Os resultados das cirurgias corretivas estéticas para o alongamento da columela nem sempre obtém sucesso, persistindo algumas deformidades como o achatamento e alargamento nasal, columela curta e as grandes cicatrizes. Desta forma, a avaliação dos resultados cirúrgicos se faz necessária para alcançar a excelência na reconstrução nasal dos pacientes com FTIB. Assim, o estudo tem como objetivo avaliar a qualidade da estética nasal após a cirurgia de alongamento de columela por meio da análise objetiva e subjetiva da face dos pacientes operados no HRAC. Para isto, avaliamos 70 pacientes com FTIB após a cirurgia de alongamento de columela, apresentando idade atual a realização deste trabalho (6-12 anos) e 60 pacientes sem fissura na mesma faixa etária (grupo controle). A análise objetiva foi realizada por meio de 4 medidas antropométricas do nariz nos pacientes com FTIB operados e no grupo controle. Observou-se que a medida AL-AL (largura nasal) em pacientes com FTIB apresentou-se maior quando comparada ao grupo controle (p<0,05); diferentemente, SN-PRN (projeção da ponta nasal) e SN-C (comprimento da columela) demonstrou ser menor (p<0,05). Somente a medida Sn`-Sn`(largura da columela) foram semelhantes em ambos os grupos (p>0,05). Assim, demonstrando que mesmo após a cirurgia de alongamento de columela, não foram corrigidas a largura nasal, projeção da ponta nasal e comprimento da columela. Para analise qualitativa utilizou-se escores de 1 a 5 para avaliar a forma nasal (largura nasal), a projeção da ponta nasal e o comprimento da columela nos pacientes com FTIB antes e após a cirurgia. Observou-se que a aparência nasal melhorou após a cirurgia restabelecendo a harmonia e estética do nariz em grande parte dos pacientes. No entanto muitos pacientes continuaram com a aparência nasal pobre mesmo após a reparação cirúrgica. Da mesma forma, resultados semelhantes foram evidenciados na avaliação qualitativa da forma das narinas utilizando a classificação de Topinard. Desta forma, conclui-se que a cirurgia de alongamento de columela melhora a estética nasal, porém em muitos pacientes esta não conseguiu restabelecer por completo a forma nasal. / The results of aesthetic corrective surgeries for lengthening the columella are not always well succeed, remaining some deformities as nasal flattening and widening, short columella and large scars. In this way, the evaluation of surgical outcomes is needed to reach the excellence in nasal reconstruction in patients with bilateral cleft lip and palate. Thus, the present study aims to evaluate the quality of nasal aesthetics after surgical lengthening of columella by means of objective and subjective analysis of the face of the patients at HRAC For this, we evaluated 70 patients with bilateral cleft lip and palate after surgery columella elongation, current age presenting this work (6-12 years) and 60 patients without cleft at same age (control group). The objective analysis was performed using 4 anthropometric measurements of the nose in patients with bilateral cleft lip and palate operated and control group. It was observed that the measured AL-AL (nasal width) in patients with bilateral cleft lip and palate was higher compared to the control group (p<0.05); differently, SN-PRN (projection of the nasal tip) and SN-C (length of the columella) demonstrated to be lower (p<0.05). Just Sn-Sn (width of the columella) was similar in both groups (p>0.05). Thus, demonstrating that even after surgical lengthening the columella were not corrected nasal width, nasal tip projection and columella length. For qualitative analysis, we used scores 1-5 to evaluate the nasal form (nasal width), the projection of the nasal tip and columella length in patients with bilateral cleft lip and palate before and after surgery. It was observed an improvement in nasal appearance after surgery and aesthetic harmony restoring the nose in most patients. However many patients continued with poor nasal appearance after surgical repair. Similar results were found in the qualitative evaluation of the nostrils shape using Topinard classification. In this way, we conclude that lengthening surgery of nasal columella improves aesthetics, but in many patients it failed to restore completely the nasal form.

