Diss. (sammanfattning) Stockholm : Karol. inst. / Härtill 5 uppsatser.

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Tam Wing-yip. / Thesis (M.Phil.)--Chinese University of Hong Kong, 2003. / Includes bibliographical references (leaves 91-113). / Abstracts in English and Chinese. / Abstract --- p.i / Chinese Abstract --- p.iv / Acknowledgements --- p.vi / Table of Contents --- p.vii / Chapter Chapter 1 --- General Introduction --- p.1 / Chapter 1.1 --- Hirschsprung's disease --- p.1 / Chapter 1.2 --- Neural crest cells and enteric nervous system --- p.3 / Chapter 1.3 --- Genetics of Hirschsprun´gةs disease --- p.10 / Chapter 1.3.1 --- RET/GDNF/NTN signaling pathway --- p.10 / Chapter 1.3.2 --- EDNRB/EDN3/ECE-1 signaling pathway --- p.13 / Chapter 1.3.3 --- Dominant megacolon and Sox10 --- p.15 / Chapter 1.3.4 --- Other genes involved in intestinal aganglionosis --- p.16 / Chapter 1.4 --- Objectives of the present study --- p.19 / Chapter Chapter 2 --- Enteric Neural Crest Cells Migration in Dominant Megacolon Mouse Embryos --- p.21 / Chapter 2.1 --- Introduction --- p.21 / Chapter 2.2 --- Materials and Methods --- p.26 / Chapter 2.2.1 --- Animal --- p.26 / Chapter 2.2.2 --- Preparation of rat serum --- p.26 / Chapter 2.2.3 --- Isolation of embryos from pregnant mice --- p.27 / Chapter 2.2.4 --- Preparation of wheat germ agglutinin-gold (WGA-Au) --- p.28 / Chapter 2.2.5 --- Microinjection of WGA-Au conjugate --- p.28 / Chapter 2.2.6 --- Whole embryo culture --- p.29 / Chapter 2.2.7 --- Examination of cultured embryos --- p.30 / Chapter 2.2.8 --- Histological preparation of WGA-Au injected embryos --- p.30 / Chapter 2.2.9 --- Silver enhancement staining and histological examination of the sections --- p.31 / Chapter 2.2.10 --- Genotyping by polymerase chain reaction --- p.32 / Chapter 2.2.11 --- TUNEL assays --- p.33 / Chapter 2.3 --- Results --- p.35 / Chapter 2.3.1 --- In vivo development of Dominant megacolon mouse embryos of different genotypes --- p.35 / Chapter 2.3.2 --- In vitro development of embryos in control and experimental groups --- p.35 / Chapter 2.3.3 --- Migration of vagal neural crest cells in Dom embryos --- p.36 / Chapter 2.3.4 --- Apoptotic cells detection at the vagal region by TUNEL assay --- p.37 / Chapter 2.3.5 --- Migration of sacral neural crest cells in Dom embryos --- p.37 / Chapter 2.3.6 --- Apoptotic cells detection at the sacral region by TUNEL assay --- p.38 / Figures and Tables / Chapter 2.4 --- Discussion --- p.40 / Chapter 2.4.1 --- In vitro culture system supporting the normal development of mouse embryos --- p.40 / Chapter 2.4.2 --- WGA-Au as a cell marker for tracing the NCCs migration --- p.41 / Chapter 2.4.3 --- Vagal neural crest cells migration in Dom mouse embryos --- p.42 / Chapter 2.4.4 --- Apoptotic cell death does not contribute to the total aganglionosis in Dom homozygous embryos --- p.43 / Chapter 2.4.5 --- Sacral neural crest cells migration in Dom mouse embryos --- p.45 / Chapter 2.4.6 --- NCCs migration in zebrafish colourless mutant --- p.47 / Chapter 2.4.7 --- Limitation of the method used in this study --- p.49 / Chapter 2.4.8 --- Conclusions --- p.49 / Appendices / Chapter Chapter 3 --- Migration of Enteric Neural Crest-derived Cells in the Developing Gut of Dominant Megacolon Mouse Embryos --- p.51 / Chapter 3.1 --- Introduction --- p.51 / Chapter 3.2 --- Materials and Methods --- p.55 / Chapter 3.2.1 --- Isolation of the gut from Dom mouse embryos --- p.55 / Chapter 3.2.2 --- Whole mount immunohistochemistry --- p.55 / Chapter 3.3 --- Results --- p.57 / Chapter 3.3.1 --- PGP9.5 immunoreactivity in the 12.5 d.p.c. Dom embryos --- p.57 / Chapter 3.3.2 --- TH immunoreactivity in the 12.5 d.p.c. Dom embryos --- p.58 / Chapter 3.3.3 --- PGP9.5 immunoreactivity in the 14.5 d.p.c. Dom embryos --- p.59 / Figures and Tables / Chapter 3.4 --- Discussion --- p.61 / Chapter 3.4.1 --- The use of PGP9.5 and TH antibodies as markers for studying the migration of enteric neural crest-derived cells --- p.61 / Chapter 3.4.2 --- Incomplete migration of neural crest-derived cells within the gut of Dom heterozygous embryos --- p.62 / Chapter 3.4.3 --- Failure of sacral NCCs to invade the hindgut of Dom heterozygous embryos --- p.63 / Chapter 3.4.4 --- PGP9.5 and TH positive signals in the gut of Dom homozygous embryos --- p.64 / Chapter 3.4.5 --- Early differentiation of neural crest-derived cells into neurons due to haploinsufficiency of Sox10 --- p.65 / Chapter 3.4.6 --- Conclusions --- p.66 / Chapter Chapter 4 --- Localization of Interstitial Cells of Cajal in the Gut of Dominant Megacolon Mice --- p.67 / Chapter 4.1 --- Introduction --- p.67 / Chapter 4.2. --- Materials and Methods --- p.72 / Chapter 4.2.1 --- Isolation of the gut from mouse embryos and adult mice --- p.72 / Chapter 4.2.2 --- Cryosection and immunohistochemistry --- p.73 / Chapter 4.2.3 --- Whole-mount immunohistochemistry --- p.73 / Chapter 4.2.4 --- Total RNA extraction --- p.74 / Chapter 4.2.5 --- Reverse transcription for the first strand cDNA synthesis --- p.75 / Chapter 4.2.4 --- Reverse transcription-Polymerase chain reaction (RT-PCR) --- p.76 / Chapter 4.3 --- Results --- p.77 / Chapter 4.3.1 --- PGP9.5 and c-kit immunoreactivity in the Dom wild type colon --- p.77 / Chapter 4.3.2 --- c-kit immunoreactivity in the Dom heterozygous adult colon --- p.78 / Chapter 4.3.3 --- c-kit and SCF expression during gut development --- p.78 / Figures and Tables / Chapter 4.4 --- Discussion --- p.80 / Chapter 4.4.1 --- The importance in studying the development of ICCs in aganglionic gut --- p.80 / Chapter 4.4.2 --- ICCs development in Dominant megacolon mice --- p.81 / Chapter 4.4.3 --- The relationship between enteric neurons and ICCs development --- p.83 / Chapter 4.4.4 --- Advantages of using confocal microscopy and whole- mount preparations to study the ICCs development --- p.85 / Chapter 4.4.5 --- Conclusions --- p.86 / Chapter Chapter 5 --- General Discussion and Conclusions --- p.87 / References --- p.91

Next, the influences on the migration of neural crest cell from the microenvironment of the hindgut through which the neural crest cells migrate were studied. An organ culture system was established to recombine different gut segments together at E11.5 for gut culture in order to trace the migration of neural crest cells from the midgut of the +/+ or Dom/+ embryo to the hindgut of the same or different genotypes. At E11.5, the midgut of both +/+ and Dom/+ embryos had already been fully colonized by neural crest cells, thus an explanted midgut segment (donor midgut) could serve as the source of the neural crest cells, while the caudal half of the hindgut (recipient hindgut) acted as the recipient of the neural crest cells from the donor midgut segment because at this stage, the caudal half of the hindgut was completely devoid of neural crest cells. After three days of culture, when a segment of midgut from the +/+ embryo was used as the donor of migratory vagal neural crest-derived cells and combined with an aneural segment of the hindgut (segment without neural crest-derived cells) from Dom/+ or Dom/Dom embryos, neural crest-derived cells from the midgut segment successfully crossed the combination junction and migrated normally along the hindgut segment to reach its caudal end within a normal developmental time frame. However, the migration of neural crest-derived donor cells from the Dom/+ midgut segment was abnormal in the recipient hindgut with a genotype of +/+, Dom/+ or Dom/Dom as evidenced by the retarded rostrocaudal progression of the vagal neural crest-derived cells and the reduced number of migratory cells in the recipient hindgut segment. These results thus indicate that the migration of the vagal neural crest-derived cells is minimally influenced by the migratory environment of the hindgut of the Dom embryo, and that the neural crest cells themselves may be defective in migration leading to the retarded migration in the hindgut of Dom mouse embryos. / The vagal neural crest cells originating from the region of the neural tube adjacent to somites 1 to 7 migrate along defined pathways to the gastrointestinal tract and then colonize the gut to give rise to the majority of neurons and glia of the enteric nervous system. Mutation of Sox10 in the Dominant megacolon (Dom) mouse, which is an animal model of Hirschsprung's disease, leads to aganglionosis (absence of ganglia) in varying lengths of the hindgut. To investigate the underlying cellular mechanism of aganglionosis, the migration of vagal neural crest cells from the neural tube to the gut (pre-enteric migration) in Dom mouse embryos at E8.5 was firstly traced with extrinsic cell markers, such as wheat germ agglutinin gold conjugates (WGA-Au) or fluorescent dye DiI. After the vagal neural crest cells entered the gut at E9.5, their migration was then followed by the examination of the expression of specific markers for undifferentiated neural crest cells with immunohistochemical staining. It was found that, although vagal neural crest cells in embryos of the three genotypes examined migrated along similar pre-enteric pathways at a similar migratory rate, the numbers of neural crest cells in embryos heterozygous (Dom/+) and homozygous (Dom/Dom) for the Sox10 mutation were significantly reduced when compared with the number of neural crest cells in wild-type (+/+) embryos. After vagal neural crest had entered the gut and from E10.5 onwards, no neural crest-derived cells were found in the gut of Dom/Dom embryos, and the migration of neural crest cells along the Dom/+ gut was significantly retarded from E12.5 onwards as compared with the migration in stage-matched +/+ embryos. / To further trace the cause of defective migration of neural crest cells in the Dom embryo, the