Induction of a thoracolumbar supernumerary rib in rat developmental toxicity studies: A short discussion on the critical window.


:Thoracolumbar supernumerary ribs (TSRs) are classified as less severe skeletal anomalies in rat developmental toxicity studies, although their incidence is relatively high in rodent studies. To investigate the characteristics of the critical window for chemically-induced TSR, in this study, rats were administered 5-fluorocytocine (5-FC) or sodium salicylate (SAL) at one of three time periods on gestational day (GD) 9, early morning (7:00 am), midday (12:00 pm to 1:00 pm), or late afternoon (4:00 pm or 7:00 pm). The incidence of TSR and other anomalies were assessed in GD20 fetuses. A single treatment with both chemicals on GD9-induced TSR, with the incidence highest when administered at 7:00 Am, decreasing gradually when administered later. This trajectory was clearer in rats treated with 5-FC than with SAL. The critical period of TSR induction is shorter in rats administered 5-FC than SAL. The characteristics of the critical window may cause variability in the incidence of TSR observed in developmental toxicity studies.


Congenit Anom (Kyoto)


Congenital anomalies


Kuwagata M,Senuma M,Todoroki M,Kumagai F,Kumamoto T,Ogawa T




Has Abstract


2019-11-01 00:00:00












  • Extraction of DNA from human embryos after long-term preservation in formalin and Bouin's solutions.

    abstract::The "Kyoto Collection of Human Embryos" at Kyoto University was begun in 1961. Although morphological analyses of samples in the Kyoto Collection have been performed, these embryos have been considered difficult to genetically analyze because they have been preserved in formalin or Bouin's solution for 20-50 years. Ow...

    journal_title:Congenital anomalies

    pub_type: 杂志文章


    authors: Nagai M,Minegishi K,Komada M,Tsuchiya M,Kameda T,Yamada S

    更新日期:2016-05-01 00:00:00

  • Severe upper airway stenosis in a boy with partial monosomy 16p13.3pter and partial trisomy 16q22qter.

    abstract::We report the case of a boy with a de novo partial monosomy 16p13-pter and partial trisomy 16q22-qter detected by fluorescence in situ hybridization using subtelomeric probes for 16p and 16q. The boy had facial characteristics, skeletal features, congenital heart defects, an imperforate anus, urogenital malformations,...

    journal_title:Congenital anomalies

    pub_type: 杂志文章


    authors: Yamada K,Uchiyama A,Arai M,Kubodera K,Yamamoto Y,Orii KO,Nagasawa H,Masuno M,Kohno Y

    更新日期:2009-06-01 00:00:00

  • Prevalence of orofacial clefts and risks for nonsyndromic cleft lip with or without cleft palate in newborns at a university hospital from West Mexico.

    abstract::We determined the overall prevalence of typical orofacial clefts and the potential risks for nonsyndromic cleft lip with or without cleft palate in a university hospital from West México. For the prevalence, 227 liveborn infants with typical orofacial clefts were included from a total of 81,193 births occurred during ...

    journal_title:Congenital anomalies

    pub_type: 杂志文章


    authors: Corona-Rivera JR,Bobadilla-Morales L,Corona-Rivera A,Peña-Padilla C,Olvera-Molina S,Orozco-Martín MA,García-Cruz D,Ríos-Flores IM,Gómez-Rodríguez BG,Rivas-Soto G,Pérez-Molina JJ

    更新日期:2018-07-01 00:00:00

  • Possible association between different congenital abnormalities and use of different sulfonamides during pregnancy.

    abstract::The objective of the study presented here was to check the debated human teratogenic potential of sulfonamide drugs. Five different sulfonamides such as sulfamethazine, sulfathiourea, sulfamethoxypyridazine, sulfamethoxydiazine and the combination of sulfamethazine-sulfathiourea-sulfamethoxypyridazine were differentia...

