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Molecular Genetics & Genomic Medicine Sep 2022Osteogenesis imperfecta type I (OI-I) is a rare genetic disorder characterized by skeletal deformity, bone fragility, blue sclerae, dentinogenesis imperfecta, and...
BACKGROUND
Osteogenesis imperfecta type I (OI-I) is a rare genetic disorder characterized by skeletal deformity, bone fragility, blue sclerae, dentinogenesis imperfecta, and hearing loss. The current study aimed to confirm the clinical diagnosis and genetic cause of OI-I in a four-generation Chinese family.
METHODS
Clinical investigation and pedigree analysis were conducted to characterize the phenotypic manifestations of a Chinese family with OI-I. Follow-up audiometry and imaging tests were used to evaluate the postoperative outcomes of stapes surgery in the proband with otosclerosis. Whole-exome sequencing (WES) and Sanger sequencing were used to identify the pathogenic gene variants and for cosegregating analysis.
RESULTS
We described in detail the clinical features of the collected family with autosomal dominant OI-I, and firstly identified a pathogenic splicing variant (c.2344-1G>T) in intron 33 of COL1A1 in a Chinese family. The molecular analysis suggested that the mutation might cause splice site changes that result in a loss of gene function. The proband, who suffered from otosclerosis and presented two-side middle-severe conductive hearing loss, benefitted significantly from successive bilateral middle ear surgery.
CONCLUSIONS
The diagnosis of OI-I in a Chinese family was established by clinical and genetic investigation. A heterozygous pathogenic splicing variant in COL1A1 was directly responsible for the bone fragility and hearing loss of this family. Otosclerosis surgery should be suggested to rehabilitate conductive hearing impairment in OI patients.
Topics: China; Collagen Type I; Hearing Loss; Humans; Osteogenesis Imperfecta; Otosclerosis; Pedigree
PubMed: 35855543
DOI: 10.1002/mgg3.2019 -
Ear, Nose, & Throat Journal Feb 2021The study is aimed to assess the scope of endoscopic stapedotomy in overcoming technical challenges faced during conventional stapedotomy using operating microscope.... (Randomized Controlled Trial)
Randomized Controlled Trial
The study is aimed to assess the scope of endoscopic stapedotomy in overcoming technical challenges faced during conventional stapedotomy using operating microscope. Sixty-four patients with clinical and audiological diagnosis of otosclerosis were randomly assigned into one of the 2 groups-one underwent conventional stapedotomy using operating microscope, while the other group underwent endoscopic stapedotomy, the operating surgeon being the same for both groups, for all cases. The 2 groups were observed in terms of extent of the postero-superior canal bone curettage/drilling, chorda tympani repositioning, visualization of footplate area, surgical time from first incision to ear packing, post-operative morbidity in terms of post-operative pain, vertigo, hearing outcome, and changes in taste sensation. It was observed that irrespective of the width of the external auditory canal, endoscopic approach offered better access to the footplate area requiring lesser bone removal and chorda tympani repositioning. The operating time, post-operative pain, and changes in taste sensation were significantly less in the endoscopic group. However, no difference was noted in terms of the post-operative hearing outcome and incidence of vertigo. Endoscopic stapedotomy has clear advantages in terms of the technicality and accessibility to the working area as well as faster recovery.
Topics: Adult; Chorda Tympani Nerve; Ear Canal; Endoscopy; Female; Hearing; Humans; Male; Microscopy; Microsurgery; Operative Time; Otosclerosis; Postoperative Period; Stapes Surgery; Treatment Outcome
PubMed: 31288532
DOI: 10.1177/0145561319862216 -
Ear, Nose, & Throat Journal Aug 2022Otosclerosis is a disease of the osseous labyrinth. The disease causes 5% to 9% of all cases of hearing loss and 18% to 22% of conductive hearing loss. The treatment of...
