日本先天異常学会会報
Online ISSN : 2433-1503
Print ISSN : 0037-2285
49 巻 , 1 号
Congenital Anomalies
選択された号の論文の10件中1~10を表示しています
  • 2009 年 49 巻 1 号 p. J1
    発行日: 2009年
    公開日: 2021/08/12
    ジャーナル オープンアクセス
  • 2009 年 49 巻 1 号 p. 1-7
    発行日: 2009年
    公開日: 2021/08/12
    ジャーナル オープンアクセス
    ABSTRACT Maternal diabetes mellitus is associated with increased fetal teratogenesis, including cardiovascular defects. Non-specific maternal immune stimulation with Freund's complete adjuvant (FCA) or interferon gamma (IFNγ) has been associated with protection against birth malformations. Using a diabetic mouse model, late-gestation fetal heart and great vessel morphology were analyzed. Four groups of mice were used: non-diabetic females as a control group, hyperglycemic females induced by streptozotocin as a diabetic group, and diabetic females injected either with FCA or IFNγ. At day 17 of gestation, females were euthanized and one fetus was arbitrarily selected per litter for fixation and sectioning. Treatment-induced changes in cardiac development were assessed from digital images of serial sections taken at standardized levels in the thorax. One-way parametric and non-parametric ANOVA and ordinal logistic regression were performed to compare the difference among groups (P < 0.05). Maternal hyperglycemia altered morphology of the late-gestation fetal mouse heart by causing ventricular chamber dilation, sectional myocardial reduction, and an increase in transversal aortic area. FCA protected the fetal heart from cavitary dilation in diabetic mothers. FCA and IFNγ protected the fetal heart against reduction of myocardial area, and ascending thoracic aorta dilation. Consequences of late gestation heart chamber dilation and myocardial reduction are not yet known. Maternal immune stimulation partially protected against these developmental defects by mechanisms that remain unclear.
  • 2009 年 49 巻 1 号 p. 8-14
    発行日: 2009年
    公開日: 2021/08/12
    ジャーナル オープンアクセス
    ABSTRACT Basal cell nevus syndrome (BCNS; Gorlin syndrome) is an autosomal dominant disorder, characterized by a predisposition to neoplasms and developmental abnormalities. BCNS is caused by mutations in the human homolog of the Drosophila patched gene-1, PTCH1, which is mapped on chromosome 9q22.3. Nonsense, frameshift, in-frame deletions, splice-site, and missense mutations have been found in the syndrome. Haploinsufficiency of PTCH1, which is caused by interstitial deletion of 9q22.3, is also responsible for the syndrome. To date, 19 cases with interstitial deletion of long arm of chromosome 9 involving the region of q22 have been reported. We describe two unrelated patients with some typical features of BCNS associated with deletion of 9q21.33-q31.1 and determined the boundary of the deletion by fluorescence in situ hybridization (FISH) with bacterial artificial chromosome (BAC) clones. The results showed that the size of deletions is between 15.33 and 16.04 Mb in patient 1 and between 18.08 and 18.54 Mb in patient 2. Although the size and breakpoints were different from those of previously reported cases, the clinical features are common to patients with 9q22 deletion associated with BCNS. Delineation of the 9q22 deletions and further consideration of the genes responsible for the characteristic manifestations may provide insight into this newly recognized deletion syndrome.
  • 2009 年 49 巻 1 号 p. 15-19
    発行日: 2009年
    公開日: 2021/08/12
    ジャーナル オープンアクセス
    ABSTRACT The possible adverse effects of radiofrequency electromagnetic fields (EMF) emitted from mobile phones present a major public concern. Biological electrical activities of the human body are vulnerable to interference from oscillatory aspects of EMF, which affect fundamental cellular activities, in particular, the highly active development process of embryos. Some studies highlight the possible health hazards of EMF, while others contest the hypothesis of biological impact of EMF. The present study was designed to observe the histomorphological effects of EMF emitted by a mobile phone on the retinae of developing chicken embryos. Fertilized chicken eggs were exposed to a ringing mobile set on silent tone placed in the incubator at different ages of development. After exposure for the scheduled duration the retinae of the embryos were dissected out and processed for histological examination. The control and experimental embryos were statistically compared for retinal thickness and epithelial pigmentation grades. Contrasting effects of EMF on the retinal histomorphology were noticed, depending on the duration of exposure. The embryos exposed for 10 post-incubation days exhibited decreased retinal growth and mild pigmentation of the epithelium. Growth retardation reallocated to growth enhancement on increasing EMF exposure for 15 post-incubation days, with a shift of pigmentation grade from mild to intense. We conclude that EMF emitted by a mobile phone cause derangement of chicken embryo retinal differentiation.
