Thesis (Ph. D.)--University of Wisconsin--Madison, 1958. / Typescript. Vita. eContent provider-neutral record in process. Description based on print version record. Includes bibliographical references (leaves [143]-153).

Thesis (Ed.M.)--Boston University

The purpose of this study is to compare the audiometric results of two variations of the stapedectomy procedure: the partial stapedectomy as performed by Hough, and the total stapedectomy as performed by Schuknecht and House.

Otosclerosis is a common form of adult-onset hearing loss. It is a complex disease that most likely involves multiple genetic and environmental factors. We know that a genetic component for otosclerosis exists because of the overwhelming ethnic bias and the fact that nearly half of patients report a family history. Many family linkage studies and candidate gene association studies have been performed; however, disease-causing mutations remain elusive. The disease is caused by abnormal bone remodeling in the otic capsule, which normally undergoes very little remodeling after development and ossification. This is in stark contrast to the rest of the skeleton, which undergoes bone turn over at a rate of nearly 10% per year. How the otic capsule remains in such a static state is under investigation, but initial studies suggest that bone remodeling inhibitors produced by the inner ear are responsible. In patients with otosclerosis it is uncertain what events trigger this abnormal bone remodeling. To determine its cause, many environmental and genetic factors have been entertained. However, even with decades of research on the disease, we still know little about its etiology. My thesis work has aimed to identify molecular and genetic contributors to the disease. To do this, I have performed a global gene expression analysis of otosclerotic tissue to determine what genes are differentially expressed in the disease compared to control tissue. This study has identified a number of differentially expressed genes and pathways potentially involved in the disease. To compliment this work, I also performed a genome-wide association study, in collaboration with a group from Belgium. Together we identified an unexpected gene, RELN, as being associated with otosclerosis in six different European populations. This marks the first successful genome-wide association study for a hearing impairment. I have also identified rare variants in several candidate genes in the TGF-â superfamily in otosclerosis patients. Further analysis of these variants has identified a few that appear to alter protein function, giving us a glimpse of what they may be doing to cause disease. While we still cannot account for most of the heritability for otosclerosis, we have come a long way in identifying new candidates, in which future analysis will hopefully lead to a better understanding of the disease. In the long term, I hope this work will help provide better treatment options for patients with this disease.

No description available.

Background: Theoretical disadvantages are associated with the use of heat-crimped piston prostheses in stapedotomy. Loose crimping could result in prosthesis displacement or slippage. Alternatively, overly tight crimping may cause trauma to the incus with resultant necrosis. Objectives: 1) Analyze outcomes of patients undergoing stapedotomy with heat-activated piston-style prostheses, and 2) compare outcomes between prostheses made by different manufacturers. Study Design: Retrospective. Setting: Vanderbilt Medical Center. Patients and Methods: Cases undergoing stapedotomy between 2005 and 2016 were reviewed. Audiometric assessments were recorded in accordance with American Academy of Otolaryngology—Head and Neck Surgery (AAO-HNS) guidelines. Patients who lacked audiometric follow-up before 6 months or after 1 year were excluded. Intervention(s): Diagnostic, therapeutic, and rehabilitative. Main Outcome Measure(s): Postoperative air-bone gap (ABG) and achievement of an ABG is less than or equal to 10dB. Results: Three hundred fifty-eight patients met inclusion criteria. At short-term follow-up (<6 mo), the mean ABG was 11 8 dB in the entire cohort; this did not differ based on manufacturer (p ¼ 0.13). The majority of patients (63%) achieved an ABG less than or equal to 10 dB. At longer-term follow-up, the mean ABG was 9 7 dB; again no differences were noted when comparing prosthesis manufacturer (p ¼ 0.20). 70% of patients achieved an ABG less than or equal to 10 dB at longer-term follow-up. When comparing short- to long-term follow-up, ABG did not significantly change over time (p ¼ 0.76). The overall revision rate was 1.9% (n ¼ 7). Conclusion: Favorable hearing outcomes are obtained both short- and long-term following stapedotomy and placement of heat-crimped piston prostheses. Both prosthesis groups appear stable in the middle ear environment long-term, as evidenced by a 1.9% revision rate among them.

