official journal of Congeital Anomalies Research Association of Japan
Online ISSN : 2433-1503
Print ISSN : 0037-2285
Volume 38 , Issue 3
Congenital Anomalies
Showing 1-6 articles out of 6 articles from the selected issue
  • 1998 Volume 38 Issue 3 Pages 251-258
    Published: 1998
    Released: July 30, 2021
    JOURNALS OPEN ACCESS
    ABSTRACT “University of the Ryukyus-Database for Malformation Syndromes (UR- DBMS)” is a computerized database available as a diagnostic aid for malformation syndromes, chromosomal aberrations and other genetic diseases. This UR-DBMS had been originally programmed by the author since 1989. The first version was established and opened to Japanese dysmorphologists in 1991. The newest version 5, started to be opened since 1998 in the form of a CD-ROM disk, composed of four major data files and three other supporting files with a total volume about 400 MB. The main UR-DBMS file includes clinical findings and notes of about 6,300 diseases/genes as well as 1,200 photographic data quoted from two major publishers in USA. Reference file includes almost all titles of the papers concerned. Abstract file has about 30,000 abstracts. Mutation file includes information for about 800 allelic variants identified so far, updated daily through Online MIM. These data were summarized and combined from several leading English textbooks and refined through Online MIM. UR-DBMS uses an original systematized code to obtain quick and complete results in referring the database. UR-DBMS was applied in the diagnosis of 51 newly visited patients with malformations and mental retardation from 1996 to 1997. As a result, clinical diagnoses were obtained or highly suspected in about 75% of the patients. It is confirmed that UR-DBMS is a useful aid for clinical geneticists to obtain correct or near correct diagnoses, especially when they must check further examinations to rule out and refine the diagnoses.
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  • 1998 Volume 38 Issue 3 Pages 259-270
    Published: 1998
    Released: July 30, 2021
    JOURNALS OPEN ACCESS
    ABSTRACT The effect of fetal movement on the development of the hip joint was examined by restraining the leg movement using ex0 utero operation in rat fetuses. At embryonic day (E) 16.5, when the hip joint cavity starts to form, one side of the hind limb was sutured onto the embryonic membrane. After ex0 utero development to E18.5, the hip joint of the operated side was compared morphologically with those of the unoperated side, sham-operated and unoperated in utero controls. The largest diameter of the femoral head (FH) and the gross morphology of the joint cavity of the operated side was not different from those of controls. By light microscopy (LM), the surface of the control E18.5 FH and acetabulum was smooth and covered by thin scale-shaped cells which were partially pyknotic, and oval-shaped cells underneath were rather regularly arranged in a thickness of a few cells. By transmission electron microscopy (TEM), scale-shaped cells covered the FH surface incompletely, and the spaces in-between were filled with the intercellular matrix. Oval-shaped cells underneath had well developed rough endoplasmic reticulums. By scanning electron microscopy (SEM), mounds and grooves on the FH surface were evident at E17.0 but became unclear at E18.5. Subsurface collagen fibers formed a coarse meshwork at E17.0 but formed bundles at E18.5. On the operated side, by LM, the surface of the FH and acetabulum was irregular and lined by spindle-shaped cells, whereas the underlying mesenchymal cells also showed an irregular cell shape and arrangement. By TEM, collagen fibrils in intercellular spaces were dense but did not generally form bundles. By SEM, the FH surface was rugged with banks and subsurface collagen fibers did not form bundles but remained as a dense meshwork. These results suggest that the fetal hind limb movement influences development of the surface structure of the FH and acetabulum and that this system may be useful to study prenatal etiology of the congenital dislocation of the hip.
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  • 1998 Volume 38 Issue 3 Pages 271-272
    Published: 1998
    Released: July 30, 2021
    JOURNALS OPEN ACCESS
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  • 1998 Volume 38 Issue 3 Pages 273-292
    Published: 1998
    Released: July 30, 2021
    JOURNALS OPEN ACCESS
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  • 1998 Volume 38 Issue 3 Pages 293-298
    Published: 1998
    Released: July 30, 2021
    JOURNALS OPEN ACCESS
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  • 1998 Volume 38 Issue 3 Pages 299-346
    Published: 1998
    Released: July 30, 2021
    JOURNALS OPEN ACCESS
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