[Triponderal mass index and markers of metabolic risk in children and adolescents with obesity]. / Índice de masa triponderal y marcadores de riesgo metabólico en niños y adolescentes con obesidad.

BACKGROUND AND OBJECTIVE: Triponderal mass index (TMI) would estimate excess adiposity better than body mass index (BMI), maintaining stable values during childhood. This work aims to determine the correlation between TMI and markers of metabolic risk as well as set values of TMI that are related to an increase of metabolic risk. MATERIAL AND METHODS: Multicenter, observational, cross-sectional and prospective study in children under 14 years of age with obesity. VARIABLES: age, sex, pubertal stage, weight, height, abdominal circumference, BMI, TMI, basal glucose and insulin, HOMA index, blood pressure, lipoprotein profile, transaminases and uric acid. BMI and TMI were expressed according to the values of the Barcelona longitudinal study. Statistical analysis was performed with the SPSS* program. RESULTS: One hundred and ninety-nine patients (50.3% male), age 11.08 (2.48) years, TMI 19.68 (2.36)kg/m3. Correlation between TMI and abdominal circumference (r=0.571; p=0), insulin (r=0.198; p=0.005), HOMA index (r=0.189; p=0.008) and HDL-c (r=-0.188; p=0.008) was observed. IMT>20.15kg/m3 was associated with insulin≥15mIU/ml (p=0.029) and IMT>20.36kg/m3 with HDL-c<40mg/dl (p=0.023). CONCLUSIONS: TMI was correlated with increase of abdominal circumference, insulin and HOMA index and decrease of HDL-c. IMT>20kg/m3 can be associated with increased insulin and decreased HDL-c. Therefore, the IMT seems to be a useful parameter in the assessment of pediatric patients with obesity.

A Novel c.968C > T homozygous Mutation in the Polynucleotide Kinase 3' - Phosphatase Gene Related to the Syndrome of Microcephaly, Seizures, and Developmental Delay.

Microcephaly is defined by a head circumference that is at least two standard deviations below the mean for age and sex of the general population in a specific race. Primary microcephaly may occur as an isolated inborn error, which may damage to the central nervous system or as part of the congenital abnormalities associated with genetic syndrome, affecting multiple organ systems. One of the syndromic forms consists of microcephaly, seizures, and developmental delay caused by biallelic mutations in the gene that encode polynucleotide kinase 3' - phosphatase protein (PNKP). In this article, we reported a newborn male who presented with microcephaly, severe developmental delay, and early-onset refractories seizures, caused by a novel homozygous mutation of the PNKP gene.