Search PubMed⌕ Search

Biomedical subjects

M Owada

Publications and source records attributed to M Owada.

At least 55 records · Page 3Linked to original sources
PubMed1995

[Microsatellite polymorphism of muscle glycogen synthase gene and non-insulin dependent diabetes mellitus].

It has been reported recently that A2 allele of muscle glycogen synthase gene determined by Xba I RFLP (restriction fragment length polymorphism) is related to the frequency of NIDDM in Finland. Using PCR-RFLP analysis, we detected no A2 allele in Japanese patients with NIDDM and control. We found a new microsatellite of CA repeat in the human muscle glycogen synthase gene, and the polymorphism of the repeat number was detected by the polymerase chain reaction. Six different alleles were observed, indicating the highly polymorphic nature of this marker. We analyzed the repeat numbers and the genotypes in diabetics and control. The allele frequencies were not significantly different between NIDDM and control. However, the allele frequencies in the patients without high total cholesterolemia was significantly different from those of control. These findings suggest that the muscle glycogen synthase gene or neighboring genes are related to one of the disease genes of diabetes mellitus without high total cholesterolemia.

Adolescent↗
PubMed1995

Headache associated with aseptic meningeal reaction as clinical onset of Fabry's disease.

This report concerns an 18-year-old boy who is hemizygote for Fabry's disease. Varying degrees of nonpulsating headache crises, lasting from a few hours to several days, began when he was 16 years of age. Painful crises in the extremities, characteristic of Fabry's disease, were not present. Although only occasional, he had several episodes of throbbing headache with vomiting without aura. The meningeal signs were equivocal, although the patient had noninfectious pleocytosis, intracranial hypertension, delayed radioisotope clearance on cisternography, and multiple old cerebral infarcts. Nonsteroidal anti-inflammatory drugs, antidepressants, carbamazepine, and glycerol were of no benefit for his headache. Although its mode of action remains obscure, prednisolone was effective for treating the headache and the aseptic meningeal reaction.

Adolescent↗
PubMed1995

Serial changes in the prevalence of islet cell antibodies and islet cell antibody titer in children with IDDM of abrupt or slow onset.

OBJECTIVE: To elucidate the significance of clinical and immunogenic heterogeneity in Japanese children with insulin-dependent diabetes mellitus (IDDM). RESEARCH DESIGN AND METHODS: Serial changes in the prevalence of islet cell antibodies (ICAs) and in ICA titer were monitored for 10 years after diagnosis in 34 IDDM children, 17 with abrupt onset and 17 with slow onset, whose durations of disease were > 5 years. RESULTS: In slow-onset IDDM children, enough beta-cell function was maintained in the early phase of the disease within 2 years after diagnosis. There was a high prevalence of ICAs in children with both forms of IDDM at the time of diagnosis (abrupt onset 94%; slow onset 82%). However, the decline in the frequency of ICAs in slow-onset IDDM seemed less marked than in abrupt-onset IDDM after a duration of > or = 1 year (47 vs. 82%, 1-3 years; 24 vs. 47%, 3-5 years; 24 vs. 47%, 5-7 years; 18 vs. 53%, 7-10 years, P < 0.05). In terms of changes in ICA titer, abrupt-onset IDDM children initially had high ICA levels of 160-320 Juvenile Diabetes Foundation units (JDF U), but these titers decreased rapidly after the 1st year. On the other hand, slow-onset IDDM children tended to continue to be ICA+ for a relatively long period with low titers of 20-40 JDF U. Among 12 children who remained ICA+ for > 5 years, slow onset was noted in 67% while abrupt onset was seen in only 33%. CONCLUSIONS: From these results, we speculated that changes in ICA titer reflect the slow autoimmune destruction of pancreatic beta-cells. It may be probable that immunogenic factors as well as environmental factors could affect the clinical features in the early phase of IDDM in children.

Age of Onset↗
PubMed1995

[I-cell disease and pseudo-Hurler polydystrophy].

