[Case of acute rhabdomyolysis caused by maintaining the same limb position for an extended period].
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Biomedical subjects
Publications and source records attributed to O Fujino.
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A female patient with mitochondrial myopathy had a mitochondrial DNA mutation at nucleotide pair 3243, commonly seen in patients with mitochondrial myopathy, encephalopathy, lactic acidosis, and strokelike episodes (MELAS), but unlike MELAS patients, she had no central nervous system symptoms. Muscle weakness, which was most severe when she was 7 years old, improved gradually with age. Comparison of two muscle biopsies obtained at an interval of 12.5 years (7 and 20 years of age, respectively), revealed that the number of ragged-red fibers was markedly decreased and histochemical cytochrome c oxidase activity increased in parallel with the decrease in population of mutant genomes.
A patient with congenital prekallikrein (PK) deficiency underwent left endonasal radical ethmoidectomy and nasal polypectomy after receiving a transfusion of 6 ml/kg body weight of fresh frozen plasma (FFP). His plasma PK activity was under 1% before transfusion, and 46% after transfusion. The patient had no bleeding tendency during operation, but bled extensively from the wound 7 days after operation. At that time, his plasma PK activity was 3%. Since the bleeding could not be stopped simply by plugging his nasal cavities with tampons, he was given 3 ml/kg body weight of FFP. As a result, his nasal bleeding rapidly decreased. No clinical sign of thrombotic complication was observed throughout the clinical course.
A pregnant woman with congenital antithrombin III (AT III) deficiency was given AT III concentrate and warfarin at the first and after 36th week of gestation periods and at the other gestation period, respectively. The patient developed thrombosis in the left leg, but fibrinopeptide A (FPA) and thrombin-AT III complex (TAT) had already shown high values one week before, suggesting the possibility of their being forecast markers of thrombosis. The administration of AT III concentrate caused an improvement in thrombosis. Therefore, in case of high FPA and TAT values as determined one or two times a week, the administration of AT III concentrate was thought necessary. In case of warfarin, however, non-administration during the 6th-9th weeks of gestation for the purpose of avoiding teratogenicity and frequent blood coagulation tests taking heed of overdosage for the purpose of avoiding fetal central nervous system abnormalities were suggested necessary. Delivery was uneventful, both mother and child being doing very well; umbilical blood AT III activity was 18%. It is generally difficult for us to form the diagnosis as AT III deficiency only from AT III activity at neonatal stage, but in the present study, we analyzed the restriction fragment length polymorphism of the AT III gene using umbilical blood, and succeeded in diagnosing the neonatal child as AT III deficiency.
The VPA total level (T value), the free level (F value), and the free fraction (FF) were measured in 74 epileptic children under valproic acid (VPA) monotherapy. The relationship between the T value, blood collection time, therapy duration, serum free fatty acid, clinical features, F value and FF were then studied. Blood was taken either before the morning (pre-breakfast) administration of medicine (Cmin), 2-3 hours after the post-breakfast administration (Cmax), or both. The subjects were divided into one Cmin. and one Cmax. group. The results of serum VPA measurement revealed that T values in the Cmin. group ranged from 23.0 micrograms/ml to 113.0 micrograms/ml (average: 50.0 +/- 16.2 micrograms/ml), F values from 2.0 micrograms/ml to 16.0 micrograms/ml (6.0 +/- 2.7 micrograms/ml) and FF from 5.9% to 21.7% (11.8 +/- 3.8%). In the Cmax. group, T values ranged from 41.0 micrograms/ml to 163.0 micrograms/ml (80.5 +/- 24.3 micrograms/ml), F values from 3.7 micrograms/ml to 22.8 micrograms/ml (10.0 +/- 4.2 micrograms/ml) and FF from 7.1% to 22.2% (12.2 +/- 3.3%). There was no difference in FF between the two groups. In both groups, T and F values significantly and positively correlated and FF was not affected by age or VPA therapy duration. However, FF varied in the early stage of medication. In individual cases with no seizures and receiving constant doses, the longer the period of medication, the greater the decrease in FF. Although free fatty acid was concurrently measured in some cases, it did not correlate with the F value or the FF. In 45 cases, changes in the FF were followed in both groups on the same day, but no general tendencies were noted. Diurnal fluctuation was studied in 4 cases. Significance of the clinical features was evaluated. The subjects were then classified by seizure type for group comparison and no differences in the FF among the different types were observed. During the follow-up period, 5 cases had seizures, but when their serum levels were compared with those of members of both groups, the T values did not differ. The F values and the FF in the 5 cases were below the mean values of the two groups. These findings suggest that when factors affecting VPA protein binding are expected to be present or when seizures cannot be controlled despite a sufficient T value in the blood, the F value measurement is of particular importance.
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The distribution behavior of trace rare earth elements between an aqueous phase and hydroxyapatite crystals was investigated. The apatite prepared by adding phosphate ion extremely slowly to an aqueous solution containing calcium, rare earth elements, ethylenediamine and nitrilotriacetate ion at 80 degrees C. Apparently the coprecipitation reaction seems to be anomalous, because the apparent distribution coefficient did not have a constant value through the reaction. But when the true distribution coefficient was calculated by using the thermodynamic data at 80 degrees C, it was revealed that rare earth ions were coprecipitated obeying logarithmic distribution law. The true distribution coefficient values of tervalent yttrium, scandium, europium and cerium ions were about 10(7.3), 10(9.8), 10(7.4) and 10(6.5), respectively.
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A successful delivery in a 26-year-old Japanese woman with essential athrombia was reported. A diagnosis of essential athrombia was made by clinical and laboratory features including bleeding tendency, prolonged bleeding time, normal platelet count, normal clot retraction and impaired platelet aggregation induced by ADP. Since the presentation was a frank breech at the end of the 39th week of pregnancy, cesarean section delivery was performed under good hemostatic control with transfusion of 7.3 x 10(11) platelets. No hemorrhagic complication was observed during the puerperium.