The importance of socioeconomic factors in obesity studies. Authors reply

Este trabajo ha sido desarrollado con financiación procedente del CIBER Fisiopatología de la Obesidad y Nutrición (CIBERobn) y del Instituto de Salud Carlos III, FIS (FIS. PI09/91060; FIS 10/00747; FIS 13/01295 y FIS 16/00485)

Caracterización antropométrica y de las alteraciones metabólicas de la obesidad infanto-juvenil en relación con la restricción del crecimiento intrauterino del paciente y su alimentación infantil (lactancia materna y asistencia a comedor escolar)

OBJETIVOS: Estudiar la influencia de nacer con antropometría neonatal pequeña para la edad gestacional (PEG) y la influencia de la lactancia materna y asistencia al comedor escolar, sobre las características antropométricas y las comorbilidades metabólicas observadas en los niños y adolescentes obesos. PACIENTES y MÉTODOS: Estudio observacional retrospectivo, con evaluación de variables perinatales, antropométricas, bioquímicas, hormonales y nutricionales, en 1112 pacientes atendidos en el Servicio de Endocrinología del Hospital Infantil Universitario Niño Jesús de Madrid, con un IMC Z-score > +2 SDS para su edad y sexo en el periodo 2009-2013. RESULTADOS: El 6,3% fueron pacientes obesos nacidos PEG. En éstos, se observó una afectación más grave del metabolismo lipídico e hidrocarbonado que en aquellos pacientes que habían nacido con una antropometría adecuada a su edad gestacional (AEG) y sexo. El 78,7% de los pacientes recibieron lactancia materna. Aquellos que no habían recibido lactancia materna presentaban mayor IMC-SDS y niveles de VLDL, Triglicéridos, TSH y AUC de insulina. El 46,8% asistían al comedor escolar, y presentaban menores niveles de ácido úrico, VLDL, triglicéridos, índice triglicéridos/colesterol HDL, insulina basal, índice HOMA y mayores de HDL en comparación con los que no lo hacían. CONCLUSIONES: El antecedente de antropometría pequeña para la edad gestacional determina un mayor número e intensidad de las alteraciones metabólicas asociadas a la obesidad infanto-juvenil, al tiempo que la lactancia materna y la asistencia al comedor escolar durante la infancia parecen influenciarlas positivament

Implication in Paediatrics of the First International Consensus Statement for the Diagnosis and management of pseudohypoparathyroidism and related disorders

Desde que en 1942 Albright y colaboradores describieran por primera vez el pseudohipoparatiroidismo como la existencia de hipocalcemia e hiperfosfatemia asociadas a resistencia tisular a la hormona paratiroidea (PTH) en presencia de una función renal normal, se han realizado grandes avances en la caracterización clínica y genética de los pacientes afectos de esta enfermedad. De hecho, no solo se han identificado las alteraciones moleculares responsables, sino que se ha podido establecer que variantes en otros genes de la misma vía de señalización, PTH/PTHrP a través de la proteína Gsα, son la causa de enfermedades que comparten determinadas manifestaciones clínicas con el pseudohipoparatiroidismo. En el ámbito pediátrico, los primeros síntomas o signos que deben hacernos pensar en alteraciones en esta vía son la presencia de osificaciones subcutáneas, la braquidactilia y/o la obesidad de inicio precoz, seguidas en el tiempo por la posible aparición de resistencia a la PTH. Esta sospecha clínica deberá ser confirmada mediante un diagnóstico molecular que permita el correcto seguimiento clínico coordinado y multidisciplinar. Entre los aspectos a tener en cuenta en la atención de estos pacientes se incluye la evaluación al diagnóstico y seguimiento de la eventual presencia de resistencia a la PTH y a la hormona tirotropa (TSH), deficiencia de hormona de crecimiento (GH), hipogonadismo, alteraciones esqueléticas, alteraciones de la salud dental, obesidad, resistencia a la acción de la insulina, intolerancia a la glucosa o diabetes mellitus tipo 2 e hipertensión, así como osificaciones ectópicas (subcutáneas o con afectación de tejidos más profundos) y alteración del desarrollo neurocognitivoSince Albright and co-workers described pseudohypoparathyroidism in 1942 as the combined presence of hypocalcaemia and hyperphosphataemia associated with the existence of tissue resistance to parathyroid hormone (PTH) action upon normal renal function, great advances have been made in the clinical and genetic profile of patients affected by this condition. Furthermore, not only have genetic bases of pseudohypoparathyroidism been unravelled, but also variants in other genes involved in the PTH/PTHrP signalling pathway through Gsα, have been identified as the cause of diseases that share clinical features with pseudohypoparathyroidism. In the paediatric setting, the first symptoms suggesting the impairment of this signalling pathway are the presence of subcutaneous ossifications, brachydactyly and/or early onset obesity, followed by the possible development of PTH resistance. This clinical suspicion should be confirmed by an accurate molecular diagnosis to allow for coordinated multidisciplinary clinical management. Among the features of this group of disorders, physicians should pay attention to evaluation of PTH and/or thyrotropin (TSH) resistance at diagnosis and throughout follow-up, as well as growth hormone deficiency, hypogonadism, skeletal deformities, dental impairment, obesity, insulin resistance, impaired glucose tolerance or type 2 diabetes mellitus and hypertension, as well as ectopic ossifications (either subcutaneous or affecting deeper tissues) and impairment of neurocognitive developmen

