Editorial

Analysis of current topics of engineering.Análisis de temas actuales en ingenierí

Editorial

Analysis of current topics of engineering.Análisis de temas actuales en ingenierí

Editorial

Analysis of current topics of engineering.Análisis de temas actuales en ingeniería

Editorial

Analysis of current topics of engineeringAnálisis de temas actuales en ingenierí

Innovar para Educar: Prácticas universitarias exitosas. Tomo 5

La Universidad del Norte y el Centro para la Excelencia Docente (CEDU), interesados en compartir con la comunidad académica y público en general las experiencias pedagógicas exitosas realizadas por docentes de diferentes áreas disciplinares, trae ahora el tomo 5 de la colección “Innovar para Educar: Prácticas universitarias exitosas”, en donde encontrarán 8 capítulos que describen las diferentes propuestas de 14 docentes de la institución, que en un momento de reflexión decidieron cambiar el desarrollo habitual de sus clases. Este impulso los condujo por caminos de planificación, implementación y evaluación sistemática que hoy se ven reflejados en su buena práctica de aula y en los resultados de aprendizaje de sus estudiantes

Aulas develadas 3: La práctica, con investigación, se cambia

Este tercer libro de la colección “Aulas develadas: La práctica, con investigación, se cambia”, producto de las investigaciones de aula adelantadas por docentes de la Universidad del Norte, con el apoyo del Centro para la Excelencia Docente (CEDU) en el programa Círculo de Escritura, lo componen seis capítulos que recopilan los resultados de trabajos realizados por docentes de las áreas Ciencia política y Relaciones internacionales, Matemáticas, Psicología e Ingeniería. Confiamos en que los hallazgos que aquí se presentan sean de interés para los lectores y puedan ser compartidos de manera amplia entre distintos públicos

Identification of genetic variants associated with Huntington's disease progression: a genome-wide association study

Background Huntington's disease is caused by a CAG repeat expansion in the huntingtin gene, HTT. Age at onset has been used as a quantitative phenotype in genetic analysis looking for Huntington's disease modifiers, but is hard to define and not always available. Therefore, we aimed to generate a novel measure of disease progression and to identify genetic markers associated with this progression measure. Methods We generated a progression score on the basis of principal component analysis of prospectively acquired longitudinal changes in motor, cognitive, and imaging measures in the 218 indivduals in the TRACK-HD cohort of Huntington's disease gene mutation carriers (data collected 2008–11). We generated a parallel progression score using data from 1773 previously genotyped participants from the European Huntington's Disease Network REGISTRY study of Huntington's disease mutation carriers (data collected 2003–13). We did a genome-wide association analyses in terms of progression for 216 TRACK-HD participants and 1773 REGISTRY participants, then a meta-analysis of these results was undertaken. Findings Longitudinal motor, cognitive, and imaging scores were correlated with each other in TRACK-HD participants, justifying use of a single, cross-domain measure of disease progression in both studies. The TRACK-HD and REGISTRY progression measures were correlated with each other (r=0·674), and with age at onset (TRACK-HD, r=0·315; REGISTRY, r=0·234). The meta-analysis of progression in TRACK-HD and REGISTRY gave a genome-wide significant signal (p=1·12 × 10−10) on chromosome 5 spanning three genes: MSH3, DHFR, and MTRNR2L2. The genes in this locus were associated with progression in TRACK-HD (MSH3 p=2·94 × 10−8 DHFR p=8·37 × 10−7 MTRNR2L2 p=2·15 × 10−9) and to a lesser extent in REGISTRY (MSH3 p=9·36 × 10−4 DHFR p=8·45 × 10−4 MTRNR2L2 p=1·20 × 10−3). The lead single nucleotide polymorphism (SNP) in TRACK-HD (rs557874766) was genome-wide significant in the meta-analysis (p=1·58 × 10−8), and encodes an aminoacid change (Pro67Ala) in MSH3. In TRACK-HD, each copy of the minor allele at this SNP was associated with a 0·4 units per year (95% CI 0·16–0·66) reduction in the rate of change of the Unified Huntington's Disease Rating Scale (UHDRS) Total Motor Score, and a reduction of 0·12 units per year (95% CI 0·06–0·18) in the rate of change of UHDRS Total Functional Capacity score. These associations remained significant after adjusting for age of onset. Interpretation The multidomain progression measure in TRACK-HD was associated with a functional variant that was genome-wide significant in our meta-analysis. The association in only 216 participants implies that the progression measure is a sensitive reflection of disease burden, that the effect size at this locus is large, or both. Knockout of Msh3 reduces somatic expansion in Huntington's disease mouse models, suggesting this mechanism as an area for future therapeutic investigation

Editorial Policy

Descripción de todos los aspectos que debe considerar un autor al presentar un artículo a la revista.Description of all the things that an author needs to consider for submitting an article to the journal

Norma Editorial

Description of all the things that an author needs to consider for submitting an article to the journal.Descripción de todos los aspectos que debe considerar un autor al presentar un artículo a la revista

Norma Editorial

Description of all the things that an author needs to consider for submitting an article to the journal.Descripción de todos los aspectos que debe considerar un autor al presentar un artículo a la revista