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Specifická ošetřovatelská péče u dětí s rozštěpovými vadami obličeje / Specific nursing care of children with facial cleft defectsKAŇKOVÁ, Jana January 2011 (has links)
The thesis deals with specific nursing care for children with facial cleft anomalies. Facial clefts belong to frequent congenital anomalies with incidence of 1 : 500 in lively born children, which is why adequate care has to be provided to these children to honour the founder of Czech plastic surgery Prof. František Burian. Two goals were set in this thesis. The first goal was to elaborate a proposal of a nursing procedure for children with facial cleft. The other goal was to elaborate an educational programme for nurses and parents of children with facial cleft anomalies. Both the goals have been achieved. Two hypotheses were set in this thesis: Hypothesis No. 1 ?Nurses working at a specialized department are sufficiently informed on the care about children with facial cleft anomalies?. Hypothesis No. 2 ?Nurses working at maternity wards are sufficiently informed on the care about children with facial cleft anomalies?. Two research questions were also set before the research itself: Research question No. 1: How do nurses provide specific nursing care to children with facial cleft anomalies? Research question No. 2: What principles do nurses consider important for the care about children with facial cleft anomalies? The questionnaire, interview and observation methods were used for data collection. The questionnaire was based on information obtained from literature and was designed for ward nurses. The interview was prepared upon own experience from observation of nurses in the Královské Vinohrady University Hospital in the Centre for Cleft Anomalies Treatment and upon information from literature. 60 questionnaires were distributed in the České Budějovice Hospital in March 2011. There were 47 completed questionnaires suitable for processing. 11 questionnaires were distributed in the Královské Vinohrady University Hospital in March 2011. 9 completed questionnaires were used for processing. The research sample for the interview consisted of 11 nurses working in the Královské Vinohrady University Hospital, the Centre for Cleft Anomalies Treatment, the Paediatric ICU and the Paediatric ward. The results show that the nurses working at maternity wards are sufficiently informed. The results also show how nurses provide specific nursing care and what principles they consider important. We have elaborated educational programmes for parents and nurses within the set goals and upon the interviews with nurses, which may help improve the nursing care and particularly teach parents to care about their children with facial cleft properly.
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Contribuições das atividades expressivas e recreativas durante a hospitalização da pessoa com fissura labiopalatina / Contributions of expression and recreation activities during hospitalization of individuals with cleft lip and palateMarcia Cristina Almendros Fernandes Moraes 07 December 2012 (has links)
Objetivo: Investigar junto aos adolescentes e jovens adultos com fissura labiopalatina (FLP) transforame que foram submetidos a cirurgias e internações no HRAC/USP e participaram de atividades expressivas e recreativas durante os períodos de hospitalização, a contribuição dessas atividades na sua vida familiar, social, afetiva, escolar e ocupacional. Material e Método: A amostra foi composta por 53 pessoas em tratamento, com FLP transforame incisiva unilateral ou bilateral, sem outros comprometimentos, com idades entre 14 e 23 anos, residentes na Região Sudeste do Brasil e submetidos a três ou mais cirurgias no Hospital, sendo a última no período de 2005 a 2009. Foi aplicado um roteiro de entrevista especialmente elaborado pela pesquisadora, contemplando dados de identificação levantados nos prontuários clínicos, perguntas abertas e outras oferecendo alternativas, abordando as atividades expressivas e recreativas oferecidas aos pacientes durante suas hospitalizações. As entrevistas foram transcritas e as respostas tabuladas e submetidas à análise de conteúdo, sendo os dados analisados quantitativa e qualitativamente. Resultados: Os entrevistados eram em sua maioria homens (69,81%), apresentavam fissura transforame incisiva unilateral (66,04%), tinham idades de 20 a 23 anos (45,28%), procediam do estado de São Paulo (73,58%), pertenciam ao estrato socioeconômico baixo superior (73,58%), moravam com a família (86,79%), tinham Ensino Médio incompleto ou completo (67, 93%), 62,26% continuavam estudando e 64,15% exerciam alguma atividade profissional. A maioria (73,58%) referiu praticar esportes e apenas um entrevistado informou não ter religião e não realizar atividades de lazer. Quase todos os entrevistados (98,11%) iniciaram o tratamento no HRAC/USP antes dos 12 meses de idade e foram submetidos a 10 cirurgias em média e, 79,25% ficaram internados cinco vezes ou mais. Jogos e dinâmicas de grupo foram as atividades mais lembradas por 69,81% e 49,06% dos entrevistados e, também, as mais marcantes, para 22,64% e 20,75%. Quanto à convivência, os entrevistados em geral consideraram ótima ou boa: familiar (69,81%, 18,87%); com colegas da escola (61,76%, 29,41%) e com os professores (44,12%, 44,12%). Os que trabalhavam também consideraram a convivência ótima ou boa: com colegas de trabalho (52,94%, 41,18%) e com os superiores (44,12%, 47,06%). Também