Conductive Hearing Loss Research Articles

Objective The aim of the study was to prospectively evaluate the clinical audiological outcomes as well as patient satisfaction following implantation with the Osia®2 System. Methods This is a prospective clinical study was conducted at high volume academic center of patients who underwent implantation of the Cochlear Osia®2 System. Audiological outcomes included pre- and post-operative assessments of pure-tone audiometry, speech discrimination scores, and self-reported hearing difficulties questionnaire. Results The surgical procedure and subsequent healing process proceeded without complications. We observed statistically significant improvements in audibility and speech understanding with the test device, compared to pre-operative conditions. The average gain across frequencies from 0.25 to 6 kHz was 39.17 db. Speech discrimination scores also showed an increase in scores' average from 64 ± 8 pre-operatively to 100 ± 8 post-operatively (p < .001). Additionally, the number of hearing issues assessed by the APHAB scale in various acoustic environments showed a statically significant decrease postoperative. The Global Score improved from 68.2 ± 5.53 pre-operatively to 27.3 ± 4.26 post-operatively. Conclusions The Osia®2 System proves to be a safe and effective alternative for hearing rehabilitation in patients with conductive hearing loss (CHL), mixed hearing loss (MHL), or single-sided deafness (SSD).

To develop and evaluate a computer vision (CV) method for extracting structured hearing threshold data from scanned audiogram test sheets stored in the electronic health record (EHR). Algorithm development and validation study using a contour-based CV pipeline. Tertiary academic health system. A total of 907 hand-filled audiogram test sheets (January 1, 2014, to December 31, 2022) were selected via stratified random sampling to ensure balanced representation of normal hearing, bilateral sensorineural, asymmetric sensorineural, conductive, and mixed hearing loss configurations. Thresholds for all symbols on the pure-tone plots were manually extracted to serve as ground truth. The CV pipeline accepted scanned audiograms in PDF format and returned estimated frequency (Hz) and threshold (dB HL) values for each symbol. Accuracy and mean absolute error in frequency and threshold between CV-estimated and human-labeled values on a test set of 30 audiograms comprising 618 thresholds. The CV pipeline consisted of 5 steps: image cropping, symbol detection via grayscale preprocessing and contour analysis, axis label detection using optical character recognition, coordinate calibration, and symbol digitization. Across test set audiograms, the mean absolute error was 136Hz for frequency and 1.3dB HL for threshold. Exact threshold accuracy exceeded 85% for unmasked air conduction symbols. CV can be used to accurately extract pure-tone threshold data from scanned audiogram test sheets without reliance on deep learning or manual preprocessing. The method offers a scalable solution for transforming legacy audiograms into structured data sets suitable for population-level hearing research, clinical decision support, and epidemiologic surveillance.

To describe a case of advanced otosclerosis complicated by third window phenomenon and emphasize the importance of preoperative CT imaging in advanced or revision otosclerosis, not only for assessing ossicular status and superior semicircular canal dehiscence (SSCD) but also for detecting abnormal otic capsule demineralization that may contribute to third window pathology. A 52-year-old male with bilateral otosclerosis, mixed hearing loss, and multiple prior ear surgeries, including a right-sided bone-anchored hearing aid (BAHA), presented for revision surgery. The patient underwent right-sided BAHA abutment removal with ossicular reconstruction using a Lippy bucket-handle prosthesis and left-sided revision stapedotomy with a new prosthesis and cartilage graft. Postoperative hearing outcomes were assessed via audiograms, with CT imaging used to evaluate persistent hearing loss in the left ear. Right ear revision surgery improved hearing by 50 dB at 250 to 500 Hz, closing air-bone gaps. Left ear surgery resulted in a 10-dB worsening in the 3 to 6 kHz range. CT imaging revealed fenestral and retrofenestral otospongiosis with cochlear-perilymphatic continuity, indicating a third window phenomenon contributing to persistent hearing loss. In cases of persistent conductive hearing loss, third window phenomenon due to otospongiosis should be considered despite proper prosthesis placement and absence of SSCD or perilymph fistula.

