Considerada uma doença de primeiro e segundo arcos faríngeos (FaSPAD), a Síndrome Aurículo-Condilar (ACS) apresenta como principais características micrognatia, malformação auricular típica chamada de question mark ear (QME) e hipoplasia do côndilo mandibular. Variabilidade clínica inter e intrafamiliar, bem como heterogeneidade genética são observadas na ACS. A doença segrega tanto de maneira autossômica dominante quanto recessiva. Variantes patogênicas tem sido identificadas em GNAI3, PLCB4 e EDN1 como responsáveis pela maioria dos casos investigados. Ainda, estudos não publicados do nosso grupo sugerem a ocorrência de um quarto locus causativo de ACS. No presente trabalho tivemos por objetivo identificar as variantes causativas de ACS em casos anteriormente descritos e casos ainda não reportados e nos propusemos a investigar a heterogeneidade clínica da ACS. Identificamos variantes patogênicas nos genes PLCB4 e GNAI3 em 5 de 6 casos de ACS. No caso restante (1⁄6), restringimos o quarto locus candidato a conter variante causativa de ACS. Estudos adicionais estão sendo realizados afim de identificá-la. Sugerimos também que todas as variantes em GNAI3, aqui e anteriormente descritas, interfiram direta ou indiretamente com a ligação GDP⁄GTP, agindo com um mecanismo dominante negativo. Além disso, nossas observações clínicas mostram que alterações auriculares não-específicas não são sugestivas de ACS e que, devido à grande variabilidade clínica da doença, é importante avaliar em detalhe parentes de primeiro grau do probando. Também, alterações extra-craniofaciais foram vistas em pacientes com mutações missense em heterozigose em PLCB4 e sugerimos a atenção dos geneticistas clínicos para tais achados / Considered as a first and second pharyngeal arch disease (FaSPAD), the Auriculocondylar Syndrome (ACS) presents with micrognathia, a typical ear malformation called question mark ear (QME), and mandibular condyle hypoplasia as main features. Intra and inter-familial clinical variability as well as genetic heterogeneity are observed in ACS. The disease segregates in both autosomal dominant and recessive manner. Pathogenic variants have been identified in GNAI3, PLCB4, and EDN1 in the majority of the investigated cases. Furthermore, non-published studies of our group indicate a fourth locus associated with ACS. In the present study, our aim was to identify the causative variants of ACS in previously and not reported cases and also to investigate the clinical heterogeneity of ACS. We identified pathogenic variants in PLCB4 and GNAI3 in 5 out of 6 ACS cases. In the remaining case (1⁄6), we narrow down the fourth candidate region to contain causative variant of ACS. Additional studies are being conducted to identify it. We also hypothesized that all GNAI3 variants, herein and previously described, interfere with the GDP⁄GTP binding, acting through a dominant negative mechanism. Furthermore, our clinical observations lead us to conclude that non-specific ear malformations are not suggestive of ACS and that, due to the great clinical variability, it is important to evaluate in detail the first-degree relatives of the proband. Moreover, extra-craniofacial alterations were found in a patient with PLCB4 heterozygous pathogenic variant, and we advise clinical geneticists to be aware about such findings

Introdução: Existem evidências clínicas que o obturador faríngeo pode estimular a formação do anel de Passavant em alguns indivíduos com disfunção velofaríngea decorrente de fissura palatina, o que os tornariam melhores candidatos para correção cirúrgica dessa disfunção, ou mesmo para obterem melhores resultados com o uso do obturador faríngeo. Objetivo: O presente estudo teve por objetivo investigar a ocorrência do anel de Passavant em pacientes com fissura de palato, usuários de OF, nas seguintes condições: antes da confecção do OF (condição C1), durante a moldagem do obturador faríngeo (condição C2) e após seis meses de uso do mesmo (condição C3, sem o obturador e condição C4, com o obturador). Material e Método: A casuística deste trabalho foi composta