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OBJECTIVE: The melanocortin 4 receptor gene (MC4R) is involved in body weight regulation. While many studies associated MC4R mutations with childhood obesity, information on MC4R mutations in Spanish children and adolescents is lacking. Our objective was to screen a population of children and adolescents from the north of Spain (Navarra) for MC4R mutations and to study the phenotypes of carriers and their families. In addition, functional assays were performed for a novel MC4R mutation. METHODS: The study was composed of 451 Spanish children and adolescents (49% boys), aged 5-18 year. According to the International Obesity Task Force (IOTF) criteria, the groups included 160 obese, 132 overweight and 159 normal-weight control subjects. RESULTS: One novel (Thr162Arg) and three known nonsynonymous mutations in the MC4R gene (Ser30Phe, Thr150Ile, Ala244Glu) were detected heterozygously. The MC4R mutations were found in three male (one obese and two overweight) and two female subjects (one obese and one overweight). The novel mutation did not appear to lead to an impaired receptor function. An unequivocal relationship of MC4R mutations with obesity in pedigrees together with an impaired function of the encoded receptor could not be established for any of the mutations. CONCLUSIONS: The presence of heterozygous MC4R mutations in obese and overweight subjects indicates that these mutations may be a susceptibility factor for obesity development, but lifestyle factors, such as exercise or sedentary activities, may modify their effect.

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AIMS: Multiple genes are likely to be involved in obesity and these genes may interact with environmental factors to influence obesity risk. Our aim was to explore the synergistic contribution of the two polymorphisms: Pro12Ala of the PPAR gamma 2 gene and Trp64Arg of the ADR beta 3 gene to obesity risk in a Spanish children and adolescent population. METHODS: We designed a sex- and age-matched case-control study. Participants were 185 obese and 185 control children (aged 5-18 y) from the Navarra region, recruited through Departments of Pediatrics (Hospital Virgen del Camino, Navarra University Clinic and several Primary Health Centers). The obesity criterion (case definition) was BMI above the 97th percentile according to Spanish BMI reference data for age and gender. Anthropometric parameters were measured by standard protocols. The genotype was assessed by PCR-RFLP after digestion with BstUI for PPAR gamma 2 mutation and BstNI for ADR beta 3 variants. Face-to-face interviews were conducted to assess the physical activity. Using a validated physical activity questionnaire, we computed an activity metabolic equivalent index (METs h/week), which represents the physical exercise during the week for each participant. Statistical analysis was performed by conditional logistic regression, taking into account the matching between cases and controls. RESULTS: Carriers of the polymorphism Pro12Ala of the PPAR gamma 2 gene had a significantly higher obesity risk than noncarriers (odds ratio (OR)=2.18, 95% CI=1.09-4.36) when we adjusted for sex, age and physical activity. Moreover, the risk of obesity was higher (OR=2.59, 95% CI=1.17-5.34) when family history of obesity was also taken into account in the model. The OR for obesity linked to both polymorphisms (PPAR gamma 2 and ADR beta 3) was 5.30 (95% CI=1.08-25.97) when we adjusted for sex, age and physical activity. After adjustment for family history of obesity, the OR for carriers of both polymorphisms was 19.5 (95% CI=2.43-146.8). CONCLUSIONS: A synergistic effect between polymorphism Pro12Ala of the PPAR gamma 2 gene and Trp64Arg of the ADR beta 3 gene for obesity risk was found in a case-control study including children and adolescents.

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En la práctica pediátrica la valoración de la audición constituye una actividad importante. Permite confirmar con diferentes técnicas si el niño oye bien o no, hecho que se puede sospechar a través de otras fuentes (familia, escuela).Es por ello fundamental que se sepa valorar adecuadamente porque incidirá de manera importante en el desarrollo del niño. Así, una hipoacusia puede ser causa de una inadaptación o fracaso escolar según la edad, o de alteraciones del lenguaje. Se describen los diferentes tipos de hipoacusia y sus técnicas para el diagnóstico y correspondiente tratamiento. Se hace una reflexión sobre el problema de la otitis media serosa en Atención Primaria y su derivación a la unidad de ORL infantil (AU)

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La sociedad está sufriendo muchos cambios en las últimas décadas y estos han incidido fuertemente en la morbilidad y la mortalidad infantil. Enfermedades prácticamente desaparecidas por el impacto de las vacunaciones y la mejora del nivel de vida han dejado paso a otras derivadas de los cambios de la alimentación y estilo de vida; los accidentes, por otra parte, han pasado a ser la primera causa de morbilidad y mortalidad una vez pasado el primer año de vida. Las estrategias deben ir encaminadas a evitar las causas de esta nueva manera de enfermar. Se presenta un material lúdico, "La oca saludable", que promueve unos hábitos sanos de vida mediante el juego de la oca. Con el fin de que el niño vaya interiorizando, mediante el juego, unos hábitos seguros, se han sustituido determinadas casillas de éste por unas viñetas positivas, en las que el niño realiza actividades saludables, siendo premiado por ello, y otras en las que realiza actividades de riesgo, siendo penalizado. Las áreas tratadas son, hábitos (nutrición, sueño, estudio, juegos, etc.), accidentes caseros, seguridad vial (peatón, ciclista y viajero de automóvil), y piscinas. El juego comienza con un niño de 3-4 años y la meta se alcanza como un adolescente sano. Dado que la variación de personalidades es enorme, creemos que el complemento a las medidas legislativas, educativas y campañas generales en los medios de comunicación debe ser el medio familiar, el que más conoce al niño y donde éste aprende sus más profundas actitudes. Este juego puede ser un apoyo para los padres en esta difícil tarea (AU)

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In recent decades society has been undergoing many changes and these have had a strong incidence on infant morbidity and mortality. Diseases that have practically vanished due to the impact of vaccinations and the improvement of the standard of living have given way to others derived from the changes in eating habits and life style; accidents, on the other hand, have come to be the first cause of morbidity and mortality after the first year of life has been passed. Strategies must be directed towards avoiding the causes of this new way of falling ill. We present a Spanish version of a game similar to "snakes and ladders" called "the healthy goose", which encourages healthy living habits. In order that the child should internalize safe habits by means of the game, certain squares in the game have been replaced by positive drawings, in which the child carries out healthy activities, receiving prizes for these, and others in which risky activities are performed, which are penalized. The areas dealt with are: habits (nutrition, sleep, study, games, etc.), Accidents at home, road safety (pedestrian, cyclist and automobile traveler), and swimming pools. The game starts with a child of 3-4 years and the goal is reached as a healthy adolescent. Given that the variation in personalities is enormous, we believe the family milieu should be the complement to legislative and educational measures and general campaigns in the means of communication, since it is what the child knows best and where he learns his deepest attitudes. This game could be a help to parents in this difficult task.

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The evaluation of hearing is an important activity in paediatric practice, making it possible to confirm by different techniques whether the child hears well or not, a fact that might be suggested from other sources (the family, school). It is thus fundamental that this should be suitably evaluated since it will have an important incidence on the development of the child. Thus hypoacusis can be the cause of lack of adaptation or school failure, depending on age, or of language alterations. Different types of hypoacusis are described as well as techniques for its diagnosis and corresponding treatment. A reflection is offered on the problem of otitis media serous in primary care and its referral to the child ENT unit.