Na prática clínica, nota-se uma dificuldade em identificar a rigidez do sistema tímpano-ossicular decorrente da Otosclerose por meio dos métodos de avaliação rotineiramente empregados. Assim, as medidas de imitância acústica de banda larga podem fornecer mais informações sobre a condição do sistema tímpano-ossicular por avaliarem uma ampla faixa de frequência. O objetivo do estudo foi caracterizar as medidas de imitância acústica de banda larga com os estímulos tom puro e chirp em indivíduos com diagnóstico de Otosclerose submetidos à estapedectomia ou estapedotomia. Foram avaliados 40 indivíduos na faixa etária de 33 a 80 anos, totalizando 54 orelhas operadas e 22 orelhas não operadas. A avaliação audiológica foi realizada por meio da otoscopia, audiometria tonal liminar, logoaudiometria e imitanciometria. As medidas de imitância acústica de banda larga foram obtidas por meio do sistema de medidas Middle-Ear Power Analyzer MEPA3, versão 5.0 (Mimosa Acoustics), utilizando os estímulos tom puro e chirp. Os dados obtidos foram submetidos à análise estatística descritiva e inferencial, com nível de significância de 0,05. As orelhas com Otosclerose apresentaram maior absorvância em 750 Hz, uma tênue diminuição até 3000 Hz, acentuando-se a partir desta frequência. A magnitude da admitância foi maior na faixa de frequência de 1992 a 4008 Hz, assim como a magnitude da impedância foi maior nas frequências baixas com diminuição até 4008 Hz e aumento em 6000 Hz. Estas orelhas foram dominadas pela rigidez nos sons graves e médios, por resistência entre 3000 e 4008 Hz e a partir desta frequência pela massa. A fase da impedância foi maior em 258 Hz e o delay da reflectância (slope) apresentou uma variação de comportamento entre as frequências, não sendo possível caracterizar um padrão de resposta. Conclui-se que há diferenças nas medidas obtidas nas orelhas com Otosclerose submetidas à cirurgia, quando analisadas as frequências baixas e médias, o que demonstra o impacto positivo da intervenção cirúrgica na funcionalidade do sistema tímpano-ossicular. / In clinical practice, there is a difficulty in identifying the rigidity of the tympano-ossicular system resulting from Otosclerosis through the routinely employed evaluation methods. Thus, wideband acoustic immitance measurements can provide more information on the condition of the tympanic-ossicle system by evaluating a wide frequency range. This study aimed at characterizing the wideband acoustic immitance measurements with the pure tone and chirp stimuli in individuals diagnosed with Otosclerosis submitted to stapedectomy or stapedotomy. Forty individuals aged 33 to 80 years were evaluated, totaling 54 operated and 22 non-operated ears. Audiology assessment was performed through otoscopy, pure-tone audiometry, logoaudiometry and imitanciometry. Wideband acoustic immitance measurements were obtained using the Middle-Ear Power Analyzer (MEPA3), version 5.0 (Mimosa Acoustics), by means of pure tone and chirp stimuli. Data were submitted to descriptive and inferential statistical analysis, with a significance level of 0.05. The ears with Otosclerosis presented a greater absorbance in 750 Hz, a slight diminution until 3000 Hz, being accentuated from this frequency. The admittance magnitude was higher in the frequency range from 1992 to 4008 Hz, as well as the impedance magnitude was higher in the low frequencies with a decrease up to 4008 Hz and an increase in 6000 Hz. These ears were dominated by rigidity in the low and medium sounds, by resistance between 3000 and 4008 Hz, and from this frequency, by the mass. The impedance phase was higher at 258 Hz and the reflectance delay (slope) showed a behavioral variation between the frequencies, a response not being characterized. It can be concluded that there are differences in the measurements obtained in Otosclerosis ears submitted to surgery, when the low and medium frequencies were analyzed, which demonstrates the positive impact of the surgical intervention on the tympano-ossicle system.