In bone conduction (BC) hearing, sound is transmitted directly to the cochlea via skull vibrations, bypassing the outer and middle ear. This provides a therapeutic option for patients with conductive or mixed hearing loss and single-sided deafness. Although finite-element models have advanced understanding of the mechanisms underlying BC, progress toward personalized treatment strategies remains limited by a lack of standardized, experimentally validated, subject-specific models. This study proposes a hierarchical validation framework to support the development and validation of individualized computational models of the human head under BC stimulation. The framework spans four anatomical levels: system, subsystems, structures, and tissues. This approach enables systematic acquisition of data from intact cadaver heads down to isolated material domains. To demonstrate the applications of the framework, an experimental study was conducted on a single cadaver head, targeting three levels: the intact head (system), extracted bone pieces (structures), and isolated cortical layers (tissues). Subsystems were not addressed. High-resolution photon-counting computed tomography (CT) and energy-integrating cone-beam CT were used to acquire anatomical data. One-dimensional laser Doppler vibrometry was used to capture vibrational responses of bone pieces and cortical layers under wet and dry conditions. Representative results were analyzed to assess the impact of preparation state on resonance behavior. Comparative analysis showed that photon-counting CT provided superior structural resolution compared with energy-integrating cone-beam CT, particularly at the full-head (system) level. Vibrational measurements at the structure and tissue levels from the same anatomical region revealed broadly consistent resonance vibration patterns, enabling comparison of resonance frequencies. The influence of hydration state and thickness reduction on vibrational behavior was highlighted. The proposed framework provides a scalable methodology for validation of subject-specific BC models with the potential for more accurate BC simulations based on the hypothesis of functional variability rooted in anatomical variability. Obvious use cases would include the development of improved hearing aid designs and personalized treatments. In parallel, a successful correlation of anatomical and functional variability can serve as inspiration for design principles of metamaterials.

The second generation of the Bonebridge (BB) bone conduction implant was shown to be a viable option even for younger children with conductive or mixed hearing loss. However, preoperative imaging often shows only small areas where the FMT (4.5mm) or screws (4.0mm) can be fully and safely inserted without the need to use lifts. Navigation systems allow precise placement of the device and prevent potential complications such as dural or vascular injuries. The latest version of the preoperative planning software Otoplan® allows to assess bone thickness and perform virtual implantation. Six children between 3 and 12years of age underwent BB implantation using Otoplan® with export of the planned BB position to a navigation system. Prior to an intraoperative cone beam CT (CBCT), 3 marker screws were placed in the temporal bone. Images were loaded into Otoplan® to virtually define the optimal BB position and export the corresponding model. CBCT scan and model were then loaded into an electromagnetic navigation system. The screws were used to accurately register the system, and the planned BB placement was projected onto the patient. BB implantation was performed accordingly and finally the marker screws were removed. Possible complications were monitored and the audiological success was measured using an age-appropriate speech test. Bone thickness at the screw location was over 4.0mm in every case, documenting the accuracy of the procedure. No medical complications occurred intraoperatively, during the immediate hospital stay, or up to and including the initial fitting 4-6weeks after implantation. Speech test results were greater than or equal to 90% in all measurable patients. Virtual implantation with Otoplan® can be loaded into a navigation system to mark the safe position of the screws on the temporal bone. Projecting the planned position onto the patient using navigation is a practical tool that can make implantation more reliable and safer for patients.

