[Muscular dystrophy in a girl with an X-autosome translocation].
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Child↗
Biomedical subjects
I Nonaka
Publications and source records attributed to I Nonaka.
[An autopsy case of lung cancer in a young adult dwarf].
A 31-year-old man with peripheral squamous cell carcinoma is reported. By nature he was very small. On admission he was 140 cm tall, weighed 28 kg, and was complaining of chest pain of five years duration. A giant tumor in the right lung was found to be moderately differentiated squamous cell carcinoma. He also had congenital anomalies, such as crossed ectopic kidney with fusion, café-au-lait spots, inguinal hernia, simian line, etc. He had never been exposed to cancer-causing agents. In conclusion, genetic factors related to intrauterine growth retardation might have been linked to his oncodevelopmental mechanisms.
Adult↗
Astrocyte growth enhanced by culture supernatant of a cloned rat thymic myoid cell.
A conditioned medium (CM) from a cloned rat thymic myoid cell (IT-45R92) was used to investigate a possible relationship between the thymus and brain. CM stimulated the DNA synthesis of the cultured perinatal rat brain cells and spleen myelo-lymphoid cells but not that of the other types of cells including dorsal root ganglia, spinal cord, heart muscle, skeletal muscle, kidney, liver, skin, and thymic fibroblasts. CM appeared to stimulate glioblasts to differentiate into mature astrocytes that have a characteristic intracellular fibrous structure and a glial fibrillary acidic protein. These results indicated that thymic myoid cells release (a) 'cytokine(s)' for the astrocytes and myelo-lymphoid cells, similar to a 'lymphokine' (glia cell stimulating factor, GSF) produced by murine and human lymphocytes stimulated with mitogens.
Animals↗
Autosomal recessive distal muscular dystrophy: a comparative study with distal myopathy with rimmed vacuole formation.
To clarify the clinical and morphological characteristics of distal muscular dystrophy, clinical and pathological material from 4 affected persons was compared with similar studies in 4 patients with distal myopathy with rimmed vacuole formation. Although these two forms of autosomal recessive distal myopathy with onset in young adulthood were highly similar in their clinical symptoms, histochemical and electron microscopic findings of muscles subjected to biopsy were quite different. The muscle abnormalities in distal muscular dystrophy were almost the same as those in Duchenne muscular dystrophy, showing massive fiber necrosis followed by active fiber regeneration. In contrast, distal myopathy with rimmed vacuole formation showed a progressive muscle fiber atrophy and loss, rimmed vacuoles in the sarcoplasm, and no apparent fiber necrosis or regeneration.
Adolescent↗
Fatal infantile mitochondrial myopathy and renal dysfunction caused by cytochrome c oxidase deficiency: immunological studies in a new patient.
A 3-month-old female infant had profound generalized weakness, de Toni-Fanconi-Debre syndrome, and lactic acidosis. She required assisted ventilation and died at the age of 8 months. Muscle biopsy showed accumulation of mitochondria, glycogen, and lipid droplets. Histochemical reaction and immunocytochemical stain for cytochrome c oxidase showed very weak results, but both reactions were normal in intrafusal fibers of the muscle spindle. In crude extracts of the patient's muscle, cytochrome c oxidase activity was undetectable and enzyme-linked immunosorbent assay showed decreased reaction at all dilutions of antiserum. These data indicate that the amount of immunoreactive enzyme protein is markedly decreased in muscle of patients with fatal infantile cytochrome c oxidase deficiency and renal dysfunction.
Biopsy↗
Localization of calcium-activated neutral protease (CANP) in the peripheral nerve.
Localization of calcium-activated neutral protease (CANP) in the rat peripheral nerve was studied by an indirect immunofluorescent method, using rabbit antiserum against CANP extracted from chicken skeletal muscle. Its specificity to CANP, as well as its cross-reactivity with rat CANP, were confirmed by the Ouchterlony immunodiffusion procedure and immunoreplica method. CANP was demonstrated in the axon, but not in the myelin sheath or endoneurium. We could not conclude whether or not CANP in axons exists in association with neurofilaments.