BACKGROUND
Otosclerosis is a disease of the osseous labyrinth. The disease causes 5% to 9% of all cases of hearing loss and 18% to 22% of conductive hearing loss. The treatment of choice is a surgery. The hearing improvement after the operation is determined by various factors.
AIMS/OBJECTIVES
The aim of the analysis is to determinate changes in hearing after stapedoplasty in view of surgery side in the patients operated on otosclerosis by right-handed surgeons.
MATERIAL AND METHODS
The analysis involved patients hospitalized and operated on otosclerosis between 2012 and 2018. Only patients with their first middle ear surgery due to otosclerosis were included in the study. The patients were operated by 2 right-handed surgeons who used the same surgical technique and had similar experience in otosclerosis surgery. The study included patients who were divided into 2 groups: with self-tightening prosthesis and with manually tightening prosthesis.
RESULTS
The procedure performed by right-handed operators on the left side using prostheses requiring manual fixation on the incus was associated with poorer audiometric results compared to the results of surgeries on the right side. In patients with the self-tightening prostheses, the audiometric improvement of hearing was bilaterally comparable independently from operation side.
CONCLUSION
(1) The dependence of hearing improvement on the surgery side was demonstrated in cases of surgeries performed on the left ear by right-handed surgeons, particularly with manually tightening prosthesis. (2) Self-tightening prostheses in stapedotomy limit the human factor, reducing the risk of complications after otosclerosis surgery and provide repeatable hearing improvement.
Topics: Bone Conduction; Hearing; Humans; Ossicular Prosthesis; Otosclerosis; Retrospective Studies; Stapes Surgery; Surgeons
PubMed: 35916230
DOI: 10.1177/0145561320967336 -
Brazilian Journal of Otorhinolaryngology 2020Otosclerosis is an idiopathic disease characterized by new bone formation in foci of the human otic capsule. It is more common in Caucasian populations; affecting...
INTRODUCTION
Otosclerosis is an idiopathic disease characterized by new bone formation in foci of the human otic capsule. It is more common in Caucasian populations; affecting females twice as often as males. Its etiopathogenesis has not yet been fully elucidated.
OBJECTIVE
The aim of this study was to investigate the relationship between otosclerosis and white blood cell and thrombocyte counts, mean platelet volume, neutrophil lymphocyte ratio, and the platelet lymphocyte ratio.
METHODS
This retrospective case-control study was conducted in the outpatient clinic Mustafa Kemal University, in the department of otolaryngology, between 2015 and 2018. A total of 30 patients with an established diagnosis of otosclerosis were compared to a control group of 30 healthy subjects, matched for age, gender and body mass index. The white blood cell, thrombocyte, mean platelet volume, neutrophil lymphocyte ratio and platelet lymphocyte ratio values were calculated for all participants.
RESULTS
There was no statistically significant difference between the groups with respect to age, gender, or body mass index, or for the mean neutrophil lymphocyte ratio, platelet lymphocyte ratio, white blood cell, or thrombocyte values (p>0.05). A statistically significant difference was determined between the groups for the mean platelet volume values. The mean platelet volume values were lower in the otosclerotic patients (p=0.047).
CONCLUSION
These results show that neutrophil lymphocyte ratio, platelet lymphocyte ratio, white blood cell and thrombocytes should not be used to predict otosclerosis, but suggest that mean platelet volume may be a negative predictive marker.
