official journal of Congeital Anomalies Research Association of Japan
Online ISSN : 2433-1503
Print ISSN : 0037-2285
Volume 17 , Issue 1
Showing 1-19 articles out of 19 articles from the selected issue
  • Type: Cover
    1977 Volume 17 Issue 1 Pages Cover1-
    Published: March 30, 1977
    Released: February 01, 2019
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  • Type: Appendix
    1977 Volume 17 Issue 1 Pages App1-
    Published: March 30, 1977
    Released: February 01, 2019
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  • Type: Index
    1977 Volume 17 Issue 1 Pages Toc1-
    Published: March 30, 1977
    Released: February 01, 2019
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  • R.James MILLER
    Type: Article
    1977 Volume 17 Issue 1 Pages 1-12
    Published: March 30, 1977
    Released: February 01, 2019
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    The thalidomide episode of the early 1960s stimulated many countries to develop monitoring systems for birth defects. Over the past 10 years several such systems have developed throughout the world. Although all of these share a common goal, namely, the early detection of increased rates of specific congenital defects followed by the rapid detection and removal of the responsible teratogen, the manner in which this is accomplished varies from system to system. The directors of these various programs have met three times to discuss common problems, differences in methodology, prospects of better cooperation in exchange of information, etc. In order to facilitate exchange of information the National Foundation-March of Dimes has established The International Clearinghouse for Birth Defects Monitoring Systems. Participating countries include Canada, Finland, France, Hungary, Israel, Norway, Sweden, England and Wales, and the United States. In addition, several other countries are about to establish monitoring programs or are carrying out exploratory pilot projects. Any country about to consider the development of a monitoring system should examine carefully the existing programs and benefit by their experience. In this paper, an overview of the subject, a review of existing monitoring systems, and a consideration of facts that must be taken into consideration in the development of new programs will be presented.
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  • Ujihiro MURAKAMI
    Type: Article
    1977 Volume 17 Issue 1 Pages 13-29
    Published: March 30, 1977
    Released: February 01, 2019
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    The author began his genetic study on hereditary disorders of the nervous system in 1938 in the First Department of Internal Medicine, Nagoya Medical College. While he had been examining family members with the above disorders, he recognized that besides major hereditary traits, in some cases, malformations and minor anomalies were also observed not only in victims but also in seemingly healthy relatives. Among these anomalies, there were many which were said to belong to the "Status dysraphicus" which was stressed by German investigators. "Status dysraphicus" was the term for an anomaly group which supposedly resulted from failure in closure of the neural tube. By 1940, Panse of Germany, advocated a hypothesis called "Zwischenhimorganizationsfeld". Panse also thought that anomalous conditions might be caused by malinduction of the diencephalon in embryogenesis. As these two hypotheses had no experimental foundation, the author attempted to examine them by means of animel experiments. In 1950, he became a member of the Research Institute of Environmental Medicine, Nagoya University and had an opportunity to conduct animal experiments. Thereafter, besides studies in human genetics, he had been carrying out comparative developmental pathology especially on the central nervous system.
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  • Masaki MIYAMOTO, Takashi SAKAGUCHI, Osamu MIDORIKAWA
    Type: Article
    1977 Volume 17 Issue 1 Pages 31-37
    Published: March 30, 1977
    Released: February 01, 2019
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    When glibenclamide, tolbutamide and chlorpropamide were orally administered to pregnant rats from day 9 to day 14 of gestation, microphthalmia and/or anophthalmia were induced in the offspring by each of the drugs, although the incidence was low with all three. Subcutaneous administration of long-acting insulin from day 9 to day 11 of gestation also induced similar eye malformations. The frequency of the eye malformation was lower in the offspring of rats receiving glibenclamide on days 6 - 15 of gestation than in those of animals receiving the drug on days 9 - 14 of gestation. No malformations were observed when glibenclamide was given on days 9 - 14 of gestation after a pretreatment with tolbutamide on days 6 - 8 of gestation. The blood glucose level was significantly lowered for more than 24 hr after a single dose of 300mg/kg of glibenclamide, which was quite comparable to the effect of 50 IU/body of insulin. However, when 300mg/kg of glibenclamide was administered for 3 consecutive days, the third dose had much less effect on the blood glucose level than the first one. Our study suggested that the eye malformations induced by the sulfonylureas in the offspring, as well as by insulin, might be closely related to hypoglycemia which was brought about in the maternal rats by the drug administration from day 9.
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  • Roberts RUGH, Mary MCMANAWAY
    Type: Article
    1977 Volume 17 Issue 1 Pages 39-45
    Published: March 30, 1977
    Released: February 01, 2019
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    A single sub-lethal exposure to a mean of 7.2 watts forward power of 2450 MHZ microwave radiation for 4 minutes of pregnant mice on gestation days 0 to 11 inclusive showed that when all damage to implantations was considered, that gestation day 8 showed 68% of all embryos damaged when compared with the controls showing only 22% failed to develop normally. This included dead and resorbed embryos and surviving anomalies of a gross nature. The prime effect on days 3 and 10 was killing. When anomalies alone were considered it was found that days 4 and 8 showed definite but minimal statistically significant increments when compared with the controls, the primary anomalous condition being stunting. There was no statistical significance in the resorption data. This differential effect at different gestation days might indicate a different thermal sensitivity of embryos stressed with thermal levels of radiation.