por 25 pacientes (15 homens e 10 mulheres), com idades variando entre 18 e 59 anos (média= 32 anos). Todos os pacientes apresentavam disfunção velofaríngea após a cirurgia de palato e utilizavam obturador faríngeo havia pelo menos 6 meses. Para a avaliação do mecanismo velofaríngeo com e sem o obturador faríngeo, todos os pacientes haviam sido submetidos à avaliação nasoendoscópica durante fala. As 75 gravações dessa avaliação, 25 na condição C1, 25 na condição C2 e 25 nas condições C3 e C4, dos 25 pacientes foram editadas em um DVD e avaliadas por cinco fonoaudiólogas experientes, designadas juízas, quanto aos seguintes aspectos: a) posição do nasoendoscópio durante o exame; b) tamanho do bulbo faríngeo em relação ao espaço velofaríngeo; c) ocorrência de anel de Passavant; d) intercorrências que pudessem comprometer a visualização das paredes da faringe. Os protocolos de anotações utilizados pelas juízas foram baseados e adaptados do proposto por Golding-Kushner et al. (1990). Resultados: O grau médio de concordância intra-juízas para todos os aspectos avaliados foi considerado quase perfeito (83%) e o de concordância inter-juízas variou de regular (35%) a quase perfeito (100%). As avaliações foram comparadas entre si, nas quatro condições, para todos os aspectos avaliados. A única comparação que foi estatisticamente significante foi aquela que comparou os dados obtidos na avaliação da ocorrência do anel de Passavant entre as condições C2 e C4. Os dados revelaram que 14 (56%) pacientes apresentaram mudança na ocorrência do anel em uma ou mais das condições avaliadas e 11 (44%) não apresentaram mudança. Conclusão: Os achados deste estudo permitem concluir que o obturador faríngeo pode agir como um agente estimulador da formação do anel de Passavant em pacientes com disfunção velofaríngea decorrente de fissura palatina. / Background: Clinical evidence shows that pharyngeal obturator can stimulate Passavant´s pad formation in subjects with VPI current from cleft palate. It puts those subjects as better candidates for VPI treatment either surgical correction or pharyngeal obturator. Aim: The present study aimed to investigate Passavant´s pad occurrence in cleft palate subjects, who wore pharyngeal obturators, in the following conditions: before pharyngeal obturator´s confection (condition C1), during pharyngeal obturator molding (condition C2) and after six months wearing the pharyngeal obturator (condition C3, without the pharyngeal obturator and condition C4 with the pharyngeal obturator). Method: The sample was composed by 25 subjects (15 male and 10 female), age range between 18 - 59 years (range = 32 years). All patients had VPI current cleft palate surgery and were pharyngeal obturator wearers for at least six months. All subjects were submitted to nasoendoscopy evaluation during speech, with and without the pharyngeal obturator. The 75 recordings, 25 during condition C1, 25 during C2 and 25 during C3 and C4, were edited in a DVD and rated by five experienced speech pathologists, named judges. The judges had to rate the following aspects: a) nasoendoscope position during the exam; b) pharyngeal obturator size, according velopharyngeal space; c) Passavant´s pad occurrence; d) intercurrences that compromise pharyngeal walls observation. The judge´s rating protocols were based and adapted from the one proposed by Golding-Kushner et al. (1990). Results: Intra judge agreement for every rated aspect was considered, in range, almost perfect (83%), and the inter-judge agreement varied between regular (35%) and almost perfect (100%). The ratings were compared to each other, in every conditions, for all analyzed aspects. The only statistical significant comparison was in Passavant´s pad occurrence, between conditions C2 and C4. Data revealed that the Passavant´s pad occurrence varied, in one o more conditions, in 14 (56%) subjects and, in 11(44%) didn´t show any change. Conclusion: Findings allow us to conclude that, the pharyngeal obturator may act as a stimulus factor for Passavant´s pad formation in patients with VPI current from cleft palate.

