日本先天異常学会会報
Online ISSN : 2433-1503
Print ISSN : 0037-2285
51 巻 , 3 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
  • 2011 年 51 巻 3 号 p. 101
    発行日: 2011年
    公開日: 2021/08/19
    ジャーナル オープンアクセス
  • 2011 年 51 巻 3 号 p. 102-109
    発行日: 2011年
    公開日: 2021/08/19
    ジャーナル オープンアクセス
    Abstract The bulbourethral gland (BUG) is a male-specific organ, which secretes part of the semen fluid. As the BUG is located in the deep pelvic floor, its developmental process is still unclear. Bone morphogenetic protein (Bmp) signaling plays pivotal roles in various organs. However, the function of Bmp signaling for BUG development is still unclear. The present study aimed to elucidate the role of Bmp signaling in the development of the BUG. We observed the prominent nuclear accumulation of phosphorylated (p) SMAD1/5/8, the downstream molecules of Bmp signaling, during BUG epithelial development. These results suggest that Bmp signaling contributes to BUG development. Bmp receptor1a (Bmpr1a) is known as the major type 1 signal transducer in some organogeneses. To analyze the Bmp signaling function for BUG development, we examined epithelial cell-specific Bmpr1a gene conditional mutant mice utilizing the tamoxifen-inducible Cre recombinase system. We observed cystic dilation and epithelial hyperplasia of the BUG in the Bmpr1a conditional knockout mice. The mutant cystic BUG specimens also showed inflammatory lesions. These BUG abnormalities resembled some of the BUG malformations observed in human congenital syndromes. The current study suggests that Bmp signaling possesses an essential role in BUG development and homeostasis. This would be the first report showing that the mutation of the Bmpr1a gene in the BUG epithelia phenocopied some abnormalities of human congenital syndromes affecting the BUG duct.
  • 2011 年 51 巻 3 号 p. 110-125
    発行日: 2011年
    公開日: 2021/08/19
    ジャーナル オープンアクセス
    ABSTRACT Human epidemiological evidence has led scientists to theorize that undernutrition during gestation is an important early origin of adult diseases. Animal models have successfully demonstrated that maternal diet could contribute to some adult diseases. Undernutrition is perceived harmful in pregnant women, whereas calorie restriction is a strategy proven to extend healthy and maximum lifespan in adult. This diagrammatically opposite effect of nutritional condition might provide us with hints to search for genes underlying health conditions. Here, we have initiated a study examining the effect of undernutrition on maternal and fetal livers, utilizing high-throughput DNA microarray analysis for screening genome-wide changes in their transcriptomes. Briefly, pregnant mice were exposed to food deprivation (FD) on gestation day (GD) 17, and cesarean section was performed on GD18. Control mice were supplied with chow ad libitum until sacrifice. Total RNA extracted from mother and fetal livers for each control and treatment (FD) was analyzed with an Agilent mouse whole genome DNA chip. A total of 3058 and 3126 up- (<1.5-fold) and down- (<0.75-fold) regulated genes, and 1475 and 1225 up- (<1.5-fold) and down- (<0.75-fold) regulated genes showed differential expression at the mRNA level, in the maternal and fetal livers, respectively. Interestingly, 103 genes up-regulated in the mother were down-regulated in the fetus, whereas 108 down-regulated maternal genes were up-regulated in the fetus; these 211 genes are potential candidates related to longevity or health. The role of some of these genes, in context of the proposed mechanisms for developmental origins of health and disease is discussed.
  • 2011 年 51 巻 3 号 p. 126-137
    発行日: 2011年
    公開日: 2021/08/19
    ジャーナル オープンアクセス
    ABSTRACT The objective of this study was to evaluate the possible association of drug treatments in pregnant women with a higher risk of congenital abnormalities of the external ear, particularly microtia/anotia, in their children. The frequency of drug treatments was compared in the mothers of cases with isolated or multiple (syndromic) ear abnormalities and in the mothers of three different controls: controls matched to cases, all controls (these controls had no defects) and malformed controls in the population-based large dataset of the Hungarian Case-Control Surveillance of Congenital Abnormalities. There was no significantly higher use of any drug in the mothers of 354 cases with isolated external ear abnormalities than in the mothers of different controls. However, of 156 cases with multiple ear abnormalities, 11 had mothers with hydroxyethylrutosidea treatment and a characteristic pattern of congenital abnormalities was found in these children. Four cases with multiple ear abnormalities were born to epileptic mothers treated with valproate, phenytoin and polytherapy in two cases. Drug treatments are not important in the origin of isolated ear abnormalities. However, a higher risk of multiple ear abnormalities was found in children born to mothers with treatment of hydroxyethylrutosidea or antiepileptic drugs during pregnancy.
