Recent trend toward decrease in the incidence of childhood type 2 diabetes in Tokyo.
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Adolescent↗
Biomedical subjects
Misao Owada
Publications and source records attributed to Misao Owada.
[Magnetic resonance imaging of the brain in phenylketonuria].
To investigate the correlation between the abnormalities of magnetic resonance imaging (MRI) of the brain and blood phenylalanine (Phe) levels in phenylketonuria (PKU) and hyperphenylalaninemia (HPA), we reviewed MRIs from 16 patients with early treated PKU and HPA. Their ages ranged from 4-24 years and were found by mass screening and treated from early infancy, and 5 patients with late detected PKU who were aged 24-33 years. The former patients had no remarkable neurological signs or symptoms. One patient of the latter had severe mental retardation and 3 patients had mild to border mental retardation. Axial T1-weighted and T2-weighted spin echo sequences, fluid attenuated inversion recovery MR sequences (FLAIR) through the brain were performed. The scans were graded according to the extent of increased signal intensity of white matter on T2-weighted and FLAIR sequences. To investigate the influence of plasma Phe levels, three approaches were used. Firstly an average of all yearly serial blood Phe concentration was calculated for each patient, then Phe was determined for a period of 6 months and 12 months prior to MRI, and also for their lifetime up to their age at the time this study began. These average blood Phe levels were classified into four categories: group A:Phe level below 5 mg/dl, group B:5-8 mg/dl, group C:9-12 mg/dl, group D:above 12 mg/dl. MRI findings were not significant in group A. Remarkable high signals of white matter were obtained in group C and D, except for one patient in group D whose MRI finding was normal. MRI findings correlated to long-term dietary control stronger than those of 6 months prior to MRI. The clinical significance of MRI abnormalities is still unclear, and further study is required to clarify the relationship of the MRI findings and clinical conditions.
Adolescent↗
Non-invasive screening method for Fabry disease by measuring globotriaosylceramide in whole urine samples using tandem mass spectrometry.
Fabry disease is an X-linked sphingolipidosis due to a deficiency of alpha-galactosidase A, which leads to the accumulation of globotriaosylceramide (GL-3) in several organs. When recombinant human alpha-galactosidase A is intravenously administered repeatedly before the patient develops permanent tissue damage, there is evidence that the accumulation of GL-3 is decreased in some organs and that the clinical symptoms are alleviated in some patients. However, Fabry disease is rare and many patients are not diagnosed until adulthood after irreversible tissue damage has occurred. Our group has developed a simple and non-invasive screening method for Fabry disease that measures total GL-3 in whole urine samples by tandem mass spectrometry. Using this method, we found that the concentration of GL-3 in whole urine sample from hemizygous patients, including pre-symptomatic young children with classic type Fabry disease, was significantly higher than that in controls. The mean concentration of GL-3 in urine from heterozygotes with symptoms was significantly higher than control concentrations, but GL-3 levels in the urine from 2 out of 8 heterozygotes of classic type Fabry disease were within control levels. An asymptomatic 14-year old hemizygote in the family of a cardiac variant did not have elevated urinary GL-3. Therefore, screening for the classic type and probably renal variant of Fabry disease is possible by measuring urinary GL-3, using our method. The early diagnosis of cardiac variant hemizygotes and some heterozygotes with all types of Fabry disease will not be possible using our method. We propose that this procedure can be used as a reliable, non-invasive, simple method for general and high-risk population screening for hemizygotic patients with the classic type and probably renal variant of Fabry disease.
Adolescent↗
Early onset distal muscular dystrophy with normal dysferlin expression.
A 7-year-old boy, who was noted to be a slow runner at the age of 2 years, had progressive muscle weakness and atrophy, preferentially affecting distal muscles. At 3 years of age, he had scoliosis and difficulty in standing on tip-toe. Serum creatine kinase was 1074IU/l. Muscle CT scan showed low-density areas in the lower legs and upper arms, but predominantly in the gastrocnemius and soleus muscles. Biopsy of the biceps brachii muscle showed moderate dystrophic changes with normal dysferlin expression on immunohistochemical and western blot analyses. Although muscle involvement mimicked that seen in Miyoshi myopathy (MM), the very early onset of the disease and scoliosis were quite unusual for MM. We, therefore, made the diagnosis of early onset dysferlin-positive distal muscular dystrophy, probably a new type of distal muscular dystrophy.
Age of Onset↗
Optimal use of quick-acting insulin analogue in combination with basal insulin and its long-term effect in Japanese children and adolescents with type 1 diabetes.
The aim of the study was to examine the optimal use of quick-acting insulin analogue (Q) switching from regular insulin (R) in combination with basal insulin and its long-term effects in 40 Japanese children and adolescents with type 1 diabetes. Insulin regimens after administration of Q were increased to twice daily injections of basal insulin and modified use of Q or R as bolus insulin depending on the blood glucose profile and lifestyles. The mean dose of total insulin remained unchanged during treatment with using Q, but that of basal insulin increased 12 months after the use of Q (baseline: 25.8 +/- 12.2, after 12 months: 27.1 +/- 12.6 U/day). After switching to Q, the mean HbA1c value decreased in all patients (baseline: 7.6 +/- 1.0, after 12 months: 7.3 +/- 0.8%), which reflected improvement of HbA1c in patients with HbA1c > or = 8% at baseline. These results indicated that insulin regimens after switching from R to Q varied with increases of the number and the dosage of basal insulin. Use of Q seems to be useful to improve hyperglycemia in patients with a poor glucose profile under conventional insulin treatment with using R. The choice of insulin regimens with using Q in consideration of the blood glucose profile as well as lifestyles may lead to better glycemic control.
