published_or_final_version / Speech and Hearing Sciences / Master / Master of Science in Audiology

published_or_final_version / Dentistry / Master / Master of Dental Surgery

published_or_final_version / abstract / Speech and Hearing Sciences / Master / Master of Science in Audiology

published_or_final_version / abstract / Speech and Hearing Sciences / Master / Master of Science in Audiology

Introducción: La anatomía de la fisura labial bilateral es diferente para cada paciente y varios autores han descrito modificaciones de técnicas tradicionales en la búsqueda de obtener un diseño más individual con mejores resultados. Las técnicas de Millard y Mulliken son probablemente las técnicas quirúrgicas más usadas por los cirujanos alrededor del mundo en el manejo de la fisura labial bilateral, sin embargo existen algunas limitaciones en esta técnica en casos bilaterales con asimetría. En ese sentido, se ha diseñado la presente técnica que busca corregir la asimetría en la fisura bilateral. Esta técnica se basa en un doble avance y rotación lateral localizando las cicatrices sobre las líneas naturales del labio entre las unidades estéticas del mismo. Material y Métodos: Este es un estudio retrospectivo del tipo de serie de casos. Este artículo presenta una nueva técnica para el tratamiento quirúrgico de la fisura labial bilateral usada por el autor en 125 pacientes a manera de estudio retrospectivo descriptivo. Esta técnica está basada en el concepto de doble avance y rotación lateral permitiendo el alargamiento del segmento labial lateral más corto. Estas incisiones son ubicadas sobre las líneas naturales del labio, entre las subunidades estéticas del labio superior, en su mayoría. Se evaluaron los resultados obtenidos con esta técnica considerando el número de malos resultados observados a través del seguimiento de los pacientes en un plazo mayor a un año a través del examen físico directo y el análisis de las fotos postoperatorias estandarizadas. Resultados: Desde 2009 al 2011 esta técnica ha sido usada en 125 fisuras labiales bilaterales. Se obtuvo un buen resultado estético y funcional del labio superior y la nariz con esta técnica. Se observaron 15 / 125 (12 %) de malos resultados. Estas son cirugías que necesitaron revisión secundaria mayor. Conclusiones: Una nueva técnica para el tratamiento de formas asimétricas de fisura labial bilateral se describe aquí. Esta es una técnica que permite alargar el segmento labial lateral más corto de la fisura con buenos resultados estéticos en la reconstrucción del labio superior y nariz de la fisura labial bilateral. / Introduction: The anatomy of bilateral cleft lip is different for each patient, and many authors have described modifications of the traditional repairing techniques in order to achieve more individualized designs and better results. The techniques described by Millard and Mulliken are probably the most commonly used all over the world for repairing bilateral cleft lip; however, there are some short-comings when trying to repair asymmetric forms of bilateral cleft lip. So, we designed this technique aiming to correct asymmetry in bilateral cleft lip. This technique is based on a double advancement and lateral rotation concept placing the scars over the natural lines between the esthetic subunits of the upper lip. Matherial and Methods: This is a retrospective and descriptive study based on a case series. We present a new technique used for surgical repair of bilateral cleft lip in 125 patients. The technique is based in the double advancement and lateral rotation concept which allows lengthening of the shortest lateral lip segment. Most of the incisions are performed on the natural lip landmarks, between the aesthetic subunits of the upper lip. Results were assessed considering the number of failures observed after following up patients for more than one year, performing physical examination and analyzing standardized postoperative pictures. Results: This technique has been used in 125 procedures for repairing cleft lip. We obtained good functional and esthetic outcomes for both nose and lips using this technique. The rate of poor results was 15/125 (12%). These latter procedures had to undergo major secondary surgical revisions. Conclusions: We describe a new technique for surgical repair of asymmetric bilateral cleft lip. This technique led to the elongation of the shortest lateral labial segment, allowing us to achieve good esthetic and functional results on upper lip and nose reconstruction in cases of bilateral asymmetric cleft lip.

