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Dissertations / Theses on the topic 'Defeito do tubo neural'

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Published: 4 June 2021
Last updated: 1 February 2022

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1

Pereira, Jesus Henrique Nicola. "Perfil epidemiológico e nível sérico de ácido fólico em mães de crianças portadoras de defeito do tubo neural." Universidade Federal de Sergipe, 2011. https://ri.ufs.br/handle/riufs/3744.

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Neural tube defects (NTDs), which is a congenital malformation, in significant part on the statistics of perinatal morbidity and mortality due to their high incidence rates. The DA can be limited to the central nervous system and / or peripheral, and may also include the overlying tissues (bones, muscles and connective tissue). Folic acid (FA) is a nutrient that plays a fundamental role in the process of cell multiplication. And the remarkable importance of folic acid in preventing NTDs where published studies portray the relationship between the levels of PA and the birth of children with NTD
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2

Costa, Aline Teixeira da. "O aconselhamento genético como prática clínica: a anencefalia em foco." Instituto Fernandes Figueira, 2010. https://www.arca.fiocruz.br/handle/icict/8139.

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Made available in DSpace on 2014-08-06T17:29:38Z (GMT). No. of bitstreams: 2 Aline Costa.pdf: 2324687 bytes, checksum: 04115292021785e54c4bf64f9a7bc8fd (MD5) license.txt: 1914 bytes, checksum: 7d48279ffeed55da8dfe2f8e81f3b81f (MD5) Previous issue date: 2010<br>Fundação Oswaldo Cruz. Instituto Fernandes Figueira. Departamento de Ensino. Programa de Pós-Graduação em Saúde da Criança e da Mulher. Rio de Janeiro, RJ, Brasil.<br>O objetivo desse trabalho foi discutir o aconselhamento genético (AG) como prática clínica, focalizando a anencefalia que é um defeito de fechamento de tubo neural (DFT
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3

Garro, Laila Sabino. "Identificação dos fatores associados à sensibilização e alergia ao látex em pacientes com defeito de fechamento do tubo neural." Universidade de São Paulo, 2013. http://www.teses.usp.br/teses/disponiveis/5/5146/tde-02082013-145640/.

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A alergia ao látex representa um importante problema de saúde em pacientes denominados de risco e está relacionada com a ocorrência de diversas manifestações clínicas, inclusive reações potencialmente fatais. O estudo de fatores associados à sensibilização e alergia ao látex é fundamental para o estabelecimento de medidas eficazes quanto à prevenção, tratamento e conhecimento do prognóstico. O principal grupo de risco para a alergia ao látex são os pacientes com defeito de fechamento do tubo neural. O estudo atual teve como objetivo principal identificar fatores clínicos e sorológicos associad
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4

González, Gobartt Elena. "Study of the Secundary Neurulation in the chick embryo, a model to understand neural tube defects = Estudio de la neurulación secundaria en el embrión del pollo, un modelo para entender los defectos del tubo neural." Doctoral thesis, Universitat de Barcelona, 2019. http://hdl.handle.net/10803/668284.

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Body axis elongation is a hallmark of the vertebrate embryo, which also comprises the morphogenesis of the caudal neural tube (NT). The contribution of bipotential neuromesodermal progenitors (NMPs) to the cranio-caudal elongation of the embryo is beginning to be understood. However, the signalling pathways and tissue remodelling events required for shaping the caudal NT from NMPs remain largely unknown, even though the failure in this process generates caudal neural tube defects (NTDs). The caudal NT in amniote embryos forms by a process termed secondary neurulation (SN). SN shapes a secondar
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5

Manrique, Muñoz Susana. "Anestesia y monitorización intraoperatoria en la cirugía intrauterina de los defectos del tubo neural." Doctoral thesis, Universitat Autònoma de Barcelona, 2018. http://hdl.handle.net/10803/462060.

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La espina bífida representa el defecto congénito del tubo neural más grave compatible con la vida. Su forma más frecuente es el mielomeningocele, caracterizado por la falta de cierre del arco posterior vertebral en las semanas 3ª-4ª del desarrollo embrionario, momento en el cual la placa neural no completaría su desarrollo provocando un canal espinal abierto, con exposición al líquido amniótico de las meninges y otros elementos neurales durante el resto de la gestación. Los beneficios de la cirugía prenatal de los defectos del tubo neural y, concretamente del mielomeningocele, han sido ampli
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6

Lucon, Danielle Ribeiro 1977. "Estudo do cariotipo constitucional e dos tecidos envolvidos na lesão de crianças portadoras de defeito do tubo neural (DTN) por meio de analise citogenetica convencional e FISH." [s.n.], 2004. http://repositorio.unicamp.br/jspui/handle/REPOSIP/308797.

