No description available.

No description available.

No description available.

The mammalian palate develops early in embryogenesis by way of a carefully orchestrated series of temporally and spatially regulated signaling events. Molecular signaling pathways that have been proven to be vital to the process of palatogenesis include TGF-βs, BMPs, FGFs, EGF, and Wnts. The absence of connective tissue growth factor (CTGF/CCN2) has been shown previously to cause failure of proper palatogenesis, i.e. cleft palate. However, the details about the phenotype of this model of cleft palate were scarce. Additionally, CCN2 is known to interact with TGF-βs, BMPs, FGFs, EGF, and Wnts, though information on how these pathways were impacted in the developing palate lacking CCN2 were also not available. In Chapters 2 and 3, through our use of gross specimen and histological examination combined with cell and organ culture, we produced the most detailed characterization of the CCN2 knockout (KO) model of cleft palate with identification of negatively affected signaling pathways that lead to the clefting phenotype. Collection and examination of gross and histological sections revealed at 100% penetrance of cleft palate in which development is impaired around the phase of palatal shelf elevation. Organ culture also revealed that when artificially apposed, the CCN2 KO model system also suffers from a fusion deficit. Finally, utilizing cells isolated from the developing palates, we found a reduction in proliferation, adhesion, and spreading with an enhanced migratory ability. Addition of recombinant CCN2 was able to rescue cell spreading but not proliferation. CCN2 as an immobilized substrate did not rescue adhesive ability. Decreased adhesion and spreading in the KO cells are attributed to the inability of the KO cells to activate Rac1 and RhoA. Examination of gene expression differences by mRNA-sequencing and qRT-PCR revealed numerous gene expression alterations between the wild type (WT) and the KO palates, most notably FGF4 and EGFR. Addition of FGF4 or EGF to cell culture was unable to promote increased proliferation in the KO cells while producing a response in the WT cells. Examination of downstream signaling revealed highly amplified and prolonged ERK1/2 signaling in the FGF4 treated palate cells indicating that FGF signaling is significantly altered in the absence of CCN2. Treatment of the cells with EGF produced a response proportional to EGFR expression differences indicating that EGFR signaling is not impacted beyond the receptor protein levels. The link between EGFR protein levels and FGF mediated ERK1/2 activation is a protein called Spry2. We found greatly reduced Spry2 mRNA levels in the KO palates and upon FGF4 stimulation at 24 hours of exposure indicating that in the absence of CCN2, proper inhibition of FGF signaling and EGFR degradation is negatively altered. Collectively, the data demonstrate that CCN2 is vital to palatogenesis by impacting proliferation, shelf elevation, and shelf fusion through increased FGF signaling and reduced EGFR signaling resulting partially from reduced Spry2 activity. / Biomedical Sciences

Surgical closure of cleft palate improves function and esthetics but affects facial growth. The effect depends on age of the patient at the time for surgery. The study aimed to compare early versus late closure of the hard palate and its effect on dental arch relationship at the age of five for patients born with unilateral cleft lip and palate (UCLP). The study included 40 non-syndromic, Caucasian children with UCLP. All patients had their surgeries performed by the regional cleft-team at University Hospital of Umeå, Sweden, according to the protocol for treatment of UCLP. The patients were divided into early closure (operation age: approximately 2 years, n = 20) and late closure (operation age 4 - 8 years, n = 20). Dental arch relationships were analyzed on dental casts (n = 36) or clinical photos (n = 4) taken at the age of five using the modified Huddart and Bodenham (mHB) scoring system. The results showed that there was significant difference (P = 0.035) in mHB total score between early closure (median - 6.69) and late closure (median - 3.63). Children who had an early closure of the hard palate had a statistically significant lower mHB total score, and hence worse dental arch relationship compared to children with a late closure.

No description available.