Otosclerosis is a progressive, autosomal dominant hereditary disease of temporal bone causing tinnitus, and conductive hearing loss. Stapes surgery is safe and effective treatment with evidence suggesting tinnitus improvement corelates with hearing restoration. This systematic review evaluates evidence related to tinnitus improvement and hearing restoration following stapedectomy. This systematic review was prepared in accordance with the Preferred Reporting Item for Systematic Review and Meta-Analysis-P statement. The search included bibliographic databases like MEDLINE, EMBASE, the Cumulative Index of Nursing and Allied Health Literature, and Cochrane Library from inception until June 2024. The review included all studies reporting tinnitus severity and hearing outcomes post-stapes surgery. Outcome measures were tinnitus severity, hearing improvement, and timeframe of improvement. This review was registered with PROSPERO (CRD42024566593). The initial search generated 609 studies from multiple databases, of which 22 studies involving 2233 patients were included. Due to heterogeneity in study design, patient population, and outcome measures used, pooling of data for meta-analysis was not feasible. Most of the studies were prospective in nature (77.3%), conducted in university hospitals (45.5%), and the average mean age of patients ranged from 18 to 75 years, predominantly females (60.7%). Most studies reported improvement of tinnitus severity post-stapes surgery 15.7% to 64% (median 46.3%), only fewer studies noted worsening among 2.9% to 11% patients. Hearing outcomes were consistently positive among majority of the studies, and only a small subset of patients reported no improvement or worsening. There was a moderate-to-strong relation between tinnitus improvement and air-bone gap (ABG) closure (32%), tinnitus resolution versus ABG closure (55%). More than 50% of the studies reported adherence to the Strengthening the Reporting of Observational Studies in Epidemiology quality assessment checklist. The systematic review indicates that stapes surgery improves degree of tinnitus severity and hearing outcomes and has moderate-to-strong correlation between resolution in tinnitus versus ABG closure. Most patients experienced significant improvement within 6 months.

Hearing loss (HL) affects more than 1.5 billion people worldwide and remains a leading cause of disability across the lifespan. While genetic predispositions, otitis media (OM), and cholesteatoma are well-recognized contributors, Eustachian tube dysfunction (ETD) is an underappreciated but pivotal determinant of auditory morbidity. By impairing middle ear pressure (MEP) regulation, ETD drives conductive hearing loss (CHL) through stiffness and mass-loading effects, contributes to sensorineural hearing loss (SNHL) via altered window mechanics and vascular stress, and produces mixed hearing loss (MHL) when these pathways converge. A characteristic clinical trajectory emerges in which conductive deficits often resolve quickly with restored ventilation, whereas sensorineural impairment requires prolonged, physiology-restoring intervention, resulting in transient or persistent MHL. This review integrates mechanistic insights with clinical manifestations, diagnostic approaches, and therapeutic options. Diagnostic frameworks that combine patient-reported outcomes with objective biomarkers such as wideband absorbance, tympanometry, and advanced imaging enable reproducible identification of ETD-related morbidity. Conventional treatments, including tympanostomy tubes and balloon dilation, offer short-term benefit but rarely normalize tubal physiology. In contrast, Eustachian tube catheterization (ETC) has emerged as a promising, mechanism-based intervention capable of reestablishing dynamic tubal opening and MEP regulation. Looking forward, integration of physiology-based frameworks with personalized diagnostics and advanced tools such as artificial intelligence (AI) may help prevent progression from reversible conductive deficits to irreversible SNHL or MHL.

Abstract Background Chronic otitis media (COM) is one of the leading causes of hearing impairment worldwide, mostly presenting with conductive hearing loss. However, some studies suggest the presence of associated sensorineural hearing loss due to cochlear involvement in a significant proportion of cases. The aim of our study was to analyze the factors associated with the development of sensorineural hearing loss (SNHL) in patients with the mucosal type of COM. Materials and methods Patients with unilateral inactive COM (mucosal type) were identified, and pure tone audiometry was done to find those with sensorineural or mixed hearing loss. A detailed history was taken to document demographic characteristics and various parameters, including duration of disease, tinnitus, frequency of active discharge, and any prior usage of ototoxic ear drops, along with a thorough clinical examination. Results One hundred twenty patients were recruited for the study. Both perforation size and disease duration were significant independent predictors of hearing impairment in the current study population and showed significantly higher odds of worsening the impairment. Duration of tinnitus and frequency of discharge demonstrated high collinearity with disease duration, indicating their dependence on the former. The statistical association was strong for the frequency of otorrhea, while the presence of complications demonstrated a moderate association. Correlation analyses revealed a monotonic, positive, and moderately strong relationship between hearing impairment and size of perforation (Spearman’s ρ = 0.581, 0.3 &lt; ρ &lt; 0.7), overall disease duration (ρ = 0.689), and duration of tinnitus (ρ = 0.378), suggesting a unidirectional worsening of hearing in larger perforations and with prolonged suffering. Conclusion A number of individual parameters were found to be associated with the development of SNHL and mixed hearing impairment in patients with the mucosal type of COM. The identification of these factors may therefore help to predict the risk of progression to mixed hearing loss. Early detection of the disease and prompt initiation of treatment may prove to be beneficial to avoid the same.