Objetivo: Avaliar a força de mordida (FM) em crianças com fissura labiopalatina (FLP) reparada. Material e Métodos: Cento e cinquenta crianças, com idade entre 6-12 anos, com e sem FLP, foram divididos em 5 grupos: 1) grupo controle (CON) : 34 crianças sem FLP; 2) grupo com fissura pré-forame incisivo (FPré): 31 crianças com fissura envolvendo o pré-maxila; 3) grupo FLP transforame incisivo unilateral (FTU): 36 crianças com FLP transforame incisivo unilateral completa; 4) grupo FLP transforame incisivo bilateral (FTB): 32 crianças com FLP transforame incisivo bilateral completa; e 5) grupo fissura pós-forame incisivo (FPós): 17 crianças com fissura pós-forame incisivo completa. A FM, expressa em Kgf, foi avaliada por meio de gnatodinamômetro (IDDK, Kratos, Cotia, SP, Brasil). Foram feitas 3 medidas consecutivas, com um intervalo de 1 minuto entre elas, para evitar a fadiga do voluntário. A medida mais elevada foi considerada para análise. Para os grupos CON, FTB, FPré e FPós, a FM foi obtida na região anterior e posterior da maxila. Para o grupo FTU, FM foi avaliada nas regiões anterior e posterior de ambos os segmentos, a fim de se distinguir os valores de FM em regiões diferentemente afetadas pela presença da fissura. As diferenças entre os grupos foram avaliadas através do teste ANOVA de medidas repetidas. O teste de Tukey foi utilizado para aferir correlação entre as variáveis. Para a correlação entre FM e idade, foi utilizado o teste de Correlação de Pearson. Em todos os casos, foram considerados significativos valores de p<0.05. Resultados: Não foram encontradas diferenças significativas entre a FM posterior do grupo CON (30,7±9,2) e dos grupos FPré (35,3±11,6), FTU (lado fissurado: 26,5±10,7 e lado não-fissurado: 29,6±10,0), FTB (25,6±5,9) e FPós (29,1±12,0). Entretanto, valores de FM significantemente maiores foram observados no grupo FPré, quando comparado a FTU e FTB. Não foram observadas diferenças significantes entre o lado fissurado e não fissurado do grupo FTU. Finalmente, em todos os grupos, os valores de FM da região anterior da maxila foram menores, quando comparados à região posterior. Conclusão: Neste trabalho os valores de FM em crianças com FLP foram equivalentes àqueles encontrados em crianças sem essa anomalia. / Objective: To assess the bite force (BF) of children with repaired cleft lip and palate (CLP) Design: One hundred and fifty children, aged 6-12 years, with and without CLP, were divided into the following 5 groups: 1) control group (CON): 34 children without CLP; 2) cleft lip group (CL): 31 children with cleft lip involving the pre-maxilla; 3) unilateral CLP group (UCLP): 36 children with complete unilateral CLP; 4) bilateral CLP group (BCLP): 32 children with complete bilateral CLP; and 5) cleft palate group (CP): 17 children with complete cleft palate. BF, expressed in Kgf, was assessed with a gnathodynamometer (IDDK, Kratos, Cotia, SP, Brazil), before alveolar bone grafting. For CON, BCLP, CL and CP groups, BF was obtained in the anterior and posterior region of the maxilla. For the UCLP group, BF was assessed in the anterior and posterior regions of both segments. Differences among groups were evaluated by ANOVA test, and Tukeys test was used to assess any correlations among variables. Correlation between BF and age were assessed using Pearson Product-Moment Correlation. In all cases, values of p < 0.05 were considered for analysis. Results: Contrary to what was expected, no differences of posterior BF were observed among CON group (30.7 ± 9.2) and CL (35.3 ± 11.6), UCLP (cleft side: 26.5 ± 10, 7 and noncleft side: 29.6 ± 10.0), BCLP (25.6 ± 5.9) and CP (29.1 ± 12.0) groups. However, a stronger BF was observed in the CL group when compared to the UCLP and BCLP groups. Next, no differences were observed between the cleft side and the noncleft side in the UCLP group. Lastly, in all groups, BFs from the anterior region of the maxilla were less when compared to the posterior regions. Conclusion: The BF of children with CLP is no different from children without CLP.

