Relación entre actividad física y rendimiento académico

Introducción: Cada vez son más los jóvenes que optan por un modo de vida sedentario ajeno de cualquier tipo de actividad física. Ante este asunto, el objetivo de las escuelas y de las políticas en materia de educación de los diferentes gobiernos es favorecer la actividad física entre su alumnado. Los beneficios de la actividad física han sido contrastados y algunos de ellos apuntan a que podría influir positivamente sobre el rendimiento académico del alumnado. Objetivo: El objetivo principal de esta revisión es comprobar si los hallazgos de los estudios apoyan la idea de que la actividad física contribuye positivamente en el rendimiento académico en la etapa escolar. Método: Búsqueda exhaustiva de artículos en las bases de datos Web of Sciencie, Scopus o PsycINFO tanto en inglés como en español sobre la relación que existe entre actividad física (AF) y rendimiento académico (RA). Resultados: 7 de los 12 estudios confirman la beneficiosa influencia que tiene la actividad física sobre el rendimiento académico, no obstante, estos beneficios incluyen la intervención de otros factores añadidos como la estructura sociodemográfica, el contexto familiar o las funciones cognitivas entre otros. Conclusiones: Aunque la tendencia apunta hacia la verificación de la relación, sería relevante realizar un estudio de carácter internacional con metodologías paralelas para replicar o refutar los resultados encontrados hasta el momento.Introduction: More and more young people are opting for a sedentary way of life exclusive to any type of physical activity. Faced with this matter, the objective of the schools and the education policies of the different governments is to promote physical activity among their students. The benefits of physical activity have been contrasted and some of them suggest that it could positively influence student academic performance. Objective: The main objective of this review is to check whether the study findings support the idea that physical activity contributes positively to academic performance at the school stage. Method: Exhaustive search for scientific articles in Web of Science Scopus, PsycINFO in both English and Spanish on the relationship between physical activity (AF) and academic performance (RA). Results: 7 of the 12 studies confirm the beneficial influence of physical activity on academic performance, however, these benefits include the intervention of other added factors such as sociodemographic structure, family context or cognitive functions among others. Conclusions: Although the trend points towards verification of the relationship, it would be relevant to carry out an international study with parallel methodologies to replicate or refute the results found so far

Genotype–phenotype correlation in patients with Usher syndrome and pathogenic variants in MYO7A: implications for future clinical trials

Purpose: We aimed to establish correlations between the clinical features of a cohort of Usher syndrome (USH) patients with pathogenic variants in MYO7A, type of pathogenic variant, and location on the protein domain. Methods: Sixty-two USH patients from 46 families with biallelic variants in MYO7A were examined for visual and audiological features. Participants were evaluated based on self-reported ophthalmological history and ophthalmological investigations (computerized visual field testing, best-corrected visual acuity, and ophthalmoscopic and electrophysiological examination). Optical coherence tomography and fundus autofluorescence imaging were performed when possible. Auditory and vestibular functions were evaluated. Patients were classified according to the type of variant and the protein domain where the variants were located. Results: Most patients displayed a typical USH1 phenotype, that is, prelingual severe-profound sensorineural hearing loss, prepubertal retinitis pigmentosa (RP) and vestibular dysfunction. No statistically significant differences were observed for the variables analysed except for the onset of hearing loss due to the existence of two USH2 cases, defined as postlingual sensorineural hearing loss, postpubertal onset of RP, and absence of vestibular dysfunction, and one atypical case of USH. Conclusion: We were unable to find a correlation between genotype and phenotype for MYO7A. However, our findings could prove useful for the assessment of efficacy in clinical trials, since the type of MYO7A variant does not seem to change the onset, severity or course of visual disease.This project was financially supported by the Center for Biomedical Network Research on Rare Diseases (CIBERER), FIS (PI16/00425, PI16/00539 and IIS‐FJD Biobank PT13/0010/0012). LG‐M and IPR were supported by the Río Hortega and predoctoral Programs (CM16/00126 and FI17/00192, respectively) from Institute of Health Carlos III (ISCIII, Spanish Ministry of the Economy, Industry and Competitiveness), Regional Government of Madrid (CAM, B2017/BMD37), and Regional Government of the Valencian Community (PROMETEU/2018/135), with partial support from the European Regional Development Fund (ERDF). Additional support was received from the Ramon Areces Foundation, the University Chair UAM‐IIS‐FJD of Genomic Medicine, ONCE Foundation and the Spanish National Organization of the Blind (ONCE). Drafting of this manuscript was possible thanks to the UshTher project (Clinical trial of gene therapy with dual AAV vectors for retinitis pigmentosa in patients with Usher syndrome type IB), which has received funding from the European Union’s Horizon 2020 research and innovation programme under grant agreement No 754848. The authors are grateful to the families that participated in this study and to the colleagues who referred patients to us. We also thank the Genetics and Ophthalmology Departments of Fundación Jimenez Diaz University Hospital (FJD, Madrid) and Asunción Giménez, Cristina Villaverde, and Ignacio Mahillo for their technical assistance

