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S Tsurui

Publications and source records attributed to S Tsurui.

At least 19 recordsLinked to original sources
PubMed1996

[Nine cases of debrancher deficiency (glycogen storage disease type III) presenting muscle weakness--study on clinicobiochemical analysis].

In nine patients aged 3 to 45 years with glycogen storage disease type III (GSD III) presenting muscle weakness, the clinical manifestations and biochemical subtype-classifications based on organ specificity or enzymatic varieties of debrancher enzyme were analyzed. All the patients developed muscle weakness since childhood. Five patients who showed muscle weakness beginning from childhood became apparently progressive during adult life. Cardiac involvements were noticed in six patients. Eight patients were diagnosed as having type IIIa and one type IIId. Our results suggest that progressive muscle weakness and cardiac symptoms are not rare in GSD III patients, especially in the patients with enzyme deficiency in muscle tissue as well as liver. Hence we recommend to measure debrancher activity in muscle tissue in order to predict the clinical prognosis of the patients with GSD III.

1,4-alpha-Glucan Branching Enzyme↗
PubMed1995

A case of paroxysmal tonic upward gaze associated with psychomotor retardation.

The authors report a female with paroxysmal tonic upward gaze similar to the cases reported by Ouvrier and Billson (1988). She developed abnormal eye-movements at the age of six months. Several anticonvulsants and levodopa were not effective in the control of the episodes; however, her upward eye-deviations spontaneously decreased during the one-year observation. Her clinical features were almost identical to those reported by Ouvrier and Billson, except that she had neurodevelopmental disorder and abnormal brain MRI. More data are required to clarify this unique phenomenon.

Anticonvulsants↗
PubMed1995

[Clinical and biochemical analysis of 27 patients with myoglobinuria of unknown causes].

We examined the clinical and biochemical features of 27 cases with acute myoglobinuria who had been suspected of having metabolic myopathies. The systematic biochemical studies included the measurements of 13 glycolytic enzymes, mitochondrial respiratory chain enzymes, carnitine palmitoyltransferase (CPT) and 5 enzymes of fatty acid beta-oxidation. Enzyme defects were found in 9 patients using muscle biopsy specimens: phosphorylase deficiency in 3, CPT deficiency in 4 and phosphoglycerate kinase deficiency in 2. One patient was diagnosed as MELAS (mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes) with the histopathological examination and clinical data. A suspicion of beta-oxidation disorder was entertained in some patients of which the activities were about 50% of control means. However, no evidence to substantiate its significance as the enzyme defects was obtained from our data. Sixteen of 17 undiagnosed cases could be divided into two groups according to precipitating factors as follows: one had exercise as the factors and the other had infection. These groups also showed some differences in clinical features. In the infection group, myoglobinuria tended to progress more rapidly and was occasionally followed by acute renal failure. And some cases had additional associated conditions such as mental retardation or epilepsy. On the other hand, the exercise group had only myopathic symptoms. The difference in these clinical features between the two groups suggested that they had the different pathogenic mechanisms respectively.

Adolescent↗
PubMed1994

[Five cases of phosphorylase b kinase deficiency affecting muscle or liver: clinical symptoms and diagnosis].

Muscle, erythrocyte and/or leukocyte phosphorylase b kinase (PBK) activities were measured in 5 patients and in 2 families. The relation between phenotype and enzyme deficiency in clinically variable samples based on measurement of erythrocytes, leukocytes or muscle was described. Three patients showed the enzyme deficiency in liver and the disease was transmitted as an X-linked recessive trait. In these cases, our results suggested that carrier detection was more reliable with erythrocytes than leukocytes. Two patients showed enzyme deficiency in muscle, and the mode of inheritance was not clear. In these cases, muscle biopsies were necessary for diagnosis.

Child↗
PubMed1993

[A case of advanced gastric cancer responding well by preoperative chemotherapy with CDDP and MMC].

A 35-year-old female who suffered advanced gastric cancer (classified Borrmann type 3) with para-aortic lymph nodes swelling received chemotherapy preoperatively. These lymph nodes, which could be detected by abdominal CT scan, were highly suspected of metastasis from gastric cancer. The regimens of neoadjuvant chemotherapy were Mitomycin C (MMC) 8 mg/m2 and Cis-platinum (CDDP) 75 mg/m2, administered intravenously as one course. After she was given these two courses, we performed total gastrectomy, pancreatico-splenectomy, and lymph-adenectomy curatively. The patient has been maintained in an outpatient clinic for one and half years without any evidence of recurrence.

Adult↗
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 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↗
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↗
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

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↗