日本先天異常学会会報
Online ISSN : 2433-1503
Print ISSN : 0037-2285
25 巻 , 4 号
Congenital Anomalies
選択された号の論文の15件中1~15を表示しています
  • 1985 年 25 巻 4 号 p. 261-281
    発行日: 1985年
    公開日: 2021/07/20
    ジャーナル オープンアクセス
    ABSTRACT The Japanese Teratology Society (Nihon Senten Ijo Gakkai in Japanese, Congenital Anomalies Research Association of Japan in English until 1980) was founded in Tokyo on August 3, 1961, and in 1985, the 25th Anniversary of the Society was celebrated under the Presidency of Dr. Takashi Tanimura, who has served in the general affairs in the office since the beginning of the Society. Taking the opportunity to give the Presidential lecture at the 25th Annual Meeting held on July 11-13, 1985, the past of the Society was looked back upon hoping to make it the foundation for the advance toward the 21st Century. Teratological researches before the establishment of the Society were reviewed and how the Society was officially formed was presented. Main events of activities of the Society were listed and data on general affairs, publication and papers presented at the Annual Meetings were summarized. The Japanese Teratology Society has been developed by the multidisciplinary cooperation of scientists in clinical and basic medicines as well as other natural sciences. It is stressed that we should more strengthen the international collaboration with Teratology Society in USA, European Teratology Society and other organizations through the International Federation of Teratology Societies to achieve the prevention of congenital anomalies.
  • 1985 年 25 巻 4 号 p. 283-289
    発行日: 1985年
    公開日: 2021/07/20
    ジャーナル オープンアクセス
    ABSTRACT An analysis of 1,103 fetal and postnatal deaths from spina bifida during 1969-1975 is presented. The overall birth prevalence rate was 0.75 per 10,000 births and was slightly higher in the southwest than in the northeast of Japan. Social class variation in the prevalence rate during the period was studied. Geographical variation in the prevaIence rate of spina bifida is not similar to that of anencephaly, whereas the social class variations in the prevalence rate of the two defects are similar.
  • 1985 年 25 巻 4 号 p. 291-295
    発行日: 1985年
    公開日: 2021/07/20
    ジャーナル オープンアクセス
    ABSTRACT The amount of refractive errors, visual acuity, fundus findings, age of onset and other relevant data were examined in 614 cases of myopia, at the Department of Ophthalmology in Juntendo University. Twenty-seven per cent (27/100 cases) among high myopia (-15.OD +_ 7.5D) with typical chorio-retinal atrophy and 20 % (55/275 cases) of myopia (-12.7D f 6.4D) without typical myopic atrophy had onset at 4 yrs old or younger. However, there was no case whose age of onset was 4 yrs old or younger among 239 cases of myopia with 5D or weaker. All of them had onset in 7 yrs old or older. The average corrected visual acuity became worse as the patient became older, especially in 'high myopia with chorio-retinal atrophy, it was (0.4-0.5 already in childhood and about 0.2 in 40 yrs old or older). However, the corrected visual acuity in high myopia without typical myopic atrophy was kept comparatively good (about 0.7 in 40s or younger and 0.4 in 60s or older). Degree of myopia increased significantly by age, but stopped at around the 40s. These facts show that early age of onset of high myopia is very important.
  • 1985 年 25 巻 4 号 p. 297-304
    発行日: 1985年
    公開日: 2021/07/20
    ジャーナル オープンアクセス
    ABSTRACT Single dose of 0.6 or 1.2 mg/kg of rubratoxin B was administered intraperitoneally into the pregnant Slc: ICR mice on one day between day 6 and day 9 of gestation, and the fetuses were examined on day 18 of gestation. Gross malformations produced were neural tube defects, omphalocele, cleft palate, short or kinky tail, clubfoot and micromelia. Razor blade sections revealed dysgenetic hydrocephaly, microphthalmia, anophthalmia, renal hypoplasia, unilateral absence of kidney and uterine horn hypoplasia, ventricular septa1 defect (VSD) and apex bifida of the heart. Skeletal specimens showed dislocation, deformity, fusion, splitting or absence of vertebral bodies, fusion of vertebral arches, fused ribs, and scoliosis. Delayed ossification of axial and appendicular skeleton was also noted. The sensitive periods for the above rubratoxin B-induced malformations were restricted in the beginning of organogenetic period. No rubratoxin B-specific type of malformations was found.
