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Dissertations / Theses on the topic 'Hirschsprungs'

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Published: 3 June 2025

Last updated: 31 July 2025

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1

Savik, Karolina. "Jag är den jag är och jag är vid liv!" Thesis, Malmö universitet, Fakulteten för hälsa och samhälle (HS), 2018. http://urn.kb.se/resolve?urn=urn:nbn:se:mau:diva-24252.

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Mörk, A och Savik, K Jag är den jag är och jag är vid liv. En kvalitativ studie gällande unga vuxna med analatresi och Hirschsprungs sjukdom. Examensarbete i Sexologi 30 hp. Malmö Universitet: Fakulteten för hälsa och samhälle, Institutionen för socialt arbete, 2018Syftet med denna kvalitativa studie är att undersöka unga vuxna med analatresi och Hirschsprungs sjukdom med fokus på frågor om sexualitet, relation till kroppen och social gemenskap. Studien syftar vidare till att belysa gruppens behov vid överlämningen från barnkliniken till vuxenvården. Empirin i studien innefattar tre olika foku

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2

Wester, Fleur Matilda, and Emma Lilja. "Digital teknik för kommunikation mellan vårdnadshavare och barnsjukvård : En intervjustudie om hur vårdnadshavare till barn som har anorektal missbildning och/eller Hirschsprungs sjukdom upplever kommunikation via en applikation." Thesis, Malmö universitet, Fakulteten för hälsa och samhälle (HS), 2018. http://urn.kb.se/resolve?urn=urn:nbn:se:mau:diva-26705.

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Bakgrund: Vårdnadshavare till barn som har anorektal missbildning (ARM) och Hirschsprungs sjukdom (HD) uttrycker ett behov av stöd från barnsjukvården. Studier visar att kommunikation mellan hemmet och barnsjukvården via digital teknik ökar vårdnadshavares trygghet. Kommunikation via digital teknik, såsom en applikation kan vara en lösning till ökat stöd även för vårdnadshavare till barn som har ARM och/eller HD. Syfte: Syftet var att belysa hur vårdnadshavare till barn som har ARM och/eller HD upplever kommunikation med barnsjukvården via en applikation. Metod: Kvalitativ metod med induktiv a

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3

Mörk, Annette. "JAG ÄR DEN JAG ÄR OCH JAG ÄR VID LIV!" Thesis, Malmö universitet, Fakulteten för hälsa och samhälle (HS), 2018. http://urn.kb.se/resolve?urn=urn:nbn:se:mau:diva-27042.

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Mörk, A och Savik, K Jag är den jag är och jag är vid liv. En kvalitativ studie gällande unga vuxna med analatresi och Hirschsprungs sjukdom. Examensarbete i Sexologi 30 hp. Malmö Universitet: Fakulteten för hälsa och samhälle, Institutionen för socialt arbete, 2018Syftet med denna kvalitativa studie är att undersöka unga vuxna med analatresi och Hirschsprungs sjukdom med fokus på frågor om sexualitet, relation till kroppen och social gemenskap. Studien syftar vidare till att belysa gruppens behov vid överlämningen från barnkliniken till vuxenvården. Empirin i studien innefattar tre olika foku

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4

Tang, Sze-man. "Genetic dissection of Hirschsprung's disease." View the Table of Contents & Abstract, 2009. http://sunzi.lib.hku.hk/hkuto/record/B43854990.

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5

Tang, Sze-man, and 鄧詩敏. "Genetic dissection of Hirschsprung's disease." Thesis, The University of Hong Kong (Pokfulam, Hong Kong), 2009. http://hub.hku.hk/bib/B44037922.

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6

Serafini, Suellen. "Utilização da biópsia de mucosa e submucosa retal para o diagnóstico da Moléstia de Hirschsprung." Universidade de São Paulo, 2017. http://www.teses.usp.br/teses/disponiveis/5/5141/tde-27102017-091421/.