Active middle ear implants, particularly the Vibrant Soundbridge (VSB), represent an established audiological treatment option for children with conductive, sensorineural, or mixed hearing loss when conventional hearing aids are insufficient or cannot be worn. In addition to functional improvements, the assessment of health-related quality of life (HRQoL) is gaining increasing importance. While extensive data on quality of life exist for adults with cochlear implants, only a few methodologically heterogeneous studies have examined HRQoL in children with active middle ear implants. This protocol outlines the methodology for conducting a scoping review based on the Joanna Briggs Institute (JBI) guidelines, aiming to identify, systematically collect, and analyze the international evidence. Empirical studies published since 2012 will be included without restrictions regarding study design or quality. The results aim to provide a comprehensive understanding of the multidimensional aspects of quality of life in affected children and to serve as a foundation for future research as well as the development of needs-based clinical and educational interventions.

Congenital malformations of the middle ear, particularly those affecting the ossicular chain and stapes, are uncommon yet significant causes of conductive hearing loss. Here, we report a unique case of stapes malformation with an empty oval window and provide a review of the literature to contextualize our findings. We present the detailed diagnostic and therapeutic course of a 21-year-old female with unilateral conductive hearing loss, focusing on imaging, intraoperative findings, and management strategy. A comprehensive literature review (January 1950-January 2025) was undertaken in major databases. Preoperative high-resolution computed tomography (HRCT) revealed no apparent abnormalities. Exploratory tympanotomy, however, identified a malformed stapes located on the promontory, below an empty oval window covered by fibrous tissue. No bone was felt on palpation. In light of the risk for perilymphatic gusher and the moderate degree of hearing loss, surgical reconstruction was not performed. The patient was managed with hearing amplification, achieving satisfactory rehabilitation and no complications. Malformations of the stapes and oval window demonstrate significant anatomical variability and can be difficult to diagnose using imaging alone. Surgical exploration remains crucial, and in the setting of an empty oval window, a tailored, conservative approach may be favored to minimize morbidity.

This study investigates the audiological performance and user satisfaction of bone-anchored hearing aids (BAHA). It addresses four key aspects: comparison with conventional hearing aids, differences between percutaneous and transcutaneous devices, benefits in unilateral hearing loss, and the patient adaptation process. Between January 2023 and June 2024, 40 patients with conductive and mixed hearing loss received BAHA implants. Audiological evaluations included pure-tone and free-field audiometry, the Italian Matrix Sentence Test, and satisfaction questionnaires. BAHA significantly improved hearing thresholds, speech recognition, and signal-to-noise ratios compared to the unaided situation and to the conventional hearing aid use, with sustained benefits over 3 months. Questionnaire scores confirmed enhanced patient-reported outcomes. Significant improvements were noted in audiometric and subjective outcomes, with BAHA outperforming conventional hearing aids in noise. Percutaneous devices showed better high-frequency performance, but both systems provided similar speech-in-noise benefits. BAHA also enhanced binaural hearing in unilateral loss. Audiologic results at 3 and 6 months are similar: after 3 months BAHA use, adaptation is complete.