xv, 76 p. : ill. (some col.) Includes 4 video files. / Improved understanding of pharyngeal arch (PA) patterning and morphogenesis can reveal critical insights into the origins of craniofacial diseases, such as Fraser syndrome. PAs contain mesenchymal condensations, which give rise to most of the facial skeleton in vertebrates. Studies of Endothelin1 signaling reveal that the skeleton derived from the first two PAs are patterned into dorsal, intermediate, and ventral domains. Previous work has indicated that endothelin targets, including the Dlx genes, homeotically pattern dorsal versus ventral PA identity. I show that the Dlx gene family plays a vital role in PA intermediate-domain identity establishment. In WT fish, the PA intermediate domain is delineated by combined expression of all Dlx genes. Reduction of Dlx gene function results in loss of intermediate-domain identity. Conversely, ventral expansion of Dlx expression, seen in hand2 mutants, results in ventral expansion of intermediate-domain identity. Hence, PA intermediate-domain identity is defined by co-expression of Dlx genes. Epithelial-mesenchymal interactions play an important part in PA intermediate-domain morphogenesis. Zebrafish fras1 (epithelially expressed) and itga8 (mesenchymally expressed) mutants also show specific defects within intermediate-domain skeleton and epithelia. Facial phenotypes in fras1;itga8 double mutants look extremely similar to either single mutant, suggesting that fras1 and itga8 might participate in the same epithelial-mesenchymal interaction during PA intermediate-domain formation. Our developmental studies reveal that fras1 - and itga8 -dependent epithelial segmentation of the PA intermediate domain stabilizes developing skeletal elements. Lesions in human FRAS1 underlie many cases of Fraser syndrome, and this work provides an excellent developmental model for the craniofacial defects found in Fraser syndrome. Loss of either Dlx or fras1 function produces defects in the PA intermediate domain, yet seemingly during different developmental periods. Nonetheless, combined reduction of both Dlx and fras1 function synergistically increases skeletal defects, implying a molecular connection between early (Dlx -mediated) pattern formation and later (fras1 -mediated) pattern stabilization. Elucidation of the Dlx-fras1 interaction is an interesting topic which may unveil new molecules pertinent to Fraser syndrome. Supplemental movies highlighting skeletal and epithelial morphogenesis accompany this dissertation. / Committee in charge: Judith S. Eisen, Chairperson; Charles B. Kimmel, Advisor; John H. Postlethwait, Member; Chris Q. Doe, Member; Kennith E. Prehoda, Outside Member

Objetivos: Investigar o efeito da cirurgia de retalho faríngeo (CRF) sobre as dimensões internas nasais de pacientes com insuficiência velofaríngea (IVF), a curto e longo prazo, e, correlacionar esses achados com o aparecimento de queixas respiratórias após a cirurgia. Modelo/Pacientes: Estudo prospectivo em 58 pacientes com fissura palatina operada e IVF, avaliados 2 dias antes (PRE) e, 5 (POS1) e 14 meses (POS2) após a cirurgia, em média, divididos em 2 grupos: um queixas respiratórias (CQ) em POS2 e outro, sem queixas (SQ). Diferenças entre grupos e etapas foram consideradas significantes ao nível de 5%. Local: Laboratório de Fisiologia, Hospital de Reabilitação de Anomalias Craniofaciais, USP, Bauru. Intervenções: CRF de pedículo superior. Variáveis: Queixas (respiração oral, ronco e dificuldade respiratória durante o sono) e área de secção transversa mínima nasal (AN) e nasofaríngea (ANF) avaliada por rinomanometria. Resultados: Queixas respiratórias foram observadas em 55% dos pacientes em POS1 e 36% em POS2. Observou-se na rinomanometria posterior: 1) redução significativa da AN média em POS1 e POS2, relativamente ao PRE, em ambos os grupos. Não foram observadas variações significativas na rinomanometria anterior; 2) AN média do grupo CQ significantemente menor que a do grupo SQ em POS2; 3) redução da AN mais pronunciada no grupo CQ. Medidas da ANF confirmaram esses achados. Conclusões: A curto prazo, a CRF levou à redução significativa da dimensão nasofaríngea em proporção expressiva de pacientes, parte dos quais passaram a apresentar queixas respiratórias; a longo prazo, esse efeito atenuou-se sem, contudo, desaparecer por completo. / Objectives: To investigate the short- and long-term effect of pharyngeal flap surgery (PFS) on the internal nasal dimensions of patients with velopharyngeal insufficiency (VPI) and to correlate the findings with the onset of respiratory complaints (RC) after surgery. Model/Patients: Prospective study in 58 patients with repaired cleft palate and VPI, evaluated, on average, 2 days before (PRE), 5 (POST1) and 14 months (POST2) after surgery, divided into 2 groups: one consisting of patients with RC (WRC) at POST2 and the other without RC (WtRC). Differences between groups and stages were considered to be significant at the 5% level. Site: Laboratory of Physiology, Hospital for Rehabilitation of Craniofacial Anomalies, Brazil. Interventions: Superiorly based PFS. Variables: RC (oral respiration, snoring and respiratory difficulty during sleep), and minimal nasal (NA) and nasopharyngeal (NPA) cross-sectional area assessed by rhinomanometry. Results: RC were observed in 55% of patients at POST1 and 36% at POST2. Posterior rhinomanometry showed: 1) a significant reduction of mean NA at POST1 and POST2 compared to PRE, in both groups. No significant changes were observed by anterior rhinomanometry; 2) significantly lower mean NA in the WC group compared to the WtC group at POST2; 3) more pronounced reduction in NA values in the WC group. NPA measurements confirmed these findings. Conclusions: In the short term, PFS led to a significant reduction in the nasopharyngeal dimensions in a significant proportion of patients, part of whom started to present RC; in the long term, this effect was attenuated but did not fully disappear.

