Genomes and Genes
Summary: A malformation of the nervous system caused by failure of the anterior neuropore to close. Infants are born with intact spinal cords, cerebellums, and brainstems, but lack formation of neural structures above this level. The skull is only partially formed but the eyes are usually normal. This condition may be associated with folate deficiency. Affected infants are only capable of primitive (brain stem) reflexes and usually do not survive for more than two weeks. (From Menkes, Textbook of Child Neurology, 5th ed, p247)
Publications238 found, 100 shown here
- [Maternal age and neural tube defects: evidence for a greater effect in spina bifida than in anencephaly]Alexandre R Vieira
Department of Pediatrics, University of Iowa, Iowa City, IA 52242, USA
Rev Med Chil 133:62-70. 2005Recent evidence from birth order data suggest that maternal factors can differently influence anencephaly and spina bifida.
- Prevalence of neural tube defects in economically and socially deprived area of ChinaJie Liu
Department of Chemistry and Open Laboratory of Chemical Biology, Institute of Molecular Technology for Drug Discovery and Synthesis, The University of Hong Kong, Pokfulam Road, Hong Kong, China
Childs Nerv Syst 23:1119-24. 2007..This paper aims to understand the situation and epidemiology trend of neural tube defects in Guizhou province, China from 1996 to 2004...
- Spina bifida and anencephaly prevalence--United States, 1991-2001T J Mathews
MMWR Recomm Rep 51:9-11. 2002Spina bifida and anencephaly are serious birth defects...
- Disruption of the MacMARCKS gene prevents cranial neural tube closure and results in anencephalyJ Chen
The Rockefeller University, New York, NY 10021, USA
Proc Natl Acad Sci U S A 93:6275-9. 1996..that deletion of the MacMARCKS gene prevents cranial neural tube closure in the developing brain, resulting in anencephaly. This suggests a central role for MacMARCKS and the PKC signal transduction pathway in the folding of the ..
- Parental occupational exposure to organic solvents and anencephaly in MexicoC Aguilar-Garduño
Andalusian School of Public Health, Campus Universitario de La Cartuja, Cuesta del Observatorio, 4, 18080 Granada, Spain
Occup Environ Med 67:32-7. 2010To assess the relationship between parental occupational exposure to organic solvents, and the risk of anencephaly in Mexico.
- Anencephaly does not cause structural alterations in the fetal penisJoão P M de Carvalho
Department of Anatomy, Rio de Janeiro State University, Rio de Janeiro, Rio de Janeiro, Brazil
J Sex Med 9:735-42. 2012b>Anencephaly is the most severe neural tube defect in human fetuses. There is an increasing need for tissue replacement in chronic diseases and reconstructive surgeries. Fetal tissues have been used as a substitute for native organs.
- Do assisted conception twins have an increased risk for anencephaly?I Ben-Ami
Department of Obstetrics and Gynecology, Assaf Harofeh Medical Center, Affiliated with Sackler School of Medicine, Tel Aviv University, Zerifin 70300, Israel
Hum Reprod 26:3466-71. 2011The incidence rates of anterior neural tube defects, anencephaly and encephalocele appear increased among twins compared with singletons...
- Interpreting changes in the epidemiology of anencephaly and spina bifida following folic acid fortification of the U.S. grain supply in the setting of long-term trends, Atlanta, Georgia, 1968-2003Lilah M Besser
National Center on Birth Defects and Developmental Disabilities, Centers for Disease Control and Prevention, Atlanta, Georgia, USA
Birth Defects Res A Clin Mol Teratol 79:730-6. 2007The prevalence of anencephaly (AN) and spina bifida (SB) was declining long before fortification of enriched grains in the U.S. with folic acid...
- Sequential observations of exencephaly and subsequent morphological changes by mouse exo utero development system: analysis of the mechanism of transformation from exencephaly to anencephalyAkihiro Matsumoto
Department of Anatomy, Shimane Medical University, 89 1 Enya cho, Izumo, Shimane 693 8501, Japan
Anat Embryol (Berl) 205:7-18. 2002b>Anencephaly has been suggested to develop from exencephaly; however, there is little direct experimental evidence to support this, and the mechanism of transformation remains unclear...
- Update on prevention of folic acid-preventable spina bifida and anencephalyKaren N Bell
Department of Epidemiology, Rollins School of Public Health of Emory University, Gloucester, Massachusetts, USA
Birth Defects Res A Clin Mol Teratol 85:102-7. 2009..Folic acid prevents most cases of spina bifida and anencephaly by raising serum folate levels among women capable of bearing children, as does encouraging women to consume ..
- Reviewing old concepts at the start of a new millenium: growth restriction, adrenal hypoplasia, and thymomegaly in human anencephalyNancy Mazzitelli
Unit of Pathology, Hospital Materno Infantil Ramon Sarda, School of Medicine, University of Buenos Aires, Buenos Aires, Argentina
Teratology 66:105-14. 2002b>Anencephaly has been associated frequently with intrauterine growth retardation (IUGR), consistently with adrenal hypoplasia, and occasionally with an enlarged thymus...
- Prenatal folic acid treatment suppresses acrania and meroanencephaly in mice mutant for the Cart1 homeobox geneQ Zhao
Department of Molecular Genetics, University of Texas, Houston 77030, USA
Nat Genet 13:275-83. 1996..Prenatal treatment of Cart1 homozygous mutants with folic acid suppresses the development of the acrania/meroanencephaly phenotype...
- Methylenetetrahydrofolate reductase gene polymorphisms and the risk of anencephaly in MexicoJulia Blanco Muñoz
Department of Environmental Health, National Institute of Public Health, Cuernavaca, CP 62508, Mexico
Mol Hum Reprod 13:419-24. 2007..We conducted a case-control study specifically for anencephaly, based on the Mexican Epidemiological Surveillance System of Neural Tube Defects to evaluate its association ..
- FOXN1 homozygous mutation associated with anencephaly and severe neural tube defect in human athymic Nude/SCID fetusS Amorosi
Department of Pediatrics, Federico II University of Naples, Naples, Italy
Clin Genet 73:380-4. 2008..a human fetus homozygous for a mutation in FOXN1 gene who lacked the thymus and also had abnormal skin, anencephaly and spina bifida. Moreover, we found that FOXN1 gene is expressed in mouse developing choroid plexus...
