Diagnosis routine and approach in genetic sensorineural hearing loss

SummaryAim: To develop a screening in order to determine the more common syndromic and non-syndromic genetic SNHL, considering epidemiological data, information and the development of new technologies; clinical implications and bioethical issues. Materials and Methods: We reviewed the literature in order to develop a screening that includes: history, patterns of inheritance, physical evaluation, laboratory tests, image studies, multidisciplinary approaches and genetic tests. Conclusion: The epidemiologic data estimates that at least 50% of prelingual HL can be determined by genetic alterations. Medical and family histories are extremely important to help one achieve a genetic-based SNHL diagnosis, and help determine inheritance patterns. Through a high suspicion index, syndromic cases can be diagnosed or excluded, with a careful evaluation and molecular basis tests used to better determine the hearing loss. Genetic tests and mitochondrial inheritance should be considered in any family with many affected individuals, except when the hearing loss was clearly transmitted by a male. In cases of non-syndromic SNHL, GJB2 mutation analysis must be proposed

Study of wound healing in rats treated with topical and injected mitomycin-C

Estudo experimental em animais. A mitomicina C vem sendo usada como inibidor de fibroblastos, acarretando, com isso, diminuição do processo cicatricial em feridas cirúrgicas. OBJETIVO: Este trabalho visa avaliar o uso de Mitomicina C para diminuir o processo cicatricial, através de seu uso tópico com reforços posteriores injetáveis. MATERIAL E MÉTODOS: Foi usado um modelo de feridas em dorso de ratos, com retirada circular da pele e cicatrização por segunda intenção. Foram usados 18 ratos, divididos em três grupos: controle; com uso tópico; e com reforço de mitomicina C injetável, mensalmente e por 2 meses. Após 3 meses os animais foram sacrificados e as cicatrizes retiradas cirurgicamente e submetidas a estudo histológico. RESULTADOS: Notou-se sob vários critérios que a cicatrização com o uso tópico é menos intensa, mas ao se usar o reforço injetável os parâmetros voltam a ser comparados ao do grupo controle. DISCUSSÃO: Acreditamos que a administração injetável de mitomicina C nas cicatrizes, pela sua elevada característica tóxica, acarreta destruição tecidual e neoformação cicatricial. CONCLUSÕES: A mitomicina C diminui o processo cicatricial quando usada topicamente, mas acarreta aumento da cicatrização quando nestas feridas são feitos reforços injetáveis.Experimental study in animals. Introduction: Mitomycin C has been used as a fibroblasts inhibitor, thus reducing the scaring process in surgical wounds. AIM: This paper aims at assessing the use of Mitomycin C to reduce the scaring process through its topical use and later injected reinforcements. MATERIALS AND METHODS: We used a model of a creating a wound in the dorsum of rats, removing a circular piece of skin and letting it heal by itself. We used 18 rats, divided in three groups. The first group - Control, the second with topical use, and a third group with injected mitomycin C reinforcement, monthly for 2 months. After 3 months the animals were slaughtered and the scars were surgically removed and sent for histology study. RESULTS: We noticed, under different criteria, that healing with topical mitomycin is less intense; however, when it was injected, the parameters were again comparable to those from the control group. DISCUSSION: We believe that injected mitomycin C in the scar, since it is highly toxic, it destroys tissue and brings about scar neoformation. CONCLUSIONS: Mitomycin C reduces the scaring process when used topically; however, it increases scar tissue formation when injected in these wounds

