Objetivo: Identificar a frequência das fístulas após a palatoplastia primária dos pacientes com fissura transforame unilateral do Estudo Clínico Randomizado (ECR) - Projeto Flórida (PF), de acordo com dados registrados pelos profissionais de Cirurgia plástica (CP) e Fonoaudiologia (FGA); descrever a terminologia utilizada pelos profissionais ao reportar a localização das fístulas e descrever o tamanho, a sintomatologia e o gerenciamento destas complicações; e verificar a concordância entre as áreas da CP e FGA quanto às informações sobre presença e localização das fístulas em relação ao forame incisivo (pré ou pós-forame incisivo). Métodos: Foram analisados 466 prontuários de pacientes com fissura transforame unilateral não sindrômica e operada. Os dados quanto a presença de fístula, a localização, o tamanho e a sintomatologia, foram compilados e analisados, de modo descritivo, em duas janelas de tempo. O primeiro tempo abrangeu todos os registros datados até três anos após a realização da palatoplastia primária e o segundo tempo abrangeu os registros durante e após a expansão rápida da maxila (ERM). Comparou-se os achados com uma classificação Padrão Ouro das fístulas no ECR-PF, verificando o nível de concordância entre as informações registradas pela CP e FGA (Estatística Kappa). Resultados: A área da CP reportou um total de 117 (25,1%) fístulas, enquanto a FGA reportou 171 (36,7%), comparados às 164 (35,2%) fístulas identificadas na classificação Padrão Ouro. Combinando as duas áreas, obteve-se um total de 184 (39,5%) casos de fístulas, sendo que 104 (56,5%) foram registradas por ambas as áreas, 67 (36,4%) foram identificadas apenas nas documentações da FGA e 13 (7,1%) somente nos registros da CP. Quanto ao tamanho, dos 104 casos com esta informação, a maioria foi classificada como fístula de tamanho pequeno (N=50; 48%). A sintomatologia mais reportada nos 184 casos foi o refluxo nasal de alimentos em 125 (68%), seguido do escape de ar nasal em 62 (33,6%) e hipernasalidade em 56 (30,4%). Durante a análise do segundo tempo deste estudo (ERM), observou-se um total de 50 (14%) casos de fístulas em 359 pacientes que realizaram esse tratamento ortopédico, sendo que 39 (78%) destas fístulas foram localizadas em região pré-forame incisivo. Quanto ao tamanho, a maioria foi classificada como fístula de tamanho pequeno (N=25; 50%) e a sintomatologia mais encontrada foi o escape de ar nasal em 29 (58%). Tanto no primeiro, quanto no segundo tempo de análise, observou-se o uso de terminologia variada entre as duas áreas, aspecto este que dificultou a classificação da localização das fístulas em relação forame incisivo. Obteve-se uma concordância moderada entre a classificação Padrão Ouro e os dados reportados no prontuário pelo CP (Kappa = 0,32) e uma concordância substancial entre a classificação Padrão Ouro e os dados reportados no prontuário pela FGA (Kappa = 0,63). Conclusão: Com base no levantamento dos registros cirúrgicos e fonoaudiológicos, os dados encontrados indicaram uma concordância moderada e substancial entre as áreas em relação ao Padrão Ouro. Dessa forma, fica claro a necessidade de se estabelecer e validar um protocolo para a utilização em rotina clínica e multiprofissional. / Purpose: To identify the frequency of fistulas after primary palatoplasty of patients with unilateral cleft lip and palate at a Randomized Clinical Trial (RCT) - Florida Project (FP), according to the data registered in patients records by the areas of Plastic surgery (PS) and Speech-language pathology (SLP); to describe the terminology used by this professionals to record the location of the fistulas, as well as to describe the size, symptoms and management of these complications; and to verify the agreement between the areas of PS and SLP regarding the presence and location of fistula in relation with the incisive foramen (pre- or post-foramen). Methods: A total of 466 medical records of patients with unilateral, nonsyndromic and operated cleft lip and palate were analyzed. The data about presence of fistula, location, size and symptoms, were compiled and analyzed descriptively considering two time-windows regarding the primary palatoplasty. The first window included all data registered up to three years after the primary palatoplasty, and the second window included data registered during and after rapid maxillary expansion (RME). The findings were compared to a Gold Standard classification of fistula from the RCT, with the verification of the level of agreement (Kappa Statistics) between the information recorded by the two areas. Results: A total of 117 (25,1%) fistulas were reported by the PS while 171 (36,7%) were reported by the SLP area compared to 164 (35,2%) fistulas identified with the RCT-Gold Standard classification. A total of 184 (39,5%) cases of fistula was indicated, and 104 (56,5%) were recorded in both areas, 67 (36,4%) were recorded only in the SP and 13 (7,1%) were identified only in CP records. Considering the 104 cases with information regarding fistula size, most were classified as small (N=50, 48%). The most common symptom reported for the 184 cases with fistula was nasal regurgitation in 125 cases (68%), followed by nasal air escape in 62 (33,6%) and hypernasality in 56 (30,4%). A total of 50 (14%) fistulas were identified for the 359 patients who received rapid maxillary expansion (RME), and 39 (78,0%) fistulas were located prior to the incisive foramen. The most of fistulas were classified as small (N=25, 50%) and the most common symptom reported was nasal air escape in 29 cases (58%). On the first and second time-window, a large variation was found regarding terminology used by both areas to refer to fistula, making it very difficult to classify the location regarding to the incisive foramen. The agreement between the Gold Standard classification of fistula and the findings reported by the PS was moderate (Kappa = 0,32) while it was substantial for the SLP (Kappa = 0,63). Conclusion: Based on the survey of surgical and speech records, the data found indicated a moderate and substantial agreement between the findings regarding fistula occurrence reported by the areas of PS and SLP when compared to the Gold Standard classification for the RCT-FP. Thereby, it is clear the need to establish and validate a protocol for use in clinical and multidisciplinary routine.

Objetivo: Registrar em incisivos centrais e primeiros molares superiores e inferiores permanentes de pacientes com fissura de lábio e/ou palato e sem fissura a prevalência de defeitos de esmalte e sua relação com a fissura. Modelo: Estudo transversal. Local de execução: Setor de Odontopediatria do Hospital de Reabilitação de Anomalias Craniofaciais - Universidade de São Paulo (HRAC-USP), Bauru/SP ? Brasil e na Escola Estadual, Agudos/SP ? Brasil. Participantes: 100 pacientes, regularmente matriculados no HRAC-USP, sendo 50 com fissura de lábio e palato e 50 com fissura isolada de palato e 50 pacientes sem fissura pertencentes à Escola Estadual-Agudos, de ambos os sexos, de 6 a 12 anos. Metodologia: A freqüência, a extensão e a localização das alterações de esmalte na face vestibular dos dentes foram avaliadas clinicamente, segundo o índice DDE modificado, após teste intra-examinador. Resultados: Existiu maior manifestação dos defeitos de esmalte em incisivos e molares superiores nos grupos com fissuras, com significado estatístico, quando comparados ao grupo NF. Os terços médio e cervical dos incisivos superiores nos grupos com fissura envolvendo o alvéolo, principalmente no dente do lado fissurado e os terços incisal e médio nos grupos com FP e NF foram os mais acometidos; nos incisivos inferiores e molares superiores os defeitos ocorreram mais nos três terços dentários avaliados e no molares inferiores nos terços oclusal e médio para os grupos com FP e FLP. A opacidade apresentou a maior ocorrência em todos os grupos estudados. Conclusões: Os resultados mostraram que a ocorrência de defeitos do esmalte foi comum nos incisivos e molares permanentes estudados e sua relação com a fissura é um fator clínico importante que deve ser considerado. / Objective: To record the enamel defects on permanent maxillary and mandibular central incisors and first molars of patients with cleft lip and/or palate and without cleft for detect the prevalence of the development of defects and their cleft relation. Design: Cross-sectional. Setting: Pediatric Dentistry sector, HRAC-USP and School-Agudos/SP. Participants: 100 patients registered at HRAC-USP, of which 50 with cleft lip and palate and 50 patients with cleft palate and 50 without cleft student at School-Agudos, of both genders, aged 6 to 12 years. Methods: The frequency, extent and location of enamel alterations on the buccal aspect of teeth were evaluated by the modified DDE index, after evaluation of intra-examiner agreement. Results: There was a higher demonstration of enamel defects in maxillary incisors and molars in group with cleft, with result statistically significant when was compared with group without cleft. The middle and cervical thirds of maxillary incisors on the group with complete cleft mainly of the teeth cleft side and incisal and middle thirds most affected in group cleft palate and group without cleft; the larger prevalence of enamel defects in mandibular incisors and maxillary molars was observed in three thirds of teeth and oclusal and middle thirds for mandibular molars the patients with cleft palate and cleft lip and palate. Enamel opacity was observed with greater prevalence in all studed groups. Conclusions: Results show that the occurrence of enamel defects is common in studed permanents incisor and molars and its association with cleft is an important clinical factor to be considered.

