Guía metodológica para la elaboración de planes de igualdad en entidades del Sistema Sanitario Público de Andalucía (SSPA)

Currently equality plans are an effective tool to incorporate equal opportunities in human resource management of both companies and public administrations. They are also the appropriate mechanism to detect possible disparities and gender gaps in employment. Configured as an ordered set of actions and measures taken after a diagnosis of the situation and help organizations to promote equal treatment and opportunities between women and men in the workplace, and help eliminate discrimination based on sex. In this regard, the Directorate General of Health Planning and Innovation of the Ministry of Health, intends to promote and facilitate the development and implementation of equality plans in institutions and centers of the Andalusian Public Health System. This has raised the production and dissemination of a methodological guide that supports the design of equality plans in unison to allow both the completion of the monitoring process as the development and practical implementation of those plans.

Mapa de indicadores para integrar la perspectiva de género en el Sistema Sanitario Público de Andalucía (SSPA)

Organizadores: AFOE (Asociación para la Formación, el Ocio y el Empleo)y Grupo MIDO (Métodos de Investigación y Diagnóstico en Orientación). Facultad de Ciencias de la Educación. Universidad de Sevilla. Web del Congreso: http://www.empleoeigualdad.es/congreso/

Molecular testing for fragile X: analysis of 5062 tests from 1105 fragile X families--performed in 12 clinical laboratories in Spain.

Fragile X syndrome is the most common inherited form of intellectual disability. Here we report on a study based on a collaborative registry, involving 12 Spanish centres, of molecular diagnostic tests in 1105 fragile X families comprising 5062 individuals, of whom, 1655 carried a full mutation or were mosaic, three cases had deletions, 1840 had a premutation, and 102 had intermediate alleles. Two patients with the full mutation also had Klinefelter syndrome. We have used this registry to assess the risk of expansion from parents to children. From mothers with premutation, the overall rate of allele expansion to full mutation is 52.5%, and we found that this rate is higher for male than female offspring (63.6% versus 45.6%; P < 0.001). Furthermore, in mothers with intermediate alleles (45-54 repeats), there were 10 cases of expansion to a premutation allele, and for the smallest premutation alleles (55-59 repeats), there was a 6.4% risk of expansion to a full mutation, with 56 repeats being the smallest allele that expanded to a full mutation allele in a single meiosis. Hence, in our series the risk for alleles of <59 repeats is somewhat higher than in other published series. These findings are important for genetic counselling.