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

abstract：:Molecular pathogenesis of human cerebral malformations is briefly reviewed from a neuropathologic viewpoint, with emphasis on holoprosencephaly and neuronal migration disorders. Immunopathologic approaches are useful in elucidating the essential pathomechanism of these anomalies. In alobar holoprosencephaly, for insta...

journal_title：Congenital anomalies

authors： Mizuguchi M

更新日期：2003-03-01 00:00:00

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

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

更新日期：2005-12-01 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

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

abstract：:In vitro fertilization (IVF) and other assisted reproductive technologies (ART) are effective treatments for infertility and are widely provided at infertility clinics. Although IVF and related ART procedures are generally considered safe, some studies have suggested an excess occurrence of major malformations, low bi...

journal_title：Congenital anomalies

authors： Shiota K,Yamada S

更新日期：2005-06-01 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：:So far, 46 cases of placental mesenchymal dysplasia have been reported worldwide. We encountered 15 cases of placental mesenchymal dysplasia (PMD) including 7 cases delivered in our hospital. The incidence of PMD in our hospital was therefore, 7/30,758 (0.02%). The PMD had a peculiar appearance. In the gross findings,...

journal_title：Congenital anomalies

authors： Arizawa M,Nakayama M

更新日期：2002-12-01 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：: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

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

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：:For the last 25 years, it has been proven that the occurrence or recurrence of neural tube defects can be prevented with the administration of folic acid before and early pregnancy. At present, over 80 countries in the world, except Japan, have mandated the fortification of wheat flour and/or rice with folic acid, whi...

journal_title：Congenital anomalies

authors： Kondo A,Matsuo T,Morota N,Kondo AS,Okai I,Fukuda H

更新日期：2017-09-01 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：: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

authors： Forrester MB,Merz RD

更新日期：2008-06-01 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

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：: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 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

authors： Forrester MB,Merz RD

更新日期：2008-03-01 00:00:00

abstract：:Even though from preclinical testing to drug risk labeling, the situation with drugs in pregnancy has improved substantially since the thalidomide scandal, there is still an increasing need to provide healthcare professionals and patients with updated individualized risk information for clinical decision making. For t...

journal_title：Congenital anomalies

authors： Schaefer C

更新日期：2011-03-01 00:00:00

abstract：:Recent development of biomedical engineering as well as basic biology and medicine has enabled us to induce cell-based regeneration of body tissue to self-repair defective tissue or substitute biological functions of damaged organs. For successful tissue regeneration, it is indispensable to give cells an environment s...

journal_title：Congenital anomalies

authors： Tabata Y

更新日期：2004-09-01 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：: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：:Müllerian duct anomalies are infrequently encountered clinical problems and often present with difficulty in diagnosis. A high level of suspicion is the key to diagnosis, which is usually made soon after menarche. However, this is the first reported case of uterus didelphys with obstructed hemivagina and pyocolpos wit...

journal_title：Congenital anomalies

authors： Rana R,Pasrija S,Puri M

更新日期：2008-09-01 00:00:00

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：:Craniofrontonasal syndrome (CFNS) is characterized by craniosynostosis, hypertelorism, a broad nasal tip and occasionally cleft lip and palate, and is caused by a mutation in the ephrin-B1 gene (EFNB1). The study of naturally occurring human EFNB1 mutations offers a unique opportunity to better define the critical por...

journal_title：Congenital anomalies

authors： Torii C,Izumi K,Nakajima H,Takahashi T,Kosaki K

更新日期：2007-03-01 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

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

更新日期：2016-05-01 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：: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

authors： Takano T,Matsuwake K,Yoshioka S,Takeuchi Y

更新日期：2010-03-01 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：: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：: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：: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：: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