RESUMO
BACKGROUND: The objective of this study is to evaluate the diagnostic accuracy of plasma-based liquid biopsy for the detection of the BRAF V600E mutation in circulating cell-free DNA from patients with ameloblastoma. METHODS: This is a prospective diagnostic accuracy study conducted based on the Standards for Reporting Diagnostic Accuracy recommendations. The index test was the plasma-based liquid biopsy, whereas the reference standard was the conventional tissue biopsy. The target condition was the detection of BRAF V600E mutation. The study population consisted of individuals with ameloblastoma recruited from three tertiary hospitals from Brazil. A negative control group composed of three individuals with confirmed wild-type BRAF lesions were included. The participants underwent plasma circulating cell-free DNA and tumor tissue DNA isolation, and both were submitted to using competitive allele-specific TaqMan™ real-time polymerase chain reaction technology mutation detection assays. Sensitivity and specificity measures and positive and negative predictive values were calculated. RESULTS: Twelve patients with conventional ameloblastoma were included. BRAF V600E mutation was detected in 11/12 (91.66%) ameloblastoma tissue samples. However, the mutation was not detected in any of the plasma-based liquid biopsy circulating cell-free DNA samples in both ameloblastomas and negative control group. The sensitivity and specificity of plasma-based liquid biopsy for the detection of the BRAF V600E mutation in circulating cell-free DNA was 0.0 and 1.0, respectively. The agreement between index test and reference standard results was 26.66%. CONCLUSION: Plasma-based liquid biopsy does not seem to be an accurate method for the detection of the BRAF V600E mutation in circulating circulating cell-free DNA from patients with ameloblastoma, regardless of tumor size, anatomic location, recurrence status, and other clinicopathological features.
Assuntos
Ameloblastoma , Ácidos Nucleicos Livres , Humanos , Ameloblastoma/diagnóstico , Ameloblastoma/genética , Proteínas Proto-Oncogênicas B-raf/genética , Estudos Prospectivos , Mutação , Ácidos Nucleicos Livres/genéticaRESUMO
Introdução: O tórus palatino se caracteriza por um desenvolvimento ósseo não patológico que ocorre ao longo da linha média do palato duro. Possui etiologia relacionada a fatores genéticos e ambientais, sendo a exostose mais comum em cavidade oral. O tratamento cirúrgico só é necessário em casos específicos quando o tórus interfere nas funções do sistema estomatognático ou na instalação de prótese total no palato. O presente estudo teve como objetivo relatar um caso clínico de tratamento cirúrgico de extenso tórus palatino onde foi empregado um acesso cirúrgico modificado. Relato de caso: Esse trabalho descreve o caso de uma paciente com um tórus palatino de dimensões atípicas com queixas fonéticas e protéticas. Devido ao tamanho da exostose e para permitir uma abordagem mais simplificada, optou-se por um acesso cirúrgico modificado, que em conjunto com a confecção de placa em resina acrílica para instalação no pós-operatório, auxiliou na recuperação e conforto da paciente. Considerações Finais: A técnica cirúrgica utilizada preveniu possíveis desvantagens relacionadas à técnica tradicional, portanto, garantiu um pós-operatório confortável, podendo ser aplicada em tratamentos de tórus palatino quando bem indicada... (AU)
Introduction: Palatine torus is characterized by a non-pathological bone development that occurs along the midline of the hard palate. It`s etiology is related to genetic and environmental factors, being the most common exostoses in the oral cavity. Surgical treatment is only necessary in specific cases when the torus interferes in the functions of the stomatognathic system or in the installation of total prosthesis in the palate. The present study aimed to report a clinical case of surgical treatment of extensive palatine torus where a modified surgical approach was employed. Case report: This article describes the case of a patient with a palatine torus of atypical dimensions with phonetic and prosthetic complaints.Due to the size of the exostoses and to allow a more simplified approach, a modified surgical access was chosen, which together with the confection of acrylic resin plaque for postoperative installationaided in patient recovery and comfort. Final considerations: The surgical technique used prevented possible disadvantages related to the traditional technique, therefore, it guaranteed a comfortable postoperative period... (AU)
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Humanos , Feminino , Pessoa de Meia-Idade , Cirurgia Bucal , Sistema Estomatognático , Exostose , Palato Duro , Boca , Período Pós-Operatório , Próteses e Implantes , Desenvolvimento ÓsseoRESUMO