proliferation and survival of neural crest cells were investigated with BrdU labeling and TUNEL assay. It was found that, although there was no obvious difference in the proliferating ability of vagal neural crest cells in embryos of all the three Dom genotypes studied during the pre-enteric migration and the migration in the gut, more apoptotic neural crest cells were found along the pre-enteric migratory pathway of Dom/Dom embryos than Dom/+ and +/+ embryos. Therefore, the decreased surviving ability, but possibly not the reduced proliferating ability, of neural crest cells during their pre-enteric migration may be partly responsible for aganglionosis in the hindgut of the Dom mouse. / Wang Liang. / "June 2006." / Adviser: W. Y. Chan. / Source: Dissertation Abstracts International, Volume: 68-03, Section: B, page: 1380. / Thesis (Ph.D.)--Chinese University of Hong Kong, 2006. / Includes bibliographical references (p. 287-307). / Electronic reproduction. Hong Kong : Chinese University of Hong Kong, [2012] System requirements: Adobe Acrobat Reader. Available via World Wide Web. / Electronic reproduction. [Ann Arbor, MI] : ProQuest Information and Learning, [200-] System requirements: Adobe Acrobat Reader. Available via World Wide Web. / Abstracts in English and Chinese. / School code: 1307.

Orientador: Pedro Luiz Toledo de Arruda Lourenção / 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 na literatura e desenvolvemos uma metanálise de proporções para definer a taxa de resultados conclusivos e as complicações relacionadas aos diferentes tipos de biópsia retal no diagnóstico de disganglionoses intestinais. Métodos: A partir de ampla busca na literatura em múltiplas bases de dados, foi realizada uma revisão sistemática e metanálise de proporção das séries de casos que envolviam biópsias retais em pesquisa de disganglionoses intestinais em crianças. Foram incluídas series de casos que envolvessem mais de 5 biópsias em pacientes menores de 18 anos de idade com suspeita de disganglionose intestinal, que descrevesse ao menos um tipo de biópsia retal. Os estudos deviam especificar a taxa de resultados conclusivos e a taxa de complicações das técnicas de biópsias. A análise de proporção de série de casos foi realizada e os resultados apresentados em gráficos do tipo forest plot. Resultados: Foram selecionados 151 estudos pelos critérios de ... (Resumo completo, clicar acesso eletrônico abaixo) / Abstract: Introduction: Intestinal constipation is a debilitating condition that affects up to 27% of the population, representing an important public health problem and corresponding to 3% of all pediatric consultations. There are many different congenital and acquired conditions, but Hirschsprung’s disease (HD) is the main representative entity of congenital disease and is involved in 90% of all cases. The diagnosis of intestinal dysganglionosis depends on the histopathological analysis of rectal biopsies. Here we conducted an updated systematic review of all case series studies available in the literature and performed a pooled analysis of proportions to assess the rate of conclusive results and possible complications of different rectal biopsy techniques in the diagnosis of intestinal dysganglionosis. Methods: A broad literature search using multiple online databases. A systematic literature review and proportional meta-analysis of the available case series studies of rectal biopsies in the diagnosis of intestinal dysganglionosis in children were performed. We included case series with more than 5 rectal biopsies in children under 18 years of age suspected of intestinal dysganglionosis, that described at least one type of rectal biopsy. The studies should have specified the rate of conclusive results and the rate of complications of the biopsy procedures. Proportional meta-analysis of case series studies was performed and forest plot charts were created to summarize the data. Resul... (Complete abstract click electronic access below) / Doutor

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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 qualitativa dos dados, utilizando, como instrumento de coleta, entrevistas semi-estruturadas com mães dessas crianças e adolescentes. Os dados para caracterização dos referidos pacientes foram coletados de seus prontuários e apresentados em termos de freqüência. Aqueles gerados a partir das entrevistas foram agrupados ao redor de três temas: conhecendo a doença; experiência do cuidado e redes de apoio. O envolvimento dos pais no cuidado ao filho em situações de doença tem sido um grande desafio para os profissionais de saúde e, assim, para obter sucesso nessa dimensão do cuidar, é necessário haver habilidades nas esferas técnica e interpessoal de ambos os lados pais e profissionais de saúde. No que se refere à caracterização, 67,3% eram do sexo masculino, 43,6% ocupavam a posição de primeiro