[Central core disease--the course of muscle pathology].
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Child↗
Biomedical subjects
R Minami
Publications and source records attributed to R Minami.
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↗
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↗
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↗
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↗
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↗
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↗
[Hereditary motor and sensory neuropathy type I in early childhood. Clinical features and the findings of nerve pathology].
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Charcot-Marie-Tooth Disease↗
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↗
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↗
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↗
[A case of multiple sulfatase deficiency with fiber type disproportion].
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Arylsulfatases↗
[Cases of multiple sulfatase deficiency in sisters--biopsy findings of the sural nerve].
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Child↗
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↗
Activities of sulfatases for the degradation of acidic glycosaminoglycans in cultured skin fibroblasts from two siblings with multiple sulfatase deficiency.
Cultured skin fibroblasts from two siblings with multiple sulfatase deficiency (MSD) were assayed for the activities of sulfatases known to degrade acidic glycosaminoglycans (AGAG). There were iduronate sulfatase, arylsulfatase B, heparan sulfate (HS) sulfatase, N-acetylgalactosamine-6-sulfate sulfatase, HS-derived N-acetylglucosamine-6-sulfate sulfatase, and two keratan sulfate (KS)-derived N-acetylglucosamine-6-sulfate sulfatases. The activities of sulfatases required for the degradation of HS were reduced to a greater extent than those for the degradation of dermatan sulfate (DS), and those of sulfatases associated with basic defect of Morquio disease type A were moderately decreased or normal. On the other hand, urinary excretion of AGAG in both patients was increased about 10-fold compared to controls, and especially, the excretion of HS and DS was increased about 150-fold and 50-fold, respectively. Keratan sulfate was not detected. The results suggest that in patients with MSD the degradation of HS might be affected to a greater extent than that of DS.
Cells, Cultured↗
Characterization of keratan sulfate isolated from liver affected by Morquio syndrome.
Chemical structures of keratan sulfate (KS) isolated from the liver affected by Morquio syndrome type A (classical type) were investigated. In the KS from Morquio syndrome liver, the molar ratios of hexose, total sulfate, N-sulfate and sialic acid to hexosamine were 5.07, 0.90, 0.18 and 0.08, respectively, and about 10% of hexosamine consisted of galactosamine. The KS resulted in a production of oligosaccharides of relatively larger size after digestion with keratanase, as compared with bovine corneal KS. These findings strongly suggest that KS accumulated in the liver affected by Morquio syndrome may be derived from bony KS.
Animals↗
[On the blood pressure control function during sitting position].
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Blood Pressure↗
A case of type 2 Gm1-gangliosidosis with long survival.
An 11-year-old boy with type 2 GM1-gangliosidosis was presented, providing further evidence for the clinical and biochemical heterogeneity of the disease. The patient had several characteristics of type 2 GM1-gangliosidosis, but was different from so-called typical type 2 GM1-gangliosidosis from the point of view of survival and the degree of GM1-ganglioside accumulation. GM1-gangliosidosis was diagnosed by absence of beta-galactosidase activity in leukocytes and the parents had the enzyme levels of heterozygotes. However, the amount of the brain GM1-ganglioside was accumulated to a less degree in comparison with that of typical type 2 GM1-gangliosidosis, though the activity of GM1-beta-galactosidase in the brain was deficient to the same degree as in the typical case.
Child↗