A novel delins mutation in the alpha-TTP gene in a family segregating ataxia with isolated vitamin E deficiency

14 p., figuras y bibliografíaAtaxia with isolated vitamin E deficiency (AVED) is a rare autosomal recessive neurodegenerative disease due to mutations in the alpha-TTP (alpha-tocopherol transfer protein) gene. In AVED, the biochemical hallmark is the low plasmatic levels of vitamin E and in most of patients, vitamin E supplementation allows a stabilization of the neurological conditions. We have investigated the genetic cause of ataxia and reduced levels of vitamin E, and apolipoproteins A1 (apoA1) and B (apoB) in a 16-year-old patient. Results revealed that our propositus is a compound heterozygote for the c.227_229delinsATT/c.744delA mutations in the -TTP gene, each inherited from one of the two parents. His sister is also a compound heterozygote for both mutations and she presents a biochemical pattern similar to that of his brother. After receiving the vitamin E supplementation, plasmatic levels of vitamin E and apoA1 have been normalized in the propositus. The detected mutations would justify the undetectable levels of vitamin E, but would not explain the also decreased levels of the apolipoproteins, as neither that after treatment with vitamin E, the levels of apoB do not become normal. These findings suggest that other genes may play a role in producing this atypical biochemical profile.This work was supported by the Spanish Network on Cerebellar Ataxias of the Instituto de Salud Carlos III (grant G03/56). The CIBERER is an initiative of the Instituto de Salud Carlos III.Peer reviewe

Desarrollo de la expresión oral en la ESO desde la participación activa del alumnado en las diferentes áreas

El dominio de la expresión oral influye en las bases de un buen aprendizaje. Por ello el objeto de este proyecto es fomentar el aprendizaje de los procedimientos relacionados con la exposición y familiarizarse con sus componentes: título, tema, introducción, desarrollo, documentación y conclusión. Otros objetivos son analizar los elementos de la comunicación no verbal, desarrollar la expresión oral y dotar de coherencia la creación de textos. Las estrategias que ponen en práctica para llevar a cabo el trabajo son el diálogo, la investigación bibliográfica, el coloquio, el debate, la declamación, la dramatización, el taller literario y el libro-forum. La metodología consiste en preparar una exposición, tanto individual, como por parejas, como en grupo, grabarla y evaluar el resultado. En la evaluación se hace especial hincapié en el control de la expresión oral. Incluye memoria de las actividades desarrolladas por los departamentos..Madrid (Comunidad Autónoma). Consejería de Educación. Dirección General de Mejora de la Calidad de la EnseñanzaMadridMadrid (Comunidad Autónoma). Subdirección General de Formación del Profesorado. CRIF Las Acacias; General Ricardos 179 - 28025 Madrid; Tel. + 34915250893ES

Down syndrome as risk factor for respiratory syncytial virus hospitalization : A prospective multicenter epidemiological study

Respiratory syncytial virus (RSV) infection in childhood, particularly in premature infants, is associated with significant morbidity and mortality. To compare the hospitalization rates due to RSV infection and severity of disease between infants with and without Down syndrome (DS) born at term and without other associated risk factors for severe RSV infection. In a prospective multicentre epidemiological study, 93 infants were included in the DS cohort and 68 matched by sex and data of birth (±1 week) and were followed up to 1 year of age and during a complete RSV season. The hospitalization rate for all acute respiratory infection was significantly higher in the DS cohort than in the non-DS cohort (44.1% vs 7.7%, P<.0001). Hospitalizations due to RSV were significantly more frequent in the DH cohort than in the non-DS cohort (9.7% vs 1.5%, P=.03). RSV prophylaxis was recorded in 33 (35.5%) infants with DS. The rate of hospitalization according to presence or absence of RSV immunoprophylaxis was 3.0% vs 15%, respectively. Infants with DS showed a higher rate of hospitalization due to acute lower respiratory tract infection and RSV infection compared to non-DS infants. Including DS infants in recommendations for immunoprophylaxis of RSV disease should be considered