I-cell disease (ML II) and pseudo-Hurler poly-dystrophy (ML-III) are lysosomal storage diseases caused by abnormal lysosomal enzyme phosphorylation and localization. In both diseases, newly synthesized lysosomal enzymes are secreted into the extra-cellular medium instead of being targeted correctly to lysosomes. All cells and tissues of affected medium instead of being targeted correctly to lysosomes. All cells and tissues of affected patients are deficient in UDP-N-acetylglucosamine: lysosomal enzyme N-acetylglucosamine-1-phosphotransferase activity. However, we have demonstrated that liver cells from ML II patients have normal lysosomal enzyme contents. In Japan, ML II is a relatively common disorder whereas ML III is very rare as compared to Western Countries. The natural history of 21 cases with ML II, as well as 5 prenatally diagnosed cases of ML II, have been reported by our research group.

Female↗
PubMed1994

Epidemiology of type 1 (insulin-dependent) and type 2 (non-insulin-dependent) diabetes mellitus in Japanese children.

The overall annual IDDM incidence rates by area in Japan for 1985-1989 for children 0-14 years of age at diagnosis were from 1.65 to 2.07 per 100,000. The incidence in males and females did not show any temporal trends during the period between 1980 and 1989. The prevalence of IDDM was about 1 per 10,000. The clinical features at diagnosis among Japanese IDDM children identified during the 2-year period between 1979 and 1980 were as follows. Fourteen percent of the cases were in coma and 12% of the cases were asymptomatic at diagnosis. There is a suggestion that slow onset IDDM is often seen in Japan. In these children, the decline of serum CPR levels and the prevalence of ICA (islet cell antibodies) over the course of diabetes was slower than in those with an abrupt onset classical IDDM. During the period from 1975 through 1990 the incidence rates of NIDDM in school children showed as much as an approximate 1.5-fold increase along with a similar increase in the prevalence of obesity. About eighty percent of these NIDDM children were obese. A predominance of female children developing diabetes was seen in both type of diabetes, IDDM and NIDDM, in Japan. Non-obese type NIDDM in children was more common in females than in males. It is interesting to note that the mean height of Japanese children with IDDM was not different from the national average, but children with NIDDM were significantly taller than the national average.

Adolescent↗
PubMed1993

Prenatal monitoring of ornithine transcarbamoylase deficiency in two families by DNA analysis.

We examined the DNA in two families with ornithine transcarbamoylase (OTC) deficiency. Two point mutations of the OTC gene, a C-to-T (codon 141) and a G-to-A (codon 141), were identified. This allowed prenatal monitoring to be made for two fetuses in each family, using polymerase chain reaction (PCR), followed by allele-specific oligonucleotide hybridization or TaqI digestion of amplified sequence. The diagnoses showed heterozygotes of a wild type gene and the corresponding mutant gene in these fetuses; each was confirmed postnatally.

Amino Acid Sequence↗
PubMed1992

Hydrocephalus, corneal opacities, deafness, valvular heart disease, deformed toes and leptomeningeal fibrous thickening in adult siblings: a new syndrome associated with beta-glucocerebrosidase deficiency and a mosaic population of storage cells.

We describe three adult siblings with communicating hydrocephalus, corneal opacities, deafness, valvular heart disease, and deformed toes associated with glucosylceramide (glc-cer)-beta-glucosidase deficiency. The common manifestations of Gaucher disease were not evident. Supranuclear gaze palsies characteristic of type 3 were noted from early childhood, although the major signs were undeveloped until early adult life. Autopsy disclosed thickened leptomeninges with perivascular fibrosis, non-rheumatic calcified aortic and mitral stenosis with marked fibrosis, and mild infiltration of Gaucher cells in the reticuloendothelial organs. In contrast to the slight accumulation of glc-cer in the liver and spleen, the activity of glc-cer-beta-glucosidase was markedly decreased in the tissues, as much as in a patient with type 2 Gaucher disease. Common mutations were not found in the glucocerebrosidase gene.

