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

The present and future of QCD

This White Paper presents an overview of the current status and future perspective of QCD research, based on the community inputs and scientific conclusions from the 2022 Hot and Cold QCD Town Meeting. We present the progress made in the last decade toward a deep understanding of both the fundamental structure of the sub-atomic matter of nucleon and nucleus in cold QCD, and the hot QCD matter in heavy ion collisions. We identify key questions of QCD research and plausible paths to obtaining answers to those questions in the near future, hence defining priorities of our research over the coming decades

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