Adolescent↗
Markers associated with inborn errors of metabolism of branched-chain amino acids and their relevance to upper levels of intake in healthy people: an implication from clinical and molecular investigations on maple syrup urine disease.
Maple syrup urine disease (MSUD) is caused by a deficiency in the branched-chain alpha-ketoacid dehydrogenase complex. Accumulations of branched-chain amino acids (BCAAs) and branched-chain alpha-ketoacids (BCKAs) in patients with MSUD induce ketoacidosis, neurological disorders, and developmental disturbance. BCAAs and BCKAs influence on the nervous system can be estimated by analyzing these patients. According to clinical investigations on MSUD patients, leucine levels over 400 micromol/L apparently can cause any clinical problem derived from impaired function of the central nervous system. Damage to neuronal cells found in MSUD patients are presumably because of higher concentrations of both blood BCAAs or BCKAs, especially alpha-ketoisocapronic acids. These clinical data from MSUD patients provide a valuable basis on understanding leucine toxicity in the normal subject.
3-Methyl-2-Oxobutanoate Dehydrogenase (Lipoamide)↗
Usefulness of the addition of metformin to insulin in pediatric patients with type 1 diabetes mellitus.
BACKGROUND: The aim of this study was to evaluate the effect of metformin in addition to insulin therapy in adolescents and young adults with type 1 diabetes mellitus. METHODS: Nine patients, two males and seven females, aged 18.1 +/- 3.0 years, with type 1 diabetes mellitus were studied. They were relatively overweight with a body mass index (BMI) of 24.2 +/- 1.8 and had high levels of HbA1c at 9.5 +/- 1.2% despite high doses of insulin of 74.0 +/- 31.2 U/day. Metformin at the dose of 500-750 mg daily was administered to the patients in addition to insulin therapy for 1 year. RESULTS: HbA1c, BMI and insulin dose were compared before 1 year without metformin therapy, at baseline, and at 3, 6 and 12 months during the use of metformin in addition to insulin therapy. HbA1c lowered (8.6 +/- 1.4**, 8.4 +/- 1.3**, 8.4 +/- 1.2*%), BMI was reduced (23.9 +/- 1.7*, 23.8 +/- 1.8, 23.5 +/- 1.8*), and insulin requirement decreased (69.8 +/- 29.7*, 68.7 +/- 29.8**, 67.3 +/- 29.1**U/d) significantly after the start of metformin therapy (*P < 0.05, **P < 0.01 vs at baseline). There were no adverse events, not even lactic acidosis, during the study period. CONCLUSION: Metformin is safe and may represent a useful adjunct to the management of type 1 diabetes mellitus in adolescents and young adults who have poor glycemic control despite a large amount of insulin.
Adolescent↗
Annual incidence and clinical characteristics of type 2 diabetes in children as detected by urine glucose screening in the Tokyo metropolitan area.
OBJECTIVE: This study investigates the annual incidence and clinical characteristics of type 2 diabetes among school-aged children as detected by urine glucose screening from 1974 to 2002 in the Tokyo metropolitan area. RESEARCH DESIGN AND METHODS: In total, 8,812,356 school children were examined for glucosuria. Morning urine was used for the analysis. When the urine was positive for glucose, an oral glucose tolerance test was carried out to confirm diabetes. RESULTS: In all, 232 students were identified to have type 2 diabetes. The overall annual incidence of type 2 diabetes was 2.63/100,000. The annual incidence after 1981 was significantly higher than that before 1980 (1.73 vs. 2.76/100,000, P < 0.0001). The annual incidence was significantly higher for junior high school students compared with primary school students (0.78 vs. 6.43/100,000, P < 0.0001). The overall male-to-female ratio of students with type 2 diabetes was 1.0:1.19 (P = 0.296), but it was 1.0:1.56 (P = 0.278) for primary school students. Overall, 83.4% of children with diabetes were obese (> or = 20% overweight). However, nonobese girls (<20% overweight) with diabetes accounted for 23.0% of the patients, whereas markedly obese boys (> or = 40% overweight) accounted for 61.5% of the patients. The frequency of a family history of type 2 diabetes in second- and first-degree relatives was 56.5%. CONCLUSIONS: We confirmed that the incidence of young people with type 2 diabetes increased after 1981 in the Tokyo metropolitan area. The increase in the frequency of this disorder seemed to be strongly related to an increasing prevalence of obesity. Age and genetic susceptibility may be associated with the occurrence of type 2 diabetes.
Adolescent↗
Novel missense mutation in the purine nucleoside phosphorylase gene in a Japanese patient with purine nucleoside phosphorylase deficiency.
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Child↗
Mass screening for Wilson's disease by measuring urinary holoceruloplasmin.
We conducted a mass-screening method to detect presymptomatic Wilson's disease in children by measuring urinary holoceruloplasmin. Two cases of Wilson's disease were found by testing urine samples from 48,819 children. The diagnosis was confirmed by clinical laboratory tests and the detection of a mutated ATP 7B gene.
Adolescent↗
A subtype of markedly abrupt onset with absolute insulin deficiency in idiopathic type 1 diabetes in Japanese children.
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Age of Onset↗