Na prática clínica, nota-se uma dificuldade em identificar a rigidez do sistema tímpano-ossicular decorrente da Otosclerose por meio dos métodos de avaliação rotineiramente empregados. Assim, as medidas de imitância acústica de banda larga podem fornecer mais informações sobre a condição do sistema tímpano-ossicular por avaliarem uma ampla faixa de frequência. O objetivo do estudo foi caracterizar as medidas de imitância acústica de banda larga com os estímulos tom puro e chirp em indivíduos com diagnóstico de Otosclerose submetidos à estapedectomia ou estapedotomia. Foram avaliados 40 indivíduos na faixa etária de 33 a 80 anos, totalizando 54 orelhas operadas e 22 orelhas não operadas. A avaliação audiológica foi realizada por meio da otoscopia, audiometria tonal liminar, logoaudiometria e imitanciometria. As medidas de imitância acústica de banda larga foram obtidas por meio do sistema de medidas Middle-Ear Power Analyzer MEPA3, versão 5.0 (Mimosa Acoustics), utilizando os estímulos tom puro e chirp. Os dados obtidos foram submetidos à análise estatística descritiva e inferencial, com nível de significância de 0,05. As orelhas com Otosclerose apresentaram maior absorvância em 750 Hz, uma tênue diminuição até 3000 Hz, acentuando-se a partir desta frequência. A magnitude da admitância foi maior na faixa de frequência de 1992 a 4008 Hz, assim como a magnitude da impedância foi maior nas frequências baixas com diminuição até 4008 Hz e aumento em 6000 Hz. Estas orelhas foram dominadas pela rigidez nos sons graves e médios, por resistência entre 3000 e 4008 Hz e a partir desta frequência pela massa. A fase da impedância foi maior em 258 Hz e o delay da reflectância (slope) apresentou uma variação de comportamento entre as frequências, não sendo possível caracterizar um padrão de resposta. Conclui-se que há diferenças nas medidas obtidas nas orelhas com Otosclerose submetidas à cirurgia, quando analisadas as frequências baixas e médias, o que demonstra o impacto positivo da intervenção cirúrgica na funcionalidade do sistema tímpano-ossicular. / In clinical practice, there is a difficulty in identifying the rigidity of the tympano-ossicular system resulting from Otosclerosis through the routinely employed evaluation methods. Thus, wideband acoustic immitance measurements can provide more information on the condition of the tympanic-ossicle system by evaluating a wide frequency range. This study aimed at characterizing the wideband acoustic immitance measurements with the pure tone and chirp stimuli in individuals diagnosed with Otosclerosis submitted to stapedectomy or stapedotomy. Forty individuals aged 33 to 80 years were evaluated, totaling 54 operated and 22 non-operated ears. Audiology assessment was performed through otoscopy, pure-tone audiometry, logoaudiometry and imitanciometry. Wideband acoustic immitance measurements were obtained using the Middle-Ear Power Analyzer (MEPA3), version 5.0 (Mimosa Acoustics), by means of pure tone and chirp stimuli. Data were submitted to descriptive and inferential statistical analysis, with a significance level of 0.05. The ears with Otosclerosis presented a greater absorbance in 750 Hz, a slight diminution until 3000 Hz, being accentuated from this frequency. The admittance magnitude was higher in the frequency range from 1992 to 4008 Hz, as well as the impedance magnitude was higher in the low frequencies with a decrease up to 4008 Hz and an increase in 6000 Hz. These ears were dominated by rigidity in the low and medium sounds, by resistance between 3000 and 4008 Hz, and from this frequency, by the mass. The impedance phase was higher at 258 Hz and the reflectance delay (slope) showed a behavioral variation between the frequencies, a response not being characterized. It can be concluded that there are differences in the measurements obtained in Otosclerosis ears submitted to surgery, when the low and medium frequencies were analyzed, which demonstrates the positive impact of the surgical intervention on the tympano-ossicle system.