A proteomic approach to obesity and type 2 diabetes

The incidence of obesity and type diabetes 2 has increased dramatically resulting in an increased interest in its biomedical relevance. However, the mechanisms that trigger the development of diabetes type 2 in obese patients remain largely unknown. Scientific, clinical and pharmaceutical communities are dedicating vast resources to unravel this issue by applying different omics tools. During the last decade, the advances in proteomic approaches and the Human Proteome Organization have opened and are opening a new door that may be helpful in the identification of patients at risk and to improve current therapies. Here, we briefly review some of the advances in our understanding of type 2 diabetes that have occurred through the application of proteomics. We also review, in detail, the current improvements in proteomic methodologies and new strategies that could be employed to further advance our understanding of this pathology. By applying these new proteomic advances, novel therapeutic and/or diagnostic protein targets will be discovered in the obesity/Type 2 diabetes areaThis work is funded by Ministerio de Ciencia e Innovación (BFU2011–27492), Fondos de Investigación Sanitaria (PI1302195), Centro de Investigación Biomédica en Red Fisiopatología de Obesidad y Nutrición (CIBERobn), Instituto de Salud Carlos III and Fundación de Endocrinología y Nutrición. Dr. Elena López Villar is supported by ISCIII Spanish Health System (SNS BOE 2012) and she is Delegate of HUPO (Human Proteome Organization) supporting clinical proteomic studies at Hospital Niño Jesús of Madrid, Spain, to improve diagnosis and therapies via researc

Growth and disease burden in children with hypophosphatasia

Hypophosphatasia, an inborn error of metabolism characterized by impaired bone mineralization, can affect growth. This study evaluated relationships between anthropometric parameters (height, weight, and body mass index) and clinical manifestations of hypophosphatasia in children. Design: Data from children (aged < third percentile) and those with normal stature. Methods: Anthropometric parameters were evaluated by age group (< third percentile) and those with normal stature. Results: This analysis included 215 children (54.4% girls). Short stature presented in 16.1% of children aged<2 years and 20.4% of those aged≥2 years at assessment. Among those with available data (n = 62), height was below the target height (mean: −0.66 standard deviations). Substantial worsening of growth (mean delta height z score: −1.45; delta weight z score: −0.68) occurred before 2 years of age, while in those aged≥2 years, anthropometric trajectories were maintained (delta height z score: 0.08; delta weight z score: 0.13). Broad-ranging hypophosphatasia manifestations (beyond dental) were observed in most children. Conclusions: Short stature was not a consistent characteristic of children with hypophosphatasia, but growth impairment was observed in those aged<2 years, indicating that hypophosphatasia might affect growth plate activity during infancy. In addition, a broad range of clinical manifestations occurred in those above and below the third percentile for height, suggesting that height alone may not accurately reflect hypophosphatasia disease burden and that weight is less affected than longitudinal growt

