日本先天異常学会会報
Online ISSN : 2433-1503
Print ISSN : 0037-2285
52 巻 , 2 号
Congenital Anomalies
選択された号の論文の11件中1~11を表示しています
  • 2012 年 52 巻 2 号 p. J3
    発行日: 2012年
    公開日: 2021/08/19
    ジャーナル オープンアクセス
  • 2012 年 52 巻 2 号 p. 67-71
    発行日: 2012年
    公開日: 2021/08/19
    ジャーナル オープンアクセス
    ABSTRACT Down syndrome (DS) is the most common cause of mental retardation. Several DS mouse models with partial trisomy 16 homologous to human chromosome 21 have been developed, and our research group has been studying those mouse models. We have shown a dosage-dependent overexpression of genes in the trisomic region of the mouse. We have also described abnormalities including increased oxidative stress, increased lipid peroxidation, mitochondrial dysfunction, tau-hyperphosphorylation and overactivation of its phosphatases, impaired developmental and adult neurogenesis, histological abnormalities in brains including ventricle enlargements and minor neurodegenerations in those mice. These observations may contribute to the identification of responsible genes and understanding of molecular pathology of Down syndrome.
  • 2012 年 52 巻 2 号 p. 72-77
    発行日: 2012年
    公開日: 2021/08/19
    ジャーナル オープンアクセス
    Abstract Sonic hedgehog (Shh) acts as a morphogen in normal development of various vertebrate tissues and organs. Shh signaling is essential for patterning and cell-fate specification, particularly in the central nervous system. Shh signaling plays different roles depending on its concentration, area, and timing of exposure. During the development of the neocortex, a low level of Shh is expressed in the neural stem/progenitor cells as well as in mature neurons in the dorsal telencephalon. Shh signaling in neocortex development has been shown to regulate cell cycle kinetics of radial glial cells and intermediate progenitor cells, thereby maintaining the proliferation, survival and differentiation of neurons in the neocortex. During the development of the telencephalon, endogenous Shh signaling is involved in the transition of slow-cycling neural stem cells to fast-cycling neural progenitor cells. It seems that high-level Shh signaling in the ventral telencephalon is essential for ventral specification, while low-level Shh signaling in the dorsal telencephalon plays important roles in the fine-tuning of cell cycle kinetics. The Shh levels and multiple functions of Shh signaling are important for proper corticogenesis in the developing brain. The present paper discusses the roles of Shh signaling in the proliferation and differentiation of neural stem/progenitor cells.
  • 2012 年 52 巻 2 号 p. 78-81
    発行日: 2012年
    公開日: 2021/08/19
    ジャーナル オープンアクセス
    Abstract Down syndrome is an autosomal chromosome disorder, characterized by intellectual disability and muscle hypotonia. Muscle hypotonia is observed from neonates to adulthood in Down syndrome patients, but muscle hypertonicity is extremely unusual in this syndrome. During a study period of nine years, we found three patients with severe spastic quadriplegia among 20 cases with Down syndrome and congenital duodenal stenosis/atresia (3/20). However, we could find no patient with spastic quadriplegia among 644 cases with Down syndrome without congenital duodenal stenosis/atresia during the same period (0/644, P < 0.05). Further, we did not find any cases with spastic quadriplegia among 17 patients with congenital duodenal stenosis/atresia without Down syndrome admitted during the same period to use as a control group (0/17, P < 0.05). Our results suggest that congenital duodenal stenosis/atresia is a potential risk factor for spastic quadriplegia in patients with Down syndrome. Long-term survival is improving, and the large majority of people with Down syndrome are expected to live well into adult life. Management and further study for the various problems, representing a low prevalence but serious and specific to patients with Down syndrome, are required to improve their quality of life.
