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Biomedical subjects

H Sugie

Publications and source records attributed to H Sugie.

At least 73 records · Page 4Linked to original sources
PubMed1993

[Muscle carnitine contents in severely handicapped children with acute myoglobinuria].

Muscle carnitine was measured in 3 severely handicapped children with acute myoglobinuria. Muscle total carnitine levels were 9.6 +/- 3.0 nmol/mg non collagen protein (m +/- SD, control 15.7 +/- 2.8, n = 19), and free 6.5 +/- 3.0 nmol/mg non collagen protein (m +/- SD, control 12.9 +/- 3.7, n = 19), muscle free carnitine was significantly low in them. Serum carnitine was measured in 22 severely handicapped children. Serum total carnitine was 48.9 +/- 12.3 nmol/ml (m +/- SD, control 60.3 +/- 11.7, n = 14), and free 37.7 +/- 10.0 nmol/ml (m +/- SD, control 46.0 +/- 12.5, n = 14), serum carnitine was also significantly decreased. Secondary muscle and serum carnitine depletion might be one of the potential cause of myoglobinuria in severely handicapped children.

Age Factors↗
PubMed1992

[A case of adult onset phosphoglucomutase deficiency].

A case of 38-year-old male with adult onset phosphoglucomutase (PGM) deficiency was reported. The patient was admitted at Kawamura Hospital (Gifu City) for evaluation of easy fatiguability and exercise-induced weakness of the extremities since he was 20 years old. Physical examination revealed moderate muscle weakness, wasting of extremities, bilateral clubbed fingers and hypoesthesia of distal portion of extremities. Fasting plasma glucose was low (58 mg/dl). Venous concentration of lactate failed to rise after an ischemic forearm exercise test. An epinephrine tolerance test revealed hyperglycemic response. Studies of anaerobic glycolysis in vitro using muscle homogenates with the substrate between glucose-1-phosphate and glucose-6-phosphate showed decreased lactate production. Direct assay of individual muscle glycolytic enzymes demonstrated reduction of PGM activity (15% of normal, n = 12). Biopsy study with PAS staining of quadriceps femoris muscle demonstrated small amount of deeply staining glycogen in subsarcolemmal area. Electron microscopic examination revealed muscle destruction with small amount of glycogen in subsarcolemmal and intermyofibrillar spaces. Sural nerve biopsy showed degeneration of myelinated and unmyelinated fibers but there was no apparent accumulation of glycogen. From the clinical, biochemical and histopathological evidences, the patient might be a rare case of adult onset PGM deficiency.

Adult↗
PubMed1992

[A case of neonatal tuberous sclerosis with large calcified lesions in the brain parenchyma].

A patient was reported, who was diagnosed as having tuberous sclerosis in neonatal period. He began to have complex partial seizures at 3 weeks of age. At 27 days of age, brain CT revealed a large high density lesion from the left temporal cortex to the left posterior horn, in addition to periventricular nodules. These lesions were not enhanced after injection of contrast medium. Brain MRI demonstrated more nodular lesions, the intensity pattern of which was different form those in previously reported cases. Ictal EEG showed secondary generalization from left temporal focus, which was compatible with complex partial seizures. In English literature, neonatal cases of tuberous sclerosis with large parenchymal lesions on brain CT were reported by only a few authors, and only two cases of neonatal MRI findings were documented. The neonate with tuberous sclerosis should be carefully evaluated because of the atypical appearance of MRI in rare cases.

Brain Diseases↗
PubMed1992

[A biochemical study of an animal model with defective muscle glycolysis, induced by iodoacetate administration].

A rat model produced by intraaortic injection of sodium iodoacetate was analyzed biochemically. Hind leg muscles obtained from iodoacetate-injected site showed a selective inhibition of the glyceraldehyde-3-phosphate dehydrogenase (G3PD) activity less than 10% of control mean. No loss of mitochondrial enzyme activity was observed. Electrical stimulation at the sciatic nerve revealed muscle contractures and this muscle showed a mild degeneration in histochemically. This study indicates that this model will be useful to study the pathophysiology of human muscle glycogen storage diseases.

