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British Medical Journal Mar 1978
Topics: Humans; Otosclerosis; Risk; Stapes Surgery
PubMed: 630370
DOI: 10.1136/bmj.1.6115.790 -
Ear, Nose, & Throat Journal Jun 2018The incidence of otosclerosis in nonendemic patients is low, and preoperative diagnosis can be challenging. The aim of this study was to evaluate computed tomography...
The incidence of otosclerosis in nonendemic patients is low, and preoperative diagnosis can be challenging. The aim of this study was to evaluate computed tomography (CT) findings in patients with otosclerosis and determine their correlation with audiometric findings and surgical outcome in a nonendemic population. We retrospectively reviewed 17 patients from August 2011 to August 2013 with surgically confirmed otosclerosis who underwent preoperative high-resolution CT scans and pre- and postoperative audiometry. Otosclerotic foci were identified on the scans. The density ratio of these foci was calculated and compared with pre- and postoperative audiometric parameters. One patient with Paget disease was excluded from the study. A total of 19 ears were operated on and included in the data analysis. CT scans were normal in 4 ears (21.1%). Hypodense lesions were detected in the remaining 15 (78.9%) ears and the region of interest mapped out. The density ratio was obtained between the hypodense area and adjacent normal labyrinthine bone. No statistically significant correlation was found between the density ratio and any of the audiometric parameters tested (p > 0.05). The diagnosis of otosclerosis in nonendemic areas is challenging. A preoperative CT scan can be useful when otosclerotic foci are present. However, the density ratio of the otosclerotic foci did not correlate with audiometric parameters or surgical outcome.
Topics: Adult; Aged; Audiometry, Pure-Tone; Female; Humans; Male; Middle Aged; Otosclerosis; Postoperative Period; Retrospective Studies; Tomography, X-Ray Computed; Treatment Outcome
PubMed: 30036411
DOI: 10.1177/014556131809700612 -
Journal of Medical Genetics Jan 2024Otosclerosis is a common cause of adult-onset progressive hearing loss, affecting 0.3%-0.4% of the population. It results from dysregulation of bone homeostasis in the...
BACKGROUND
Otosclerosis is a common cause of adult-onset progressive hearing loss, affecting 0.3%-0.4% of the population. It results from dysregulation of bone homeostasis in the otic capsule, most commonly leading to fixation of the stapes bone, impairing sound conduction through the middle ear. Otosclerosis has a well-known genetic predisposition including familial cases with apparent autosomal dominant mode of inheritance. While linkage analysis and genome-wide association studies suggested an association with several genomic loci and with genes encoding structural proteins involved in bone formation or metabolism, the molecular genetic pathophysiology of human otosclerosis is yet mostly unknown.
METHODS
Whole-exome sequencing, linkage analysis, generation of CRISPR mutant mice, hearing tests and micro-CT.
RESULTS
Through genetic studies of kindred with seven individuals affected by apparent autosomal dominant otosclerosis, we identified a disease-causing variant in , encoding a key component of the PBAF chromatin remodelling complex. We generated CRISPR-Cas9 transgenic mice carrying the human mutation in the mouse orthologue. Mutant mice exhibited marked hearing impairment demonstrated through acoustic startle response and auditory brainstem response tests. Isolated ossicles of the auditory bullae of mutant mice exhibited a highly irregular structure of the incus bone, and their in situ micro-CT studies demonstrated the anomalous structure of the incus bone, causing disruption in the ossicular chain.
CONCLUSION
We demonstrate that otosclerosis can be caused by a variant in , with a similar phenotype of hearing impairment and abnormal bone formation in the auditory bullae in transgenic mice carrying the human mutation in the mouse orthologue.
