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Biomedical subjects

R Minami

Publications and source records attributed to R Minami.

At least 55 records · Page 3Linked to original sources
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↗
PubMed1985

Characterization of neutral and acidic glycosphingolipids in brains of two patients with GM1 gangliosidosis type 1 and type 2.

Brains of two patients with GM1 gangliosidosis type 1 and type 2, together with the age-matched control brains, were analyzed for glycosphingolipids. Six species of neutral glycolipids, eight species of gangliosides, and sulfatide were isolated from the diseased brains and identified. In addition to GM1 ganglioside and its asialo derivative, the diseased brains accumulated considerable amounts of gangliotriaosylceramide and glycolipids belonging to the globo series, the accumulation of which cannot be explained by deficient beta-galactosidase activity in this disease. GM4 ganglioside was detected in the type 2 brain, but not in type 1. As to fatty acid composition of monohexosylceramides and sulfatide in the two diseased brains, stearic acid was more predominant in the type 1 brain than in the type 2 brain. In light of our previous observations on a Tay-Sachs brain and present results, it appears that metabolism of the globo series glycolipids, which is active in normal brain at early infancy but inactive thereafter, remains in brains with GM1 gangliosidosis (types 1 and 2) and Tay-Sachs disease, reflecting a disturbance in development of the brain.

Brain↗
PubMed1985

Comparative enzymology of eleven acid hydrolases in cultured amniotic fluid cells, skin fibroblasts and embryonic lung fibroblasts, and the respective changes with the increasing age of the cell cultures.

Assay conditions were studied for eleven lysosomal enzymes (beta-D-galactosidase, alpha-D-mannosidase, beta-hexosaminidase, beta-D-glucuronidase, alpha-D-galactosidase, alpha-D-glucosidase, arylsulfatase, beta-D-glucosidase, alpha-L-fucosidase, alpha-D-neuraminidase and alpha-L-iduronidase) in cultured amniotic fluid cells (CAFC), cultured skin fibroblasts (CSF) and cultured embryonic lung fibroblasts (CELF), and the properties of the enzymes were compared among these cultured cells. In addition, changes in these enzymes from the three cell types were investigated between 4-6 earlier passages and 24-26 later passages. With the exception of alpha-D-glucosidase, alpha-D-neuraminidase and alpha-L-fucosidase, all enzymes assayed for the 4-6 earlier passages and the 24-26 later passages had the same Km values and the same pH optima, and were also unchanged with the increasing age of cell cultures, with regard to their points. The specific activities of beta-D-glucuronidase, arylsulfatase, alpha-D-glucosidase and beta-D-glucosidase for the 4-6 earlier passages increased significantly with development, though no change was observed with development in the specific activities of other enzymes. Variations were observed between the levels of these enzymes in the three cell types with the increasing age of cell cultures, such as increases in some, decreases in others and no change in still others.

Amniotic Fluid↗
PubMed1985

Complementation analysis of beta-galactosidase deficiency by means of histochemical method.

Cultured skin fibroblasts from 4 beta-galactosidase-deficient patients with different clinical features were hybridized and beta-galactosidase activities were measured using 4-methylumbelliferyl (4MU)-derivate and by means of indigogenic method. Compared with the assays of beta-galactosidase activity using 4MU-derivate, more clear-cut evidence was obtained in the indigogenic method for a judgement of complementation.

Cells, Cultured↗
PubMed1985

Diagnosis of adrenoleukodystrophy using dried blood spots.

We have demonstrated the increased C26:0/C22:0 ratio in the fatty acids of sphingolipid fraction in dried blood spots on filter paper from the patient with adrenoleukodystrophy. The ratio of C26:0/C22:0 in the dried blood spots from the patient was 2.1-fold higher than those of the normal controls. This value was almost the same as the ratio in erythrocyte membrane sphingomyelin from the patient, because sphingolipid fraction in the dried blood spots consists of mainly the sphingomyelin from erythrocyte membranes. Blood samples are easy to obtain by mail and the method is useful in the diagnosis of the patient and screening for the families known to be at risk.

Adrenoleukodystrophy↗
PubMed1984

Heparan sulfate and dermatan sulfate from the liver of a patient with Hurler syndrome: high performance liquid chromatography of their degradation products after incubation with alpha-L-iduronidase-deficient fibroblasts.

Using a high performance liquid chromatography method, degradation products of heparan sulfate (HS) and dermatan sulfate (DS) were investigated after incubation of control and alpha-L-iduronidase-deficient fibroblasts with HS or DS. Characteristic elution profiles of the degradation products were obtained from the respective alpha-L-iduronidase-deficient fibroblasts. Moreover, alpha-L-iduronidase in control fibroblasts was resolved into two distinct components, forms A and B, on DEAE-cellulose column chromatography. Form A alpha-L-iduronidase could degrade HS, but not DS. Conversely, form B alpha-L-iduronidase could not degrade HS, but could degrade DS.

Chondroitin↗
PubMed1984

Properties of alpha-L-iduronidase in cultured skin fibroblasts from alpha-L-iduronidase-deficient patients.

On DEAE cellulose column chromatography, alpha-L-iduronidase in cultured skin fibroblasts was resolved into two distinct components, forms A and B. They had similar Km values for 4-methylumbelliferyl-alpha-L-iduronide, but differed in pH optima and thermal stability. Form B was more heat-stable than form A. Residual alpha-L-iduronidase activity in Hurler fibroblasts was heat-stable, while that in Scheie fibroblasts was heat-labile, and moreover, that in Hurler-Scheie compound fibroblasts lay intermediate between Hurler and Scheie syndromes. These findings demonstrated that Hurler syndrome, Scheie syndrome and Hurler-Scheie compound were enzymatically distinguishable.

Cells, Cultured↗
PubMed1984

Two cases of congenital hypomyelination neuropathy.

The clinical features and findings in biopsied sural nerves of two cases of congenital hypomyelination neuropathy were reported. Case 1 had slightly retarded motor milestones without evidence of respiratory distress during the neonatal period. Case 2 had difficulty in swallowing and respiration after birth and severely delayed motor milestones. The sural nerve, on light microscopy, revealed reduced density of myelinated fibers in the two cases. Electron microscopy disclosed hypomyelination without evidence of active demyelination or axonal changes in the two cases. Onion-bulbs were composed of concentric whorls of Schwann cell process surrounding particularly small myelinated fibers in case 1 and of concentric lamellae, mainly consisting of two parallel layers of basement membrane, in case 2. Congenital hypomyelination neuropathy shows variability of clinical features such as in our two cases. We suspected that there was gradation of severity both in clinical expression and in the disorder of Schwann cells.

Child↗
PubMed1983

The polypeptide of a human calicivirus.

Viral particles morphologically resembling animals caliciviruses in the faeces of a patient with acute gastroenteritis were purified, radiolabeled with [125I], and analyzed by SDS-PAGE. A single major structural protein with a mol. mass 62,000 daltons was identified by immunoprecipitation technique. The finding is consistent with human calicivirus-like particles associated with gastroenteritis being a member of the family Caliciviridae.

Caliciviridae↗