Uso de la Hibridación Genómica Comparativa-Array (HGC-a) en pacientes con retraso global del desarrollo y fenotipo particular. Revisión sistemática de la literatura

Introducción: la hibridación genómica comparativa en una técnica que permite la exploración de las anormalidades cromosómicas. Su utilidad en la aproximación de los pacientes con retraso global del desarrollo o fenotipo dismórfico, sin embargo, no ha sido explorada mediante una revisión sistemática de la literatura. Metodología: realizó una revisión sistemática de la literatura. Se incluyeron estudios controlados, cuasi-experimentales, de cohortes, de casos y controles, transversales y descriptivos publicados en idiomas inglés y español entre los años 2000 y 2013. Se realizó un análisis de la evidencia con un enfoque cualitativo y cuantitativo. Se realizó un análisis del riesgo de sesgo de los estudios incluidos. Resultados: se incluyeron 4 estudios que cumplieron con los criterios de inclusión. La prevalencia de alteraciones cromosómicas en los niños con retraso global del desarrollo fue de entre el 6 y 13%. El uso de la técnica permitió identificar alteraciones que no fueron detectadas mediante el cariotipo. Conclusiones: la hibridación genómica comparativa es una técnica útil en la aproximación diagnóstica de los niños con retraso global del desarrollo y del fenotipo dismórfico y permite una mayor detección de alteraciones comparada con el cariotipo.

Face and content validity of smoking-related and matched control pictures

Smoking-related pictures and matched controls are useful tools in experimental tasks of attentional bias. Noteworthy the procedures used to produce and validate these pairs of pictures are poorly reported. This study aimed to describe the production and evidence of validity of a set of smoking-related pictures and their matched controls. Two studies were conducted to assess validity. An online internet-based survey was used to assess face validity of 12 pictures related to smoking behavior and 12 matched controls. All pictures were colored and were 95mm length x 130mm width. Participants were asked if the pictures were related or not to the smoking behavior and also rated how much each picture was related to smoking behavior. The second study investigated attentional bias in smokers (n = 47) and non-smokers (n = 50), and examined how they assessed all pictures in terms of pleasantness and the 12 smoking-related pictures in terms of relevance to their own smoking behavior. Craving was assessed before and after the experiment. Results indicate that this set of pictures are valid since smoking-related pictures were considered more related to smoking behavior compared to their matched controls. Moreover, smokers showed greater attentional bias for smoking-related pictures than non-smokers. Craving and relevance of the smoking-related pictures were higher in smokers than in non-smokers. Smokers considered smoking-related pictures them less unpleasant than non-smokers. These findings provide evidence of face and content validity of this set of pictures, which will be available to researchers, contributing to maximize the standardization of future investigations.