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Biomedical subjects

A Fujimoto

Publications and source records attributed to A Fujimoto.

At least 127 records · Page 7Linked to original sources
PubMed1980

[Clinical evaluation of cefamandole on urinary tract and genital organ infections (author's transl)].

Ten patients suffering from genital organ infections, urinary tract infections and symptomless bacteriuria were treated with cefamandole (CMD). CMD was administered intravenously and drip infusion at a dosage of 4.0 g/day for 4 approximately 10 days. Clinical results obtained were as follows: Of 6 patients with genital organ infections, excellent responses were seen in 2 patients, good responses in 4 patients. Of 3 patients with urinary tract infections, excellent responses were seen in 2 patients, and good response in 1 patient. The overall efficacy rate was 100%. In the cases of urinary tract infections and symptomless bacteriuria, 3 strains of E. coli and 1 strain of Streptococcus faecalis disappeared. On the other hand, in genital organ infections, we had no bacterial findings. No significant reaction was observed in clinical laboratory findings of hemogram or in test on renal and hepatic functions, except slight transient leukopenia observed in 1 patient.

Adult↗
PubMed1980

Mental retardation and unilateral anophthalmia in hemifacial microsomia.

A 3-year-old boy with left anophthalmia and hemifacial microsomia was found to be not severely retarded. Previous reports have emphasized concomitant severe mental retardation in patients with this malformation complex. Review of the literature and the present case indicate that mental retardation is a variable feature of this condition.

Anophthalmos↗
PubMed1978

The change in the pH 4 and pH 6 forms of alpha-glucosidase in cultured amniotic fluid cells and its implication in prenatal diagnosis of Pompe's disease.

Activities of two major forms of alpha-glucosidase in cultured amniotic fluid cells have been measured by the 4-methylumbelliferyl-alpha-D-glucoside assay after 3, 6 and 9 weeks of culturing. Activity of the pH 4 forms of alpha-glucosidase, which is deficient in Pompe's disease, was low in early culture but increased rapidly as the culture time was increased. The cells harvested at 3 weeks had a low absolute activity of the pH 4 form as well as low ratio of the pH 4 to pH 6 enzyme. The pH 6 form is not affected in Pompe's disease. The results suggest cautions when attempting early diagnosis by use of microtechniques and re-emphasizes the need for differentiation of these two forms of alpha-glucosidases in prenatal diagnosis of Pompe's disease.

Amniotic Fluid↗
PubMed1978

A fetus with recombinant of chromosome 8 inherited from her carrier father.

A pericentric inversion of chromosome 8, inv(8)(p23q22), in a male carrier resulted in an unbalanced recombinant, rec(8)dup q, inv(8)(p23q22), which was diagnosed prenatally. The features seen in the aborted fetus resembled the features seen in a previously affected child who received the identical recombinant from her carrier mother. In this particular inversion involving chromosome 8, both male and female carriers risk producing an unbalanced progeny. Different familial pericentric inversions are reviewed for the presence or absence of unbalanced recombinants.

Abortion, Spontaneous↗
PubMed1978

Taurodontism and Klinefelter's syndrome.

The incidence of taurodontism in 31 patients with XXY Klinefelter's syndrome was studied. Taurodont molars were observed in 6 of the 31 cases (19.4%), a significantly higher rate than among the controls. Though taurodontism is not an obligatory finding in Klinefelter's syndrome, it is believed to be one of the anomalies frequently observed in connection with this condition.

Adult↗
PubMed1976

Two alpha-glucosidases in cultured amniotic fluid cells and their differentiation in the prenatal diagnosis of Pompe's disease.

A sensitive fluorometric assay utilizing 4-methylumbelliferyl-alpha-D-glucopyranoside has been developed for the determination of alpha-glucosidase. The enhanced sensitivity was achieved by increasing the solubility of the substrate with a water miscible organic solvent. With this system, cultured amniotic fluid cells were found to have two major forms of alpha-glucosidase with somewhat overlapping acidic pH optima; one with pH optimum at 4.5 is deficient in Pompe's disease (type II glycogenosis), while one with pH optimum at 6.0 is not affected in this disease. Specificity for the pH 4 form of alpha-glucosidase was achieved by exploiting the greater thermal lability of the pH 6 enzyme. The pH 6 form of the enzyme was also detectable in freshly prepared extracts of cultured fibroblasts. The procedure is direct and simple and has been applied to the prenatal diagnosis in two pregnancies at risk for Pompe's disease.

Amniotic Fluid↗
PubMed1976

Lysine malabsorption syndrome: a new type of transport defect.

A 21-month-old girl with physical and mental retardation is described. She excreted an increased amount of lysine in urine but no excessive quantities of arginine, ornithine, or cystine. Serum level of lysine was found to be low but the levels of the other amino acids were within normal limits. The endogenous renal clearance rates of amino acids showed a marked high value of lysine and normal values of the other dibasic amino acids. Oral loading test of amino acids revealed an imparied absorption of lysine and normal absorption of arginine, ornithine, and cystine in the intestine. These results indicate a specific defect in transport of lysine in the intestine as well as in the renal tubule.

Amino Acids↗
PubMed1975

Familial inversion of chromosome No. 8: an affected child and a carrier fetus.

An infant with multiple congenital anomalies was found to have a duplication-deficiency disorder involving chromosome No. 8. The abnormality was identified as an unbalanced recombinant inherited from the mother who was a carrier of a pericentric inversion of chromosome No. 8. The inversion was observed in several members of this family, including a fetus who was diagnosed by an amniocentesis. The inverted chromosome was demonstrated only with the use of a differential staining technique, in this case, by trypsin-Giemsa banding.

Amniocentesis↗