Mitochondrial Intestinal Pseudo-Obstruction with Neurogenic Bladder Syndrome: Point Mutation at T8356C: A New Mitochondrial Disease?

We describe a unique patient with progressive external ophthalmoplegia, intestinal pseudo-obstruction, and neurogenic bladder. Genetic study in this patient shows point mutation at T8356C, the locus known as that of myoclonic epilepsy with ragged-red fibers. To the best of our knowledge, this is the first report of a mitochondrial syndrome consisting of intestinal pseudo-obstruction, neurogenic bladder, and progressive external ophthalmoplegia, point mutation at T8356C. We suggest that this could comprise a new mitochondrial disease rather than a new variant of mitochondrial neurogastrointestinal encephalomyopathy.

Effect of Pentoxifylline on Liver Fibrosis and Cell Cycle Related Proteins in Thioacetamide-Induced Rat Cirrhosis / 대한간학회지

Background: Thioacetamide is a classic hepatotoxic reagent which leads to the reproducible hepatic fibrosis in rats. Thioacetamide-induced fibrosis is an appropriate model for cirrhosis in humans due to the long duration of course and similiar histology. Thioacetamide produces hepatotoxicity through lipid peroxidation but it is unclear whether lipid peroxidation directly correlated with hepatic fibrosis. Pentoxifylline, a derivative of the methylxanthine, showed an antifibrogenic effect in cell cultures of human fibroblasts and some animal models. But this antifibrogenic effect is controversial. Pentoxifylline revealed a hepatoprotective effect in some toxic hepatitis. This hepatoprotective effect seems to influence cell cycle regulatory protein during regeneration. This study aimed to evaluate an effect of pentoxifylline on fibrosis and cell cycle regulatory protein during liver regeneration in thioacetamide-induced rat cirrhosis. Lipid peroxidation assay was compared with collagen content so as to evaluate the correlation with fibrosis. METHOD: Liver cirrhosis was induced by 0.03% oral administration of thioacetamide. Pentoxifylline was administered simultaneously with thioacetamide. The semiquantitative fibrosis index was measured based on histologic finding. Collagen content was estimated by spectrophotometric assay. Activated hepatic stellate cells were counted using alpha-SMA immunohistochemistry. Malondialdehyde, lipid peroxidation metabolite, was estimated by thiobarbituric acid reactive substance assay. Cell cycle regulatory protein was evaluated by western blot. RESULTS: There was no difference in semiquantitative fibrosis index, collagen content and hepatic stellate cell count between thioacetamide treated rats and simultaneous pentoxifylline treated rats. Lipid peroxidation product was not correlated with collagen content. Western blot showed no difference in cell cycle regulatory protein. CONCLUSION: Pentoxifylline does not show an antifibrogenic effect in thioacetamide-induced rat cirrhosis, in which thioacetamide induced hepatocellular damage and fibrosis. Lipid peroxidation may be a secondary effect rather than primary mediating mechanism in hepatic fibrosis.

Disseminated aspergillosis with cutaneous aspergillosis and aspergergillus thyroiditis in a renal allograft recipient / 대한내과학회지

Though advances in immunosuppressive therapy have led to increased survival of renal transplant patients, but increased risk of developing infectious complications. Aspergillosis is a second common opportunistic fungal infection in a renal transplant patient. Lungs, brain and sinuses are the main targets of this fungal infection, but involvement of thyroid gland is rare. We report a case of disseminated aspergillosis with cutaneous aspergillosis and Aspergillus thyroiditis with thyrotoxicosis in a renal allograft patient.