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Introdução: A moléstia de Hirschsprung (MH) se caracteriza pela ausência de neurônios intramurais em segmentos variáveis do intestino grosso, levando a suboclusão intestinal. Na forma mais frequente o reto-sigmoide está comprometido. A biopsia retal é o método histológico de escolha no diagnóstico da MH. O método da hematoxilina e eosina (HE) é classicamente utilizado na prática histopatológica. Nessa técnica, um fragmento de parede total do reto é processado através de parafinização, para posteriormente ser seccionado e corado por HE. Esta coloração evidencia células neurais em intestinos nor

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7

Dayraut, Jean. "Maladie de Hirschsprung : aspects cliniques et génétiques, à propos de six observations." Bordeaux 2, 1995. http://www.theses.fr/1995BOR2M126.

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8

DEFAUW, BENOIT. "La maladie de hirschsprung : a propos de 124 observations." Lille 2, 1992. http://www.theses.fr/1992LIL2M252.

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9

Julies, Monique G. "Molecular-genetic analysis of Hirschsprung's disease in South Africa." Thesis, Stellenbosch : Stellenbosch University, 2000. http://hdl.handle.net/10019.1/51835.

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Thesis (MSc)--Stellenbosch University, 2000.<br>ENGLISH ABSTRACT: Hirschsprung's disease, or aganglionic megacolon, is a common cause of intestinal obstruction in neonates and is associated with the congenital absence of intrinsic ganglion cells in the myenteric and submucosal plexuses of the gastrointestinal tract. The affected area is usually restricted to the distal part of the colon (short segment disease), but total colonic or intestinal involvement occurs in some patients (long segment disease). DNA analysis was performed on samples from 53 unrelated sporadic HSCR patients to sea

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10

Moore, Samuel William. "The study of the etiology of post-surgical obstruction in patients with Hirschsprung's disease." Thesis, University of Cape Town, 1993. http://hdl.handle.net/11427/26152.

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11

朱江 and Jiang Zhu. "RET transcriptional regulation by HOXB5 in Hirschsprung's disease." Thesis, The University of Hong Kong (Pokfulam, Hong Kong), 2012. http://hdl.handle.net/10722/193397.

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Hirschsprung’s disease (HSCR) is the major enteric nervous system anomaly affecting newborns with high incidence in Asians. HSCR is a congenital complex genetic disorder characterized by a lack of enteric ganglia along a variable length of the intestine. The receptor tyrosine kinase gene (RET) is the major HSCR gene and cis-elements in the promoter and intron of RET gene are crucial for RET expression. Abnormal RET expression leading to insufficient RET activity causes defective development of the enteric nervous system and is implicated in the pathogenesis of the Hirschsprung’s disease. The h

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12

Croaker, Geoffrey David Hain. "Clinical and Molecular Biological Studies in Hirschsprung's Disease." Thesis, The University of Sydney, 2002. http://hdl.handle.net/2123/520.

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HSCR has been felt to be a polygeneic disease on the basis of an incompletely penetrant sex modified transmission, which may be either autosomal dominant or recessive in different kindred. During the 1990's several of the genes involved in this transmission have come to light. Other genes remain to be discovered.

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13

Croaker, Geoffrey David Hain. "Clinical and Molecular Biological Studies in Hirschsprung's Disease." University of Sydney. Paediatrics and Child Health, 2002. http://hdl.handle.net/2123/520.

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HSCR has been felt to be a polygeneic disease on the basis of an incompletely penetrant sex modified transmission, which may be either autosomal dominant or recessive in different kindred. During the 1990's several of the genes involved in this transmission have come to light. Other genes remain to be discovered.

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14

Svensson, Pär-Johan. "Molecular studies on Hirschsprung disease and "Ondine's curse" /." Stockholm, 1999. http://diss.kib.ki.se/1999/91-628-3476-2/.

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15

Leon, Yuk-yu, and 梁毓裕. "Functional analysis of RET mutations in Chinese Hirschsprung's diseasepatients." Thesis, The University of Hong Kong (Pokfulam, Hong Kong), 2007. http://hub.hku.hk/bib/B39634383.

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16

Salomon, Remi. "La maladie de Hirschsprung : un modèle de maladie multigénique." Paris 5, 2000. http://www.theses.fr/2000PA05N084.

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17

GRYNBERG, DE BROUTELLES ISABEL. "Mamometrie anorectale dans la maladie de hirschsprung chez l'enfant." Amiens, 1988. http://www.theses.fr/1988AMIEM036.