Topics: Case-Control Studies; Female; Humans; Lymphocyte Count; Lymphocytes; Male; Mean Platelet Volume; Neutrophils; Otosclerosis; Retrospective Studies
PubMed: 30926454
DOI: 10.1016/j.bjorl.2018.12.014 -
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 -
Cureus Sep 2023The applications of artificial intelligence (AI) in temporal bone (TB) imaging have gained significant attention in recent years, revolutionizing the field of... (Review)
Review
The applications of artificial intelligence (AI) in temporal bone (TB) imaging have gained significant attention in recent years, revolutionizing the field of otolaryngology and radiology. Accurate interpretation of imaging features of TB conditions plays a crucial role in diagnosing and treating a range of ear-related pathologies, including middle and inner ear diseases, otosclerosis, and vestibular schwannomas. According to multiple clinical studies published in the literature, AI-powered algorithms have demonstrated exceptional proficiency in interpreting imaging findings, not only saving time for physicians but also enhancing diagnostic accuracy by reducing human error. Although several challenges remain in routinely relying on AI applications, the collaboration between AI and healthcare professionals holds the key to better patient outcomes and significantly improved patient care. This overview delivers a comprehensive update on the advances of AI in the field of TB imaging, summarizes recent evidence provided by clinical studies, and discusses future insights and challenges in the widespread integration of AI in clinical practice.
PubMed: 37795060
DOI: 10.7759/cureus.44591 -
Cureus Feb 2023Otosclerosis, also known as otospongiosis, is a primary osteodystrophy of the otic capsule of the inner ear and one of the leading causes of deafness in adults. The... (Review)
Review
Otosclerosis, also known as otospongiosis, is a primary osteodystrophy of the otic capsule of the inner ear and one of the leading causes of deafness in adults. The rationale for medical therapy for otospongiosis is to slow down and eventually stop the phase of bone resorption. Conservative treatments include sodium fluoride (NaF), bisphosphonates, and other modern medicines. A systematic review of the existing and published articles and books until April 2021 has been conducted in Medscape, Google Scholar, PubMed, and other databases using appropriate terms. According to the results of the research, the administration of NaF for a period of at least six months stabilizes hearing thresholds (HTs), improves vestibular symptoms, and delays the worsening of tinnitus. The administration of bisphosphonates for a period of at least six months showed significant percentage differences in the improvement of hearing loss, dizziness, and tinnitus remission. In the already existing double-blind studies that were evaluated, groups of patients treated with bisphosphonates for at least 24 months showed greater stabilization of the mean air and bone conduction thresholds than groups of patients treated with a placebo. The new modern medications have not yet been widely administered clinically to draw useful conclusions, although the test results of some of their use are quite encouraging.
PubMed: 36923175
DOI: 10.7759/cureus.34850 -
Otology & Neurotology : Official... Jul 2019We hypothesize that internal auditory canal (IAC) diverticula occur independent of otosclerosis as demonstrated by temporal bone histopathology.
HYPOTHESIS
We hypothesize that internal auditory canal (IAC) diverticula occur independent of otosclerosis as demonstrated by temporal bone histopathology.
BACKGROUND
Diverticula at the anterior-inferior aspect of the IAC have been described histologically in the setting of cavitary otosclerosis. Recent radiographic studies show the prevalence of IAC diverticula that is higher than what can be accounted for by cavitary otosclerosis alone.
METHODS
We examined hematoxylin and eosin temporal bone histopathology slides with otosclerosis involving the IAC. We also examined bones from normal hearing subjects with normal histologic findings. Temporal bones were included if donors were more than 18 years of age at time of death and adequate horizontal cuts were available to evaluate the area of interest.
RESULTS
IAC diverticula were found in 33 of 47 (70%) temporal bones with IAC otosclerosis and in 5 of 20 (25%) normal temporal bones. The difference in mean pure tone averages (PTA) in the normal temporal bones with (PTA 7.3 ± 7) and without (PTA 8 ± 2) diverticula was not statistically significant (p = 0.86).
CONCLUSION
IAC diverticula which have been previously demonstrated to occur in the setting of cavitary otosclerosis can also occur independent from otosclerosis. Subjects with diverticula but without other temporal bone pathology have normal hearing thresholds.
Topics: Aged; Diverticulum; Ear, Inner; Female; Hearing; Hearing Tests; Humans; Male; Otosclerosis; Temporal Bone
PubMed: 31157724
DOI: 10.1097/MAO.0000000000002256 -
Indian Journal of Otolaryngology and... Dec 2022Otosclerosis is one of the common otologic diseases. The mechanism and the probable site of vestibular involvement are not yet fully understood. The present study aimed...