- Spontaneous pregnancy outcome after prenatal diagnosis of anencephalyM Jaquier
BJOG 113:951-3. 2006..of providing information and exchanging views with other parents confronted with a prenatal diagnosis of anencephaly. Data were collected from 211 pregnancies where the parents opted not to terminate pregnancy...
- Socioeconomic factors and the risk of anencephaly in a Mexican population: a case-control studyJulia Blanco Munoz
Instituto Nacional de Salud Publica National Institute of Public Health, Cuernavaca, Morelos, Mexico
Public Health Rep 120:39-45. 2005The study was designed to evaluate the association between socioeconomic level (as measured by maternal education, maternal occupation, and monthly family income) and anencephaly.
- Anencephaly: structural characterization of gangliosides in defined brain regionsZ Vukelic
Laboratory for Biomedical Analysis, Institute for Medical Physics and Biophysics, University of Munster, Germany
Biol Chem 382:259-74. 2001..It can be demonstrated that the anencephalic cerebral remnant, as a primitive brain structure, represents a naturally-occurring model to study the ganglioside involvement in induction of aberrant brain development...
- Monoamniotic twin pregnancy discordant for lethal open cranial defect: management dilemmasWaldo Sepulveda
Maternal Fetal Medicine Unit, Department of Obstetrics and Gynecology, San Jose Hospital, University of Santiago de Chile, Santiago, Chile
Prenat Diagn 31:578-82. 2011..To report the sonographic findings, prenatal courses, and management options in four cases of monoamniotic twin pregnancy complicated by a discordant, lethal open cranial vault defect...
- Polytomous logistic regression as a tool for exploring heterogeneity across birth defect subtypes: an example using anencephaly and spina bifidaPhilip J Lupo
Division of Epidemiology and Disease Control, University of Texas School of Public Health, Houston, Texas, USA
Birth Defects Res A Clin Mol Teratol 88:701-5. 2010..Although the validity of using composite phenotypes has been questioned, formal evaluations of the underlying assumption of effect homogeneity across component phenotypes have not been conducted...
- The natural history of anencephalyNidaa Obeidi
Anu Research Centre, Department of Obstetrics and Gynaecology, University College Cork, Cork University Maternity Hospital, Ireland
Prenat Diagn 30:357-60. 2010Early elective termination of pregnancy is the most common outcome of a diagnosis of anencephaly in developed countries. Experience and expertise with management of ongoing pregnancies is limited...
- Anencephaly with holoprosencephalic facies due to ring chromosome 18L M Bird
Children s Hospital, Division of Dysmorphology Genetics, San Diego, CA, USA
Clin Dysmorphol 6:351-8. 1997..Although the association of anencephaly and holoprosencephalic facies is well established, this is the first instance of an accompanying karyotypic ..
- Monoamniotic twins discordant for anencephaly managed conservatively with good outcomes: two case reports and a review of the literatureK I Lim
Division of Maternal Fetal Medicine, Department of Obstetrics and Gynaecology, University of British Columbia, Vancouver, British Columbia, Canada
Ultrasound Obstet Gynecol 26:188-93. 2005Monoamniotic twin pregnancy discordant for anencephaly (MATDA) is a rare occurrence with only seven prior reported cases. Selective termination has been advocated in managing discordant monoamniotic twins...
- Lithium-associated anencephalySandeep Grover
Can J Psychiatry 50:185-6. 2005
- MicroRNAs: potential regulators involved in human anencephalyZhiping Zhang
Graduate School of Peking Union Medical College, Beijing, China
Int J Biochem Cell Biol 42:367-74. 2010..In this study, we show the presence of a specific miRNA expression profile from tissues of fetuses with anencephaly, one of the most severe forms of NTDs. Furthermore, we map the target genes of these miRNAs in the human genome...
- Anencephaly in Singapore: a ten-year series 1993-2002K B L Tan
National Birth Defect Registry, Ministry of Health Singapore, c o KK Women s and Children s Hospital, Level 7, Children s Tower, 100 Bukit Timah Road, Singapore 229899
Singapore Med J 48:12-5. 2007b>Anencephaly is a neural tube defect that is incompatible with life. Previous studies have suggested that there is a racial predilection for this condition. However, local studies have not shown a statistical difference between the races...
- Prevalence of spina bifida and anencephaly during the transition to mandatory folic acid fortification in the United StatesLaura J Williams
National Center on Birth Defects and Developmental Disabilities, Centers for Disease Control and Prevention, Atlanta, Georgia 30341, USA
Teratology 66:33-9. 2002..We sought to determine the prevalences of spina bifida and anencephaly during the transition to mandatory folic acid fortification.
- Decline in the prevalence of spina bifida and anencephaly by race/ethnicity: 1995-2002Laura J Williams
National Center on Birth Defects and Developmental Disabilities, Centers for Disease Control and Prevention, Atlanta, Georgia, USA
Pediatrics 116:580-6. 2005..Fortification has been shown to result in an important decline in the prevalence of spina bifida and anencephaly in the general US population; however, fortification's impact on specific racial/ethnic groups has not been ..
- Trends in the postfortification prevalence of spina bifida and anencephaly in the United StatesSheree L Boulet
National Center on Birth Defects and Developmental Disabilities, CDC, Atlanta, Georgia 30333, USA
Birth Defects Res A Clin Mol Teratol 82:527-32. 2008....
- The prevalence and predictors of anencephaly and spina bifida in TexasMark A Canfield
Birth Defects Epidemiology and Surveillance Branch, Texas Department of State Health Services, Austin, TX, USA
Paediatr Perinat Epidemiol 23:41-50. 2009..This study describes the occurrence and the predictors of neural tube defects (anencephaly and spina bifida) in Texas between 1999 and 2003...
- Prenatal management of anencephalyRebecca J Cook
Faculty of Law, Faculty of Medicine and Joint Centre for Bioethics, University of Toronto, Toronto, Canada
Int J Gynaecol Obstet 102:304-8. 2008..Professional guidance is provided by several professional and institutional codes on management of anencephalic pregnancies...
