Biomedical subjects
Publications and source records attributed to H Umezaki.
Asterixis at the hip joints can be elicited by a simple diagnostic maneuver in which the hips are passively flexed and abducted about 60 to 90 degrees between the thighs. The test evoked asterixis in 8 of 10 patients who were stuporous or semicomatose because of hepatic encephalopathy. The asterixis seems to be provoked by the involuntary contraction of hip adductors against gravity.
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We studied a patient with somatic growth failure with easy fatigability, myopathy with mitochondrial abnormality, increased lactate and pyruvate in blood and CSF, mental retardation, seizure, myoclonus, deafness, cerebellar ataxia, and blindness with macular degeneration and optic atrophy. Pathologic findings included multiple brain infarctions and massive calcification in the basal ganglia. Biochemical studies of isolated mitochondria revealed decreased oxygen consumption in skeletal muscle, diaphragm, and brain, suggesting an abnormality in the respiratory chain.
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An adult case of mucolipidosis with beta-galactosidase and neuraminidase deficiencies is reported. The patient was a 35-year-old Japanese female with coarse face, lumbar vertebral beaking, action myoclonus, cerebellar ataxia, clouding of the cornea, macular cherry-red spots, hearing loss and vacuolated lymphocytes, but without mucopolysacchariduria. Her clinical symptoms developed at a late age with a slow progression. The enzyme activities of beta-galactosidase were deficient in leukocytes and cultured skin fibroblasts but normal in serum. Sialic acid-rich glycopeptides and oligosaccharides were increased in the urine. Neuraminidase activities toward fetuin, alpha-N-acetylneuraminosyl-(2 leads to 3) lactose and alpha-N-acetylneuraminosyl-(2 leads to 6) lactose were deficient in cultured fibroblasts. It is suggested that the main disturbance in the present case might be the catabolic process of glycoproteins and oligosaccharides due to neuraminidase deficiency.
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Transient monocular blindness in the patient with polycythemia vera has generally been considered to be caused by retinal arteriospasm. In the present case with complaints of frequent monocular blindness, ophthalmoscopic observation and serial photographs of the ocular fundus were made. During these acute attacks, microembolic phenomena were noticed in the retinal arteries. Laboratory examination showed abnormal platelet aggregability, increased platelet adhesiveness and a significantly decreased platelet count during attacks. It is suggested that transient monocular blindness is caused by platelet emboli. The cause of intermittent cerebral ischemic attacks in the patient with polycythemia vera is probably platelet emboli.
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The correlation between the appearance of the characteristic electroencephalographic abnormality, cardinal clinical manifestations, and neuropathological features was studied in four cases of Creutzfeldt-Jakob syndrome consisting of subacute spongiform encephalopathy and classical Creutzfeldt-Jakob disease. Consideration is given to the differences in the electroencephalographic findings between these two subgroups of the syndrome and on the underlying pathological mechanism.
A 14 year old boy was diagnosed as suffering from type 1 muscle fibre hypotrophy with internal nuclei. On histological examination of a biopsied muscle, there was selective hypotrophy of type 1 muscle fibre with internal nuclei, and focal degenerative changes were seen in a few type 1 fibres. The small type 1 fibres were arranged in small or large groups in one bundle. An EMG study of moderately weak muscles revealed low amplitude and short duration motor unit potentials as well as normal potentials and no spontaneous discharges. The H reflexes were abnormally low in amplitude comapred with the M response. The histological and electrophysiological findings suggested that the type 1 fibre involvement in the present case may have a neurogenic basis. It is likely that the clinical features of the reported cases are too variable for a single clinical entity.