    journal_title:Congenital anomalies

    pub_type: 杂志文章


    authors: Czeizel AE,Puhó E,Sørensen HT,Olsen J

    更新日期:2004-06-01 00:00:00

  • Understanding heart development and congenital heart defects through developmental biology: a segmental approach.

    abstract::ABSTRACT The heart is the first organ to form and function during development. In the pregastrula chick embryo, cells contributing to the heart are found in the postero-lateral epiblast. During the pregastrula stages, interaction between the posterior epiblast and hypoblast is required for the anterior lateral plate m...

    journal_title:Congenital anomalies

    pub_type: 杂志文章


    authors: Sakabe M,Matsui H,Sakata H,Ando K,Yamagishi T,Nakajima Y

    更新日期:2005-12-01 00:00:00

  • Neurological manifestations of 2q31 microdeletion syndrome.

    abstract::Microdeletion of 2q31 involving the HOXD gene cluster is a rare syndrome. The deletion of the HOXD gene cluster is thought to result in skeletal anomalies in these patients. HOX genes encode highly conserved transcription factors that control cell fate and the regional identities along the primary body and limb axes. ...

    journal_title:Congenital anomalies



    authors: Okamoto N,Kimura S,Shimojima K,Yamamoto T

    更新日期:2017-11-01 00:00:00

  • The dopaminergic system in attention deficit/hyperactivity disorder.

    abstract::Numerous studies have shown the importance of the mesocorticolimbic dopamine system in the pathophysiology of attention deficit/hyperactivity disorder. However, there has been inconsistency in the findings of those studies. Varied and sometimes contradictory interpretation has been made on the basis of similar results...

    journal_title:Congenital anomalies

    pub_type: 杂志文章,评审


    authors: Ohno M

    更新日期:2003-06-01 00:00:00

  • Precurrence risk of birth defects in Hawaii.

    abstract::The aim of the investigation was to describe the risk of selected types of birth defects among older siblings of infants and fetuses with specific birth defects. Using data from a population-based birth defects registry in Hawaii for deliveries during 1986-2000, the precurrence risk (risk among older siblings) for any...

    journal_title:Congenital anomalies

    pub_type: 杂志文章


    authors: Forrester MB,Merz RD

    更新日期:2008-03-01 00:00:00

  • Discrepancies in cytogenetic results between amniocytes and postnatally obtained blood: trisomy 9 mosaicism.

    abstract::When amniocentesis reveals a mosaic karyotype and the baby presents with multiple malformations, an analysis of the baby's peripheral blood typically reveals a mosaic karyotype. We present a boy who was prenatally diagnosed by amniocentesis as having trisomy 9 mosaicisim but who had normal G-banding results on postnat...

    journal_title:Congenital anomalies

    pub_type: 杂志文章


    authors: Kosaki R,Hanai S,Kakishima H,Okada MA,Hayashi S,Ito Y,Takahashi T,Kosaki K,Okuyama T

    更新日期:2006-06-01 00:00:00

  • Heart changes in 17-day-old fetuses of diabetic ICR (Institute of Cancer Research) mothers: improvement with maternal immune stimulation.

    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 (IFNgamma) has been associated with protection against birth malformations. Using a diabetic mouse model, lat...

    journal_title:Congenital anomalies

    pub_type: 杂志文章


    authors: Claudio Gutierrez J,Prater MR,Hrubec TC,Smith BJ,Freeman LE,Holladay SD

    更新日期:2009-03-01 00:00:00

  • Novel SYNGAP1 variant in a patient with intellectual disability and distinctive dysmorphisms.

    abstract::We describe a novel de novo heterozygous variant in SYNGAP1 (c.1741C>T, p.R581W), identified through targeted resequencing in an 8-year-old boy with intellectual disability, autism spectrum disorder, distinctive dysmorphic features, and no seizures. Our data strongly suggest that the SYNGAP1 variant is causative of in...