Animals↗
Two siblings with multiple intracranial haemangiomatosis with calcification.
Two siblings with multiple intracranial haemangiomatosis are reported, each having psychomotor retardation, epilepsy and gyriform type calcification in the occipital and frontal lobes. There were haemangiomas in one autopsy case with calcification in the deep layers of the cortex and subcortical white matter.
Brain Diseases↗
Internodal microvillus-like Schwann cell fingers in myelinated fibres in mouse spinal roots.
Collections of microvillus-like Schwann cell fingers identical to those described previously in the nodal gap substance were commonly found along the internodes of large myelinated fibres in the spinal roots of adult mice. They were covered by Schwann cell basal lamina and focally protruded from the outer cytoplasmic Schwann cell compartment. Unlike nodal Schwann cell fingers, these internodal fingers had no contact with the axolemma, but were directed toward the endoneurium. These were not recognized in the distal peripheral nerves. The frequent occurrence of internodal Schwann cell fingers in the spinal root fibres suggests that these structures may be involved in some electrophysiological regulatory mechanism in this particular region of the nervous system.
Animals↗
Effects of thymic myoid cell culture supernatant on cells from lymphatic tissues.
Conditioned media (MCM) of cloned thymic myoid cells (IT45R92, R613Ad, and R615B2) were used to investigate their possible involvement in thymic biological events. Those myoid cells produced in a culture medium biological activities capable of stimulating the growth of thymocytes, spleen cells, and bone marrow cells of mice and rats. Surface markers detected on spleen cells proliferating in MCM were characteristic of monocyte-macrophage lineages (C3R, Fc gamma R, asialo GM1) and T-cell lineages (Thy 1) but not B cells (sIgG). Chromatographic studies also suggested that the biological activities of MCM could be separated into two different molecular entities, such as a colony-stimulating activity and an interleukin 1-like activity which supported the growth of monocyte-macrophage lineages and T-cell lineages, respectively. These results indicate that thymic myoid cells produce cytokines important for the regulation of intrathymic interleukin cascade by which clonally differentiated thymic lymphocytes may be expanded into a sizable pool.
Animals↗
Congenital muscular dystrophy. A histochemical study with morphometric analysis on biopsied muscles.
Muscle biopsies from 10 Japanese patients (9 females and 1 male) with congenital muscular dystrophy (CMD) were studied. Their clinical features varied remarkably in severity; one patient died at 6 years of age. Family history was negative in all but one patient who had an affected sibling. Muscle biopsy findings varied from mild myopathic to advanced dystrophic changes. Hypertrophic fibers associated with occasional fiber splitting were assumed to reflect a chronic dystrophic process. Histochemical examination revealed type 1 fiber predominance in 5 patients, and type 2 fiber predominance in one. Eight patients had a slight to moderate increase in the number of undifferentiated type 2C fibers suggesting a regenerating process after fiber necrosis. Type 2B fibers were fairly well preserved in 8 patients. The overall findings differed from those of the Fukuyama type congenital muscular dystrophy (FCMD) and Duchenne muscular dystrophy (DMD) in which more active fiber necrosis and regeneration are seen. We conclude that the present CMD patients suffered from a chronic dystrophic process similar to that in limb-girdle muscular dystrophy.
Adolescent↗
Skeletal muscle involvement in Escobar syndrome.
In addition to the clinical characteristics of Escobar syndrome, including an anomalous facial expression, multiple joint contractures, multiple pterygia and a short stature, two female siblings developed proximal dominant muscle weakness from birth and slowly progressive scoliosis. Biopsied specimens obtained from the paravertebral and gluteus maximums muscles at the time of spinal surgery showed variation in fiber size, increased numbers of fibers with central nuclei, interstitial fibrosis and disorganized intermyofibrillar networks with occasional core/targetoid formations. The most outstanding histochemical abnormality in both cases was an abnormal fiber type distribution (type 2 fiber deficiency) which might be the result of an abnormal or deficient neural supply to the developing muscles. The defective neural influence on the muscle is assumed to produce the above-mentioned muscle changes, inducing multiple joint contractures and scoliosis.