A fissura labiopalatina (FL/P) é uma das malformações craniofaciais mais comuns em humanos, com variação epidemiológica nas diferentes populações. Possui diferentes apresentações clínicas, divergindo de acordo com a extensão e estruturas acometidas, podendo acometer somente o lábio ou lábio e palato em conjunto, uni ou bilateralmente, de maneira completa ou incompleta ou apenas o palato (FP) tanto completa como incompletamente. Podem fazer parte de um quadro sindrômico, recebendo a denominação de FL/P sindrômica ou acontecer como um fenótipo isolado, sendo chamada de FL/P isolada ou não sindrômica. Em relação a etiologia da FL/P não sindrômica, a literatura afirma ser multifatorial com a predisposição genética associada a fatores ambientais. Apesar de se apresentarem frequentemente associadas, a FL/P e FP não sindrômicas são consideradas etiologicamente e embriologicamente distintas. Objetivo: Aprofundar e ampliar o conhecimento das FP isoladas não sindrômicas, descrevendo o fenótipo principal (FP isolada) e seus subfenótipos clínicos, investigando o fator genético relacionado à recorrência por meio do histórico familial e buscando elucidar possível fatores ambientais envolvidos por meio do histórico gestacional. Material e métodos: Foram coletados dados de 165 prontuários médicos de pacientes com FP isolada não sindrômica matriculados no Hospital de Reabilitação de Anomalias Craniofaciais da Universidade de São Paulo (HRAC-USP). Para a coleta desses dados foram analisados segmentos do prontuário referentes a atendimentos realizados no HRACUSP em diferentes setores. Resultados: Em 165 pacientes estudados, o sexo feminino foi o mais acometido com 106 casos (64,24%) encontrados. O tipo de FP predominante foi a incompleta correspondendo a 88,48% da amostra total, sendo dentre elas a fissura de palato duro parcial a mais prevalente. Em cinco casos não foi possível realizar a classificação nos grupos referentes ao tipo de fissura adotados, sendo necessária a criação de um grupo de classificação adicional. Recorrência familial positiva foi relatada em 28,47% de 144 casos em que havia informação, e na maioria das vezes havia apenas 1 outro familiar acometido. A média da idade das mães e dos pais no momento da concepção foi de 26,9 e 31,4 anos, respectivamente. A porcentagem de abortos anteriores foi de 11,95% dos 92 casos informados e a consanguinidade foi de 3,29% dos 91 casos informados. A intercorrência mais frequentemente relatada (25 em 154 casos informados) foi o uso de medicamentos, tais como, antibióticos, anti-hipertensivos e medicamentos que auxiliam na prevenção do parto prematuro. Conclusão: O fenótipo FP isolada possui variações quanto à extensão de cometimento, sendo que as fissuras incompletas foram as mais frequentes e o sexo feminino predominantemente acometido. Em relação ao histórico familial e gestacional os dados que mais chamaram atenção estão relacionados ao percentual de recorrência familial (28,47%) e o uso de medicação durante a gestação. / Cleft lip and palate (CL/P) is one of the most common craniofacial malformations in humans, with epidemiological variation in different populations. It has different clinical presentations that diverge according to the extension and affected structures, and may either affect the lip or lip and palate together, unilaterally or bilaterally, in a complete or incomplete way or just affect the palate (CP) completely or incompletely. CL/P can either be related to a syndrome, classified as syndromic CL/P or unrelated to a syndrome, occurring as an isolated phenotype, designated as isolated or nonsyndromic CL/P. Regarding the etiology of nonsyndromic CL/P, research indicates multifactorial causes with a genetic predisposition associated with environmental factors. Although it is often present in association, nonsyndromic CL/P and CP are considered embryologically and etiologically distinct. Objective: To deepen and broaden the knowledge of individual nonsyndromic CP, describing the main phenotype (isolated CP) and its clinical subphenotypes, investigating the genetic factors related to recurrence through family history and to elucidate possible environmental factors involving gestational history. Material and Methods: Data were collected from 165 medical patients records with isolated nonsyndromic CP enrolled at the Hospital de Reabilitação de Anomalias Craniofaciais da Universidade de São Paulo (HRAC-USP). For data collection, segments of the records pertaining to care provided by HRAC-USP in different sectors were analyzed. Results: In the 165 patients studied, females were the most affected with 106 cases (64.24%) found. The predominant type of CP was incomplete corresponding to 88.48% of the total sample, and among these incomplete CP, the clefts involving partial hard palate were the most prevalent. In five cases it was impossible to classify the type of cleft, and the creation of an additional classification group was required. Positive familial recurrence was reported in 28.47% of 144 cases where information was available and in most cases there was only one other affected family member. The average age of mothers and fathers at conception was 26.9 and 31.4 years respectively. The percentage of previous miscarriages was 11.95% of the 92 reported cases and consanguineous marriage was found in 3.29% of the 91 reported cases. The most frequently reported complication (25 in 154 reported cases) was the use of drugs such as antibiotics, antihypertensives drugs, and drugs used to prevent premature birth. Conclusion: The phenotype Isolated CP presents variations in the extent of involvement, and incomplete clefts were the most frequent, with females predominantly affected. Regarding family history and gestational data what calls more attention were the percentage of familial recurrence (28.47%) and the use of medication during pregnancy.