<p>Post-operative sore throat is a common minor complication following general anaesthesia via endotracheal intubation. Pharyngeal packing has often been implicated in this minor anaesthetic complication. In maxillo-facial and oral surgery, two types of throat packs are commonly used namely ribbon gauze and tampons. In order to establish the efficacy of these two types of throat packs a prospective, randomised, clinical study was conducted. The objectives of the study were threefold: to investigate the effect of the two different types of throat packs on the incidence of post-operative sore throat, to determine the quality of seal provided by the two different types of throat packs and finally, to formulate a faculty protocol. The study consisted of 70 patients undergoing third molar surgery. All the patients were intubated via endotracheal intubation and had a throat pack placed. Patients were also randomly selected and allocated to two groups. One group had ribbon gauze while the other group had a tampon as a throat pack. The study reflected no statistically significant difference in the incidence of postoperative sore throat between the two groups. It was interesting to note that the symptoms of sore throat resolved quicker with the use of tampons. On the other hand, the ribbon gauze provided a better pharyngeal seal.</p>

<p>Post-operative sore throat is a common minor complication following general anaesthesia via endotracheal intubation. Pharyngeal packing has often been implicated in this minor anaesthetic complication. In maxillo-facial and oral surgery, two types of throat packs are commonly used namely ribbon gauze and tampons. In order to establish the efficacy of these two types of throat packs a prospective, randomised, clinical study was conducted. The objectives of the study were threefold: to investigate the effect of the two different types of throat packs on the incidence of post-operative sore throat, to determine the quality of seal provided by the two different types of throat packs and finally, to formulate a faculty protocol. The study consisted of 70 patients undergoing third molar surgery. All the patients were intubated via endotracheal intubation and had a throat pack placed. Patients were also randomly selected and allocated to two groups. One group had ribbon gauze while the other group had a tampon as a throat pack. The study reflected no statistically significant difference in the incidence of postoperative sore throat between the two groups. It was interesting to note that the symptoms of sore throat resolved quicker with the use of tampons. On the other hand, the ribbon gauze provided a better pharyngeal seal.</p>

Swallowing is a complex sensorimotor behaviour that includes precisely-timed bilateral activation and relaxation of muscles of the face, lips, tongue, cheeks, palate, larynx, pharynx and oesophagus. These events of activation and inhibition are controlled by many structures of the brain and are executed by cranial nerves that carry motor and sensory information to and from the swallowing muscles. Swallowing disorders are common sequelae of many neurological and structural disorders, including stroke, Parkinson’s disease, and head and neck cancer. Changes to swallowing physiology are also prevalent in older individuals, but these changes do not necessarily translate to dysphagia. Decreased muscle strength, changes to motor unit properties, and hypotrophic changes in skeletal muscles can result in age-related changes in swallowing physiology. In addition to muscular changes, neural changes might also change swallowing function in older subjects. The motor-learning literature presents a clear distinction between the differential applications and effects of skill- and strength-training approaches for rehabilitation of limb movement. In contrast to limb-movement rehabilitation, swallowing rehabilitation approaches consist mainly of strength training, although the pathophysiological basis for dysphagia is not always weakness. Therefore, this Phase I clinical-trial critically evaluated a unique swallowing skill training protocol in which the goal of intervention is to increase precision of motor control during swallowing. A Phase I clinical-trial was necessary to identify the appropriate protocol for inducing neurophysiological, biomechanical, and structural adaptations, to estimate effect sizes, and to identify adverse effects. The first and primary question addressed in this thesis was whether swallowing skill training would produce greater physiological effects in healthy subjects than a traditional swallowing strength training approach. In order to answer this question, three levels of assessment were included. Neurophysiological assessment consisted of delivering single-pulse transcranial magnetic stimulation (TMS) over the M1 area that sends efferent projections to the submental muscle group during a functional task of volitional saliva swallowing, and during a non-functional task of submental muscle group contraction. Biomechanical assessments consisted of pharyngeal and upper esophageal sphincter (UES) pressure measurements using pharyngeal manometry during effortful and non-effortful swallowing tasks, submental muscle activation measurements using surface electromyography (sEMG) during effortful and non-effortful swallowing tasks, and hyoid displacement using ultrasonography. Structural assessment consisted of measuring the cross sectional area of the submental muscle group. Finally, motor performance during training, and subjective ratings of the training protocols were assessed. Two skill training protocols were developed to assess the use of immediate versus delayed visual feedback in swallowing skill training. In addition, a pilot study aimed at examining the effects of increased dosage of training sessions was conducted. Forty healthy subjects (20 young, and 20 old; 20 females and 20 males) were allocated to skill and strength training groups in a counterbalanced manner. Strength training consisted of execution of the effortful swallowing technique targeting