[A case of homocystinuria missed by the newborn screening].
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Biomedical subjects
Publications and source records attributed to E Takeda.
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The survival rate is used as a criterion in evaluation of cancer treatment. This paper describes several view of various calculating methods for the survival rate by using a computer filing system of patients' records of cancer therapy as follow; Crude survival rate should not be used in usual follow-up study, if possible, because different results obtained from different determination for right censored cases. In case of value of the life table method or relative survival rate changed in short terms, re-computation by the more short interval (for example, from yearly monthly) must be analyzed for the reason of the quick exchange. According with improvement of the survival rate of cancer therapy, it is important to remark for the complication of normal tissues by radiation therapy at the end of treatment and during follow-up observation. Therefore, we proposed a new concept which is named "Cumulative effective survival rate" and is calculated by multiplying the average of cumulative weighted factors of complications of various normal tissues to the relative survival rate.
The fructose 1,6-diphosphatase activities in peripheral lymphocytes from the parents of a patient with fructose 1,6-diphosphatase deficiency were lower than the mean value of normal controls, but the value of the mother overlapped lower values for normal controls. The fructose 1,6-diphosphatase activities in lymphocytes of normal adults and the parents increased progressively during in vitro culture, but no enzyme activity could be detected in the lymphocytes of the patient even after culture. None of the values for the parents overlapped those of normal controls on either day 5 or 10 of culture. Thus, it seems probable that heterozygotes for fructose 1,6-diphosphatase deficiency can be distinguished from normal individuals by measuring the fructose 1,6-diphosphatase activity in their cultured lymphocytes.
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The activities of CDP reductase and thymidine kinase in 10(6) to 5 X 10(6) phytohemagglutinin (PHA)-stimulated lymphocytes isolated from 2 to 5 ml of peripheral blood of individual subjects were measured. The activities of CDP reductase (pmol/h/10(7) cells) and thymidine kinase (nmol/h/10(7) cells) were high in infants, 698 +/- 307 and 64.2 +/- 20.2, constant in subjects of 1-40 years old, 401 +/- 181 and 38.1 +/- 15.3, and low in persons of more than 80 years old, 121 +/- 113 and 22.3 +/- 17.8, respectively. The ratio of thymidine kinase to CDP reductase activity increased with age, indicating that dependency on the salvage pathway of DNA synthesis in lymphocytes increased with age. The activities of CDP reductase and thymidine kinase were reduced in patients with the hyperimmunoglobulin E syndrome, congenital cytomegalovirus infection, anhidrotic ectodermal dysplasia with hyperimmunoglobulin A, Bloom's syndrome, immunodeficiency with hyperimmunoglobulinemia, and Down's syndrome. The clinical symptoms of these diseases seem to be due to impaired DNA synthesis of PHA-stimulated lymphocytes, but the degrees of reduction of enzyme activities were generally greater than that of thymidine incorporation in these patients.
The effects of dichloroacetate (DCA) on the activity of the pyruvate dehydrogenase (PDH) complex and associated changes in the lactate and glucose levels in rat brain were investigated in vivo. The average activities of the active form of the PDH complex in the brain, liver and muscle of starved rats were respectively 0.40 +/- 0.04, 0.07 +/- 0.04, and 0.17 +/- 0.11 mumol/min/g tissue, and amounted to 21, 11, and 16% of the total activity of the complex. Intraperitoneal injection of DCA (125 mg/kg) increased the percentage of the active form of the PDH complex in the brain, liver, and muscle to 107, 40, and 84%, respectively. DCA significantly lowered the lactate and glucose concentrations of the brain and blood. A lower dose of DCA (12.5 mg/kg) also caused significant increase in activity of the PDH complex in the brain, but did not significantly change the lactate or glucose concentration of the brain. These results suggest that DCA crosses the blood-brain barrier reasonably well.
The activities of ribonucleotide reductase and thymidine kinase, and the thymidine incorporation rate were measured in 16 cultured human hematologic malignant cell lines with different cell proliferation rates. Thymidine kinase activity was significantly higher in myeloid and monocytoid cell lines than in other cell lines, but ribonucleotide reductase activity presented as CDP reductase activity was similar in the different cell lines. The ratio of thymidine kinase to CDP reductase activity was high in monocytoid cell lines. A close correlation was found between the cell proliferation rate and CDP reductase activity, but not thymidine kinase activity or the thymidine incorporation rate. The ratio of thymidine kinase to CDP reductase activity was high in slowly growing cell lines and low in rapidly growing cell lines. These results indicate that in cultured human malignant cells a high potential for proliferation may depend mainly on the de novo pyrimidine pathway of DNA biosynthesis.
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An 8-year-old girl with partial ornithine carbamoyl transferase deficiency was treated with sodium benzoate (200 mg/kg/day) for 13 months. Before administration of sodium benzoate, her protein intake was reduced to 1.0 to 1.5 g/kg/day and her caloric intake fluctuated. Hyperammonemic attacks were frequently observed in winter. After the start of administration of sodium benzoate, the severity and frequency of these attacks decreased, although her protein intake was increased to 1.5 to 2.0 g/kg/day. No adverse effect of sodium benzoate were detected by clinical and laboratory examinations. It is concluded that long-term oral administration of sodium benzoate was effective in reducing the frequency and severity of hyperammonemic attacks in this patient. Sodium benzoate therapy in combination with dietary manipulation may improve the growth and development of these patients by allowing reduced dietary protein restriction.
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This report describes a computer filing and retrieval system for patient records of uterine cervix cancer which contain a secondary status after first treatment necessitated by residual primary tumor, recurrence after 6 months or more, and metastasis. In 2 working sheets are entered registration number and birth-data, first therapy method, secondary status, topographic locations of recurrence and metastasis, policy and outcome at 5 years after secondary treatment. This information was entered in the computer filing system. The records of 549 patients who were treated between 1961 and 1976, were loaded in to the disk file and magnetic tape of our computer. The 5-year cumulative survival rate of the total cases was 11.7% (1.4% standard error); it was 26.9% (S.E. = 4.4%) for patients that had undergone primary surgery. We found that the longer the interval between first therapy and recurrence, the better was the 5-year survival after secondary treatment (mainly radiotherapy). We conclude that long-term follow-up study is important in patients with uterine cervix cancer, because our 28 cases with recurrence (10% of total cases), were found more than 4-years after the first therapy.
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