Whole exome resequencing reveals recessive mutations in TRAP1 in individuals with CAKUT and VACTERL association

Congenital abnormalities of the kidney and urinary tract (CAKUT) account for approximately half of children with chronic kidney disease and they are the most frequent cause of end-stage renal disease in children in the US. However, its genetic etiology remains mostly elusive. VACTERL association is a rare disorder that involves congenital abnormalities in multiple organs including the kidney and urinary tract in up to 60% of the cases. By homozygosity mapping and whole exome resequencing combined with high-throughput mutation analysis by array-based multiplex PCR and next-generation sequencing, we identified recessive mutations in the gene TNF receptor-associated protein 1 (TRAP1) in two families with isolated CAKUT and three families with VACTERL association. TRAP1 is a heat shock protein 90-related mitochondrial chaperone possibly involved in antiapoptotic and endoplasmic reticulum-stress signaling. Trap1 is expressed in renal epithelia of developing mouse kidney E13.5 and in the kidney of adult rats, most prominently in proximal tubules and in thick medullary ascending limbs of Henle’s loop. Thus, we identified mutations in TRAP1 as highly likely causing CAKUT or CAKUT in VACTERL association

Austerity, policy and sport participation in England

This study seeks to understand participation levels in sport across socio-demographic groups, specifically for the period 2008–14, in the context of austerity measures taken by central government resulting in local authority income and expenditure reductions. Participation levels over time were analysed using data from the Active People Survey (APS), which was the preferred method for measuring participation by Sport England until its replacement in 2015. Budgetary constraints in local authorities have subsequently resulted in an expenditure decrease for non-discretionary services including ‘sport development and community recreation’. This area of expenditure forms one component of sport-related services and primarily focuses on raising participation in ‘hard-to-reach’ groups. The study found that policy goals associated with raising and widening participation were not met to any significant degree between 2008 and 2014 as participation levels have changed little for lower income ‘hard-to-reach’ groups. It is claimed that this outcome is in part due to austerity measures impacting on local authority expenditure. This study has implications for policymakers and practitioners as it illustrates both the challenges faced in setting and delivering policy aimed at raising participation levels in ‘hard-to-reach’ groups, particularly in the context of austerity, and the difficulties associated with measuring participation

Veränderte Anforderungen in der Beruflichen Bildung: Chancen und Risiken der Teilhabe für Menschen mit Behinderungen und Beeinträchtigungen

Fachtagung vom 19. – 20. März 2015 an der Technischen Universität Dresde

BABYLON fuer den Systemprogrammierer

SIGLETIB Hannover: RO 8300(28) / FIZ - Fachinformationszzentrum Karlsruhe / TIB - Technische InformationsbibliothekDEGerman

Autochthonous and dormant Cryptococcus gattii infections in Europe.

Contains fulltext : 124268.pdf (publisher's version ) (Open Access)Until recently, Cryptococcus gattii infections occurred mainly in tropical and subtropical climate zones. However, during the past decade, C. gattii infections in humans and animals in Europe have increased. To determine whether the infections in Europe were acquired from an autochthonous source or associated with travel, we used multilocus sequence typing to compare 100 isolates from Europe (57 from 40 human patients, 22 from the environment, and 21 from animals) with 191 isolates from around the world. Of the 57 human patient isolates, 47 (83%) were obtained since 1995. Among the 40 patients, 24 (60%) probably acquired the C. gattii infection outside Europe; the remaining 16 (40%) probably acquired the infection within Europe. Human patient isolates from Mediterranean Europe clustered into a distinct genotype with animal and environmental isolates. These results indicate that reactivation of dormant C. gattii infections can occur many years after the infectious agent was acquired elsewhere.1 oktober 201

Decreasing sedentary behaviours in pre-adolescents using casual exergames at school

There are risks to too much sedentary behaviour, regardless of a person's level of physical activity, particularly for children. As exercise habits instilled during childhood are strong predictors of healthy lifestyles later in life, it is important that schools break up long sedentary periods with short periods of physical activity. Casual exergames are an appealing option for schools who wish to engage adolescents, and have been shown to provide exertion levels at recommended values, even when played for only 10 minutes. In this paper we describe a preliminary survey with teachers of a local school that informed the deployment of a casual exergame with a group of preadolescent students from the same school. We show that students preferred the game to traditional exercise, that the game was able to generate appropriate levels of exertion in pre-adolescents, and that students have a sophisticated understanding of the role of exercise in their lives. Overall, we establish the feasibility of casual exergames for combating sedentary behavior in preteen classrooms. © 2014 ACM