Thesis (MSocialWork)--Stellenbosch University, 2002. / ENGLISH ABSTRACT: In this study an explorative and a descriptive design has been implemented with the aim of obtaining knowledge, insight, and understanding of the psycho-social implications of a cleft lip and/or cleft palate for the individual child as well as the family. The motivation for this study was a result of the lack of knowledge on the psycho-social adjustments of an individual/child with a cleft lip and/or cleft palate and his/her family. The researcher became conscious of this lack during a full preliminary inquiry and this lack has been confirmed by the Department of Social Work as well as the Department of Maxillo-Facial-and Oral Surgery at Tygerberg Hospital. The aim of this study is therefore to create guidelines concerning social welfare interference in families after the birth of a baby with a cleft lip and/or cleft palate, in order to improve psycho-social functioning. The literature study included occurrence and incidence, embryological development, etiology of cleft lip and/or cleft palate as well as the psycho-social implications for the individual/child and the family. The medical aspects, namely the etiological and embryological development of cleft lip and/or cleft palate only serves as a background for the medical social worker that forms part of the interdisciplinary team of a cleft palate/lip clinic. This research focuses primarily on the psycho-social implications of a cleft lip and/or cleft palate on the individual/child as well on the family. The literature study also included the theoretical perspectives which determine the social worker's task and the system and strength perspective has been focused on. These perspectives have been implemented according to the development-aimed approach. The researcher decided to involve ten pre-school children with congenital deformity, between the ages of one month to six years as well as their mothers, who are from the service area of the Tygerberg Hospital in the research. The study was determined by a combination of qualitative as well as quantitative research methods, namely structured interviews as well as structured questionnaires. The results of this research confirmed the results of the literature study to a great extent, namely that individuals/children with a congenital deformity, as well as their families, are a highrisk group for psycho-social problems. These psycho-social problems indicate relationship problems in the family, cognitive problems for the individual/child as well as social adjustment problems for the individual/child and the family. Therefore the results gave an indication of what the content of intervention programmes for this target group should be. The recommendations focused on three areas, namely general recommendations concerning prenatal clinics where the cleft lip and/or cleft palate should be identified, general recommendations concerning guidelines for the social worker before intervention in the target group starts and recommendations with the aim of creating guidelines for social welfare intervention, in order to limit the psycho-social implications on the individual/child. The recommendations include further research in order to address society's ignorance concerning cleft lip and/or cleft palate. This research should focus on the development of social welfare programmes which, by primary prevention, aim at improved informing the society of this deformity. / AFRIKAANSE OPSOMMING: 'n Verkennende sowel as 'n beskrywende ontwerp is in hierdie studie geïmplementeer ten einde kennis, insig en begrip oor die psigo-sosiale implikasies van 'n gesplete lip en/of verhemelte vir individu/kind sowel as die gesin te verkry. Die motivering vir hierdie studie het na vore gekom weens die leemte rakende kennis oor die psigo-sosiale aanpassings van 'n individu/kind met 'n gesplete lip en/of verhemelte en sy/haar gesin. Die navorser het van hierdie leemte bewus geword tydens 'n volledige voorondersoek en hierdie leemte is deur die Departement Maatskaplike Werk sowel as die Departement Kaak- en Mondchirurgie te Tygerberg Hospitaal bevestig. Die doel van hierdie studie is dus om riglyne daar te stel ten opsigte van maatskaplike intervensie met gesinne ná die geboorte van 'n baba met 'n gesplete lip en/of verhemelte, ten einde psigo-sosiale funksionering te verbeter. Die literatuurstudie het die voorkoms en insidensie, embriologiese ontwikkeling, etiologie van gesplete lip en/of verhemelte sowel as die psigo-sosiale implikasies vir die individu/kind en die gesin ingesluit. Die mediese aspekte, naamlik die etiologiese en embriologiese ontwikkeling van gesplete lip en/of verhemelte dien slegs as agtergrond vir die geneeskundige maatskaplike werker wat deel vorm van die interdissiplinêre span van 'n gesplete verhemelte/lip kliniek. Hierdie navorsing fokus primêr op die psigo-sosiale implikasies van gesplete lip en/of verhemelte op die individu/kind sowel as op die gesin. Die literatuurstudie het ook die teoretiese perspektiewe wat die maatskaplike werker se taak rig, ingesluit en daar is op die sisteem- en sterkteperspektief gefokus. Hierdie perspektiewe is aan die hand van die ontwikkelingsgerigte benadering geïmplementeer. Daar is besluit om tien voorskoolse kinders met kongenitale deformiteit, dus tussen die ouderdomme van een maand tot ses jaar sowel as hul moeders, wat vanuit die Tygerberg Hospitaal se diensarea afkomstig is, by die ondersoek te betrek. Die ondersoek is deur 'n kombinasie van kwalitatiewe sowel as kwantitatiewe navorsingsmetodes, naamlik gestruktureerde onderhoude sowel as gestruktureerde vraelyste, gerig. Die resultate van hierdie ondersoek het tot 'n groot mate die bevindinge van die literatuurstudie bevestig naamlik dat individue/kinders met 'n kongenitale deformiteit, sowel as hul gesinne, 'n hoë risikogroep vir psigo-sosiale probleme is. Hierdie psigo-sosiale probleme dui byvoorbeeld op verhoudings-probleme in die gesin, kognitiewe probleme vir die individu/kind sowel as sosiale aanpassingsprobleme vir die individu/kind en die gesin aan. Die resultate het dus 'n aanduiding gegee van wat die inhoud van intervensieprogramme vir hierdie teikengroep behoort te wees. Die aanbevelings het op drie areas gefokus naamlik algemene aanbevelings ten opsigte van voorgeboorteklinieke waar gesplete lip en/of verhemelte geïdentifiseer moet word, algemene aanbevelings ten opsigte van riglyne vir die maatskaplike werker voordat intervensie met die teikengroep begin en algemene aanbevelings ten einde riglyne daar te stel vir maatskaplike intervensie, sodat die psigo-sosiale implikasies op die individu/kind beperk word. Die aanbevelings sluit in verdere navorsing ten einde die onkunde van die samelewing ten opsigte van gesplete lip en/of verhemelte aan te spreek. Hierdie navorsing moet fokus op die ontwikkeling van maatskaplikewerk-programme wat deur primêre voorkoming die samelewing beter aangaande die deformiteit inlig.

