official journal of Congeital Anomalies Research Association of Japan
Online ISSN : 2433-1503
Print ISSN : 0037-2285
Volume 50 , Issue 2
Congenital Anomalies
Showing 1-10 articles out of 10 articles from the selected issue
  • 2010 Volume 50 Issue 2 Pages J3
    Published: 2010
    Released: August 18, 2021
    JOURNAL OPEN ACCESS
    Download PDF (1597K)
  • 2010 Volume 50 Issue 2 Pages 77-84
    Published: 2010
    Released: August 18, 2021
    JOURNAL OPEN ACCESS
    ABSTRACT  Mouse embryos exposed to 2,3,7,8-tetrachloridedibenzo-p-dioxin (TCDD) develop cleft palates and hydronephrosis. Cleft palates occur after TCDD exposure due to contact and/or fusion failure. We investigated whether cleft palate can be induced by dissociation of the palatine process after fusion. Pregnant mice on gestational day (GD) 12 were randomly divided into two groups: one group was administered through gastric tubes one dose of olive oil (control group) and the other group was administered one dose of TCDD diluted with olive oil, both at a dose of 40 µg/kg body weight. Embryos were removed by cesarean section from pregnant mice during the palatal formation stage (GD 13–18) and the palatal form was observed using a stereoscopic microscope. In TCDD-exposed embryos, palatal fusion was observed on GD 14, 15 and 16 and the incidence of cleft palate was 100% on GD 18. Fusion rates were 17.5 ± 15.2% and 12.4 ± 11.8% on GD 15 and 16, respectively. Some palates from the TCDD-exposed mouse embryos showed clearly developed cleft palate after fusion of the lateral palatine processes during palatal formation. A mass of cells, which were chiefly epithelial in the fused palates was observed in the TCDD-exposed mouse embryos. A decrease in E-cadherin expression was observed in this mass of cells, indicating its involvement in the development of cleft palate.
    Download PDF (1370K)
  • 2010 Volume 50 Issue 2 Pages 85-94
    Published: 2010
    Released: August 18, 2021
    JOURNAL OPEN ACCESS
    ABSTRACT  In normal ontogenetic development, the expression of the sex-determining region of the Y chromosome (SRY) gene, involved in the first step of male sex differentiation, is spatiotemporally regulated in an elaborate fashion. SRY is expressed in germ cells and Sertoli cells in adult testes. However, only few reports have focused on the expressions of SRY and the other sex-determining genes in both the classical organ developing through these genes (gonad) and the peripheral tissue (skin) of adult XY females. In this study, we examined the gonadal tissue and fibroblasts of a 17-year-old woman suspected of having disorders of sexual differentiation by cytogenetic, histological, and molecular analyses. The patient was found to have the 46,X,inv(Y)(p11.2q11.2) karyotype and streak gonads with abnormally prolonged SRY expression. The sex-determining gene expressions in the patient-derived fibroblasts were significantly changed relative to those from a normal male. Further, the acetylated histone H3 levels in the SRY region were significantly high relative to those of the normal male. As SRY is epistatic in the sex-determination pathway, the prolonged SRY expression possibly induced a destabilizing effect on the expressions of the downstream sex-determining genes. Collectively, alterations in the sex-determining gene expressions persisted in association with disorders of sexual differentiation not only in the streak gonads but also in the skin of the patient. The findings suggest that correct regulation of SRY expression is crucial for normal male sex differentiation, even if SRY is translated normally.