filho, 76,3% tiveram o diagnóstico no primeiro ano de vida, sendo 20% no primeiro mês e, de um total de 15 óbitos, 11 decorreram de complicações da doença. Os resultados do estudo possibilitaram identificar aspectos que necessitam de intervenção por parte dos membros da equipe de saúde, particularmente da enfermagem, objetivando melhor qualidade de vida para crianças e adolescentes com Doença de Hirschsprung e suas famílias. / This study aimed to know the experiences of mothers of children with Hirschsprung Disease; to identify, in their daily life, situations showing the need of nursing interventions in the search for a better quality of life for these children and their families, and to characterize children and adolescents with Hirschsprung Disease registered at the Pediatric Gastroenterology Service, between 1982 and 2007, according to socio-demographic and therapeutic variables. To accomplish the first two objectives, qualitative data analysis was carried out; semi-structured interviews with 13 mothers of children and adolescents with Hirschsprung Disease, attended at a school-hospital in the interior of the state of São Paulo, were used for data collection. Data for characterization of children and adolescents were collected from their medical records and presented in terms of frequency. Data taken from the interviews were grouped in three main themes: knowing the disease; care experience and support network. Involvement of parents in care to children in situations of disease has been a big challenge for health professionals. To have success in this intervention, technical and interpersonal ability from both parents and health professionals is needed. In the characterization of children and adolescents with Hirschsprung Disease, 67,3% were male; 43,6% were parents first child; 76,3% were diagnosed in the first year of life, 20% in the first month; 11 of the 15 deaths were due to complications of the disease. Results enabled the identification of aspects that need intervention by the health team, specially nursing, aiming a better quality of life for children and adolescents with Hirschsprung Disease and their families.

For the purpose of developing an effective therapeutic strategy for HSCR, the enteric neural crest stem cells were investigated firstly which were isolated from the E14.5 mouse embryonic gut, cultured as neurospheres and characterized by multiple immunofluorescence and reverse transcription-PCR, population doubling time, frequency of forming secondary neurospheres and limited dilution assay. In the differentiation culture medium, several types of cells were induced to form from the neurospheres derived from single cells. Hence the putative enteric neural crest stern cells, which were isolated from the embryonic mouse gut tube and cultured as neurospheres for many passages ex vivo with the demonstrated capacity of proliferation, self-renewal and differentiation, showed properties of stem cells. / Hirschsprung's disease (HSCR) is caused by the absence of the enteric neural crest-derived neurons at the distal region of the gut. Cell-based therapy using stem cells or progenitors gives the potential to supplement these missing enteric neurons in the gut. Enteric neural crest stem cells isolated from the human or rodent gut can give rise to neurons and glia after they are transplanted into the recipient guts of the mouse or rat. However, numbers of issues are unresolved about the basic biology of the enteric nervous system, the characteristics of the stem cells isolated from the enteric nervous system and the biological significance of these cells in prenatal and postnatal periods. In this study, the characteristics and therapeutic potential on HSCR of the enteric neural crest stem cells were explored. / In addition to the above, a recombination organotypic gut culture ex vivo showed that the colonization of enteric neural crest-derived cells in the recipient gut was influenced not only by the genotypes of enteric neural crest-derived cells themselves but also the microenvironment of the gut through which enteric neural crest-derived cells migrated. For instance, the developmental stage of the recipient gut and also the presence of endogenous enteric neural crest-derived cells along the migratory pathway of neural crest-derived cells both affected the extent of the migration and colonization of exogenous enteric neural crest-derived cells and stem cells. The gradual maturation and differentiation of the neighboring structures, such as the smooth muscle layer, during the time period of the enteric neural crest cells migration, might also suggest that these neighboring tissues may have a role in regulating the neural crest-derived cells migration. / In conclusion, enteric neural crest stem cells isolated from the embryonic mouse gut tube showed properties of stem cells, and had the potential to compensate missing