Topics: Adult; Humans; Mice; Animals; Otosclerosis; Blister; Genome-Wide Association Study; Reflex, Startle; Hearing Loss; Phenotype; Mice, Transgenic; Mutation; DNA Helicases; Nuclear Proteins; Transcription Factors
PubMed: 37399313
DOI: 10.1136/jmg-2023-109264 -
Effects of Otosclerosis on Middle Ear Function Assessed With Wideband Absorbance and Absorbed Power.Ear and Hearing 2021Wideband absorbance and absorbed power were evaluated in a group of subjects with surgically confirmed otosclerosis (Oto group), mean age 51.6 years. This is the first...
OBJECTIVE
Wideband absorbance and absorbed power were evaluated in a group of subjects with surgically confirmed otosclerosis (Oto group), mean age 51.6 years. This is the first use of absorbed power in the assessment of middle ear disorders. Results were compared with control data from two groups of adults, one with normal hearing (NH group) mean age of 31 years, and one that was age- and sex-matched with the Oto group and had sensorineural hearing loss (SNHL group). The goal was to assess group differences using absorbance and absorbed power, to determine test performance in detecting otosclerosis, and to evaluate preoperative and postoperative test results.
DESIGN
Audiometric and wideband tests were performed over frequencies up to 8 kHz. The three groups were compared on wideband tests using analysis of variance to assess group mean differences. Receiver operating characteristic (ROC) curve analysis was also used to assess test accuracy at classifying ears as belonging to the Oto or control groups using the area under the ROC curve (AUC). A longitudinal design was used to compare preoperative and postoperative results at 3 and 6 months.
RESULTS
There were significant mean differences in the wideband parameters between the Oto and control groups with generally lower absorbance and absorbed power for the Oto group at ambient and tympanometric peak pressure (TPP) depending on frequency. The SNHL group had more significant differences with the Oto group than did the NH group in the high frequencies for absorbed power at ambient pressure and tympanometric absorbed power at TPP, as well as for the tympanometric tails. The greatest accuracy for classifying ears as being in the Oto group or a control group was for absorbed power at ambient pressure at 0.71 kHz with an AUC of 0.81 comparing the Oto and NH groups. The greatest accuracy for an absorbance measure was for the comparison between the Oto and NH groups for the peak-to-negative tail condition with an AUC of 0.78. In contrast, the accuracy for classifying ears into the control or Oto groups for static acoustic admittance at 226 Hz was near chance performance, which is consistent with previous findings. There were significant mean differences between preoperative and postoperative tests for absorbance and absorbed power.
CONCLUSIONS
Consistent with previous studies, wideband absorbance showed better sensitivity for detecting the effects of otosclerosis on middle ear function than static acoustic admittance at 226 Hz. This study showed that wideband absorbed power is similarly sensitive and may perform even better in some instances than absorbance at classifying ears as having otosclerosis. The use of a group that was age- and sex-matched to the Oto group generally resulted in greater differences between groups in the high frequencies for absorbed power, suggesting that age-related norms in adults may be useful for the wideband clinical applications. Absorbance and absorbed power appear useful for monitoring changes in middle ear function following surgery for otosclerosis.
Topics: Acoustic Impedance Tests; Adult; Audiometry; Ear, Middle; Hearing Loss, Sensorineural; Humans; Middle Aged; Otosclerosis
PubMed: 33156125
DOI: 10.1097/AUD.0000000000000968 -
BMC Medical Genetics Jun 2020Otosclerosis (OTSC) is among the most common causes of a late-onset hearing loss in adults and is characterized by an abnormal bone growth in the otic capsule.... (Meta-Analysis)
Meta-Analysis
BACKGROUND
Otosclerosis (OTSC) is among the most common causes of a late-onset hearing loss in adults and is characterized by an abnormal bone growth in the otic capsule. Alteration in the osteoprotegerin (OPG) expression has been suggested in the implication of OTSC pathogenesis.
METHODS
A case-control association study of rs2228568, rs7844539, rs3102734 and rs2073618 single nucleotide polymorphisms (SNPs) in the OPG gene was performed in a Tunisian-North African population composed of 183 unrelated OTSC patients and 177 healthy subjects. In addition, a multilocus association and a meta-analysis of existing studies were conducted.