    journal_title:Congenital anomalies

    pub_type: 杂志文章,评审


    authors: Kimura Y,Akahira-Azuma M,Harada N,Enomoto Y,Tsurusaki Y,Kurosawa K

    更新日期:2018-11-01 00:00:00

  • Characteristics of 2p15-p16.1 microdeletion syndrome: Review and description of two additional patients.

    abstract::Many new microdeletion syndromes have been characterized in the past decade, including 2p15-p16.1 microdeletion syndrome. More than 10 patients with this syndrome have been described. Recently, we encountered two additional patients with 2p15-p16.1 microdeletion syndrome. All patients showed variable degrees of intell...

    journal_title:Congenital anomalies

    pub_type: 杂志文章,评审


    authors: Shimojima K,Okamoto N,Yamamoto T

    更新日期:2015-08-01 00:00:00

  • Population-based case-control teratogenic study of hydroxyprogesterone treatment during pregnancy.

    abstract::Hydroxyprogesterone, a synthetic progestin, was used for the treatment of pregnant women with threatened abortion and preterm delivery. Previous studies showed some association between hydroxyprogesterone use during early pregnancy and some specific congenital abnormalities. The population-based large Hungarian data s...

    journal_title:Congenital anomalies

    pub_type: 杂志文章


    authors: Dudás I,Gidai J,Czeizel AE

    更新日期:2006-12-01 00:00:00

  • Epigenetic alterations in sperm associated with male infertility.

    abstract::The most common form of male infertility is a low sperm count, known as oligozoospermia. Studies suggest that oligozoospermia is associated with epigenetic alterations. Epigenetic alterations in sperm, which may arise due to the exposure of gametes to environmental factors or those that pre-exist in the sperm of infer...

    journal_title:Congenital anomalies

    pub_type: 杂志文章,评审


    authors: Kitamura A,Miyauchi N,Hamada H,Hiura H,Chiba H,Okae H,Sato A,John RM,Arima T

    更新日期:2015-08-01 00:00:00

  • Using zebrafish in systems toxicology for developmental toxicity testing.

    abstract::With the high cost and the long-term assessment of developmental toxicity testing in mammals, the vertebrate zebrafish has become a useful alternative model organism for high-throughput developmental toxicity testing. Zebrafish is also very favorable for the 3R perspective in toxicology; however, the methodologies use...

    journal_title:Congenital anomalies

    pub_type: 杂志文章,评审


    authors: Nishimura Y,Inoue A,Sasagawa S,Koiwa J,Kawaguchi K,Kawase R,Maruyama T,Kim S,Tanaka T

    更新日期:2016-01-01 00:00:00

  • Alteration in anxiety-related behaviors and reduction of serotonergic neurons in raphe nuclei in adult rats prenatally exposed to ethanol.

    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...

    journal_title:Congenital anomalies

    pub_type: 杂志文章


    authors: Ohta K,Sakata-Haga H,Fukui Y

    更新日期:2010-06-01 00:00:00

  • In vitro models of pancreatic differentiation using embryonic stem or induced pluripotent stem cells.

    abstract::Embryonic stem (ES) cells or induced pluripotent stem (iPS) cells are expected as a surrogate cell source for regenerative medicine. Many researchers have reported the differentiation method of insulin-expressing pancreatic β cells from ES or iPS cells. However, the detailed molecular mechanisms underlying the differe...

    journal_title:Congenital anomalies

    pub_type: 杂志文章,评审


    authors: Higuchi Y,Shiraki N,Kume S

    更新日期:2011-03-01 00:00:00

  • Association between antidepressant use during pregnancy and congenital anomalies in children: A retrospective cohort study based on Japanese claims data.

    abstract::Certain studies previously pointed out that treating pregnant women with antidepressants may increase risks of congenital anomalies in their children. However, to date, the study results are not conclusive. Furthermore, most studies have been performed using data from Western countries; therefore, we examined this ass...

    journal_title:Congenital anomalies

    pub_type: 杂志文章


    authors: Yamamoto-Sasaki M,Yoshida S,Takeuchi M,Tanaka-Mizuno S,Kawakami K

    更新日期:2020-11-01 00:00:00

  • Towards the understanding of Down syndrome using mouse models.