- Anencephaly and spina bifida among Hispanics: maternal, sociodemographic, and acculturation factors in the National Birth Defects Prevention StudyMark A Canfield
Birth Defects Epidemiology and Surveillance Branch, MC 1964, Texas Department of State Health Services, P O Box 149347, Austin, TX 78714 9347, USA
Birth Defects Res A Clin Mol Teratol 85:637-46. 2009..Study for expected delivery dates from October 1997 through 2003, to determine whether the increased risk in anencephaly and spina bifida (neural tube defects (NTDs)) in Hispanics was explained by selected sociodemographic, ..
- Birth order and neural tube defects: a reappraisalAlexandre R Vieira
Department of Pediatrics, ML 2182, The University of Iowa, Iowa City, IA 52242, USA
J Neurol Sci 217:65-72. 2004..Children with higher birth order are more likely to have spina bifida but not anencephaly. This same effect was also seen for all NTDs combined, which probably reflects the association with spina ..
- Extremely high prevalence of neural tube defects in a 4-county area in Shanxi Province, ChinaZhiwen Li
Institute of Reproductive and Child Health, Peking University Health Science Center, People s Republic of China
Birth Defects Res A Clin Mol Teratol 76:237-40. 2006..In the past, northern China's Shanxi Province has reported the highest incidence of neural tube defects (NTDs) in the world. However, little is known about the epidemiology of NTDs in this area in recent years...
- Anomalies of cerebral structures in acranial neonatesM Dambska
Department of Developmental Neuropathology, Medical Research Centre, Polish Academy of Sciences, Warszawa, Poland
Clin Neuropathol 22:291-5. 2003Eleven cases of newborns with acrania and macroscopically diagnosed anencephaly were neuropathologically examined. They presented changes in which 1 group corresponded to the diagnosis of aprosencephaly...
- First-trimester echogenic amniotic fluid in the acrania-anencephaly sequenceDaniel Cafici
Ultrasound and Prenatal Diagnosis Unit, Ecodiagnostico Alem, Buenos Aires, Argentina
J Ultrasound Med 22:1075-9; quiz 1080-1. 2003..To describe the association between echogenic amniotic fluid and first-trimester fetal acrania...
- Recurrent neural tube defects associated with partial trisomy 2p22-pter: report of two siblings and review of the literatureB Doray
Laboratoire de Cytogenetique, Hopital de Hautepierre, Strasbourg, France
Genet Couns 14:165-72. 2003..Both fetuses had different neural tube defects (craniorachischisis in the first fetus and anencephaly in the second fetus) which were detected by sonographic examination at the end of the first trimester of ..
- Epidemiology of neural tube defectsLauren Frey
Department of Neurology, G H Sergievsky Center, College of Physicians and Surgeons, Columbia University, New York, New York 10032, USA
Epilepsia 44:4-13. 2003..The prevalence at birth of both anencephaly and spina bifida has decreased, but the advent of antenatal diagnosis and elective termination of affected ..
- Comparing the observed and predicted effectiveness of folic acid fortification in preventing neural tube defectsG E Palomaki
J Med Screen 10:52-3. 2003
- Neural tube defects and associated anomalies in a fetal and perinatal autopsy seriesLjudmilla A G Nielsen
Department of Pathology, The Centre of Diagnostic Investigations, Rigshospitalet, Copenhagen University Hospital, Copenhagen, Denmark
APMIS 114:239-46. 2006..Ninety-seven NTD cases were found (4.9%): Spina bifida (38 cases), cephalocele (17 cases) and anencephaly (42 cases). 63% of NTD cases had associated morphologic anomalies...
- Provide the citizens of New Zealand the miracle of folic acid fortificationGodfrey Oakley
Department of Epidemiology, Rollins School of Public Health of Emory University, Atlanta, Georgia 30322, USA
N Z Med J 116:U302. 2003
- Neural tube defects associated with maternal periconceptional dietary intake of simple sugars and glycemic indexGary M Shaw
March of Dimes Birth Defects Foundation, California Birth Defects Monitoring Program, Berkeley, CA 94710, USA
Am J Clin Nutr 78:972-8. 2003..The interdependence of these factors suggests a common pathogenesis via altered glycemic control and insulin demand...
- A decreasing rate of neural tube defects following the recommendations for periconceptional folic acid supplementationAnne Klusmann
Department of General Paediatrics, Children s Hospital, Heinrich Heine University, Dusseldorf, Germany
Acta Paediatr 94:1538-42. 2005..In 1995, the supplementation of folic acid periconceptionally was officially recommended in Germany. The impact of the recommendations on the rate of NTDs was assessed...
- Analysis of seasonal variation of birth defects in AtlantaCsaba Siffel
Division of Birth Defects and Developmental Disabilities, National Center on Birth Defects and Developmental Disabilities, Coordinating Center for Health Promotion, Centers for Disease Control and Prevention, Atlanta, GA 30333, USA
Birth Defects Res A Clin Mol Teratol 73:655-62. 2005..This study examines possible seasonal variation in the prevalence of selected birth defects in a defined study population using graphical displays and three statistical methods...
- Early delivery of a fetus with anencephalyNorman Ford
Caroline Chisholm Centre for Health Ethics, East Melbourne, Victoria, Australia
Ethics Medics 28:1-4. 2003
- Malformations of the cranium, vertebral column, and related central nervous system: morphologic heterogeneity may indicate biological diversityBelinda R Davies
Department of Pathology, General Hospital of Mexico, Mexico City, Mexico
Birth Defects Res A Clin Mol Teratol 67:563-71. 2003..We conducted an autopsy study of neural tube defects (NTDs) to determine whether there is a relation between the localization of the lesion and the sex of the fetus or infant, and the presence of other malformations...
- Understanding the increased risk of neural tube defect-affected pregnancies among Mexico-born women in California: immigration and anthropometric factorsEllen M Velie
Department of Epidemiology, Michigan State University, East Lansing 48824, USA
Paediatr Perinat Epidemiol 20:219-30. 2006..Findings indicate that recent Mexican immigrants have a sevenfold increased risk for NTDs. Maternal BMI and height contributed very little, and inadequate weight gain contributed modestly to the NTD risk disparity for Mexican immigrants...
