1. The value of plasma vitamin B6 profiles in early onset epileptic encephalopathies.

    Journal of Inherited Metabolic Disease 39(5):733 (2016) PMID 27342130

    Recent decades have unravelled the molecular background of a number of inborn errors of metabolism (IEM) causing vitamin B6-dependent epilepsy. As these defects interfere with vitamin B6 metabolism by different mechanisms, the plasma vitamin B6 profile can give important clues for further molecu...
  2. Clinical phenotype, biochemical profile, and treatment in 19 patients with arginase 1 deficiency.

    Journal of Inherited Metabolic Disease 39(3):331 (2016) PMID 27038030

    Arginase 1 (ARG1) deficiency is a rare urea cycle disorder (UCD). This hypothesis-generating study explored clinical phenotypes, metabolic profiles, molecular genetics, and treatment approaches in a cohort of children and adults with ARG1 deficiency to add to our understanding of the underlying ...
  3. Resolvin D1 Polarizes Primary Human Macrophages toward a Proresolution Phenotype through GPR32.

    Journal of Immunology 196(8):3429 (2016) PMID 26969756

    Resolvin D1 (RvD1) was shown to be a potent anti-inflammatory and proresolution lipid mediator in several animal models of inflammation, but its mechanism of action in humans is not clear. We show that the RvD1 receptor GPR32 is present on resting, proinflammatory M(LPS) and alternatively activa...
  4. Diagnostic performance of S100B protein serum measurement in detecting intracranial injury in children with mild head trauma.

    Emergency Medicine Journal 33(1):42 (2016) PMID 26283067

    To assess the accuracy of S100B serum level to detect intracranial injury in children with mild traumatic brain injury. A multicenter prospective cohort study was carried out in the paediatric emergency departments of three tertiary hospitals in Switzerland between January 2009 and December 2011...
  5. LC-MS/MS based assay and reference intervals in children and adolescents for oxysterols elevated in Niemann-Pick diseases.

    Clinical Biochemistry 48(9):596 (2015) PMID 25819840

    Niemann-Pick type C (NP-C) is a rare progressive neurodegenerative lipid storage disorder with heterogeneous clinical presentation and challenging diagnostic procedures. Recently oxysterols have been reported to be specific biomarkers for NP-C but knowledge on the intra-individual variation and ...
  6. Genetic associations with coronary heart disease: meta-analyses of 12 candidate genetic variants.

    Gene 558(2):299 (2015) PMID 25592824

  7. ChemR23, the receptor for chemerin and resolvin E1, is expressed and functional on M1 but not on M2 macrophages.

    Journal of Immunology 194(5):2330 (2015) PMID 25637017

    ChemR23 is a G protein-coupled receptor that is triggered by two ligands, the peptide chemerin and the eicosapentaenoic acid-derived lipid mediator resolvin E1 (RvE1). Chemerin acts as a chemoattractant for monocytes and macrophages, whereas RvE1 promotes resolution of inflammation-inducing macr...
  8. Propofol (Diprivan®) and Intralipid® exacerbate insulin resistance in type-2 diabetic hearts by impairing GLUT4 trafficking.

    Anesthesia & Analgesia 120(2):329 (2015) PMID 25437926

    The IV anesthetic, propofol, when administered as fat emulsion-based formulation (Diprivan) promotes insulin resistance, but the direct effects of propofol and its solvent, Intralipid, on cardiac insulin resistance are unknown. Hearts of healthy and type-2 diabetic rats (generated by fructose fe...
  9. Effects of Steroid Hormones on Sex Differences in Cerebral Perfusion.

    PLoS ONE 10(9):e0135827 (2015) PMID 26356576 PMCID PMC4565711

    Sex differences in the brain appear to play an important role in the prevalence and progression of various neuropsychiatric disorders, but to date little is known about the cerebral mechanisms underlying these differences. One widely reported finding is that women demonstrate higher cerebral per...
  10. G-protein receptor kinase 4 polymorphism and response to antihypertensive therapy.

    Clinical Chemistry 60(12):1543 (2014) PMID 25301854

    G-protein receptor kinase 4 polymorphism influences blood pressure regulation via modulation of dopamine receptor D1 in renal proximal tubular cells. We investigated the role of G-protein receptor kinase 4 polymorphism in the response to hypertensive therapy in patients with essential hypertensi...
  11. Low dose aspirin is associated with plasma chemerin levels and may reduce adipose tissue inflammation.