Abstract BACKGROUND. Otosclerosis is a common cause of conductive hearing loss in adults, most frequently treated with stapes surgery. However, the factors determining surgical success or failure remain controversial. OBJECTIVE. To identify clinical and surgical variables associated with surgical failure in patients undergoing stapes surgery for otosclerosis at a tertiary referral hospital in northwestern Mexico. MATERIAL AND METHODS. An observational, retrospective, cross-sectional study was conducted on 54 patients diagnosed with otosclerosis who underwent surgery between 2022 and 2024. Adult patients with preoperative and 6-month postoperative audiometry were included, while those without audiological follow-up were excluded. Sociodemographic, clinical, surgical, and audiometric variables were analyzed. Surgical failure was defined as a postoperative air–bone gap (ABG) &gt;10 dB. RESULTS. A total of 81.5% of patients achieved surgical success. No significant association was found between surgical failure and age, sex, comorbidities, smoking status, or the type of surgical visualization used. A higher risk of failure was identified in patients who underwent stapedectomy (OR = 13.6, p = 0.001) and in surgeries performed on the left ear. Hearing improved significantly: the global PTA decreased from 59.8 to 40.1 dB (p&lt;0.001, Cohen’s d=4.5). The ABG decreased across all analyzed frequencies, with large effect sizes. CONCLUSION. Stapes surgery is effective in improving hearing in patients with otosclerosis. Intraoperative decisions, particularly the choice of surgical technique (stapedotomy versus stapedectomy), significantly influence outcomes. These findings support stapedotomy as the preferred technique and highlight the importance of standardized audiometric follow-up.

This study evaluates the safety and efficacy of the Bonebridge BCI 601 and 602 bone conduction implants in our largest cohort to date of 355 patients. The patients had a wide age range and exhibited conductive, mixed, or single-sided deafness (SSD). All patients underwent Bonebridge implantation. Pre- and post-implantation evaluations included pure-tone audiometry, speech recognition tests, and free-field audiometry. Word recognition was measured using the Polish Monosyllabic Word Test, while speech reception in noise was assessed using the Polish Sentence Matrix Test. Subjective benefit was assessed using the APHAB questionnaire. Follow-up tests were performed 3-6 months after activation. Revision surgery was required in 17 patients (4.8%) due to complications, including implant removal in 5 cases. Reimplantation was successful in 4 of these. The APHAB questionnaire showed improved hearing function and all hearing tests also showed significant improvement. Active bone conduction implantation is an effective method for the rehabilitation of conductive hearing loss, mixed hearing loss, and unilateral deafness. This large cohort study confirms significant hearing improvement and subjective benefits. The low complication rate supports the reliability of the Bonebridge system.

IntroductionBone conduction hearing systems is a well-established treatment for patients with conductive or mixed hearing losses, such as conductive hearing loss caused by congenital aural atresia. Percutaneous bone conduction systems consist of a titanium fixture implanted in a temporal bone and a skin penetrating abutment connecting to an external sound processor. Implant design and surgical techniques have developed over time and while one-stage minimally invasive procedures have long been the standard in adult patients, the development has been more cautious in pediatric patients as they have been more prone to complications and implant loss. The purpose of this study was to collect systematic data from a pediatric population receiving a percutaneous bone conduction hearing device, the laser ablated Ponto BHX implant, in a one-stage surgical procedure.MethodsProspective, one-armed, observational cohort study of children undergoing surgery for a percutaneous bone conduction device with a laser ablated fixture. Outcomes were assessed at screening, during surgery, 7–10 days after surgery, 6–14 weeks after surgery, and 12 months after surgery. The primary outcome was implant stability over 12 months. Furthermore, implant survival, skin reactions, and audiological performance were evaluated, and implant survival was compared to a retrospective control cohort.ResultsFifteen study participants with a mean age of 6 years (range 3–12 years) were included. Three were bilaterally implanted, rendering a total of 18 implants. Implant stability showed a 10-point increase in mean implant stability measurements at 12 months, compared to at surgery. Four implants (22%) were lost before the 12-month follow-up, which was comparable to the retrospective cohort where the 12-month implant loss rate was 23%. Across the 12-month period, 8/18 implant sites had a maximum Holgers score of 0, indicating no skin reactions. The remaining implant sites had a maximum Holgers score of 1–3.ConclusionIn conclusion, this study shows safe and reliable outcomes using laser ablated fixtures for one stage surgery in a pediatric population.Public trial registrationClinicalTrials.gov, identifier: NCT03723161.