Adult↗
PubMed1992

Type 3 GM1 gangliosidosis: characteristic MRI findings correlated with dystonia.

We describe three brothers with type 3 GM1 gangliosidosis presenting as dystonia. The ages of the patients when examined were 28, 31, and 33. They had developed dysarthria with facial grimacing since early childhood. The common neurological sign was generalized dystonia. Both dystonic postures and dystonic movements resulting from varying degrees of fixed rigidity of each muscle involved did not disappear when the patients were lying or sitting relaxed. There was no correlation between the severity of dystonia and the residual activities of acid beta-galactosidase. Magnetic resonance imaging (MRI) showed bilaterally symmetric high intensity lesions only in the putamen on T2-weighted and proton density images. Selective putaminal changes on MRI may be the lesions most responsible for symptomatic dystonia in this disorder.

Adult↗
PubMed1992

[Biochemical diagnosis and mass screening for hereditary amino acid disorders].

During the past 50 years, the development of both organic and analytical chemistry has greatly contributed to the discovery of new hereditary amino acid disorders. As a result, more than 80 new amino acid disorders have been discovered. More recently, the development of protein chemistry has made it easily to investigate the biochemical basis of these disorders. In this paper we present the status of biochemical diagnosis as well as mass-screening for amino acid disorders. The result of neonatal mass-screening for 4 amino acid disorders (PKU, MSUD, homocystinuria and histidinemia) from 1977 to 1990 revealed that the incidence of PKU is extremely rare in Japan when compared to European Countries, and the incidence of MSUD and homocystinuria are also less common in Japan. On the other hand, the incidence of histidinemia is higher in Japan than in Europe, however, a follow up study of more than 1,500 patients showed almost all cases developed normally without any dietary treatment.

Adolescent↗
PubMed1991

Autosomal recessive polycystic kidney in rats.

We evaluated the characteristics of renal lesions in rat autosomal recessive polycystic kidney (ARPK). In rat ARPK, small cysts appeared primarily in the medulla 2 months after birth and gradually extended to the cortex, forming large cysts involving the entire layer after 8 months. By immunofluorescence microscopy, type IV collagen was more strongly stained in the epithelial basement membrane of the rat ARPK than in the normal rat tubular basement membrane (TBM). Electron microscopy demonstrated a marked thickening, slight splitting and lamination of the TBM in the ARPK. As peroxidase-labeled lectins, dolichos biflorus very strongly stained the cyst epithelium whereas lens culinaris did not. These findings indicate that cysts in rat ARPK originate in the collecting duct.

Age Factors↗
PubMed1990

Descriptive epidemiology of non-insulin dependent diabetes mellitus detected by urine glucose screening in school children in Japan.

During the period from 1974 through 1988, we annually examined approximately 225,000 to 386,400 school children residing in Tokyo for glycosuria to detect juvenile diabetes. If the first test was positive for glucose, glycosuria was confirmed by a second test. In children who gave a positive result in both the first and second tests 0-GTT were performed. All 124 patients were diagnosed as NIDDM according to the criteria of the WHO Report on Diabetes of 1985. The incidence of NIDDM in children in Japan has increased in recent years and from 1984 to 1986 was approximately 3.8 per 100,000 per year. The frequency of NIDDM increases with age up to 14 years. In about 84% of cases, the body weight at diagnosis is more than 20% above the ideal weight and the height is often above average. There is a high frequency in families with a history of diabetes. Diet and exercise therapy in newly diagnosed patients irrespective of the presence or absence of obesity may result in remission, but some cases may require insulin therapy or oral administration of a hypoglycemic drug to obtain a better glycemic control. Children with NIDDM are more likely to be complicated by incipient retinopathy within two years after diagnosis than those with IDDM. Therefore, it is important to keep strict glycemic control to prevent diabetic complications in NIDDM children just as in juvenile onset IDDM.

Adolescent↗