Animals↗
PubMed1992

[1H and 31P magnetic resonance spectroscopy study of a case of phosphoglycerate kinase deficiency].

Magnetic resonance spectroscopy (MRS) is a useful tool for detecting in vivo metabolic status and in vitro analysis of chemical metabolites. We performed MRS on a 15 year-old mentally retarded male patient with recurrent myoglobinuria due to phosphoglycerate kinase (PGK) deficiency. Muscle histochemistry was normal, although electron microscopy showed a significant increase in glycogen content. Biochemical analysis using muscle specimens revealed profound reduction of PGK activity to 4.4% of the control mean. In vivo MRS using 31P revealed a significant accumulation of sugar phosphates after ischemic forearm exercise, although no significant rise of inorganic phosphate was demonstrated during exercise. 1H MRS using the perchloric acid extracts of the blood taken at the ischemic forearm test, revealed no rise of venous lactate but a significant reduction of alanine levels. These data suggest that, unlike the patients with a glycogenolytic block, our patient with a distal glycolytic block shows a significant accumulation of sugar phosphates. The reason of the reduction of alanine levels was uncertain. A compensatory mechanism for energy supply to the muscle tissue was considered.

Adolescent↗
PubMed1991

High efficacy of monomethoxypolyethylene glycol-conjugated L-asparaginase (PEG2-ASP) in two patients with hematological malignancies.

Two patients with hematological malignancies were successfully treated with monomethoxypolyethylene glycol-conjugated Escherichia coli L-asparaginase (PEG2-ASP), which reportedly lacks both antigenicity and immunogenicity but retains catalytic activity as well as slow clearance in an experimental animal model. A 20-year-old male patient with leukemic lymphoma was refractory to conventional chemotherapy but responsive to L-asparaginase (L-ASP) followed, however, by severe adverse effects. On relapse, an intravenous infusion of 100-200 IU/day dose of PEG2-ASP alone led to a complete remission 2 months later without hypersensitivity or other significant adverse reactions. Surprisingly, he remained in a complete remission for over one year with a regular weekly infusion of PEG2-ASP, combined with a weekly small dose of Ara-C. During this period, blood asparagine was not detectable. The other patient, a 64-year-old woman with chronic myelogenous leukemia in blast crisis achieved, within 6 weeks, a complete remission with twice-weekly infusions of PEG2-ASP. Thus, PEG2-ASP is a highly effective antitumor agent overcoming the limitations in therapeutic use of L-ASP.

Adult↗
PubMed1991

[Study of human muscle biopsies with muscle glycogen storage diseases using 1H nuclear magnetic resonance spectroscopy (NMRS)--analysis of perchloric acid extracts of muscles].

Muscle metabolites of perchloric acid extracts in human muscle biopsies including the cases with muscle glycogen storage diseases (GSD) were analyzed using 1H NMR spectroscopy. Several metabolites such as lactate, pyruvate, creatine, phosphocreatine, acetate, alanine, carnitine and glycogen were recognized. The cases with GSD III and GSD V showed two broad signals at 3.60 and 3.85 ppm which were considered to be the proton signals from the accumulated glycogen. However, in GSD III, the signal at 3.60 ppm was high compared with that at 3.85 ppm suggesting that glycogen was increased in its degree of branching joined by alpha-1,6 linkage. These data suggest that 1H NMR spectroscopy is a useful and simple technique for analysis of muscle glycogen storage diseases as well as lipid myopathies.

Adult↗
PubMed1991

[Autosomal recessive oculopharyngeal "muscular dystrophy"--clinical features and association with reduced activity of myophosphorylase].

