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Biomedical subjects

T Miike

Publications and source records attributed to T Miike.

104 records · Page 6Linked to original sources
PubMed1982

Infantile glycogen storage myopathy in a girl with phosphorylase kinase deficiency.

A 19-month-old girl with moderate hypotonia was studied. Histochemical and electronmicroscopic findings revealed that many skeletal muscle fibers contained an excess amount of glycogen. The phosphorylase reaction was normalized only after activation with 5' AMP. Biochemical studies showed an increased glycogen content and decreased activities of phosphorylase "a" and an active form of phosphorylase kinase, whereas activities of total phosphorylase, total phosphorylase kinase, and cyclic AMP-dependent protein kinase were all in the normal range. Thus, phosphorylase kinase in the patient's muscle seemed to be a variant form, which was activated partially under the physiologic condition. This condition may be inherited as an X-linked recessive trait.

Acid Phosphatase↗
PubMed1981

Ultrastructural abnormalities and perifascicular atrophy in childhood dermatomyositis with special reference to transverse tubular system-sarcoplasmic reticulum junctions.

Comparison of ultrastructural abnormalities between perifascicular and centrofascicular myofibers was made in the same muscle fascicles from six patients with childhood dermatomyositis. Consistent abnormalities are seen at the junctional sites between the transverse tubular system (TS) and sarcoplasmic reticulum (SR) as visualized by lanthanum staining. Early conical dilations at the TS-SR junctions have progressed to become connected with large cylindrical or spheroid channels representing SR. These TS-SR anastomoses are far more extensive in the perifascicular than in the centrofascicular myofibers. Honeycomb TS proliferations suggestive of a repair process occasionally occur at the sites of TS-SR anastomoses. These alterations precede myofibrillar derangements and they may be related to the primary pathogenetic process involved in dermatomyositis. It is postulated that leakage of degraded structural protein molecules through TS-SR anastomoses may lead to the perifascicular atrophy seen on light microscopy.

Adolescent↗
PubMed1979

Neuropathology of "spinning syndrome" induced by prenatal intoxication with a PCB in mice.

A striking motor dysfunction, "spinning syndrome," developed with a high frequency in weaning mice whose dams received oral 3,4,3',4'-tetrachlorobiphenyl (4-CB) during gestation (day 10 through day 16). The syndrome is permanent and is characterized by swift circling movements sustained in one direction at a minimal rate of 40 turns/min (usually 50 to 150 turns/min), restlessness, and hyperkinesia. Twenty-four spinners and 4-CB nonspinners and age-matched controls were subjected to histopathologic, histofluorescent, histochemical, and electron microscopic studies. The most reliable histopathologic marker for prenatal 4-CB injury to the CNS is the presence of cylindrical CNS peninsulas (CCPs) in the spinal and cranial nerve roots. The CCPs consist of either CNS-type myelinated fibers, unmyelinated fibers, or astroglial bundles in varying proportions, and are enclosed by a basement membrane. The CCPs are also observed in 4-CB nonspinners but in none of 12 controls studied. A selective defect in synaptogenesis induced prenatally by 4-CB is proposed as the primary event pursuant to the development of the CCPs, while interference with synaptogenesis may have occurred selectively in the striatonigral dopaminergic system. This is suggested by electron microscopy on the nucleus accumbens and also by the responses to administration of dopaminergic agonists and antagonist. The 4-CB induced clinico-pathologic anomaly may serve as a singular model for understanding human neurologic disorders, in particular, Werdnig-Hoffmann disease and minimal brain dysfunction syndrome.

Animals↗
PubMed1978

Mitochondrial fraction of serum glutamic-oxaloacetic transaminase in Duchenne muscular dystrophy.