Orofacial anomalies make up about a third of the 120,000 birth defects each year in the United States. Children born with these abnormalities must undergo immense physical and emotional strain in order to correct the defects. In fact, about $697 million is spent every year surgically treating children with cleft lip and/or cleft palate (2011). In countries where surgery is not an option, this abnormality causes immense difficulties in eating, hearing, speech, and psychosocial development. The causes of cleft lip/palate are extremely complex. Genetics play a role in the anomaly; however, 95% of cleft palate cases are non-syndromic and likely due to other factors. Vitamin deficiencies, lack of folic acid intake during pregnancy, exposure to cigarette smoke, anticonvulsant drugs, alcohol, and inappropriate amounts of retinoic acid have all been correlated to incidence of cleft palate and other orofacial defects (Weingartner, Lotz et al. 2007). Xenopus laevis, and the closely related Xenopus tropicalis, are excellent model systems for orofacial development studies. The ease of embryo collection and manipulation, in addition to the conservation of DNA sequence between the two species, makes them ideal for studying developmental processes. Further, tissue specific experiments are extremely feasible due to the size of Xenopus oocytes (approximately 1000 times larger than a human egg!), and their ability to develop outside of the mother (Lindeman, Winata et al. 2010; Liu 2011). Here, I show that molecules from both the folic acid and retinoic acid pathways are highly expressed in the developing face. I have found that inhibition of key enzymes that regulate these pathways induces similar orofacial malformations, including median clefts that extend into the developing palate. Further, disruption of these pathways induces severe abnormalities in the formation of the cartilages of the jaws and face. Thus, both folic acid and retinoic acid are key signaling molecules that regulate proper formation of the orofacial region.

Among the most prevalent and devastating types of human birth defects are those affecting the mouth and face, such as orofacial clefts. Children with malformed orofacial structures undergo multiple surgeries throughout their lifetime and struggle with facial disfigurements, speech, hearing, and eating problems. Therefore, facilitating new research in cranio- and orofacial development is paramount to prevention and treatment of these types of birth defects in humans. Xenopus laevis has emerged as a new tool for dissecting the mechanisms governing facial development. Thus, molecular analyses accompanied by quantitative assessment of morphological changes during orofacial development of this species could be very powerful for understanding how these defects arise. In this dissertation, I present such a study. I first establish a quantitative protocol to describe size and shape changes in facial morphology of wild-type Xenopus embryos. I then utilize this method on embryos in which retinoic acid signaling or folate metabolism have been disrupted to correlate morphological changes with their underlying mechanisms. Finally, I demonstrate the utility of Xenopus as a system for chemical genomics to uncover other regulators of orofacial development.

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.

Existem poucos estudos na área de periodontia envolvendo indivíduos portadores de fissura labiopalatina; pesquisas que avaliem as condições periodontais destes pacientes durante tratamento ortodôntico são ainda mais escassas. O objetivo deste trabalho foi fazer um estudo da condição periodontal, durante o tratamento ortodôntico, dos pacientes com fissura labiopalatina com comprometimento de rebordo alveolar e avaliar se a região da fissura apresenta maior incidência e severidade de alterações periodontais. O grupo estudado foi selecionado no Ambulatório da Disciplina de Prótese Bucomaxilofacial da Faculdade de Odontologia da Universidade de São Paulo (FO-USP), sendo constituído por 43 pacientes na faixa etária de 11 a 35 anos, portadores de fissuras labiopalatinas, não sindrômicos, já submetidos às cirurgias reparadoras primárias e em tratamento com ortodontia fixa há mais de 6 meses. Durante o exame clínico periodontal da maxila realizamos medidas de profundidade clínica de sondagem, nível clínico de inserção, sangramento à sondagem e índice de placa. Todos os exames foram feitos por um único pesquisador, especialista em periodontia, com calibração prévia. A avaliação periodontal mostrou que a região da maxila afetada pela fissura apresentou maior índice de sangramento à sondagem o que está associado a maior ocorrência de gengivite. Os dentes da região da fissura apresentaram menores profundidades clínicas de sondagem que a média da maxila, indicando que não há maior prevalência de bolsas periodontais na região fissurada. Não encontramos diferenças estatisticamente significantes no nível clínico de inserção dos dentes adjacentes à fissura, sendo assim a presença da fissura não esteve associada a perda óssea. Os pacientes da amostra apresentaram uma profundidade de sondagem rasa e pouca perda de inserção. A doença periodontal em indivíduos portadores de fissura, neste estudo, demonstrou não ter maior incidência ou severidade na região da fissura. / There is a shortage of studies in the periodontics field about individuals with cleft lip and palate, studies that evaluate the periodontal conditions of these patients during orthodontic treatment are even scarcer. The aim of this research was to analyze the periodontal condition during orthodontic treatment, of patients with cleft lip and palate with compromised alveolar bone and evaluate if the cleft region on maxilla presented a higher incidence and severity of periodontal disease. The study group was selected from the Clinical Division of Bucomaxilofacial Prosthodontics subject, from School of Dentistry of University of São Paulo, which consisted of 43 patients between 11 and 35 years old with cleft lip and palate, non-syndromic, who had already undergone primary reconstructive surgeries, and who have been in treatment with fixed orthodontics for more than 6 months. During a periodontal clinical exam of the maxilla, the measurements of depth probing, clinical level of insertion, bleeding on probing and plaque index were carried out. The exams were performed by an experienced periodontal examiner who was calibrated previously. The periodontal evaluation showed that the region of the maxilla affected by the cleft had a higher index of bleeding on probing, which is associated with a higher occurrence of gingivitis. The teeth in the cleft region showed smaller clinical depths of probing than the maxilla average, indicating that there is no greater prevalence of periodontal pockets in the region of the cleft. We did not find any significant statistical differences in the clinical level of insertion of the teeth adjacent to the cleft, so the presence of cleft was not associated with a higher bone loss. Patients in the sample had a shallow probing depth and low insertion loss. This study showed that periodontal disease in individuals with cleft lip and palate occurs in a similar way at all the maxilla.