enteric neural crest-derived cells both ex vivo and in vivo. However, the colonization of enteric neural crest-derived cells in the developing gut was affected cell-autonomously and also by the microenvironment of the gut and the presence of existing enteric neural crest-derived cells. / Their potential applications in the transplantation experiments were shown by transplantation of the neurospheres isolated to the gut tube maintained in an organotypic culture or to the descending colon of neonates at postnatal day 7. The development of the enteric neural crest stern cells from the neurospheres was found to be compatible to endogenous enteric neural crest-derived cells in the recipient gut as evidenced by the formation of interconnected cellular networks of donor stem cells and endogenous neural crest-derived cells. The enteric neural crest stem cells also possess the potential to compensate the loss of enteric neural crest-derived cells ex vivo and in vivo in recipient prenatal and postnatal guts. / Bao, Lihua. / Adviser: Wood Yee Chan. / Source: Dissertation Abstracts International, Volume: 73-01, Section: B, page: . / Thesis (Ph.D.)--Chinese University of Hong Kong, 2010. / Includes bibliographical references (leaves 208-228). / Electronic reproduction. Hong Kong : Chinese University of Hong Kong, [2012] System requirements: Adobe Acrobat Reader. Available via World Wide Web. / Electronic reproduction. [Ann Arbor, MI] : ProQuest Information and Learning, [201-] System requirements: Adobe Acrobat Reader. Available via World Wide Web. / Abstract also in Chinese.

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 qualitativa dos dados, utilizando, como instrumento de coleta, entrevistas semi-estruturadas com mães dessas crianças e adolescentes. Os dados para caracterização dos referidos pacientes foram coletados de seus prontuários e apresentados em termos de freqüência. Aqueles gerados a partir das entrevistas foram agrupados ao redor de três temas: conhecendo a doença; experiência do cuidado e redes de apoio. O envolvimento dos pais no cuidado ao filho em situações de doença tem sido um grande desafio para os profissionais de saúde e, assim, para obter sucesso nessa dimensão do cuidar, é necessário haver habilidades nas esferas técnica e interpessoal de ambos os lados pais e profissionais de saúde. No que se refere à caracterização, 67,3% eram do sexo masculino, 43,6% ocupavam a posição de primeiro filho, 76,3% tiveram o diagnóstico no primeiro ano de vida, sendo 20% no primeiro mês e, de um total de 15 óbitos, 11 decorreram de complicações da doença. Os resultados do estudo possibilitaram identificar aspectos que necessitam de intervenção por parte dos membros da equipe de saúde, particularmente da enfermagem, objetivando melhor qualidade de vida para crianças e adolescentes com Doença de Hirschsprung e suas famílias. / This study aimed to know the experiences of mothers of children with Hirschsprung Disease; to identify, in their daily life, situations showing the need of nursing interventions in the search for a better quality of life for these children and their families, and to characterize children and adolescents with Hirschsprung Disease registered at the Pediatric Gastroenterology Service, between 1982 and 2007, according to socio-demographic and therapeutic variables. To accomplish the first two objectives, qualitative data analysis was carried out; semi-structured interviews with 13 mothers of children and adolescents with Hirschsprung Disease, attended at a school-hospital in the interior of the state of São Paulo, were used for data collection. Data for characterization of children and adolescents were collected from their medical records and presented in terms of frequency. Data taken from the interviews were grouped in three main themes: knowing the disease; care experience and support network. Involvement of parents in care to children in situations of disease has been a big challenge for health professionals. To have success in this intervention, technical and interpersonal ability from both parents and health professionals is needed. In the characterization of children and adolescents with Hirschsprung Disease, 67,3% were male; 43,6% were parents first child; 76,3% were diagnosed in the first year of life, 20% in the first month; 11 of the 15 deaths were due to complications of the disease. Results enabled the identification of aspects that need intervention by the health team, specially nursing, aiming a better quality of life for children and adolescents with Hirschsprung Disease and their families.

Hou, Yonghui. / Thesis (Ph.D.)--Chinese University of Hong Kong, 2013. / Includes bibliographical references (leaves 174-190). / Electronic reproduction. Hong Kong : Chinese University of Hong Kong, [2012] System requirements: Adobe Acrobat Reader. Available via World Wide Web. / Abstracts also in Chinese.