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H Sugie

Publications and source records attributed to H Sugie.

At least 55 records · Page 3Linked to original sources
PubMed1998

Myophosphorylase deficiency and limb-girdle muscular dystrophy in the same pedigree.

We report 2 familial patients with limb-girdle muscular dystrophy (LGD). The parents of patient 1 showed a consanguineous marriage and patient 2 was a paternal cousin of patient 1. Slowly progressive muscular weakness/wasting and dystrophic changes in the biopsied muscles were observed in both patients. However, a quantitative assay revealed a severely reduced myophosphorylase activity in patient 1 with normal activity in patient 2. A semi-ischemic exercise test disclosed no elevation of venous lactate in patient 1 with a normal increase in patient 2. A leukocytes DNA analysis in patient 1 did not show the gene deficits previously recognized in patients with McArdle's disease (McD). Patient 1 may only have abnormal myophosphorylase activity with dystrophic changes secondary to the myophosphorylase deficiency or coincidentally two genomic abnormalities for McD and LGD. LGD still has heterogenous etiologies and the responsible genes for these two disorders may be closely mapped.

Adult↗
PubMed1998

[Low-dose levodopa therapy of autistic disorder: evaluation of clinical effectiveness].

Based upon the hypothesis that brain monoamine metabolism is disorganized in some children with an autistic disorder, we tried low dose levodopa therapy (0.5 mg/kg/day) proposed by Segawa, et al. We treated 20 patients with an autistic disorder diagnosed according to DSM-IV, and evaluated the effectiveness. A double blind cross over method was applied in this study because of the small number of patients. Drug effects were observed carefully by the psychologists and pediatric neurologists using an evaluation sheet consisting of twenty items. No significant effectiveness was observed in this study, although four cases (20%) showed some improvement. In conclusion, administration of low dose levodopa to autistic children resulted in no clear clinical improvements of autistic symptoms.

Autistic Disorder↗
PubMed1997

Detection of triazolam in skeletal remains buried for 4 years.

Analyses of the hypnotic triazolam from the remains of two human skeletons buried underground for 4 years were made for purposes of confirmation. The bone marrow and mummified muscle were digested with 2 M sodium hydroxide, efficiently extracted using a 3-step solvent extraction procedure, and selectively analyzed by gas chromatography/mass spectrometry with the negative ion chemical ionization mode. Estazolam was the internal standard used. Triazolam was detected in all the samples; the concentrations were 0.36 ng/g in the bone marrow of one victim, and 0.37 and 5.5 ng/g in the bone marrow and mummified muscle of the other victim. This method should prove useful for determination of triazolam in extensively decomposed bodies.

Bone Marrow↗
PubMed1996

Cerebral oxygen and glucose metabolism in glycogen storage disease with normal acid maltase: case report.

A 26-year-old male with cardiomyopathy, cervical muscle weakness and mental retardation was diagnosed as having glycogen storage disease with normal acid maltase on the basis of his clinical, pathological and biochemical findings. Positron emission tomography showed that cerebral oxygen metabolism was normal, while cerebral glucose metabolism was decreased in the cerebral cortexes. The decrease of the glucose metabolic rate may reflect an abnormality of cerebral glucose metabolism in this disorder and may be related to mental retardation, which is one of the characteristic symptoms.

Adult↗
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

Genetic analysis of Japanese patients with myophosphorylase deficiency (McArdle's disease): single-codon deletion in exon 17 is the predominant mutation.

We report molecular genetic analysis of 11 Japanese patients with myophosphorylase deficiency (McArdle's disease). Four reported mutations, frequently observed in patients with McArdle's disease, in exons 1, 5, 14 and 17 were investigated. Seven patients out of 11 were homozygous for a single-codon deletion at codon 708/709 in exon 17 and one patient was heterozygous for a single-codon deletion with an unknown mutant allele. In contrast, the predominant mutation reported in US and UK patients (CGA to TGA at codon 49 in exon 1), accounting for 75% and 83% of the cases, respectively, was not found in any of the Japanese patients. Results suggest that the predominant mutation in Japanese patients is a single-codon deletion at codon 708/709 in exon 17 (found in 73% of our patients) and differs from the most common mutation in US or UK patients.

Adolescent↗
PubMed1995

Quantitation of nucleotides, nucleosides and bases in antemortem and postmortem bloodstains by high-performance liquid chromatography.

Ante- and post-mortem bloodstains prepared from the blood of volunteers and corpses were analysed for ATP and its related compounds by reversed-phase high-performance liquid chromatography (HPLC). The results showed that (1) ATP was present in a large amount in antemortem bloodstains but not in postmortem stains, (2) AMP, adenosine, inosine, hypoxanthine, xanthine and uracil either were not detected or were detected in smaller amounts in antemortem than in postmortem bloodstains, and (3) ADP was present in both ante- and post-mortem bloodstains. These differences suggest that quantitation of these compounds may be useful in identifying whether bloodstains are ante- or post-mortem.

Blood Stains↗
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↗
PubMed1994

[A case of nemaline myopathy combined with recurrent rhabdomyolysis].

A four-year-old boy with cerebral palsy showed marked myoglobinemia and developed acute renal failure. Peritoneal dialysis and exchange transfusion resulted in saving the patient. He had a second episode of rhabdomyolysis after one month. Renal failure did not develop due to forced solute-alkaline diuresis therapy. Muscle biopsy revealed nemaline bodies by the Gomori trichome stain. Serum and muscle carnitine showed a marked decrease.

Acute Kidney Injury↗