Biomedical subjects

T Okumiya

Publications and source records attributed to T Okumiya.

27 records · Page 2Linked to original sources

PubMed1995

[Fabry disease (alpha-galactosidase deficiency)].

Fabry disease is an X-linked glycosphingolipid storage disorder resulting from a deficiency of lysosomal alpha-galactosidase (alpha-Gal; EC 3.2.1.22). Classical form patients, with clinical manifestations of generalized angiopathy of early onset, usually show no detectable alpha-Gal activity. There are also atypical form patients with residual alpha-Gal activity and late onset cardiomyopathy without other systemic manifestations. We identified a number of alpha-Gal gene mutations including partial deletions and point mutations. They were heterogeneous and more than half of them were missense mutations. Various missense mutants were expressed in COS-1 cells. Two groups have been identified; one expressing a mutant enzyme without catalytic activity, and the other expressing a catalytically active but unstable mutant enzyme. The latter was restored in patient cells by the addition of substrate analogues. The molecular genetic and biochemical analysis for Fabry disease will provide us with significant informations on the pathogenesis and the possibility of the therapeutic approach for this disease.

Analgesics, Non-Narcotic↗

PubMed1992

[Clinical usefulness of measurement of creatine contents in human erythrocytes as an index of erythropoiesis].

The apparent half-life of erythrocytes in human blood have usually been measured using 51Cr or 32P-labeled erythrocytes. However, these methods are not suitable for routine methods for the determination of the half-life of erythrocytes because of requirement for both patient admission and complicated procedure. In 1967 Griffiths and Fitzpatrick suggested that creatine level in human packed erythrocytes reflected the mean-age of erythrocyte population. Fehr and Knob reported that erythrocyte creatine levels correlated closely with half-life of erythrocytes by means of 51Cr in severe and milder hemolytic anemias. In order to verify the clinical usefulness of measurement of creatine contents in human erythrocytes as an index of erythropoiesis, the number of reticulocytes counted by an automated reticulocyte counter (R-3000, Toa medical instruments) and creatine contents in erythrocytes measured by high performance liquid chromatography were compared. To evaluate the erythropoietic dynamics, we tried to determine the frequency distribution for individual erythrocyte cell age using erythrocyte creatine. The effect of erythrocyte life-span on hemoglobin A1c(HbA1c) was also appraised in normal blood sugar subjects. A significant increase (p less than 0.005) of erythrocyte creatine was found both in inactive autoimmune hemolytic anemia (AIHA) and in active AIHA. In severe AIHA, the frequency distribution of erythrocyte creatine shifted to the area of high level erythrocyte creatine, and showed a broad-pattern form corresponding to erythropoiesis. Negative correlation (r = -0.707, p less than 0.005) was revealed between erythrocyte creatine and HbA1c in normal blood sugar subjects.(ABSTRACT TRUNCATED AT 250 WORDS)

Adult↗

PubMed1992

[A study on creatine uptake into human erythrocytes: relation to erythrocyte aging].

In order to assess the relation between creatine uptake into human erythrocytes and erythrocyte aging, actual influx of creatine into erythrocytes and creatine contents in erythrocytes were measured by using method of high performance liquid chromatography and isotopic estimation of 14C-creatine concentration. Actual influx of creatine into erythrocytes was showed rapidly, in spite of constant contents of erythrocyte creatine under the condition to be incubated at 37 degrees C for approximate 4 hours in isotonic saline containing high concentration of creatine. Km values of the creatine uptake into young erythrocytes were evidently smaller than that into old erythrocytes. On the other hand, no significant difference of Vmax values was observed to be dependent on erythrocyte aging.

Creatine↗

PubMed1990

Assessment of bilirubin clearance capacity of a newly developed ion-exchange adsorption column and its possible use as a supportive therapy in hepatorenal syndrome.

We assessed the bilirubin reduction capacity of three different types of devices in vitro: a high-permeable membrane column for double-filtration plasmapheresis (DFP) (Evaflux 2A, Kuraray, Japan), and non-coated charcoal column for hemoperfusion (HP) (N-180, Asahi Medical, Japan), and ion-exchange columns for plasma adsorption (PA) (BR-350, Asahi Medical, Japan, and B-001, Kuraray, Japan). A column for DFP reduced the concentration of low-molecular proteins effectively such as plasma bilirubin and bile acids in an albumin-dependent manner. A charcoal column adsorbed low-molecular substances preferentially. But in these two columns, the loss of fibrinogen is a limiting factor for determining the processing plasma volume. Ion-exchange columns for PA adsorbed bile acids, disconjugated bilirubin, and monoconjugated bilirubin more efficiently compared with delta-bilirubin and unconjugated bilirubin. Pretreatment of the column with heparin reduced the loss of fibrinogen to less than 10%. We applied the BR-350 ion-exchange column in vivo for treatment of three patients with hyperbilirubinemia. After treatment, an alcoholic hepatitis patient with the hepatorenal syndrome (HRS) recovered from acute renal failure. However, in a patient with primary biliary cirrhosis and in a patient with fulminant hepatitis, the decrease of serum bilirubin was transient and no obvious beneficial responses were noted. The capacity and ability of the BR-350 column to adsorb plasma bilirubin was shown sufficient to treat deeply jaundiced patients, because 4 liters of the plasma of a patient with 108 mg/dl of initial total bilirubin concentration was able to be processed continuously without an obvious decrease in bilirubin adsorption capacity.(ABSTRACT TRUNCATED AT 250 WORDS)

Adsorption↗

PubMed1989

[A colorimetric method for determination of delta-bilirubin in serum using bilirubin oxidase (Trachyderma tsunodae)].

We developed a colorimetric method to measure delta-Bilirubin in human serum using bilirubin oxidase from Trachyderma tsunodae and diazo reagent. In the first step, bilirubin fractions except for delta-Bilirubin, such as diconjugated, monoconjugated and unconjugated forms, are removed by enzymatic oxidation at pH 8.0 in the presence of sodium salicylate. In the second step, delta-Bilirubin remaining after enzymatic oxidation is determined by the conventional indirect diazo method. The results obtained by this method showed intra-day CV of 2.4%, satisfactory linearity and good correlation (r = 0.93, p less than 0.001) with those obtained by high performance liquid chromatography method. This simple and rapid method was clinical useful for determining the bilirubin fractions in sera of hepatic patients.

Basidiomycota↗

PubMed1989