Objetivos: Caracterizar o perfil dos indivíduos com fissura labiopalatina e deficiência auditiva, adaptados com AASI, pela Divisão de Saúde Auditiva (DSA), HRAC/USP, Bauru e avaliar a efetividade e a satisfação da adaptação do AASI na amostra selecionada. Modelo: Análise dos prontuários, avaliação da efetividade do AASI pelo levantamento das características eletroacústicas, medidas com microfone sonda e teste de reconhecimento de sentenças no silêncio e no ruído e avaliação da satisfação pelo questionário QI-AASI. Local: Setor de AASI da DSA. Participantes: Para a caracterização do perfil, foram analisados os prontuários de 131 indivíduos e, destes, selecionados 8 com fissura labiopalatina, sem alterações associadas, deficiência auditiva condutiva e/ou mista e assíduos ao acompanhamento. Resultados: O perfil geral (n=131) caracterizou-se pela predominância de fissura transforame incisivo unilateral (27%), histórico de alterações de orelha média (56%) e intervenção cirúrgica (56%). Na amostra selecionada (n=8), a efetividade do AASI foi comprovada pelo melhor desempenho obtido com o aparelho, em comparação com as respostas sem ele, na avaliação proposta. A satisfação foi confirmada pelos escores elevados do questionário. Conclusões: O perfil geral dos indivíduos com fissura labiopalatina e deficiência auditiva, adaptados com AASI, caracterizou-se pela predominância do sexo masculino, fissura transforame incisivo unilateral, histórico positivo de alteração de orelha média, intervenção cirúrgica e deficiência auditiva sensorioneural bilateral de grau leve a profundo. Foi comprovada a efetividade e satisfação do AASI para os indivíduos com fissura labiopalatina e deficiência auditiva condutiva e/ou mista participantes deste estudo. É importante considerar a adaptação de AASI como alternativa para o tratamento desses indivíduos. / Aim: To characterize the profile and to assess efficacy and satisfaction of individuals with cleft palate and hearing loss that were hearing aids fitted at Divisão de Saúde Auditiva (DSA), Hospital de Reabilitação de Anomalias Craniofaciais, Universidade de São Paulo, Bauru. Model: Analysis of patients? files, assessment of the hearing aid efficacy by raising the electroacoustic characteristics, measurements with a probe tube and test of recognition of sentences in silence and noise and assessment of the satisfaction by questionnaire International Outcome Inventory for Hearing Aids. Local: Hearing aid division of the DSA. Participants: For the characterization of the profile, 131 files were analyzed from which 8 were selected with cleft palate, without associated alterations, conductive and/or mixed hearing loss, and assiduous to routine appointments. Results: The general profile (n=131) was characterized by the prevalence of the unilateral incisive transforamen cleft (27%), history of alterations of the middle ear (56%) and surgery intervention (56%). In the selected sample (n=8), the efficacy of the hearing aid was demonstrated by the better performance obtained with the hearing aid in comparison with those not using it in the proposed evaluation. The satisfaction was confirmed by the questionnaire elevated scores. Conclusions: The general profile of the individuals with cleft palate and hearing loss, adapted with hearing aid, was characterized by male predominance, unilateral incisive transforamen cleft, positive history of alteration of the middle ear, surgery intervention and moderate to profound bilateral sensorioneural hearing loss. It was possible to demonstrate the efficacy and satisfaction of the individuals with cleft palate and conductive and/or mixed hearing loss who participated in this work. It is important to consider the hearing aid fitting as an alternative to the treatment of such individuals.