    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 m...

    journal_title:Congenital anomalies

    pub_type: 杂志文章,评审


    authors: Yamakawa K

    更新日期:2012-06-01 00:00:00

  • Arthrogryposis multiplex congenita-like syndrome associated with median cleft lip and palates: first prenatally detected case.

    abstract::An early second-trimester prenatal ultrasound diagnosis of an arthrogryposis multiplex congenita-like syndrome associated with median clefts is reported. A molecular biological work-up was performed to search for a potentially overlapping syndrome and dysostosis. Autopsy and postmortem radiogram were performed to conf...

    journal_title:Congenital anomalies

    pub_type: 杂志文章


    authors: Tonni G,Lituania M

    更新日期:2013-09-01 00:00:00

  • Trend of congenital anomalies over 20 years ascertained by population-based monitoring in Ishikawa Prefecture, Japan.

    abstract::Monitoring in Ishikawa Prefecture (mean population; 1,150,000), during the 20-year period from 1981 to 2000, involved monitoring the prevalence of congenital anomalies starting at gestational week 22. The main objectives of the present study were (1) to investigate the trend over the past 20 years in the prevalence of...

    journal_title:Congenital anomalies

    pub_type: 杂志文章


    authors: Seto T,Nakagawa H,Morikawa Y,Nishijo M,Miura K,Kadoshima Y

    更新日期:2003-12-01 00:00:00

  • Prenatal molecular diagnosis of X-linked hydrocephalus via a silent C924T mutation in the L1CAM gene.

    abstract::We present a case of a patient whose L1CAM gene in X-chromosome has a C924T transition. Her first son's ventriculomegaly was prenatally detected. A mature infant was born, his head circumference was large, and thumbs were bilaterally adducted. X-linked hydrocephalus (XLH) was suspected. The DNA examination revealed th...

    journal_title:Congenital anomalies

    pub_type: 杂志文章


    authors: Serikawa T,Nishiyama K,Tohyama J,Tazawa R,Goto K,Kuriyama Y,Haino K,Kanemura Y,Yamasaki M,Nakata K,Takakuwa K,Enomoto T

    更新日期:2014-11-01 00:00:00

  • Miller-Dieker Syndrome with unbalanced translocation 45, X, psu dic(17;Y)(p13;p11.32) detected by fluorescence in situ hybridization and G-banding analysis using high resolution banding technique.

    abstract::Lissencephaly is one of the central nervous system anomalies of Miller-Dieker Syndrome (MDS). Fetuses with lissencephaly have an abnormal smooth brain with fewer folds and grooves that will be detected by ultrasounds or fetal magnetic resonance imaging (MRI) after 30 weeks of gestation. We report a fetus with lissence...

    journal_title:Congenital anomalies



    authors: Mishima T,Watari M,Iwaki Y,Nagai T,Kawamata-Nakamura M,Kobayashi Y,Fujieda S,Oikawa M,Takahashi N,Keira M,Yoshida H,Tonoki H

    更新日期:2017-03-01 00:00:00

  • Magnetic resonance imaging based correlation analysis between calcarine sulcus development and isolated fetal ventriculomegaly.

    abstract::Fetal ventriculomegaly development leads to neurological, motor, and/or cognitive impairment, and is presently diagnosed based on the width of the atrium in the lateral ventricle. But in this study, we have tried to assess the relationship between the development of calcarine sulcus and width of fetal lateral ventricl...

    journal_title:Congenital anomalies

    pub_type: 杂志文章


    authors: Li H,Liang H,Wu H

    更新日期:2017-03-01 00:00:00

  • Cerebro-costo-mandibular syndrome: prognosis and proposal for classification.