  • 1985 年 25 巻 4 号 p. 305-310
    発行日: 1985年
    公開日: 2021/07/20
    ジャーナル オープンアクセス
    ABSTRACT The most recent work from our own laboratory and also the.very large studies carried out by the FDA have clearly shown that caffeine has teratogenic effects in animals only when given in very high single daily doses. The doses necessary to produce teratogenic effects are of the order of one-third the oral LD50 and usually produce other signs of severe maternal toxicity. Much larger daily doses if administered in divided doses or spread throughout the day in the drinking water, do not produce teratogenic effects. The teratogenic activity is dependent on the production of high peak blood levels probably around 60pg/ml or greater. Since such levels are never approached in humans even with high caffeine intakes, and on the basis of the available epidemiological evidence it would not appear that caffeine presents a teratogenic hazard for humans. The available animal evidence suggests that high concentrations of caffeine in the embryo may cause haemorrhages which could be the mechanism of action whereby it causes the palatal and digital defects which have been observed. Other actions of caffeine which have been observed in animal experiments have been reduction in fetal weight and associated retardation of ossification. These effects are seen with lower doses of caffeine than those causing teratogenic effects. The significance of these observations for humans is uncertain and is currently under investigation.
  • 1985 年 25 巻 4 号 p. 311-317
    発行日: 1985年
    公開日: 2021/07/20
    ジャーナル オープンアクセス
    ABSTRACT In order to analyze the role of enhancer sequence for the tissuespecific and stage specific expression of immunoglobulin gene in normal diploid cells we have introduced cloned human yl immunoglobulin genes into fertilized mouse eggs. Human yl genes lacking enhancer sequence were not expressed in any tissues of transgenic mice. On the other hand human yl genes containing enhancer sequence were expressed only in B lymphocytes. Levels of HIGI mRNA and percentage of human y chain producing cells in spleen cells were increased up to 50 times after treatment with lipopolysaccharide but not with Concanavalin A, suggesting B cell specific and regulated expression of HIGI gene. Human y chain producing cells were only found in the periphery of germinal center of the white pulp in histological section of the spleen suggesting stage-specific expression. Human y chains appeared to be coupled with mouse light chains to form a complete IgG molecule and are secreted into cell supernatant. The production and secretion of endogenous immunoglobulin heavy and light chains in transgenic mice appeared to be the same as in normal mice. About one-seventh of spleen cells that are producing endogenous mouse heavy chain produced human yl chain at the same time. But no cell which produce only human y chain was observed. These results suggest that human y chain expression had no effect on mouse immunoglobulin expression.
  • 1985 年 25 巻 4 号 p. 319-326
    発行日: 1985年
    公開日: 2021/07/20
    ジャーナル オープンアクセス
    ABSTRACT In vitro culture methods make it possible to manipulate mammalian embryos experimentally, and continuous observation of the developmental processes furnishes significant information for mammalian embryology. The advancement in the culture methods of the mouse embryos from the pre-implantation through the limb bud stage is reported here, along with a description of one of the applied experiments of embryo culture from the pre-implantation stage in the Chinese hamster. A few mouse embryos at the limb bud stage cultured for 10 or 11 days from the blastocyst stage were obtained, but the frequencies were very low. There is a barrier to assure further development in the stationary culture of mouse blastocysts till the formation of early egg cylinder. It was suggested that trophectoderm inhibited the development of inner cell masses by enveloping them, but embryos could not develop without trophectoderm afterwards. After the egg cylinder or primitive streak stage, the medium and gas around the embryos needed to be exchanged with rotation or shaking. Chinese hamster blastocysts could be cultured as late as the early egg cylinder stage with methods similar those employed with mouse blastocysts. Sonta (1982) has established several lines of Chinese hamster bearing various reciprocal translocations. Thus, one can obtain embryos with abnormal karyotypes from these parents. By cultivation of these embryos from the pre-implantation stage, the present authors investigated the relationship between the developmental failures and the chromosomal abnormalities.