Introdução:As lesões fibro-ósseas constituem-se num grupo de lesões caracterizadas por processos de substituição de osso normal por tecido fibroso contendo material mineralizado.O fibroma ossificante juvenil é uma neoplasia fibro-óssea benigna que acomete indivíduos jovens, de comportamento agressivo local e com altas taxas de recidiva. São relatadas duas variantes denominadas de fibroma ossificante juvenil trabecular (FOJT) e o fibromaossificante juvenil psamomatoide (FOJP). Apesar de ambos os padrões demonstrarem características semelhantes, a predileção para idade e os sítios de acometimento sãoespecíficos.O tratamento indicado varia de enucleção e curetagem à ressecção cirúrgica. Este trabalho tem como objetivo relatar um caso de um paciente portador de Fibroma Ossificante Juvenil na maxila. Relato de caso: J.S.B., 18 anos, sexo masculino, procurou o Serviço de Cirurgia e Traumatologia Bucomaxilofacial do Hospital Getúlio Vargas, em Recife/PE, com queixa de "caroço no rosto" com aproximadamente 5 anos de evolução em maxila direita. Paciente foi submetido ao tratamento cirúrgico conservador mediante enucleação, curetagem e osteotomia periférica e está sendo acompanhado há cerca de 10 meses sem apresentar recidiva. Considerações finais: O tratamento mais conservador escolhido foi considerado de sucesso, efetivo, com mínimo de morbidade. Mas, devido à lesão ser considerada agressiva e por possuir alta taxa de recidivas, necessita-se de longo período de acompanhamento... (AU)
Introduction: Fibro-osseous lesions constitute a group of lesions characterized by processes of replacement of normal bone by fibrous tissue containing mineralized material. Juvenile Ossifying Fibroma is a benign fibro-osseous neoplasm that affects young individuals, local aggressive behavior, with high rates of relapse. Two variants named trabecular juvenile ossifying fibroma (TJOF) and psamomatoid juvenile ossifying fibroma (PJOF) are reported. Although both patterns demonstrate similar characteristics, the predilection for age and the sites of involvement are specific. The indicated treatment varies from enucleation and curettage to surgical resection. This article aims to report a case of a patient with juvenile ossifying fibroma in maxilla.Case report:J.S.B., 18 years old, male, sought the Surgery and Traumatology Service of Hospital Getúlio Vargas, Recife / PE, complaining of a "lump in the face" with approximately 5 years of evolution in right maxila. Patient underwent conservative surgical treatmentwas performed through enucleation, curettage and peripheral osteotomy and has been followed for about 10 months without recurrence.Final considerations: The most conservative treatment chosen was considered successful, effective, with minimal morbidity. However, because the injury is considered aggressive and because it has a high rate of recurrence, a long follow-up period is required... (AU)
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Humanos , Masculino , Adolescente , Ferimentos e Lesões , Fibroma Ossificante , Face , Maxila , Neoplasias , Osteotomia , Osso e Ossos , Traumatologia , CuretagemRESUMO
The aim of this study was to evaluate standardized conduction velocity data for uninjured facial nerve and facial nerve repaired with autologous graft nerves and synthetic materials. An evaluation was made measuring the preoperative differences in the facial nerve conduction velocities on either side, and ascertaining the existence of a positive correlation between facial nerve conduction velocity and the number of axons regenerated postoperatively. In 17 rabbits, bilateral facial nerve motor action potentials were recorded pre- and postoperatively. The stimulation surface electrodes were placed on the auricular pavilion (facial nerve trunk) and the recording surface electrodes were placed on the quadratus labii inferior muscle. The facial nerves were isolated, transected and separated 10 mm apart. The gap between the two nerve ends was repaired with autologous nerve grafts and PTFE-e (polytetrafluoroethylene) or collagen tubes. The mean of maximal conduction velocity of the facial nerve was 41.10 m/s. After 15 days no nerve conduction was evoked in the evaluated group. For the period of 2 and 4 months the mean conduction velocity was approximately 50 percent of the normal value in the subgroups assessed. A significant correlation was observed between the conduction velocity and the number of regenerated axons. Noninvasive functional evaluation with surface electrodes can be useful for stimulating and recording muscle action potentials and for assessing the functional state of the facial nerve