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Biomedical subjects

N Fukuhara

Publications and source records attributed to N Fukuhara.

At least 91 records · Page 5Linked to original sources
PubMed1985

Morphological studies of peripheral nerves and skeletal muscles of an adult case with adrenoleukomyeloneuropathy.

A 53-year-old patient with adrenoleukomyeloneuropathy, showing symptoms of mental deterioration, cerebellar ataxia, spastic tetraparesis, and polyneuropathy, was reported. The myelinated fiber densities were decreased in the anterior spinal root and sciatic nerve. Most of the myelinated fibers showed segmental demyelination and a few fibers showed axonal degeneration. Electron microscopy showed numerous lipid inclusions in the cytoplasm of the Schwann cells. The muscles showed neurogenic changes. Numerous lipid bodies and intracytoplasmic crystalline arrays were found in the sarcolemma.

Adrenoleukodystrophy↗
PubMed1984

Adrenoleukodystrophy: a clinical variant presenting as olivopontocerebellar atrophy.

A case of adrenoleukodystrophy showing neurological features of olivopontocerebellar atrophy is described. A CT scan demonstrated marked atrophy in both cerebellum and pons. ACTH stimulation produced no rise in the plasma cortisol level but a significant rise in the plasma aldosterone level. The ratios of C26:0 to C22:0 in fatty acids of sphingomyelin from erythrocyte membrane and plasma were increased.

Adrenocorticotropic Hormone↗
PubMed1984

[An electrophoretic study of the muscle proteins in nemaline myopathy: a new method using type-defined freeze-dried sections].

The characteristic features observed in the muscle fibers of nemaline myopathy are the presence of rods mainly in type I fibers, and the predominance and atrophy of type I fibers. In order to detect the abnormal proteins in the rods and clarify whether type I or II fibers have abnormal structural protein, we examined proteins in the muscles of patients with nemaline myopathy by one and two-dimensional gel electrophoresis (2-D). These freshly frozen muscles were cut to 20 microns thick and freeze-dried. Pieces were chosen and teased under a dissecting microscope with reference to the stained specimens of the same part, and electrophoresed. At first, we examined the proteins of the type I and II fibers in normal and type grouping fibers of patients with motor neuron disease by SDS gel electrophoresis and found no abnormality of the protein pattern in this disease. Then we examined each of the following fibers of the nemaline muscle; type I fibers with many rods and type II fibers with no rods. Each of the electrophoresed gel patterns of the nemaline muscle was compared with those of grouping type I and II fibers. The SDS gel electrophoresis showed and increase of the intensity of 55 K band in nemaline myopathy, especially in type I fibers with rods, which was thought as desmin. In 2-D, the pattern of type I fibers with rods were identical to that of the grouping type I fibers except the 55 K spot which showed a slow form of tropomyosin alpha-subunit (TM-alpha), troponin-C (TN-C) and myosin light chains (LC) although both contained small amounts of fast form LC2 and LC3.(ABSTRACT TRUNCATED AT 250 WORDS)

Adolescent↗
PubMed1983

[Electrophoresis of proteins of muscle fibers with rimmed vacuoles].

This is the first report on the analysis of the proteins in the single muscle fibers with rimmed vacuoles. A new method was developed to analyse single muscle fibers which had been histologically characterized in the freeze-dried sections of muscles. Muscle biopsy was performed in three patients with distal myopathy and one patient with Kearns-Sayre-like syndrome associated with rimmed vacuoles (Table 1). Ten (30 micron thick) frozen serial sections were dried according to Lowry and Passonneau, and further five consecutive sections were cut and stained with usual histochemical methods including Gomori trichrome and NADH-TR staining. Each muscle fiber in the freeze-dried sections could be identified with the corresponding one in the stained sections, and it was possible to determine whether the fiber had rimmed vacuoles or not (Fig. 2). Particular fibers were identified in the consecutive freeze-dried sections and cut out from three sections with no contamination of the interstitial tissue, and they were subjected to SDS gel electrophoresis. Resultant gel patterns showed substantial increase of 55 k dalton band, the extent of which was much more larger in that of the fiber with rimmed vacuoles than that without vacuoles (Fig. 3). This feature was common to all of the gels from four patients. A portion containing a number of muscle fibers of a freeze-dried section from each of the four patients and the two controls was subjected to two-dimensional gel electrophoresis (2-D). Of 55 k dalton proteins, three spots around the isoelectric point of alpha-actin were found to be increased (Fig. 4).(ABSTRACT TRUNCATED AT 250 WORDS)

Adult↗
PubMed1982

Distal myopathy: histochemical and ultrastructural studies.

In three familial cases and one sporadic case of late-onset distal myopathy, muscle wasting started in the distal portions of the lower extremities. The most striking change seen by light microscopy was the appearance of rimmed vacuoles. These were presumed to be autophagic, because they were found by electron microscopy to contain membranous lamellar structures and other heterogenous materials enclosed by a limiting membrane. On the other hand, lysosomal activity was markedly increased in skeletal muscle. In 6% to 22% of affected muscle fibers there were acid phosphatase-positive granules deep in the sarcoplasm, whereas control muscles had no such granules. The degenerative process in distal myopathy may be different from that in other muscular dystrophies.