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Orientador: Denise Pontes Cavalcanti<br>Dissertação (mestrado) - Universidade Estadual de Campinas, Faculdade de Ciencias Medicas<br>Made available in DSpace on 2018-08-04T02:20:07Z (GMT). No. of bitstreams: 1 Lucon_DanielleRibeiro_M.pdf: 2254166 bytes, checksum: 614aec1320ad4a53e11d0565909047cd (MD5) Previous issue date: 2004<br>Resumo: A associação entre anomalias cromossômicas, especialmente de aneuploidias e defeito do tubo neural (DTN) é bem conhecida, principalmente se o DTN é associado com outra malformação. Recentemente, estudos em modelos animais, utilizando a técnica de hibridizaçã
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7

Zomignani, Andrea Peterson 1979. "Caracterização da população de recém-nascidos com diagnóstico de encefalocele." [s.n.], 2012. http://repositorio.unicamp.br/jspui/handle/REPOSIP/312061.

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Orientadores: Sergio Tadeu Matins Marba, Helder José Lessa Zambelli<br>Dissertação (mestrado) - Universidade Estadual de Campinas, Faculdade de Ciências Médicas<br>Made available in DSpace on 2018-08-22T03:05:39Z (GMT). No. of bitstreams: 1 Zomignani_AndreaPeterson_M.pdf: 1128762 bytes, checksum: 59ae9805910c4b220c7bfa8d2e7bcbab (MD5) Previous issue date: 2012<br>Resumo: Objetivo: Descrever uma população de recém-nascidos com encefalocele. Método: Estudo restrospectivo, descritivo e analítico por análise dos prontuários de recém-nascidos com diagnóstico de encefalocele, no Hospital da Mulher
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8

Costa, Suelen Freitas. "Defeitos do tubo neural causam alterações estruturais no ureter? Estudo em fetos humanos." Universidade do Estado do Rio de Janeiro, 2013. http://www.bdtd.uerj.br/tde_busca/arquivo.php?codArquivo=6050.

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Coordenação de Aperfeiçoamento de Pessoal de Nível Superior<br>Anencefalia é o defeito do tubo neural mais severo. A morfologia do ureter de fetos anencéfalos é desconhecida. O objetivo deste trabalho é analisar a estrutura do ureter de fetos humanos normais e anencéfalos (FHA). Nós estudamos 16 ureteres de 8 fetos sem anomalias congênitas (4 masculinos e 4 femininos) com idades entre 16 e 27 semanas pós concepção (SPC) e 14 ureteres de 7 FHA (4 masculinos e 3 femininos) com idades entre 19 e 33 SPC. Os ureteres foram dissecados e emblocados em parafina. Foram feitos cortes com 5 m e depois co
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9

Conceição, Ricardo Campelo da. "Conhecimento de médicos e enfermeiros obstetras sobre a prevenção dos defeitos de fechamento do tubo neural." Universidade Federal de Juiz de Fora (UFJF), 2009. https://repositorio.ufjf.br/jspui/handle/ufjf/3904.

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Submitted by Renata Lopes (renatasil82@gmail.com) on 2017-03-29T18:19:17Z No. of bitstreams: 1 ricardocampelodaconceicao.pdf: 3005415 bytes, checksum: 93485f733d9f5ab38c981b4eca76fc2b (MD5)<br>Approved for entry into archive by Adriana Oliveira (adriana.oliveira@ufjf.edu.br) on 2017-03-30T11:24:14Z (GMT) No. of bitstreams: 1 ricardocampelodaconceicao.pdf: 3005415 bytes, checksum: 93485f733d9f5ab38c981b4eca76fc2b (MD5)<br>Made available in DSpace on 2017-03-30T11:24:14Z (GMT). No. of bitstreams: 1 ricardocampelodaconceicao.pdf: 3005415 bytes, checksum: 93485f733d9f5ab38c981b4eca76fc2b (MD5)
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Santos, Mara Lúcia Pacheco Lemos dos. "Impacto do enriquecimento de alimentos com ácido fólico na ocorrência de defeitos do tubo neural." Universidade Federal de Uberlândia, 2015. https://repositorio.ufu.br/handle/123456789/12837.