    Download PDF (1152K)
  • 2010 Volume 50 Issue 2 Pages 95-104
    Published: 2010
    Released: August 18, 2021
    JOURNAL OPEN ACCESS
    ABSTRACT  This study was designed to evaluate the effect of recombinant human fibroblast growth factor-2 (rhFGF-2) on the amount and period of new bone formation in rabbit mandibular distraction models using β-tricalcium phosphate (β-TCP) as a bone graft substitute. Sixteen male Japanese White rabbits were divided into the following four experimental groups: 1, distraction alone; 2, distraction with β-TCP granules; 3, distraction with rhFGF-2 (25 µg/50 µL) injected into β-TCP granules; and 4, distraction with rhFGF-2 (100 µg/50 µL) injected into β-TCP granules. The bones were harvested at 4 weeks after the operation and examined using soft radiography, micro-computed tomography (micro-CT), and peripheral quantitative computed tomography (pQCT). The dissected mandibles were stained using the Villanueva bone staining method, and the amount of new bone formed, bioresorption of β-TCP, and new blood vessel formation were morphometrically calculated using bone histomorphometry. Radiopaque areas were observed more frequently in the distracted area of groups 3 and 4. Micro-CT analysis revealed partial new bone formation in the central region of the distracted area in groups 3 and 4. pQCT analysis revealed increased bone mineral density in groups 3 and 4. Histomorphometric analysis revealed increased newly formed bone and blood vessel areas in groups 3 and 4. In group 4, the number of osteoclasts around the β-TCP granules had significantly increased. The present findings suggested that the combined use of rhFGF-2 and β-TCP reduced the treatment period for distraction osteogenesis and accelerated the formation of a new high-quality bone.
    Download PDF (1087K)
  • 2010 Volume 50 Issue 2 Pages 105-114
    Published: 2010
    Released: August 18, 2021
    JOURNAL OPEN ACCESS
    ABSTRACT  It is known that the developing serotonergic system is one of the targets of ethanol teratogenicity. Because serotonin has multiple functions in both mature and immature brains, disturbance of the serotonergic system by ethanol exposure in utero can be cause of a wide range of psychiatric problems in adulthood. In the present study, we observed serotonergic neurons in the midbrain raphe nuclei and anxiety-like behaviors which would be affected by an altered serotonergic system in adult rats prenatally exposed to ethanol. Pregnant rats were fed a liquid diet containing 2.5–5.0% (w/v) ethanol on gestational days 10–21. Their offspring were examined at 60–70 days of age. A significant decrease in the number of serotonergic cells in the midbrain raphe nuclei was shown in prenatally ethanol-exposed offspring. In an open field test, they spent more time in a central area compared to controls. Also in an elevated plus maze test, prenatally ethanol-exposed offspring spent more time on the open arms than controls. These behavioral results suggested that prenatally ethanol-exposed rats were less sensitive to anxiety. However, 44% of prenatally ethanol-exposed offspring exhibited freezing behavior on the open arms of the elevated plus maze, causing strong anxiety, compared with 0% in intact control and 12.5% in isocaloric sucrose-fed control groups. These findings suggest that prenatal ethanol exposure decreases both susceptibility and resistance of anxiety. Insufficient serotonergic actions caused by reduced serotonergic neurons in the raphe nuclei might contribute to the alterations in anxiety-related behaviors observed in our prenatally ethanol-exposed rats.
    Download PDF (795K)
  • 2010 Volume 50 Issue 2 Pages 115-121
    Published: 2010
    Released: August 18, 2021
    JOURNAL OPEN ACCESS
    ABSTRACT  To estimate the risk of structural birth defects (i.e. congenital abnormalities [CA]) in the offspring of pregnant women with type 1 (DM-1), type 2 (DM-2) and gestational diabetes mellitus (GDM) and to check the efficacy of recent specific care of diabetic pregnant women in the reduction of DM-related CA. Comparison was made of the occurrence of medically recorded types of diabetes mellitus in pregnant women who had malformed fetuses/newborns (cases) and who delivered healthy babies (controls) in the population-based Hungarian Case-Control Surveillance System of Congenital Abnormalities, 1980–1996. In the case group, which included 22 843 offspring, there were 79 (0.35%) pregnant women with DM-1, 77 (0.34%) pregnant women with DM-2 and 120 (0.53%) pregnant women with GDM. The control group comprised 38 151 newborns, and 88 (0.23%), 141 (0.37%) and 229 (0.60%) pregnant women with DM-1, DM-2 and GDM, respectively. The total rate of cases with CA was higher only in the DM-1 group (adjusted OR with 95% CI: 1.5, 1.1–2.0) and within four specific types/groups: isolated renal a/dysgenesis, obstructive CA of the urinary tract, cardiovascular CA and multiple CA; namely, caudal dysplasia sequence. The risk of total CA was lower in the present study compared to the risk in previous studies and the DM-1-related spectrum of CA was also different. There was no higher risk of total CA in the offspring of pregnant women with DM-2 and GDM. The certain part of maternal teratogenic effect of DM-1 is preventable with appropriate periconceptional and prenatal care of diabetic women.