We reported two cases of brothers demonstrating oculopharyngeal muscular dystrophy (OPMD). The cases had consanguineous parents and five healthy siblings, which suggested the autosomal recessive inheritance. The initial symptom was slowly progressive blepharoptosis with onset in the third decade. On examination, total external ophthalmoplegia was observed in both patients. Additionally, the elder, a 57-year-old man, exhibited dysarthria, dysphagia and muscular weakness with atrophy of the face, bilateral proximal upper limbs and diffuse lower limbs. The younger brother, a 55-year-old man, displayed muscular weakness and atrophy distributed in the face and four limbs. Muscle biopsy of both cases revealed rimmed vacuoles and spheroid bodies in the atrophic and normal-sized fibers. Biochemical study of the biopsy specimens of the elder brother disclosed the myophosphorylase activity reduced to about 40% of the normal value, although in the younger brother, that activity was normal. OPMD is usually inherited in the autosomal dominant mode, and autosomal recessive OPMD is rare. The onset age of our cases was younger than that of the autosomal dominant OPMD. There were some differences in the clinical manifestation between the presented cases, which could be interpreted as phenotypic variation. The elder brother was thought to be associated with McArdle's disease.

Blepharoptosis↗
PubMed1991

[Carnitine palmitoyltransferase deficiency in a patient with severe psychomotor retardation].

A 13-year-old girl who had severe brain damage due to unknown prenatal cause presented rhabdomyolysis triggered by a mild viral infection. Her muscle biopsy revealed mild variation in fiber size and type 2 fiber atrophy without excess lipid storage. Biochemical analysis of the biopsied material showed decreased carnitine palmitoyltransferase (CPT) activity (15% of the control). Serum and urinary carnitine levels were normal. Skeletal muscle CT scanning showed multiple low density spots. The patient was diagnosed as having CPT deficiency. She recovered from rhabdomyolysis without renal failure after a month with conservative therapy. CPT deficiency is usually found in young healthy persons. This is the first case report of CPT deficiency which presented severe psychomotor retardation since neonatal period.

Adolescent↗
PubMed1990

Histochemical and biochemical studies in a patient with myophosphorylase deficiency.

The present report describes the histochemical and biochemical findings of biopsied muscles in a 26-year-old male with myophosphorylase deficiency. Histochemical analysis of the first biopsy specimen revealed that the phosphorylase activity was absent, corresponding to an absent band at 94,000 Da on the basis of sodium dodecyl sulfate-polyacrylamide gel electrophoresis (SDS-PAGE). Histochemically the second biopsy specimen showed a partial phosphorylase activity of type 2B fibers, corresponding to a weakly staining band at 94,000 Da on the basis of SDS-PAGE. The present study supports the hypothesis that myophosphorylase deficiency is essentially a single gene disorder, characterized by absence or marked reduction of the myophosphorylase protein.

Adult↗
PubMed1990

[A pathophysiological study of macular mutant mouse as a model of human Menkes kinky hair disease. I. Copper contents and copper dependent enzyme activities in various organs].

The wet weight, copper content, mitochondrial electron-transfer complexes and 2',3'-cyclic nucleotide 3'-phosphohydrolase (CNPase) were measured in various organs including brain, liver, kidney, and heart in macular mutant mice which are considered to be an appropriate model for human Menkes kinky hair disease (MKHD). Copper contents were decreased markedly in liver, brain, and heart. However a significant increase was noted in kidney, suggesting a disproportionate distribution of copper contents in each organ in this mutant mouse. Regarding mitochondrial electron-transfer complexes, only cytochrome c oxidase, a copper dependent enzyme, was found to be decreased in heart and brain. This alteration in the brain was already demonstrated at 2 days. CNPase was not decreased in its activity at 7 days, but decreased at 14 days, supporting progressive demyelination. These results suggested that this mutant mouse would be a useful animal model for clarifying the pathogenesis in human MKHD.

2',3'-Cyclic Nucleotide 3'-Phosphodiesterase↗
PubMed1990

[A pathophysiological study of macular mutant mouse as a model of human Menkes kinky hair disease. II. Analysis of brain metabolism using 31P- and 1H-nuclear magnetic resonance spectroscopy].