    abstract::Cerebro-costo-mandibular syndrome (CCMS) is a very rare syndrome characterized by micrognathia and posterior rib gap, with a poor prognosis. To date, only 75 cases have been reported worldwide. The overall survival rate for patients with this disorder has not been reported, and a classification of the patients on the ...

    journal_title:Congenital anomalies

    pub_type: 杂志文章


    authors: Nagasawa H,Yamamoto Y,Kohno Y

    更新日期:2010-09-01 00:00:00

  • Congenital diseases and semaphorin signaling: overview to date of the evidence linking them.

    abstract::Semaphorins and their receptors, neuropilins and plexins, were initially characterized as a modulator of axonal guidance during development, but are now recognized as a regulator of a wide range of developmental events including morphogenesis and angiogenesis, and activities of the immune system. Owing to the developm...

    journal_title:Congenital anomalies

    pub_type: 杂志文章,评审


    authors: Masuda T,Taniguchi M

    更新日期:2015-02-01 00:00:00

  • Genome-wide screening of dioxin-responsive genes in fetal brain: bioinformatic and experimental approaches.

    abstract::Many of the effects of dioxins, which are potent environmental pollutants and teratogens, are mediated through the aryl hydrocarbon receptor, also known as the dioxin receptor. The purpose of the present study was to characterize dioxin-responsive genes in a comprehensive manner using two complementary approaches: bio...

    journal_title:Congenital anomalies

    pub_type: 杂志文章


    authors: Fujita H,Samejima H,Kitagawa N,Mitsuhashi T,Washio T,Yonemoto J,Tomita M,Takahashi T,Kosaki K

    更新日期:2006-09-01 00:00:00

  • Neuroanatomic and magnetic resonance imaging references for normal development of cerebral sulci of laboratory primate, cynomolgus monkeys (Macaca fascicularis).

    abstract::Cynomolgus monkey (Macaca fascicularis) is a popular laboratory primate belonging to Old World monkeys, which are the group most closely related to humans except for the apes. This paper summarizes a series of our studies regarding the development of cerebral sulci and gyri in this primate, and the stated possibility ...

    journal_title:Congenital anomalies

    pub_type: 杂志文章,评审


    authors: Sawada K,Fukunishi K,Kashima M,Imai N,Saito S,Sakata-Haga H,Aoki I,Fukui Y

    更新日期:2012-03-01 00:00:00

  • Prenatal findings of omphalocele-exstrophy of the bladder-imperforate anus-spinal defects (OEIS) complex.

    abstract::Omphalocele-exstrophy of the bladder (cloaca)-imperforate anus-spinal defects (OEIS) complex describes a rare grouping of more commonly occurring component malformations. We report two cases of OEIS complex diagnosed prenatally by ultrasound and magnetic resonance imaging (MRI). In both cases, OEIS complex was suspect...

    journal_title:Congenital anomalies

    pub_type: 杂志文章


    authors: Goto S,Suzumori N,Obayashi S,Mizutani E,Hayashi Y,Sugiura-Ogasawara M

    更新日期:2012-09-01 00:00:00

  • Deletion involving the TWIST locus and the HOXA cluster: a contiguous gene syndrome on 7p?

    abstract::Deletion of TWIST on 7p21 leads to Saethre-Chotzen syndrome, whereas deletion of the HOXA cluster on 7p15.2 leads to hand-foot-genital syndrome. We report here a patient with 46,XY,del(7)(p15.2p21) who had craniosynostosis, maxillary hypoplasia, prominent ear crus, rectoperineal fistula, and hypoplastic fifth fingers....

    journal_title:Congenital anomalies

    pub_type: 杂志文章


    authors: Kosaki R,Higuchi M,Mitsui N,Matsushima K,Ohashi H,Kosaki K

    更新日期:2005-03-01 00:00:00