    Download PDF (128K)
  • 2010 Volume 50 Issue 2 Pages 122-128
    Published: 2010
    Released: August 18, 2021
    JOURNAL OPEN ACCESS
    ABSTRACT  Pholedrine was a frequently used drug for the treatment of severe hypotension in some countries, including Hungary. The possible teratogenic effect of pholedrine was not checked; therefore; the birth outcomes, particularly congenital abnormalities (CAs), of infants born to women treated with pholedrine during pregnancy, and pregnancy complications were evaluated in the population-based large dataset of the Hungarian Case-Control Surveillance System of Congenital Abnormalities. Cases with CA and their matched controls without CA born to mothers with pholedrine use during pregnancy were compared. Of 22  843 cases and 38 151 controls, 768 (3.4%) and 1509 (4.0%) were born to mothers with pholedrine treatment, respectively (adjusted odds ratios [OR] with 95% CI: 0.9, 0.8–1.0). There was no higher risk for any CA group in the offspring of mothers who used pholedrine during the second and/or third month of pregnancy (i.e. the critical period of most major CA). The mean gestational week at delivery and birthweight was similar in newborns of women with or without pholedrine treatment during pregnancy. The pattern of pregnancy complications was characteristic (lower incidence of preeclampsia/eclampsia, while higher incidence of severe nausea/vomiting and anemia), explained mainly by the underlying maternal hypotension. In conclusion, pholedrine treatment in pregnant women was not associated with a higher risk for CA or other adverse birth outcomes, such as preterm birth or low birthweight. The knowledge of the teratogenic potential of pholedrine may contribute to the evaluation of other sympathomimetic drugs.
    Download PDF (125K)
  • 2010 Volume 50 Issue 2 Pages 129-132
    Published: 2010
    Released: August 18, 2021
    JOURNAL OPEN ACCESS
    ABSTRACT  We report herein a case of Brachmann-de Lange syndrome complicated with congenital diaphragmatic hernia in which a NIPBL gene mutation was identified. A female infant born at 37 weeks of gestation died 134 min after delivery, even though endotracheal intubation and resuscitation were performed immediately after the scheduled caesarean operation. We diagnosed the infant with Brachmann-de Lange syndrome from her physical characteristics. An abnormal peak at the 29th exon in the translation area of the NIPBL gene was detected using denaturing high-performance liquid chromatography. In addition, a mutation of cytosine to thymine (nonsense mutation) at the 5524th base was identified using the direct sequence method. This variation was likely the cause of the syndrome.
    Download PDF (333K)
  • 2010 Volume 50 Issue 2 Pages 133-138
    Published: 2010
    Released: August 18, 2021
    JOURNAL OPEN ACCESS
    ABSTRACT  Five patients were reported in our congenital anomaly registry who had six hands in total with muscular hyperplasia, aberrant muscles, ulnar drift of the fingers in the metacarpophalangeal (MP) joints, flexion contractures of the MP joints, and enlargement of the metacarpal spaces. Thirty patients with unilateral involvement of this condition have been reported previously. We reviewed these cases and found that the condition varied in severity and that it was reported using different names. However, this condition seems different from true macrodactyly and multiple camptodactyly, including windblown hand, and seems to be an isolated entity of congenital upper limb anomaly. The authors recommend ‘aberrant muscle syndrome’ or ‘accessory muscle syndrome’ as a diagnostic name, because this seems to be the most common pathological finding in this condition.
    Download PDF (671K)
  • 2010 Volume 50 Issue 2 Pages 139-140
    Published: 2010
    Released: August 18, 2021
    JOURNAL OPEN ACCESS
    Download PDF (87K)
feedback
Top