Strobel E.,Medizet Stadtisches Klinikum Munich GmbH |
Betten S.,Medizet Stadtisches Klinikum Munich GmbH
Clinical Laboratory | Year: 2014
Background: Further use of reagents, that have not been consumed in total by tests in the laboratory, is of financial and ecological interest. If there are no instructions by the manufacturer, such a procedure must be validated thoroughly. As gelcards of the DiaMed-ID Micro Typing System contain 6 microtubes for immunohematological reactions, sometimes not all of these microtubes are needed at the same time. Methods: Gelcards "NaCl, enzyme test and cold agglutinins" and "Liss/Coombs" were not recentrifuged or 1 to 5 times recentrifuged. Gelcards "DiaClon ABD confirmation for patients" were not recentrifuged or recentrifuged once before being used for testing. Results: The use of gelcards, recentrifuged up to 5 times or recentrifuged 1 time, respectively, before use, provided no false positive or false negative results. Conclusions: Quality assurance of gelcards, that had been centrifuged several times before being used for testing, is an example for economical and safe use of resources in the laboratory.
Mayr J.A.,Paracelsus Medical University |
Freisinger P.,Klinikum |
Schlachter K.,LKH Bregenz |
Rolinski B.,Medizet Stadtisches Klinikum Munich GmbH |
And 7 more authors.
American Journal of Human Genetics | Year: 2011
Thiamine pyrophosphate (TPP) is an essential cofactor of the cytosolic transketolase and of three mitochondrial enzymes involved in the oxidative decarboxylation of either pyruvate, α-ketoglutarate or branched chain amino acids. Thiamine is taken up by specific transporters into the cell and converted to the active TPP by thiamine pyrophosphokinase (TPK) in the cytosol from where it can be transported into mitochondria. Here, we report five individuals from three families presenting with variable degrees of ataxia, psychomotor retardation, progressive dystonia, and lactic acidosis. Investigation of the mitochondrial energy metabolism showed reduced oxidation of pyruvate but normal pyruvate dehydrogenase complex activity in the presence of excess TPP. A reduced concentration of TPP was found in the muscle and blood. Mutation analysis of TPK1 uncovered three missense, one splice-site, and one frameshift mutation resulting in decreased TPK protein levels. © 2011 The American Society of Human Genetics.