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Hadzik B.,University Childrens Hospital Duesseldorf | Grass H.,Heinrich Heine University Dusseldorf | Mayatepek E.,Heinrich Heine University Dusseldorf | Daldrup T.,Heinrich Heine University Dusseldorf | Hoehn T.,Heinrich Heine University Dusseldorf
Klinische Padiatrie | Year: 2014

The aim of our report is to increase awareness that the antioxidant alpha-lipoic acid, which is marketed primarily as weight loss and energy supplement, has potentially lethal effects. A 14-year-old girl ingested in suicidal intention a large amount of alpha-lipoic acid, which led to multiorgan failure and subsequent death within 24 h. Multiorgan failure consisted of decreased myocardial contractility, seizures, anuria, thrombocytopenia, and coagulopathy. Therapy consisted of ventilation, anticonvulsive treatment and circulatory support with high-dose catecholamines. Conclusion: According to alpha-lipoic acid serum levels following ingestion the girl must have ingested a minimum of 10 alpha-lipoic acid tablets of 600 mg each. This is the first report on a fatal case of alpha-lipoic acid ingestion, which is intended to inform physicians, pharmacists and patients about critical side effects of this allegedly innocuous drug. © Georg Thieme Verlag KG Stuttgart New York ISSN 0300-8630.

Tucci S.,University Hospital Freiburg | Tucci S.,University Childrens Hospital Duesseldorf | Flogel U.,Heinrich Heine University Dusseldorf | Hermann S.,University of Munster | And 3 more authors.
Biochimica et Biophysica Acta - Molecular Basis of Disease | Year: 2014

Hypertrophic cardiomyopathy is a typical manifestation of very long-chain acyl-CoA dehydrogenase deficiency (VLCADD), the most common long-chain β-oxidation defects in humans; however in some patients cardiac function is fully compensated. Cardiomyopathy may also be reversed by supplementation of medium-chain triglycerides (MCT). We here characterize cardiac function of VLCAD-deficient (VLCAD-/-) mice over one year. Furthermore, we investigate the long-term effect of a continuous MCT diet on the cardiac phenotype. We assessed cardiac morphology and function in VLCAD-/- mice by in vivo MRI. Cardiac energetics were measured by 31P-MRS and myocardial glucose uptake was quantified by positron-emission-tomography (PET). Metabolic adaptations were identified by the expression of genes regulating glucose and lipid metabolism using real-time-PCR. VLCAD-/- mice showed a progressive decrease in heart function over 12months accompanied by a reduced phosphocreatine-to-ATP-ratio indicative of chronic energy deficiency. Long-term MCT supplementation aggravated the cardiac phenotype into dilated cardiomyopathy with features similar to diabetic heart disease. Cardiac energy production and function in mice with a β-oxidation defect cannot be maintained with age. Compensatory mechanisms are insufficient to preserve the cardiac energy state over time. However, energy deficiency by impaired β-oxidation and long-term MCT induce cardiomyopathy by different mechanisms. Cardiac MRI and MRS may be excellent tools to assess minor changes in cardiac function and energetics in patients with β-oxidation defects for preventive therapy. © 2014 Elsevier B.V.

Marquard J.,University Childrens Hospital Duesseldorf | Stahl A.,Leibniz Institute for Diabetes Research | Lerch C.,Heinrich Heine University Dusseldorf | Wolters M.,University Childrens Hospital Duesseldorf | And 3 more authors.
Journal of Pediatric Endocrinology and Metabolism | Year: 2011

Background: Low-glycemic index (GI) diet vs. high-GI diet improves glycemic control, but it is not clear whether a low-GI diet is superior to an optimized mixed diet (OMD). Methods: This was a 12-week parallel-group pilot-trial including 17 children with type 1 diabetes. A separate dietary education into the allocated diet (OMD vs. low-GI) was performed. Nutrition was recorded by means of a three-day dietary record. Objectives: The primary objective was to determine the macro- and micronutrient composition of the different diets, the secondary objective was to determine the short-term effect on HbA1c levels. Results: In the low-GI group carbohydrate intake decreased, fat intake increased by trend. In the OMD group fat and energy intake decreased. No changes of HbA1c levels between the groups were observed. Conclusion: OMD could have positive effects in overweight and obese diabetic children, since a reduction in fat and energy intake can be achieved. The findings of this pilot-trial suggest that OMD could be superior to a low-GI diet. © 2011 by Walter de Gruyter Berlin Boston.

