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Metabolic syndrome (MetS) is defined as a cluster of alterations related with insulin resistance (obesity, dyslipidemia, hypertension, and impaired glucose metabolism), which are associated with a higher risk of cardiovascular disease in adults. Several definitions have been proposed for older children and adolescents. However, no definitions have been made in accordance with pubertal status, and those in prepubertal state have not received attention enough, despite there are data suggesting the early presence of risk factors. The new insights concerning healthy and unhealthy metabolic status or the addition of novel metabolic risk biomarkers, may contribute to the knowledge about the development of MetS in children. This manuscript reviews the available evidence on MetS during childhood, focusing on the prepubertal period.

Encephalomyopathic mitochondrial DNA (mtDNA) depletion syndrome 13 (MTDPS13) is a rare genetic disorder caused by defects in F-box leucine-rich repeat protein 4 (FBXL4). Although FBXL4 is essential for the bioenergetic homeostasis of the cell, the precise role of the protein remains unknown. In this study, we report two cases of unrelated patients presenting in the neonatal period with hyperlactacidemia and generalized hypotonia. Severe mtDNA depletion was detected in muscle biopsy in both patients. Genetic analysis showed one patient as having in compound heterozygosis a splice site variant c.858+5G>C and a missense variant c.1510T>C (p.Cys504Arg) in FBXL4. The second patient harbored a frameshift novel variant c.851delC (p.Pro284LeufsTer7) in homozygosis. To validate the pathogenicity of these variants, molecular and biochemical analyses were performed using skin-derived fibroblasts. We observed that the mtDNA depletion was less severe in fibroblasts than in muscle. Interestingly, the cells harboring a nonsense variant in homozygosis showed normal mtDNA copy number. Both patient fibroblasts, however, demonstrated reduced mitochondrial transcript quantity leading to diminished steady state levels of respiratory complex subunits, decreased respiratory complex IV (CIV) activity, and finally, low mitochondrial ATP levels. Both patients also revealed citrate synthase deficiency. Genetic complementation assays established that the deficient phenotype was rescued by the canonical version of FBXL4, confirming the pathological nature of the variants. Further analysis of fibroblasts allowed to establish that increased mitochondrial mass, mitochondrial fragmentation, and augmented autophagy are associated with FBXL4 deficiency in cells, but are probably secondary to a primary metabolic defect affecting oxidative phosphorylation.

Molecular diagnosis is a useful diagnostic tool in primary nephrogenic diabetes insipidus (NDI), an inherited disease characterized by renal inability to concentrate urine. The AVPR2 and AQP2 genes were screened for mutations in a cohort of 25 patients with clinical diagnosis of NDI. Patients presented with dehydration, polyuria-polydipsia, failure to thrive (mean ± SD; Z-height -1.9 ± 2.1 and Z-weight -2.4 ± 1.7), severe hypernatremia (mean ± SD; Na 150 ± 10 mEq/L), increased plasma osmolality (mean ± SD; 311 ± 18 mOsm/Kg), but normal glomerular filtration rate. Genetic diagnosis revealed that 24 male patients were hemizygous for 17 different putative disease-causing mutations in the AVPR2 gene (each one in a different family). Of those, nine had not been previously reported, and eight were recurrent. Moreover, we found those same AVPR2 changes in 12 relatives who were heterozygous carriers. Further, in one female patient, AVPR2 gene study turned out to be negative and she was found to be homozygous for the novel AQP2 p.Ala86Val alteration.Genetic analysis presumably confirmed the diagnosis of nephrogenic diabetes insipidus in every patient of the studied cohort. We emphasize that we detected a high presence (50 %) of heterozygous females with clinical NDI symptoms.• In most cases (90 %), inherited nephrogenic diabetes insipidus (NDI) is an X-linked disease, caused by mutations in the AVPR2 gene. • In rare occasions (10 %), it is caused by mutations in the AQP2 gene. What is new: • In this study, we report 10 novel mutations associated with NDI. • We have detected a high presence (50 %) of heterozygous carriers with clinical NDI symptoms.