- Acardius acephalus as one of tripletsM Harma
Minerva Ginecol 56:493-4. 2004
- [Monochorionic, diamniotic triplet pregnancy complicated by twin reversed arterial perfusion sequence. Postpartum autopsy of placenta and acardiac fetus]Witold Malinowski
Katedra Perinatologii Instytutu Kształcenia Medycznego Akademii Swietokrzyskiej, Kiclcach
Ginekol Pol 75:863-8. 2004..Reversed arterial perfusion sequence was confirmed with Doppler sonography. Postpartum autopsy examination of placenta and acardiac fetus (acardius anceps) was detailed described...
- Scientific evidence supporting folic acid fortification of flour in Australia and New ZealandGodfrey P Oakley
Department of Epidemiology, Rollins School of Public Health, Emory University, Atlanta, Georgia 30322, USA
Birth Defects Res A Clin Mol Teratol 70:838-41. 2004..of flour with folic acid is a safe, sustainable, and cost-effective approach for preventing spina bifida and anencephaly, and it is likely to confer multiple health benefits to the adult population...
- [Prenatal ultrasound diagnosis of central nervous system anomalies]H Takeuchi
Department of Obstetrics and Genecology, Juntendo University Urayasu Hospital, Chiba
No To Hattatsu 23:183-8. 1991..For instance, anencephaly should be detected for its lethal prognosis. Hydrocephalus has a certain possibility for intrauterine treatment...
- Neural tube defects: is a decreasing prevalence associated with a decrease in severity?Amanda M Cotter
Coombe Women s Hospital, Dublin 8, Ireland
Eur J Obstet Gynecol Reprod Biol 119:161-3. 2005....
- Lack of serologic evidence for an association between Cache Valley Virus infection and anencephaly and other neural tube defects in TexasJ F Edwards
Texas A and M University, College Station, USA
Emerg Infect Dis 3:195-7. 1997..investigation followed a 1990 and 1991 south Texas outbreak of neural tube defects with a high prevalence of anencephaly and the demonstration in 1987 that in utero infection by CVV was the cause of outbreaks of central nervous ..
- MeroacraniaR Shane Tubbs
Department of Cell Biology, Pediatric Neurosurgery, University of Alabama at Birmingham, Birmingham, Ala, USA
Pediatr Neurosurg 40:95-6. 2004
- Folic acid and the decline in neural tube defects in ArkansasBridget S Mosley
J Ark Med Soc 103:247-50. 2007..Efforts to encourage folic acid consumption should continue to target Arkansas women. NTDs include anencephaly and spina bifida...
- Effect of folic acid fortification on prevalence of neural tube defects in Rhode IslandGeralyn Lambert-Messerlian
J Med Screen 11:106-7. 2004
- The Food and Drug Administration must require the addition of more folic acid in "enriched" flour and other grainsRobert L Brent
Department of Pediatrics, Thomas Jefferson University, A I duPont Hospital for Children, Wilmington, DE 19899, USA
Pediatrics 116:753-5. 2005
- Chromosomal abnormalities in fetuses with open neural tube defects: prenatal identification with ultrasoundW Sepulveda
Fetal Medicine Center, Department of Obstetrics and Gynecology, Clinica Las Condes, Santiago, Chile
Ultrasound Obstet Gynecol 23:352-6. 2004..The role of prenatal ultrasound in detecting those with an underlying chromosomal abnormality was also investigated...
- Are the recommendations on the prevention of neural tube defects working?C Stoll
Laboratoire de Genetique Medicale, Faculte de Medecine, 11, rue Humann, 67085 Strasbourg Cedex, France
Eur J Med Genet 49:461-5. 2006..Recommendations alone did not influence trends in NTD in our country up to 11 years after the confirmation of the effectiveness of folic acid in clinical trials. New strategies are needed...
- [Upper and lower neural tube defects: prevalence and association with illnesses and drugs]J Jesús Pérez-Molina
División de Pediatría, Hospital Civil de Guadalajara Dr Juan I Menchaca, Departamento de Clínicas de la Reproducción Humana y Crecimiento infantil, Centro Universitario de Ciencias de la Salud, Universidad de Guadalajara, Guadalajara, Jalisco
Ginecol Obstet Mex 70:443-50. 2002..To determine the prevalence of upper and lower neural tube defects and identify its association with the exposure to illnesses and drugs during pregnancy...
- Are encephaloceles neural tube defects?Courtney A Rowland
National Center on Birth Defects and Developmental Disabilities, Centers for Disease Control and Prevention, 1600 Clifton Rd, Mailstop E 86, Atlanta, Georgia 30333, USA
Pediatrics 118:916-23. 2006..Encephalocele is classified as a neural tube defect, but questions have been raised regarding whether its epidemiological characteristics are similar to those of other neural tube defects...
- NTD prevalences in central California before and after folic acid fortificationBrian H Chen
March of Dimes Foundation, California Research Division, Oakland, California 94609, USA
Birth Defects Res A Clin Mol Teratol 82:547-52. 2008..This study examined whether the declining prefortification (1989-1996) NTD prevalences continued into the postfortification period (1998-2003) in selected California counties...
- Cost-effectiveness of a folic acid fortification program in ChileAdolfo Llanos
Instituto de Nutricion y Tecnologia de los Alimentos INTA, Universidad de Chile, Chile
Health Policy 83:295-303. 2007..In Chile, fortification of wheat flour with folic acid has resulted in significant reduction in the risk of anencephaly and spina bifida. We investigated the cost-effectiveness implications of this policy.
- [Effects of folic acid fortification in the rates of malformations at birth in Chile]Julio Nazer H
Unidad de Neonatologia, Maternidad, Hospital Clinico, Universidad de Chile, Escuela de Salud Publica, Santiago, Chile
Rev Med Chil 135:198-204. 2007..The effects of folic acid fortification on neural tube defects is well known. Other reports show a beneficial effect of the fortification on orofacial clefts, urinary malformations and defects caused by limb reduction...