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  • Kunio KAWASHIMA, Shinsuke NAKAMURA, Shigeyuki NAGAO, Satoru TANAKA, Ts ...
    Type: Article
    1977 Volume 17 Issue 1 Pages 47-51
    Published: March 30, 1977
    Released: February 01, 2019
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    The anogenital distance of female rat fetus on the 21st day of gestation was measured by sliding caliper (macroscopic method) or on the sagittal sections of. the pelvic region of female fetus under a microscope equipped with a micrometer (microscopic method). The anogenital distances of 190 intact female fetuses were 1.07±0.21mm with macroscopic method and 0.72±0.13mm with microscopic method, respectively, and also significant correlations were observed between the fetal body weight and the anogenital distance. Following maternal subcutaneous administrations of various doses of norethandrolone and methyltestosterone for 4 days from the 17th to 20th day of gestation, dose dependent extensions in the anogenital distance of female fetuses were observed, but macroscopic method showed a remarkably less sensitivity compared with microscopic method. The log-dose-response relationships were obtained on the relative values of the anogenital distance to the fetal body weight with microscopic method, and the relative potency of norethandrolone to methyltestosterone was assumed to be 0.191 with fiducial limits of 0.135-0.257.
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  • Mutsuhiro FURUTA, Hitoshi ASAMOTO
    Type: Article
    1977 Volume 17 Issue 1 Pages 53-62
    Published: March 30, 1977
    Released: February 01, 2019
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    Three cases of Zellweger's syndrome were reported. We reviewed the articles of Zellweger's syndrome up to 1976 and described chiefly the pathological findings of brain, liver and kidney. Recently, case reports related to DiGeorge's syndreme and/or Lowe's syndrome have appeared. Clinically, three cases on which we reported showed severe hypotonia and typical facial findings of Zellweger's syndrome in case I and 2, but there was little differences on facial findings of case 3 which showed partial defect of the thymus gland (association of both Zellweger and DiGeorge's syndrome). Pathologically, three cases showed quite similar findings in the abnormality of the cerebral gyri and subependymal cysts in the brain. The liver showed iron pigment deposition in some liver cells and Kupffer's cells. Elevated serum iron and copper in case 1 and elevated serum copper in case 2 were recognized. There were scattered renal cortical cysts measuring up to approximately 1mm in diameter in all three cases. The cysts were chiefly tubular type and they were most intense in case 3. Some of these cortical cysts were surrounded by thick fibrous wall. Pancreas with hypertrophy and hyperplasia of islands of Langerhans were noted in all three cases and some kinds of abnormality of the heart were also seen in all three. The most essential subject of the cerebro-hepato-renal syndrome was thought to be metabolic disorders due to gene anomaly, and the most significant finding seems to be the existence of the renal cortical cysts.
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  • Tsutomu FUKUSHIMA, Kenichi HATA, Kimio NEMOTO, Jin HONDA, Junichi MURA ...
    Type: Article
    1977 Volume 17 Issue 1 Pages 63-65
    Published: March 30, 1977
    Released: February 01, 2019
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    A female infant diagnosed as the cri-du-chat syndrome showed a short arm deletion of chromosome 5. Her karyotype was a 46,XX,del (5) (p14). Both the phenotype and karyotype of her parents were normal.
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  • Norihiko OKAMOTO, Kazushige NAKAMURA
    Type: Article
    1977 Volume 17 Issue 1 Pages 67-69
    Published: March 30, 1977
    Released: February 01, 2019
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  • Ikuo TAKEUCHI
    Type: Article
    1977 Volume 17 Issue 1 Pages 71-77
    Published: March 30, 1977
    Released: February 01, 2019
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  • [in Japanese], [in Japanese]
    Type: Article
    1977 Volume 17 Issue 1 Pages 79-89
    Published: March 30, 1977
    Released: February 01, 2019
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  • Type: Bibliography
    1977 Volume 17 Issue 1 Pages 91-163
    Published: March 30, 1977
    Released: February 01, 2019
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  • Type: Appendix
    1977 Volume 17 Issue 1 Pages 164-
    Published: March 30, 1977
    Released: February 01, 2019
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  • Type: Bibliography
    1977 Volume 17 Issue 1 Pages 165-
    Published: March 30, 1977
    Released: February 01, 2019
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  • Type: Appendix
    1977 Volume 17 Issue 1 Pages App2-
    Published: March 30, 1977
    Released: February 01, 2019
    JOURNAL FREE ACCESS
    Download PDF (371K)
  • Type: Cover
    1977 Volume 17 Issue 1 Pages Cover2-
    Published: March 30, 1977
    Released: February 01, 2019
    JOURNAL FREE ACCESS
    Download PDF (48K)
  • Type: Cover
    1977 Volume 17 Issue 1 Pages Cover3-
    Published: March 30, 1977
    Released: February 01, 2019
    JOURNAL FREE ACCESS
    Download PDF (48K)
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