The mitochondrial fraction of serum glutamic-oxaloacetic transaminase was measured in the serum of 50 patients with Duchenne muscular dystrophy by an immunoadsorbent method. The enzyme activities in patients in the early, midstage, and late stages of the disease and controls were 21.8 +/- 7.4 (N=9), 12.2 +/- 3.7 (N=38), 6.4 +/- 1.2 (N=3) and 4.2 +/1 1.2 units/ml (N=15), respectively. The enzyme level in the early stage was significantly elevated (p less than 0.01, vs. control, p less than 0.05 vs. mid stage). As the disease progressed, the levels gradually declined, but mid-stage values were still higher than the late stage (p less than 0.01) or control values (p less than 0.01). In the late stage, enzyme activity was within the control range.

Adolescent↗
PubMedDate not supplied

Central nervous system disorders and possible brain type carnitine palmitoyltransferase II deficiency.

We describe two male infants with central nervous system disorders, i.e. infantile spasms in one and athetotic quadriplegia in the other, and with recurrent attacks of high plasma creatine kinase levels induced by viral infections. Although carnitine palmitoyltransferase I (CPT I) activity in biopsied muscle was normal in both cases, that of carnitine palmitoyltransferase II (CPT II) was decreased to 37% and 25% of the control value, respectively. Meanwhile, to determine whether or not and how CPT exists in the central nervous system (CNS), we studied animal brain tissues. CPT activity was demonstrated in almost all regions, especially in the brainstem, cerebellum and spinal cord. Although CPT deficiency can be classified into hepatic (CPT I) and muscular (CPT II) presentations, these data suggest that another symptomatology of CPT II deficiency with CNS involvement (brain type?) might exist.

Animals↗
PubMedDate not supplied

Two patients with distal muscular dystrophy and autonomic nerve dysfunction.

Two female patients with distal muscular dystrophy (Miyoshi) are reported. Neurological examination revealed marked weakness and a low skin temperature of both lower legs, especially over the gastrocnemius muscle. Biopsy specimens of the anterior tibial muscle exhibited myopathological features compatible with a dystrophic change and showed positive dystrophin reactions with all six antibodies used. Autonomic nerve studies in both patients, including laser Doppler flowmetry (LDF), component analysis of the cardiographic R-R interval and a sympathetic skin response (SSR) test, demonstrated marked abnormalities, such as sensitive vasoconstrictive responses, a suppressed peak of low frequency components and an absence of SSR, respectively, compared with findings in healthy controls. Sympathetic nerve blocking by means of epidural anesthesia produced clinical improvement and a marked decrease in the serum CK level in one patient. Although the etiology of autonomic nerve disturbances in these cases remains to be elucidated, a positive immunoreactivity of nerve growth factor receptor (NGFR) implies the possibility of some unknown sympathetic neurovascular disorder involving muscle degeneration.

Adolescent↗
PubMedDate not supplied

A school refusal case with biological rhythm disturbance and melatonin therapy.

An 18-year-old male high school student with school refusal and circadian rhythm disturbance is reported. At 17 years of age, he was unable to attend school because of a reversal of the daily rhythm and a moderate depressive feeling. Other circadian rhythms, including deep body temperature (DBT), and plasma melatonin, cortisol and beta-endorphin, also showed quite different or abnormal curves compared with those in normal controls. He was treated with methyl B12 and melatonin, which normalized the circadian rhythm, i.e. it became entrained to a 24-h period, and the DBT and hormonal rhythms became closer to normal patterns. These results suggest that desynchronization of the biorhythms, particularly the circadian rhythm, may be one of the important causes of school refusal in Japan, and melatonin and methyl B12 might be useful for treatment of the condition.

Adolescent↗
PubMedDate not supplied

Circadian rhythm abnormalities in adrenoleukodystrophy and methyl B12 treatment.

A 13-year-old male with adrenoleukodystrophy (ALD) developed a sleep-wake disorder after complete vision loss. He had a 25-h sleep-wake cycle. After methyl B12 therapy, circadian rhythms in his plasma melatonin and beta-endorphin levels approximated those of healthy volunteers, and his peak cortisol time shifted backward. Daily deep body temperature (DBT) amplitude was smaller than in healthy males before and after the treatment, and his acrophase did not change. However, his sleep-wake rhythm became normal. Methyl B12 is considered useful for treating circadian rhythm disturbances in patients having central nervous system disorders and blindness.