increased demand for strength. Skill training targeted precise timing and force execution during swallowing execution. Several motor-learning principles were considered in devising the training protocols, including the principles of task specificity and high intensity of training. Biofeedback was included to promote motor learning. Since the submental muscle group plays an important role in hyolaryngeal excursion, the current study utilized submental sEMG biofeedback using custom-made training software. The training protocols consisted of 1000 repetition of swallowing over a 2-week period. Subjects trained for an hour, five days a week, for 2 weeks (i.e., 10 training sessions). The extended dosage protocol included 10 subjects and comprised an additional eight sessions. The results indicated that there was a significant difference in submental activation following training, with strength training having an increase in sEMG peak amplitude in comparison to skill training. There were no other differences between groups at the 5% error level. Patterns of change were revealed when marginally significant results (0.05 < p ≤ 0.10) were investigated as well. Strength training resulted in a trend towards increased neural drive for volitional effortful-type tasks (i.e., effortful saliva swallowing, effortful water swallowing, and submental muscle contraction) as indicated by increased MEP magnitude (p = 0.07) which was consistent with significantly increased peak amplitude of submental activity measures (p < 0.001). This finding supports the task specificity principle of motor learning. Skill training resulted in no changes in MEP magnitude. There was a trend (p = 0.06) towards increased submental muscles activity during functional swallowing tasks (i.e., non-effortful swallowing) in young subjects,. Males in skill training had decreased duration of UES opening in 10 mL water effortful swallowing task (p = 0.02), a trend towards increased UES pressure in non-effortful saliva swallowing task (p = 0.07), and reduced hyoid displacement following training (p < 0.001). Changes in pharyngeal pressures were detected for skill training with delayed visual feedback that resulted in decreased pressure at mid-pharynx in effortful and non-effortful tasks (p < 0.05). No difference in submental CSA changes was detected in either training group. Both groups improved motor performance measured by data collected during the session (target hit-rate and muscle activity). The results of the pilot study that examined the effects of an extended dosage of training were difficult to interpret due to the small sample size. However, there were significant and marginally significant effects of skill training on mid-pharyngeal and UES pressure duration events. Dysphagia is common in patients with Parkinson’s disease, but no specific training programme exists for these patients, leading to the second question addressed through this research. Since movement planning is compromised due to dysfunction of the basal ganglia, providing external information for planning and executing swallowing was hypothesized to alleviate dysphagic symptoms. Ten subjects were recruited. Swallowing skill training with immediate feedback was administered for one hour every day, five days a week, for 2 weeks, similar to the training dosage and frequency in the healthy group. Biomechanical and structural changes were assessed. Swallowing skill training with immediate feedback led to an increase in submental activity in effortful swallowing tasks but not non-effortful tasks. In addition, it was found that individuals with dysphagia secondary to Parkinson’s disease have deceased submental muscle reserve relative to healthy subjects. Preliminary analysis of MEP data led to exploration of submental MEP measures between younger and older subjects. This ‘discovery’ research shed light on the third topic addressed in this thesis. There are contradicting results in the literature regarding age-related brain activity during swallowing. Since submental MEPs were included as an outcome measure in the main study, it was important to evaluate them at baseline in order to understand and interpret changes in this measure. Unlike other measures, such as pharyngeal pressure and hyoid displacement that have been documented in the literature to change with age, no similar study has been conducted to assess for differences in swallowing-related MEPs. Baseline data from the main study were analysed. Older subjects produced larger MEP magnitude in comparison to young in volitional saliva swallowing and volitional submental contraction. This finding raised some questions regarding the use of MEPs as an outcome measure, since it is not clear what constitutes a ‘positive’ change. This study documented, for the first time, the application of skill training in swallowing in a healthy and dysphagic population. Positive effects of treatment were found in the dysphagic group; an indication of negative effects was identified in the healthy group. In addition, this is the first study to compare skill to strength training in swallowing. The only significant difference between the two was significantly greater submental activation in effortful swallowing tasks following strength training in comparison to skill training; although there were some significant interactions between age and training type and gender and training type. This project represents the first Phase I clinical-trial of an innovative approach for addressing swallowing impairments. Achieving the ultimate aim of finding the most appropriate training protocol for treating individuals with a specific pathophysiological basis of dysphagia, requires the implementation of a long-term on-going research programme characterized by a staged process. This research programme sets an initial reference framework from which further projects can estimate the sample size required to answer specific questions, control for effects of age and gender and their interaction with training, increase precision in choosing assessment tools, and test new specific questions.

