official journal of Congeital Anomalies Research Association of Japan
Online ISSN : 2433-1503
Print ISSN : 0037-2285
Volume 28 , Issue 1
Congenital Anomalies
Showing 1-8 articles out of 8 articles from the selected issue
  • 1988 Volume 28 Issue 1 Pages 1-15
    Published: 1988
    Released: July 22, 2021
    JOURNALS OPEN ACCESS
    ABSTRACT The objective of this investigation was to find out the histopathologi- cal changes of the placenta and to correlate them with fetal malformations and growth retardation in experimental diabetes. Diabetes was induced in Wistar rats at different stages of gestation by intraperitoneal injection of streptozotocin (STZ). The controls were either buffer treated or injected with STZ followed by 2-6 IU insulin until term. All fetuses and placentae were collected on day 20 of gestation. Fetuses of diabetic rats were significantly growth retarded. Maxillary hypoplasia, edema, gastroschisis, exencephaly and septa1 defects of the heart were the major malformations. Most of the experimental placentae weighed heavier relative to their body mass. Toluidine blue stained sections of the placentae revealed severe histological abnormalities. The unusually large sized placentae had extensive cystic degeneration, often with an increased population of leucocytes. Giant cells were very numerous. Perivascular fibrosis, persistence of fetal mesenchyme, edema, infarcts and vacuolisation were observed in the labyrinths. In the small placentae, the glycogen cells were fewer and the glycogen in them remained unutilized. Re- duction of labyrinthine zone, hypovascularity, constriction of vessels, perivascular edema and platelet aggregation characterized these placentae. The placentae of externally malformed fetuses showed cystic degeneration; their labyrinths contained constricted and less extensive vascular network. Phagocytic giant cells, polymorphs and platelet aggregation were also marked. Placentae of externally normal looking fetuses also presented cystic degeneration, reduction in fetal vasculature, dilated maternal sinusoids and giant cell proliferation. Insulin treatment resulted in the preservation of most of the normal histology of the placenta which correlated well with the reduced fetal malformations.
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  • 1988 Volume 28 Issue 1 Pages 17-23
    Published: 1988
    Released: July 22, 2021
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    ABSTRACT A case of 4p trisomy syndrome originated from familial icp (4; 14) is reported. The rearrangement was characterized by a breakpoint at the centromeric region of chromosome 14 and by a reciprocal translocation between chroniosomes 4 and 14. The translocation was observed in three generations. As a result of CBG banding analysis in prometaphase cells, the breakpoint of der (14) was considered to be located at 14~11.1, and a part of 14~11.1 was translocated to chromosome 4p. It was unknown whether a part of the centrornere was involved in it or not.
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  • 1988 Volume 28 Issue 1 Pages 25-32
    Published: 1988
    Released: July 22, 2021
    JOURNALS OPEN ACCESS
    ABSTRACT Despite the strong activity to induce wavy ribs in rat fetuses, furosemide does not seem to have such activity in the rabbit. Since wavy ribs are known to be repairable in the rat during the early postnatal period, there is a possibility that the anomaly once produced in rabbit fetuses disappeared before the examination at term because of their longer duration of gestation. In order to test this possibility, the authors administered furosemide to pregnant rabbits and examined fetuses shortly after the treatment period for the presence of wavy ribs. Furosemide even at doses which were apparently toxic to maternal animals failed to produce the anomaly. Based on these results and in view of the absence of its occurrence in the literature, it may be concluded that there is species specificity in the induction of wavy ribs and this anomaly does not occur in rabbit fetuses. The temporal difference between the onset of ossification and that of increased myometrial contractions may probably be involved in this species specificity.
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  • 1988 Volume 28 Issue 1 Pages 33-34
    Published: 1988
    Released: July 22, 2021
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    ABSTRACT Some 137 patients with thalidomide embryopathy have been registered. Of them, 65 were male and 72 female. The age of patients who had a medical examination from 1976 to 1983, ranged from 7 to 22 years. The mean age was 17.0 ? 2.3 (mean k SD) years. The number of hearing impairments were 35 (25.6%), limb defects were 55 (40.1%) and combined defects were 47 (34.3%). In order to determine the mutual relationships of 34 abnormal symptoms, the correlation coefficient was calculated, and cluster analysis was carried out by utilizing the result. There was a strong inverse correlation be- tween deformities and hearing impairments. The 34 symptoms were divided into three groups. In the first group 11 symptoms were included, but there was little mutual relationship. Fifteen symptoms belonged to the second group, which evidenced strong mutual relationships. The 8 symptoms belonging to the third group were central to all of the symptoms.
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  • 1988 Volume 28 Issue 1 Pages 45-50
    Published: 1988
    Released: July 22, 2021
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    ABSTRACT Neurochemical aspect of mental retardation is described, with special reference to phenylketonuria (PKU) as a cause of the inhibition of brain development. Biochemical and behavioral findings are outlined in a few animal models of PKU, including that of “maternal PKU” in which genetically normal offspring of rats with experimental PKU show significantly lowered discrimination learning ability. Possible roles of disordered amino acid metabolism and defective myelination in the inhibited brain development are briefly discussed.
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  • 1988 Volume 28 Issue 1 Pages 51-53
    Published: 1988
    Released: July 22, 2021
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    ABSTRACT A prominence on the preaxial border at the proximal end of the forelimb was found to appear in a limited period of limb development in mouse embryos. This prominence is observable around day 11 (vaginal plug = day 0). When compared with the number of tail somites, this prominence first appears in embryos with 10-12 tail somites, becomes prominent in embryos with 14-18 tail somites, and disappears in embryos with 20-22 tail somites. This prominence may be utilized as a simple morphological indicator for staging developing mouse forelimb.
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  • 1988 Volume 28 Issue 1 Pages 55-60
    Published: 1988
    Released: July 22, 2021
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  • 1988 Volume 28 Issue 1 Pages 61-65
    Published: 1988
    Released: July 22, 2021
    JOURNALS OPEN ACCESS
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