Analysis of histopathological aspects in acquired middle ear cholesteatoma

Middle ear cholesteatomas are characterized by the presence of stratified squamous epithelium in this cavity with highly invasive properties causing bone destruction and it may lead to complications. AIM: To study the histopathological features in acquired cholesteatomas of the middle ear, correlating this data with patient age. Study design:clinical and experimental cross-sectional study. MATERIAL AND METHODS: Samples were obtained from 50 patients submitted to otologic surgery for the removal of middle ear cholesteatomas from 2006 to 2007. Thirty four patients were adults and 16 were children. Samples were studied by histological analysis. RESULTS: we found the presence of epithelial atrophy (78%), epithelial acanthosis (88%), hyperplasia of the basal layer (88%) and formation of epithelial cones (62%). There was a positive and significant correlation between histopathological variables (such as epithelial acanthosis, hyperplasia of the basal layer and formation of epithelial cones). Histopathological variables presented no statistical significant difference in both age groups (p>0,05). CONCLUSION: Cholesteatomas have hyperproliferating characteristics with epithelial acanthosis, hyperplasia of the basal layer and the presence of epithelial cones in the matrix.O colesteatoma da orelha média é caracterizado pela presença de epitélio estratificado pavimentoso queratinizado neste local, com alto poder invasivo, causando destruição óssea e podendo levar a complicações. OBJETIVO: Estudar os padrões histopatológicos no colesteatoma adquirido da orelha média. Correlacionar esses dados com a idade do paciente. FORMA DE ESTUDO: Clínico e experimental do tipo transversal. MATERIAL E MÉTODO: Foram colhidas amostras de colesteatoma de 50 pacientes submetidos à cirurgia otológica, sendo 34 adultos e 16 crianças, no período de 2006 a 2007. Essas amostras foram submetidas à análise histológica. RESULTADOS: A presença de atrofia foi encontrada em 78% dos casos, acantose em 88%, hiperplasia da camada basal em 88% e cones epiteliais em 62%. As correlações entre acantose e hiperplasia da camada basal, acantose e formação de cones epiteliais, hiperplasia da camada basal foram positivas e significativas. Não houve diferença estatisticamente significativa em relação aos padrões histopatológicos entre os dois grupos etários (p>0,05). CONCLUSÃO: O colesteatoma tem características hiperproliferativas, com acantose, hiperplasia da camada basal e presença de cones epiteliais na sua matriz.SCSP FCM Depto. MorfologiaUNIFESP-EPMSCSP FCM Depto. de OtorrinolaringologiaFundação Antônio PrudenteUNIFESP, EPMSciEL

Um método de padronização de medidas feitas em radiografias dos seios frontais para ser utilizado na identificação pessoal

BV UNIFESP: Teses e dissertaçõe

Um método prático para a avaliação de comprometimento do aparelho auditivo em crianças

BV UNIFESP: Teses e dissertaçõe

Feasibility of ossicular chain reconstruction with resin cement

Abstract Introduction: Disjunction of ossicular chain is a common finding in middle ear chronic disease. In addition to ossicular interposition, various materials have been used for reconstruction, such as ceramic prostheses, polyethylene, and titanium. Objective: Because of the high cost of the available options, the authors propose to reconstruct the ossicular chain with resin cement, a material typically used in dental reconstruction and fixation. Methods: Two anatomical parts of the temporal bones were used, creating a disjunction of the ossicular chain between the incus and staples and then reconstructing with resin cement. These reconstructions were repeated four times by three different surgeons to ensure the feasibility of the method. Results: A total of 12 reconstructions were carried out, four per surgeon. After applying the cement, it could be verified by touch that the space was filled properly by the used material. Proper articulation with motion transfer to the entire ossicular chain was also observed. Conclusion: Resin cement is a suitable material in the reconstruction of ossicular chain injury, and it is inexpensive and technically simple

Hearing loss assessment in primary and secondary acquired cholesteatoma,

ABSTRACT INTRODUCTION: Acquired middle ear cholesteatoma can be classified as primary or secondary. Although both can result in hearing loss, it is still controversial whether there is an association between the type of cholesteatoma and the degree of hearing loss. OBJECTIVE: To analyze the association between hearing loss and the type of acquired cholesteatoma, and the status of the ossicular chain. METHODS: This was a cross-sectional historical cohort study involving patients diagnosed with acquired cholesteatoma who were surgically treated. Air and bone conduction thresholds, air-bone gaps and the status of the ossicular chain were analyzed for both types of cholesteatoma. RESULTS: Eighty patients aged 5-57 were included in the study. Fifty-one patients had primary cholesteatoma and 29 had secondary cholesteatoma. Both types of cholesteatoma determined greater air-bone gaps at 0.5 kHz. Secondary cholesteatoma determined greater hearing loss in all analyzed frequencies and higher air conduction and air-bone gap means. CONCLUSION: There was association between hearing loss and the type of cholesteatoma. Secondary cholesteatoma resulted in greater hearing impairment