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

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

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

更新日期：2012-09-01 00:00:00

abstract：:The WDR62 gene encodes a scaffold protein of the c-Jun N-terminal kinase (JNK) pathway. It plays a critical role in laying out various cellular layers in the cerebral cortex during embryogenesis, and hence the dramatic clinical features resulting from WDR62 mutations. These mutations are associated with autosomal rece...

journal_title：Congenital anomalies

authors： Bastaki F,Mohamed M,Nair P,Saif F,Tawfiq N,Aithala G,El-Halik M,Al-Ali M,Hamzeh AR

更新日期：2016-05-01 00:00:00

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

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

更新日期：2018-11-01 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

authors： Centini G,Imperatore A,Morelli M,Rosignoli L,Passamonti U,Caprioli F,Lituania M

更新日期：2013-06-01 00:00:00

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

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

更新日期：2009-03-01 00:00:00

abstract：:The time of origin of motor neurons and their distribution in the spinal cord was studied in rat embryos by combining whole-embryo culture and the Islet-1 immunostaining technique. Cells immunostained for Islet-1 appeared in the trunk neural tube by 27 hours (corresponding to E10.625) in culture of E9.5 embryos, at wh...

journal_title：Congenital anomalies

authors： Matsuda M

更新日期：2002-06-01 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

authors： Dudás I,Gidai J,Czeizel AE

更新日期：2006-12-01 00:00:00

abstract：:Report of a female fetus aborted at the 25th week of gestation, with severe microcephalus, trigonocephaly, median cleft lip and palate, arhinia, and anophthalmia. On opening of the skull the cranial cavity seemed to be occupied only by hindbrain structures. The forebrain, including the tentorium cerebelli and the falx...

journal_title：Congenital anomalies

authors： Schmitt HP,Born IA

更新日期：1988-09-01 00:00:00

abstract：:To investigate the abnormalities that are specific to administration of flucytosine at one time point during embryonic organogenesis, flucytosine was administered orally to pregnant Sprague Dawley (SD) rats in a single dose on day 11 of pregnancy at 25 or 35 mg/kg. Fetuses on day 20 of pregnancy were externally, visce...

journal_title：Congenital anomalies

authors： Fujii S,Yabe K,Kariwano-Kimura Y,Furukawa M,Itoh K,Matsuura M,Horimoto M

更新日期：2019-03-01 00:00:00

abstract：:Wolf-Hirschhorn syndrome (WHS) is a subtelomeric deletion syndrome affecting the short arm of chromosome 4. The main clinical features are a typical craniofacial appearance, growth deficiency, developmental delays, and seizures. Previous genotype-phenotype correlation analyses showed some candidate regions for each cl...

journal_title：Congenital anomalies

authors： Yamamoto-Shimojima K,Kouwaki M,Kawashima Y,Itomi K,Momosaki K,Ozasa S,Okamoto N,Yokochi K,Yamamoto T

更新日期：2019-09-01 00:00:00

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

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

authors： Tonni G,Lituania M

更新日期：2013-09-01 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

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

abstract：:The rapid rise in the prevalence of autism spectrum disorders (ASD) and other psychiatric disorders displaying similar traits has increased the need to elucidate their molecular mechanisms. Epidemiological studies have shown that maternal infection during mid-pregnancy is associated with increased risk of neurodevelop...

journal_title：Congenital anomalies

authors： Tsukada T,Shimada H,Sakata-Haga H,Iizuka H,Hatta T

更新日期：2019-05-01 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

authors： Yamakawa K

更新日期：2012-06-01 00:00:00

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

authors： Shimojima K,Okamoto N,Yamamoto T

更新日期：2015-08-01 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

authors： Sawada K,Ando M,Sakata-Haga H,Sun XZ,Jeong YG,Hisano S,Takeda N,Fukui Y

更新日期：2004-03-01 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

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

abstract：:The eye is a sensory organ that primarily captures light and provides the sense of sight, as well as delivering non-visual light information involving biological rhythms and neurophysiological activities to the brain. Since the early 1990s, rapid advances in molecular biology have enabled the identification of develop...

journal_title：Congenital anomalies

authors： Ohuchi H,Sato K,Habuta M,Fujita H,Bando T

更新日期：2019-05-01 00:00:00

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

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

更新日期：2020-11-01 00:00:00

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

authors： Higuchi Y,Shiraki N,Kume S

更新日期：2011-03-01 00:00:00

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

authors： Masuda T,Taniguchi M

更新日期：2015-02-01 00:00:00

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

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

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

authors： Nagasawa H,Yamamoto Y,Kohno Y

更新日期：2010-09-01 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

authors： Li H,Liang H,Wu H

更新日期：2017-03-01 00:00:00

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

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

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

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

更新日期：2005-03-01 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

authors： Tonni G,Azzoni D,Ambrosetti F,de Felice C,Ventura A

更新日期：2007-06-01 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

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

更新日期：2004-06-01 00:00:00

abstract：:Galectins are β-galactoside-binding lectins that participate in a wide range of biological processes. Galectins are distributed both inside and outside cells and are believed to have roles in both intra- and extracellular milieus. One of the well-recognized functions of galectins is stabilization of glycoproteins on t...

journal_title：Congenital anomalies

authors： Arikawa T,Simamura E,Shimada H,Nakamura T,Hatta T,Shoji H

更新日期：2014-05-01 00:00:00