    Atherosclerosis 235(2):256 (2014) PMID 24880897

    Chemerin is a peptide chemoattractant for macrophages and an adipokine regulating adipocyte differentiation and metabolism. Plasma chemerin is increased in chronic inflammatory diseases and in obesity. As inflammation and obesity are risk factors for coronary artery disease (CAD), we investigate...
  12. Sugar-sweetened beverages with moderate amounts of fructose, but not sucrose, induce Fatty Acid synthesis in healthy young men: a randomized crossover study.

    Journal of Clinical Endocrinology & Metabolism 99(6):2164 (2014) PMID 24601726

    The impact of sugar-sweetened beverages (SSB) on lipid metabolism when consumed in moderate amounts by normal weight subjects is debated. The objective of the study was to investigate the effect of different types of sugars in SSB on fatty acid metabolism (ie, fatty acid synthesis and oxidation)...
  13. Association of polymorphisms in the ALOX15B gene with coronary artery disease.

    Clinical Biochemistry 47(6):349 (2014) PMID 24373925

    Atherosclerosis is a multifactorial disease and the underlying cause of coronary artery disease (CAD), myocardial infarction and stroke. Two main features are involved in the progression of atherosclerosis, lipid retention and inflammation. 12/15-lipoxygenases are involved in inflammation and ha...
  14. Early mitochondrial dysfunction in glycolytic muscle, but not oxidative muscle, of the fructose-fed insulin-resistant rat.

    American Journal of Physiology - Endocrinology ... 306(6):E658 (2014) PMID 24425766 PMCID PMC3948982

    Although evidence that type 2 diabetes mellitus (T2DM) is accompanied by mitochondrial dysfunction in skeletal muscle has been accumulating, a causal link between mitochondrial dysfunction and the pathogenesis of the disease remains unclear. Our study focuses on an early stage of the disease to ...
  15. Antioxidant supplements reduced oxidative stress and stabilized liver function tests but did not reduce inflammation in a randomized controlled trial in obese children and adolescents.

    Journal of Nutrition 144(2):193 (2014) PMID 24353344

    Oxidative stress and low-grade systemic inflammation may contribute to the pathogenesis of obesity-induced comorbidities, including nonalcoholic fatty liver disease. Increasing intake of dietary antioxidants might be beneficial, but there are few data in obese children. To examine the effect of ...
  16. The mechanism of Intralipid®-mediated cardioprotection complex IV inhibition by the active metabolite, palmitoylcarnitine, generates reactive oxygen species and activates reperfusion injury salvage kinases.

    PLoS ONE 9(1):e87205 (2014) PMID 24498043 PMCID PMC3907505

    Intralipid® administration at reperfusion elicits protection against myocardial ischemia-reperfusion injury. However, the underlying mechanisms are not fully understood. Sprague-Dawley rat hearts were exposed to 15 min of ischemia and 30 min of reperfusion in the absence or presence of Intralipi...
  17. Loss of Intralipid®- but not sevoflurane-mediated cardioprotection in early type-2 diabetic hearts of fructose-fed rats: importance of ROS signaling.

    PLoS ONE 9(8):e104971 (2014) PMID 25127027 PMCID PMC4134246

    Insulin resistance and early type-2 diabetes are highly prevalent. However, it is unknown whether Intralipid® and sevoflurane protect the early diabetic heart against ischemia-reperfusion injury. Early type-2 diabetic hearts from Sprague-Dawley rats fed for 6 weeks with fructose were exposed to ...
  18. Clinical criteria replenish high-sensitive troponin and inflammatory markers in the stratification of patients with suspected acute coronary syndrome.

    PLoS ONE 9(6):e98626 (2014) PMID 24892556 PMCID PMC4043791

    In patients with suspected acute coronary syndrome (ACS), rapid triage is essential. The aim of this study was to establish a tool for risk prediction of 30-day cardiac events (CE) on admission. 30-day cardiac events (CE) were defined as early coronary revascularization, subsequent myocardial in...
  19. Fatty acid-induced mitochondrial uncoupling elicits inflammasome-independent IL-1α and sterile vascular inflammation in atherosclerosis.

    Nature Immunology 14(10):1045 (2013) PMID 23995233

    Chronic inflammation is a fundamental aspect of metabolic disorders such as obesity, diabetes and cardiovascular disease. Cholesterol crystals are metabolic signals that trigger sterile inflammation in atherosclerosis, presumably by activating inflammasomes for IL-1β production. We found here th...
  20. A VLP-based vaccine against interleukin-1α protects mice from atherosclerosis.

    European Journal of Immunology 43(3):716 (2013) PMID 23254454

    Interleukin (IL)-1α is a potent proinflammatory cytokine that has been implicated in the development of atherosclerosis. We investigated whether a vaccine inducing IL-1α neutralizing antibodies could interfere with disease progression in a murine model of atherosclerosis. We immunized Apolipopro...