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Biomedical subjects

O Fujino

Publications and source records attributed to O Fujino.

14 recordsLinked to original sources
PubMed1996

Coexistence of gene mutations causing Fabry disease and Duchenne muscular dystrophy in a Japanese boy.

Both Fabry disease and Duchenne muscular dystrophy were confirmed by gene analysis in a Japanese boy. He developed muscle weakness at 4 years of age. A muscle biopsy revealed lamellar inclusion bodies in vascular endothelial cells in addition to myopathic changes with negative dystrophin staining. The myopathic symptoms progressed, and he died of pneumonia at 24 years of age. No clinical manifestations of Fabry disease were observed except for hypohidrosis and angiokeratoma. However, glycolipid accumulation was found in biopsied renal tissue. Molecular analysis demonstrated two gene mutations; a novel single-base deletion in exon 3 of the alpha-galactosidase gene, and a dystrophin gene deletion extending from exon 46 to exon 50. His mother was confirmed to be heterozygous for both gene deletions.

Adult↗
PubMed1996

[Epileptic vertiginous seizure in a Japanese boy: a case report].

Dizziness in childhood is not an infrequent symptom, but epileptic vertigo is a rare condition in children. Here we report an 8-year-old Japanese boy with epileptic vertiginous seizures. At age 8 years, he visited Nippon Medical School Hospital because of a ten day history of dizziness. The dizziness occurred more than twenty times a day and he was hospitalized. On physical examination, the patient appeared normal and there were no abnormal neurological findings, including eye movement and cerebellar signs. Ophthalmoscopy, otoscopy, vestibular function test and hearing test were normal. Computerized tomography scanning and MR imaging of the head revealed no significant abnormality. The dizziness observed on admission comprised sudden brief attacks of rotatory sensation without amnesia regarding the event. Sometimes the attacks were accompanied by tremor like movement and numbness of the right hand, followed by postictal unsteadiness. Interictal EEG revealed spike-and-wave complexes in the central region dominantly in the light sleep stage. On ictal EEG, seizure discharges were observed to begin in the left central region and they increased in amplitude and subsequently propagated to the frontal and occipital regions. These findings were most suggestive of partial seizures. The patient was treated with carbamazepine and the seizures became well under control.

Anticonvulsants↗
PubMed1994

Mitochondrial myopathy with progressive decrease in mitochondrial tRNA(Leu)(UUR) mutant genomes.

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.

Adult↗
PubMed1992

Replacement therapy in a patient with congenital prekallikrein deficiency undergoing surgery.

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.

Blood Transfusion↗
PubMed1992

[Prophylaxis of thrombosis in a pregnant woman with congenital antithrombin III deficiency: changes in hemostatic molecular markers before the onset of thrombosis].

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.

Adult↗
PubMed1990

[A clinicopharmacological study of serum sodium valproate free level in children with epilepsy].

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.

Adolescent↗
PubMed1979

[Coprecipitation of rare earth elements with hydroxyapatite (author's transl)].

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.

Cerium↗
PubMedDate not supplied

Clinico-neuropathological study of incontinentia pigmenti achromians--an autopsy case.

A clinico-neuropathological study of a Japanese girl with hypomelanosis of Ito, one of the neurocutaneous syndromes, is reported. At birth, typical skin hypopigmentation on the trunk and a hypopigmented streak on the left lower extremity were noted. From 2 months of age, intractable convulsions occurred and EEG showed various abnormalities. Psychomotor development was severely retarded and she died of pneumonia at the age of 13 months. Neuropathological examination revealed brachycephaly, micropolygyria and asymmetry of lateral ventricles. A histological examination showed a disarray of cortical lamination, and the existence of nerve cells in the white matter. These pathological findings showed a migration anomaly during brain maturation.

Autopsy↗
PubMedDate not supplied

Successful delivery in a case of essential athrombia.

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.

Adult↗