avaliaram como ótima ou boa: a convivência com colegas e conhecidos (56,60%, 35,85%), a vida profissional (41,18%, 50,00%), a vida social (45,28%, 43,40%), a convivência com o sexo oposto (45,28%, 35,85%) e, finalmente, o estágio de reabilitação (71,70%, 24,53%). A maioria dos entrevistados (94,33%) considerou que as atividades contribuíram em suas vidas, 60,38% relacionando ao crescimento pessoal e 32,08% ao relacionamento interpessoal. De acordo com as respostas as contribuições ocorreram principalmente no âmbito social (66,04%), auxiliando no enfrentamento do preconceito, melhora da autoimagem e da autoestima. Conclusão: Os resultados permitiram verificar que as atividades expressivas e recreativas desenvolvidas durante as internações no HRAC/USP contribuíram para a vida dos entrevistados, favorecendo o crescimento pessoal e os relacionamentos interpessoais. / Objective: To investigate the contribution of expression and recreation activities during hospitalization periods for the family, social, affective, school and occupational life among adolescents and young adults with complete cleft lip and palate (CLP) submitted to surgeries and hospitalizations at HRAC/USP. Material and Method: The sample was composed of 53 untreated individuals with complete unilateral or bilateral cleft lip and palate, without other disorders, aged 14 to 23 years, living in the Southeast region of Brazil and submitted to three or more surgeries at the Hospital, being the latter in the period from 2005 to 2009. An interview was especially designed and applied by the examiner, addressing demographic data obtained from the records, open and multiple choice questions, addressing the expression and recreation activities offered to the patients during hospitalization. The interviews were transcribed and the responses were plotted and analyzed as to their content, with quantitative and qualitative analysis of data. Results: Most interviewees were males (69.81%), with complete unilateral cleft lip and palate (66.04%), aged 20 to 23 years (45.28%), from the State of São Paulo (73.58%), of upper low socioeconomic level (73.58%), lived with their families (86,79%), had incomplete or complete high school (67.93%), 62.26% were still studying and 64.15% had some professional activity. Most individuals (73.58%) referred sports practice and only one individual stated to have no religion and no leisure activities. Nearly all interviewees (98.11%) initiated the treatment at HRAC/USP before the age of 12 months, were submitted to 10 surgeries in the average, and 79.25% were hospitalized five times or more. Games and group dynamics were the activities most remembered by 69.81% and 49.06% of interviewees, and also the most outstanding for 22.64% and 20.75%. Concerning the friendship, the interviewees in general considered as excellent or good: familiar (69.81%, 18.87%); with school mates (61.76%, 29.41%) and with professors (44.12%, 44.12%). Those who worked also considered the friendship excellent or good: with work colleagues (52.94%, 41.18%) and with bosses (44.12%, 47.06%). They also rated as excellent or good: the friendship with colleagues and acquaintances (56.60%, 35.85%), professional life (41.18%, 50.00%), social life (45.28%, 43.40%), friendships with the opposite gender (45.28%, 35.85%) and finally the rehabilitation stage (71.70%, 24.53%). Most interviewees (94.33%) considered that the activities contributed to their lives, 60.38% for personal growth and 32.08% for interpersonal relationships. According to the responses, the contributions occurred mainly in the social scope (66.04%), aiding the coping of prejudice, enhancing the self-image and self-esteem. Conclusion: The results evidenced that expression and recreational activities developed during hospitalizations at HRAC/USP contributed to the lives of interviewees, favoring their personal growth and interpersonal relationships.
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FENTES LABIO-PALATINES : Approche étiologique génétique. Place des gènes de l’angiogenèse. Développement d’un modèle d’étude in vivo chez l’enfant. / Cleft lip-palate : Genetic-etiologic approach and role of gene expression in angiogenesis. Development of an vivo study model in children.François-Fiquet, Caroline 24 May 2013 (has links)
Les fentes labio-palatines (FLP) sont la malformation cranio-faciale congénitale la plus fréquente. D'origine multifactorielle, elles sont la conséquence d'un défaut de fusion des bourgeons faciaux.Objectif et MéthodologieL'objectif de ce travail a été d'étudier la place des gènes de l'angiogenèse dans le cadre de la piste étiologique des FL/P. La méthodologie de ce travail comportait 3 étapes :- Une analyse systématique et exhaustive des gènes impliqués dans les FL/P comprenant les gènes identifiés mais aussi les gènes potentiellement impliqués.- Une analyse rétrospective des explorations génétiques des FL/P opérées au CHU de Reims entre 2003 et 2009.