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18

Leon, Yuk-yu. "Functional analysis of RET mutations in Chinese Hirschsprung's disease patients." Click to view the E-thesis via HKUTO, 2007. http://sunzi.lib.hku.hk/hkuto/record/B39634383.

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19

Tang, Wai-kiu, and 鄧慧翹. "Re-sequencing of neuregulin 1 to search for rare variants in Chinese hirschsprung patients." Thesis, The University of Hong Kong (Pokfulam, Hong Kong), 2011. http://hub.hku.hk/bib/B46599897.

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20

Beach, Sarah C. "Impact of Age on Submucosal Nerve Measurements in Rectal Biopsies from Patients with Hirschsprung Disease." The Ohio State University, 2020. http://rave.ohiolink.edu/etdc/view?acc_num=osu1586548909282138.

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21

Tran, Quoc Viet. "NEW INSIGHTS IN THE DIAGNOSIS AND MANAGEMENT OF HIRSCHSPRUNG’S DISEASE." Doctoral thesis, Universite Libre de Bruxelles, 2018. https://dipot.ulb.ac.be/dspace/bitstream/2013/263487/4/Thesis.pdf.

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Hirschsprung’s disease is a common pathology in pediatric surgery. Besides, long-term outcome of surgically-treated patients remains a crucial issue. The management of Hirschsprung’s disease has remarkably advanced over the years, but difficulties persist particularly in the developing countries (such as Vietnam), where essential diagnostic procedures, such as preoperative histopathological exploration techniques/ facilities (mainly for acetylcholinesterase staining), or adequate postoperative management and follow-up requirements are unavailable.We, therefore, contemplated to work-out a relev

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22

Arnaud, Alexis. "Développement postnatal du dialogue microbiote – cellules épithéliales intestinales – système nerveux entérique : applications à la maladie de Hirschsprung." Thesis, Rennes 1, 2019. http://www.theses.fr/2019REN1B017.

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La maladie de Hirschsprung (MH) est une malformation congénitale rare liée à l’absence de cellule ganglionnaire du système nerveux entérique responsable d’une occlusion néonatale. Sa morbidité reste importante en particulier en raison des entérocolites (HAEC) dont la physiopathologie est encore mal connue. Une rupture de l’homéostasie intestinale est suspectée. Nous avons étudié la maturation postnatale de l’homéostasie intestinale chez le porcelet sain (étude PIGLET), mis en place un modèle animal d’aganglionnose (étude BAC) et analysé le microbiote de patients atteints de MH (étude MICROPRUN

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23

Yung, Sum-yee Jasmine, and 容心怡. "Establishment and direct differentiation of induced pluripotent stem cells from a Hirschsprung's patient." Thesis, The University of Hong Kong (Pokfulam, Hong Kong), 2014. http://hdl.handle.net/10722/209471.

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Hirschsprung’s (HSCR) disease is a congenital disorder in which some enteric ganglion cells are absent in the colon due to incomplete colonization of neural crest cells (NCCs) in the hindgut, causing chronic constipation. A significant number of HSCR patients also clinically present with other NC- associated disorders, such as ventricular and atrial septal defects (VSD/ASD). A hypomorphic allele or SNP of a major gene, RET, causes or imparts susceptibility to HSCR. In particular, SNP (rs2435357) residing in the intron 1 of RET gene was found to be highly associated with HSCR and lead to reduce

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24

Bauer, Stefanie Alexandra. "Wissensbasis Genetik der blastomatösen Tumoren im Kindesalter und des Morbus Hirschsprung." [S.l.] : [s.n.], 2005. http://deposit.ddb.de/cgi-bin/dokserv?idn=973451033.

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25

Puliti, Aldamaria. "Génétique moléculaire de la maladie de Hirschsprung : analyse d'un locus humain et d'un modèle murin de la maladie, le mutant "Dom"." Paris 12, 1996. http://www.theses.fr/1996PA120037.