Orientador: Agrício Nubiato Crespo / Dissertação (mestrado) - Universidade Estadual de Campinas, Faculdade de Ciências Médicas / Made available in DSpace on 2018-08-27T01:23:01Z (GMT). No. of bitstreams: 1 Silveira_AngelaRubiaOliveira_M.pdf: 1670731 bytes, checksum: ec4ef38ecf62f138c4949e294a99350a (MD5) Previous issue date: 2015 / Resumo: A otosclerose é uma osteodistrofia focal da cápsula ótica que promove desarranjo metabólico progressivo e pode levar à perda auditiva profunda. O principal objetivo deste trabalho é comparar os resultados pós-cirúrgicos obtidos em pacientes submetidos a implante coclear com otosclerose aos de pacientes com outras causas de surdez. Optou-se pelo estudo de coorte retrospectivo que compara pacientes com otosclerose submetidos a implante coclear com pacientes submetidos a implante coclear por outras etiologias no período de cinco anos. Foram avaliados gênero, idade do implante, tempo de surdez, programação do implante coclear - Comfort e Threshold,, teste de fala para sentenças, monossílabos e dissílabos, audiometria tonal. Obteve ¿ se 139 pacientes adultos, sendo 17 com otosclerose e selecionados 36 com outras etiologias; 86 pacientes foram excluídos. Todos receberam a mesma marca de implante (Cochlear®) até o ano de 2009. Os pacientes com otosclerose possuíam idade média de 50,2 anos e o grupo controle, média de 40,8 anos, na época do implante (p<0.05). No grupo de estudo, nove pacientes eram mulheres e oito homens. O tempo de surdez até a data do implante não apresentou diferença significativa entre os grupos de pacientes. Avaliado o teste de fala para sentenças, monossílabos e dissílabos sem diferença estatística entre os grupos otosclerose e outras etiologias. Para análise da programação do implante coclear foram encontrados valores sem diferença estatística de Comfort e Threshold . Observou-se maior estímulo do nervo facial no grupo de pacientes com otosclerose quando eram usados eletrodos retos. Conclui-se que pacientes com otosclerose implantados apresentaram bons resultados cirúrgicos e auditivos, a despeito do maior número de complicações apresentadas como estímulo do nervo facial. Estes resultados são comparáveis ao estudo de pacientes do grupo controle sem diferença estatística entre eles, apesar da característica progressiva da doença otosclerose / Abstract: Otosclerosis is a bone dysplasia of the otic capsule that promotes progressive metabolic derangement, and can lead to profound hearing loss. The main objective of this work is to compare the postoperative results in patients undergoing cochlear implant with otosclerosis compared with patients with other causes of deafness. Retrospective cohort study was performed in order to compare cochlear implant results in otosclerosis patient to those to in matched pair control group within five years. Cochlear implant program were evaluated- Comfort and Threshold, , speech test sentences, monosyllabic and disyllabic test, audiometry - gender, age at implantation, duration of deafness. We find 139 adults patients, 17 with otosclerosis and selected 36 with other causes; 86 patients were excluded. All received the same brand of implant until 2009. Patients with otosclerosis had a mean age of 50.2 years and the control group, mean age of 40.8 years at the time of implantation, (p<0.05). In the study group, nine patients were women and eight men. The duration of deafness until the time of implantation showed no significant difference between the groups of patients. When assessed for the speech sentences, monosyllabic and disyllabic test without statistical difference between the otosclerosis groups and other losses. For analysis of cochlear implant programming Threshold and Comfort without values statistical differences Greater stimulation was observed when straight electrodes were used. We concluded that implanted patients with otosclerosis, had good surgical and hearing results despite the greater number of patients that had facial nerve stimulation. These results are comparable to the results of patients in the control group with no statistical difference between them, despite the progressive characteristics of otosclerosis disease / Mestrado / Otorrinolaringologia / Mestra em Ciências Médicas

Diss. (sammanfattning) Stockholm : Karol. inst. / Härtill 5 uppsatser.