  • 2009 年 49 巻 1 号 p. 20-26
    発行日: 2009年
    公開日: 2021/08/12
    ジャーナル オープンアクセス
    ABSTRACT Leflunomide has inhibitory effects on dihydroorotate-dehydrogenase activity and protein tyrosine kinase activity. In the present study, a single dose of 50 mg/kg Leflunomide was administered to pregnant mice on one of gestation days (GD)6–11. Characteristic external malformations were craniofacial defects following dosing on GD7, cleft palate on GD9, cleft palate and limb and tail deformities on GD10, and limb deformities on GD11. Skeletal examination revealed cervical to caudal vertebral malformations after treatment on GD7, GD8, GD9 or GD10. In the viscera, cardiovascular deformities were observed in the GD7 and GD9 Leflunomide-treated groups. These results demonstrate that multiple malformations were seen in various organs and most of the malformations observed appeared to be developmental stage-specific responses to Leflunomide treatment.
  • 2009 年 49 巻 1 号 p. 27-32
    発行日: 2009年
    公開日: 2021/08/12
    ジャーナル オープンアクセス
    ABSTRACT Discoid meniscus of the knee joint occurs at a higher incidence in the lateral than in the medial menisci. Although its developmental origin has been suggested, it remains unclear. To verify the developmental etiology, we examined the meniscus of the knee joint in 41 human fetuses (from 14 to 30 weeks of gestation) and 14 adults (from 56 to 91 years of age) comparatively. The articular surfaces of the tibia and meniscus of the left knees in 40 fetuses and 14 adults were photographed and each area was measured by Scion Image (Scion; http://www.scioncorp.com). Morphometric analyses revealed that the proportion of the area of meniscus to that of the plateau was continuously higher in the lateral side than in the medial side. The right knee joints of seven fetuses were histologically observed, and the layered structure of fibers developed earlier in the lateral meniscus than in the medial in fetuses. The observed differential development of lateral and medial sides of the meniscus may be involved in the etiology of discoid meniscus.
  • 2009 年 49 巻 1 号 p. 33-34
    発行日: 2009年
    公開日: 2021/08/12
    ジャーナル オープンアクセス
    ABSTRACT Gastroschisis is a malformation of the anterior abdominal wall that presents as herniation of abdominal contents through a paramedian abdominal defect, usually to the right side of the midline. The defect involves all the layers of the abdominal wall and there is no membranous covering. In newborns with isolated gastroschisis, the overall prognosis is very good. In rare cases, gastroschisis is associated with other congenital malformations, making the prognosis worse. We herein report a rare case of left-sided gastroschisis associated with meromelia of the limbs.
  • 2009 年 49 巻 1 号 p. 35-37
    発行日: 2009年
    公開日: 2021/08/12
    ジャーナル オープンアクセス
    ABSTRACT We present a case study of a newborn girl with a left-sided congenital diaphragmatic hernia and a myocardial infarction (MI). The occurrence of MI in newborns has been associated with cardiac malformations and abnormalities of the coronary arteries or thromboembolization. In our patient, echocardiography revealed left ventricular dysfunction, persistent pulmonary hypertension and an inferolateral MI. Within 24 hours cardiac function and oxygenation did not improve and the baby died. Autopsy showed massive MI, a small aortic valve and ascending aorta, and hypoplasia of the distal aortic arch and isthmus. An accessory spleen was also present. The present report underlines the importance of cardiac evaluation in patients with congenital diaphragmatic hernia.
  • 2009 年 49 巻 1 号 p. 38-41
    発行日: 2009年
    公開日: 2021/08/12
    ジャーナル オープンアクセス
    ABSTRACT Holt-Oram syndrome (HOS) is an autosomal dominant disorder consisting of a congenital heart defect in combination with upper limb abnormalities. This report presents the ultrasonographic follow-up of a fetus at risk for this syndrome. An abnormal four-chamber view of the heart and slight shortening of the forearm were found by prenatal ultrasound performed at 16 weeks of gestation. At 25 weeks of gestation, detailed sonographic examination clearly revealed abnormalities in the upper limbs and heart of the fetus. At 39 weeks of gestation, spontaneous labor and delivery produced a female infant weighting 2940 g. Postnatal examination of the infant confirmed the prenatal sonographic findings. 3-D ultrasound has an important role in prenatal diagnosis of HOS, which is essential for proper genetic counseling.
  • 2009 年 49 巻 1 号 p. 42-45
    発行日: 2009年
    公開日: 2021/08/12
    ジャーナル オープンアクセス
    ABSTRACT Endocrine disruptors are known to have the potential to interfere with reproductive systems. It has been reported that early embryogenesis was affected by estrone in chicks. In the present experiment, the effects of estrone on early embryos during pre-organogenesis were investigated to evaluate the effects and toxicities of endocrine disruptors. Mouse embryos at day 6.5 of gestation were recovered and cultured for 48 h in a medium at a concentration of 10 or 100 ng/mL estrone. After cultivation, the embryos were measured for the diameter of the total conceptus, including both embryo and yolk sac, and head–tail length. The diameters of conceptus in both treated and control groups were not significantly different, but the growth of the conceptus was slightly inhibited in the 10 ng estrone group. The lengths of embryos were significantly decreased in the 10 and 100 ng/mL estrone-treated groups. Thus, estrone affected embryo growth at pre-organogenesis, suggesting that the endocrine disruptor could also have some effects and toxicities on mouse embryogenesis.
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