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La maladie de hirschsprung (hscr) est une affection congenitale de l'innervation intestinale, caracterisee par une absence de cellules ganglionnaires, derivees des cretes neurales, qui se traduit, chez les patients, par un megacolon congenital. L'observation de patients hscr presentant des anomalies chromosomiques variees et l'existence de modeles murins affectant des locus genetiques distincts, ont suggere que plusieurs genes pourraient etre impliques. Nous avons identifie un patient porteur d'une deletion chromosomique (de110q11. 2-q21. 2) suggerant la presence d'un gene de susceptibilite a

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26

Clément-Ziza, Mathieu. "Approche transcriptomique du système nerveux entérique et de la maladie de Hirschsprung." Paris 5, 2007. http://www.theses.fr/2007PA05D015.

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La maladie de Hirschsprung (MH) est due à un défaut de développement des cellules de crêtes neurales (CCN) entraînant une anomalie du système nerveux entérique (SNE). Afin d'identifier des gènes impliqués dans la MH, la physiologie du SNE et son développement, nous avons exploré le transcriptome i) des CCN indifférenciées, ii) du colon sain, iii) des ganglions du plexus nerveux myentérique (PNM), iv) des cellules gliales du PNM, et v) des neurones du PNM chez l'homme. Nous avons isolé les cellules d'intérêt par microdissection laser après avoir mis au point une technique de microdissection sou

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27

Lau, Ko-chun Danny. "Evaluation of thyroid transcription factor-1 (TTF1) and homeobox B5 (HOXB5) as Hirschsprung disease (HSCR) susceptibility loci." View the Table of Contents & Abstract, 2006. http://sunzi.lib.hku.hk/hkuto/record/B36842291.

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28

Rakoff, Sasha. "The microenvironment of the normal and aganglionic chick bowel." Thesis, University of Oxford, 1997. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.244236.

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29

Comes, Giovana Tuccille. "Qual é a melhor técnica de biópsia retal para o diagnóstico de disganglionoses intestinais em crianças? Uma revisão complementar através da análise de proporções de séries de casos." Botucatu, 2019. http://hdl.handle.net/11449/181859.

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Orientador: Pedro Luiz Toledo de Arruda Lourenção<br>Resumo: Introdução: A constipação intestinal é uma condição debilitante que afeta mais de 27% da população, representando um problema de saúde pública, além de corresponder a 3% de todas as consultas pediátricas. Existem várias causas congênitas e adquiridas. A Doença de Hirschsprung (DH) é a principal causa congênita de constipação e envolve 90% dos casos congênitos. O diagnóstico de disganglionoses intestinais depende da análise histopatológica de biópsias retais. Nessa revisão sistemática, levantamos todas as series de casos disponíveis n

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Speare, Ruth Marian. "Identification and characterisation of mucin abnormalities in the ganglionic bowel in Hirschsprung's disease." Thesis, Queen Mary, University of London, 2010. http://qmro.qmul.ac.uk/xmlui/handle/123456789/424.

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Hirschsprung’s disease (HD) is a congenital abnormality of unknown origin, characterised by a lack of ganglion cells in the distal colon which results in functional colonic obstruction. The major cause of morbidity and mortality in these children results from an inflammatory condition called enterocolitis. Mucins are large glycoproteins produced by intestinal cells which are a vital part of the colonic defensive barrier to infection. Previous work has found that this barrier is deficient in children with HD in the aganglionic colon and in the immediately adjacent ganglionic colon and that this

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31

Wilkinson, David. "Origin, behaviour and control of enteric nervous system progenitor cells in Hirschsprung's disease." Thesis, University of Liverpool, 2014. http://livrepository.liverpool.ac.uk/2009128/.

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The enteric nervous system (ENS) arises mainly from cells exiting the vagal neural crest, entering the bowel and migrating caudally. A failure in this migratory process is thought to result in the clinical entity Hirschsprung’s disease (HSCR), which is typically characterised by the absence of enteric ganglia in the colon and rectum (aganglionosis). Untreated HSCR may present with life-threatening bowel obstruction in the first few days of life. However, despite recent surgical advances children and adults still suffer significant life-long post-operative morbidity. ENS progenitor cells (ENSPC

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32

Lourenção, Pedro Luiz Toledo de Arruda [UNESP]. "Desafios diagnósticos na doença de Hirschsprung: aplicabilidade de novos métodos imunohistoquímicos e endoscópicos." Universidade Estadual Paulista (UNESP), 2012. http://hdl.handle.net/11449/104573.