RhIGF-1 treatment increases bone mineral density and trabecular bone structure in children with PAPP-A2 deficiency

KARGER: "This is the peer-reviewed but unedited manuscript version of the following article: Hormone Research in Paediatrics 89.3 (2018): 200-204 DOI: 10.1159/000486336. The final, published version is available at http://www.karger.com/. http://doi.org/10.1159/000486336]."Aim: Our objective was to determine changes in bone mineral density (BMD), trabecular bone score (TBS), and body composition after 2 years of therapy with recombinant human insulin-like growth factor-1 (rhIGF-1) in 2 prepubertal children with a complete lack of circulating PAPP-A2 due to a homozygous mutation in PAPP-A2 (p.D643fs25∗) resulting in a premature stop codon. Methods: Body composition, BMD, and bone structure were determined by dual-energy X-ray absorptiometry at baseline and after 1 and 2 years of rhIGF-1 treatment. Results: Height increased from 132 to 145.5 cm (patient 1) and from 111.5 to 124.5 cm (patient 2). Bone mineral content increased from 933.40 to 1,057.97 and 1,152.77 g in patient 1, and from 696.12 to 773.26 and 911.51 g in patient 2, after 1 and 2 years, respectively. Whole-body BMD also increased after 2 years of rhIGF-1 from baseline 0.788 to 0.869 g/cm2in patient 1 and from 0.763 to 0.829 g/cm2in patient 2. After 2 years of treatment, both children had an improvement in TBS. During therapy, a slight increase in body fat mass was seen, with a concomitant increase in lean mass. No adverse effects were reported. Conclusion: Two years of rhIGF-1 improved growth, with a tendency to improve bone mass and bone microstructure and to modulate body composition.The authors are funded by Fondos de Investigación Sanitaria and FEDER (Grants PI1302195 and PI1600485 to J.A.), Ministerio de Ciencia e Innovación (BFU2014-51836-C2-2-R to J.A.C.), Centro de Investigación Biomédica en Red Fisiopatología de Obesidad y Nutrición (CIBEROBN), Instituto de Salud Carlos III (J.A.), and Fundación Endocrinología y Nutrició

Clinical practice guideline on the prevention and treatment of infant-child obesity. Part I: Definition and prevention

[EN] The incidence of childhood overweight and obesity is progressively increasing, both in high income and low income countries. Its prevention requires the implication of governments and institutions to carry out some strategies to stop this development. So far, multidisciplinar interventions (i.e. those that involve physical exercise, a healthy diet and the reduction of sedentary behaviors) with the sup-port of the family and carried out at different settings (usually in schools, with the support of families and the community) have shown to be the most effective for the prevention of this disease. This sort of interventions is not always able to prevent obesity, but they help to improve diet and to increase physical activity, which is a first step to tackle this important public health issue.[ES] La incidencia de sobrepeso y obesidad en la infancia y la adolescencia está aumentando de forma progresiva, tanto en los países industrializados como en los países en vías de desarrollo. Su prevención requiere la implicación de gobiernos e instituciones para poder llevar a cabo estrategias que permitan frenar su desarrollo. Hasta la fecha, las intervenciones preventivas que se han mostrado más eficaces son las multidisciplinares (dirigidas a la promoción de la actividad física, al fomento de una alimentación saludable y a la disminución de hábitos sedentarios), con la implicación de la familia y orientadas a diferentes ámbitos (generalmente escolar, con apoyo en la comunidad y la familia). A menudo, estas intervenciones no consiguen prevenir la obesidad, pero logran mejoras en la alimentación y una mayor realización de ejercicio físico, lo cual supone un primer paso esencial para abordar esta enfermedad que supone un grave problema de salud pública.Peer Reviewe