A Fissura Labiopalatina é uma doença multifatorial que tem interferência sobre a qualidade da alimentação da criança, visto que na maioria das vezes os pacientes têm dificuldades de mastigação e deglutição. O zinco está envolvido em diversos processos fisiológicos, tem importante relação com mecanismos antioxidantes, imunitários, replicação celular e de transcrição protéica. De acordo com a Organização Mundial de Saúde, o zinco é o micronutriente mais importante para o desenvolvimento corporal e cognitivo da criança. Considerando a interferência da Fissura Labiopalatina sobre a qualidade da alimentação, e a importância do zinco para o desenvolvimento da criança, este estudo se propôs a avaliar o estado nutricional relativo ao zinco de crianças de 6 a 10 anos com Fissura Labiopalatina atendidas no Centro de Atendimento Integrado ao Fissurado Labiopalatino de Curitiba - PR. Foram dosadas as concentrações de zinco plasmático, eritrocitário e urinário. A quantidade de zinco dietético foi avaliada por meio dos métodos de recordatório de 24h e três registros alimentares. Foram avaliados peso e estatura, como dados antropométricos, e comparados ao escore Z. O estudo foi do tipo casocontrole. A concentração média de zinco plasmático, eritrocitário e urinário no grupo caso foi de 83,4&#181;gZn/dL, 32,6&#181;gZn/gHb e 141,4&#181;gZn/24h, respectivamente. A concentração média de zinco plasmático, eritrocitário e urinário do grupo controle foi de 100,2&#181;gZn/dL, 34,7&#181;gZn/gHb e 373,4&#181;gZn/24h, respectivamente. Considerando os parâmetros analisados observou-se deficiência de zinco em ambos os grupos, principalmente considerando as concentrações de zinco no eritrócito e a excreção urinária para o grupo caso. No grupo controle as crianças estavam deficientes para zinco plasmático e eritrocitário 8% e 84% respectivamente. No grupo caso as crianças estavam deficientes para zinco plasmático, eritrocitário e urinário em 15%, 92% e 100%. Assim, pode-se concluir que as crianças com fissura labiopalatina estão mais sujeitas às deficiências nutricionais como o caso do zinco assim demonstrado neste estudo. / Lip and palate cleft are a multifactorial disease that has interference on the quality of children\'s nutrition, as most of the time patients have difficulty chewing and swallowing. Zinc is involved in several physiological processes, has an important relationship to antioxidant mechanisms, immune, cellular replication and transcription protein. According to World Health Organization, zinc is the most important micronutrient for body growth and cognitive development. Considering the interference of Cleft on the quality of food, and the importance of zinc for the child\'s development, this study was to assess the nutritional status of zinc in children aged 6 to 10 years treated at the Lip and Palate Cleft Integrated Center of Curitiba - PR. Were measured concentrations of plasma zinc, erythrocyte and urine. The amount of dietary zinc was assessed using the methods of three 24-hour recall and feeding records. Weight and height were evaluated as anthropometric data, and compared to the Z score. The study was a case-control study. The average concentration of plasma zinc, erythrocyte and urine in the case group was 83.4 &#181;gZn/dL, 32.6 &#181;gZn/gHb and 141,4 &#181;gZn/24h, respectively. The average concentration of plasma zinc, erythrocyte and urinary control group was 100.2 &#181;gZn/dL, 34.7 &#181;gZn/gHb and 373,4 &#181;gZn/24h respectively. Considering the parameters evaluated, we observed zinc deficiency in both groups, especially considering the zinc concentrations in erythrocytes and the urinary excretion for the group case. In the control group were zinc deficient plasma and erythrocyte 8% and 84%. In the case group were zinc deficient plasma, erythrocyte and urinary 15%, 92% and 100%. In conclusion, children aged 6 to 10 years are under risk of zinc deficiency. Whereas, children with lip and palate cleft are under higher risk of zinc deficiency comparing to control group.

