نتایج جستجو برای: hepatolenticular degeneration
تعداد نتایج: 62136 فیلتر نتایج به سال:
The authors describe unusual MR findings in three patients with Wilson disease, eg, white matter changes in the base of the pons, and speculate whether the changes are caused by Wilson disease or by concomitant disease, and whether the pontine lesions they observed are primary or related to lesions located more rostrally.
PURPOSE To study the tomographic features of pellucid-like keratoconus (PLK), and to report a new sign on the pachymetry map (PM) in pellucid marginal degeneration (PMD). PATIENTS AND METHODS A retrospective descriptive case series was performed in Damascus University in 2011. Clinical and tomographic findings of 15 eyes (9 patients) that had the claw pattern of the anterior sagital map (ASM)...
Several papers have reported severe liver disease in association with massive hepatic copper accumulation, which do not seem to be either of the recognised copper associated liver diseases, namely Wilson's disease and Indian childhood cirrhosis. A further case is reported in which novel copper kinetic studies were carried out using the stable isotope 65Cu, showing that this patient did not suff...
West Nile virus (WNV) transmission has been confirmed in the last four years in Europe and in the Mediterranean Basin. An increasing concern towards West Nile disease (WND) has been observed due to the high number of human and animal cases reported in these areas confirming the importance of this zoonosis. A new epidemiological scenario is currently emerging: although new introductions of the v...
Here we describe a case of a 22-year-old woman who presented with acute liver failure and Kayser-Fleischer rings suggesting the diagnosis of Wilson's disease.
Tetrathiomolybdate (TTM) avidly interacts with copper and has recently been employed to reduce excess copper in patients with Wilson disease. We found that TTM inhibits the purified Enterococcus hirae CopB copper ATPase with an IC(50) of 34 nM. Dithiomolybdate and trithiomolybdate, which commonly contaminate TTM, inhibited the copper ATPases with similar potency. Inhibition could be reversed by...
The intention of this analysis was to identify patients with treated Wilson disease (WD) and residual neurological symptoms in order to determine whether or not they were undergoing any treatment in addition to the common decoppering medication. Moreover, the effects of any symptomatic medication were analyzed. Two samples of WD patients were investigated either by a mailed questionnaire survey...
The overhand shuffle is one of the “real” card shuffling methods in the sense that some people actually use it to mix a deck of cards. A mathematical model was constructed and analyzed by Pemantle [5] who showed that the mixing time with respect to variation distance is at least of order n2 and at most of order n2 log n. In this paper we use an extension of a lemma of Wilson [7] to establish a ...
Published algorithms[2] cost (apparently) hundreds of times as much as the usual clover action. I describe an approach which costs about a factor of 6.5×(N+1) as much as the clover action for an Nth order approximation, and even N = 1 looks quite promising. The ideas in this work are based on three remarkable formulas first published by Neuberger[3]: Introducing a zeroth-order Dirac operator D0...
Wilson's Disease (WD) is a rare, autosomal, recessive, inborn error of the copper metabolism, which is caused by a mutation in the copper-transporting gene, ATP7B. The presentation is usually neurologic or hepatic, which is seen in 40% of the patients. The diagnosis depends primarily on the clinical features, the biochemical parameters and the presence of the Kayser - Fleischer ring. Here, we a...
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