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

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：: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

authors： Ema M,Endoh K,Fukushima R,Fujii S,Hara H,Hirata-Koizumi M,Hirose A,Hojo H,Horimoto M,Hoshino N,Hosokawa Y,Imai Y,Inada H,Inawaka K,Itoh K,Katsumata Y,Izumi H,Kato H,Maeda M,Matsumoto K,Matsuo S,Matsuoka T,Mats

更新日期：2014-08-01 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：: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：: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：: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

authors： Ohno M

更新日期：2003-06-01 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：: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：: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：: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：: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：: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 "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：: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

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

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：: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：: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

authors： Nakajima M,Usami M,Nakazawa K,Arishima K,Yamamoto M

更新日期：2008-12-01 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：: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：: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：: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：: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：: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：: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：: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：: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：: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：: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 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