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Biomedical subjects

S Kodama

Publications and source records attributed to S Kodama.

At least 289 records · Page 16Linked to original sources
PubMed1977

Congenital hypocupraemia syndrome with and without steely hair: report of two Japanese infants.

Two Japanese infants with Menke's kinky hair syndrome are reported. The unusual finding in one infant was the absence of the hair abnormality characteristic of this disease; other findings were consistent with the diagnosis. It is suggested that hair abnormality cannot be relied upon for the diagnosis and that the term "kinky hair" is anappropriate. In its place "congenital hypocupraemia" is proposed as the diagnostic term to embrace patients with and without hair abnormality. Serum copper determination is a simple and reliable test in the diagnosis of this syndrome and should be done routinely in all male patients with unexpected deterioration. The angiographic features present in these patients with unexpected deterioration. The angiographic features present in these patients are characteristic but not pathognomonic of the disease. Subdural hygroma, a common finding, is the result of severe brain atrophy and little can be expected by surgical intervention.

Brain Diseases, Metabolic↗
PubMed1976

Mild variant of maple syrup urine disease.

Amino acids analysis were made on serum and cerebrospinal fluid samples of a Japanese 5-month-old infant suffering from irritability and mental retardation noticed at 2 months of age. Excessive amounts of branched-chain amino acids and of keto acids were detected in those samples and the large quantity of keto acids was found in urine with a qualitative 2,4-dinitro-phenyl-hydrazin test and with quantitative estimation. When thiamine hydrochloride (100 mg/day) was administered orally for 7 days to the patient fed with the cow's milk formula containing 2.1 gm/dl milk protein, there was no improvement of the branched-chain amino acidemia. Urinary keto acids, however, showed a marked decrease 7 days after the administration of thiamine hydrochloride. An overnight fast for 13 h resulted in normoglycemia. There was found no difference of blood L-lencine level between both parents and normal infants to whom L-leucine was loaded. The relation between decarboxylase activity for keto acids of branched-chain amino acids and thiamine hydrochloride was studied clinically, in the present communication.

Amino Acids↗
PubMed1976

Unbalanced 13q/21q translocation: a revised study of the case previously reported as 21-monosomy.

Reexamination was made on a male infant previously reported as 21-monosomy. Extensive chromosome banding analyses in the patient and parents disclosed an unbalanced de novo translocation between chromosomes 13 and 21. The patient's karyotype was interpreted as 45,XY,--13,--21+der(13),t(13;21) (q2 or 3;q1 or 2)pat. The patient showed many clinical features characteristic of 13q--syndrome.

Aneuploidy↗