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Introduction: Neural Tube Defects (NTD) is a congenital malformation, witch results from the incomplete closure of the neural tube during the fourth week of embryonic development. It is a complex malformation, the second more frequent in the United States of America. It can be prevented by using folic acid (FA) from pre-conception period until the early months of pregnancy. Mandatory flours enrichment with FA occurs in Brazil since 2002. The aim of this study was to evaluate the impact of this action on NTD occurrence, especially on the meningomyelocele sub type, at the Clinical Hospital of th
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11

Costa, Filho José Djandir. "Alterações na medula óssea de pacientes com doenças autoimunes sob tratamento com imunossupressores." reponame:Repositório Institucional da UFC, 2014. http://www.repositorio.ufc.br/handle/riufc/13591.

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COSTA FILHO, José Djandir. Alterações na medula óssea de pacientes com doenças autoimunes sob tratamento com imunossupressores. 2014. 77 f. Dissertação (Mestrado em Patologia) – Faculdade de Medicina, Universidade Federal do Ceará, Fortaleza, 2014.<br>Submitted by denise santos (denise.santos@ufc.br) on 2015-10-16T13:46:04Z No. of bitstreams: 1 2014_dis_jdcostafilho.pdf: 11212405 bytes, checksum: b3b4c92daa2dfbe7542c7021704a9084 (MD5)<br>Approved for entry into archive by denise santos(denise.santos@ufc.br) on 2015-10-16T14:24:21Z (GMT) No. of bitstreams: 1 2014_dis_jdcostafilho.pdf: 11212405
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12

Freire, Thiago Garcia. "Efeitos da dieta deficiente ou suplementada com ácido fólico em ratas wistar durante a fase gestacional em parâmetros inflamatórios e neurotróficos nas mães e na prole adulta : risco para o desenvolvimento da esquizofrenia." reponame:Repositório Institucional da UNESC, 2017. http://repositorio.unesc.net/handle/1/5235.

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Dissertação de mestrado apresentada ao Programa de Pós-Graduação em Ciências da Saúde da Universidade do Extremo Sul Catarinense - UNESC, para a obtenção do título de Mestre em Ciências da Saúde.<br>A nutrição materna, em particular o aporte adequado de ácido fólico (AF), exerce um papel determinante para o desenvolvimento cerebral e pode influenciar na susceptibilidade a doenças na prole, inclusive a esquizofrenia. Com base nisso, o objetivo deste estudo foi investigar o efeito da dieta AIN 93, também conhecida como dieta controle, da dieta controle suplementada com AF em diferentes doses (5,
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13

Oliveira, André Luiz Baptista de. "Epidemiologia dos defeitos de fechamento do tubo neural no Hospital de Clinicas de Porto Alegre." reponame:Biblioteca Digital de Teses e Dissertações da UFRGS, 2008. http://hdl.handle.net/10183/13567.

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14

Gibert, Castañer María José. "Características epidemiológicas, preventivas y metabólicas de los defectos del tubo neural en la isla de Mallorca." Doctoral thesis, Universitat Autònoma de Barcelona, 2004. http://hdl.handle.net/10803/4603.

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15

Felix, Temis Maria. "Metabolismo da homocisteína e defeitos do tubo neural : um estudo bioquímico e molecular no sul do Brasil." reponame:Biblioteca Digital de Teses e Dissertações da UFRGS, 2002. http://hdl.handle.net/10183/3700.

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Os defeitos de fechamento de tubo neural constituem uma das malformações mais freqüentes na espécie humana, apresentando alta morbi-mortalidade. Sua etiologia é considerada multifatorial, estando envolvidos fatores genéticos e ambientais. Estes fatores estão relacionados principalmente com o metabolismo da homocisteína. Realizamos um estudo de caso-controle com o objetivo de estudar os fatores bioquímicos e genéticos relacionados ao DTN na nossa população. Em pares de afetados com DTN e suas mães e pares de pacientes normais e suas mães foram avaliados dosagem de folato, vitamina B12, homocist
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16

Almeida, Rodrigo Coutinho de. "Prevalência de doença celíaca em mães de crianças com defeitos de fechamento do tubo neural no feto." reponame:Repositório Institucional da UnB, 2008. http://repositorio.unb.br/handle/10482/3513.

