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

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：: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

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

更新日期：2003-12-01 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：: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

authors： Ohta K,Sakata-Haga H,Fukui Y

更新日期：2010-06-01 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：: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：: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：: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：: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：: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：: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：:We describe a 5-year-old girl with features resembling Trichorhinophalangeal syndrome, type I (sparse scalp hair, bushy eyebrows, bulbous nose, long philtrum, cone-shaped epiphyses, clinobrachydactyly, epiphyseal changes in the femoral head and short stature), and appendicular exostoses similar to trichorhinophalangea...

journal_title：Congenital anomalies

authors： Kikuchi N,Ogino T,Kashiwa H,Muragaki Y

更新日期：2007-09-01 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：: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：: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：: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：: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：: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：: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

authors： Wachi T,Kitagawa M

更新日期：2004-12-01 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：: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：: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：: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

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：: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：: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：: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：: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

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

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