Los objetivos de este estudio son, realizar una descrip-ción de las características demográficas, antropométricas y de las alteraciones metabólicas de niños atendidos por obe-sidad resaltando las características aquellos casos de obesidad de inicio temprano (< 10 años) y los de inicio precoz (< 5 años), y evaluar la capacidad diagnóstica de la definición de síndrome metabólico (SM) según diferentes criterios. Métodos: Es un estudio retrospectivo, caso-control, trans-versal, multicéntrico. Han participado un total de 10 Uni-dades de Endocrinología Pediátrica de diferentes hospitales españoles con un grupo de 469 niños con obesidad de inicio temprano y otro grupo de 30 niños con obesidad de inicio precoz. El grupo control estuvo constituido por 224 niños sanos menores de 10 años. Se realizó una valoración antro-pométrica y determinación analítica de parámetros del me-tabolismo de los hidratos de carbono y lipidograma. Resultados: La presencia de alteraciones metabólicas asociadas a la obesidad en la etapa infanto-juvenil en Espa-ña es notable, de forma aislada, o englobada bajo la defini-ción de SM. La prevalencia de éste aumenta sustancialmen-te cuando se considera la resistencia periférica a la acción de la insulina como criterio diagnóstico. Se demuestra cómo en niños menores de 10 años, dichas alteraciones están presen-tes en un porcentaje reseñable, y se encuentran las primeras alteraciones metabólicas ya en niños obesos < 5 años. Conclusión: En los niños españoles existen alteracio-nes metabólicas asociadas a la obesidad en la etapa in-fanto-juvenil de forma aislada o englobada bajo la de-finición de SM, y ya están presentes a edades precoces. The objectives of this study are to provide a description of the demographic, anthropometric characteristics and metabolic abnormalities in children with early-onset (< 10 years) and of very-early-onset obesity (< 5 years). We also evaluate the diagnostic ability using the definition of meta-bolic syndrome (MS) according to different criteria. Methods: It is a retrospective, case-control, cross-sec-tional, multicenter study. A total of 10 Pediatric Endo-crinology Units in different Spanish hospitals were in-volved. A group of 469 children with early-onset obesity and another group of 30 children with very early-onset obesity were studied. The control group consisted of 224 healthy children younger than 10 years. Anthropometric and analytical determination of carbohydrates metabo-lism parameters and the lipid profile were performed. Results: The presence of metabolic alterations associa-ted with obesity in children and adolescents in Spain is remarkable, either on their own, or encompassed within the definition of MS. This prevalence increases substan-tially when considering the peripheral resistance to in-sulin action as a diagnostic criterion. It also shows how children who could not be diagnosed with MS according to the definition provided by the International Diabetes Federation (IDF) due to age below 10 years, these altera-tions are already present in a remarkable percentage. In fact, metabolic abnormalities are already present in the very-early-onset obese children (

Publicidad de alimentos; Niños; Conducta alimentaria Food advertising; Children; Eating behavior Publicitat d'aliments; Nens; Conducta alimentària Introduction Some important factors influencing and maintaining unhealthy habits are food advertising and products accessibility. In order to develop and support recommendations, an analysis of the available evidence on the impact of food advertising on the health of children and adolescents has been carried out. Methods Literature review of systematic reviews and meta-analyses published up to January 2022 for the term “food advertising” that analyzed the impact of food advertising on weight, body mass index (BMI), adiposity, dietary intake, behavior toward the advertised product, its purchase or consumption in children and adolescents. Results Twenty-one systematic reviews fulfilled the inclusion criteria, including a total of 490 primary studies, 5 of which also contained a meta-analysis. The vast majority of the primary studies evaluate intermediate effects, related to the behavior of children and adolescents in relation to advertised products and their consumption. There is great variety in terms of the type of advertising and effects studied. Most of the studies agree that there is an association between food advertising and effect analyzed, being more evident in children under 12 years of age and in obese children. Most recent systematic reviews are focused on online advertising, noticing the negative effects especially in adolescents. Conclusions Children and adolescents are a particularly vulnerable population to food advertising strategies. Despite the difficulty to demonstrate an independent effect, there is evidence of an association between food advertising and childhood and adolescents’ behavior respect to the announced products, and the increase of consumption at short-term. In Spain unhealthy product advertising are still very common in the media and in the children and adolescent's online environment. The Nutrition and Breastfeeding Committee of the Spanish Association of Pediatrics supports the need for regulation and limitation of unhealthy food advertising, covering all media and marketing strategies. Introducción Entre los factores más importantes que influyen en la aparición y el mantenimiento de malos hábitos de alimentación están la accesibilidad y publicidad de los productos alimentarios menos saludables. Con el objetivo de elaborar y fundamentar recomendaciones, se ha realizado un análisis de la evidencia disponible sobre el impacto de la publicidad de alimentos en la salud de niños y adolescentes. Métodos Se ha realizado una revisión bibliográfica de revisiones sistemáticas y metanálisis publicados hasta enero de 2022 con el término “food advertising”, incluyendo aquellas que analizaban el impacto de la publicidad de alimentos sobre el peso, índice de masa corporal (IMC), adiposidad, ingesta dietética, conducta ante el producto anunciado, su compra o su consumo en niños y adolescentes. Resultados Fueron incluidas 21 revisiones sistemáticas que incluyen un total de 490 artículos, 5 de las cuales contienen además un meta-análisis. La gran mayoría de los estudios primarios evalúan efectos intermedios, relacionados con el comportamiento de niños y adolescentes ante los productos anunciados y su consumo. Existe gran variedad en cuanto al tipo de publicidad y efectos estudiados. La mayoría de trabajos muestra una asociación entre el tipo de publicidad y el efecto concreto analizado, siendo más evidente en menores de 12 años y en niños obesos. Las revisiones más recientes se centran en la publicidad online indicando sus efectos nocivos especialmente en adolescentes. Conclusiones Los niños y adolescentes constituyen una población especialmente vulnerable. A pesar de la dificultad para demostrar un efecto independiente, hay evidencia de asociación entre la publicidad y los comportamientos en la infancia y adolescencia respecto a los productos anunciados y el aumento de su consumo a corto plazo. En España, los anuncios de productos no saludables siguen muy presentes en los medios y en el entorno online de los menores. El Comité de Nutrición y Lactancia Materna de la Asociación Española de Pediatría suscribe la necesidad de una regulación y limitación de la publicidad de alimentos no saludables que abarque todos los medios y todas las estrategias de marketing.