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Made available in DSpace on 2014-06-11T19:33:24Z (GMT). No. of bitstreams: 0 Previous issue date: 2012-08-22Bitstream added on 2014-06-13T18:45:05Z : No. of bitstreams: 1 lourencao_plta_dr_botfm.pdf: 2438220 bytes, checksum: 2ab7ae217c75319cb0f431af1a533ca6 (MD5)<br>Coordenação de Aperfeiçoamento de Pessoal de Nível Superior (CAPES)<br>A identificação pré-operatória da zona de transição na Doença de Hirschsprung (DH) tornou-se um passo fundamental para o planejamento cirúrgico, especialmente para a técnica de abaixamento endorretal transanal. O presente estudo tem como objetivo investigar pr

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Valerini, Felipe Gilberto [UNESP]. "Aplicabilidade e acurácia do enema opaco na investigação diagnóstica da doença de Hirschsprung." Universidade Estadual Paulista (UNESP), 2017. http://hdl.handle.net/11449/151429.

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Submitted by FELIPE GILBERTO VALERINI valerini (fgilbertov@hotmail.com) on 2017-08-25T22:58:19Z No. of bitstreams: 1 Dissertação Mestrado_Felipe2(2).pdf: 1349091 bytes, checksum: eb12ed54c19918a234e35421aaedb6aa (MD5)<br>Approved for entry into archive by Luiz Galeffi (luizgaleffi@gmail.com) on 2017-08-29T12:47:43Z (GMT) No. of bitstreams: 1 valerini_fg_me_bot.pdf: 1349091 bytes, checksum: eb12ed54c19918a234e35421aaedb6aa (MD5)<br>Made available in DSpace on 2017-08-29T12:47:43Z (GMT). No. of bitstreams: 1 valerini_fg_me_bot.pdf: 1349091 bytes, checksum: eb12ed54c19918a234e35421aaedb6aa

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Lourenção, Pedro Luiz Toledo de Arruda. "Desafios diagnósticos na doença de Hirschsprung : aplicabilidade de novos métodos imunohistoquímicos e endoscópicos /." Botucatu, 2012. http://hdl.handle.net/11449/104573.

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Orientador: Maria Aparecida Marchesan Rodrigues<br>Coorientador: Bonifácio Katsunori Takegawa<br>Banca: Erika Veruska Paiva Ortolan<br>Banca: Márcia Guimarães Silva<br>Banca: Cleverson Teixeira Soares<br>Banca: Gisele Alboghetti Nai<br>Resumo: A identificação pré-operatória da zona de transição na Doença de Hirschsprung (DH) tornou-se um passo fundamental para o planejamento cirúrgico, especialmente para a técnica de abaixamento endorretal transanal. O presente estudo tem como objetivo investigar prospectivamente o valor da determinação colonoscópica da zona de transição na avaliação pré-opera

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Valerini, Felipe Gilberto. "Aplicabilidade e acurácia do enema opaco na investigação diagnóstica da doença de Hirschsprung." Botucatu, 2017. http://hdl.handle.net/11449/151429.

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Orientador: Pedro Luiz Toledo de Arruda Lourenção<br>Resumo: Introdução: O diagnóstico da Doença de Hirschsprung (DH) realizado através de biópsias de reto possui alta sensibilidade e especificidade, mas é invasivo, com riscos de complicações. Desta forma, exames de triagem, menos invasivos, servem para indicar quais pacientes devem ser submetidos às biópsias. A identificação da zona de transição (ZT) ao enema opaco permite identificar a transição entre o segmento espástico agangliônico e o cólon dilatado, determinando a extensão da zona agangliônica. Essa análise é subjetiva e relacionada a r

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Attié-Bitach, Tania. "Pathologie moleculaire et expression embryonnaire des genes impliques dans la maladie de hirschsprung." Paris 5, 1999. http://www.theses.fr/1999PA05N099.

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Bordeaux, Marie-Claire. "Caractérisation de deux nouveaux récepteurs à dépendance, RET et TrkC." Lyon 1, 2003. http://www.theses.fr/2003LYO10093.