RESULTS
Rs3102734 (p = 0.013) and rs2073618 (p = 0.007) were significantly associated with OTSC, which were predominantly detected in females after multiple corrections. Among the OPG studied SNPs, the haplotypes A-A-C-G (p = 0.0001) and A-A-C-C (p = 0.0004) were significantly associated with OTSC in females. Multilocus association revealed that the SNPs: rs2073618 in OPG, rs1800472 in TGFβ1, rs39335, rs39350 and rs39374 in RELN, and rs494252 in chromosome 11 showed significant OTSC-associated alleles in Tunisian individuals. In addition, meta-analysis of the rs2073618 SNP in Tunisian, Indian and Italian populations revealed evidence of an association with OTSC (OR of 0.826, 95% CI [0.691-0.987], p = 0.035).
CONCLUSIONS
Our findings suggest that rs3102734 and rs2073618 variants are associated with OTSC in North African ethnic Tunisian population. Meta-analysis of the rs2073618 in three different ethnic population groups indicated an association with OTSC.
Topics: Alleles; Case-Control Studies; Chromosome Mapping; Epistasis, Genetic; Female; Gene Frequency; Genetic Association Studies; Genetic Loci; Genetic Predisposition to Disease; Haplotypes; Humans; Linkage Disequilibrium; Male; Models, Biological; Odds Ratio; Osteoprotegerin; Otosclerosis; Polymorphism, Single Nucleotide; Reelin Protein
PubMed: 32493243
DOI: 10.1186/s12881-020-01036-8 -
Ear, Nose, & Throat Journal Sep 2023Surgical treatment of patients with far-advanced otosclerosis (FAO) has not yet been standardized. Patients with FAO are the candidates for stapes surgery or cochlear...
INTRODUCTION
Surgical treatment of patients with far-advanced otosclerosis (FAO) has not yet been standardized. Patients with FAO are the candidates for stapes surgery or cochlear implant (CI). Although many surgeons consider stapes surgery as the first choice, other authors prefer CI because of the excellent hearing results.
OBJECTIVE
The authors discuss their experience in the treatment of patients with FAO, potentially candidates for CI, who underwent stapedotomy.
MATERIALS AND METHODS
Eleven adult patients with FAO underwent stapedotomy from 2006 to 2016. Pure-tone average (PTA) between 0.5-1-2-3 kHz and speech perception test with hearing aids were determined before and after stapedotomy.
RESULTS
The results show a statistically significant improvement in air condition threshold (PTA) and satisfactory results with regard to speech recognition in 9 (81.8%) cases. Postoperative results are not influenced by the type of stapedotomy prosthesis employed and do not change during follow-up (3 years).
CONCLUSIONS
The authors suggest first performing stapes surgery in patients with FAO and reserving CI in case of failure.
Topics: Adult; Humans; Otosclerosis; Stapes Surgery; Cochlear Implantation; Hearing; Cochlear Implants; Treatment Outcome; Retrospective Studies; Audiometry, Pure-Tone
PubMed: 33971751
DOI: 10.1177/01455613211013093 -
American Journal of Otolaryngology 1987Otosclerosis is a bone disorder of unknown etiology confined to the otic capsule. Failure of remodeling of newly formed vascular, woven bone (otospongiosis) results in... (Review)
Review
Otosclerosis is a bone disorder of unknown etiology confined to the otic capsule. Failure of remodeling of newly formed vascular, woven bone (otospongiosis) results in sclerotic bone (otosclerosis) with abnormal osteons. Involvement of the oval window causes conductive hearing loss. Electron microscopic, histochemical, and biochemical studies identify normal cellular and matrix components of otosclerotic bone without providing clues to the abnormal bone formation and resorption. Plastic-embedded, nondecalcified histologic sections with in vivo tetracycline labels permit the study of mineralization rates to separate this disorder from other bone dyscrasias that have similar histopathologic appearances. Characterization of the cells, matrix, and their mediators can yield an understanding of abnormalities that disorder bone.
