RESUMEN
We report an isolated otosclerosis of the incus that was removed using a transcanal approach and the ossicular chain was reconstructed using a total ossicular replacement prosthesis due to a tilted stapes.
Asunto(s)
Pueblo Asiatico , Enfermedades del Oído/cirugía , Yunque/diagnóstico por imagen , Reemplazo Osicular , Otosclerosis/cirugía , Tomografía Computarizada por Rayos X , Adulto , Diagnóstico Diferencial , Enfermedades del Oído/complicaciones , Enfermedades del Oído/diagnóstico por imagen , Enfermedades del Oído/etnología , Femenino , Pérdida Auditiva/etiología , Humanos , Otosclerosis/complicaciones , Otosclerosis/diagnóstico por imagen , Otosclerosis/etnología , Hueso Temporal/diagnóstico por imagenRESUMEN
Otosclerosis is a progressive hearing loss characterized by an abnormal bone homeostasis of the otic capsule that leads to stapes fixation. Although its etiology remains unknown, otosclerosis can be considered a complex disease. Transforming growth factor-beta 1 (TGF-beta1) was chosen for a case-control association study, because of several non-genetic indications of involvement in otosclerosis. Single nucleotide polymorphism (SNP) analysis in a large Belgian-Dutch sample set gave significant results (P = 0.0044) for an amino acid changing SNP, T263I. Analysis of an independent French population replicated this association with SNP T263I (P = 0.00019). The results remained significant after multiple testing correction in both populations. Haplotype analysis and the results of an independent effect test using the weighted haplotype (WHAP) computer program in both populations were both compatible with SNP T263I being the only causal variant. The variant I263 is under-represented in otosclerosis patients and hence protective against the disease. Combining the data of both case-control groups for SNP T263I with a Mantel-Haenszel estimate of common odds ratios gave a very significant result (P = 9.2 x 10(-6)). Functional analysis of SNP T263I with a luciferase reporter assay showed that the protective variant I263 of TGF-beta1 is more active than the WT variant T263 (P = 1.6 x 10(-6)). On the basis of very low P-values, replication in an independent population and a functional effect of the protective variant, we conclude that TGF-beta1 influences the susceptibility for otosclerosis, and that the I263 variant is protective against the disease.
Asunto(s)
Otosclerosis/genética , Polimorfismo de Nucleótido Simple , Factor de Crecimiento Transformador beta1/genética , Sustitución de Aminoácidos , Estudios de Casos y Controles , Susceptibilidad a Enfermedades , Variación Genética , Genética de Población , Genotipo , Haplotipos , Humanos , Modelos Biológicos , Otosclerosis/etnología , Otosclerosis/etiología , Fenotipo , Análisis de Secuencia de ADN , Población BlancaAsunto(s)
Emigración e Inmigración , Pérdida Auditiva Conductiva/etnología , Osteogénesis Imperfecta/etnología , Otosclerosis/etnología , Colágeno Tipo I/química , Colágeno Tipo I/genética , Fracturas Espontáneas/etnología , Fracturas Espontáneas/genética , Genes Dominantes , Pérdida Auditiva Conductiva/diagnóstico , Pérdida Auditiva Conductiva/genética , Humanos , Indígenas Sudamericanos/genética , Osteogénesis Imperfecta/diagnóstico , Osteogénesis Imperfecta/genética , Otosclerosis/diagnóstico , Otosclerosis/genética , Práctica Profesional , Esclerótica/patología , América del Sur/etnología , España/epidemiología , SíndromeRESUMEN
No disponible
Asunto(s)
Humanos , Emigración e Inmigración , Pérdida Auditiva Conductiva/etnología , Osteogénesis Imperfecta/etnología , Otosclerosis/etnología , Fracturas Espontáneas/etnología , Fracturas Espontáneas/genética , Genes Dominantes , Pérdida Auditiva Conductiva/diagnóstico , Pérdida Auditiva Conductiva/genética , Indígenas Sudamericanos , Osteogénesis Imperfecta/diagnóstico , Osteogénesis Imperfecta/genética , Otosclerosis/diagnóstico , Otosclerosis/genética , Esclerótica/patología , América del Sur/etnología , España/epidemiologíaRESUMEN
Otosclerosis is a disease of the otic capsule that is caused by abnormal resorption and redeposition of bony tissue. Sixty-two unrelated Japanese patients exhibiting clinical otosclerosis were typed for HLA-A, -B, -C antigens. Twenty-one of the patients were also typed for DR antigens. The frequency of HLA-Aw33 was significantly higher in otosclerosis patients than in the control group (24.2% vs 9.5%). This finding suggests that the presence of HLA-Aw33 antigens may be related to an increased susceptibility to otosclerosis or to its clinical outcome.
Asunto(s)
Pueblo Asiatico , Antígenos HLA/sangre , Otosclerosis/inmunología , Adolescente , Adulto , Distribución de Chi-Cuadrado , Susceptibilidad a Enfermedades , Femenino , Prueba de Histocompatibilidad , Humanos , Japón , Masculino , Persona de Mediana Edad , Otosclerosis/etnología , Fenotipo , VenasRESUMEN
A high-resolution computed tomography (HRCT) study on 55 patients with surgically confirmed clinical otosclerosis confirms the existence of cochlear otospongiosis among the Chinese. Positive radiographic results of cochlear otospongiosis (13 ears, 12%) were found in patients with mixed-type deafness but in none with conductive hearing loss. Although there is a positive correlation between audiologic and radiographic findings, the HRCT results showed a lower positive rate and less severity than anticipated from the audiologic results. However, compared with the occurrence and extension of radiographic findings in similar studies of white people, it would seem to support our previous contention that the disease is indeed milder in Chinese people. Cochlear otospongiosis with extensive labyrinthine demineralization was found in three young patients with rapidly progressive hearing loss. This is important evidence of the overlooked fact that cochlear otospongiosis may also be one of the causes of sensorineural hearing loss in the Chinese. Thus, a high index of suspicion of the existence of this inner ear disorder is of paramount importance, and in such cases an HRCT study should be performed and sodium fluoride given to prevent further hearing deterioration.
Asunto(s)
Enfermedades Cocleares/diagnóstico por imagen , Otosclerosis/diagnóstico por imagen , Adolescente , Adulto , Enfermedades Cocleares/etnología , Femenino , Humanos , Masculino , Persona de Mediana Edad , Otosclerosis/etnología , Taiwán , Tomografía Computarizada por Rayos XRESUMEN
Otosclerosis is a heritable disease affecting the otic capsule. Its genetics have been studied, but remain incompletely elucidated. Presented is a detailed analysis of the literature pertaining to the mode of inheritance and epidemiology of clinical and histologic otosclerosis. Consideration is given to connective tissue abnormalities found in association with the disease. The hypothesis that otosclerosis is an isolated manifestation of a generalized connective tissue disorder is discussed. The author also suggests that otosclerosis, rather than being a discrete entity, may represent a heterogeneous group of diseases.