AIM
Otosclerosis is one of the common otologic diseases. The mechanism and the probable site of vestibular involvement are not yet fully understood. The present study aimed to perform a comprehensive vestibular evaluation in patients with otosclerosis, compared to the cases without otosclerosis.
MATERIALS AND METHODS
patients underwent a comprehensive cochleovestibular evaluation, including audiometry, ocular and cervical vestibular evoked myogenic potential (o-VEMP and c-VEMP), video head impulse (vHIT) and caloric tests. The results were compared with those obtained from the non-otosclerosis control group.
RESULTS
A total of 61 individuals were included in the study who were divided into two groups of the case (50.82%) and control (49.18%). The results showed that there was a significant difference in the mean vHIT gain between the case and control groups (P < 0.05). However, the gain was still within the normal range. Besides, the patients with otosclerosis had significant bilateral or unilateral weaknesses according to caloric test results. Moreover, their o-VEMP and c-VEMP results were significantly abnormal as well (P < 0.05).
CONCLUSION
Based on the results of the present study, the vestibular system even in asymptomatic cases, is affected by otosclerosis. Furthermore, it seems that the otolithic system has a higher chance of involvement, compared to the semicircular canals.
SUPPLEMENTARY INFORMATION
The online version contains supplementary material available at 10.1007/s12070-022-03147-5.
PubMed: 36514435
DOI: 10.1007/s12070-022-03147-5 -
Frontiers in Radiology 2022Otospongiotic plaques can be seen on conventional computed tomography (CT) as focal lesions around the cochlea. However, the resolution remains insufficient to enable...
PURPOSE
Otospongiotic plaques can be seen on conventional computed tomography (CT) as focal lesions around the cochlea. However, the resolution remains insufficient to enable evaluation of intracochlear damage. MicroCT technology provides resolution at the single micron level, offering an exceptional amplified view of the otosclerotic cochlea. In this study, a non-decalcified otosclerotic cochlea was analyzed and reconstructed in three dimensions for the first time, using microCT technology. The pre-clinical relevance of this study is the demonstration of extensive pro-inflammatory buildup inside the cochlea which cannot be seen with conventional cone-beam CT (CBCT) investigation.
MATERIALS AND METHODS
A radiological and a three-dimensional (3D) anatomical study of an otosclerotic cochlea using microCT technology is presented here for the first time. 3D-segmentation of the human cochlea was performed, providing an unprecedented view of the diseased area without the need for decalcification, sectioning, or staining.
RESULTS
Using microCT at single micron resolution and geometric reconstructions, it was possible to visualize the disease's effects. These included intensive tissue remodeling and highly vascularized areas with dilated capillaries around the spongiotic foci seen on the pericochlear bone. The cochlea's architecture as a morphological correlate of the otosclerosis was also seen. With a sagittal cut of the 3D mesh, it was possible to visualize intense ossification of the cochlear apex, as well as the internal auditory canal, the modiolus, the spiral ligament, and a large cochleolith over the osseous spiral lamina. In addition, the oval and round windows showed intense fibrotic tissue formation and spongiotic bone with increased vascularization. Given the recently described importance of the osseous spiral lamina in hearing mechanics and that, clinically, one of the signs of otosclerosis is the Carhart notch observed on the audiogram, a tonotopic map using the osseous spiral lamina as region of interest is presented. An additional quantitative study of the porosity and width of the osseous spiral lamina is reported.
CONCLUSION
In this study, structural anatomical alterations of the otosclerotic cochlea were visualized in 3D for the first time. MicroCT suggested that even though the disease may not appear to be advanced in standard clinical CT scans, intense tissue remodeling is already ongoing inside the cochlea. That knowledge will have a great impact on further treatment of patients presenting with sensorineural hearing loss.
PubMed: 37492684
DOI: 10.3389/fradi.2022.965474