Background and Aim: Hearing impairment is the third leading cause of years lived with disability, particularly affecting children through language and speech delays, cognitive issues, and vestibular dysfunction. This study aimed to conduct both hearing and balance screenings for preschool children aged 4-6 years in Tehran, Iran. Methods: In this study, 384 children (180 boys and 204 girls) from the east of Tehran city during spring 2023 participated. After taking the children’s history and calculating their Body Mass Index (BMI), hearing screening were performed at screening, diagnostic, and intervention levels. Balance function was screened using the balance subtest of the short form of Bruininks-Oseretsky test of motor proficiency- second version (BOT-2). Results: Among 768 ears examined, the prevalence of hearing loss (HL) was 11.2%, ranging from slight to moderate HL. Conductive HL had the highest prevalence (9.1%), followed by sensori-neural HL (1.3%) and mixed HL (0.8%). Of these, only 3% sought intervention. The mean total balance scores for age groups of 4, 5, and 6 years were 22.05±3.40, 26.02±3.72, and 28.13±4.50, respectively. Boys, children with higher BMIs, those with HL, and those with lower physical activity had significantly lower balance scores (p&lt;0.05). Conclusion: Given the type and degree of HL in preschool children and its relationship with balance scores, routine universal hearing and balance screenings for preschool children is recommended. Additionally, it is recommended to increase awareness among parents, child instructors, and pediatric healthcare providers in Iran regarding the importance of hearing and balance screenings for preschool children.

Background and Aim: This study compared the American Academy of Otolaryngology- Head and Neck Surgery (AAO-HNS) criteria for Meniere’s Disease (MD) with vestibular staging methods that address inner ear progression, a consideration not found in the AAO- HNS criteria. Methods: A cross-sectional study recruited patients with MD, aged 18 to 60, from June 8, 2022, to March 20, 2023; however, we excluded patients with problems such as difficulty rolling their eyes, difficulty turning their head, conductive or mixed hearing loss, cental nerves system disorders, retrocochlear lesions, pregnancy, and receiving psychotropic drugs. Furthermore, patients with a history of labyrinthitis, vestibular migraine, stroke, benign positional vertigo, or bilateral vestibulopathy within the past 6 months were excluded. All patients were tested with audiometry, vestibular evoked myogenic potential, caloric test, and video head impulse test. Two neuro-otologists assessed and classified patients with MD according to the AAO-HNS (1990 and 2020) criteria. Results: Forty-two patients were enrolled. The correlation between vestibular staging and both AAO-HNS (1990 and 2020) criteria was medium (p=0.02 and p&lt;0.01, respectively). According to AAO-HNS 1995, 69% of definite MD cases were classified as stage C, whereas all probable MD cases and 30% of possible MD cases were categorized as stage B. Regarding AAO-HNS 2020, 70% of definite MD cases were classified as stage C, whereas 33.3% of probable MD cases were classified as stage B. Conclusion: Definite MD could predict pathology in the cochleo-sacculo-utricular and lateral canals (stage C), whereas probable MD could suggest that the lesion involved the cochleo-sacculo-utricular canal (stage B). Trial registration: This trial was registered at Thai Clinical Trials Registry on June 6, 2022 (TCTR20220606003).

IntroductionCholesteatoma remains a serious condition that poses a challenge to otolaryngologists around the world. It is found to be more aggressive in the pediatric group than in adults. If left untreated, the disease can be dangerous due to its ability to expand and destroy bones, leading to complications such as hearing loss, vestibular dysfunction, facial paralysis, and intracranial infections.ObjectiveTo find out the prevalence of cholesteatoma in the school-aged children of Nepal.MethodsThis is a retrospective study conducted within a span of 10 years from 2014 to 2024 in which all medical records of the school-based ear screening programs were studied. Data including personal details, brief history, and ear and audiometry findings were recorded. All suspected cases of cholesteatoma were reexamined under microscope at our institute, and only those with confirmed diagnosis of chronic otitis media (COM) with cholesteatoma were included in the study.ResultsOut of the total of 143,544 children screened, COM with cholesteatoma was diagnosed in 0.20% (n = 282), and COM in total in 7.56% (n = 10,853). Hearing loss was seen in 273 (96.81%) of the 282 cases, with conductive hearing loss being the most common type of hearing loss.ConclusionThere is a higher prevalence of cholesteatoma in Nepalese children. Early diagnosis with proper management helps reduce the chances of life-threatening complications. Thus, having regular screening programs in school children will help in reducing morbidity.

