[Arterial switch operation for transposition of the great arteries with intact interventricular septum].
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Biomedical subjects
Publications and source records attributed to T Kamiya.
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We have investigated genomic DNA samples of 24 patients with hemophilia B (factor IX deficiency), including seven patients with anti-factor IX antibodies (inhibitors), by molecular probes. Seventeen patients without inhibitors against factor IX and three patients with inhibitor showed no abnormalities in their restriction fragments generated by digestions of the genomic DNA by BamHl, EcoRl, Mspl, or Taql and hybridized with a factor IX cDNA probe (pHFIX). The remaining four patients with inhibitors were found to have gross deletions of the factor IX gene. Among those four patients, two were from the same family. Quantitative Southern blotting clearly showed that the abnormal gene was inherited in this family. DNA from the mother of another patient with deletion of the factor IX gene showed normal gene dosage, indicating that the mutation must have occurred at the mother's germ cells. The genomic DNA samples of four patients with gross factor IX gene deletions were found to lack the entire factor IX gene as analyzed with a factor IX cDNA as well as with a 3'-genomic factor IX fragment as probes. The hypoxanthine phosphoribosyltransferase (HPRT) gene probe, however, was found to hybridize with all of these DNA samples, indicating that the deletions in these genomic DNA samples had not extended to the region containing the HPRT gene locus in q27 proximal to the factor IX gene locus on the X chromosome. Several clinical characteristics were compared between inhibitor cases with gene deletion and inhibitor cases without obvious gene deletion.(ABSTRACT TRUNCATED AT 250 WORDS)
Extensive purification of DNA polymerase alpha-primase resulted in a marked loss of the DNA polymerase alpha activity. This loss is due partly to the elimination of some basic proteins from the enzyme preparation since the activity of purified enzyme was stimulated 10- to 15-fold by the addition of various basic proteins, including all five classes of histones, protamine, poly-L-lysine, and poly-L-arginine, at a concentration of 2 micrograms/0.2 ml in the presence of 20 micrograms/0.2 ml of activated DNA. The optimum concentration of the basic proteins and the maximum activity attained at that concentration varied with varying concentrations of the template primer used, indicating that the observed stimulation is caused by an interaction between these basic proteins and activated DNA. The enzyme activity with an optimal concentration of activated DNA was markedly inhibited by the addition of denatured DNA. The suppressed enzyme activity could be restored by an appropriate concentration of histone H1. These results suggest that histone H1 and other basic proteins protect the enzyme from forming an abortive complex with single-stranded DNA or with a long stretch of the single-stranded part of activated DNA as single-stranded DNA-specific binding proteins do (M. Sapp, H. König, H. D. Riedel, A. Richter, and R. Knippers (1985) J. Biol. Chem. 260, 1550-1556). Spermine also showed a similar stimulatory effect. All acidic proteins tested were ineffective.
Poly (ADP-ribose) synthetase from bovine thymus was phosphorylated effectively by protein kinase C in vitro. The phosphorylation was dependent on the activators of this kinase, Ca2+ and phospholipid. The apparent Km for the synthetase was about 8 microM, which was lower than that for histone H1. Though the synthetase was a weak substrate for Ca2+/calmodulin-dependent protein kinase II, other protein kinases, cyclic AMP-dependent and cofactor-independent protein kinases did not phosphorylate the synthetase. Phosphorylation of the synthetase by protein kinase C resulted in appreciable inhibition of the synthetase activity.
Pharmacological doses of niacin and its analogues were given intraperitoneally to rats with and without coadministration of a hepatocarcinogenic dose of diethylnitrosamine (DEN), and their effects on the induction of ornithine decarboxylase (ODC, EC 4.1.1.17) activity in the rat liver were studied. The induction of ODC activity by DEN was inhibited by 74.3, 85.5, 94.6, 97.6, 72.6 and 55.2% by nicotinamide, nicotinic acid, 3-hydroxymethylpyridine, beta-picoline, pyridine-3-aldehyde and ethylnicotinate respectively. When given alone, these analogues did not induce ODC activity. All these compounds are known to have a niacin effect. DEN-induced ODC activity was also inhibited by 84.0, 93.3, 52.8 and 75.9% by 6-aminonicotinamide, picolinic acid, pyridine-3-sulfonic acid and thionicotinamide, respectively, but, peculiarly, they induced ODC activity by their administration alone. These niacin analogues are known to have anti-niacin effects. Tryptophan, N'-methylnicotinamide and isonicotinic acid hydrazide did not affect the DEN-induced ODC activity but could induce ODC by themselves. Tryptophan belongs to the former group and isonicotinic acid hydrazide to the latter group. The reason for these discrepancies is discussed.
We recently reported that type D botulinum neurotoxin ADP-ribosylates a specific protein of Mr 21,000 in membrane fractions of various tissues (Ohashi, Y. and Narumiya, S. (1987) J. Biol. Chem. in press). We examined similar enzyme activities in other types (types A, B, C1 and E) of botulinum neurotoxins. Of these, only type C1 toxin showed the activity similar to type D toxin and ADP-ribosylated the same Mr 21,000 protein in membranes of mouse brain. No enzyme activities were detected in type A, B and E toxins under the present experimental conditions. GTP stimulated ADP-ribosylation by the two toxins in a concentration dependent manner from 10 nM to 100 microM. The maximum stimulation was about 6 fold. GDP was 10 times less potent than GTP and achieved similar maximum at 1 mM, while GMP, ADP and ATP had little effect. Several guanidino-containing compounds dose-dependently inhibited the activities of both toxins. The IC50 values were 8.5, 14.5 and 45 mM for agmatine, L-arginine methyl ester and guanidine, respectively.
