52 research outputs found
Nodding syndrome in Tanzania may not be associated with circulating anti-NMDA- and anti-VGKC receptor antibodies or decreased pyridoxal phosphate serum levels-a pilot study
Background: Nodding syndrome (NS) is a seemingly progressive epilepsy disorder of unknown underlying cause. We investigated association of pyridoxal-phosphate serum levels and occurrence of anti-neuronal antibodies against N-methyl-D-aspartate (NMDA) receptor and voltage gated potassium channel (VGKC) complex in NS patients.Methods: Sera of a Tanzanian cohort of epilepsy and NS patients and community controls were tested for the presence of anti-NMDA-receptor and anti-VGKC complex antibodies by indirect immunofluorescence assay. Furthermore pyridoxal-phosphate levels were measured.Results: Auto-antibodies against NMDA receptor or VGKC (LG1 or Caspr2) complex were not detected in sera of patients suffering from NS (n=6), NS plus other seizure types (n=16), primary generalized epilepsy (n=1) and community controls without epilepsy (n=7). Median Pyridoxal-phosphate levels in patients with NS compared to patients with primary generalized seizures and community controls were not significantly different. However, these median pyridoxal-phosphate levels are significantly lower compared to the range considered normal in Europeans.Conclusions: In this pilot study NS was not associated with serum anti-NMDA receptor or anti-VGKC complex antibodies and no association to pyridoxal-phosphate serum levels was found.Key words: nodding syndrome, epilepsy, anti-neuronal antibodies, pyridoxal-phosphat
Three novel fibrinogen mutations (Fibrinogen Innsbruck II, III and IV) causing hypodysfibrinogenemia
[Laboratory assessment of osteoporosis]
Osteoporosis is characterized by a generalized and progredient bone loss, leading to low bone mass and microarchitectural deterioration with subsequent bone fragility. For some percent of the patients at risk, laboratory findings may reveal unsuspected secondary osteoporosis or may influence some aspects of diagnostics and therapy. The aim of the laboratory tests is, therefore, to exclude to a large extent the most important forms of secondary osteoporosis and other potential bone diseases. Among other determinants, increased bone resorption evaluated by specific biochemical markers has been shown to be associated with increased risk of fractures independently of BMD. The combination of bone mass measurement and assessment of bone turnover by biochemical markers are thus helpful in the assessment of osteoporotic fracture risk. Repeated measurements of biochemical markers during treatment appear to improve the management of osteoporotic patients
Azathioprine and 6-mercaptopurine alter the nucleotide balance in endothelial cells
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