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R Minami

Publications and source records attributed to R Minami.

At least 91 records · Page 5Linked to original sources
PubMed1989

[A case of epilepsy with myoclonoic absences].

A case of epilepsy with myoclonic absences is reported. A boy, 3 years and 8 months old, had the first attack at the age of 1 year and 8 months. He was mentally retarded, but had no evidence of organic brain damages. He had been said to have "absence" at another hospital for 2 years until he was referred to our hospital. The attack was characterized clinically by sudden loss of consciousness accompanied with rhythmical massive myoclonias. The ictal EEGs showed synchronous diffuse 3 c/s spike-wave discharges. There was a strict and constant relation between spike-wave discharges and the myoclonia. The polygraphy recording (EEG and EMG of various muscles) was very helpful for the diagnosis of epilepsy with myoclonic absences. We think that epilepsy with myoclonic absences should be considered in any case of "absence" with concomitant 3 c/s spike-wave discharges which is resistant to appropriate treatment, or is accompanied with mental retardation.

Child, Preschool↗
PubMed1988

Electron microscopic study of the biopsied cardiac muscle in Duchenne muscular dystrophy.

Cardiac muscular biopsies were performed on 4 patients with Duchenne muscular dystrophy (DMD). None of the patients had cardiac symptoms and all of them exhibited normal electro- and echocardiographic findings. Electron microscopic examination of cardiac muscles from 4 patients with DMD disclosed proliferation of the mitochondria, changes in the cristae, abnormalities of the Z-bands, dilatation of the sarcoplasmic reticulum, deposition of glycogen, and changes in the nuclei. The most striking finding in these patients was that the residual bodies were increased and were observed mainly in the perinuclear region. These ultrastructural features suggest that an extreme exhaustion had already been present in myocardial tissue of the patients prior to the onset of cardiac symptoms.

Adolescent↗
PubMed1988

Peripheral neuropathy in four cases of group A xeroderma pigmentosum.

We describe the clinical features and findings of biopsied sural nerves of 4 cases of xeroderma pigmentosum. Nine genetic forms of xeroderma pigmentosum have been reported by complementation studies. These four cases were diagnosed as Group A xeroderma pigmentosum by complementation studies using cultured skin fibroblasts. All cases had delayed mental and motor development in areas such as head control over 4 months of age and walking without support over 18 months of age. Three cases had the gradual onset of a gait disturbance between 6 and 9 years of age. Motor conduction velocity and sensory conduction velocity of the ulnar nerve were slightly delayed. The sural nerve of the slightly impaired patient showed a normal density of myelinated fibers, but a selective reduction of the large myelinated fibers with zebra-body-like structures in Schwann cell cytoplasm. The population density of all nerve fibers was severely diminished in the severely impaired cases. Ultrastructural observation disclosed many denervated Schwann cells and pockets of collagen isolated by loops of denervated Schwann cell cytoplasm. These findings suggest that the degenerative process in peripheral nerves of xeroderma pigmentosum is axonal. Peripheral neuropathy in Group A xeroderma pigmentosum resembles that of patients with ataxia telangiectasia who are known to have a defect in the repair mechanisms of their DNA in cultured skin fibroblasts.

Adolescent↗
PubMed1987

Characterization of neutral glycosphingolipids from fetal human brain: evidence for stage-specific expression of the globo, ganglio, and neolacto series in the central nervous system.

Neutral glycosphingolipids were isolated from normal human fetal brains, at 22 to 23 weeks gestation. They were identified as monohexosylceramides, lactosylceramide, and glycolipids belonging to the globo (globotriaosylceramide) and ganglio (gangliotriaosylceramide) series. In addition, considerable amounts of neolactotetraosylceramide and III3-alpha-fucosyl-neolactotetraosylceramide were detected. Although neutral glycolipids of the globo, ganglio, and neolacto series have been demonstrated in the brains of cases with some sphingolipidoses, they are not present in appreciable amounts in differentiated normal brain. Therefore, the present and previous observations would imply that the metabolism of these glycolipid series actively occurs in the normal brain at an early stage of differentiation and continues thereafter in the brain in the case of some sphingolipidoses. The diseased brain is most probably accompanied by a disturbance of differentiation.

Antibodies, Monoclonal↗
PubMed1986

A case of brainstem encephalitis with CT scan abnormality mimicking Fisher syndrome.

A 7-year-old boy with brainstem encephalitis is described. He was drowsy in the acute phase. CSF showed pleocytosis without elevated protein. EEG showed diffuse slow wave activity during wakefulness. CT scan disclosed a low density abnormality in the basal ganglia area, which disappeared as the patient recovered. The clinical signs, CT scan abnormality and EEG findings suggest that this case is not a variant of the Guillain-Barré syndrome but is brainstem encephalitis mimicking Fisher syndrome.

Ataxia↗
PubMed1985

A case of childhood multiple sclerosis with peripheral neuropathy.

A twelve-year-old girl with multiple sclerosis and peripheral neuropathy is reported. When nine years old, she was diagnosed as having Devic disease (optic atrophy and transverse myelitis). During the three years after onset of her illness, she suffered from three relapses and remissions of her multiple sclerosis. On the third occasion, neurological examination revealed signs of cerebellar dysfunction including ataxic gait, nystagmus and dysmetria, and absence of all tendon reflexes with muscle weakness especially on the left side. Markedly slowed conduction velocity in her ulnar nerve especially on the left and elevated CSF protein were noted. Biopsied sural nerve showed decreased density of myelinated fibers and a selective loss of large diameter fibers. Electron microscopy disclosed onion-bulb formation, myelin debris within Schwann cell cytoplasm and demyelinated axons. These findings showed demyelination and remyelination of the peripheral nervous system in this patient with multiple sclerosis. We discuss the relation of multiple sclerosis and peripheral neuropathy.

Biopsy↗
PubMed1985

Serum concentration of unsaturated thyroxine-binding globulin in hyper- and hypothyroidism.

The concentration of serum thyroxine (T4)-binding globulin (TBG) not binding T4 (unsaturated TBG, u-TBG) was determined in hyper- and hypothyroidism. u-TBG was expressed as the product of TBG concentration and the ratio of free TBG capacity to maximal TBG capacity as determined by reverse-flow electrophoresis. u-TBG concentration in normal sera (n = 40) was 15.5 +/- 2.3 mg/l (mean +/- SD), or 257 +/- 38 nmol/l for a molecular weight of TBG of 60 000 daltons. u-TBG levels were significantly lower in hyperthyroidism (7.1 +/- 2.3 mg/l, n = 16, P less than 0.001) and higher in hypothyroidism (21.7 +/- 5.0 mg/l, n = 22, P less than 0.001). Based on partial correlation analysis, u-TBG was inversely correlated to serum T4 (r = -0.586, P less than 0.001), but not correlated to triiodothyronine (T3) (r=-0.180, NS). There was a reciprocal correlation between u-TBG concentration and the T3 uptake value (r = 0.748, P less than 0.001). There was also a reciprocal correlation of u-TBG with both % free T4 (r = 0.425, P less than 0.001) and % free T3 (r = 0.377, P less than 0.001), when the data were subjected to partial correlation analysis. These results provide the values for u-TBG concentration in hyper- and hypothyroidism, and support the concept that the free fractions of serum thyroid hormones may be determined by the number of binding sites of the TBG molecule that are not saturated with T4 in hyper-and hypothyroidism.

Adult↗