  • 2012 年 52 巻 2 号 p. 82-86
    発行日: 2012年
    公開日: 2021/08/19
    ジャーナル オープンアクセス
    ABSTRACT Rubinstein-Taybi syndrome (RTS) is characterized by developmental delay, postnatal growth retardation, typical facial appearance, and broad thumbs and big toes. The behavioral phenotype of children with RTS has been described as friendly and having good social contacts; however, a short attention span and hyperactivity are sometimes present. Little attention has been paid to the behavioral aspects of adults with RTS. We conducted an observational study focusing on behavioral problems in adolescents and adults with RTS compared with children with RTS. A total of 63 patients with RTS and their caretakers answered self-administered questionnaires regarding behavioral features including the Child Behavior Checklist (CBCL). High total CBCL scores were observed, and the mean score was beyond the clinical cut-off point. After stratification into two groups according to age, the older group (≥14 years) displayed statistically significant higher scores for Anxious/Depression (P = 0.002) and Aggressive Behavior (P = 0.036) than the younger group (≤13 years). In analyses of single items, statistically significant differences between the younger group and the older group were found for ‘Nervous, high-strung, or tense’ (31.3% vs 67.7%, P = 0.004) and ‘Too fearful or anxious’ (37.5% vs 64.5%, P = 0.032). Here, we showed that the specific behavioral phenotypes of RTS change during adolescence, with anxiety, mood instability, and aggressive behavior emerging as patients age. A clear need exists to follow-up patients with RTS to catch the eventual emergence of psychiatric problems with age. If necessary, pharmacological treatment should be considered.
  • 2012 年 52 巻 2 号 p. 87-96
    発行日: 2012年
    公開日: 2021/08/19
    ジャーナル オープンアクセス
    Abstract Prenatal exposure of methylazoxymethanol acetate, a DNA methylating agent, to pregnant rats on embryonic day 15 is known to produce hippocampal malformation and laminar disorganization of the cerebral cortex. However, there are few studies to demonstrate developmental processes of abnormal structures in the hippocampus. In the present study, we examined complete serial sections of rat brains on postnatal day 0 to 2, which pretreated with methylazoxymethanol acetate on embryonic day 15. At birth, massive cellular clusters were found under the white matter of the cerebral cortex and then, a part of these clusters entered into the hippocampal CA1 sector on postnatal day 2. These ectopic cellular clusters in the CA1 were immunoreactive to anti-calbindin antibody, suggesting that the origin of these cellular clusters is equivalent to that of the cortical layer II/III neurons. Next, we injected FluoroGold into the lateral septal nucleus to examine hippocampo-septal projection. FluoroGold-labeled neurons were scattered in the ectopic cellular cluster, implying that CA1 pyramidal neurons project normally to the lateral septal nucleus. In conclusion, a majority of neurons found in the ectopic cellular cluster caused by prenatal methylazoxymethanol treatment is derived from cortical neurons, and some intrinsic pyramidal neurons in the CA1 of hippocampus are scattered throughout the ectopic cellular cluster.
  • 2012 年 52 巻 2 号 p. 97-103
    発行日: 2012年
    公開日: 2021/08/19
    ジャーナル オープンアクセス
    ABSTRACT We hypothesized that gene expression in placenta and umbilical vessels are affected by intrauterine environment and some of the expression in umbilical vessels originating from the fetus could reflect fetal condition of these complicated pregnancies. Expression of angiogenesis-related factors and inflammatory cytokines were examined in placenta and umbilical vessels to clarify the effects of intrauterine environment of pregnancies complicated by preeclampsia and chorioamnionitis/funisitis. Forty-six preterm cesarean section deliveries were classified into three groups based on maternal condition during prenatal monitoring: preeclampsia (PE) (n = 11), chorioamnionitis/funisitis (CAM) (n = 8), and preterm control (PC) (n = 27). Angiogenesis-related factors and inflammatory cytokines in placentas, umbilical arteries and umbilical veins were analyzed by RT-PCR and immunohistochemistry. We demonstrated that Ang-2, Tie-2, and Dll4 increase in the placentas of PE compared to PC for the first time, and we confirmed the findings of previous reports showing the high expression of HIF-1α, sFlt-1, endoglin, leptin, and AT1R. Expression of angiogenesis-related factors, including HIF-1α, VEGF, angiopoietin, and TGF-β systems, and inflammatory cytokines, such as TNF-α and IL-6, increased in umbilical vessels of PE. Umbilical veins of CAM showed a higher Dll4 level than did PC. In preeclampsia, abnormal expressions of angiogenesis-related factors related to lifestyle diseases in adulthood were seen in the placenta and umbilical vessels as compared to PC. Chorioamnionitis/funisitis showed only upregulation of DII4 in umbilical veins.