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Dissertação (mestrado)—Universidade de Brasília, Faculdade de Ciências da Saúde, 2008.<br>Submitted by Diogo Trindade Fóis (diogo_fois@hotmail.com) on 2009-10-07T18:18:30Z No. of bitstreams: 1 2008_RodrigoCDeAlmeida.pdf: 1076004 bytes, checksum: 807743d41ffb03ac91d37b830ba0a7b8 (MD5)<br>Approved for entry into archive by Marília Freitas(marilia@bce.unb.br) on 2010-02-03T23:38:13Z (GMT) No. of bitstreams: 1 2008_RodrigoCDeAlmeida.pdf: 1076004 bytes, checksum: 807743d41ffb03ac91d37b830ba0a7b8 (MD5)<br>Made available in DSpace on 2010-02-03T23:38:13Z (GMT). No. of bitstreams: 1 2008_RodrigoCD
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Mezzomo, Cíntia Leal Sclowitz. "PREVENÇÃO DE DEFEITOS DO TUBO NEURAL: PREVALÊNCIA DO USO DA SUPLEMENTAÇÃO DE ÁCIDO FÓLICO E FATORES ASSOCIADOS EM GESTANTES NA CIDADE DE PELOTAS RS, BRASIL." Universidade Catolica de Pelotas, 2006. http://tede.ucpel.edu.br:8080/jspui/handle/tede/397.

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Made available in DSpace on 2016-03-22T17:27:38Z (GMT). No. of bitstreams: 1 cintia.pdf: 399237 bytes, checksum: 411794e4a2f292dd1123c42f8b410d51 (MD5) Previous issue date: 2006-11-20<br>To determine folic acid use and associated factors, a cross-sectional population-based study was carried out in the five maternities from Pelotas - RS, Brazil. Data were collected from April 1st to August 15th, 2006. 1450 women were interviewed. A standard questionnaire was applied in the hospitals. Statistical analysis was done by Poisson Regression. Prevalence of folic acid consumption during pregnancy was
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18

Netto, Cristina Brinckmann Oliveira. "S100B como marcador de lesão neural : estudos em pacientes com Síndrome de Down, com defeitos do tubo neural e de secreção pelo tecido adiposo." reponame:Biblioteca Digital de Teses e Dissertações da UFRGS, 2004. http://hdl.handle.net/10183/85362.

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As proteínas S100 são uma família de proteínas ligantes de Ca2+ com ampla distribuição ao longo dos tecidos de vertebrados. O gene da proteína S100B está localizado no cromossomo 21, e ela é expressa principalmente em astrócitos, estando envolvida em uma série de patologias, tanto do sistema nervoso central como em tecidos periféricos. Nesta tese estudamos o papel da proteína S100B na síndrome de Down, patologia genética que se origina da trissomia do cromossomo 21, bem como seu potencial como marcador de dano do sistema nervoso, em pacientes com defeito do tubo neural. Adicionalmente, procura
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19

Rodrigues, Humberto Gabriel. "Estudo da prevalência de defeitos de tubo neural no Brasil e do padrão de consumo de ácido fólico em gestantes do vale do Jequitinhonha, Brasil." reponame:Repositório Institucional da UnB, 2014. http://repositorio.unb.br/handle/10482/18411.

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Tese (doutorado)—Universidade de Brasília, Programa de Pós-Graduação em Ciências da Saúde, 2014.<br>Submitted by Cristiane Mendes (mcristianem@gmail.com) on 2015-07-01T17:47:03Z No. of bitstreams: 1 2014_HumbertoGabrielRodrigues.pdf: 1013592 bytes, checksum: 588c28fdf3e65e72feecc5430b6dea97 (MD5)<br>Approved for entry into archive by Raquel Viana(raquelviana@bce.unb.br) on 2015-07-02T12:35:46Z (GMT) No. of bitstreams: 1 2014_HumbertoGabrielRodrigues.pdf: 1013592 bytes, checksum: 588c28fdf3e65e72feecc5430b6dea97 (MD5)<br>Made available in DSpace on 2015-07-02T12:35:46Z (GMT). No. of bitstreams:
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Baldino, Camila Florido. "Prevalência de defeitos do tubo neural no estado de São Paulo antes e após a fortificação das farinhas com ácido fólico." Universidade de São Paulo, 2011. http://www.teses.usp.br/teses/disponiveis/7/7141/tde-13022012-153129/.

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Introdução: Defeitos do tubo neural (DTN) são as malformações mais freqüentes do sistema nervoso. Decorrem de falha no fechamento do tubo neural embrionário entre 21-28 dias após a concepção e representam importante causa de morbimortalidade infantil passível de prevenção. Os defeitos mais freqüentes são anencefalia e espinha bífida. Considerando que o ácido fólico reduz o risco de DTN, a fortificação compulsória das farinhas de trigo e milho com ferro e ácido fólico passou a ser obrigatória no Brasil desde junho de 2004. Assim, delineou-se este estudo com vistas a proporcionar uma base de ref
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21

Dueñas, Roque Milagros Mariasela. "Defectos del tubo neural en recién nacidos atendidos en el Hospital Nacional Guillermo Almenara Irigoyen – Essalud, Lima 2005-2012." Bachelor's thesis, Universidad Nacional Mayor de San Marcos, 2012. https://hdl.handle.net/20.500.12672/12275.

