Ocular mitochondrial myopathy evolving late in life into a disabling proximal myopathy associated with the mitochondrial DNA 3243 A to G mutation.
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Biomedical subjects
Publications and source records attributed to J A Ghika.
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We evaluated the use of propranolol as an adjunct to carbimazole in the treatment of hyperthyroid tremor and tachycardia in a double-blind, cross-over and placebo-controlled study. Seven patients were given carbimazole plus either placebo or propranolol (40 mg) for 1 month and then switched to the alternative adjunct treatment for a further month. All patients showed significant improvements (p < 0.001) of heart rate and tremor amplitude after 1 or 2 months from baseline. One month after the baseline, the mean improvements of heart rate were 23% for the carbimazole + placebo group and 38% for carbimazole + propranolol group. Tremor also improved during the 1st month of the study by 31% in the carbimazole + placebo group versus 59% in the carbimazole + propranolol group. Whereas further improvements were observed in both variables in those receiving propranolol as the second adjunct treatment, this was not the case in those who received placebo during the same period. These findings confirm that the beta-blocker propranolol is a useful adjunct in the early treatment of both the tremor and tachycardia of hyperthyroidism.
The present pilot study evaluated the effect of botulinum toxin A on primarily non-dystonic tremors using accelerometry in a single-blind, placebo-controlled design. Resting, postural, intention, or head tremor were assessed before and approximately 1 month after intramuscular saline and botulinum toxin A (25-50 U) respectively. Half of the patients showed > or = 30% placebo effect. Tremor in 10 of 17 patients (60%) studied improved further after botulinum toxin A (range 30-95%), exceeding the placebo effect by > or = 30%. Nine patients demonstrated clinically significant focal weakness in the extensor muscles after botulinum toxin A which interfered with fine movements. Patients were subdivided into PD-like and ET-like tremor(s). Both groups experienced large placebo effects for resting tremor, with little or no further improvement after botulinum toxin A. The improvement in postural tremor after botulinum toxin A, of 40% in the PD-like and 57% in the ET-like groups, however, was approximately twice that of placebo. In conclusion, botulinum toxin A exerts a modest tremorlytic effect, however the dose, and its distribution over the sites injected, need to be optimised to minimise focal weakness.
Most reports on small infarcts in the territory of the deep perforators that arise from the internal carotid artery and its branches have focused on the anatomical structures. Recently, it has become possible to map the territories of the deep perforators from the carotid system, based on matching previous anatomical studies with recent data from computed tomographic and magnetic resonance imaging studies. The middle cerebral artery gives origin to two main groups of perforators: the medial and lateral lenticulostriate arteries. Rarely, the thalamotuberal artery may take origin from the middle cerebral artery but much more commonly it originates from the posterior communicating artery. The anterior cerebral artery gives origin to the anterior lenticulostriate arteries and the recurrent artery of Heubner. The anterior choroidal artery takes its origin from the internal carotid artery and exceptionally from the middle cerebral artery. In addition, a small group of perforators comes directly from the internal carotid artery. The anatomical structures supplied by these perforators are described, and a map of the territories is proposed.