Congenital muscle dystrophy type 1A (MDC1A) is a muscle disease caused bymutations in the LAMA2 gene, encoding the basement membrane protein lamininα2 chain. MDC1A patients exhibit neonatal onset of muscle weakness, progressivemuscle wasting and hypotonia, joint contractures that mostly affect elbows, hips,knees and ankles along with scoliosis and delayed motor milestones. Currently,there is no cu

Water introduction in the micro gas turbine (mGT) cycle is considered the optimal route for waste heat recovery and flexibility increase of such a small-scale combined heat and power (CHP) unit. However, humidification of the combustion air in a mGT affects combustion stability, efficiency, and exhaust gas emissions. This can lead to a non-stable, incomplete combustion, which will affect the globa

Hur stor bör den svenska statsskulden vara? I dag finns en livlig debatt kring frågan, knuten till överskottsmålets vara eller inte vara. Den ekonomiska litteraturen ger inget klart svar. Storleken på den ”optimala” eller lämpliga statsskulden beror på både vilken teori eller riktlinje som är utgångspunkten och vilken empirisk metod som används. Vi argumenterar för att statsskulden mätt som Maastr

The London public transport suicide bombings, which occurred on 7th July 2005, were described as the worst single terrorist atrocity on British soil to date. Past acts of terrorism have been associated with deterioration in population mental health. They may also negatively impact levels of social capital, which is considered a buffer against poor mental health outcomes. By employing panel data fr

Asthma is a chronic inflammatory disease of the airways, affecting and disablingapproximately 300 million people worldwide. The inflammatory profile ischaracterized by infiltration of eosinophils, which are a rich source of factors thatare implicated in tissue remodeling. The chronic inflammatory response and theremodeled phenotype create a hospitable environment for secondary bacterialinfections.

Betydande delar av denkommunalaverksamhetenbedrivs utanför nämnds-och förvaltningsorganisationen, i bolag, kommunalförbund etc. En stor del av kommunernas tillgångar, åtaganden och kostnader redovisas därför inte i förvaltningsorganisationen. Därför är den sammanställda redovisningen, ”kommunal koncernredovisning” betydelsefull,för att visa hela kommunens ekonomi, och därmed ekonomiska hushållning

Non-specific chromosomal aberrations (CAs) are microscopically detected in about 1% of lymphocytes drawn from healthy persons. Causes of CAs in general population are not known but they may be related to risk of cancer. In view of the importance of the mitotic checkpoint machinery on maintaining chromosomal integrity we selected 9 variants in main checkpoint related genes (BUB1B, BUB3, MAD2L1, CEN