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 suspected by conventional sonography in the second trimester, and fetal MRI was performed at 27 and 32 weeks of gestation. Conventional sonography revealed low abdominal wall mass, spina bifida, absent bladder and ambiguous genitalia, but those findings were inconclusive. Using fetal MRI, we were able to detect omphalocele, imfraumbilical mass connected to gut tract, absent bladder, ambiguous external genitalia and spinal defect. Our findings suggest that fetal MRI is a useful tool for prenatal diagnosis of OEIS complex. MRI helps prenatal counseling and planning of postnatal early treatment strategy.
journal_name
Congenit Anom (Kyoto)journal_title
Congenital anomaliesauthors
Goto S,Suzumori N,Obayashi S,Mizutani E,Hayashi Y,Sugiura-Ogasawara Mdoi
10.1111/j.1741-4520.2011.00342.xsubject
Has Abstractpub_date
2012-09-01 00:00:00pages
179-81issue
3eissn
0914-3505issn
1741-4520journal_volume
52pub_type
杂志文章abstract::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-fl...
journal_title:Congenital anomalies
pub_type: 杂志文章
doi:10.1111/cga.12320
更新日期:2019-11-01 00:00:00
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
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journal_title:Congenital anomalies
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journal_title:Congenital anomalies
pub_type: 杂志文章,评审
doi:10.1111/cga.12273
更新日期:2018-11-01 00:00:00
abstract::Historical control data on rodent developmental toxicity studies, performed between 1994 and 2010, were obtained from 19 laboratories in Japan, including 10 pharmaceutical and chemical companies and nine contract research organizations. Rats, mice, and hamsters were used for developmental toxicity studies. Data includ...
journal_title:Congenital anomalies
pub_type: 历史文章,杂志文章
doi:10.1111/cga.12050
更新日期:2014-08-01 00:00:00
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
doi:10.1111/cga.12148
更新日期:2016-05-01 00:00:00
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journal_title:Congenital anomalies
pub_type: 杂志文章
doi:10.1111/j.1741-4520.2007.00173.x
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journal_title:Congenital anomalies
pub_type: 杂志文章,评审
doi:10.1111/j.1741-4520.2003.tb01035.x
更新日期:2003-06-01 00:00:00
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journal_title:Congenital anomalies
pub_type: 杂志文章
doi:10.1111/j.1741-4520.2002.tb00897.x
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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
pub_type:
doi:10.1111/cga.12212
更新日期:2017-11-01 00:00:00
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
doi:10.1111/j.1741-4520.2006.00116.x
更新日期:2006-09-01 00:00:00
abstract::The human genome harbors approximately 2000 genes that encode microRNAs (miRNAs), small non-coding RNAs of approximately 20-22 nt that mediate post-transcriptional gene silencing. MiRNAs are generated from long transcripts through stepwise processing by the Drosha/DGCR8, Exportin-5/RanGTP and Dicer/TRBP complexes. Giv...
journal_title:Congenital anomalies
pub_type: 杂志文章,评审
doi:10.1111/cga.12043
更新日期:2014-02-01 00:00:00
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
doi:10.1111/cga.12113
更新日期:2015-08-01 00:00:00
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
doi:10.1111/j.1741-4520.2003.tb01015.x
更新日期:2003-12-01 00:00:00
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
doi:10.1111/j.1741-4520.2006.00111.x
更新日期:2006-06-01 00:00:00
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
doi:10.1111/j.1741-4520.2012.00367.x
更新日期:2012-06-01 00:00:00
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
doi:10.1111/cga.12069
更新日期:2014-11-01 00:00:00
abstract::There is limited information on the specific structural birth defects associated with the abdominal wall defects (AWD) omphalocele and gastroschisis, particularly which defects occur with the AWD at greater than expected rates (rates among all infants and fetuses with birth defects other than the AWD). Using data from...