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Publicación a texto completo no autorizada por el autor<br>Describe cómo se presentan los defectos del tubo neural en recién nacidos atendidos en el Hospital Guillermo Almenara Irigoyen durante los años 2005 al 2012. Se realizó un estudio descriptivo retrospectivo sobre defectos del tubo neural en recién nacidos atendidos en el Hospital Guillermo Almenara Irigoyen durante los años 2005 al 2012, para lo cual se realizó la revisión de historias clínicas y se recogió los datos de interés, los mismos que fueron trasladados a una base de datos y analizadas con el programa excel para Macintosch. Se
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22

Nishida, Fernanda Shizue. "Análise de intervenção da fortificação de farinhas com ácido fólico na prevalência de defeitos do fechamento do tubo neural no Brasil." Universidade de São Paulo, 2015. http://www.teses.usp.br/teses/disponiveis/7/7141/tde-31082016-124951/.

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Introdução: Malformações congênitas afetam 2-3% recém-nascidos e estima-se que metade desses problemas poderiam ser prevenidos. Considerando que o ácido fólico reduz o risco de DTN, que a fortificação compulsória das farinhas, de trigo e milho com ferro ácido fólico ocorre desde julho de 2004 e ainda que o Brasil é um país de grande heterogeneidade. Justifica-se, conhecer a evolução dos DTN e sua distribuição espaço-temporal, com vistas a contribuir para o aperfeiçoamento das políticas públicas que visem a prevenção e a minimização desse problema na população brasileira. Objetivo: Analisar a i
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23

Rodrigues, Adriana Teixeira. "Obesidade e o nascimento de bebês com fendas lábio-palatinas." Universidade de São Paulo, 2006. http://www.teses.usp.br/teses/disponiveis/6/6136/tde-03112006-081338/.

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Introdução - A incidência das fendas lábio – palatinas, é de 1 para cada 700 nascidos vivos na população mundial, trata-se de uma má-formação congênita que pode ocorrer devido a fatores endógenos ou exógenos. Objetivo – Relacionar o índice de massa corporal (IMC) materno com o nascimento de bebês com fendas. Métodos – Trata-se de um estudo tipo caso-controle. Foram incluídas 800 mães com idade entre 18 e 35 anos, que não apresentaram suspeita ou confirmação de diabete mellitus ou gravídica e bebês com peso entre 2.500 e 4.500 gramas nascidos entre a 37ª e a 42ª semana de gestação que não apres
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Lopes, Luiz Fernando. "Estados pre-leucemicos na infancia : estudo clinico e hematologico." [s.n.], 1994. http://repositorio.unicamp.br/jspui/handle/REPOSIP/308237.

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Orientador : Irene Lorand-Metze<br>Dissertação (mestrado) - Universidade Estadual de Campinas, Faculdade de Ciencias Medicas<br>Made available in DSpace on 2018-07-18T21:02:51Z (GMT). No. of bitstreams: 1 Lopes_LuizFernando_M.pdf: 1769021 bytes, checksum: 2e3ed72bd95352cbd2d349e686cbc53e (MD5) Previous issue date: 1994<br>Resumo: Fizemos uma avaliação retrospectiva de 18 crianças com pré-leucemia entre 320 pacientes que foram encaminhados ao Departamento de Pediatria do Hospital A.C.Camargo - São Paulo - entre janeiro de 1984 a dezembro de 1991 com diagnóstico prévio de leucemia para ser con
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Dal, Fabbro Mateus. "Estudo da evolução e prognostico comparativos de neonatos com hidrocefalia congenita isolada ou associada a defeitos do fechamento do tubo neural." [s.n.], 2008. http://repositorio.unicamp.br/jspui/handle/REPOSIP/309589.

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Orientador: Edmur Franco Carelli, Helder Jose Lessa Zambelli<br>Dissertação (mestrado) - Universidade Estadual de Campinas, Faculdade de Ciencias Medicas<br>Made available in DSpace on 2018-08-12T10:27:48Z (GMT). No. of bitstreams: 1 DalFabbro_Mateus_M.pdf: 627253 bytes, checksum: e7dc6279817a6c66308fc4d45f8d1a59 (MD5) Previous issue date: 2008<br>Resumo: Introdução: A hidrocefalia congênita é uma condição freqüente, estando associada a um terço de todas as malformações congênitas do sistema nervoso. O conhecimento clínico e epidemiológico da hidrocefalia congênita e dos variados fatores eti
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Pereira, Michelle Zanon. "Consumo alimentar em gestantes e os possíveis efeitos da fortificação obrigatória de farinhas com ácido fólico na ocorrência de defeitos de tubo neural no Distrito Federal." reponame:Repositório Institucional da UnB, 2007. http://repositorio.unb.br/handle/10482/2942.