- [Risk of recurrence in major craniospinal malformations between 1976 and 2005]Jozsef Gabor Joo
Semmelweis Egyetem, Általános Orvostudományi Kar, I Szülészeti és Nogyógyászati Klinika, Budapest
Orv Hetil 148:689-95. 2007..Craniospinal malformations are among the commonest developmental disorders. Due to its incidence the knowledge of the risk of recurrence is very important not only for the geneticist but also for the married couples...
- Folate levels and N(5),N(10)-methylenetetrahydrofolate reductase genotype (MTHFR) in mothers of offspring with neural tube defects: a case-control studyL E Martínez de Villarreal
Departamento de Patologia, Unidad de Genética y Defectos Congénitos, Facultad de Medicina, Universidad Autónoma de Nuevo León UANL, Monterrey, Nuevo Leon, Mexico
Arch Med Res 32:277-82. 2001..Neural tube defects (NTDs) have been associated with biochemical factors involved in the conversion of homocysteine to methionine as folate deficiency and the mutation 677T in the N(5),N(10)-methylenetetrahydrofolate reductase gene (MTHFR)...
- Acardiac twin fetus with severe hydrops fetalis and bilateral talipes varus deformityMary Lou C Thelmo
Department of Obstetrics and Gynaecology, Kern Medical Center UCLA, Bakersfield, California 93305, USA
Fetal Pediatr Pathol 26:235-42. 2007..At the time of this report, 5 months postpartum, the neonate is growing and developing normally. To our knowledge, this is the first report of severe hydrops fetalis and talipes varus deformity in an acardiac twin...
- Embryology of neural tube defects: information provided by associated malformationsA S Cabaret
Department of Obstetrics and Gynecology, University Hospital, Rennes, France
Prenat Diagn 27:738-42. 2007..To get information about embryologic mechanisms of neural tube defects (NTD), by studying the associated malformations...
- Associated malformations in cases with neural tube defectsC Stoll
Génétique Médicale, Faculte de Medecine, Strasbourg, France
Genet Couns 18:209-15. 2007..Associated malformations were more frequent in infants who had encephalocele (37.5 %) than in infants with anencephaly (11.8 %) or infants with spina bifida (23.7 %)...
- A screen for mutations in human homologues of mice exencephaly genes Tfap2alpha and Msx2 in patients with neural tube defectsK Stegmann
, , 35033 Marburg, Germany
Teratology 63:167-75. 2001..the coding sequences of TFAP2alpha and MSX2 was performed for 204 nonsyndromic NTD patients including cases of anencephaly (n = 10), encephalocele (n = 8), and spina bifida aperta, SBA (n = 183)...
- [Fetal malformations diagnosed using ultrasonography during tri-test. A retrospective study of 1633 fetuses]F Pepe
Regione Sicilia, , Catania, Italy
Minerva Ginecol 53:87-91. 2001..In our study some malformations were not diagnosed previously because this was the first scan (1 case of anencephaly), or because the abnormality was presumably not present in earlier tests (bone dysplasia at early stage of ..
- [Practice of pharmaceutical care based on clinical pharmaceutical research in a community pharmacy]Hiroki Sato
Pharma Daiwa Yuge Pharmacy, Tatutamachi, Kumamoto City, Japan
Yakugaku Zasshi 127:1781-7. 2007....
- Trends in neural tube defects in Western AustraliaCarol Bower
Birth Defects Registry of Western Australia, Centre for Women s Health and Centre for Child Health Research, The University of Western Australia
Aust N Z J Public Health 26:150-1. 2002..To report on trends in neural tube defects in Western Australia, in relation to folate promotion, periconceptional use of folic acid supplements and food fortification with folate...
- [Anencephaly at 20 weeks gestation. What is the optimal gestational age for early diagnosis?]M Porath
Klinik fur Geburtsmedizin, Charite, Campus Virchow Klinikum, Berlin, Germany
Z Geburtshilfe Neonatol 206:114-8. 2002b>Anencephaly is a lethal defect resulting from a disturbed closure of the neural tube. Prenatal diagnosis during first-trimester-scan is essential but implies pitfalls. Three findings of anencephaly at 20 weeks gestation are reported...
- Monocephalus diprosopus, a rare form of conjoined twins, and associated congenital anomaliesEdda L Rodriguez-Morales
Department of Pathology and Laboratory Medicine, Medical Sciences Campus, University of Puerto Rico, San Juan, Puerto Rico
P R Health Sci J 21:237-40. 2002Craniofacial duplication (diprosopus) is a rare form of conjoined twins. A case of monocephalus diprosopus with anencephaly, cervicothoracolumbar rachischisis, and duplication of the respiratory tract and upper gastrointestinal tract is ..
- Folic acid and prevention of spina bifida and anencephaly. 10 years after the U.S. Public Health Service recommendationJ David Erickson
MMWR Recomm Rep 51:1-3. 2002..of folic acid/day on an ongoing basis to reduce their risk for having a pregnancy affected by spina bifida and anencephaly (i.e., neural tube defects [NTDs])...
- Decline of neural tube defects cases after a folic acid campaign in Nuevo León, MéxicoLaura Martínez de Villarreal
Unidad de Genética y Defectos Congénitos, Facultad de Medicina, Universidad Autonoma de Nuevo Leon, Monterrey, N L Mexico
Teratology 66:249-56. 2002Nuevo León is a state in northeastern Mexico, near the border of Texas. Mean mortality rate from 1996-98 due to anencephaly cases was 0.6/1,000...
- Tracking the prevention of folic acid-preventable spina bifida and anencephalyKaren N Bell
Department of Epidemiology, Rollins School of Public Health of Emory University, Atlanta, Georgia 30322, USA
Birth Defects Res A Clin Mol Teratol 76:654-7. 2006The fortification of wheat flour with folic acid prevents most cases of spina bifida and anencephaly by raising serum folate levels among women capable of bearing children, as does encouraging women to consume folic acid supplements ..
- [Effect of flour folic acid fortification on the incidence of cranio encephalic congenital defects]Edgardo Corral S
Unidad de ecografia, Servicio de Obstetricia y Ginecologia, Hospital Regional, Rancagua, Chile
Rev Med Chil 134:1129-34. 2006..Therefore, the effects of folic acid fortification on the incidence of CECD could be different...
