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Biomedical subjects

M Takayanagi

Publications and source records attributed to M Takayanagi.

At least 163 records · Page 9Linked to original sources

Niemann-Pick disease associated with liver disorders.

We report a case of Niemann-Pick disease (NPD) with accumulation of sphingomyelin in reticuloendothelial system (RES), hepatocellular giant cell transformation (GCT), cirrhosis, and multiple hepatocellular adenomata in a 19-month-old girl. GCT, but no NP-cells, were seen at age 3 months by biopsy. Cirrhosis and hepatocellular adenomata were demonstrated in the liver at 19 months of age. Cytoplasmic, probably locally synthesized, globules of alpha-1-antitrypsin (A-1-AT) were accumulated in the hepatocellular adenomata. A-1-AT and alpha-fetoprotein (AFP) were present in the serum.

Fatty Liver↗

A female case of ornithine transcarbamylase deficiency with marked computed tomographic abnormalities of the brain.

The patient, 2 years and 9 months of age, was referred to our hospital with complaints of frequent vomiting, left hemiconvulsion and deep coma. The serum ammonia level was 251 micrograms/dl. Urine had a high orotate level (3,900 mumol/g creatinine). There was 7% residual of ornithine transcarbamylase (OTC) activity in the liver. Activities of other enzymes of the urea cycle were within normal limits. CT scanning on admission showed diffuse low density of both frontal lobes and of the right temporo-parietal lobe, narrowing of the right lateral ventricle and a shift of the mid-line to the left. The diffuse low density area was not enhanced after contrast medium injection. Follow-up CT scanning showed progressive bilateral ventricular dilatation and cerebral and cerebellar atrophy.

Amino Acid Metabolism, Inborn Errors↗

Colorimetry of hemoglobin in plasma with 2,2'-azino-di(3-ethylbenzthiazoline-6-sulfonic acid) (ABTS).

Hemoglobin in plasma can be determined by the color-developing action of 2,2'-azino-di(3-ethylbenzthiazoline-6-sulfonic acid), which is oxidized to a colored form by a peroxidase-like effect of hemoglobin in the presence of hydrogen peroxide. Sensitivity, precision, and accuracy are discussed. The calibration curve is linear for hemoglobin concentrations up to 1 g/L; the minimum detectable concentration is 20 mg/L. The within-run precision (CV) was 2.39%, analytical recovery 101.8%. Interference from plasma proteins and lipids was eliminated by centrifuging the reaction mixture before measuring its absorbance at 410 nm.

Anticoagulants↗

A case of transient neonatal citrullinemia.

A male infant with transient citrullinemia is described. Initially, he was found to have hypertyrosinemia and hypermethioninemia upon routine neonatal screening for inborn errors of metabolism performed at 4 days of age and was revealed to have citrullinemia upon detailed examination of plasma amino acids. At 30 days of age, the plasma citrulline concentration was 13 mg/dl (normal, less than 0.8). In addition, the citrulline concentrations in the urine and cerebrospinal fluid (CSF) were markedly elevated. The blood ammonia and the CSF ammonia concentrations (300 micrograms/dl and 59 micrograms/dl, respectively) were also increased, but the infant showed no symptoms. Dietary protein intake was restricted to 2 g/kg/day, resulting in normalization of plasma citrulline and blood ammonia concentrations by 2 months of age. At 12 months of age, the infant was given a regular diet, and his physical and mental development was normal. 14C-citrulline incorporation into trichloroacetic acid (TCA)-precipitable material was normal in the fibroblasts. This report describes the first case in the literature of transient neonatal citrullinemia.

Amino Acid Metabolism, Inborn Errors↗

Cadmium-induced DNA single-strand scissions and their repair in cultured Chinese hamster cells.

DNA lesions induced by cadmium chloride (CdCl2) were characterized using the technique of alkaline or neutral elution for cell-DNA in cultured V79 cells. A marked increase in elution of the DNA was observed on elution of the proteinase-K-digested cell lysates with alkaline eluting solution (pH 12.2) after treatment with 5 X 10(-5) M CdCl2 for 2 h. In contrast, no increase in elution of the DNA was observed when the same cell lysates were eluted with an eluting solution of pH 9.6. These findings indicate that the DNA lesions induced by cadmium were DNA single-strand but not double-strand scissions. The DNA single-strand scissions by cadmium were partly rejoined after 4 h of repair incubation. However, the DNA lesions were not rejoined up to the control level in the technique of alkaline elution, even after 20 h of repair incubation. On the other hand, an apparent increase in elution of the DNA was observed by combined treatment with cadmium and inhibitors of repair DNA synthesis, hydroxyurea (HU) and 1-beta-D-arabinofuranosylcytosine (ara-C), for 4 h when compared to elution of the DNA from the cells treated with cadmium alone or HU and ara-C. These results indicate that cadmium-induced DNA single-strand scissions accumulated as a result of inhibition of repair DNA replication by HU and ara-C. Thus, it is concluded that cadmium-induced DNA single-strand scissions were repairable and their repair might be dependent upon the excision repair mechanism.

Animals↗