O objetivo do presente estudo foi avaliar subjetivamente a estética do perfil facial de 30 pacientes adultos leucodermos, com fissura transforame incisivo unilateral, não sindrômicos, de ambos os gêneros, com idades entre 17 anos e 3 meses e 30 anos e 9 meses, e média de 23 anos e 3 meses, reabilitados no Hospital de Reabilitação de Anomalias Craniofaciais (HRAC–USP). Foram obtidas 60 fotografias faciais da amostra selecionada, 30 do perfil direito e 30 do perfil esquerdo. Essas fotografias foram avaliadas subjetivamente por 25 examinadores divididos em 5 categorias de acordo com sua área de atuação profissional: 5 ortodontistas e 5 cirurgiões plásticos atuantes na reabilitação de fissuras no HRAC, 5 ortodontistas e 5 cirurgiões plásticos inexperientes na área de fissuras e 5 leigos com formação superior. Por meio de notas que variavam de 1 a 9, os perfis faciais foram classificados em 3 categorias, esteticamente desagradável (notas de 1 a 3), esteticamente aceitável (notas de 4 a 6) e esteticamente agradável (notas de 7 a 9). Os resultados mostraram que os perfis faciais dos pacientes foram classificados em esteticamente aceitáveis, com variações entre as categorias de examinadores. Os profissionais do HRAC, por conhecerem as limitações que o processo de reabilitação impõe aos indivíduos com fissuras, foram os mais condescendentes no julgamento estético. / The aim of this study was to evaluate esthetically the facial profile of 30 adult Caucasian unilateral cleft lip and palate (CLP)patients, without syndromes, of both genders, with ages ranging from 17 years 3 months to 30 years 9 months (mean age = 23 years 3 months), rehabilitated at the Hospital for Rehabilitation of Craniofacial Anomalies (HRAC–USP). Sixty profile photographs of the selected sample were taken, 30 of the right profile and 30 of the profile. These photographs were subjectively evaluated by 25 examiners divided into 5 categories according to their professional activity: 5 orthodontists and 5 plastic surgeons dealing with CLP, 5 orthodontists and 5 plastic surgeons without experience in the CLP field and 5 laymen by means of scores that ranged from 1 to 9, the facial profiles were classified into 3 categories: esthetically unpleasant (scores 1 to 3) esthetically acceptable (scores 4 to 6) and esthetically pleasant (scores 7 to 9). The findings showed that the patient’s facial profiles were classified as esthetically acceptable, with variations among the categories of examiners. The examiners of the HRAC gave the best scores in the esthetic judgement due to their Knowledge of limitations related to the rehabilitation process.

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.

