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Biomedical subjects

K Fujiki

Publications and source records attributed to K Fujiki.

At least 109 records · Page 6Linked to original sources
PubMed1987

High resolution G-banding analysis in aniridia.

The authors investigated eight cases of aniridia by high resolution G-banding analysis (750 bands). A deletion of the short arm of chromosome 11 was found in two cases. One of these involved a three months old boy who was suspected of having Wilms' tumor. After elaborate investigations by pediatric surgeons, Wilms' tumor was found in his left kidney and was successfully removed in its early stage. These results suggest that high resolution G-banding analysis should be performed in all cases of infantile aniridia as a screening test for early detection of Wilms' tumor.

Child, Preschool↗
PubMed1979

Birth order and parental age in microphthalmos and other ocular diseases.

We compared the distribution of birth order and maternal and paternal ages of blind school children throughout Japan with that of the total Japanese population of the corresponding age groups and with that of a subgroup of children with acquired blindness. The number of first-born children with microphthalmos was smaller, and the number of second-, third-, or fourth-born children was larger, as compared with the control groups. The differences were highly statistically significant by chi-square test. There was a less pronounced indication of birth order effect in amblyopia, congenital cataract, and optic nerve atrophy, which involved more first-borns than in the controls. The distribution of maternal age was also different from the control group in microphthalmos, congenital cataract, corneal opacity, and optic nerve atrophy. Less mothers in their 20s and more in their 30s produced children with these conditions. We believe this finding may be partly related to the rapid decline in infant mortality and in the incidence of congenital blindness in Japan.

Adult↗
PubMed1976

Amino acid composition of peptidoglycan in Caulobacter crescentus.

Peptidoglycan of a gram-negative stalked bacterium, Caulobacter crescentus CB13, contained alanine, diaminopimelic acid, and glutamic acid, in molar ratios of 2 : 1 : 1. The amino acid compositions of peptidoglycans isolated from cultures enriched in swarmer and stalked cells, and from a stalk-less mutant were similar. This finding conflicts with a previous observation that swarmer peptidoglycan does not contain diaminopimelic acid (Goodwin and Shedlarski (1975) Arch. Biochem. Biophys. 170, 23-36). It appears that, despite the morphological differences, the Caulobacter cells all contain a similar peptidoglycan in the cell wall.

Alanine↗
PubMedDate not supplied

Incidence of congenital malformations in Tokyo Metropolitan Hospitals, 1979-1993.

Congenital malformations in all babies delivered at 11 Tokyo Metropolitan Hospitals (TMH) (8 hospitals since July 1989) for 15 years, January 1979 to December 1993, were monitored. Congenital malformations found within 7 days after birth were observed in 2085 babies (1.5%) of 138,544 births including stillbirths after 16 weeks gestation. The prevalence rates of selected malformations were calculated and compared in the 5-year periods of 1979-1983, 1984-1988 and 1989-1993. There was no typical secular trend in prevalence rates of malformations except for the heart and circulatory system, which showed an increase because of the recent progress in prenatal diagnosis of these malformations. The specificity of the TMH Monitoring System is also discussed.

Congenital Abnormalities↗
PubMedDate not supplied

Multicenter genetic study of retinitis pigmentosa in Japan: I. Genetic heterogeneity in typical retinitis pigmentosa.

A nationwide, multicenter study of typical retinitis pigmentosa (RP) was carried out in collaboration with 18 hospitals throughout Japan to obtain current information for genetic counseling. We analyzed the genetic heterogeneity of RP based on the parental consanguinity of 434 probands registered during a 6-month period in 1990. A gradual decline in the frequency of consanguineous marriage was recognized among the normal parents of RP patients. The relative frequencies of inheritance patterns were estimated as: autosomal recessive, 25.2%; autosomal dominant, 16.9%; X-linked, 1.6%; and simplex, 56.3%. A comparison of these results with previous reports in Japan revealed a decline in the relative frequency of autosomal recessive cases and an increase in simplex cases. This suggests a decrease in the incidence of autosomal recessive retinitis pigmentosa in Japan, as well as the necessity for exhaustive investigations aimed at identifying inheritance patterns for RP patients seeking genetic counseling.

Adolescent↗