Chilean children with Amerindian ancestry. Material and Methods: using birth registries, the neonatal ponderal index of 238 obese and 136 normal weight children was calculated. Nutritional status of participants was determined using cutoff points proposed by the Center for Disease Control. FTO polymorphism was measured by real time polymerase chain reaction. Results: the presence of FTO A allele was associated with a higher risk of obesity (odds ratio (OR) 1.87 95 percent confidence intervals (CI) 1.14-3.06, p < 0.01). The effect of this allele was only significant among males. The risk of obesity associated with A allele presence was non-significantly higher among males with a neonatal ponderal index below percentile 10, as compared with their counterparts with a neonatal ponderal index above this value (OR 5.65 95 percent CI 0.87-60.4). A logistic regression analyzing the presence of A allele as a risk factor for obesity using neonatal nutritional status and gender as control variables, did not substantially change the results. Conclusions: there is a non-significant effect of neonatal undernutrition on the risk of obesity conferred by the presence of A allele of FTO gene...

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.

Asociación entre polimorfismos del gen de adiponectina y estado nutricional en escolares de la comuna de Hualpén / Association between adiponectin gene polymorphisms and obesity in school age children from Hualpén, Chile

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.

Epidemiología del sobrepeso y obesidad infanto-juvenil en las comunas de Concepción, Coronel y Hualpén, VIII Región de Chile / Frequency of obesity and overweight among school age children living in southern Chile

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 percent 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 percent and 6.5 percent, respectively. According to IOTF criteria, the fgures were 13.2 and 4 percent, 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.

Hipotiroidismo congénito: evaluación neurológica y sicométrica / Congenital hypothyroidism: neurologic and psichometric evaluation

Se analizan 22 niños portadores de HTC,cuyo diagnóstico se formula sobre bases clínicas y se confirma posteriormente por exámenes de laboratório. El 95% de los niños presenta alterciones neurológicas de intensidad variable, el 91% tiene un CI inferior al normal y el 59% de ellos necesita educación especial

Hiperinsulinismo en recién nacido / Hyperinsulinismo in a newborn infant

Se describen 2 pacientes, recién nacidos, con hipoglicemia secundaria a hiperinsulinemia. Se confirmó la hipersecreción de la hormona mediante radioinmunoanálisis en el plasma. Se extirpó 95% del tejido pancreático en ambos casos, lográndose el control de la hipoglicemia. Los dos pacientes tuvieron hiperglicemia transitoria en las primeras horas después de la operación, pero diez días más tarde sus insulinemias y glicemias eran normales y tres meses después mostraban desarrollos pondoestaturales y psicomotrices adecuados. El estudio histológidco preliminar reveló nesidioblastosis y leve componente de displasia endocrina en uno de los casos y displasia endocrina con leve componente de nesidioblastosis en el otro