  • 1985 年 25 巻 4 号 p. 327-334
    発行日: 1985年
    公開日: 2021/07/20
    ジャーナル オープンアクセス
    ABSTRACT Fetoscopy has not been familiar in Japan, probably due to the low frequency of its major indicated disorders. Recently this technique is drawing the interest by its unique ability to approach to the fetus directly. In this circumstance, fetoscopy itself, the indications, the usage in fetal therapy, and fetal electrocardiogram as an expanded apprication of fetoscopy are presented.
  • 1985 年 25 巻 4 号 p. 335-342
    発行日: 1985年
    公開日: 2021/07/20
    ジャーナル オープンアクセス
    ABSTRACT The present study deals with the physiological significance of changes of the constituents with fetal development and establishes newer methods of diagnosing fetal disease and maturity. ABH(0) blood group substances as a genetic marker were studied and the substances in the amniotic fluid consistently matched the blood type and secretor status of newborn. No blood group substances were detected in non-secretors. Moreover, A- and B- gene-specific enzyme activities in the amniotic fluid were demonstrated to coincide with the newborn type regardless of the maternal type. Rh(D) antigen in the amniotic fluid also proved to be fetal in origin. Such markers as acid protease, amylase, disaccaridases and ultra violet absorbing constituents were demonstrated to be useful in diagnosising fetal maturity and/or anomalies.
  • 1985 年 25 巻 4 号 p. 343-356
    発行日: 1985年
    公開日: 2021/07/20
    ジャーナル オープンアクセス
    ABSTRACT The congenital anomaly resulting from chromosomal aberrations is serious and well-known. The incidence in newborn infants is estimated to be 0.5-1% (WHO). In many cases the mechanism causing a chromosomal aberration is unknown. There appear to be the protective procedures. The procedure that fetal cells obtained by midtrimester amniocentesis could be grown in culture and karyotyped has opened a new area to genetic counseling for chromosomal aberrations. In the past 15 years, 949 pregnant women have undergone amniocentesis in our hospital. Most institutes now employ ultrasonography for examinations of the fetal position and the localization of placenta prior to amniocentesis. The use of this device remarkably reduced the incidence of fetal loss, and the amniocentesis appears to be safe and efficient. A discrepancy has been noted between the rates of chromosomal aberration by diagnosed at amniocentesis and the rates that would be expected from observation in live births. Multiple regression analysis was performed based on the personal informations of mother, providing what may be the risk factors for the recurrence of sibling with a non-inhetrited chromosomal aberration. Recently, the technique to obtain chorionic villus in early pregnancy for the prenatal diagnosis of fetal defects, now being tested in the United States and Europe, may replace midtrimester amniocentesis within the next few years. The main advantage is that it can reduce the psychologic impact because emotional and physical stresses of a midtrimester abortion are serious problems. There are many possible approaches to obtain chorionic villus sample. Our experience has shown that biopsy forceps inserted via the cervix is most successful. The possibility was discussed that this may be developed in the future for clinical use as an alternative to amniocentesis.
  • 1985 年 25 巻 4 号 p. 357-365
    発行日: 1985年
    公開日: 2021/07/20
    ジャーナル オープンアクセス
    ABSTRACT Three types of approach to prenatal diagnosis by DNA analysis were described with drawing on examples from sickle cell anemia and thalassemias. The first approach is to detect the change of the restriction pattern of fetal DNA due to the mutation. One type of 60-thalassemia mutation was detected by Southern blotting analysis of genomic DNA when probed with a radiolabeled globin gene because of a large deletion in the 0-globin gene cluster. Since the sickle mutation altered the recognition :ite of MstII in the 0-globin gene, Southern blot of MstII digest of DNA from a homozygote hybridized with a 1.15 kb MstII 0-globin gene sequence yielded autoradiograms with a 1.35 kb fragment instead of a normal 1.15 kb fragment. The second approach is based upon the feasibility of using synthetic oligonucleotide probes to detect single base mismatches. Two synthetic 19 nucleotide long oilgonucleotide probes, one complementary to the normal human 0-globin gene sequence and one complementary to a 0-thalassemia gene sequence (a C-T substitution at position 654 of IVS2) were used to distinguish between the normal and thalassemia genes in BamHI digests of genomic DNAs. Linkage analysis using restriction fragment length polymorphisms (RFLPs) in the P-globin gene cluster provides the third approach to prenatal diagnosis by DNA analysis. Allele-linked RFLPs are only available for detection of the sickle mutation and one type of nonsense mutation of 0-thalassemia in limited populations. Familial-linked RFLPs have been used for prenatal diagnosis of 0-thalassemias because 17 polymorphic restriction enzyme cleavage sites were identified in the P-globin gene cluster. ‘This approach is also applicable to prenatal diagnosis of genetic disorders in whch the gene products responsible for pathogenesis have not been identified. However, a possibility of diagnosis by this approach depends on RFLPs of parents. Further technical development to simplify the DNA analysis will facilitate clinical use of DNA analysis in prenatal diagnosis.
