Precurrence risk of birth defects in Hawaii.

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

authors： Wonkam A,Extermann P,Birraux J,Fokstuen S

更新日期：2011-06-01 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：: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

authors： Kawahara Y

更新日期：2014-02-01 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：: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：: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：: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：: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：: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：: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：: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：: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：: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：: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：: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：: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：: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：: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：: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：: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：: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：: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：: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：: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：: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 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：: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：:It is known that neural tube defects are folic acid preventable congenital anomalies. We investigated to what extent this information was disseminated among laywomen and healthcare providers. Questionnaire studies were conducted twice, in 2002 and 2007, for four groups of laywomen and seven groups of healthcare provid...

journal_title：Congenital anomalies

authors： Kondo A,Yamamoto S,Inoue H,Watanabe J,Tada K,Yoshimoto N

更新日期：2009-09-01 00:00:00