Orientador: Ricardo Della Coletta / Dissertação (mestrado) - Universidade Estadual de Campinas, Faculdade de Odontologia de Piracicaba / Made available in DSpace on 2018-08-20T21:55:08Z (GMT). No. of bitstreams: 1 Pinto_ElizabeteBagordakis_M.pdf: 1068355 bytes, checksum: 106aec8c4631e33ee9cf3204562103e1 (MD5) Previous issue date: 2012 / Resumo: Fissuras do lábio e/ou palato (FL/P) representam as anomalias congênitas mais comuns da face, correspondendo a aproximadamente 65% de todas as malformações da região craniofacial. Em 70% dos casos, as FL/Ps se apresentam como fenótipos isolados, recebendo a denominação FL/P não-sindrômica (FL/PNS). Embora estudos recentes de larga escala genômica descreveram várias regiões cromossômicas e genes candidatos à etiologia das FL/PNS, apenas poucos foram confirmados em diferentes populações. Um dos possíveis fatores que podem induzir uma discrepância nos resultados é a diferença na composição (mistura) étnica das populações. Então, como o Brasil é composto por uma população altamente miscigenada é importante confirmar se tais marcadores também mostram suscetibilidade à FL/PNS na população brasileira. O propósito deste estudo caso-controle foi avaliar o envolvimento de polimorfismos genéticos que foram recentemente descritos como marcadores de risco para o desenvolvimento de FL/PNS em um grupo brasileiro de pacientes com FL/PNS. A influência da ancestralidade populacional na suscetibilidade a FL/PNS destes marcadores genéticos também foi avaliada. Os polimorfismos rs560426 em 1p22.1, rs2013162 em 1q32, rs987525 e rs1530300 em 8q24, rs1443434 e rs3758249 em 9q21, rs7078160 em 10q25.3, rs17085106 em 18q22 e rs13041247 em 20q12 foram genotipados em 338 indivíduos saudáveis (grupo controle) e 345 pacientes com FL/PNS pelo método de discriminação alélica com sondas fluorescentes. A ancestralidade genômica de cada indivíduo foi determinada pela caracterização de 40 marcadores bialélicos de inserção/deleção (INDELs). A distribuição genotípica de todos os polimorfismos no grupo controle respeitou o equilíbrio de Hardy-Weinberg. A frequência do alelo G no polimorfismo rs560426 foi significantemente maior no grupo FL/PNS comparado ao grupo controle, gerando um odds ratio (OR) de 1,44 (IC 95%: 1,16-1,78; p=0,0008). A distribuição dos polimorfismos da região 8q24 (rs987525 e rs1530300) também foi significantemente correlacionada com a suscetibilidade ao desenvolvimento de FL/PNS como marcadores individuais ou em haplótipo. Os 3 polimorfismos (rs560426, rs987525 e rs1530300) revelaram associação com a fissura labial isolada (FL) e a fissura lábio-palatina (FLP), mas não com o risco de desenvolver fissura palatina isolada (FP). Após o ajuste para a ancestralidade genômica, as correlações dos polimorfismos rs560426, rs987525 e rs1530300 com FL/PNS foram mantidas. Em conclusão, os resultados do presente estudo demonstram a associação dos polimorfismos localizados em 1p22.1 (rs56042 6) e em 8q24 (rs987525 e rs1530300) com a suscetibilidade genética ao desenvolvimento de FL/PNS na população brasileira / Abstract: Cleft lip and/or palate (CL/P) is the most common congenital anomaly of the face, corresponding to approximately 65% of all malformations in the craniofacial region. In 70% of the cases, CL/Ps are found as an isolated phenotype, receiving the denomination nonsyndromic CL/P (NSCL/P). Although recent genome-wide association studies have been identified a varied of chromosomal loci and candidate genes in association with NSCL/P development, just few of them has been replicated in different populations. These contradictory results may be related to the differences in the ethnicity of the populations. Thus, as the Brazilian population is one of the most heterogeneous in the world, it is important to confirm the susceptibility of those markers identified in genetically homogenous populations in the Brazilian population. The purpose of this case-control study was to verify the association of single nucleotide polymorphisms, which were identified as NSCL/P risk markers, with NSCL/P in a Brazilian population. The influence of the genetic ancestry of the population on susceptibility of those markers was also investigated. The polymorphisms rs560426 in 1p22.1, rs2013162 in 