Search

Introduction: despite the fact that 40 % of children in Spain, ages 6 to 9, are overweight or obese, and 2/3 of them are at risk of developing cardiovascular disease, there is a lack of protocolized efficient interventions to fight this important health problem. The PESCA project aims to reduce the prevalence of overweight and obesity with a transversal model focused on a school intervention, but also involving families and primary care doctors, to increase the quantity and quality of physical activity (PA) and improve eating habits. Methods: a 5-step protocol was carried out at schools: 1) family and personal background questionnaire for children; 2) body mass index (BMI); 3) bioimpedance corporal composition (BIA); 4) hand grip dynamometry (DIN); and 5) medical physical examination. As a result, each subject received a medical report about his/her diagnosis of body weight and composition and cardiovascular health, and also recommendations to improve eating habits and increase physical activity. Results: in the first two years of PESCA, the weekly time of physical activity has significantly increased among participants (up to 20.12 %; p0.001). In addition, the prevalence of overweight/obesity has significantly declined in both girls and children under 6 years of age (35.78 % and 58.92 %; p0.05, respectively). Conclusion: the school, pediatrician, and family working together on a transversal intervention has shown effectiveness in reducing the lack of diagnosis and prevalence of overweight and obesity in children.Introducción: el 40 % de los niños entre los 6 y 9 años en España presentan exceso de peso infantil (EPI). Más de 2/3 padecerán enfermedad cardiovascular en la vida adulta. Aun así, no existe un modelo protocolarizado de acción con el que combatir, de forma eficaz, el problema. El objetivo del programa PESCA es la reducción de la prevalencia del EPI a través de un modelo transversal de actuación que, tomando como centro la red escolar y su profesorado, implique a las familias y la red de atención primaria de salud para actuar mediante la mejora cualitativa y cuantitativa de la actividad física (AF) y los hábitos de alimentación. Métodos: el protocolo incluye 5 pasos que se realizan en el centro escolar: 1) cuestionario de antecedentes personales y familiares de cada alumno; 2) índice de masa corporal (IMC); 3) bioimpedancia de composición corporal (BIA); 4) dinamometría de mano (DIN), y 5) exploración física facultativa. Como resultado, cada sujeto participante recibe un informe facultativo con su diagnostico individualizado de peso corporal y salud cardiovascular, y recomendaciones de mejora en cuanto a AF y hábitos de alimentación. Resultados: en los dos primeros años del programa se ha objetivado un aumento del tiempo semanal dedicado a la AF entre los sujetos participantes (hasta un 20,12 %; p0,001) y un descenso significativo en la prevalencia del EPI en las niñas y los menores de 6 años (35,78 % y 58,92 %; p0,05, respectivamente). Conclusión: la actuación transversal de colegio, pediatra y familia permite disminuir tanto el déficit diagnóstico de la obesidad y el sobrepeso infantiles como su prevalencia.

Noonan syndrome (NS) is a relatively common genetic condition characterised by short stature, congenital heart defects, and distinctive facial features. NS and other clinically overlapping conditions such as NS with multiple lentigines (formerly called LEOPARD syndrome), cardiofaciocutaneous syndrome, or Costello syndrome, are caused by mutations in genes encoding proteins of the RAS-MAPKinases pathway. Because of this shared mechanism, these conditions have been collectively termed «RASopathies». Despite the recent advances in molecular genetics, nearly 20% of patients still lack a genetic cause, and diagnosis is still made mainly on clinical grounds. NS is a clinically and genetically heterogeneous condition, with variable expressivity and a changing phenotype with age, and affects multiple organs and systems. Therefore, it is essential that physicians involved in the care of these patients are familiarised with their manifestations and the management recommendations, including management of growth and development. Data on growth hormone treatment efficacy are sparse, and show a modest response in height gains, similar to that observed in Turner syndrome. The role of RAS/MAPK hyper-activation in the pathophysiology of this group of disorders offers a unique opportunity for the development of targeted approaches.