日本先天異常学会会報
Online ISSN : 2433-1503
Print ISSN : 0037-2285
36 巻 , 2 号
Congenital Anomalies
選択された号の論文の9件中1~9を表示しています
  • 1996 年 36 巻 2 号 p. 54-55
    発行日: 1996年
    公開日: 2021/07/30
    ジャーナル オープンアクセス
  • 1996 年 36 巻 2 号 p. 57-64
    発行日: 1996年
    公開日: 2021/07/30
    ジャーナル オープンアクセス
    ABSTRACT A 3-year study (Jan. 1986-Dec. 1988) in the Kandang Kerbau Hospital revealed 678 infants with birth defects in 44,842 livebirths, (15.13 per 1,000 live births, 95% confidence intervals, CI 14.0-16.2). There were 161 cases with musculoskeletal abnormalities (3.5 per 1,000, 95% CI 3.06-4.19), 111 gastrointestinal system malformations (2.47 per 1,000, 95% CI 2.04-2.58), 88 chromosomal abnormalities (1.96 per 1,000, 95% CI 1.57-2.42), 78 cardiovascular system abnormalities (1.74 per 1,000, 95% CI 1.38-2.17), 73 urogenital system defects (1.63 per 1,000, 95% CI 1.28-2.05), and 52 central nervous system defects (1.16 per 1,000, 95% CI 0.87-1.52). The prevalence of cleft lip, cleft palate, and cleft lip/palate was 1.72 per 1,000, and Down’s Syndrome 1 in 700. At review, six weeks later, the false positive rate was 4% in the infants with defects, and in the group of 709 normal controls (matched by race, maternal age, ward class and time/date of birth), the false negative rate was 0.84%. The strongest risk factors were a family history of birth defects (odds ratio, OR 3.3, 95% CI 1.8-6.4), and previous abnormal sibling(s) (OR 2.4, 95% CI 1.1-5.3). Other risk factors included drug intake during pregnancy (OR 1.2, 95% CI 0.8-2.0), becoming sig- nificant with ingestion during the first trimester (OR 1.4, 95% CI 1.1-1.8). Traditional medicine (mainly Chinese herbs during pregnancy) had a slightly higher risk (OR 1.4, 95% CI 1.0-2.0). The National University Hospital keeps a register of birth defects; trained nurses inter- view all mothers using a set questionnaire. Evaluation of 11,460 livebirths over a 3-year period (1991-1993 ) revealed 472 cases (41.19 per 1,000 livebirths, 95 % CI 37.48-44.90) with 171 musculoskeletal defects (14.92 per 1,000 livebirths, 95% CI 12.69-17.16), 105 cardiovascular defects (9.16 per 1,000, 95% CI 7.41-10.91), 64 urogenital defects (5.58 per 1,000, 95% CI 4.22-6.95), 30 gastrointestinal defects (2.62 per 1000, 95% CI 1.68-3.55), 35 mixed system defects (3.06 per 1,000, 95% CI 2.04-4.07), and 18 chromo- somal abnormalities (1.57 per 1,000, 95% CI 0.85-2.30). The prevalence of cleft lipicleft lip and palate was 1.48 per 1,000. This higher prevalence could be due to the present practice of routine screening of every infant on the first day of life, together with a careful assessment for musculoskeletal defects, especially congenital dislocation of the hips.
  • 1996 年 36 巻 2 号 p. 65-74
    発行日: 1996年
    公開日: 2021/07/30
    ジャーナル オープンアクセス
    ABSTRACT The effects of the administration of L-camitine or coenzyme A (Co A) on valproic acid (VPA)-induced teratogenesis were examined in mice. VPA (300, 400, 500, 600, and 700 mgkg, s.c.), L-carnitine (100, 200, and 400 mgkg, s.c.), or Co A (10, 100, 200 mgkg, i.v.) was injected on day 8 of gestation (plug day = day 0). Exencephaly was induced dose-dependently by single injections of VPA. Administration of L-camitine or Co A alone at any of the dose levels tested did not induce embryocidal or teratogenic effects. In combined treatment experiments, L-camitine (400 mgkg) significantly reduced VPA (500 and 600 mgkg)-induced exencephaly, while L-carnitine did not decrease VPA- induced open eyelids. Co A (200 mag) also significantly reduced VPA-(600 mgkg) induced exencephaly. The results demonstrate the attenuation of VPA teratogenicity by L-camitine and Co A.
  • 1996 年 36 巻 2 号 p. 75-81
    発行日: 1996年
    公開日: 2021/07/30
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    ABSTRACT Ten hands of six patients with only a single digit retained on the radial side of the cleft were observed from a group of 63 patients with typical cleft hand. All patients were bilaterally involved, and five were complicated with cleft foot. There were two types of retained thumb: a triphalangeal thumb with characteristic metacarpal bone(s), six hands of four patients; and a normal diphalangeal thumb, four hands of two patients. The meta- carpal and distal phalangeal bone(s) of the triphalangeal thumb in typical cleft hand had signs of digital ray union: double epiphysis, deltametacarpal, bifurcated or perforated distal phalanx.
  • 1996 年 36 巻 2 号 p. 83-94
    発行日: 1996年
    公開日: 2021/07/30
    ジャーナル オープンアクセス
    ABSTRACT The effects of ethylnitrosourea (ENU) on the development of preimplanta- tion mouse embryos were investigated. ICR mice were treated intraperitoneally with single doses of 25, 50 or 100 mg ENU/kg body weight on day 0, 1, 2 or 3 of gestation, or with single doses of 25, 50 or 75 mg ENU/kg on day 8 of gestation. The uterine contents were examined on day 18 of gestation, and viable fetuses were inspected for external and skeletal malformations. No significant differences were observed in the number of im- plants between the ENU-treated groups on day 1, 2 or 3 of gestation and controls, while the number of implants in all of the groups treated with ENU on day 0 of gestation was significantly decreased compared to that in the control group. The frequencies of early postimplantation deaths were significantly increased in all of the groups treated with ENU on each gestational day before implantation, compared to the control frequencies. ENU treatment before implantation caused dose-dependent increases in the incidence of exter- nally or skeletally malformed fetuses. Cleft palate, exencephaly and umbilical hernia were the most common types of external malformations in the groups treated with ENU before implantation and in the control group. The skeletal malformations seen in the ENU-treated groups were malformed vertebrae, malformed ribs, and bending of appendicular skeleton. Fused ribs was the most common skeletal malformation seen in the control fetuses. The type distributions of external and skeletal malformations induced by the treatment with ENU before implantation is quite different from those of fetal malformations induced by the treatment with ENU at the organogenesis stage. The results in the present study demonstrate that embryos before implantation in the uterus are susceptible with regard to the induction of congenital malformations by chemicals, and I propose that a large portion of the external malformations in fetuses treated at the preimplantation stages is the result of increased yields of spontaneously-occurring malformations.
  • 1996 年 36 巻 2 号 p. 95-97
    発行日: 1996年
    公開日: 2021/07/30
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  • 1996 年 36 巻 2 号 p. 106
    発行日: 1996年
    公開日: 2021/07/30
    ジャーナル オープンアクセス
  • 1996 年 36 巻 2 号 p. 109-110
    発行日: 1996年
    公開日: 2021/07/30
    ジャーナル オープンアクセス
  • 1996 年 36 巻 2 号 p. 111
    発行日: 1996年
    公開日: 2021/07/30
    ジャーナル オープンアクセス
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