  • 2012 年 52 巻 2 号 p. 104-105
    発行日: 2012年
    公開日: 2021/08/19
    ジャーナル オープンアクセス
    ABSTRACT We surveyed 1053 pregnant rabbits of the Kbl:NZW strain collected from 27 developmental toxicity studies to reveal the prevalence and significance of gastric hairballs. The incidence of hairballs was 2/525 (0.4%) in the control group and 17/528 (3.2%) in the high dose group. In the high dose group, 16 dams resulted in abortion or death. In addition, decreases in body weight and food consumption were more severe in dams with hairballs than in their group-mates without hairballs.
  • 2012 年 52 巻 2 号 p. 106-110
    発行日: 2012年
    公開日: 2021/08/19
    ジャーナル オープンアクセス
    ABSTRACT We report a female fetus with sirenomelia with 46,X,t(X;16)(p11.23;p12.3) de novo. Fluorescence in situ hybridization (FISH) with bacterial artificial chromosomes were employed for narrowing down the breakpoint regions. On chromosome 16, the breakpoint was mapped in the region of RP11-453F10 (19 920 640–20 118 153 bp from 16pter). On chromosome X, the breakpoint was mapped in the region of RP11-794A15 (47 333 744–47 524 066 bp from Xpter). This is the first case report of sirenomelia associated with translocations. The abnormal phenotype, associated with a balanced translocation, was caused by deletion or breakage of dosage-sensitive genes of the breakpoint, disruption of an imprinted gene, or uniparental disomy. Although the parental origin of normal 16 and der(16) remained undetermined, this case will provide insight into the pathogenetic mechanism of sirenomelia.
  • 2012 年 52 巻 2 号 p. 111-114
    発行日: 2012年
    公開日: 2021/08/19
    ジャーナル オープンアクセス
    ABSTRACT Neonatal tumors are reported to occur in approximately 17–121 per million live births worldwide. They are often diagnosed by ultrasonography after mid-pregnancy. Teratomas are the most frequent solid neoplasms, accounting for between one-quarter and one-third of cases. Here, we describe the prenatal diagnosis of a fetal face teratoma located on the right temporal side at 26 weeks of gestation. Besides 2D and 4D ultrasound imaging, fetal magnetic resonance imaging provides substantial support in perinatal management and promotes the perception of fetal malformations by the family. Extreme intrauterine growth of the tumor with remarkable pressure to the surrounding facial structures and good perinatal prognosis following complete tumoral resection are reviewed.
  • 2012 年 52 巻 2 号 p. 115-118
    発行日: 2012年
    公開日: 2021/08/19
    ジャーナル オープンアクセス
    ABSTRACT The present paper reports and discusses a case of sacral lipomyelomeningocele with an anomalous long bone articulating with the left iliac bone in a 40-year-old female. That patient had a monozygotic twin sister who had normal spine. The findings were incidental during an evaluation for a urinary tract infection. The computed tomography (CT) and magnetic resonance (MR) images revealed sacral dysraphism, lipomyelomeningocele, tethered spinal cord, and profound subcutaneous fat in the sacrococcygeal region. In addition, an anomalous bony strut was demonstrated on the posterior aspect of the sacrum, covering the sacral defect and the associated lipomyelomeningocele. The 3-D CT images of the anomalous bone associated with the sacral lipomyelomeningocele and the putative embryologic process are presented with a review of the literature.
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