The Merits of Bilateral Application of Middle Ear Implants in Patients With Bilateral Conductive and/or Mixed Hearing Loss.

This study investigated sound localization abilities in patients with bilateral conductive and/or mixed hearing loss (BCHL) when listening with either one or two middle ear implants (MEIs). Sound localization was measured by asking patients to point as quickly and accurately as possible with a head-mounted LED in the perceived sound direction. Loudspeakers, positioned around the listener within a range of +73°/-73° in the horizontal plane, were not visible to the patients. Broadband (500 Hz-20 kHz) noise bursts (150 ms), roved over a 20-dB range in 10 dB steps was presented. MEIs stimulate the ipsilateral cochlea only and therefore the localization response was not affected by crosstalk. Sound localization was better with bilateral MEIs compared with the unilateral left and unilateral right conditions. Good sound localization performance was found in the bilaterally aided hearing condition in four patients. In two patients, localization abilities equaled normal hearing performance. Interestingly, in the unaided condition, when both devices were turned off, subjects could still localize the stimuli presented at the highest sound level. Comparison with data of patients implanted bilaterally with bone-conduction devices, demonstrated that localization abilities with MEIs were superior. The measurements demonstrate that patients with BCHL, using remnant binaural cues in the unaided condition, are able to process binaural cues when listening with bilateral MEIs. We conclude that implantation with two MEIs, each stimulating only the ipsilateral cochlea, without crosstalk to the contralateral cochlea, can result in good sound localization abilities, and that this topic needs further investigation.

P1-N1-P2 Cortical Auditory Evoked Potentials in Chronic Unilateral Acquired Conductive Hearing Loss in Adults.

BACKGROUND:  Chronic unilateral hearing loss causes imbalanced auditory input to the brain that triggers cortical reorganization. The effect of sensorineural hearing loss on the central auditory system (CAS) has been thoroughly studied, while there is a paucity of research on the effect of conductive hearing loss (CHL). The aim of this study was to assess the P1-N1-P2 cortical auditory evoked response potential (CAEP) in adult individuals with chronic acquired unilateral CHL. METHODS:  This study included 108 participants of both genders: 54 patients with unilateral chronic CHL who were compared to well-matched 54 controls. All were subjected to history-taking, otologic examination, basic audiological evaluation, and bone conduction N1-P2 CAEP. RESULTS:  The affected ears of the cases showed highly statistically significant shorter CAEPs N1, P2, N1-P2 latencies but not P1, and showed highly statistically significant larger N1, P2, N1P2, amplitude than the control group. Latencies decreased and amplitudes increased as the degree of CHL increased, but were not affected by patients' age, side, or duration of the CHL. Cases with tinnitus had statistically significant and worse results than those without tinnitus. CONCLUSION:  Unilateral chronic CHL might enhance neurocortical plasticity, with greater changes occurring at greater degrees of the CHL.

Feasibility and Outcomes of an Active Osseointegrated Bone Conduction Implant in Children as Young as 5 Years of Age.

INTRODUCTION: This study reviews the feasibility of implanting active osseointegrated bone conduction devices in young children, below the prior age for FDA indication (<12 years), which has recently been reduced to 5 years. Outcomes included differences in adverse event rates and operative time between two groups (<12 and 12 years or older). MATERIALS AND METHODS: This study is a retrospective review of children receiving active osseointegrated bone conduction devices at a tertiary referral center academic hospital. One hundred and twenty-four children received 135 active osseointegrated bone conduction devices (May 2018-March 2024). RESULTS: Of 135 devices, 77 (57%) were in children <12 years (mean age (SD) = 7.9 (2.0) years, range = 4.9-11.9 years) and 58 (43%) were in 12 years or older (mean age (SD) = 15.1 (1.7) years, range = 12-18 years). Adverse events were significantly higher in the older group, occurring in 8 (10%) of 77 devices in children <12 years and 15 (26%) of 58 devices in children 12 years and older (26%) (Fisher's exact test = 0.0217 at p < 0.05). Major adverse events occurred in 5/124 (4%) patients, with 2 in patients <12 years (2/73, 3%) and 3 in children 12 and older (3/51, 6%). The proportion of major events between groups was not significantly different (Fisher's exact test = 0.4, p < 0.05). Mean surgical time was significantly less (t = -2.8799, df = 120.26, p = 0.005) in the children <12 years (mean (SD) = 66.5 (22.4) min) compared to those 12 and over (mean (SD) = 78.32 (23.1) min). CONCLUSIONS: Implantation of active osseointegrated bone conduction devices is feasible in children as young as 5 years and demonstrates low rates of complication. Further miniaturization may allow even earlier safe intervention.

Characterization of hearing loss in pediatric patients with osteogenesis imperfecta.