We studied the brain metabolism in macular mutant mice (Ml/y, +/y), an appropriate model of Menkes kinky hair disease, using 31P- and 1H-NMR spectroscopy to clarify the pathophysiological mechanisms of disturbed nervous function. An analysis of in vivo 31P-NMR spectra showed a decreased phosphocreatine (PCr)/inorganic phosphate (Pi) ratio and decreased ATP levels and decreased intracellular pH in Ml/y mice at 9 days, suggesting energy failure in the brain. This associated decline in ATP levels may reflect multiple causative factors including disturbed mitochondrial respiration and ischemia secondary to circulatory failure. Brain metabolites, including PCr, creatine, lactate and 7 amino acids were easily detectable quantitatively and qualitatively by in vitro 1H-NMR spectrum. An elevation in lactate levels and a decline in PCr/creatine ratio in Ml/y mice at 9 days were also noted with an in vitro study, supporting the in vivo data. NMR spectroscopy is a useful and promising tool to obtain the information on brain metabolism.

Amino Acids↗
PubMed1990

[Effects of neonatal hypothyroidism on brain development: analysis of brain metabolites using high resolution phosphorus and proton magnetic resonance (NMR) spectroscopy].

The brain metabolites were studied in the neonatal hypothyroid rat brain using 31P and 1H nuclear magnetic resonance (NMR) spectroscopy. In vivo 31P spectroscopy of the brains in hypothyroid rats showed the tendency of decrease in phosphocreatine/Pi and phosphocreatine/ATP ratio, suggesting suppressed brain energy status. On proton analysis using perchloric acid extracts of the brain, 10 metabolites were easily recognized. Quantitative analysis of individual metabolites revealed decreased contents of GABA, NAA (N-acetyl aspartate) and phosphocreatine and increased contents of taurine in hypothyroid rat. It was concluded that NMR is a useful and promising tool to evaluate brain metabolites.

Animals↗
PubMed1990

[Study of metabolic myopathies using 1H NMR spectroscopy--analysis of muscle metabolites and muscle autolytic change].

Muscle metabolites of perchloric acid extracts were analyzed using 1H NMR spectroscopy. Several metabolites including lactate, pyruvate, creatine, phosphocreatine, carnitine, acetate and alanine were easily recognized. Muscles frozen with isopentane cooled by liquid nitrogen did not show any significant differences from those directly frozen by liquid nitrogen regarding the contents of metabolites, however moderate delay until freezing the muscle specimens produced considerable biochemical changes. In human application using the biopsied muscle of the patient with myophosphorylase deficiency, in vitro anaerobic glycolysis experiments clearly detects the defect in glycolytic pathway by 1H NMR spectroscopy, revealing the abnormal lactate production blocked between glycogen and glucose-1-phosphate. These data suggests that 1H NMR spectroscopy is useful for analysis of metabolic myopathies.

Anaerobiosis↗
PubMed1989

[Analysis of therapeutic efficacy of combined radio-chemotherapy, pre-radio-therapy in 61 cases of non-Hodgkin's lymphoma].

Treatment results were retrospectively analyzed in 61 cases of non-Hodgkin's lymphoma (stage I: 21 cases, stage II: 40 cases) that were diagnosed between July, 1977 and Oct., 1987. The actuarial five-year survival rates for stages I and II were 84.4% and 50.7% respectively, whereas those were 47.5% and 75.3% respectively for those treated by radiotherapy (XRT) alone and combined radio-chemotherapy including all cases of stage I and II. Also the results of combined radio-chemotherapy were significantly better than those of XRT alone. Particularly, the pre-radio-chemotherapy group had a 5-year survival rate of 85.7%. In conclusion, the results of combined radio-chemotherapy, particularly pre-radio-chemotherapy, was significant between those of XRT alone.

Adolescent↗