In a follow-up study of coronary artery lesions (CAL) due to Kawasaki disease, 200 patients were examined by serial coronary arteriography 1 year after first detection of the condition. On comparing the findings of the two coronary angiographic studies, a worsening of stenotic lesions was detected in 30 patients (15%; 40 of 139 stenotic lesions, 29%), while improvement of stenotic lesions was seen in 24 patients (12%; 40 lesions, 29%). Relating these changes in CAL to the interval from the onset of disease to the first coronary arteriography showed the rate of increased or new stenotic lesions (37%) to be higher in the late group, in which the first study was performed 5 months after the onset of the disease, than in the early group (21%), in which the study was done within 4 months from the disease onset. The frequency of decrease in aneurysm size was higher in the early group (70%) than in the late group (19%).
Among phenylbutazone (PZ) and its related compounds, suxibuzone (SUX) caused the most extensive decrease in pyruvate kinase (PK) activity with lower toxicity. Therefore, we studied the effect of SUX on rat hepatocarcinogenesis to confirm our assumption that an agent which causes a prolonged decrease in PK activity in rat liver promotes hepatocarcinogenesis. For initiation rats were fed a diet containing 0.06% 3'-methyl-4-dimethylaminoazobenzene (3'-Me-DAB) for 4 weeks. At the end of 53 weeks of the experiment the incidences of liver tumors were 14.3 and 70.0% in the rats fed basal diet and in the rats fed 0.5% SUX diet, respectively, after the initiation. No tumors were observed in rats fed the SUX diet without the initiation. The result shows that SUX promotes hepatocarcinogenesis and supports the above assumption.
This article reports a case of an infrarenal abdominal aortic aneurysm complicated with chronic disseminated intravascular coagulopathy (DIC). The patient was a 68-year-old man; bleeding of 20 months' duration was reported. Physical examination indicated a pulsating mass in the abdomen. The diagnosis of DIC was made on the basis of standard coagulation studies. Indium 111-labeled platelet scintigraphy demonstrated an increased accumulation of radioactivity over the aneurysm. After preoperative control of the bleeding tendency was obtained by continuous intravenous infusion of gabexate mesilate (FOY), the aneurysm was successfully replaced with a prosthetic graft. Gabexate mesilate therapy is useful for DIC as is heparin therapy. If surgical intervention is required for an abdominal aortic aneurysm with concomitant DIC, preoperative control of bleeding with gabexate mesilate or heparin is recommended to lessen operative bleeding.
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In order to investigate the influence of cuff size and anthropometric values for the measurement of indirect blood pressure (IP) by sphygmomanometer, IP was measured simultaneously with the recording of direct aortic pressure (DP) by catheter tip micromanometer. Observations were made in 56 patients, aged 3 to 16 years. The majority had a history of Kawasaki disease and some type of congenital heart disease, but all were normotensive and none had aortic insufficiency and stenosis. As IP values, Korotokoff 1 sound, and Korotokoff 4 and 5 sounds were regarded as systolic and diastolic pressure values, respectively. IP measurement was performed in each subject using at least 6 types of cuffs with different widths and lengths. The results were as follows: (1) IP was noted to have a linear correlation to DP (p less than 0.01), but systolic IP tended to show higher values than those of DP. The same tendency was noted for the diastolic IP. (2) There was a negative correlation between IP/DP and cuff width/arm length (p less than 0.01). (3) According to cuff width/arm length, values of IP/DP were divided into 2 groups: a group less than 0.4 and another group more than 0.4. In the former group, values of IP/DP were significantly higher than those of the other group. The most important influencing factor on IP measurement was the cuff width in relation to the arm length. Use of a short width cuff may cause overestimation of the indirect blood pressure.
A 75-year-old woman with anemia admitted to our hospital and was found to have a polyp in the duodenal bulb. The biopsy specimen was histologically diagnosed as an adenoma. A barium enema examination showed an obstruction in the ascending colon and a biopsy done on a specimen of the ascending colon revealed colonic cancer. A histology of the resected specimen of the duodenal bulb revealed a tubular adenocarcinoma in an adenoma, and a similar examination of a colonic resected specimen revealed a mucinous, papillary carcinoma. A primary malignant tumor in the duodenum is an uncommon tumor and our case is first in Japan showing three malignant tumors with an early duodenal cancer.
Four distinct intragenic polymorphisms in the coagulation factor IX gene which have been reported to be important for family diagnosis of Caucasian hemophilia B were studied in 51 normal Japanese subjects (21 males and 30 females). High-molecular-weight DNA prepared from peripheral blood lymphocytes were digested with endonuclease, Ddel, Mspl, Taql or Xmnl, and were studied by Southern blot analysis with factor IX complementary DNA as a probe. None of the minor fragments produced by these enzymes was found in the normal Japanese DNA samples tested, although the probe detects minor allelic forms in control Caucasian DNA samples. Our data suggest that the frequent polymorphic sites found in Caucasians are possibly absent in the Japanese population.
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