1q32, rs987525 and rs1530300 in 8q24, rs1443434 and rs3758249 in 9q21, rs7078160 in 10q25.3, rs17085106 in 18q22, and rs13041247 in 20q12 were genotyped in 338 samples from healthy individuals (control group) and 345 NSCL/P patients by the allelic discrimination method with fluorescence probes. The genomic ancestry of each individual was determined by genotyping 40 biallelic short insertion-deletion polymorphic markers (INDELs). The genotype frequencies observed for all studied polymorphisms in the control group did not reveal statistically significant differences compared to those expected under Hardy-Weinberg equilibrium. The percentage of the G allele of rs560426 polymorphism was found to be significantly higher in the NSCL/P group as compared to the control group, revealing an odds ratio (OR) of 1.44 (95% CI 1.16-1.78; p=0.0008). The distributions of both 8q24 polymorphisms (rs987525 and rs1530300) were significantly correlated with NSCL/P susceptibility as individual or haplotype markers. All 3 markers were associated with the development of isolated (CL) and cleft lip and palate (CLP), but not with cleft palate only (CP). After adjustment to ancestry contribution, correlations of all 3 polymorphisms were kept. In conclusion, the findings of the present study demonstrate the association of polymorphisms located at 1p22.1 and 8q24 with NSCL/P in the Brazilian population / Mestrado / Patologia / Mestra em Estomatopatologia

This thesis is an exploration of various aspects of oral health in the early-modern period. It examines evidence taken from texts belonging to a range of genres including surgical manuals, botanical texts, midwifery manuals, poets and plays. Building on existing academic work relating to the history of dentistry and venereal disease, it aims to assimilate material from across science and the arts in order to gain a sense of what general social expectations were in relation to the condition of the teeth and palate, and how people suffering with a decline in oral health were advised, or what treatments were available to them either from a professional or in the home. It aims to challenge existing preconceptions that people living in this period displayed a negligent attitude towards the health of their teeth and oral hygiene. The thesis contains four chapters which each focus on a different aspect of oral health, though many themes recur across all four chapters. The first chapter investigates advice that was available in print, and therefore likely to be in public consciousness, to the early-modern individual in relation to maintaining their teeth. It then considers the portrayal of unattractive teeth and bad breath in early-modern literature. Chapter Two deals with early-modern explanations of what caused the toothache and how it could be remedied. Analysis of the depictions of toothache in various poetry and plays follows in order to explore how wider society made sense of medical thinking at the time. The palate becomes the sole focus of Chapter Three, which considers what specific health concerns posed a threat to the condition of the roof of the mouth, and what difficulties could arise for the individual whose palate has been damaged by disease or injury. The thesis concludes with a chapter which investigates the history of a congenital oral birth defect, the cleft lip and palate. The thesis was designed to allow each chapter to deal with a separate facet of oral health; they encompass in turn: oral hygiene, dental pain, the impact of disease on the palate and an exploration of an oral birth defect. An undercurrent of the thesis is to use a range of material to ascertain a realistic idea of what it was like for an individual to experience oral health difficulties in this period. It is therefore interested in how society perceived people who were experiencing problems with their oral health, and what could be done to improve their quality of life. The research presented here represents a contribution to the field of the history of oral health and aims to provoke further questions relating to the responsibility early-modern individuals took for their own oral health, and the specific situations in which intervention, either surgical or medicinal, was deemed necessary.