Adolescent↗
PubMedDate not supplied

Carnitine prevents Reye-like syndrome in atypical carnitine deficiency.

A patient with repeated episodes of a Reye-like syndrome was studied. Serum and muscle carnitine levels were normal, but there was an apparent accumulation of muscle lipid and glycogen. Ragged-red fibers were present in the muscle. Prolonged fasting (20 hours) induced hypoglycemia, lactic acidosis, an increase in free fatty acids, and hyperammonemia. There was an accompanying sizeable reduction in the serum free carnitine level. Fasting with L-carnitine administration resulted in milder changes in these laboratory measures. Administration of L-carnitine, (100 mg/kg/day) led to clinical improvement as evidenced by fewer attacks and a normal Gowers sign.

Biopsy↗
PubMedDate not supplied

Creatine kinase brain isoenzyme in infantile osteopetrosis.

A 14-month-old girl with infantile osteopetrosis had hematologic and neurologic complications with severe brain atrophy. Although serum contained high creatine kinase brain isoenzyme activity (CK-BB), CK-BB activity was not detected on repeated cerebrospinal fluid examinations. After frequent blood transfusions and steroid therapy, hematologic involvement improved gradually and disappeared finally at age 11 months; serum CK-BB tended to show a concomitant proportional increase in activity. A 111Indium chloride scan was performed at age 4 weeks when the patient had relatively low serum CK-BB activity. It indicated active extramedullary hematopoiesis in the liver and spleen. The second scan was performed at age 12 months when she had high serum CK-BB activity and indicated active medullary hematopoiesis in the cranium. The tests disclosed that the elevated serum CK-BB activity was the result of bone marrow serum leakage, and not leakage from brain tissue. This finding may be a good marker of medullary hematopoietic activity in patients with osteopetrosis. Meanwhile, biopsied sural nerve revealed storage of cellular debris, including myelin figures in the Schwann cells, which suggested increased degradation process in the cells or lysosomal enzyme deficiency.

Atrophy↗
PubMedDate not supplied

Electrophoretic studies of muscle proteins in Duchenne muscular dystrophy and other neuromuscular disorders--with special reference to the change of dystrophin.

We studied total SDS-solubilized muscle proteins (TMP) of Duchenne muscular dystrophy (DMD) and other neuromuscular disorders, with special attention to the change of dystrophin suspected of being the product of DMD locus. SDS gel electrophoresis of DMD patients showed an absence of band 5 and an extreme faintness of band 2 with a decrease of band 4', 5', and 5''. Immunoblot analysis, using anti-dystrophin antibodies (anti-30 kd and anti-60 kd polyclonals), showed an absence of dystrophin in all 6 DMD cases. In other neuromuscular disorders, there was no change of TMP, and dystrophin was clearly detectable. To elucidate the degenerative mechanism of DMD muscle, further studies, including the problem of clarifying the physiological role of dystrophin, are necessary.

Adult↗
PubMedDate not supplied

Single photon emission computed tomography in children with idiopathic seizures.

Single photon emission computed tomography (SPECT) with N-isopropyl-p[123I]-iodoamphetamine (IMP), X-ray computed tomography (X-CT), and magnetic resonance imaging (MRI) were performed in 20 children with idiopathic seizures. In children with idiopathic seizures, SPECT could detect the abnormal sites at the highest rate (45%) compared with CT (10%) and MRI (12%), but the abnormal sites on SPECT correlated poorly with the foci on electroencephalograph (EEG). Idiopathic epilepsy with hypoperfusion on SPECT was refractory to treatment and was frequently associated with mental and/or developmental retardation. Perfusion defects on SPECT scans probably affect the development and maturation of the brain in children.

Adolescent↗