Topics: Animals; Bone and Bones; Disease Models, Animal; Female; Humans; Male; Osteoclasts; Otosclerosis; Rats; Stapes; Temporal Bone
PubMed: 3324781
DOI: 10.1016/s0196-0709(87)80046-7 -
AJNR. American Journal of Neuroradiology Nov 2017Focal low-attenuation outpouching or diverticulum at the anterolateral internal auditory canal is an uncommon finding on CT of the temporal bone. This finding has been...
BACKGROUND AND PURPOSE
Focal low-attenuation outpouching or diverticulum at the anterolateral internal auditory canal is an uncommon finding on CT of the temporal bone. This finding has been described as cavitary otosclerosis in small case reports and histology series. The purpose of this study was to establish the prevalence of internal auditory canal diverticulum and its association with classic imaging findings of otosclerosis and/or hearing loss.
MATERIALS AND METHODS
Temporal bone CT scans of 807 patients, obtained between January 2013 and January 2016, were retrospectively reviewed to identify internal auditory canal diverticula and/or classic imaging findings of otosclerosis. Clinical evaluations for hearing loss were reviewed for patients with internal auditory canal diverticula and/or otosclerosis.
RESULTS
Internal auditory canal diverticula were found in 43 patients (5%); classic otosclerosis, in 39 patients (5%); and both findings, in 7 patients (1%). Most temporal bones with only findings of internal auditory canal diverticula (91%) demonstrated hearing loss, with 63% of this group demonstrating sensorineural hearing loss. The hearing loss classification distribution was significantly different ( < .01) from that in the classic otosclerosis group and in the group with both diverticula and otosclerosis.
CONCLUSIONS
Internal auditory canal diverticula are not uncommon on CT examinations of the temporal bone and most commonly occur without classic imaging findings of otosclerosis. These lesions are associated with sensorineural hearing loss, and referral for hearing evaluation may be appropriate when present.
Topics: Adolescent; Adult; Aged; Aged, 80 and over; Diverticulum; Female; Hearing Loss, Sensorineural; Humans; Labyrinth Diseases; Male; Middle Aged; Otosclerosis; Prevalence; Retrospective Studies; Tomography, X-Ray Computed; Young Adult
PubMed: 28982792
DOI: 10.3174/ajnr.A5399 -
Journal of the Royal Society of Medicine Aug 1979
Topics: Animals; Austria; Deafness; England; Fenestration, Labyrinth; Guinea Pigs; History, 18th Century; History, 19th Century; History, 20th Century; Humans; Otosclerosis; Prostheses and Implants; Sodium Fluoride; Stapes Surgery
PubMed: 399645
DOI: 10.1177/014107687907200803 -
International Journal of Surgery Case... Jul 2022Hearing loss can result from a wide range of pathologies affecting patients of all ages. It may be due to abnormalities of the outer, middle or inner ear. In this...
Hearing loss can result from a wide range of pathologies affecting patients of all ages. It may be due to abnormalities of the outer, middle or inner ear. In this article, we present a case of a 50 years old female patient presenting to the ENT and Head & Neck surgery department of 20 August hospital, complaining of bilateral hearing loss, in whom clinical examination found right attical retraction pocket with scales and left normal tympanic membrane. Complementary investigations revealed the association of two distinct conditions, rarely described in literature: otosclerosis, and chronic otitis media with cholesteatoma in right ear and left otosclerosis. The challenge in this case was to determine the therapeutic strategy: start with left otosclerosis? the right cholesteatoma? simultaneously treat otosclerosis and cholesteatoma right?
PubMed: 35724500
DOI: 10.1016/j.ijscr.2022.107281