Orientador: Vera Lucia Gil da Silva Lopes / Tese (doutorado) - Universidade Estadual de Campinas, Faculdade de Ciências Médicas / Made available in DSpace on 2018-08-20T04:54:42Z (GMT). No. of bitstreams: 1 Vieira_TarsisAntonioPaiva_D.pdf: 3309313 bytes, checksum: 6d4805118bd5c929446b40064e1263b2 (MD5) Previous issue date: 2012 / Resumo: A aplicação de modernos conhecimentos sobre causa, efeito e métodos diagnósticos de doenças genéticas para cuidados de saúde é bastante complexa, especialmente no Brasil onde o sistema de saúde é predominantemente público. A síndrome de deleção 22q11.2 (S. Del 22q11.2) é a condição geneticamente determinada mais comum em indivíduos com anomalias palatais, com prevalência de 1/4.000 nascimentos. Considerando esta prevalência, as características do sistema de saúde e da atenção em genética no Brasil, o principal objetivo deste estudo foi realizar estudo multicêntrico para diagnóstico da S. Del 22q11.2 como modelo para otimização de estratégias diagnósticas em genética médica. Para isso, verificou-se a disponibilidade do diagnóstico laboratorial da S. Del 22q11.2 em 11 serviços de genética de diferentes regiões do país, e este foi centralizado nos Laboratórios de Citogenética Humana e Genética Molecular da FCM/UNICAMP por 30 meses. Foram estudados 100 pacientes (48M:52F) e as técnicas utilizadas foram FISH (Fluorescence in situ Hibridization) e MLPA (Multiplex Ligation-dependent Probe Amplification). Disponibilidade anterior e temporária do diagnóstico laboratorial de deleção em 22q11, vinculada a projetos de pesquisa, foi informada por sete instituições, sendo detectada desigualdade regional. Microdeleção em 22q11 foi identificada em 35% dos pacientes e aberrações cromossômicas não envolvendo a região 22q11 foram detectadas em três casos, obtendo-se conclusão diagnóstica em 38% dos casos. Encontrou-se diferença estatisticamente significativa para alguns sinais clínicos apresentados entre os pacientes com e sem deleção. As técnicas de FISH e MLPA mostraram 100% de sensibilidade e especificidade. Considerando a infraestrutura necessária e a adaptação da técnica de FISH, que permitiu reduzir a quantidade de sonda utilizada, esta foi eficaz, mais econômica e mais rápida em comparação a MLPA. A investigação centralizada mostrou-se vantajosa. Aponta-se o modelo estabelecido como uma estratégia importante e factível para o Brasil. Os resultados deste estudo propiciaram reflexões que culminaram em sugestões para o incremento desta abordagem para esta e outras condições geneticamente determinadas em nosso país / Abstract: The introduction of new technologies of molecular diagnosis for health care has been a challenge in the last years, especially in Brazil, where the majority of the population is served by the public health system. The 22q11.1 deletion syndrome is the most common syndrome that has palatal anomalies as a major feature, with a prevalence of 1/4000 births. Considering this prevalence, the Brazilian health system characteristics and the current situation of medical and clinical genetic services in the country, the main aim of this study was to conduct a multicenter study for 22q11.2 deletion diagnosis as a model for the optimization of diagnostic strategies in medical genetics. We investigated the access to laboratorial diagnosis of 22q11.2 deletion at 11 genetic services and centralized this diagnosis for 100 patients with palatal abnormalities and suspicion of 22q11.2 deletion syndrome, referred from these centers during 30 months, at the Cytogenetics and Molecular biology laboratories of the FCM/UNICAMP. To detect 22q11 deletions FISH (Fluorescence in situ Hibridization) and MLPA (Multiplex Ligation-dependent Probe Amplification) techniques were used. Previous and temporary availability for the diagnosis of 22q11 deletion, associated with research projects, was informed by seven centers, with remarkable geographic disparities. We detected 22q11 deletion in 35% of the patients, and chromosome abnormalities not related to 22q11 region in three patients; thus we reached diagnostic conclusion in 38% of the cases. There was significant difference between some clinical signs found in patients with or without 22q11 deletion. There was 100% of sensibility and specificity for both MLPA and FISH techniques. Considering the required infrastructure and the modifications in the FISH (allowing to reduce probe quantity), this technique was efficient, more economical and faster than MLPA. Centralizing the laboratorial diagnosis was considered advantageous, pointing to this model as an important and feasible strategy for genetic diagnosis in Brazil. These results allowed to suggestions for the improvement of laboratorial diagnosis of this and other genetic conditions in our country / Doutorado / Ciencias Biomedicas / Doutor em Ciências Médicas

