3 research outputs found
Genetic landscape of 6089 inherited retinal dystrophies affected cases in Spain and their therapeutic and extended epidemiological implications
Inherited retinal diseases (IRDs), defined by dysfunction or progressive loss of photoreceptors, are disorders characterized by elevated heterogeneity, both at the clinical and genetic levels. Our main goal was to address the genetic landscape of IRD in the largest cohort of Spanish patients reported to date. A retrospective hospital-based cross-sectional study was carried out on 6089 IRD affected individuals (from 4403 unrelated families), referred for genetic testing from all the Spanish autonomous communities. Clinical, demographic and familiar data were collected from each patient, including family pedigree, age of appearance of visual symptoms, presence of any systemic findings and geographical origin. Genetic studies were performed to the 3951 families with available DNA using different molecular techniques. Overall, 53.2% (2100/3951) of the studied families were genetically characterized, and 1549 different likely causative variants in 142 genes were identified. The most common phenotype encountered is retinitis pigmentosa (RP) (55.6% of families, 2447/4403). The most recurrently mutated genes were PRPH2, ABCA4 and RS1 in autosomal dominant (AD), autosomal recessive (AR) and X-linked (XL) NON-RP cases, respectively; RHO, USH2A and RPGR in AD, AR and XL for non-syndromic RP; and USH2A and MYO7A in syndromic IRD. Pathogenic variants c.3386G > T (p.Arg1129Leu) in ABCA4 and c.2276G > T (p.Cys759Phe) in USH2A were the most frequent variants identified. Our study provides the general landscape for IRD in Spain, reporting the largest cohort ever presented. Our results have important implications for genetic diagnosis, counselling and new therapeutic strategies to both the Spanish population and other related populations.This work was supported by the Instituto de Salud Carlos III (ISCIII) of the Spanish Ministry of Health (FIS; PI16/00425 and PI19/00321), Centro de Investigación Biomédica en Red Enfermedades Raras (CIBERER, 06/07/0036), IIS-FJD BioBank (PT13/0010/0012), Comunidad de Madrid (CAM, RAREGenomics Project, B2017/BMD-3721), European Regional Development Fund (FEDER), the Organización Nacional de Ciegos Españoles (ONCE), Fundación Ramón Areces, Fundación Conchita Rábago and the University Chair UAM-IIS-FJD of Genomic Medicine. Irene Perea-Romero is supported by a PhD fellowship from the predoctoral Program from ISCIII (FI17/00192). Ionut F. Iancu is supported by a grant from the Comunidad de Madrid (CAM, PEJ-2017-AI/BMD7256). Marta del Pozo-Valero is supported by a PhD grant from the Fundación Conchita Rábago. Berta Almoguera is supported by a Juan Rodes program from ISCIII (JR17/00020). Pablo Minguez is supported by a Miguel Servet program from ISCIII (CP16/00116). Marta Corton is supported by a Miguel Servet program from ISCIII (CPII17/00006). The funders played no role in study design, data collection, data analysis, manuscript preparation and/or publication decisions
I Premio Nacional de Educación para el Desarrollo "Vicente Ferrer" 2009 : buenas prácticas
La Agencia Española de Cooperación Internacional para el Desarrollo (AECID) junto con el Ministerio de Educación convoca anualmente los premios de educación para el desarrollo que están dirigidos a todos los centros docentes españoles sostenidos con fondos públicos que impartan educación infantil, educación primaria, educación secundaria obligatoria, bachillerato y formación profesional. Se recogen las buenas prácticas de los docentes premiados en esta segunda edición. Docentes que en el ejercicio de su función educadora han convertido el proceso educativo en un proceso dinámico e interactivo que permite al alumnado desarrollar un conocimiento crítico de nuestro mundo. Profesores y profesoras que han estimulado la participación del alumnado en la construcción de estructuras sociales más justas y solidarias, y han promovido actuaciones basadas en el principio de la corresponsabilidad de todos los actores implicados.MECDES
Tratamientos Psicológicos Empíricamente Apoyados Para la Infancia y Adolescencia: : Estado de la Cuestión
Background: The empirical
evidence accumulated on the effi cacy, effectiveness, and effi ciency of
psychotherapeutic treatments in children and adolescents calls for an
update. The main goal of this paper objective was to carry out a selective
review of empirically supported psychological treatments for a variety
of common psychological disorders and problems in childhood and
adolescence. Method: A review was carried out of the psychological
treatments for different psychological disorders and problems in socialemotional or behavioral adjustment in the child-adolescent population
according to the Spanish National Health System (Clinical Practice
Guidelines) levels of evidence and degrees of recommendation. Results:
The fi ndings suggest that psychological treatments have empirical
support for addressing a wide range of psychological problems in these
developmental stages. The degree of empirical support ranges from low
to high depending on the phenomenon analyzed. The review suggests
unequal progress in the different fi elds of intervention. Conclusions:
From this update, psychologists will be able to make informed decisions
when implementing those empirically supported treatments to address the
problems that occur in childhood and adolescence.Antecedentes: la evidencia empírica acumulada en los últimos años sobre
la efi cacia, efectividad y efi ciencia de los tratamientos psicológicos en la
infancia y adolescencia reclama una actualización. El principal objetivo
de este artículo es el de llevar a cabo una revisión de los tratamientos
psicológicos empíricamente apoyados para una diversidad de problemas
psicológicos habituales en la infancia y la adolescencia. Método:
se revisan los tratamientos psicológicos para diferentes trastornos
psicológicos y problemas en el ajuste socioemocional o conductual en
población infanto-juvenil en función de los niveles de evidencia y grados
de recomendación del Sistema Nacional de Salud de España (Guías de
Práctica Clínica). Resultados: los hallazgos sugieren que los tratamientos
psicológicos específi camente dirigidos a niños, niñas y adolescentes
disponen de apoyo empírico para el abordaje de un amplio elenco de
problemas psicológicos. Este grado de apoyo empírico oscila de bajo a
alto en función del problema analizado. La revisión muestra un avance
desigual en los diferentes campos de intervención. Conclusiones: a partir
de esta actualización, los profesionales de la psicología podrán tomar
decisiones informadas a la hora de implementar aquellas intervenciones
psicológicas con apoyo empírico para el abordaje de los problemas en la
infancia y la adolescenci