- La mise en place d'une analyse prospective (2009-2012, AOL) :- Génomique constitutionnelle par CGH Array- In situ au niveau des berges des fentes issues de déchets opératoires des chirurgies primaires des FL/P comprenant :Le développement d'un protocole de culture cellulaire de fibroblastesUne analyse anatomopathologiqueEt surtout le développement d'un modèle d'étude in vivo chez l'enfant d'analyse d'expression des gènes de l'angiogenèse.RésultatsL'analyse systématique des gènes impliqués dans les FL/P a mis en évidence 95 gènes dont plus d'une dizaine sont connus comme liés aux mécanismes d'angiogenèse (facteurs de croissance et protéases). Ces derniers sont en interaction entre eux mais aussi avec 18 autres gènes impliqués eux aussi dans les FL/P. Ainsi au total 1/3 des gènes d'intérêt sont soit des gènes de l'angiogenèse soit en lien avec eux.L'étude rétrospective nous a permis de mettre en exergue certaines formes cliniques originales qui ont été étudiées et publiées sous un angle « étiologique ».L'étude prospective nous a permis, après obtention des consentements, d'inclure 72 patients (30 FLP, 24FL, 18FP) opérés au CHU de Reims entre 2009 et 2012 d'une chirurgie primaire.Nous présentons :- nos résultats anatomopathologiques, et génétiques (CGH Array)- notre protocole de culture cellulaire- nos réflexions, notre cheminement aboutissant à la création du modèle d'étude d'analyse d'expression des gènes de l'angiogenèseDiscussionLa littérature a bien mis en avant une implication des phénomènes angiogéniques dans la constitution des FL/P par le biais des facteurs de croissance (TGFβ, PDGF C et Ra, FGF, TGFA, FGFR1, FGFR2 ; VEGF) et des protéases (MMP/TIMP2). L'ensemble de nos manipulations in situ nous permet aujourd'hui de disposer du matériel nécessaire pour l'étude de l'expression des facteurs impliqués dans l'angiogenèse sur les berges des fentes.Parallèlement, l'étude génomique constitutionnelle en CGH Array a permis de retrouver des variations non-connues comme polymorphiques chez 62% de nos patients. Des études familiales vont compléter notre travail. Elles permettront de savoir si ces CNV sont héritées ou De Novo et ainsi de préciser leur caractère bénin ou pathologique. L'identification chez un de nos patients d'une amplification, même de petite taille, du gène SKI (gène lié à la voie des TGFβ) nous encourage dans la poursuite de nos recherches d'anomalies constitutionnelles des gènes de l'angiogenèse dans les FL/PLa CGH array est une technique qui nous a paru particulièrement utile et fiable en terme de « scanning » et de dépistage.En conclusion, en pratique clinique, la découverte des anomalies préalablement certainement sous estimées par les cliniciens doit nous mener à une nouvelle réflexion sur le conseil génétique et sur l'utilité dans l'avenir d'un dépistage plus systématique. / Cleft lip and palate (CLP) are the most common congenital craniofacial malformation. They have a multifactorial etiology and are the consequence of incomplete fusion of the facial buds.Objective and MethodologyThe objective of this work was to study the role of the genes of angiogenesis in the framework of studying the etiology of CL/P. Our methodological approach included 3 steps:- Systematic and thorough analysis of the genes involved in CL/P including identified genes but also genes that could be potentially involved.- A retrospective analysis of the operated clefts at the University Hospital of Reims between 2003 and 2009.- Implementation of a prospective analysis (2009-2012, AOL):- Constitutional genomic study by CGH Array- In situ with tissue specimens extracted from surgically excised cleft edges including:The development of a protocol for fibroblast cell culturesHistopathological analysisAnd above all the development of an in vivo study model in children for analyzing the expression of genes of angiogenesis.ResultsThe systemic analysis of genes involved in cleft lip palate unveiled 95 genes including about ten that are known to be related to angiogenesis mechanisms (growth factor and proteases). These genes interact between themselves but also with 18 other genes also involved in CL/P. In all, 1/3 of relevant genes are either angiogenesis-related genes or in direct relation with them.The retrospective study permitted to underline the some original clinical forms that were studied and published under an « etiological » angle.The prospective study included 72 patients (30 CLP, 24CL, 18CP), for whom we obtained informed signed consents, operated at the University Hospital of Reims between 2009 and 2012 for primary cleft surgery.We present:- Our histopathological and genetic results (CGH Array)- Our cell culture protocol (submitted for publication)- Our approaches and thought process behind the design of a study model for analyzing expression profiling of angiogenic genesDiscussionThe literature has highlighted the role of angiogenesis in the formation of cleft lip/palate via growth factors (TGFβ, PDGF C and Ra, FGF, TGFA, FGFR1, FGFR2, VEGF) and proteases (MMP/TIMP2). All our manipulations in situ have yielded the necessary material, i.e. edges of resected clefts, to study the expression of factors involved in cleft angiogenesis.In parallel, the constitutional genomic study in CGH Array enabled to uncover abnormalities in 62% of our patients. Family studies will complete our work. They will help to refine if these CNV are inherited or de novo and thus indicate their benign or pathological nature. In one of our patients, the identification of the SKI gene (related to the TGFβ pathway) encourages us to continue our research of genetic abnormalities of angiogenic genes involved in cleft lip/palate. CGH array appeared to be a very useful and reliable method in terms of scanning and screening.In conclusion, in clinical practice, the discovery of abnormalities which were probably underestimated by clinicians before, leads us to rethink the issue of genetic counseling and the relevance of a more systematic screening for these abnormalities in the future.
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