Abstract Children born with a cleft lip and or palate face numerous difficulties during the course of their lives. Their families must respond to the challenge of a high level of burden of care required by these patients. The studies listed in this thesis benchmark the characteristics of cleft lip and palate in a cohort of patients living in Northern Finland. These studies strived to consider epidemiologic aspects, speech results, palatal fistula rates and hearing outcome. Records of a total of 214 patients treated between 1998-2011 at the Oulu Cleft Lip and Palate Center were assessed on a retrospective basis. Cleft palate (68.7%) was most frequent followed by cleft lip and palate (18.7%) and cleft lip with or without alveolus (12.6%). Cleft palate occurred more frequently in females (63%) and cleft lip and palate was more frequent in males (62.5%) most commonly affecting the left side (82%). The overall frequency of speech operations following primary palatoplasty was 21%. This was significantly higher for girls (27%) than for boys (13%). Patients with cleft lip and palate were more likely to require speech improvement surgery (24%) than patients with isolated soft or soft and hard palate clefts (20%). The overall frequency of postoperative fistulas following primary palatoplasty was (9.6%). Patients with cleft lip and palate were more likely to develop postoperative palatal fistulas (20%) than patients with cleft palate (6.6%). The severity of the cleft, the surgical technique used to repair the palate, hearing outcome, and the need for ventilation tube placement were determined retrospectively. At least mild hearing loss was found in 3.3% of cleft patients. Neither the surgical technique used to repair the cleft palate nor the severity of the cleft were found to be significant factors related to hearing loss or to the number of ventilation tubes required. Hearing improved significantly with increasing age over a span of 6 years. / Tiivistelmä Halkiopotilaat kohtaavat elämänsä aikana monenlaisia haasteita samoin kuin heidän vanhempansa. Tämä retrospektiivinen tutkimus esittelee huuli- ja suulakihalkiopotilaisiin liittyviä näkökohtia Pohjois-Suomen alueella käsitellen epidemiologiaa, puheenparannusleikkauksen tarvetta, postoperatiivisten fisteleiden määrää sekä kuulotuloksia. Tutkimusmateriaali koostui 214 halkiopotilaasta, jotka olivat hoidossa Oulun yliopistollisessa sairaalassa vuosina 1998–2011. Tutkimusaineistossa suulakihalkio (68.7 %) oli yleisin halkiotyyppi, huulisuulakihalkio (18.7 %) oli toiseksi yleisin ja huulihalkioita oli vähiten (12.6 %). Suulakihalkio todettiin useammin tytöillä (63 %) ja huulisuulakihalkio (62.5 %) pojilla. Huulisuulakihalkio oli useimmiten vasemmalla puolella (82 %). Puheenparannusleikkauksen tarvitsi 21 % suulakihalkiopotilaista. Leikkauksen tarve oli merkittävästi yleisempi tytöillä (27 %) kuin pojilla (13 %). Huulisuulakihalkiopotilaat (24 %) tarvitsivat puheenparannusleikkausta todennäköisemmin kuin potilaat, joilla oli pehmeän tai kovan suulaen halkio (20 %). Suulaen primaarisulun jälkeen postoperatiivisten fisteleiden ilmaantuvuus oli 9.6 %. Huulisuulakihalkiopotilaille kehittyi todennäköisemmin postoperatiivinen fisteli (20 %) kuin suulakihalkiopotilaille (6.6 %). Suulakihalkion vaikeusaste, suulaen kirurginen sulkutekniikka, kuulotulos sekä välikorvan ilmastointiputkien laitto selvitettiin potilastiedoista. Vähintään vähäinen kuulonalenema todettiin 3.3 prosentilla halkiopotilaista. Sulkutekniikan eikä halkion vaikeusasteen todettu merkittävästi vaikuttavan kuulonalenemaan tai välikorvan ilmastointiputkien laittotiheyteen. Kuulon todettiin paranevan iän myötä.

