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Biomedical subjects

Y Sugie

Publications and source records attributed to Y Sugie.

49 records · Page 3Linked to original sources
PubMed1989

Recurrent myoglobinuria in a child with mental retardation: phosphoglycerate kinase deficiency.

We report the case of an 11-year-old mentally retarded boy with recurrent myoglobinuria precipitated after a generalized tonic-clonic convulsion. No hemolysis was noted. Ischemic forearm test revealed no rise of venous lactate, suggesting a metabolic defect in an anaerobic glycolytic pathway. Histochemistry studies of the quadriceps muscle showed a normal appearance, but electron microscopy confirmed a moderate increase of the glycogen content in muscle. Direct measurement of glycolytic enzymes demonstrated a marked decrease of phosphoglycerate kinase (PGK) activity in muscle (4.4% of control mean) and hemolysate (8% of control mean). Enzyme characteristics of PGK from our patient (PGK Hamamatsu) using hemolysate demonstrated that it had normal Michaelis constants (Km), normal thermal stability, and a normal pH curve. The reason that hemolytic anemia was absent is uncertain. We concluded that a systematic enzyme analysis of the glycolytic pathway, especially of PGK, should be performed on myoglobinuric patients who are males, or who have an X-linked inheritance as suggested by the family history.

Biopsy↗
PubMed1989

[A case of systemic lupus erythematosus associated with lateral medullary syndrome and unilateral internuclear ophthalmoplegia].

A rare case of systemic lupus erythematosus (SLE) associated with lateral medullary syndrome and unilateral internuclear ophthalmoplegia was reported. A 15 year old girl was admitted to Kyushu University hospital on 2 September in 1987 because of vertigo, occular symptom, and sensory disturbance. She had noted vertigo since 28 August. On admission she had nystagmus, left Horner syndrome, sensory disturbance of left hemiface and right limbs and trunk and mild hemiparesis of right limbs. She also had a discoid erythema behind the left ear, butterfly rash on her cheek. She developed right internuclear ophthalmoplegia on 6 September. Investigations revealed biological false positive of serological test for syphilis, positive antinuclear antibodies, and prolonged APTT. Peripheral blood cell count and erythrocyte sedimentation rate were normal. There was no proteinuria. Computed tomography and magnetic resonance imaging failed to detect any lesions in the brain. Cerebrospinal fluid cell count was 20/3 and Ig-G index was 17.1%. Her neurological signs were thought to be related to SLE. Lupus anticoagulant might be responsible for the development of impairment of central nervous system (CNS). She was treated with prednisolone, initial dose of 40mg, and the symptoms and signs were improved quickly. Early diagnosis and treatment for SLE with CNS involvement is primarily important.

Adolescent↗
PubMed1989

[Benign infantile mitochondrial myopathy due to reversible cytochrome c oxidase deficiency: histological and biochemical analysis].

We reported a 3-week-old girl with profound generalized weakness, requiring assisted ventilation. There was no consanguinity or family history of any neuromuscular disorders. Serum levels of GOT, GPT and CK were slightly elevated. Although the clinical manifestations mimicked those of Werdning-Hoffmann disease, a lack of the respiratory muscle involvement and the presence of high serum lactate levels suggested an underlying metabolic disorder. During the observation over the months, she gradually improved clinically and assisted ventilation was discontinued at 19 months. Muscle biopsies were performed at 4 and 19 months of age. The first biopsy showed an excessive mitochondrial aggregation and numerous ragged-red fibers. The second biopsy revealed rare ragged-red fibers. However there were definite neurogenic changes including type grouping and angulated fibers. Cytochrome c oxidase (CCO) stain was positive in less than 5% of fibers in the first biopsy but in all fibers in the second biopsy. Biochemical analysis using muscle specimens showed a decreased CCO activity; 18.5% of the control level in the first biopsy and 53.3% in the second biopsy. Immunocytochemistry showed the presence of immunologically reactive enzyme protein in both biopsies. Clinical manifestations of our patient were almost identical to those of two cases reported by DiMauro, et al (1983). The enzyme defect in this case was reversible in contrast to that in the fatal infantile form of CCO deficiency. Histochemical and biochemical bases for these differences were discussed.

Cytochrome-c Oxidase Deficiency↗
PubMed1989

[Biochemical analysis using biopsied muscle in 72 patients with metabolic myopathies].

Biochemical analysis using biopsied muscle specimens was performed on 72 cases who had symptoms suggesting metabolic myopathies. Sixteen out of 72 cases (22%) were diagnosed as having chemically confirmed metabolic defects. Of these 16 cases, 9 had defects in the glycolytic pathway (glycogen storage disease type II; 3 cases, type III; 1 case, type V; 3 cases, phosphoglycerate kinase deficiency; 1 case, phosphoglucomutase deficiency; 1 case) and 7 cases in mitochondrial metabolism (complex IV deficiency; 4 cases, carnitine deficiency; 3 cases). Among 14 cases who were strongly suspected as having a defect in the glycolytic pathway because of abnormal ischemic forearm test, 6 (43%) showed biochemically proved glycolytic defects. These data suggest that care should be taken when evaluating the results of ischemic forearm test. In addition, we should carefully interpret the muscle histochemistry, because histochemical stains including PAS might be fairly normal in the defects with second step glycolytic pathway.