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Dissertação (mestrado)—Universidade de Brasília, Faculdade de Ciências da Saúde, Departamento de Nutrição, 2007.<br>Submitted by Larissa Ferreira dos Angelos (ferreirangelos@gmail.com) on 2010-01-05T16:40:16Z No. of bitstreams: 1 2007_MichelleZanonPereira.PDF: 1578843 bytes, checksum: bc401bedadb01d37e352ac9270ab6501 (MD5)<br>Approved for entry into archive by Joanita Pereira(joanita) on 2010-01-05T19:40:32Z (GMT) No. of bitstreams: 1 2007_MichelleZanonPereira.PDF: 1578843 bytes, checksum: bc401bedadb01d37e352ac9270ab6501 (MD5)<br>Made available in DSpace on 2010-01-05T19:40:32Z (GMT). No.
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Estanislao, Marcus Vinicius. "Avaliação do risco de malformação congênita em recém-nascidos de mães expostas ao trihalometano." Universidade de São Paulo, 2009. http://www.teses.usp.br/teses/disponiveis/5/5137/tde-08092009-150938/.

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Este estudo tratou de avaliar possíveis efeitos a saúde de recémnascidos cujas mães foram expostas ao trihalometanos (THM) contidos nas água de abastecimento público da cidade de São Paulo. O processo de tratamento da água de abastecimento utilizado no Brasil envolve uma etapa de desinfecção cujo objetivo é eliminar microorganismos patogênicos presentes na água. O cloro é um dos principais agentes desinfetantes. Apesar de pesquisas apontarem benefícios para a saúde humana no uso do cloro durante o processo de desinfecção, quando na água de abastecimento há a presença de matéria orgânica ocorre
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28

Burren, Katie Ann. "Metabolic analysis of neural tube defects." Thesis, University College London (University of London), 2007. http://discovery.ucl.ac.uk/1444563/.

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Neural tube defects (NTDs), such as exencephaly and spina bifida, occur when the neural tube fails to close properly during embryonic development. Folic acid supplementation has been shown to effectively reduce the occurrence of NTDs and low folate is a known risk factor for human NTDs. However despite extensive research, the mechanism explaining how the folate status affects the incidence of NTDs remains unknown. One effect of sub-optimal folate could be suppression of the methylation cycle, which is interlinked with the folate cycle. To explore this hypothesis, a method has been developed to
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29

Garabedian, Berdj Hratchia. "The genetics of neural tube defects and twinning /." Thesis, McGill University, 1992. http://digitool.Library.McGill.CA:80/R/?func=dbin-jump-full&object_id=56978.

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Several investigators have suggested that "upper" neural tube defects (NTD's)--anencephaly, encephalocele, and thoracic spina bifida--are etiologically different from "lower" NTD's (lumbo-sacral spina bifida). This hypothesis was primarily based on the observations that the two types have different sex ratios and recurrence rates and that the NTD cases within one sibship are concordant for NTD type. In order to test this, the above figures were calculated in a sample of NTD probands from Montreal and Newfoundland. The findings were not consistent with the hypothesis. However, a previously unre
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30

Murdoch, Jennifer Nancy. "Genetic analysis of neural tube defects in the mouse." Thesis, University College London (University of London), 1999. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.325078.

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31

Makelarski, Jennifer Ann. "Selected environmental exposures and risk of neural tube defects." Diss., University of Iowa, 2010. https://ir.uiowa.edu/etd/704.

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With a birth prevalence of 1 in 1000, neural tube defects (NTD)s contribute considerably to morbidity and healthcare costs. Known genetic and environmental (non-inherited) risk factors for NTDs account for a small portion of risk, suggesting unidentified risk factors. In animal studies, maternal alcohol and pesticide exposures, independently, led to excess neural cell death, resulting in too few cells for neural tube closure. Human studies report no association between alcohol exposure and NTDs, but small to moderate positive associations for pesticide exposure. Such human etiologic studies of
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32

Paudyal, Anju. "Genetic, cellular and molecular defects in mouse mutants with severe neural tube defects." Thesis, Open University, 2010. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.530492.