Adolescent↗
Congenital muscular dystrophy with severe infantile scoliosis.
A girl with congenital muscular dystrophy with severe scoliosis from birth was presented. No positive family history was obtainable. She developed muscle hypotonia and weakness, and feeding difficulty during the neonatal period. Her developmental milestones were delayed; she learned to walk at the age of 2 years when she walked with a "waddling gait" and stood up with Gowers' maneuver. On physical examination at 2 years old, she had mild proximal dominant muscle weakness and atrophy, and severe scoliosis with a Cobb's angle of 74 degrees but no joint contractures in the extremities. Creatine kinase was slightly elevated. Biopsied muscle showed myopathic changes, including variation in fiber size, moderate fibrous tissue proliferation, some necrotic and regenerating fibers and type 1 fiber predominance, consistent with those seen in chronic progressive muscular dystrophy.
Biopsy↗
Successful carnitine treatment in two siblings having lipid storage myopathy with hypertrophic cardiomyopathy.
Two Japanese siblings had lipid storage myopathy with hypertrophic cardiomyopathy (HCM). They had slowly progressive muscle weakness and ventricular hypertrophy of the heart evidenced by electrocardiography and echocardiography. Their developmental milestones were normal until three years of age when mild weakness in the lower limbs became evident. Laboratory examination showed transient high creatine kinase levels (CK) and hyperammonemia. Histochemical investigation on the muscles revealed abnormal accumulation of sudanophilic lipid droplets predominantly in type 1 fibers, type 2 A fiber atrophy and type 2 B fiber deficiency. In case 1, excessive lipid droplets were also observed in the biopsied cardiac muscle. Carnitine was decreased in the skeletal muscles and the serum. Treatment with DL-carnitine to both cases resulted in marked clinical improvement and decreased lipid droplets in the muscles.
Cardiomyopathies↗
Diagnosis of partial deficiency of the pyruvate dehydrogenase complex in biopsied muscle.
We have measured the total activity of pyruvate dehydrogenase (PDH) complex, by in vitro activation with a broad specificity protein phosphatase, and the basal activity, supposed to be present in vivo, in biopsied muscles from three patients with PDH complex deficiency and 11 patients with lactic acidemia. Results showed that the total PDH complex activity must be determined in biopsied muscles for the diagnosis, because the basal activities of two of three patients with PDH complex deficiency overlapped those of two patients with lactic acidemia whose total activities were within normal range.
Adult↗
[A case of motor sensory neuropathy associated with mental retardation, conductive deafness and cerebellar signs].
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Cerebellar Diseases↗
[An infantile case of nemaline myopathy with severe respiratory failure].
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Child, Preschool↗
Two-step mechanism of myofibrillar protein degradation in acute plasmocid-induced muscle necrosis.
Acute muscle necrosis was induced in rats by intramuscular injection of plasmocid, a known myotoxic agent. A single injection of 5 mg/ml plasmocid produced massive fiber necrosis with extensive phagocytosis. Plasmocid administration led to a preferential decrease of alpha-actinin with preservation of other structural proteins within 3 h after injection, and large increases (2-7-fold) in the activities of acid hydrolases, cathepsins B and L, cathepsin D and alpha-galactosidase within 48 h after injection. The plasmocid-induced stimulation of alpha-actinin loss seen at 3 h, when no increases of acid hydrolases occurred, could be inhibited by a cysteine protease inhibitor, Ep-475 (E-64-c), and EGTA. On the other hand, increased lysosomal enzyme activity seemed to have a close correlation with the appearance of invading mononuclear cells, probably macrophages, and not muscle lysosomes. These observations suggest that a two step mechanism of protein degradation (nonlysosomal and lysosomal processes) possibly occurs in plasmocid-induced muscle degradation and macrophages can serve as a main endogenous reservoir of proteases in pathological states.
Actinin↗