RESUMEN
BACKGROUND: Prader-Willi syndrome (PWS), a genetically determined disorder, the most frequent cause of early onset obesity, is associated with physical and cognitive dysfunctions and behavioural disturbances; these disturbances are frequently treated with psychotropic medication. The aim of this cross-sectional study was to describe the characteristics of the first large national sample of persons with PWS in Spain and analyse the relationships of those characteristics with key demographic and clinical factors, particularly with obesity and the regular use of psychotropic medication. METHODS: Participants were recruited among all members of the Spanish Prader-Willi Association who agreed to take part in the study and fulfilled its inclusion criteria. Family and patient demographic features, family size and birth order, intelligence quotient (IQ), anthropometric measures, lifestyle habits, behavioural disturbances (with the Aberrant Behavior Checklist) and clinical data, as well as use of psychotropic drugs and their side effects (with the UKU scale), were collected in genetically confirmed cases of PWS. Bivariate and logistic regression analyses were used for determining the associations of demographic and clinical factors with both obesity and the regular use of psychotropic medication. RESULTS: The cohort included 177 participants (aged 6-48 years), that is, 90 (50.8%) males and 87 (49.2%) females. Behavioural disturbances were present in a range of 75% to 93% of participants; psychotropic medication was prescribed to 81 (45.8%) of them. Number of siblings showed a direct correlation with IQ, especially among males, and inappropriate speech was more intense in only-child females. Obesity was, in parallel, strongly associated with ascending age and with not being currently under growth hormone (GH) treatment. Participants taking any psychotropic medication were characterised by more frequent age ≥30 years, high level of hyperactivity and a psychiatric diagnosis. CONCLUSIONS: Characterisation of persons with PWS in Spain confirms their physical and behavioural phenotype and supports the long-term application of GH therapy and the rational use of psychotropic medication.
Asunto(s)
Síndrome de Prader-Willi , Masculino , Femenino , Humanos , Síndrome de Prader-Willi/complicaciones , España , Estudios Transversales , Obesidad/complicaciones , Psicotrópicos/uso terapéuticoRESUMEN
Ante el nuevo reto de la implantación del Espacio Europeo de Educación Superior los métodos de estudio deben adaptarse y servirse de herramientas innovadoras. Una buena estrategia para comprender una ciencia, su metodología y objetivos, es conocer su historia. Esta estrategia se hace especialmente útil en el caso de la Microbiología por ser una disciplina joven, que se ha cimentado precisamente en la metodología que sus creadores han ido elaborando.El objetivo de este trabajo ha sido crear una herramienta de utilidad en el aprendizaje de la Microbiología. Para ello hemos tomado como punto de apoyo su historia, es decir, explicar la Microbiología mediante la descripción de los descubrimientos y hechos que contribuyeron al desarrollo de esta ciencia. Para ello se ha creado una página web con dos aplicaciones independientes que operan sobre una base de datos común.1. La primera de carácter público para los alumnos aunque con posibilidad de acceso restringido; se pueden consultar los contenidos sin posibilidad de alterarlos.2. La otra aplicación es privada, los profesores pueden administrar los contenidos, y hacer uso de diferentes herramientas que facilitan la gestión de los mismos(AU)
In the light of the challenge presented by the European Higher Education Area, study strategies will have to adapt themselves and take advantage of innovative tools provided by modern information technology. One good way of understanding a science, its methodology and objectives is by taking an interest in its history. This approach is especially useful with regard to Microbiology, which is a fairly young discipline founded upon and made cohesive by the methods devised and constantly elaborated on by its designers.The aim of this work has been to offer guidance towards learning Microbiology. To this end we have chosen as our starting point, and indeed one of the keystones of our approach, the history of the subject itself; that is to say, an explanation of Microbiology via a description of the discoveries and milestones that have contributed to the development of this science. Thus we have set up a web page with two separate applications operating on one common database.1. The first is openly available to the students, although allowing the possibility of restricted access. Its contents may be consulted but not altered.2. The second is accessible only by lecturers, who may administer its contents and resort to different tools to facilitate the management of the information available on the site(AU)