Introdução: O sucesso da prótese de palato para correção da insuficiência velofaríngea (IVF) em crianças com fissura palatina depende de muitos fatores que ainda precisam ser investigados. A pouca literatura existente nesta área é baseada, em sua grande maioria, no relato de casos clínicos, sem a investigação de todo o processo envolvido na confecção desse tipo de prótese e de possíveis intercorrências de tratamento. Objetivos: Os objetivos deste estudo foram: 1) caracterizar todas as etapas e o tempo necessário para confecção da prótese de palato em crianças com IVF decorrente de fissura labiopalatina, e 2) identificar a ocorrência de fatores que podem interferir no processo de confecção, adaptação e manutenção da prótese de palato na população estudada. Material e Método: Este estudo retrospectivo envolveu uma análise de prontuários de crianças com fissura labiopalatina unilateral, que foram encaminhadas para uso temporário da prótese de palato para correção da IVF. O grupo estudado incluiu 45 crianças (24 meninas e 21 meninos), cujas idades variaram entre 3 anos e 10 meses e 10 anos e 2 meses (Média = 6 anos e 2 meses) na época em que o tratamento com a prótese de palato foi iniciado. Um protocolo para o levantamento dos dados abordando cada fase da confecção das três partes da prótese de palato (anterior, intermediária e bulbo faríngeo) foi elaborado tratando também do tempo necessário para confecção de cada porção assim como dos dados referentes às intercorrências durante este processo. Resultados: Em geral, o tempo de confecção de todas as etapas das próteses foi, em média, de 8 meses, necessitando, para tanto, uma média de 14 atendimentos. O período entre a conclusão da prótese e o primeiro retorno para a sua manutenção foi de 8 meses, em média, sendo observada a necessidade de substituição das próteses para 56% das crianças. Conclusão: O processo de confecção de uma prótese de palato em crianças pode apresentar grande variação quanto ao número de atendimentos e ao tempo necessário para a conclusão da próteses, principalmente devido a pouca condição de suporte das próteses, à dificuldade de adaptação da criança ao uso de cada parte da prótese e à necessidade de troca da prótese antes da sua conclusão final devido ao crescimento da maxila. / Introduction: The successful use of a palatal prosthesis for correction of velopharyngeal insufficiency (VPI) in children with cleft palate depends on factors that need to be investigated. The existing literature in this area is limited and based mostly in case report, not addressing the process involved in the construction of this type of device neither describing the difficulties nor complications during this process. Objectives: The objectives of this study were: 1) to characterize all stages involved in the construction of a palatal prosthesis and the duration of this process in children with VPI associated to cleft lip and palate, and 2) to identify the occurrence of factors that can interfere in the process of construction, fitting and monitoring of the palatal prosthesis in the studied population. Material and Method: This retrospective study involved an analysis of treatment records of children with cleft lip and palate referred to temporary correction of VPI with palatal prosthesis. The group studied included 45 children (24 girls, 21 boys), with age varying between 3y10m and 10y2m (mean of 6y2m) at the time the prosthetic treatment of VPI was initiated. A data collection protocol was elaborated addressing each phase involved in the construction of all 3 parts of the palatal prosthesis (anterior, intermediary, and speech bulb), documenting the time needed to accomplish each part and recording the complications observed throughout the prosthetic treatment. Results: In general the mean duration of the process for construction of all parts of the prosthesis was 8 months with an average of 14 visits needed to finish the device. The period between the conclusion of the device and the first monitoring visit also was 8 months (average). It was observed the need for substitution of the prosthesis for 56% of the children. Conclusion: The process for the construction of a palatal prosthesis for children with VPI may present large variation in the number of visits and the duration of the process needed for the conclusion of the prosthesis, particularly due to the lack of adequate dental support for the device retention, the difficulty of the adaptation of the child to use each part of the prosthesis, and the need to substitute the prosthesis due to growth of the maxilla.