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Neural tube defects are one of the most common birth defects. This thesis includes genetic, molecular and cellular analysis of three mouse mutants with neural tube defects. chuzhoi was identified from an ENU G3 screen and exhibits craniorachischisis through failure to initiate neural tube closure. In this thesis, I show that chuzhoi carries a point mutation affecting a splice-site in the Ptk7 gene, leading to addition of three extra amino acids in the protein. Through phenotypic analysis I show that chuzhoi has a wider midline and a smaller length to width ratio, suggesting a defect in converg
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33

Shum, Alisa Sau Wun. "The development of neural tube defects in the mouse embryo." Thesis, University of Oxford, 1992. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.306186.

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34

Palmer, A. J. "Cellular and molecular mechanisms underlying Pax3-related neural tube defects." Thesis, University College London (University of London), 2015. http://discovery.ucl.ac.uk/1469295/.

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The neural tube is the developmental precursor of the central nervous system (CNS). Neural tube defects (NTDs) are among the commonest birth defects, affecting approximately 1 in 1000 pregnancies. They occur when the neural tube fails to close completely during neurulation, and result in an open region of the CNS. Spina bifida is an NTD affecting the spinal region, and it can lead to lifelong disability, including incontinence, motor difficulties, and paralysis below the level of the lesion. Exencephaly is an NTD affecting the cranial region, and is not compatible with life. Splotch mice carry
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35

Mallela, Murali Krishna. "Dysregulated Apoptosis in Teratogen-Induced Neural Tube Defects in Mice." Diss., Virginia Tech, 2011. http://hdl.handle.net/10919/37337.

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Dysregulation of apoptosis during development is a possible mechanism for teratogen-induced birth defects. Neural tube defects (NTDs) are the second most common fetal malformations. Non-specific stimulation of maternal immune system prevents birth defects. This study investigated the role of dysregulated apoptosis in formation of NTDs from two teratogens: valproic acid (VA) and an unknown teratogen found in tap water. Interferon- γ (IFN γ) was used to stimulate maternal immunity to evaluate the role of altered apoptosis in this protective mechanism. Apoptosis was evaluated using flow cytom
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36

Melin, Vanessa Estella. "Neural tube defects in rodents caused by a tap water contaminant." Thesis, Virginia Tech, 2011. http://hdl.handle.net/10919/76879.

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In May of 2006, the Hrubec group suddenly began to observe neural tube defects (NTDs) in embryos of untreated control mice. Unintentional exposure to a teratogenic agent in tap water was identified as the cause. We aimed to identify the contaminant, but first we demonstrated that the NTDs were pathological being present on both gestational day 9 and 10. We also found that a second species, rats, developed NTDs when exposed to tap waters. Disinfection by-products (DBPs) arise when natural organic matter in municipal water sources reacts with disinfectants used in the water treatment process
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37

Fleming, Angeleen Louise. "Development and prevention of neural tube defects in the mouse embryo." Thesis, University College London (University of London), 1998. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.287550.

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38

Hill, Denise Suzanne. "Investigations into arsenate-induced neural tube defects in a mouse model." [College Station, Tex. : Texas A&M University, 2007. http://hdl.handle.net/1969.1/ETD-TAMU-3274.

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39

Simpamba, Micah Mutuna. "Profiling children with neural tube defects and exploring experiences of mothers." University of the Western Cape, 2012. http://hdl.handle.net/11394/4615.

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Magister Scientiae (Physiotherapy) - MSc(Physio)<br>Neural tube defects (NTDs) are the world‘s second most common birth defects after cardiovascular defects. In developing countries, poor access to health care services among children with NTDs contributes to early infant deaths, while those who survive live with severe disabilities. In Zambia, all children with NTDs in need of surgery are referred to Lusaka and physiotherapy services are not available in health facilities below the first level hospitals. The aim of the current study was to determine the profile of children with NTDs and to exp
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40

Lee, Man-yan Michelle. "The feasibility and economics of folic acid fortification in China a means to prevent neural tube defects /." Click to view the E-thesis via HKUTO, 2009. http://sunzi.lib.hku.hk/hkuto/record/B42994962.

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41

Nakatsu, Tomoko. "Neural tube closure in humans initiates at multiple sites : Evidence from human embryos and implications for the Pathogenesis of neural tube defects." Kyoto University, 2000. http://hdl.handle.net/2433/151427.

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42

Pena, de Castro S. C. "Proteomic and molecular analysis of neural tube defects in the mouse embryo." Thesis, University College London (University of London), 2011. http://discovery.ucl.ac.uk/1302398/.