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

Genotype–phenotype correlation in patients with Usher syndrome and pathogenic variants in MYO7A

PURPOSE: We aimed to establish correlations between the clinical features of a cohort of Usher syndrome (USH) patients with pathogenic variants in MYO7A, type of pathogenic variant, and location on the protein domain. METHODS: Sixty‐two USH patients from 46 families with biallelic variants in MYO7A were examined for visual and audiological features. Participants were evaluated based on self‐reported ophthalmological history and ophthalmological investigations (computerized visual field testing, best‐corrected visual acuity, and ophthalmoscopic and electrophysiological examination). Optical coherence tomography and fundus autofluorescence imaging were performed when possible. Auditory and vestibular functions were evaluated. Patients were classified according to the type of variant and the protein domain where the variants were located. RESULTS: Most patients displayed a typical USH1 phenotype, that is, prelingual severe‐profound sensorineural hearing loss, prepubertal retinitis pigmentosa (RP) and vestibular dysfunction. No statistically significant differences were observed for the variables analysed except for the onset of hearing loss due to the existence of two USH2 cases, defined as postlingual sensorineural hearing loss, postpubertal onset of RP, and absence of vestibular dysfunction, and one atypical case of USH. CONCLUSION: We were unable to find a correlation between genotype and phenotype for MYO7A. However, our findings could prove useful for the assessment of efficacy in clinical trials, since the type of MYO7A variant does not seem to change the onset, severity or course of visual disease

<i>PRPH2</i>-Related Retinal Dystrophies: Mutational Spectrum in 103 Families from a Spanish Cohort

PRPH2, one of the most frequently inherited retinal dystrophy (IRD)-causing genes, implies a high phenotypic variability. This study aims to analyze the PRPH2 mutational spectrum in one of the largest cohorts worldwide, and to describe novel pathogenic variants and genotype–phenotype correlations. A study of 220 patients from 103 families recruited from a database of 5000 families. A molecular diagnosis was performed using classical molecular approaches and next-generation sequencing. Common haplotypes were ascertained by analyzing single-nucleotide polymorphisms. We identified 56 variants, including 11 novel variants. Most of them were missense variants (64%) and were located in the D2-loop protein domain (77%). The most frequently occurring variants were p.Gly167Ser, p.Gly208Asp and p.Pro221_Cys222del. Haplotype analysis revealed a shared region in families carrying p.Leu41Pro or p.Pro221_Cys222del. Patients with retinitis pigmentosa presented an earlier disease onset. We describe the largest cohort of IRD families associated with PRPH2 from a single center. Most variants were located in the D2-loop domain, highlighting its importance in interacting with other proteins. Our work suggests a likely founder effect for the variants p.Leu41Pro and p.Pro221_Cys222del in our Spanish cohort. Phenotypes with a primary rod alteration presented more severe affectation. Finally, the high phenotypic variability in PRPH2 hinders the possibility of drawing genotype–phenotype correlations

Compilación de Proyectos de Investigacion de 1984-2002

Instituto Politecnico Nacional. UPIICS