- Pre-conceptional vitamin/folic acid supplementation 2007: the use of folic acid in combination with a multivitamin supplement for the prevention of neural tube defects and other congenital anomaliesR Douglas Wilson
Philadelphia PA, USA
J Obstet Gynaecol Can 29:1003-26. 2007..OPTION: Supplementation with folic acid and vitamins is problematic, since 50% of pregnancies are unplanned, and women's health status may not be optimal when they conceive...
- [Ultrasound prenatal diagnostics of birth defects in the Czech Republic in 1994-2007]V Gregor
Oddĕlení lékarské genetiky, Fakultní Thomayerova nemocnice, Praha
Ceska Gynekol 73:340-50. 2008..An analysis of prenatal diagnostics efficiency of selected birth defects in the Czech Republic in 2007. Update of 1994-2007 data according to particular defects...
- [Birth defects in the Czech Republic in 2006]A Sipek
Oddĕlení lékarské genetiky, Fakultní Thomayerova nemocni, Praha
Ceska Gynekol 73:331-40. 2008..An analysis of occurrence of selected birth defects in the Czech Republic in 2006. Comparison of mean incidences of selected birth defects during the 1994-2006 to previous period data...
- A unifying hypothesis for hydrocephalus, Chiari malformation, syringomyelia, anencephaly and spina bifidaHelen Williams
19 Elibank Road, Eltham, London, SE9 1QQ, UK
Cerebrospinal Fluid Res 5:7. 2008..A new hypothesis regarding the pathogenesis, anencephaly and spina bifida is described.Any volume increase in the central nervous system can increase venous pressure...
- Neural tube defects at Siriraj Hospital, Bangkok, Thailand--10 years review (1990-1999)Pornswan Wasant
Division of Medical Genetics, Department of Pediatrics, Faculty of Medicine, Siriraj Hospital, Mahidol University, Bangkok, Thailand
J Med Assoc Thai 88:S92-9. 2005Neural tube defects (NTDs), (including anencephaly, meningomyelocele and encephalocele), are among the most common birth defects, with high associated mortality and morbidity...
- Embryoscopic and cytogenetic analysis of 233 missed abortions: factors involved in the pathogenesis of developmental defects of early failed pregnanciesT Philipp
Ludwig Boltzmann Institute of Clinical Gynecology and Obstetrics, Danube Hospital, Langobardenstrasse 122, 1220 Vienna, Austria
Hum Reprod 18:1724-32. 2003..While chromosomal abnormalities are often the cause of missed abortions, other defects could be involved, which might be screened for by transcervical embryoscopy...
- Risks of selected congenital malformations among offspring of mixed race-ethnicityJuan Yang
March of Dimes Birth Defects Foundation, California Birth Defect Monitoring Program, Berkeley, CA 94710, USA
Birth Defects Res A Clin Mol Teratol 70:820-4. 2004..Little is known about the occurrence of specific congenital malformations among offspring of mixed race-ethnicity...
- Decreasing prevalence of neural tube defects in Utah, 1985-2000Marcia Feldkamp
Department of Pediatrics, Division of Medical Genetics, University of Utah Health Sciences Center, 2C412 SOM, 50 North Medical Drive, Salt Lake City, UT 84132, USA
Teratology 66:S23-8. 2002..Retrospectively and prospectively population-based data was utilized to assess the trend in prevalence for NTDs in Utah from 1985-2000...
- Neural tube defects in relation to use of folic acid antagonists during pregnancyS Hernandez-Diaz
Slone Epidemiology Unit, Boston University School of Public Health, Brookline, MA 02446, USA
Am J Epidemiol 153:961-8. 2001..They compared data on 1,242 infants with NTDs (spina bifida, anencephaly, and encephalocele) with data from a control group of 6,660 infants with malformations not related to vitamin ..
- The incidence of neural tube defects in Norway and the Arkhangelskaja Oblast in Russia and the association with maternal ageJelena G Petrova
PG Vyzletsova, Clinical Childrens Hospital of Arkhangelskaja Oblast, Arkhangelsk, Russia
Acta Obstet Gynecol Scand 88:667-72. 2009To determine the incidence of isolated anencephaly and spina bifida in the Arkhangelskaja Oblast (AO) in Russia and in Norway, and to study the maternal age distribution of these congenital defects.
- Neural tube defects in the sample of genetic counsellingJozsef Gabor Joo
1st Department of Obstetrics and Gynaecology, Faculty of General Medicine, Semmelweis University, Hungary
Prenat Diagn 27:912-21. 2007..We also examined the efficiency of ultrasonography based on autopsy examinations during 26 years...
- [Survival of children born with selected types of birth defects in Czech Republic]A Sipek
Ustav pro péci o matku a díte, Praha
Ceska Gynekol 69:47-52. 2004..The objective was also to analyse the percentage of deceased children born with selected types of congenital defects from the total number of deceased children...
- Neural tube defects are rare among black Americans but not in sub-Saharan black Africans: the case of Yaounde - CameroonA K Njamnshi
Neurology Department, Central Hospital of Yaounde, Faculty of Medicine and Biomedical Sciences FMBS, Univ of Yaounde 1, Cameroon
J Neurol Sci 270:13-7. 2008..Neural tube defects in the middle belt of Nigeria. J Trop Pediatr 1992;38 27-30.][corrected]...
- National estimates and race/ethnic-specific variation of selected birth defects in the United States, 1999-2001Mark A Canfield
Birth Defects Epidemiology and Surveillance Branch, Texas Department of State Health Services, Austin, Texas 78756, USA
Birth Defects Res A Clin Mol Teratol 76:747-56. 2006..In the United States, birth defects affect approximately 3% of all births, are a leading cause of infant mortality, and contribute substantially to childhood morbidity...
- Amniotic fluid hormone profiles during normal and abnormal pregnancyA Sarandakou
2nd Department of Obstetrics and Gynecology, Areteion University Hospital, Athens, Greece
Clin Exp Obstet Gynecol 19:180-8. 1992..In toxemia, SP1, hCG and PRL were elevated, while HPL and ET were very low. In anencephaly and hydrocephaly with spina bifida, AFP was markedly elevated and ET were very low, but in simple hydrocephalus,..