In dieser Grundlagenstudie wird evaluiert wie präzise 3D-Gesichtsaufnahmen eines Patientenkollektivs mit einer Lippen-, Kiefer-, Gaumenspalte mit dem 3D-Bildaufnahmesystem Vectra M3 (Canfield) und der Analysesoftware Facial Analysis Tool (FAT), entwickelt in der Abteilung MKG der Universität Leipzig, analysiert werden können. Im ersten Studienabschnitt werden 3D-Gesichtsaufnahmen von 3 Patienten und einem Modellkopf erstellt und für 62 manuell festgelegte Landmarken (LM) 10-mal die x-, y-, z-Koordinaten bestimmt. Die statistisch ermittelten prozentualen Variationskoeffizienten und die FAT-Beurteilungen der Messdaten werden graphisch verglichen und zeigen eine gute Übereinstimmung. Die Präzision der LM-Positionierungen ist Landmarken-abhängig Im zweiten Abschnitt werden an 91 Patienten mit unterschiedlichen Spaltdiagnosen jeweils 146 Distanzen aus LM und auch konstruierten Punkten mittels FAT ermittelt. Die prozentualen Variationskoeffizienten der Messdaten der Patientenkollektive werden nach Spaltdiagnose (beid-, rechts-, linksseitiger LKG-Spalte und Minimalvarianten), nach Geschlecht und Alter (≤ , >16 Jahre) graphisch ausgewertet. Die Variationskoeffizienten der Distanzen innerhalb einer Patientengruppe sind vergleichsweise hoch, insbesondere im Nasen- / Mundbereich mit kleinen Distanzen. Eine Differenzierung nach Geschlecht und Alter ist nicht möglich. Im dritten Abschnitt werden Symmetrieindizes für 36 Distanzen von den nach Spaltdiagnose gruppierten 91 Patienten errechnet und graphisch ausgewertet. Die Patienten mit einer einseitigen Anomalie weisen im Nasen- / Mundbereich eine erhöhte Asymmetrie auf. Bei den Patienten mit rechtsseitiger LKG-Spalte sind die Distanzen in der rechten Gesichtshälfte des fehlgebildeten Bereichs im Mittel größer als in der linken, bei linksseitiger LKG-Spalte sich diese Verhältnisse umgekehrt.

Studies of preschool children have shown early speech and language deficits in children with cleft lip and/or palate (CLP). For some children, the deficits during kindergarten diminish as they begin school while some children continue to show delays. The purpose of this study was to determine if a relationship exists between speech and language skills and early reading skills of phonological awareness, letter identification, and rapid naming in children with and without CLP. The subjects, four kindergarten children with and four without CLP, were administered a battery of speech, language, early reading skills, and nonverbal cognition measures. Two-way analysis of variance for groups and matched pairs and correlational analyses were performed. The results revealed that the cleft group performed poorer than the noncleft group on most of the speech, language, and early reading measures. Significant correlations were found between the speech and grammatical language measures and the early reading measures.

There is little empirical evidence to indicate the efficacy of early intervention approaches used with young children with cleft lip and/or palate (CLP). The positive effects of a focused stimulation approach have been documented with children having speech and language deficits, although an articulation model has predominated in intervention of young children with CLP. This study examined the effects of a focused stimulation language intervention and a modification of focused stimulation that emphasized stop consonants through overaspiration of stops (Golding-Kushner, 2001). Four mother-child dyads participated in the study. Each mother received training regarding the implementation of the two treatments. The two interventions were counterbalanced among the four dyads and spanned a total of eight weeks in length. Results indicated that both of the treatments increased the vocabulary usage and reduced the number of compensatory articulation errors in the speech of the children.

Previous research has shown that parent implemented intervention is effective in increasing the speech and language development of children with cleft lip and palate. To further determine the efficacy of this intervention, this study compared the speech and language development of children with CLP, who received parent implemented intervention, with a group of younger, typically developing children, matched for vocabulary size. This study also evaluated the language differences between the mothers of both groups of children. Speech and language assessments were administered to the typically developing children and their mothers at two times to mirror the time of assessment for the children with clefts who received a three-month intervention, in a prior study. The findings revealed that both groups of children demonstrated the same amount of speech and language growth as well as the cleft group exhibiting a decrease in compensatory articulation errors.

No description available.