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Desmin mutations underlie inherited myopathies/cardiomyopathies with varying severity and involvement of the skeletal and cardiac muscles. We developed a transgenic mouse model expressing low level of the L345P desmin mutation (DESMUT mice) in order to uncover changes in skeletal and cardiac muscles caused by this mutation. The most striking ultrastructural changes in muscle from DESMUT mice were

Background: Systematic literature reviews and systematic mapping studies are becoming increasingly common in software engineering, and hence it becomes even more important to better understand the reliability of such studies. Objective: This paper presents a study of two systematic mapping studies to evaluate the reliability of mapping studies and point out some challenges related to this type of

Test sensitivity pertains to the ability of a test to identify subjects with the target disorder. In cancer screening, test sensitivity can be estimated using interval cancer incidence as an indicator of false-negative result. A randomized trial provides the optimal approach for estimating test sensitivity, as the control arm provides the expected rates. We estimated the sensitivity of the prostat

The reactor choice is crucial when designing a process where inactivation of the biocatalyst is a problem. The main bottleneck for the chemo-enzymatic epoxidation has been found to be enzyme inactivation by the hydrogen peroxide, H(2)O(2), substrate. In the work reported here, the effect of reaction parameters on the reaction performance have been investigated and used to establish suitable operat

During the Younger Dryas cold event, the Scandinavian ice sheet readvanced in southwest Sweden and formed the Middle Swedish end-moraine zone (MSEMZ). Recent highway construction near Skara has created an exposure through the prominent ridge at Ledsjo. Through sketching and measurement of structural information, we have documented the internal character of the Ledsjo moraine. The moraine consists

The presenting symptoms and clinical course of 2 cases of intermittent maple syrup urine disease (MSUD) are described. Intermittent MSUD is a potentially life-threatening metabolic disorder caused by a deficiency of branched-chain alpha-keto acid dehydrogenase, the enzyme complex that decarboxylates the 3 branched-chain amino acids. In contrast to classic MSUD, children with the intermittent form

The fuel cell performance of membrane electrode assemblies with a Pt anode and Pd, PdCu or Pd5Cu4Pt cathodes has been tested during 116 h (beginning of life). The incorporation of Cu to Pd increases the fuel cell performance. Incorporation of Pt leads to further improvement. SEM micrographs of the as-prepared and the fuel cell-tested assemblies show the effects of the 116 h of continuous operation

One of the greatest challenges for the transport sector today is reducing its environmental impact. This applies especially to the emission aspects, much due to increasingly stringent emissions legislations. Carbon dioxide (CO2) is considered an important greenhouse gas, but also unburned hydrocarbons (HC), nitric oxides (NOx) and soot pose environmental as well as health risks. Compared to diesel

Tremor is the most common movement disorder presenting to an outpatient neurology practice and is defined as a rhythmical, involuntary oscillatory movement of a body part. The authors review the clinical examination, classification, and diagnosis of tremor. The pathophysiology of the more common forms of tremor is outlined, and treatment options are discussed. Essential tremor is characterized pri

This paper concerns the mean square error optimal weighting factors for multiple window spectrogram of different stationary and nonstationary processes. It is well known that the choice of multiple windows is important, but here we show that the weighting of the different multiple window spectrograms in the final average is as important to consider and that the equally averaged spectrogram is not

The general purpose was to study pragmatically related abilities in children with early-onset brain damage, i.e. children with cerebral palsy (CP) and children with spina bifida and hydrocephalus (SBH), and in a group of children with pragmatic language impairment (PLI). In study I and III children with CP, SBH and PLI were compared. In study I pragmatically related abilities were assessed. No s

Forskningsprogrammet Bygginnovationen går nu in i ett nytt skede. Den pågående analysfasen avslutas i år och de olika utredningsgrupperna presenterade sina resultat vid en workshop den 10:e november. Forskningsprogrammet syftar till att stärka den svenska byggnäringens konkurrenskraft genom förbättrad effektivitet och finansieras av Vinnova tillsammans med ett företagskonsortium.

Viral hepatitis is the leading cause of liver disease worldwide and can be caused by several agents, including hepatitis A (HAV), B (HBV), and C (HCV) virus. We employed multiplexed protein immune assays to identify biomarker signatures of viral hepatitis in order to define unique and common responses for three different acute viral infections of the liver. We performed multianalyte profiling, mea

Popular Abstract in Swedish Diabetes är en grupp av sjukdomar som kännetecknas av förhöjda halter av glukos (socker) i blodet. Förekomsten av diabetes ökar i snabb takt i hela världen. År 2011 var 366 miljoner människor drabbade av diabetes, och denna siffra beräknas till 522 miljoner år 2030 om ingen avgörande åtgärd genomförs. Typ 2 diabetes är den vanligaste formen av diabetes och utgör ungefärThe prevalence of type 2 diabetes (T2D) is increasing worldwide. T2D is a heterogeneous disease caused by a complex interplay between multiple genetic, epigenetic and non-genetic factors. The disease is characterised by impaired insulin secretion from pancreatic β-cells and insulin resistance in peripheral tissues. Mitochondrial ATP production by oxidative phosphorylation (OXPHOS) is known to play

Resonant inelastic x-ray scattering spectra excited at the O1s(-1)pi* resonance of liquid acetone are presented. Scattering to the electronic ground state shows a resolved vibrational progression where the dominant contribution is due to the C-O stretching mode, thus demonstrating a unique sensitivity of the method to the local potential energy surface in complex molecular systems. For scattering

Popular Abstract in Swedish Cystisk fibros (CF) är en ärftlig sjukdom som orsakas av en defekt jonkanal. Denna defekt ger upphov till en onormal saltbalans i kroppen och följderna blir många. I lungorna och magtarmkanalen produceras ett väldigt segt slem vilket täpper till luftvägarna och medför andningssvårigheter. De slemfyllda lungorna klarar inte av att transportera upp slemmet och istället stCystic fibrosis is an inherited disease, caused by mutations of the cystic fibrosis transmembrane conductance regulator gene. The gene codes for a protein that serve as chloride channel. In cystic fibrosis, this protein is lacking or has a defect function resulting in a thick and sticky mucus of the airways. The altered airway environment promotes mucus and growth of pathogenic bacteria. A common