Orientadores: Ricardo Della Coletta, Hercilio Martelli Junior / Dissertação (mestrado) - Universidade Estadual de Campinas, Faculdade de Odontologia de Piracicaba / Made available in DSpace on 2018-08-27T01:12:26Z (GMT). No. of bitstreams: 1 Machado_RenatoAssis_M.pdf: 2319116 bytes, checksum: 2480e205308914fde4162ec2f1c7c657 (MD5) Previous issue date: 2015 / Resumo: O desenvolvimento craniofacial envolve uma série de eventos altamente coordenados e variações polimórficas nos genes que controlam estes eventos podem afetar a morfogênese labial e palatina, resultando nas fissuras do lábio e/ou palato não-sindrômicas (FL/PNS). O objetivo do presente estudo foi verificar a associação dos polimorfismos em genes relacionados ao desenvolvimento craniofacial, HOXD1 (rs1374326), TNP1 (rs748044), MSX1 (rs1106514), TCOF1 (rs15251, rs2569062, rs28372960), FGFR1 (rs7829058), COL2A1 (rs1793949), WNT3 (rs11653738) e TIMP3 (rs242082), na susceptibilidade das FL/PNS em uma população brasileira. Para verificar a associação destes polimorfismos, este estudo associou o teste de desequilíbrio de transmissão (TDT) com a análise caso-controle com correção de variações genéticas de ancestralidade em uma amostra composta de 189 trios com fissura labial com ou sem fissura palatina não-sindrômica (FL±PNS), 107 trios com fissura palatina não-sindrômica (FPNS), 318 amostras isoladas de pacientes com FL±PNS, 189 amostras isoladas de pacientes com FPNS e 599 controles. Todos os polimorfismos foram inicialmente analisados por TDT e as associações significantes foram confirmadas na análise caso-controle. Os polimorfismos rs28372960 e rs7829058 foram transmitidos de maneira significante dos genitores para os pacientes com FL±PNS (p=0,04), assim como os polimorfismos rs1374326 e rs11653738 nos trios com FPNS (p=0,04). Contudo, o estudo caso-controle não confirmou tais associações. O haplótipo C-C-T formado pelos polimorfismos rs15251, rs2569062 e rs28372960 no gene TCOF1 foi significantemente mais comum nos pacientes com FL±PNS em comparação com o grupo controle (p=0,01). Frente as modestas associações, nossos resultados não suportam a hipótese de que variantes estudadas nos genes HOXD1, TNP1, MSX1, TCOF1, FGFR1, COL2A1, WNT3 e TIMP3 são fatores de risco para FL/PNS em uma população brasileira / Abstract: The craniofacial development involves a series of highly coordinated events, and polymorphic variations in genes that control these events can affect the morphogenesis of the lip and palate, resulting in the non-syndromic cleft lip and/or palate (NSCL/P). The aim of present study was to verify the association of polymorphisms in genes related to craniofacial development, HOXD1 (rs1374326), TNP1 (rs748044), MSX1 (rs1106514), TCOF1 (rs15251, rs2569062, rs28372960), FGFR1 (rs7829058), COL2A1 (rs1793949), WNT3 (rs11653738) and TIMP3 (rs242082), in the susceptibility of NSCL/P in a Brazilian population. To verify the association of those polymorphisms, the study associated the transmission disequilibrium test (TDT) and a structured case-control analysis based on the individual ancestry proportions in a sample composed of 189 case-parent trios of non-syndromic cleft lip with or without cleft palate (NSCL±P), 107 case-parent trios of non-syndromic cleft palate (NSCP), 318 isolated samples of NSCL±P, 189 isolated samples of NSCP and 599 healthy controls. All polymorphisms were initially evaluated by TDT, and significant associations were valitaded in a case-control analysis. A significant overtransmission of rs28372960 and rs7829058 polymorphisms in NSCL±P trios was observed (p=0.04), as well as the rs1374326 and rs11653738 polymorphisms in NSCP trios (p=0.04). However, the structured case-control analysis did not confirm those associations. The haplotype C-C-T formed by rs15251, rs2569062 and rs28372960 polymorphisms in TCOF1 gene was significantly more frequent in patients with NSCL±P in comparison with the control group (p=0.01). With the modest associations, our results do not support the hypothesis that HOXD1, TNP1, MSX1, TCOF1, FGFR1, COL2A1, WNT3 and TIMP3 variants are risk factors for NSCL/P in a Brazilian population / Mestrado / Patologia / Mestre em Estomatopatologia

