[Evaluation of ionized calcium--first report].
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Biomedical subjects
Publications and source records attributed to I Matsuda.
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Skin histidase activities and urine formiminoglutamic acid (FIGLU) levels were measured in 20 patients with histidinemia, identified by Guthrie's screening method, and their family members as well as control subjects. There was a significant positive correlation between skin histidase activities and the amounts of urine FIGLU. Although the difference of skin histidase activity and the amount of urinary FIGLU was significant between any two of the three groups (i.e. controls, parents and patients; p less than 0.005), these levels ranged widely and a considerable number of the cases overlapped among groups. When a discriminant function was computed to obtain the minimum probability of misclassification between the groups using the above two parameters, a better segregation was observed. However, even though the number of misclassifications decreased, the overlapping cases were still present, especially between the parent and patient groups. It is concluded that either skin histidase activity, urine FIGLU, or both, can be used as genetic markers of the disease to a large but still limited extent.
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The zinc (Zn) content of commercially available formula milks in Japan is less than that of breast milk obtained during the first three months of lactation, but is similar to that at five months of lactation. The copper (Cu) content of the formula milks is much lower than that of breast milk obtained during the five months. These two trace elements were measured in serum (at birth, one, three, and five months of age), hair (at birth and at five months of age) and urine (at one, three and five months of age) of twenty-one breast fed and twenty formula fed full term infants. Despite the differences in Zn and Cu intakes, these parameters were similar in these two infant groups, except for urinary Zn at one and three months of age. These were significantly higher in breast fed infants (P less than 0.005 and P less than 0.05). Weight and length increments were not different in either infant group. It appeared that normal, full term infants tolerated low-content Zn and Cu formula milks well. This observation, however, is not at variance with the FAO/WHO recommendation for prevention of Zn and Cu deficiency.
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A case of superior sagittal sinus thrombosis followed by a subdrual hematoma is reported. A 33-year-old woman, who presented with serious neurological deficits, made a remarkable recovery with mild residual. She had a thin subdural fluid collection, which eventually developed into a subdural hematoma. After evacuation of the hematoma, she had no neurological deficits. Treatment of cerebral venous and dural sinus thrombosis is discussed.
Plasma carnitine and blood ammonia concentrations were measured in 25 severely handicapped patients, ages 3 to 21 years, and 27 age-matched control subjects. Fourteen of the handicapped patients were treated with anticonvulsant drugs including valproic acid; the remaining 11 patients were treated with drugs excluding valproic acid. Plasma carnitine concentrations were lower and blood ammonia values were higher in patients treated with valproic acid than in the untreated patients and control subjects. A significant inverse relationship was found between plasma carnitine concentrations and the dosage of valproic acid, and between plasma carnitine and blood ammonia values. After oral administration of D,L-carnitine (50 mg/kg/day) for four weeks, both carnitine deficiency and hyperammonemia were corrected.
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The treatment with xanthine oxidase inhibitor, allopurinol, was evaluated in 17 patients with Duchenne muscular dystrophy (aged 2 years 9 months to 13 years 9 months) using the double blind technique. The total observed period was 27 months. The results of 100-point scale of graded functional abilities revealed that an improvement, unchange and progression of dysfunction were found in 2, 2 and 6 patients, respectively, in allopurinol group and in 0, 2 and 5 patients, respectively in placebo group. The patients' age and stage of the disease seemed to be related to the effectiveness or allopurinol treatment.
A sural nerve obtained three hours after death from a patient with hypertyrosinemia due to 4-hydroxyphenylpyruvic acid oxidase deficiency was examined. The diameter of the myelinated fibers, as seen on the histogram, was similar to those in an age matched control. However, the number of smaller fibers was greater. Electron-microscopically, the findings of de- and hypomyelination were noted, and occasional dense bodies and multimembranous bodies were seen in some axoplasms. Since his mother was also suffering from hypertyrosinemia, the serum tyrosine level during the fetal and newborn infant periods seemed to be constantly elevated, which may have caused the abnormalities of nerve fibers observed in the present case.
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