Objetivos: Avaliar a qualidade de vida (QV) e o impacto das condições de saúde oral na QV de indivíduos com fissura labiopalatina reparada, nos períodos pré e pós-correção cirúrgica da deformidade dentofacial (DDF), bem como verificar a expectativa dos indivíduos relacionada à correção cirúrgica e a satisfação com os resultados. Material e Método: Estudo quantitativo e prospectivo, realizado no Hospital de Reabilitação de Anomalias Craniofaciais da Universidade de São Paulo. Participaram 50 indivíduos acima de 18 anos, de ambos os sexos, com fissura labiopalatina reparada e indicação para cirurgia de correção da DDF. Para avaliar a QV foram utilizados os instrumentos WHOQOL-Bref e OHIP-14. Para verificar a expectativa do indivíduo com a correção cirúrgica da DDF e a satisfação com os resultados, um questionário elaborado para este estudo foi aplicado, aproximadamente três dias antes e entre três e 12 meses após a cirurgia. Foram realizadas comparações entre os resultados obtidos nos dois momentos investigados, considerando-se o nível de significância de 5%. O teste t para amostras pareadas foi utilizado para analisar os resultados do WHOQOL-Bref, o teste de Wilcoxon foi utilizado na análise dos resultados do OHIP-14 e do questionário sobre a expectativa e satisfação com os resultados do tratamento. Resultados: A comparação dos resultados obtidos com o WHOQOL-Bref evidenciou diferença significativa após a cirurgia para os domínios: Físico (p=0,034), Psicológico (p<0,001), Meio Ambiente (p=0,034) e nas Questões Gerais (p=0,014). Assim como para os domínios: Desconforto Psicológico (p<0,001), Limitação Psicológica (p<0,001), Limitação Social (p=0,027), Incapacidade (p=0,001) e no Escore Geral (p<0,001) para o OHIP-14. A maior expectativa quanto à cirurgia foi a estética facial (78%) e, após tal procedimento, 96% da amostra apresentaram-se satisfeitos com os resultados alcançados para a face (p<0,001), nariz (p=0,004), dentes (p<0,001) e lábios (p<0,001). Conclusão: A correção cirúrgica da DDF propiciou melhora da QV e o impacto negativo da saúde oral na QV diminuiu; a maior expectativa antes da cirurgia era a melhora da estética facial e após a cirurgia os indivíduos se mostraram satisfeitos com os resultados relacionados aos aspectos corpo, face, nariz, dentes e lábios. / Objectives: To evaluate the quality of life (QL) and the impact of oral health conditions on the QL of individuals with repaired cleft lip and palate, in periods before and after surgical correction of the dentofacial deformity (DFD), as well as to analyze the expectations of individuals related with the surgical correction and satisfaction with the outcomes. Material and methods: Quantitative and prospective study conducted at the Hospital for Rehabilitation of Craniofacial Anomalies, University of São Paulo. The study was conducted on 50 individuals older than 18 years, of both genders, with repaired cleft lip and palate and with indication for surgical correction of DFD. The QL was evaluated using the instruments WHOQOL-Bref and OHIP-14. To verify the expectations of individuals about the surgical correction of DFD and the satisfaction with the outcomes, a questionnaire designed for this study was applied approximately three days before and three to 12 months after surgery. The results obtained in the two moments were compared, considering a significance level of 5%. The t test for paired samples was used to analyze the outcomes of the WHOQOL-Bref, the Wilcoxon test was used for analysis of the outcomes of OHIP-14 and questionnaire about the expectation and satisfaction with the treatment outcomes. Results: Comparison of the results obtained with the WHOQOL-Bref evidenced significant difference after surgery for the following domains: Physical (p=0.034), Psychological (p<0.001), Environment (p=0.034) and in General Questions (p=0.014), as well as the domains Psychological Discomfort (p<0.001), Psychological Limitation (p<0.001), Social Limitation (p=0.027), Inability (p=0.001) and Overall Score (p<0.001) for the OHIP-14. The greatest expectation about surgery was for facial esthetics (78%) and, after the procedure, 96% of the sample was satisfied about the outcomes achieved for the face (p<0.001), nose (p=0.004), teeth (p<0.001) and lips (p<0.001). Conclusion: Surgical correction of the DFD provided improvement in the QL and the negative impact of oral health on QL was reduced; the greatest expectation before surgery was to improve the facial esthetics, and after surgery the individuals were satisfied about the outcomes related to the aspects body, face, nose, teeth and lips.