Menadione inhibits MIBG uptake in two neuroendocrine cell lines

In this paper we report on our studies of the effect of menadione on the uptake of MIBG in the neuroendocrine cell lines PC12 and SK-N-SH. Menadione inhibits the uptake of MIBG in both cell lines in a dose-dependent manner. Inhibition of MIBG uptake is most pronounced in the PC12 cell line. Comparison of the inhibitory action of menadione on the uptake and retention of MIBG with that of imipramine and reserpine suggests that menadione inhibits uptake 1 mediated uptake as well as granular storag

Heterozygosity for a point mutation in an invariant splice donor site of dihydropyrimidine dehydrogenase and severe 5-fluorouracil related toxicity

Grayscal

Neonatal cardiomyopathy and lactic acidosis responsive to thiamine

A congestive cardiomyopathy was diagnosed in a girl at the age of 4 weeks. In the weeks following she developed general muscle hypotonia and plasma lactate increased to 8.5 mmol/L. Biochemical investigations of a muscle biopsy at the age of 3 months showed a deficiency in the oxidation of all substrates tested: pyruvate plus malate, 2-ketoglutarate and palmitate plus malate. After freezing and thawing of the homogenate and the addition of essential cofactors, the oxidation of the ketoacids normalized. The oxidation defect in the untreated homogenate can be explained by a deficiency in one of the cofactors (such as thiamine pyrophosphate, NAD+ or CoASH), or by a defect in the oxidative phosphorylation. Treatment with thiamine and carnitine resulted in a decrease in blood lactate to normal levels and a dramatic clinical improvement. Suspension of thiamine caused deterioration of her clinical condition and lactic acidaemia. The thiamine therapy was then continued. The girl is now 6 years old and in perfect health

Two-dimensional electrophoresis of urinary mucopolysaccharides on cellulose acetate after f-cetylpyridiniumchloride (CPC) precipitation: A method suitable for the routine laboratory

A technique for two-dimensional electrophoresis of urinary mucopolysaccharides (MPS) is described. The method allows differentiation of a number of mucopolysaccharidoses and is suitable for application in the routine laboratory. This technique should be used to evaluate urines from patients who have a positive MPS-spot test and/or an increased urinary excretion of MPS-bound uronic acid. Urinary MPS excretion patterns are given from normal individuals, patients with the Sanfilippo syndrome and the Hunter syndrome

Dihydropyrimidinase deficiency, a progressive neurological disorder?

Contains fulltext : 25652___.PDF (publisher's version ) (Open Access