journal_title:Congenital anomalies
pub_type: 杂志文章
doi:10.1111/j.1741-4520.2008.00184.x
更新日期:2008-06-01 00:00:00
abstract::Indium, a precious metal classified in group 13 (IIIB) in the periodic table, has been used increasingly in the semiconductor industry. Because indium is a rare metal, technology for indium recycling from transparent conducting films for liquid crystal displays is desired, and its safety evaluation is becoming increas...
journal_title:Congenital anomalies
pub_type: 杂志文章,评审
doi:10.1111/j.1741-4520.2008.00197.x
更新日期:2008-12-01 00:00:00
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
doi:10.1111/j.1741-4520.2006.00128.x
更新日期:2006-12-01 00:00:00
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journal_title:Congenital anomalies
pub_type: 杂志文章
doi:10.1111/cga.12386
更新日期:2020-11-01 00:00:00
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journal_title:Congenital anomalies
pub_type: 杂志文章
doi:10.1111/j.1741-4520.2010.00269.x
更新日期:2010-06-01 00:00:00
abstract::Non-invasive prenatal diagnostic methods posing no danger to the embryo have been desired for many years in the field of prenatal medicine. We are in the process of improving the lectin method that we developed for recovering fetus-derived nucleated red blood cells (NRBC) in the maternal peripheral blood. We previousl...
journal_title:Congenital anomalies
pub_type: 杂志文章
doi:10.1111/j.1741-4520.2004.00040.x
更新日期:2004-12-01 00:00:00
abstract::Six pediatric cases including four infants with congenital polymicrogyria including the perisylvian region are presented herein. Their clinical features were analyzed and compared with patients suffering from congenital bilateral perisylvian syndrome (CBPS). Two specific abnormalities were diagnosed as accompanying di...
journal_title:Congenital anomalies
pub_type: 杂志文章
doi:10.1111/j.1741-4520.2009.00253.x
更新日期:2010-03-01 00:00:00
abstract::A 32-year-old gravida 2, para 1 woman, with a previous uneventful pregnancy, underwent first trimester ultrasound screening for Down syndrome at 13 weeks according to the Fetal Medicine Foundation guidelines (http://www.fetalmedicine.com/pdf/11-14/english/FMF-English.pdf). The ultrasound showed increased nuchal transl...
journal_title:Congenital anomalies
pub_type: 杂志文章
doi:10.1111/j.1741-4520.2007.00146.x
更新日期:2007-06-01 00:00:00
abstract::Choroid plexus, a fetal organ developing approximately from the sixth week of gestation, plays a fundamental role in developing fetal brain organization. As relatively little is known about the relationship between anomalies of choroid plexuses structure and their role in brain function, we examined cases of bifid cho...
journal_title:Congenital anomalies
pub_type: 杂志文章
doi:10.1111/cga.12006
更新日期:2013-06-01 00:00:00
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journal_title:Congenital anomalies
pub_type: 杂志文章
doi:10.1111/j.1741-4520.2007.00155.x
更新日期:2007-09-01 00:00:00
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
doi:10.1111/j.1741-4520.2004.00012.x
更新日期:2004-06-01 00:00:00
abstract::Familial cases of isolated abdominal wall defects with variable expressivity in more than one generation have rarely been observed. We report four affected individuals within a small three-generation family with either variable non-syndromic abdominal wall defects or external genital anomalies. We discuss the possible...
journal_title:Congenital anomalies
pub_type: 杂志文章
doi:10.1111/j.1741-4520.2010.00291.x
更新日期:2011-06-01 00:00:00
abstract::This study examined immunohistochemically the expression of an enzymatically active form of tyrosine hydroxylase (TH), phosphorylated TH at Ser40 (phospho-TH), in the cerebellum of ataxic mutant mice, rolling mouse Nagoya (RMN) and dilute-lethal (DL). TH immunostaining appeared in some Purkinje cells in RMN and DL, bu...
journal_title:Congenital anomalies
pub_type: 杂志文章
doi:10.1111/j.1741-4520.2003.00008.x
更新日期:2004-03-01 00:00:00