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Biomedical subjects

H Shiono

Publications and source records attributed to H Shiono.

At least 127 records · Page 7Linked to original sources
PubMed1981

Transverse deficiency of the hand in one of monozygotic twins.

In this paper, we report on one male infant of twins with a left hand anomaly. The hand deformities were diagnosed as so called "congenital amputation" which is a synonym of "transverse deficiency" in Swanson's classification. The left hand showed spontaneous amputation at the level of the palm. There were two rudimentary digits on the stump, and an extremely hypoplastic thumb and little finger. The other twin had no anomaly. The results of laboratory findings on blood groups and HLA types suggest that these twins are monozygotic. From these facts, we considered that environmental factors are more important than genetic ones in the pathogenesis of transverse deficiency and symbrachydactyly of the hand.

Blood Grouping and Crossmatching↗
PubMed1980

Dermatoglyphs in duplication of the thumb.

The dermatoglyphs of 13 Japanese (eight males and five females) with duplication of the thumb were studied. The dermal patterns on the thumb were compared with those on the extra digit. A whorl on the thumb was associated with a whorl on the extra digit in two cases, a radial loop in four cases, and an arch in two cases. Where the thumb pattern was a loop the pattern on the extra digit was a loop in all three cases. Where the thumb and extra digit are both well developed the pattern tends to be the same on both digits. When the extra digit is poorly developed it tends to have a different pattern from the thumb.

Child, Preschool↗
PubMed1979

The questionnaire to parents of children with the Down syndrome: how to inform the parents and psychological responses to counseling.

This study determined the experience of 137 sets of parents when they were informed that their child had Down syndrome and how they would have preferred this matter to have been handled. The survey revealed that the majority of parents would have preferred being told as soon as possible, with both of them present, and that they had suspected something wrong at the birth of the child. This information prompted us to analyze critically the parental experiences and to formulate a positive approach, with sensitive, supportive, and progressive counseling.

Adaptation, Psychological↗
PubMed1978

Observations of ridge appearances in a normal population and in Down syndrome patients (21-trisomy) using the scanning electron microscope.

A celluloid plate containing a drop of amyl acetate was pressed to the skin. The impression thus obtained was coated with carbon and gold and observed under the scanning electron microscope. Impressions from the fingers of the normal population showed the crests and furrows of the finger prints clearly. The impressions from the fingers of Down syndrome patients were a mixture of the normal crests and furrows and of hypoplastic crests and furrows.

Adolescent↗
PubMed1977

Down syndrome with trisomy in one triplet.

The case presented here may be the first identified report of Down syndrome with 21 trisomy in one child of triplets. One triplet died at 1 month of age; his facial appearance was not typical of Down syndrome. Detailed testing of blood groups suggested identical origin in the remaining two children. However, the fluorescent banding technique of chromosome, one-way mixed lymphocyte culture test, and HLA typing were suggestive of dizygotic orgin. Skin transplant studies supported this contention.

Chromosomes, Human, 21-22 and Y↗
PubMed1977

Dermatoglyphics in Cri du Chat syndrome.

The dermatoglyphics of 33 Japanese (20 females and 13 males) with Cri du Chat syndrome were compared with 544 male and 129 female controls. In these cases, 18 cases were described only with regard to simian crease and distal axial triradius. It was found that these patients showed high frequencies of certain characteristics such as whorl pattern, arch pattern, thenar pattern, bilateral simian creases and distally displaced axial triradii on both palms (t').

Cri-du-Chat Syndrome↗
PubMed1977

Dermatoglyphs of Klinefelter's syndrome.

The dermatoglyphs of 28 Japanese with Klinefelter's syndrome [24 XXY; 2 XXYY; 1 XXXY; 1 XXXXY] were compared with 544 male and 129 female controls. These patients showed high frequencies of fingertip arches pattern, right third interdigital loops, right hypothenar patterns (Lr) and line C terminating 0 in the right hand. The mean summed a-b ridge count of Klinefelter's syndrome patients was significantly lower than that of the male controls. We suggest that an increase in the number of X or Y chromosomes decreased the a-b ridge count in a similar way to the decrease in total finger ridge count.

Adolescent↗
PubMed1975

Hepatitis-associated (Australia) antigen and Down's syndrome.

Hepatitis-Associated (Australia) Antigen (HAA) was detected in 13 (5.8%) of 223 patients with Down's syndrome and in 14 (3.7%) of 378 patients with other forms of mental retardation. The frequency of HAA was 2.4 per cent in 127 noninstitutionalized patients with Down's syndrome, and 10.4 per cent in 96 institutionalized patients. The frequency of HAA with Down's syndrome was lower on the average in Japan than in the United States or Germany. HAA was detected in one (1.3%) of 78 mothers of infants with Down's syndrome. Our study suggests that maternal exposure to HAA, as reflected by the presence of either HAA or anti-HAA, was not associated with the subsequent birth of an infant with Down's syndrome.

Adolescent↗