Stienen A.,University Childrens Hospital Duesseldorf | Stienen A.,RWTH Aachen | Feyen O.,University Childrens Hospital Duesseldorf | Niehues T.,University Childrens Hospital Duesseldorf
European Cytokine Network | Year: 2011

Interleukin (IL)-7 is thought to be a non-redundant cytokine for lymphopoiesis as there is a reduction of T and B cells in peripheral blood (PB) and a loss of TCRγδ+ cells in PB and bone marrow (BM) in IL-7-/- mice. To investigate whether the absence of IL-7 influences the organ-dependent distribution of the lymphocytes, we analyzed single cell suspensions of several organs (BM, lung, liver, small intestine, and spleen) at different ages (three and 12 months) of IL-7+/+ and IL-7-/- mice using flow cytometry; immunohistochemical staining was performed on frozen sections of various organs.We observed lymphocytopenia in almost all organs of IL-7-/- mice, but normal counts in the liver and the lung of three-month-old IL-7-/- mice. CD4+ and CD8+ cell numbers were decreased in the spleen and the BM. With aging, we found a greater increase in CD4+ and CD8+ cells in the BM of IL-7-/- than in IL-7+/+ mice, particularly of memory cells. The spleen of IL-7-/- mice was characterized by lymphocytopenia.We challenge the view that IL-7 is a non-redundant cytokine for lymphocyte development. Some of the changes observed, e.g. partial absence of TCRγδ+ T cells in the PB,BMand small intestine and complete loss in liver, lung and spleen, may be due to the altered organ distribution instead of a defect in γδ+ T cell lymphopoiesis. In this model, aging leads to a significantly altered composition of lymphocyte subsets, and the lack of IL-7 seems to accelerate this process.

Ruegger C.M.,University of Zurich | Ruegger C.M.,Childrens Research Center | Lindner M.,University of Heidelberg | Ballhausen D.,University of Lausanne | And 30 more authors.
Journal of Inherited Metabolic Disease | Year: 2014

Urea cycle disorders (UCDs) are inherited disorders of ammonia detoxification often regarded as mainly of relevance to pediatricians. Based on an increasing number of case studies it has become obvious that a significant number of UCD patients are affected by their disease in a non-classical way: presenting outside the newborn period, following a mild course, presenting with unusual clinical features, or asymptomatic patients with only biochemical signs of a UCD. These patients are surviving into adolescence and adulthood, rendering this group of diseases clinically relevant to adult physicians as well as pediatricians. In preparation for an international workshop we collected data on all patients with non-classical UCDs treated by the participants in 20 European metabolic centres. Information was collected on a cohort of 208 patients 50% of which were ≥ 16 years old. The largest subgroup (121 patients) had X-linked ornithine transcarbamylase deficiency (OTCD) of whom 83 were female and 29% of these were asymptomatic. In index patients, there was a mean delay from first symptoms to diagnosis of 1.6 years. Cognitive impairment was present in 36% of all patients including female OTCD patients (in 31%) and those 41 patients identified presymptomatically following positive newborn screening (in 12%). In conclusion, UCD patients with non-classical clinical presentations require the interest and care of adult physicians and have a high risk of neurological complications. To improve the outcome of UCDs, a greater awareness by health professionals of the importance of hyperammonemia and UCDs, and ultimately avoidance of the still long delay to correctly diagnose the patients, is crucial. © 2013 The Author(s).

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