The Gastroesophageal Reflux Disease (GERD) and the symptoms of the Pharyngeal Bolus can make the subject show complaints of impairments of swallowing. The goal of this study was to analyze the dynamics of swallowing in subjects that showed GERD and/or Pharyngeal Bolus through videofluoroscopy in young adults and old people. The reports of 34 subjects between 18 and 85 years old from both genders from the Radiology and Image Service of the Gastroenterological Institute of São Paulo were analyzed and categorized in groups: G1 - with GERD; G2 - with Pharyngeal Bolus; G3 - with Pharyngeal Bolus and GERD; and in sub-groups GA - elderly and GB - adults, with an average age of 74.9 and 43.8 years respectively, in order to study if the effects of ageing would represent an impact on the swallowing physiology. The analyses of the characteristics of the oral an pharyngeal phases of swallowing were carried out in percentages through the spreadsheets and based on the Ott et al. scales, (1996) to the oropharyngeal swallowing dysphagia, in slight, moderate and severe dysphagia -, and based on the Martin-Harris et al. scale, (2007) to the pharyngeal swallowing. The analysis of the pharyngeal phase was realized on the percentages of the most evident characteristics and also with the examination of the statistics of dependant variables. The chi-square test was used, with the level of significance p < 0,05 among the groups, so as to analyze a possible association among the variables. The results showed delay in the control and transportation of the food bolus and intraoral stasis with higher percentage on G3 and in tongue base on G2. There was a predominance of early pharyngeal swallowing in vallecula and piriform recesses in all groups. The laryngeal penetration occurred in all groups, but the incidence was higher in G1 and 1 subject breathed. The cleaning maneuvers were performed in all of them, with the most evident DS in higher levels to the pudding consistency. The harshness degree ranged from normal swallowing to slight dysphagia for all. The study of the relations among the characteristics of the pharyngeal phase presented significant results (p < 0,05) to the relation of the variables beginning of pharyngeal swallowing with laryngeal penetration and the beginning place of the pharyngeal swallowing with the harshness degree of the oropharyngeal dysphagia in young adults. / A Doença do Refluxo Gastroesofageano (DRGE) e o sintoma do Glóbus Faríngeo podem levar o sujeito a apresentar queixas de distúrbios da deglutição. O objetivo do estudo foi analisar a dinâmica da deglutição em sujeitos que apresentaram DRGE e / ou Glóbus Faríngeo por meio da videofluoroscopia em adultos jovens e idosos. Foram interpretados laudos de 34 sujeitos com idade entre 18 e 85 anos, de ambos os sexos, do Serviço de Radiologia e Imagem do Instituto Gastroenterológico de São Paulo, caracterizados como: G1 - Grupo com DRGE; G2 - Grupo com Glóbus Faríngeo; G3 - Grupo com Glóbus Faríngeo e DRGE; e criados os subgrupos GA adultos idosos e GB - adultos jovens com média de idade de 74,9 e 43,8 anos respectivamente, para estudar se os efeitos da idade apresentariam impacto na fisiologia da deglutição. As análises das características das fases oral e faríngea da deglutição foram realizadas em percentuais através de planilhas e baseadas nas escalas de Ott et al. (1996) para disfagias orofaríngeas em disfagia leve, moderada e grave e na escala de Martin-Harris et al. (2007) para a deglutição faríngea. A análise da fase faríngea foi realizada diante dos percentuais das características de maior evidência e analisada a estatística de variáveis dependentes. Foi utilizado o teste Qui - quadrado, com nível de significância p < 0,05 nos grupos, para avaliar possível associação entre as variáveis. Os resultados mostraram atraso no controle e transporte do bolo alimentar e estase intraoral com maior percentual no G3 e em base de língua para o G2. Houve predomínio de início de deglutição faríngea em valécula e recessos piriformes para todos os grupos. A penetração laríngea ocorreu em todos grupos, mas a maior incidência foi em G1. Nas manobras de limpeza a deglutição seca apresentou maior evidência em níveis mais elevados para a consistência pudim. O grau de severidade variou entre deglutição normal e disfagia leve para todos os grupos estudados. O estudo da relação entre as características da fase faríngea apresentou resultados significativos (p < 0,05) para a relação das variáveis início de deglutição faríngea com penetração laríngea e com grau de severidade das disfagias orofaríngeas para todos os grupos.

