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S R Mordekar P Guthrie J R Bonham S E Olpin I Hargreaves P S Baxter 《European journal of paediatric neurology》2006,10(2):78-82
BACKGROUND: Mitochondrial diseases are an important group of neurometabolic disorders in children with varied clinical presentations and diagnosis that can be difficult to confirm. AIM: To report the significance of reduced respiratory chain enzyme (RCE) activity in muscle biopsy samples from children. METHODS: Retrospective odds ratio was used to compare clinical and biochemical features, DNA studies, neuroimaging, and muscle biopsies in 18 children with and 48 without reduced RCE activity. RESULTS: Children with reduced RCE activity were significantly more likely to have consanguineous parents, to present with acute encephalopathy and lactic acidaemia and/or within the first year of life; to have an axonal neuropathy, CSF lactate >4 mmol/l; and/or to have signal change in the basal ganglia. There were positive associations with a maternal family history of possible mitochondrial cytopathy; a presentation with failure to thrive and lactic acidaemia, ragged red fibres, reduced fibroblast fatty acid oxidation and with an abnormal allopurinol loading test. There was no association with ophthalmic abnormalities, deafness, epilepsy or myopathy. CONCLUSION: The association of these clinical, biochemical and radiological features with reduced RCE activity suggests a possible causative link. 相似文献
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Intravenous anaesthesia for cystoscopy: a comparison of propofol or methohexitone with alfentanil 总被引:2,自引:0,他引:2
Sixty out-patients undergoing cystoscopy were allocated randomly into two groups. No premedication was given. Induction of anaesthesia was preceded by intravenous alfentanil 7 micrograms kg-1 given over 20 s, followed by methohexitone 1.5-2 mg kg-1 or propofol 2 mg kg-1, given over 20 s. Anaesthesia was maintained by increments of alfentanil, methohexitone or propofol, given as required. 相似文献
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Six men were studied during 40 min of cycling exercise to examine the relationship between leg glucose uptake and muscle glycogen concentration. Exercise resulted in significant increases in leg glucose uptake, while muscle glycogen and arterial blood glucose concentrations declined. Arterial plasma insulin levels did not change significantly. There was a significant inverse relationship between muscle glycogen concentration and glucose uptake during exercise which suggests a possible regulatory influence of muscle glycogen on glucose uptake in the early stages of exercise in humans. 相似文献
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