日本先天異常学会会報
Online ISSN : 2433-1503
Print ISSN : 0037-2285
39 巻 , 2 号
Congenital Anomalies
選択された号の論文の4件中1~4を表示しています
  • 1999 年 39 巻 2 号 p. 49-57
    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 Among a range of inherited skin disorders, some of markedly severe phenotypes have been widely considered as indications for prenatal diagnoses. Recent studies have achieved significant progress in understanding the molecular basis of these heritable skin diseases. These include epidermolysis bullosa (EB), a group of mechano- bullous genodermatoses, ichthyosis, a heterogeneous condition of generalized hyperkeratosis, and oculocutaneous albinism, in which an abnormal melanin synthesis in the skin and eyes is a hallmark. The responsible gene for the dystrophic forms of EB has been identified as a gene encoding type VII collagen, for lethal Herlitz EB the genes encoding the a3, p3, or y2 chain of laminin 5, for pyloric-atresia juctional EB syndrome the genes encoding the a6 or p4 integrins, and for tyrosinase negative oculocutaneous albinism the tyrosinase gene. Specific mutations in the responsible gene or genes have implications for understanding the structure-function relationship and phenotype/genotype correlation of each disorder, and also provide the basis for DNA-based diagnoses as well as prenatal diagnoses for families at risk of a recurrence of the disease. Furthermore, understanding the genetic basis of each inherited skin disease sets the stage for gene therapy approaches for the treatment of the respective condition.
  • 1999 年 39 巻 2 号 p. 59-73
    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 This paper reviews studies in the radiofrequency spectrum which includes radiation from cellular telephones and other wireless networks. Modern mobile communications technology uses pulsed digital systems operating at frequencies of 900-1.800 MHz. Although there are some reports that pulsed exposures may be more likely to produce biological effects than an equivalent energy deposition from continuous wave, there are relatively few data relevant to the frequency or the pulsing conditions used in telecommunications. Most of the literature on teratological studies on animals reports results of continuous wave transmission, 2,450 MHz (microwave oven frequency), at substantial levels of exposure; exceeding internationally prescribed safety levels for radio- frequency radiation (RFR). Gross developmental anomalies were associated with significant increases above normal in embryonic or fetal temperature. The issue of possible athermal effects has not been properly resolved. Although it is now largely accepted that some biological responses to RFR occur at levels below which thermal mechanisms may be implicated, the absence of relevant directed research programs prevents sensible scientific conclusions on the consistency of data and their relevance to human health. Considering these limitations, there is no convincing independently verified evidence that exposures to RFR from current mobile telecommunications technology presents a serious health risk to human prenatal development.
  • 1999 年 39 巻 2 号 p. 75-87
    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 Congenital diaphragmatic hernia is the only relatively common congenital malformation which requires operative treatment during the neonatal period, and the incidence is reported to be one in 2,00&5,000 births. Although a diaphragmatic defect can be easily corrected by pulling out the herniated viscera of the chest and closing the diaphragma, the mortality rate of infants with congenital diaphragmatic hernia is high despite improvements in neonatal intensive care, because the hypoplastic lungs on the affected side can not provide life support after birth. The severity of associated pulmonary hypoplasia is the most important factor determining survival in an infant with congenital diaphragmatic hernia. From experimental study, it should be emphasized that retardation in the lung growth, regardless of its potential for further growth, just at the time of pleuroperitoneal canal closure, may result in congenital diaphragmatic hernia; the hypoplastic lung on the side of herniation would not result from the compression of the lung by the herniated organs, but it may be induced by the limited space for further growth.
  • 1999 年 39 巻 2 号 p. 89-106
    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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