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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
Obesity is a major global public health problem, and understanding its pathogenesis is critical for identifying a cure. In this study, a gene knockout strategy was used in post-neonatal mice to delete synoviolin (Syvn) 1/Hrd1/Der3, an ER-resident E3 ubiquitin ligase with known roles in homeostasis maintenance. Syvn1 deficiency resulted in weight loss and lower accumulation of white adipose tissue
Evidence of interactions between the enteric nervous system, neuropeptides, and the immune system is growing. The aim of this study was to examine basal plasma levels of a variety of peptide precursors in patients with inflammatory bowel disease (IBD). In two middle-aged cohorts, Malmö Preventive Medicine (n = 5,415) and Malmö Diet and Cost Study (n = 6,103), individuals with the diagnosis of IBD
The term 'national innovation systems' surfaced for the first time in print during the late 1980s and, in the years that followed, several important contributions on this topic appeared. This paper investigates the role that this new literature plays within innovation studies and the world of science more generally and discusses the sources for its emergence. With the help of expert assessments, t