  • 2011 年 51 巻 3 号 p. 138-148
    発行日: 2011年
    公開日: 2021/08/19
    ジャーナル オープンアクセス
    ABSTRACT Congenital anomalies of the brain frequently correspond to cranial base anomalies, and a detailed description of morphology and individual variations in the developing cranial base is of clinical importance for diagnosing anomalies. Development of the human cranial base has been studied using dissection, computed tomography, and magnetic resonance imaging, each of which has advantages and disadvantages. We here examined development of the normal human fetal cranial base using bone staining, which allows for direct observation of the ossification centers and precise three-dimensional measurements. We observed alizarin red S-stained sphenoids and basiocciputs of 22 normal formalin-fixed human fetuses with crown-rump lengths (CRL) of 115–175 mm. We defined landmarks and measured sphenoids and basiocciputs using a fine caliper. Growth patterns of these ossifying bones were obtained, and we found similarities and differences among the growth patterns. We also observed individual variations in the ossification patterns, in particular, single- or double-ossification center patterns for the basisphenoid. The orbitosphenoid and basisphenoid widths and ratios of the widths to the total cranial base width were significantly different between the two pattern groups, whereas the other measurements and their ratios to the total cranial base did not differ between the groups. We measured the cerebrum and pons in different sets of 22 human fetuses with CRLs of 105–186 mm and found close relationships with the development of corresponding parts of the cranial base. The results contribute to the quantitative and qualitative information about the growth patterns and variations during human fetal cranial base development.
  • 2011 年 51 巻 3 号 p. 149-152
    発行日: 2011年
    公開日: 2021/08/19
    ジャーナル オープンアクセス
    Abstract Wistar Hannover rats, which are maintained by three animal breeders in Japan, were examined to obtain basic data on reproductive and developmental parameters. Untreated pregnant females were terminated on gestational day 20, and the fetuses were removed by cesarian section. The fetuses were counted, weighed and examined for morphological abnormalities. There were few differences among the three stocks of Wistar Hannover rats on the numbers of implantations and live fetuses, sex ratio and fetal weights. The most common fetal abnormalities were the presence of left-sided umbilical arteries, supernumerary ribs and wavy ribs. The incidences of these abnormalities were different among the three stocks of Wistar Hannover rats. Our results provide important data which should be considered in the determination of which stock of rat is used in developmental studies.
  • 2011 年 51 巻 3 号 p. 153-155
    発行日: 2011年
    公開日: 2021/08/19
    ジャーナル オープンアクセス
    ABSTRACT Chronic vaginal discharge in adolescent and young females, not responding to antibiotics, can pose a diagnostic dilemma for many gynecologists and general practitioners. Uterus didelphys with obstructed hemivagina and ipsilateral renal agenesis (OHVIRA syndrome) is a rare congenital anomaly. We present a case of a 22-year-old unmarried female with this syndrome presenting with chronic purulent vaginal discharge. The uniqueness about the case is its much delayed presentation.
  • 2011 年 51 巻 3 号 p. 156-159
    発行日: 2011年
    公開日: 2021/08/19
    ジャーナル オープンアクセス
    Abstract Gastroschisis is the herniation of abdominal viscera through a paramedian abdominal wall fusion defect without involvement of the umbilical cord. Evisceration usually contains intestinal loops and has no surrounding membrane. Rarely, herniation of other major viscera such as stomach and liver occurs, which makes the prognosis worse. Gastroschisis is usually not associated with sacrococcygeal teratoma. In the present report, a very rare case of gastroschisis associated with sacrococcygeal teratoma is described. The gastroschisis had complete evisceration of the stomach, bowel and extracorporeal liver. A large sacrococcygeal mass was located on the posteroinferior part of the trunk and gluteal region, and was completely external. The fetus also showed a malrotated lower limb and talipes equinovarus.
  • 2011 年 51 巻 3 号 p. 160
    発行日: 2011年
    公開日: 2021/08/19
    ジャーナル オープンアクセス
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