BackgroundX-linked deafness 2 (DFNX2) is a rare hereditary hearing loss characterized by progressive conductive and sensorineural hearing loss and a pathognomonic temporal bone deformity. DFNX2 is caused by mutations in the coding sequence or deletions upstream of POU3F4. Only 12 upstream deletions of POU3F4 associated with DFNX2 have been reported, and the precise mechanisms underlying its pathogenesis remain fully elucidated.MethodsWhole-genome Sequencing (WGS) and linkage analysis were performed to identify potential genetic etiologies. Gap-PCR and Sanger sequencing were used to validate candidate pathogenic variants and elucidate the breakpoints. Quantitative Polymerase Chain Reaction (qPCR) was conducted to evaluate the altered expression of both POU3F4 and its downstream target genes.ResultsHere, we identified a novel deletion approximately 795.5 kb in length, located about 140 kb upstream of POU3F4 in a large Chinese family. All patients are hemizygous for this deletion, and the breakpoints have been confirmed to be located at GRCh37(chrX): g.81840743_82636209. Additionally, qPCR analysis demonstrated a significant reduction in the expression levels of both POU3F4 and its downstream target genes in the affected patients, which had not been reported in previous studies. We expand the spectrum of pathogenic deletions upstream of POU3F4 associated with DFNX2.ConclusionThis study provides new molecular evidence that deletions upstream of POU3F4 can disrupt the expression of POU3F4 and its downstream target genes in humans. Our results also enhance the understanding of the pathogenic mechanisms underlying DFNX2 associated with these deletions, as well as the downstream gene networks of POU3F4.

This multicentric, retrospective study aimed to analyze the safety and effectiveness of the mAXIS Stapes Prosthesis, mLOOP Stapes Prosthesis, mZAM Stapes Prosthesis, and mFIX Stapes Prosthesis. Patients underwent stapes surgery and implantation of a mAXIS Stapes Prosthesis, mLOOP Stapes Prosthesis, mZAM Stapes Prosthesis, or mFIX Stapes Prosthesis (MED-EL, Innsbruck, Austria). The clinical data was retrospectively analyzed. Follow-up examination included access to medical records (for adverse events) of the patients, ear microscopy and pure-tone audiometry to determine the post-operative pure tone average of the frequencies 0.5, 1, 2 and 3kHz (PTA4). The post-operative PTA4 air bone gap (ABG) was used to evaluate the audiological outcome. A post-operative PTA4 ABG ≤ 20dB was defined as successful rehabilitation. A post-operative minimum and maximum follow-up period was not defined. 189 patients were implanted with a MED-EL stapes prosthesis mainly as treatment of hearing loss caused by otosclerosis. 188 (186 adults, 2 children; 57 conductive hearing loss (CHL), 131 mixed hearing loss (MHL)) patients were examined for adverse events (AEs). 168 (166 adults, 2 children, 51 CHL, 117 MHL) patients underwent audiological examination. Audiology: 110 (65.5%) patients achieved a post-operative PTA4 ABG ≤ 10dB. 154 (91.7%) patients achieved a post-operative PTA4 ABG ≤ 20dB and therefore successful rehabilitation. Individual bone conduction (BC) PTA4 thresholds were stable in 159 (94.6%) patients. AEs: 12 (6.4%, adults only) patients had 13 AEs. Clinical data demonstrated satisfactory audiological results after implantation of the mAXIS Stapes Prosthesis, mLOOP Stapes Prosthesis, mZAM Stapes Prosthesis, and mFIX Stapes Prosthesis. The MED-EL stapes prostheses are safe and effective. NCT05565339 (clinicaltrials.gov).

Endoscopic partial and total ossicular chain reconstruction in children: A multicentric study.