[Impairment of the motor endplate].
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Biomedical subjects
Publications and source records attributed to A Igata.
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We observed two sisters with lupus-like syndrome with homozygous C3 deficiencies. A 19-year-old woman and her 15-year-old sister developed malar rash, arthralgia, and photosensitivity, but antinuclear antibodies and LE cell preparations were negative. The older sister experienced recurrent bronchitis in her childhood, but the younger sister had no recurrent infections. Serum C3 was not detected immunochemically in either sister, and total complement activity and C3 hemolytic activity were extremely low.
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A 39 years old man with severe action myoclonus and epileptic seizure was reported. He had been in good health and worked as an occupational diver until August 16, 1966, when he had to dive into the sea bottom about 35 m deep without diving equipment. After finishing his work, he fell into unconsciousness and drowned. Sometime later, he was rescued and treated as decompression sickness. When he became alert, severe action myoclonus and epileptic seizure appeared. 8 years later, he was admitted to our hospital for rehabilitation. The danger of diving without equipment was indicated, because in sea bottom alveolar oxygen pressure (Pao2) is about 450 mmHg and alveolar air pressure 4.5 atmospheric pressure. In this condition patient could hold his breath longer time than in sea surface. When he finished his work and floated with muscle relaxing, however, his blood supply to the brain decreased. It was thought, therefore, that he fell into unconsciousness and drowned. In somatosensory evoked potentials (SEP) by median nerve stimulation, giat patterns were recognized but there were differences between SEP of myoclonus epilepsy and that of this patient. P50 and N70-80 were giant in him, suggesting that he had a brain stem disturbance. Since the inhibition system of fast conducted fiber did not work well in this state, the component of slow conducted fiber was magnified. Action myoclonus may be due to the disturbance of inhibition system in the brain stem.
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In recent years, many cases of beriberi have been reported throughout Japan. One may assume that a great many healthy subjects suffer from a subclinical thiamine deficiency. The present study was carried out in order to examine thiamine status in 21 beriberi patients and 674 apparently normal subjects. In the beriberi patients the total vitamin B1 in whole blood and transketolase activity in the hemolysate were significantly lower, and the thiamine pyrophosphate effect was significantly higher, compared to normal subjects. However, these two groups could not be clearly separated by these biochemical parameters because of significant overlap. On analyzing the results of these biochemical parameters by discriminant analysis, beriberi could be diagnosed with an accuracy of 87,7%. Thus, vitamin B1 levels in blood, transketolase activity and the thiamine pyrophosphate effect in the hemolysate are useful biochemical indices for the diagnosis of beriberi. Above all, the thiamine pyrophosphate effect proved to be the most effective parameter in distinguishing the beriberi group from normal subjects.
We performed a study concerning the activity of erythrocyte transketolase and thiamine metabolism in 73 uremic patients with or without neuropathy and 67 normal control subjects. Although the total vitamin B1 level in whole blood was high in the uremic patients, the transketolase activity in the hemolysate and the thiamine pyrophosphate effect on it were lower than those of normal subjects. The values of the transketolase activity of the two groups were statistically correlated with the levels of the thiamine pyrophosphate effect and the vitamin B1 content of the blood. Inhibition of transketolase activity was apparent in the uremic patients. However, this inhibition did not seem to be the only cause for the development of uremic neuropathy since no significant difference in these activities was observed among uremic patients with and without neuropathy. Moreover, a direct correlation could not be confirmed between transketolase activity and motor nerve conduction velocity.
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A case of nemaline myopathy with ophthalmoplegia is reported. The patient was a 35-year-old man born of consanguineous parents. He had a myopathic face, high-arched palate, nasal voice, scoliosis, very thin trunk and marked muscle weakness involving face, neck, limbs and trunk. He also had ptotis of the left eyelid and mild bilateral ophthalmoplegia, also detected by electrooculogram. Biopsy of gastrocnemius muscle revealed nemaline rods. At the ultrastructural level, the rods appeared to have axial and cross striations, and in cross-sections at high magnification they seemed to have a crystal lattice structure. Intranuclear rods were also observed. In addition to the rods, abnormal mitochondria including a number of paracrystalline inclusions were seen.
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