- Elevated maternal serum alpha-fetoprotein with low unconjugated estriol and the risk for lethal perinatal outcomeP A Benn
Department of Pediatrics, University of Connecticut Health Center, Farmington 06030 6140, USA
J Matern Fetal Med 9:165-9. 2000..To determine whether a combination of elevated maternal serum alpha-fetoprotein (MSAFP) and low unconjugated estriol (E3) concentration identifies pregnancies at particularly high risk for fetal abnormality or poor outcome...
- Impact of folic acid fortification of the US food supply on the occurrence of neural tube defectsM A Honein
National Center on Birth Defects and Developmental Disabilities, Mailstop F 45, Centers for Disease Control and Prevention, 4770 Buford Hwy NE, Atlanta, GA 30341 3724, USA
JAMA 285:2981-6. 2001..The US Food and Drug Administration authorized addition of folic acid to enriched grain products in March 1996, with compliance mandatory by January 1998...
- Maternal age-specific risk of non-chromosomal anomaliesM Loane
EUROCAT, Faculty of Life and Health Science, University of Ulster, Jordanstown, Co Antrim, UK
BJOG 116:1111-9. 2009..To determine the excess risk of non-chromosomal congenital anomaly (NCA) among teenage mothers and older mothers...
- Decline in the incidence of neural tube defects after the national fortification of flour (1997-2005)Osama Y Safdar
Department of Pediatrics, King Abdul Aziz University Hospital, Jeddah, Kingdom of Saudi Arabia
Saudi Med J 28:1227-9. 2007..To evaluate the effect of flour fortification with folic acid on the incidence of neural tube defects (NTDs) in babies. We also report the pattern of NTDs, and we compare it with those reported previously...
- [From teratology to mythology: ancient legends]A Stahl
Hopital de la Timone, Marseille, France
Arch Pediatr 17:1716-24. 2010..Cyclopia have inspired the legend of the cyclops. Anencephaly probably explains the description of headless or blemmyes...
- [Week of pregnancy in which birth defects were prenatally diagnosed in the Czech Republic in 1996-2002]V Gregor
Oddĕlení lékarské genetiky, Fakultní Thomayerova nemocnice, Praha
Ceska Gynekol 69:53-9. 2004..As regards data on Down's Syndrome, comparison to the data from other countries...
- The development of the neural crest in the humanFabiola Müller
School of Medicine, University of California, Davis, California, USA
J Anat 211:335-51. 2007..13) Embryonic examples of synophthalmia and anencephaly are cited to emphasize the role of the neural crest in the development of cranial ganglia and the skull.
- Effect of folic acid fortification on the incidence of neural tube defectsZouhair O Amarin
Department of Obstetrics and Gynecology, Jordan University of Science and Technology, Irbid 22110, Jordan
Paediatr Perinat Epidemiol 24:349-51. 2010..number of births at Princess Badea Hospital, as well as the number of pregnancies affected by spina bifida and anencephaly, per 1000 births during the periods before (2000-01), during (2002-04) and after (2005-06) folic acid ..
- Genetic Predisposition & Prevention of Neural Tube Defects (NTDs)MARGARET ELIZABETH contact ROSS; Fiscal Year: 2010..This will begin to reveal mechanisms by which FA, and inositol, acts to suppress NTD. ..
- Using shared mechanisms of morphogenesis to study neural tube defectsJESSICA LEE SULLIVAN-BROWN; Fiscal Year: 2012..Neural tube closure (NTC) is a morphogenetic event, and neural tube defects (NTDs), including spina bifida and anencephaly, are the second leading cause of congenital disorders...
- Roles of microRNAs during vertebrate brain morphogenesisCarter M Takacs; Fiscal Year: 2012..In addition, failure of brain closure (anencephaly) and spinal closure (spina bifida) occur with a high prevalence in humans with devastating effects to nervous ..
- MECHANICS OF EARLY BRAIN AND EYE DEVELOPMENTLarry A Taber; Fiscal Year: 2013..Abnormalities in size and shape of the early brain are known to cause serious neurological disorders such as anencephaly, hydrocephalus, autism, and schizophrenia, while improper eye morphogenesis can cause coloboma and ..
- Novel Ubiquitin Dependent Pathways Regulating Neural Tube Closure &PlacentationIrene E Zohn; Fiscal Year: 2013..Neural tube defects including spina bifida and anencephaly are some of the most common morphological birth defects affecting humans resulting in death of the fetus or ..
- Function of intramembrane aspartic proteaseEvgeny I Rogaev; Fiscal Year: 2012..of the mIMP1 knockout animals are severe brain development defects: exencephaly (brain overgrowth) and anencephaly (brain depletion). In this project we propose to test the following hypotheses...
- Iron Deficiency and Neural Tube DefectsIrene E Zohn; Fiscal Year: 2013Neural tube defects (NTDs) including spina bifida, anencephaly and holoprosencephaly are some of the most common structural birth defects observed in humans...
- Function of Mesendoderm in Closure of the Anterior Neural TubeJennifer O Liang; Fiscal Year: 2012..When the anterior neural tube fails to close, it results in a fatal birth defect called anencephaly in which the brain and skull fail to develop...
- Risk Genes and Environment Interactions in NTDsMARGARET ELIZABETH ROSS; Fiscal Year: 2013DESCRIPTION (provided by applicant): Neural tube defects (NTDs), primarily spina bifida and anencephaly, arise from a complex interplay of multiple gene interactions and environmental exposures...
- MOUSE MODELS FOR NEURAL TUBE DEFECTSMuriel T Davisson; Fiscal Year: 2009..Neural tube defects (NTDs), which include spina bifida and anencephaly, are one of the most frequent and severe developmental anomalies of the central nervous system...
- The Bioavilaibility of Folate in HumansRichard van Breemen; Fiscal Year: 2004..cereal was initiated in the US, the incidence of spina bifida has declined 20 percent, but the incidence of anencephaly remains unchanged, which supports the need for alternate types or higher levels of dietary folates...