Acid Phosphatase↗
PubMed1982

The peripheral neuropathy in De Sanctis-Cacchione syndrome. Histological, ultrastructural, and morphometric studies.

Histological, ultrastructural, and morphometric studies were performed on nerve and muscle biopsies from three patients with de Sanctis-Cacchione syndrome. Sural nerves showed marked loss of the myelinated fibers, in proportion to decrease in nerve conduction velocities and in inverse proportion to the severity of the clinical symptoms, which were related to the survival length. The larger fibers were involved earlier and more markedly than the smaller. The unmyelinated fibers were also decreased in number. Electron-microscopic studies showed the presence of primary degeneration of myelin sheaths or Schwann cells. Muscle biopsies showed grouping of type I and type II fibers in all three patients. Therefore, peripheral nerve involvement in de Sanctis-Cacchione syndrome was suggested to result from chronic degeneration of the neuronal cells and Schwann cells.

Adolescent↗
PubMed1982

Oculopharyngeal muscular dystrophy and distal myopathy. Intrafamilial difference in the onset and distribution of muscular involvement.

A family is reported which included a patient with a variant form of oculopharyngeal muscular dystrophy. The patient's son suffered from infantile muscular dystrophy with a distal distribution in the lower extremities and no oculopharyngeal symptoms. Case 1, the father, showed blepharoptosis, but no limitation of ocular movements. Case 2, the son, showed early onset of weakness and more rapid progression of muscle involvement than the father. In both patients EMG, muscle biopsies and elevated serum CPK indicated the myopathic nature of the disorder. A muscle biopsy specimen in Case 2 showed abundant rimmed vacuoles and abnormal filaments 13-19 nm in diameter in the sarcoplasm, usually reported to occur in inclusion body myositis. The findings indicate that oculopharyngeal muscular dystrophy and distal myopathy are related in their etiology and distal myopathy and inclusion body myositis are regarded as variant forms of the same disease.

Adult↗
PubMed1981

A new myopathy with tubulomembranous inclusions.

A muscle biopsy performed on a 16-year-old boy with progressive myopathy revealed hitherto unrecognized peculiar inclusions which consisted of 3 types of structures. The first type consisted of laminated tubulomembranous structures and most of the inclusions belonged to this type. The lamellae were regularly spaced with a periodicity of 8.5--9 nm and curving a little, and were observed as concentric lamellae according to the plane of sectioning. The second type of inclusions consisted of curvifilamentous material. The third type had the appearance of moderately electron-dense granular material surrounded by a single unit membrane. The origin and nature of these inclusions is obscure, but the diagnosis of some kind of storage myopathy was suspected in this case.

Adolescent↗
PubMed1980

Rimmed vacuoles.

Rimmed vacuoles (Dubowitz and Brooke 1973) have been found in 12 cases with various neuromuscular diseases and are considered to be autophagic in nature. They consisted of multilaminated membranous structures accompanied by glycogen granules, dense bodies, and amorphous, granular, and fibrillar material. The contents of the vacuoles were regarded as having partially dissolved out of the vacuoles in cryostat sections but some were plastered along the walls of the vacuoles and were depicted by the staining procedures for light microscopy. The "lined vacuoles" described by Carpenter et al. (1978) in inclusion body myositis closely agree with the rimmed vacuoles in respect of histochemical and ultrastructural features.

Adolescent↗
PubMed1980

Myoclonus epilepsy associated with ragged-red fibres (mitochondrial abnormalities ): disease entity or a syndrome? Light-and electron-microscopic studies of two cases and review of literature.

A report is given of an association of dyssynergia cerebellaris myoclonica associated with Friedreich's ataxia and mitochondrial myopathy in 2 patients. They had suffered from gradually increasing bursts of myoclonus since the wage of 14 and childhood, respectively. The other striking clinical features included generalized convulsions, mental deterioration, intention tremor, ataxia, muscular atrophy and deformity of feet. Muscle biopsies revealed ragged-red fibres in both cases. On electron microscopy these fibres contained subsarcolemnal aggregations of abundant abnormal mitochondria with proliferation of inner membranes or paracrystalline inclusions. One of these patients showed elevated blood lactate and pyruvate with an increased lactate/pyruvate ration, apparently of primary origin. These 2 cases resemble those reported briefly by Tsairis et al. (1974). An association of dyssynergia cerebellaris myoclonica associated with Friedreich's ataxia and mitochondrial myopathy in these 2 patients is unlikely to be coincidental but may represent one nosological entity. This myoclonus epilepsy syndrome associated with ragged-red fibres is compared with other possibly related mitochondrial encephalomyopathies.

Adult↗