Objetivos: Investigar o efeito da cirurgia de retalho faríngeo (CRF) sobre as dimensões internas nasais de pacientes com insuficiência velofaríngea (IVF), a curto e longo prazo, e, correlacionar esses achados com o aparecimento de queixas respiratórias após a cirurgia. Modelo/Pacientes: Estudo prospectivo em 58 pacientes com fissura palatina operada e IVF, avaliados 2 dias antes (PRE) e, 5 (POS1) e 14 meses (POS2) após a cirurgia, em média, divididos em 2 grupos: um queixas respiratórias (CQ) em POS2 e outro, sem queixas (SQ). Diferenças entre grupos e etapas foram consideradas significantes ao nível de 5%. Local: Laboratório de Fisiologia, Hospital de Reabilitação de Anomalias Craniofaciais, USP, Bauru. Intervenções: CRF de pedículo superior. Variáveis: Queixas (respiração oral, ronco e dificuldade respiratória durante o sono) e área de secção transversa mínima nasal (AN) e nasofaríngea (ANF) avaliada por rinomanometria. Resultados: Queixas respiratórias foram observadas em 55% dos pacientes em POS1 e 36% em POS2. Observou-se na rinomanometria posterior: 1) redução significativa da AN média em POS1 e POS2, relativamente ao PRE, em ambos os grupos. Não foram observadas variações significativas na rinomanometria anterior; 2) AN média do grupo CQ significantemente menor que a do grupo SQ em POS2; 3) redução da AN mais pronunciada no grupo CQ. Medidas da ANF confirmaram esses achados. Conclusões: A curto prazo, a CRF levou à redução significativa da dimensão nasofaríngea em proporção expressiva de pacientes, parte dos quais passaram a apresentar queixas respiratórias; a longo prazo, esse efeito atenuou-se sem, contudo, desaparecer por completo. / Objectives: To investigate the short- and long-term effect of pharyngeal flap surgery (PFS) on the internal nasal dimensions of patients with velopharyngeal insufficiency (VPI) and to correlate the findings with the onset of respiratory complaints (RC) after surgery. Model/Patients: Prospective study in 58 patients with repaired cleft palate and VPI, evaluated, on average, 2 days before (PRE), 5 (POST1) and 14 months (POST2) after surgery, divided into 2 groups: one consisting of patients with RC (WRC) at POST2 and the other without RC (WtRC). Differences between groups and stages were considered to be significant at the 5% level. Site: Laboratory of Physiology, Hospital for Rehabilitation of Craniofacial Anomalies, Brazil. Interventions: Superiorly based PFS. Variables: RC (oral respiration, snoring and respiratory difficulty during sleep), and minimal nasal (NA) and nasopharyngeal (NPA) cross-sectional area assessed by rhinomanometry. Results: RC were observed in 55% of patients at POST1 and 36% at POST2. Posterior rhinomanometry showed: 1) a significant reduction of mean NA at POST1 and POST2 compared to PRE, in both groups. No significant changes were observed by anterior rhinomanometry; 2) significantly lower mean NA in the WC group compared to the WtC group at POST2; 3) more pronounced reduction in NA values in the WC group. NPA measurements confirmed these findings. Conclusions: In the short term, PFS led to a significant reduction in the nasopharyngeal dimensions in a significant proportion of patients, part of whom started to present RC; in the long term, this effect was attenuated but did not fully disappear.

