Estudio molecular en dos hermanas afectadas por ictiosis congénita autosómica recesiva : descripción de una nueva mutación causal en TGM1

Se describe la variante homocigota c.320-2A>G de TGM1 en dos hermanas con ictiosis congénita autosómica recesiva. El clonaje de los transcritos generados por esta variante permitió identificar tres mecanismos moleculares de splicing alternativos.

Effect of the human papillomavirus (HPV) quadrivalent vaccine in a subgroup of women with cervical and vulvar disease: Retrospective pooled analysis of trial data

Objectives To determine the effect of human papillomavirus (HPV) quadrivalent vaccine on the risk of developing subsequent disease after an excisional procedure for cervical intraepithelial neoplasia or diagnosis of genital warts, vulvar intraepithelial neoplasia, or vaginal intraepithelial neoplasia. Design Retrospective analysis of data from two international, double blind, placebo controlled, randomised efficacy trials of quadrivalent HPV vaccine (protocol 013 (FUTURE I) and protocol 015 (FUTURE II)). Setting Primary care centres and university or hospital associated health centres in 24 countries and territories around the world. Participants Among 17 622 women aged 15–26 years who underwent 1:1 randomisation to vaccine or placebo, 2054 received cervical surgery or were diagnosed with genital warts, vulvar intraepithelial neoplasia, or vaginal intraepithelial neoplasia. Intervention Three doses of quadrivalent HPV vaccine or placebo at day 1, month 2, and month 6. Main outcome measures Incidence of HPV related disease from 60 days after treatment or diagnosis, expressed as the number of women with an end point per 100 person years at risk. Results A total of 587 vaccine and 763 placebo recipients underwent cervical surgery. The incidence of any subsequent HPV related disease was 6.6 and 12.2 in vaccine and placebo recipients respectively (46.2% reduction (95% confidence interval 22.5% to 63.2%) with vaccination). Vaccination was associated with a significant reduction in risk of any subsequent high grade disease of the cervix by 64.9% (20.1% to 86.3%). A total of 229 vaccine recipients and 475 placebo recipients were diagnosed with genital warts, vulvar intraepithelial neoplasia, or vaginal intraepithelial neoplasia, and the incidence of any subsequent HPV related disease was 20.1 and 31.0 in vaccine and placebo recipients respectively (35.2% reduction (13.8% to 51.8%)). Conclusions Previous vaccination with quadrivalent HPV vaccine among women who had surgical treatment for HPV related disease significantly reduced the incidence of subsequent HPV related disease, including high grade disease.

Interdisciplinary Pedagogical Experience for Health Human Resources Focused on the Holistic Promotion of Health and the Prevention of the Disease

The object of this experience is to offer the students the opportunity to take part in the construction of a pedagogic strategy centred on the ludic, for the promotion of the integral health and the prevention of the disease with an educational community; directed to supporting and qualifying the well-being so much individually as group. The project is designed to five years, about interdisciplinary character (Speech Therapy, Medicine, Psychology, Nursery, Occupational Therapy), interinstitutional (Universidad del Rosario, Universidad de San Buenaventura y Universidad de Cundinamarca) and intersectorial (Education and Health). It considers the different actors of the educational community and school and the home as propitious scenes for the strengthening potential, beside being the fundamental spaces for the construction of knowledges and learnings concerning the integral health. To achieve the target, one has come constructing from the second semester of 2003, one pedagogic strategy centred on the ludic and the creativity, from which they are planned, they develop and evaluate the actions of promotion of skills, values, behaviors and attitudes in the care of the health and the prevention of disease, orientated to the early, opportune and effective detection of risk factors and problematic of the development that they affect the integral health. The above mentioned strategy raises a so called scene Bienestarópolis: A healthy world for conquering, centred on prominent figures, spaces and elements that alternate between the fantasy and the reality to facilitate the approximation, the interiorización and the appropriation of the integral health. Across this one, the children motivated by the adults enter an imaginary world in that theirs desires, knowledges and attitudes are the axis of his development. Since Vigotsky raises it, in the game the child realizes actions in order to adapt to the world that surrounds it acquiring skills for the learning. The actions of the project have involved 410 children and 25 teachers, of the degrees Zero, The First and The Second of basic primary; 90 parents of family, and an average of 40 students and 8 teachers of the already mentioned disciplines.

Natural resources, redistribution and Human capital formation

How do resource booms affect human capital accumulation? We exploit time and spatial variation generated by the commodity boom across local governments in Peru to measure the effect of natural resources on human capital formation. We explore the effect of both mining production and tax revenues on test scores, finding a substantial and statistically significant effect for the latter. Transfers to local governments from mining tax revenues are linked to an increase in math test scores of around 0.23 standard deviations. We find that the hiring of permanent teachers as well as the increases in parental employment and improvements in health outcomes of adults and children are plausible mechanisms for such large effect on learning. These findings suggest that redistributive policies could facilitate the accumulation of human capital in resource abundant developing countries as a way to avoid the natural resources curse.