Adolescent↗
PubMed1988

Infantile muscle glycogen storage disease: phosphoglucomutase deficiency with decreased muscle and serum carnitine levels.

We report a 5-month-old boy with recurrent vomiting, lethargy, and poor weight gain. He had profound metabolic acidosis and nonketotic dicarboxylic aciduria. The serum and muscle carnitine levels were significantly low (60% and 10% of the control means, respectively), suggesting that the patient had a systemic carnitine deficiency syndrome. The patient showed apparent clinical improvement on oral carnitine administration. A quadriceps muscle biopsy revealed a slight increase in intrafiber lipid droplets and mild accumulation of glycogen in the subsarcolemmal portion. An anaerobic glycolysis in vitro study showed a block after glucose-1-phosphate and before glucose-6-phosphate. Direct measurement of individual glycolytic enzymes in muscle of the patient demonstrated a marked decrease in phosphoglucomutase (PGM) activity (13% of the control mean). The specific defect of PGM activity in this patient suggests that the block in the anaerobic glycolytic pathway is the primary abnormality. PGM deficiency can be added as a newly recognized cause of secondary systemic carnitine deficiency syndromes.

Carnitine↗
PubMed1987

[Biochemical effects of thyroid hormones on the developing rat brain; analysis of nucleic acids and protein synthesis using a cell free system].

Thyroid hormone effects on the developing rat brain were analyzed regarding the nucleic acid contents and the rate of protein synthesis using PTU induced neonatal hypothyroid rat as a model for human congenital hypothyroidism. Significantly reduced amount of total DNA contents per brain and protein/DNA ratio were demonstrated in both cerebrum and cerebellum of the hypothyroid rat after 14 days, suggesting the disturbed cell formation and cell growth in the hypothyroid rat brain. And the maturation of the cerebellum extended later into postnatal life than does that of the cerebrum. Additional evidence by the reduced rate of protein synthesis in the hypothyroids would correlate with these altered morphogenesis. Postmitochondrial supernatant (PMS) obtained from both control and hypothyroid brain homogenate, which was used for the experiment of protein synthesis, contained the same amount of the RNA contents. Therefore the defective protein synthesis might be attributed to the disturbed translational process of the genetic message in protein.

Animals↗
PubMed1987

[Spectral EEG analysis in children treated with high-dose methotrexate].

During the use of a therapeutic regimen of high-dose methotrexate (HD-MTX) with leucovorin rescue in two cases of osteogenic sarcoma and malignant lymphoma without central nervous system (CNS) involvement, serial EEG monitoring before and after MTX infusion was performed with special reference to occipital basic activity. The EEGs were analyzed as to the power average spectrum using an ATAC-450 (NIHON KOHDEN). At 48 hours after the initiation of MTX, there was a transient but statistically significant slowing, such as a drop in the dominant frequency and a decrease in the alpha/theta ratio. Complete recovery of EEG changes occurred within one week. No clinical symptoms suggestive of CNS impairment were noted in either case. These data suggest that EEG alterations might be a reflection of subclinical CNS impairment. Therefore, serial EEGs might be a good early indicator for the detection of leukoencephalopathy in high-risk patients.

Bone Neoplasms↗
PubMed1985

A case of polymyositis associated with Kawasaki disease.

We report a 3-year-old boy with proximal painful muscle weakness associated with Kawasaki disease. The muscle biopsy revealed inflammatory cell infiltration with vasculopathy. This unique coexistence of polymyositis and Kawasaki disease is quite uncommon and suggests a newly recognized complication during Kawasaki disease.

Biopsy, Needle↗
PubMedDate not supplied

Evaluation of patients with lactic acidosis using microphotometric mitochondrial enzyme assay in single muscle fibers.

Microphotometric enzyme assay in single muscle fibers was performed on two patients with lactic acidosis. Neither case showed ragged red fibers upon histochemical evaluation. Biochemical analysis of mitochondrial enzymes demonstrated low normal cytochrome c oxidase (COX) activity in Case 1 and deficient COX in Case 2. Quantitative single muscle fiber analysis in patients showed marked variation in COX activity in Case 1, reflecting mosaic distribution of fibers with near-normal COX activity and with defective COX activity. These data suggest that this microphotometric assay may be valuable for elucidating the significance of 'partial enzyme deficiency'. In addition, this assay method may be applied to needle biopsy specimens.

Acidosis, Lactic↗