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The aim of this project was to investigate the causes of spinal neural tube defects (NTDs), using the curly tail (ct/ct) mouse as a model system. The ct mutant allele corresponds to a hypomorphic allele of grainyhead-like-3 (Grhl3) gene. A two-dimensional protein gel electrophoresis (2-DE) based approach was used to compare the proteome profile of ct/ct embryos with a genetically matched wild-type strain at the stage of spinal neural tube closure. This analysis revealed a series of proteins whose abundance or 2-DE gel migration are abnormal in ct/ct embryos. Detailed follow-up analysis was per
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43

Cogram, Patricia. "Inositol and protein kinase C in the prevention of neural tube defects." Thesis, University College London (University of London), 2008. http://discovery.ucl.ac.uk/1445217/.

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A number of mouse genetic mutants develop neural tube defects (NTDs). In some cases, defects can be prevented by administration of folic acid during pregnancy, whereas in other mutants there is no response. This parallels the human situation in which a proportion of NTDs appear resistant to folic acid therapy. Curly tail is the best characterised mouse model of folic acid-resistant NTDs. Previously it was shown that the incidence of spina bifida in curly tail mice can be reduced by administration of inositol during embryonic development. In this thesis, I compared the effectiveness of two isom
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44

Sudiwala, Sonia Jaishri. "Gene-environment interactions in the causation and prevention of neural tube defects." Thesis, University College London (University of London), 2018. http://discovery.ucl.ac.uk/10046049/.

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The aim of the work described in this thesis is to investigate the mechanisms underlying neural tube defects (NTDs), birth defects of the developing central nervous system. The study makes use of mouse models of NTDs, and particularly focuses on the interaction between nutritional factors and genetic risk factors in determining susceptibility to NTDs. In humans some NTDs are preventable by folic acid supplementation, but this is not fully effective so investigation of alternative strategies was a key focus. The efficacy of oral nucleotide and/or inositol supplementation was evaluated for preve
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45

Mancino, Franca. "Genetic linkage studies of the splotch neural tube defect gene on mouse chromosome 1." Thesis, McGill University, 1992. http://digitool.Library.McGill.CA:80/R/?func=dbin-jump-full&object_id=56943.

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Genetic linkage studies of the spontaneously arising splotch allele, Sp, were conducted to identify closely linked molecular markers as a preliminary step for the isolation of the mutant gene. Restriction fragment length polymorphism and microsatellite size variation analyses were employed to follow the segregation of Sp in relation to eight or ten loci previously assigned to the proximal portion of mouse chromosome 1. Although results from an interspecific ((Sp/+ x Mus spretus)F1-Sp x C57BL/6J) backcross study were inconclusive, a panel of 125 intraspecific ((Sp/+ x CBA/J)F1-Sp x CBA/J) backc
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46

Lee, Man-yan Michelle, and 李文昕. "The feasibility and economics of folic acid fortification in China: a means to prevent neural tube defects." Thesis, The University of Hong Kong (Pokfulam, Hong Kong), 2009. http://hub.hku.hk/bib/B42994962.

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47

Buamah, P. K. "A study of biochemical methods for the prenatal diagnosis of neural tube defects." Thesis, University of Newcastle Upon Tyne, 1985. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.370153.

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48

Macdonald, Karen Beth. "The genetics and embryopathology of exencephaly in SELH/Bc mice." Thesis, University of British Columbia, 1988. http://hdl.handle.net/2429/27983.

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This project was the first study of the genetics and embryo-pathology of exencephaly in a partially inbred mouse stock, SELH/Bc. Exencephaly was found in 17% of SELH fetuses. Analysis of day 8-9 gestation embryos indicated that SELH embryos were collectively normal in general development, but delayed in neural tube closure relative to overall or general development compared to two normal strains of mice, ICR/Be and SWV/Bc. Exencephaly was observed to be caused by a failure of fusion of the cranial neural folds in the mesencephalon region in SELH. All SELH embryos appeared to be abnormal in th
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49

Nakouzi, Ghunwa Akram. "Genetic and Phenotypic Response of Neural Tube Defect Mouse Mutants to Folic Acid." Case Western Reserve University School of Graduate Studies / OhioLINK, 2009. http://rave.ohiolink.edu/etdc/view?acc_num=case1246538783.

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50

Devine, Scott T. West Suzanne L. "The identification and validation of neural tube defects in the General Practice Research Database." Chapel Hill, N.C. : University of North Carolina at Chapel Hill, 2007. http://dc.lib.unc.edu/u?/etd,1221.

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Thesis (Ph. D.)--University of North Carolina at Chapel Hill, 2007.<br>Title from electronic title page (viewed Mar. 26, 2008). "... in partial fulfillment of the requirements for the degree of Doctor of Philosophy in the School of Public Health (Epidemiology)." Discipline: Epidemiology; Department/School: Public Health.
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