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L'apoptose joue un rôle fondamental dans le développement du système nerveux, afin d'éliminer les neurones surnuméraires ou projettant leur axone dans des zones inappropriées. Les récepteurs à activité tyrosine kinase RET (récepteur au GDNF), et TrkC (récepteur à la Neutrophine 3) sont impliqués dans le développement du système nerveux et sont aussi des oncogènes, leur dérégulation pouvant être associée à des cancers. Cette double facette des fonctions exercées par ces récepteurs rapelle celle des récepteurs à dépendance, qui sont capables, suite à la fixation de leur ligand, de stimuler la pr

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Takegawa, Bonifácio Katsunori [UNESP]. "Abaixamento endoanal do colón no tratamento da moléstia de Hirschsprung: avaliação clínica e manométrica." Universidade Estadual Paulista (UNESP), 2010. http://hdl.handle.net/11449/99896.

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Made available in DSpace on 2014-06-11T19:30:23Z (GMT). No. of bitstreams: 0 Previous issue date: 2010-02-23Bitstream added on 2014-06-13T19:39:57Z : No. of bitstreams: 1 takegawa_bk_dr_botfm.pdf: 2505732 bytes, checksum: caff44b11cfdc05e43c5608674bbc096 (MD5)<br>O abaixamento endoanal do cólon (AEC) introduzido em 1998 por De la Torre & Ortega tem tornado obsoleta as cirurgias realizadas em dois ou mais tempos, na correção da moléstia de Hirschsprung (MD). Esta técnica é preconizada principalmente em recém-nascido e lactente. O objetivo deste trabalho é descrever nossa casuística demonstran

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Takegawa, Bonifácio Katsunori. "Abaixamento endoanal do colón no tratamento da moléstia de Hirschsprung : avaliação clínica e manométrica /." Botucatu : [s.n.], 2010. http://hdl.handle.net/11449/99896.

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Orientador: Maria Aparecida Coelho de Arruda Henry<br>Banca: Renê Ganberini Prado<br>Banca: Alexandre Bakonyi Neto<br>Banca: Antonio Gonçalves Oliveira Filho<br>Banca: Flávio de Oliveira Pileggi<br>Resumo: O abaixamento endoanal do cólon (AEC) introduzido em 1998 por De la Torre & Ortega tem tornado obsoleta as cirurgias realizadas em dois ou mais tempos, na correção da moléstia de Hirschsprung (MD). Esta técnica é preconizada principalmente em recém-nascido e lactente. O objetivo deste trabalho é descrever nossa casuística demonstrando os aspectos clínicos, cirúrgicos, complicações, seguiment

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40

Fu, Ming, and 付明. "Neural crest cell development in the nervous system of normal gut and in Hirschsprung's disease." Thesis, The University of Hong Kong (Pokfulam, Hong Kong), 2003. http://hub.hku.hk/bib/B29281970.

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41

Lau, Ko-chun Danny, and 劉高駿. "Evaluation of thyroid transcription factor-1 (TTF1) and homeobox B5 (HOXB5) as Hirschsprung disease (HSCR) susceptibility loci." Thesis, The University of Hong Kong (Pokfulam, Hong Kong), 2006. http://hub.hku.hk/bib/B38679851.

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42

Zhang, Mei, and 章梅. "A Sox10-GFP mutant mouse model for the study of abnormal enteric nervous system development in Hirschsprung disease." Thesis, The University of Hong Kong (Pokfulam, Hong Kong), 2010. http://hub.hku.hk/bib/B45900504.

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Martins, Elaine Cristina Soares [UNIFESP]. "Avaliação clínica, manométrica e profilométrica dos pacientes portadores de megacolo congênito submetidos à cirurgia de abaixamento de colo pelas técnicas de Duhamel modificado ou Retossigmoidectomia Transanal." Universidade Federal de São Paulo (UNIFESP), 2007. http://repositorio.unifesp.br/handle/11600/9004.

