日本先天異常学会会報
Online ISSN : 2433-1503
Print ISSN : 0037-2285
39 巻 , 3 号
Congenital Anomalies
選択された号の論文の6件中1~6を表示しています
  • 1999 年 39 巻 3 号 p. 107-116
    発行日: 1999年
    公開日: 2021/07/31
    ジャーナル オープンアクセス
    ABSTRACT Myosins are highly divergent actin-based molecular motors. In five of eight classes expressed in mammals, defects in genes have been identified in mutant mice and/or human diseases. A mutated myosin 11-7 gene is one of the causes of human familial hypertrophic cardiomyopathy (FHC). The defective myosin Va gene is responsible for Griscelli disease, which is characterized by partial albinism and immunodeficiency, while in its mouse homologue coat color dilution is seen with or without neurological defects. There are three classes of myosins, VI, VII and XV, that are essential in the inner ear function. In humans, mutations in the VIIa gene are associated with three deafness-related diseases, Usher lB/DFNB2/DFNAll, providing the first example of exhibition of recessive- and dominant-inherited disorders by different mutations in a single myosin gene. There are variations in phenotype between human diseases and their mouse models, which appear to be explicable on the basis of differences in tissue expression patterns of the given myosin between mouse and man. In FHC and Usher IBDFNB2DFNA11, a wide spectrum of clinical symptoms are observed. Evidence has accumulated suggesting that the more functionally important the mutation site of the molecule, the more serious and severe the symptoms, although involvement of additional factors such as modifier genes and genetic background can not be ruled out. Molecular genetic analyses of a variety of dilute alleles in mice have greatly facilitated our understanding of genotype-phenotype correlations, including information about structurally and functionally important domains of the myosin Va protein and cell-type-specific functions of different isoforms produced by alternative splicing.
  • 1999 年 39 巻 3 号 p. 117-126
    発行日: 1999年
    公開日: 2021/07/31
    ジャーナル オープンアクセス
    ABSTRACT The purpose of the study was to check the human teratogenic potential of three penicillins G: parenteral treatments with benzylpenicillin, benzylpenicillin-procaine, and benzylpenicillin + benzylpenicillin-procaine during pregnancy in the population-based dataset of the Hungarian Case-Control Surveillance of Congenital Abnormalities, 1980- 1996. Of 38,151 pregnant women who had babies without any defects (population control group), 303 (0.8%) were treated with penicillin G. Of 22,865 pregnant women who had offspring with congenital abnormalities, 236 (1 .O%) were treated with penicillin G (crude OR with 95% CI = 1.3, 1.1-1.5). Of 812 mothers who deliveried babies affected with Down syndrome (patient controls), 15 (1.8%) had penicillin G treatment, and this rate exceeded significantly the figure of both the case and population control groups. This finding needs further studies. The case-control pair analysis did not indicate a teratogenic risk of three parenteral penicillin G treatments during the second-third months of gestation, i.e., in the critical period for major congenital abnormalities. The lower use of penicillins G was explained mainly by recall bias in the population control group. Thus, parenteral penicillin G treatments during pregnancy do not present a detectable teratogenic risk to the fetus.
  • 1999 年 39 巻 3 号 p. 127-128
    発行日: 1999年
    公開日: 2021/07/31
    ジャーナル オープンアクセス
  • 1999 年 39 巻 3 号 p. 129-150
    発行日: 1999年
    公開日: 2021/07/31
    ジャーナル オープンアクセス
  • 1999 年 39 巻 3 号 p. 151-194
    発行日: 1999年
    公開日: 2021/07/31
    ジャーナル オープンアクセス
  • 1999 年 39 巻 3 号 p. 195-199
    発行日: 1999年
    公開日: 2021/07/31
    ジャーナル オープンアクセス
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