Introdução: Existem evidências clínicas que o obturador faríngeo pode estimular a formação do anel de Passavant em alguns indivíduos com disfunção velofaríngea decorrente de fissura palatina, o que os tornariam melhores candidatos para correção cirúrgica dessa disfunção, ou mesmo para obterem melhores resultados com o uso do obturador faríngeo. Objetivo: O presente estudo teve por objetivo investigar a ocorrência do anel de Passavant em pacientes com fissura de palato, usuários de OF, nas seguintes condições: antes da confecção do OF (condição C1), durante a moldagem do obturador faríngeo (condição C2) e após seis meses de uso do mesmo (condição C3, sem o obturador e condição C4, com o obturador). Material e Método: A casuística deste trabalho foi composta por 25 pacientes (15 homens e 10 mulheres), com idades variando entre 18 e 59 anos (média= 32 anos). Todos os pacientes apresentavam disfunção velofaríngea após a cirurgia de palato e utilizavam obturador faríngeo havia pelo menos 6 meses. Para a avaliação do mecanismo velofaríngeo com e sem o obturador faríngeo, todos os pacientes haviam sido submetidos à avaliação nasoendoscópica durante fala. As 75 gravações dessa avaliação, 25 na condição C1, 25 na condição C2 e 25 nas condições C3 e C4, dos 25 pacientes foram editadas em um DVD e avaliadas por cinco fonoaudiólogas experientes, designadas juízas, quanto aos seguintes aspectos: a) posição do nasoendoscópio durante o exame; b) tamanho do bulbo faríngeo em relação ao espaço velofaríngeo; c) ocorrência de anel de Passavant; d) intercorrências que pudessem comprometer a visualização das paredes da faringe. Os protocolos de anotações utilizados pelas juízas foram baseados e adaptados do proposto por Golding-Kushner et al. (1990). Resultados: O grau médio de concordância intra-juízas para todos os aspectos avaliados foi considerado quase perfeito (83%) e o de concordância inter-juízas variou de regular (35%) a quase perfeito (100%). As avaliações foram comparadas entre si, nas quatro condições, para todos os aspectos avaliados. A única comparação que foi estatisticamente significante foi aquela que comparou os dados obtidos na avaliação da ocorrência do anel de Passavant entre as condições C2 e C4. Os dados revelaram que 14 (56%) pacientes apresentaram mudança na ocorrência do anel em uma ou mais das condições avaliadas e 11 (44%) não apresentaram mudança. Conclusão: Os achados deste estudo permitem concluir que o obturador faríngeo pode agir como um agente estimulador da formação do anel de Passavant em pacientes com disfunção velofaríngea decorrente de fissura palatina. / Background: Clinical evidence shows that pharyngeal obturator can stimulate Passavant´s pad formation in subjects with VPI current from cleft palate. It puts those subjects as better candidates for VPI treatment either surgical correction or pharyngeal obturator. Aim: The present study aimed to investigate Passavant´s pad occurrence in cleft palate subjects, who wore pharyngeal obturators, in the following conditions: before pharyngeal obturator´s confection (condition C1), during pharyngeal obturator molding (condition C2) and after six months wearing the pharyngeal obturator (condition C3, without the pharyngeal obturator and condition C4 with the pharyngeal obturator). Method: The sample was composed by 25 subjects (15 male and 10 female), age range between 18 - 59 years (range = 32 years). All patients had VPI current cleft palate surgery and were pharyngeal obturator wearers for at least six months. All subjects were submitted to nasoendoscopy evaluation during speech, with and without the pharyngeal obturator. The 75 recordings, 25 during condition C1, 25 during C2 and 25 during C3 and C4, were edited in a DVD and rated by five experienced speech pathologists, named judges. The judges had to rate the following aspects: a) nasoendoscope position during the exam; b) pharyngeal obturator size, according velopharyngeal space; c) Passavant´s pad occurrence; d) intercurrences that compromise pharyngeal walls observation. The judge´s rating protocols were based and adapted from the one proposed by Golding-Kushner et al. (1990). Results: Intra judge agreement for every rated aspect was considered, in range, almost perfect (83%), and the inter-judge agreement varied between regular (35%) and almost perfect (100%). The ratings were compared to each other, in every conditions, for all analyzed aspects. The only statistical significant comparison was in Passavant´s pad occurrence, between conditions C2 and C4. Data revealed that the Passavant´s pad occurrence varied, in one o more conditions, in 14 (56%) subjects and, in 11(44%) didn´t show any change. Conclusion: Findings allow us to conclude that, the pharyngeal obturator may act as a stimulus factor for Passavant´s pad formation in patients with VPI current from cleft palate.