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Made available in DSpace on 2015-07-22T20:49:29Z (GMT). No. of bitstreams: 0 Previous issue date: 2007-09-26<br>Objetivo: Variações técnicas têm sido propostas para o tratamento cirúrgico definitivo da doença de Hirschsprung ou megacolo congênito (MC). O objetivo deste trabalho é avaliar as diferenças nos resultados cirúrgicos obtidos através da manometria anorretal e da profilometria, bem como verificar a sua correlação com parâmetros clínicos de padrão de evacuação de pacientes submetidos a uma das duas técnicas para tratamento cirúrgico do MC: 1. colectomia do segmento aganglionar e ciru

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Gilbert, Maria Jose. "Experiências de mães no cuidado de filhos com Doenças de Hirschsprung: subsídios para o cuidado de enfermagem." Universidade de São Paulo, 2009. http://www.teses.usp.br/teses/disponiveis/22/22133/tde-04032009-145520/.

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O objetivo deste estudo foi conhecer as experiências de mães de crianças e adolescentes com Doenças de Hirschsprung, de forma a identificar, nos seus cotidianos, situações que necessitam de intervenções de enfermagem, visando melhor qualidade de vida para essas pessoas e suas famílias. Além disso, buscou caracterizar esses pacientes, cadastrados, no período de 1982 a 2007, no Serviço de Gastroenterologia Pediátrica de um Hospital Escola, em um município no interior de São Paulo, segundo variáveis sócio-demográficas e terapêutica. Para atender aos dois primeiros objetivos, procedeuse à análise

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Pasini, Andrea. "Bases biologiques des néoplasies endocriniennes multiples de type 2 et de la maladie de Hirschsprung : étude des conséquences fonctionnelles des mutations du gène RET." Lyon 1, 1997. http://www.theses.fr/1997LYO1T249.

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Stanchina, Laure. "Fonction et interaction entre plusieurs gènes impliqués dans les syndromes de Waardenburg et de Mowat-Wilson." Thesis, Paris Est, 2009. http://www.theses.fr/2009PEST0057.

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Les cellules de la crête neurale se caractérisent par leur capacité de migration dansl’embryon et la variété des types cellulaires qu’elles sont capables de générer (mélanocytes,système nerveux entérique (SNE) et périphérique). Chez l’homme, plusieurs maladiescongénitales affectant des organes et tissus divers, ont pour origine une anomalie demigration, prolifération, survie ou différenciation de ces cellules. Au laboratoire, nousétudions deux d’entre elles, le syndrome de Waardenburg-Hirschsprung (WS4- anomalie depigmentation, surdité et maladie de Hirschsprung (HSCR : anomalie entérique)) et

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Bidaud, Christelle. "Le récepteur tyrosine kinase RET : dérégulation des mécanismes de signalisation dans la maladie de Hirschsprung et étude des voies de transduction activées par le ligand GDNF." Lyon 1, 2000. http://www.theses.fr/2000LYO1T218.

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Goldoni, Alberto <1975&gt. "Identificazione di nuovi geni associati al fenotipo di Hirschsprung in C. Elegans e loro controparte umana." Doctoral thesis, Alma Mater Studiorum - Università di Bologna, 2007. http://amsdottorato.unibo.it/42/1/SCHEMA_TESI_FINALE.pdf.

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Goldoni, Alberto <1975&gt. "Identificazione di nuovi geni associati al fenotipo di Hirschsprung in C. Elegans e loro controparte umana." Doctoral thesis, Alma Mater Studiorum - Università di Bologna, 2007. http://amsdottorato.unibo.it/42/.

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Gerardi, Filho Vicente Antonio [UNIFESP]. "Estudo comparativo do efeito do cloreto de benzalcôneo, em diferentes solventes, aplicados sobre o cólon de ratos." Universidade Federal de São Paulo (UNIFESP), 2003. http://repositorio.unifesp.br/handle/11600/18455.

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Made available in DSpace on 2015-12-06T23:02:46Z (GMT). No. of bitstreams: 0 Previous issue date: 2003<br>Objetivo: Estudar o efeito do cloreto de benzalconeo a 0,1 por cento diluido em diferentes solventes, aplicado na superficie serosa do colon sigmoide de ratos. Metodo: Utilizou-se 225 ratos machos, Wistar, com 90 dias de vida, subdivididos em 5 grupos de 45: grupo I -aplicacao de cloreto de benzalconeo a 0,1 por cento diluido em alcool 70 por cento na superficie serosa do colon sigmoide, por 30 minutos, por meio de esponja com extensao de 1,Ocm; grupo II - aplicacao de alcool a 70 por c

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