- NEURAL TUBE DEFECTSLOWELL WEITKAMP; Fiscal Year: 1990..These defects, which include the fatal brain malformation, anencephaly, and the handicapping condition, spina bifida or meningomyelocele, spina bifida or meningomyelocele, occur in 1 ..
- Patterning of the optic vesicle by extrinsic factorsSabine Fuhrmann; Fiscal Year: 2003..defects affecting the brain and eye, such as holoprosencephaly, congenital anophthalmia, microphthalmia, and anencephaly. Understanding the normal process of development will allow for better prevention and treatment of such defects...
- Analysis of RhoA Mediated Morphogenesis in DrosophilaSUSAN HALSELL; Fiscal Year: 2001..Defects in morphogenesis give rise to birth defects such as spina bifida and anencephaly. While the outcome of such morphogenetic defects is very apparent, the underlying cellular and molecular ..
- Neural Tube Defects Conference 2007 and BeyondMarcy Speer; Fiscal Year: 2007..The NTD complex includes the two most common forms of NTDs, spina bifida and anencephaly, as well as other less frequent manifestations such as encephalocele, craniorachischisis, and iniencephaly...
- Neural Tube Defects 2001 and BeyondMarcy Speer; Fiscal Year: 2001..The NTD complex includes the two most common forms of NTDs, spina bifida and anencephaly, as well as other less frequent manifestations, such as encephalocele, craniorachischisis, and iniencephaly...
- Neural Tube Defects Conference 2005 and BeyondMarcy Speer; Fiscal Year: 2005..The NTD complex includes the two most common forms of NTDs, spina bifida and anencephaly, as well as other less frequent manifestations such as encephalocele, craniorachischisis, and iniencephaly...
- Neural Tube Defects 2003 and BeyondMarcy Speer; Fiscal Year: 2003..The NTD complex includes the two most common forms of NTDs, spina bifida and anencephaly, as well as other less frequent manifestations such as encephalocele, craniorachischisis, and iniencephaly...
- Role of the Zic2 gene in CNS development & malformationStephen Brown; Fiscal Year: 2005..in the pattern and/or level of Zic2 expression result in a variety of malformations such as exencephaly, anencephaly and facial hypoplasia. These results indicate that Zic2 has a critical role in CNS and facial development...
- ROLE OF THE NEUROEPITHELIAL BASAL LAMINA IN NEURULATIONBruce Carlson; Fiscal Year: 1991Birth defects of the CNS such as anencephaly and spina bifida are among the most severe and at the same time poorly understood conditions which may affect an infant...
- REGULATION OF MORPHOGENESIS BY IONS, CAMP AND INOSITIDESWILLIAM BUSA; Fiscal Year: 1991..of teratogens such as Li+ (which is widely employed clinically), and of some birth defects of the neural tube and head, such as anencephaly. They may also fundamentally contribute to our understanding of vertebrate pattern formation.
- FOLATE RECEPTORS IN CRANIOFACIAL MALFORMATIONSRichard Finnell; Fiscal Year: 2002..abstract_text> ..
- GENETIC REGULATION OF FOLATE RESPONSIVE BIRTH DEFECTSRichard Finnell; Fiscal Year: 2009..The hypothesis that the Folbp1 receptor functions in complexes with other proteins within the lipid raft of the cell membrane to act as a signaling molecule challenges existing preconceptions concerning the function of this protein. ..
- FOLATE PATHWAY GENES AND RISK FOR OROFACIAL CLEFTSGary Shaw; Fiscal Year: 2002..abstract_text> ..
- Therapeutic Placebos as Complementary Therapy in ADHDAdrian Sandler; Fiscal Year: 2004....
- ISOLATION & FUNCTION OF THE XLIS NEURONAL MIGRATION GENEMargaret Ross; Fiscal Year: 2003....
- Nitrates, Nitrites, and Nitrosatable Drugs and Risk of Selected Birth DefectsJEAN DIANE BRENDER; Fiscal Year: 2010..The study is also designed to examine whether higher intakes of vitamin C or E decrease these potential risks. ..
- PATHOGENESIS OF ANTICONVULSANT HYPERSENSITIVITY SYNDROMEJAMES LEEDER; Fiscal Year: 2003..It is anticipated that the basic experimental paradigm employed for these studies can also be applied to other idiosyncratic toxicities with suspected drug bioactivation and immune etiologies. ..
- Crooked Tail: Gene Expression in a Neural Tube DefectMargaret Ross; Fiscal Year: 2006..abstract_text> ..
- Molecular Mechanisms of Alcohol Related Birth DefectsShao Yu Chen; Fiscal Year: 2007..This study is expected to provide important new data relative to molecular mechanisms of alcohol-related birth defects. ..
- Ontogeny of Drug Bioactivation and Idiosyncratic ADRsJAMES LEEDER; Fiscal Year: 2007..abstract_text> ..
- Race/Socioeconomic Area Characteristics & Cancer-DetroitEllen Velie; Fiscal Year: 2005..abstract_text> ..
- REGULATION OF MESANGIAL CELL ECM SYNTHESIS BY GLUT1Charles Heilig; Fiscal Year: 2002..Deletion mutation analysis of activated reporter constructs will locate the limiting sequences of these cis-acting elements. ..
- Energy Balance and Breast Cancer in Black & White WomenEllen Velie; Fiscal Year: 2006..abstract_text> ..
- INFRASTRUCTURE FOR RESEARCH ON MENTAL DISABILITIESRoger Stevenson; Fiscal Year: 2003....
- A Population Based Study of Birth Characteristics and Maternal Breast CancerEllen Velie; Fiscal Year: 2008..unreadable] [unreadable] [unreadable] [unreadable]..
- Exogenous Stressors and Birth Defects RisksSuzan Carmichael; Fiscal Year: 2005..This research will enhance scientific understanding of the causes of several common, costly, often deadly birth defects, which will undoubtedly have important implications for their risk assessment and prevention. ..
- Inhibin/Activin Family in Human Cranifocial DevelopmentGeralyn Messerlian; Fiscal Year: 2003..abstract_text> ..