abstract: Children with cleft palate with or without cleft lip (CP+/-L) often demonstrate disordered speech. Clinicians and researchers have a goal for children with CP+/-L to demonstrate typical speech when entering kindergarten; however, this benchmark is not routinely met. There is a large body of previous research examining speech articulation skills in this clinical population; however, there are continued questions regarding the severity of articulation deficits in children with CP+/-L, especially for the age range of children entering school. This dissertation aimed to provide additional information on speech accuracy and speech error usage in children with CP+/-L between the ages of four and seven years. Additionally, it explored individual and treatment characteristics that may influence articulation skills. Finally, it examined the relationship between speech accuracy during a sentence repetition task versus during a single-word naming task. Children with CP+/-L presented with speech accuracy that differed according to manner of production. Speech accuracy for fricative phonemes was influenced by severity of hypernasality, although age and status of secondary surgery did not influence speech accuracy for fricatives. For place of articulation, children with CP+/-L demonstrated strongest accuracy of production for bilabial and velar phonemes, while alveolar and palatal phonemes were produced with lower accuracy. Children with clefting that involved the lip and alveolus demonstrated reduced speech accuracy for alveolar phonemes compared to children with clefts involving the hard and soft palate only. Participants used a variety of speech error types, with developmental/phonological errors, anterior oral cleft speech characteristics, and compensatory errors occurring most frequently across the sample. Several factors impacted the type of speech errors used, including cleft type, severity of hypernasality, and age. The results from this dissertation project support previous research findings and provide additional information regarding the severity of speech articulation deficits according to manner and place of consonant production and according to different speech error categories. This study adds information on individual and treatment characteristics that influenced speech accuracy and speech error usage. / Dissertation/Thesis / Doctoral Dissertation Speech and Hearing Science 2020

Introduction Otitis mediawith effusion is found in almost every patient with cleft palate. Arisk factor for permanent conductive hearing lossis recurring otitis media which is commonly found in cleft palate patients. Several studieshave been conductedto measure the extent of hearing loss in childrenwith cleft palate.Hearing problemsdue to otitis mediaoften persist into adulthood.Thus, it is of interest to see if there are any existing studies onhearing impairments inadultcleft palatepatients. Objective The purpose of this study is tosummarize theexisting literatureon hearing impairments in adult patients with cleft palate and to map the characteristics of the studies found. Method A scoping reviewprotocolproposedby Joanna Briggs Institutewas usedto synthesizeand summerizethe published literaturesearchedinthe PubMed database. Syndromal cleft palates were excluded from this study. Results Onereviewer went through 11full-text articlesthatwere considered relevant.It was possible toidentify five different key areas of research among the included studies. Conclusions It wasfound that there is literature available on this topic,but the heterogeneity of the studies made it impossible to compare the charted data betweenthe studies. We identifieda need for longitudinal studies on this topic and suggest more standardization withregard tothe definitions of cleft palate and hearing impairment.

Objective: The purpose of this study is to determine whether a novel, user-friendly rating system, visual sort and rate (VSR) provides comparable ratings to the currently used direct magnitude estimation (DME) rating system for rating perceptions of audible nasal emission (ANE) and hypernasality in cleft palate speakers. Methods: Twelve naïve listeners rated 152 speech samples of speakers with cleft palate across four conditions: rating hypernasality and ANE using either a VSR or DME rating scale. Raters were provided with a short training session, prior to rating each day. Inter- and intra-rater reliabilities, as well the line of best fit between scores using VSR and scores using DME was calculated to determine usability of VSR as a novel rating system. Results: Direct magnitude estimation resulted in the highest levels of inter-rater reliability, when rating hypernasality (DME r= .48; VSR r=.14), as well as ANE (DME r= .27; VSR r=.15). Most raters demonstrated high intra-rater reliabilities across conditions. A curvilinear line of best fit most accurately captured the relationship between DME and VSR scores when rating hypernasality (r=.64) and ANE (r=.66). Conclusions: A curvilinear relationship between ratings suggests that both variables are prothetic, and therefore, best captured using a DME rating scale (Eadie & Doyle, 2002). The use of DME is supported for continued use rating hypernasality, even amongst naïve listeners given a training session. Rating ANE was difficult, as ratings yielded low inter-rater reliabilities, regardless of the scale used. Further research regarding perceptions of audible nasal emission is warranted.