  • 1985 年 25 巻 4 号 p. 367-376
    発行日: 1985年
    公開日: 2021/07/20
    ジャーナル オープンアクセス
    ABSTRACT Lead and methylmercury are environmental hazards known to have deleterious effects on thie development of fetuses. In the recent decades, increasing concern has been expressed over the behavioral teratogenesis of these heavy metals. The present paper discusses some of the methodological problems in investigating the mechanisms of behavioral teratogenesis of lead and methylmercury; i.e., 1) metabolism of the substances in pregnant animals, together with fetal and neonatal exposure, 2) ages of offspring to be examined, and 3) selection of behavioral measures. Perspectives on dose-effect relationships of behavioral teratology of these heavy metals are provided, by reviewing selected papers concerning behavioral teratology of lead and methylmercury.
  • 1985 年 25 巻 4 号 p. 377-382
    発行日: 1985年
    公開日: 2021/07/20
    ジャーナル オープンアクセス
    ABSTRACT Several issues related to two possible approaches in the data analysis was discussed: Using individual scores (per subject approach) or litter mean scores (per litter approach), as the basic unit of analysis. Correlations among litter mates, and magnitudes of type I error rate distortion when individual scores instead of litter mean scores were: employed, were discussed. It is advisable to assess the dependence of animals among litter mates for the data obtained in the respective studies. Statistical power and magnitude of eta squared associated with the two approaches were discussed. The per litter approach produces more reliable results by aggregation.
  • 1985 年 25 巻 4 号 p. 383-392
    発行日: 1985年
    公開日: 2021/07/20
    ジャーナル オープンアクセス
    ABSTRACT Polysomnography in 3 1 patients with cerebral malformations was performed. In 9 cases, the hormone secretion rhythms during sleep (GH, PRL, LH, FSH and ACTH and/or cortisol) were examined. EEG showed abnormalities in 27 of the 31 pathologic patients. A defect and poor presentation of the sleep spindle was observed in 20 cases. Patients with cerebral malformations appeared to be poor sleepers. The amount and number of wakefulness increased. A decrease in REM sleep period was observed in 19 of the 36 records. 17 of the 31 pathologic patients showed abnormal proportions of time spent in the different stages of sleep with respect to the total sleeping time. 15 of the 31 pathologic patients showed more than one discrepant cycling of sleep parameters. Abnormal hormone secretion was observed in all 9 patients who were examined. The above results show that patients with cerebral malformations have various abnormalities of sleep behaviors, and that polysomnography is useful for studying sleep behavior in patinets with cerebral malformations.
  • 1985 年 25 巻 4 号 p. 393-398
    発行日: 1985年
    公開日: 2021/07/20
    ジャーナル オープンアクセス
    ABSTRACT A comparison study of maternal characteristics in a sample of mentally retarded children and in paired non-retarded children from epileptic and psychotic mothers matched. for sex, age and living area was done. Thirty-two children of epileptic mothers and 42 children of psychotic mothers were classified into three and two groups according to the presence of mental retardation, respectively. The frequency of maternal epileptic seizure during pregnancy was significantly higher in the mentally retarded offspring group than in the other two groups. Almost all seizures of the mothers of children with mental retardation were taken for a type of generalized motor seizures. Generalized motor seizures during pregnancy and maternal lower mental condition would be a risk factor of mental retardation in the offspring. An impressive difference between the groups of offsprings of psychotic mothers was observed during the offspring’s infancy. About 71 per cent in the group of children with mental retardation was brought up by their mostly psychotic mothers during infancy. Many of the children without mental retardation were raised in foster home care. These facts would imply that some behaviour in the children with mental retardation could be related to postnatal environmental abnormal factors.
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