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Mitochondrial disorders have the highest incidence among congenital metabolic disorders characterized by biochemical respiratory chain complex deficiencies. It occurs at a rate of 1 in 5,000 births, and has phenotypic and genetic heterogeneity. Mutations in about 1,500 nuclear encoded mitochondrial proteins may cause mitochondrial dysfunction of energy(More)
We report on the clinical, neuropathological, and genetic findings of a Japanese case with myocerebrohepatopathy spectrum (MCHS) disorder due to polymerase gamma (POLG) mutations. A girl manifested poor sucking and failure to thrive since 4 months of age and had frequent vomiting and developmental regression at 5 months of age. She showed significant(More)
This study was conducted to evaluate the effects of physical exercise on blood flow velocity in the ophthalmic artery of healthy men. Color Doppler imaging, which permits rapid noninvasive imaging of the ophthalmic artery, was performed in 11 healthy male adult volunteers to compare pre- and post-exercise measurements of blood flow velocity. After(More)
Ocular perfusion is a critical factor in ischemic ocular diseases, and blood flow in the ophthalmic artery has a pronounced effect on perfusion. To evaluate the effects of dihydropyridine calcium channel blocker and nonselective beta-adrenergic antagonist on ocular perfusion, we investigated the short-term effects of single oral doses of nicardipine (40 mg)(More)
Objective: Timolol is widely used for the topical therapy of glaucoma. Adverse cardiovascular effects include slowing of the heart rate and weakening of myocardial contractility. We investigated pharmacodynamic interactions with respect to cardiovascular and ocular responses between timolol ophthalmic solution and either nicardipine, which does not directly(More)
Non-invasive measurements of blood velocities of the ophthalmic artery (BVA) in color Doppler imaging (CDI) are increasingly used to assess the influence of disease on the hemodynamics of the eye. Such measurements are only valid when compared to spontaneous variability. Therefore, the aim of this study was to examine the variability of BVA in healthy(More)
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