INTRODUCTION: Osteogenesis imperfecta (OI) is a common heritable disorder affecting type 1 collagen. The sequelae of OI vary, but hearing loss is a significant complication with 46-58 % of patients having some degree of hearing loss. Previous studies have suggested patients with OI may have conductive, sensorineural, or mixed hearing loss. Majority of these studies focus on the adult population. OBJECTIVES: Identify a relationship between OI and hearing loss in the pediatric population. METHODS: The TriNetx Analytics Network, a federated health research network that aggregates the de-identified electronic health record data of over 78 million patients across the United States, was queried for patients 18 years old or younger with a diagnosis of OI. Patients in this group with diagnosis of sensorineural, conductive, or mixed hearing loss were recorded. Patients with diagnoses of congenital cytomegalovirus, congenital inner ear malformations, and noise-induced hearing loss were excluded from analysis. RESULTS: Out of 3256 patients 18 years old or younger with OI, 10.07 % (95 % CI: 9.06-11.16) had a history of any form of hearing loss, 5.71 % (95 % CI: 4.94-6.57) had conductive hearing loss, 3.01 % (95 % CI: 2.45-3.66) had sensorineural hearing loss, and 1.35 % (95 % CI: 0.98-1.81) had mixed hearing loss. Relative risks for diagnosis of any type of hearing loss, conductive hearing loss, sensorineural hearing loss, and mixed hearing loss were calculated: 5.90 (95 % CI 5.32-6.53), 5.08 (95 % CI 4.42-5.84), 6.18 (95 % CI 5.09-7.51), and 13.86 (95 % CI 10.33-18.59) respectively. DISCUSSION: This study is the largest to date that describes a relationship between OI and conductive, sensorineural, and mixed hearing loss. Pediatric patients with OI are almost five times as likely to have any type of hearing loss. There was a significant increased risk in each subgroup, but conductive hearing loss was the most common for hearing loss in children with OI. The highest risk subtype when compared to controls was mixed hearing loss.

Goodhill syndrome: a case report.

Conductive hearing loss with a normal tympanic membrane is a common reason for otolaryngology consultation, with otospongiosis being the most frequent cause and House syndrome being extremely rare, requiring systematic investigation. We report the case of a 31-year-old woman who presented with conductive hearing loss with a normal tympanic membrane. A temporal bone computed tomography (CT) scan confirmed a House-Goodhill syndrome due to fixation of the malleus head. Surgical intervention was considered to remove the attic bone synostosis with the malleus head, resulting in a significant clinical improvement. The Goodhill syndrome is a rare condition that causes hearing loss with a normal eardrum. The surgery can highly improve the hearing function.

Simulator Verification Is Potentially Beneficial for the Fitting of Softband Bone Conduction Hearing Devices in Young Children.

HYPOTHESIS: The current study employed a skull-simulator verification method to assess whether the output of softband bone conduction hearing devices (BCHDs) at the manufacturer's default settings deviated widely from the target determined by the fitting formula. BACKGROUND: Real ear analysis is utilized for the verification of the fitting of air conduction hearing devices (ACHDs) in a variety of institutions. This procedure, however, has not been used in the fitting of BCHDs, largely due to the difficulty of testing the output of these devices to temporal bones. Despite the availability of skull simulators, they have not been utilized clinically to measure BCHD output. MATERIALS AND METHODS: This prospective, single-center study enrolled 42 subjects, aged 3 months to 10 years, with microtia-atresia-associated mild-to-severe bilateral conductive hearing loss. Hearing sensitivity was evaluated behaviorally by pure tone audiometry (PTA) in 22 subjects 4 years or older (the PTA group), and by auditory brainstem response (ABR) in 20 subjects younger than 4 years (the ABR group). Following 6 months of subjects wearing the prescribed softband BCHDs, their dial level (DL) thresholds were reassessed while using their own BCHDs, configured with zero gain across all frequencies, functioning solely as a bone vibrator. These DL thresholds were inputted into the fitting formula, desired sensation level-bone conduction devices (DSL-BCD) for children, to obtain the target values of BCHD output. The simulator output of the BCHD programmed at the manufacturer's default setting was measured in response to speech presented at 55, 65, and 80 dB SPL, followed by gain adjustment based on the differences between the simulator output and the target. Aided speech intelligibility index (SII) was measured before and after the gain adjustment. RESULTS: The softband BCHDs at the manufacturer's settings generally had lower output than the prescribed target values. This difference was larger at low frequencies and low levels. Across the 12 points tested (four frequencies from 500 to 4000 Hz multiplied by three levels), 22 (52.3%) and 42 (100%) BCHDs had deviations of +7 and +5 dB, respectively, at one point or more. The gain adjustments reduced the deviation and improved the SII values at the two lower levels of speech presented. CONCLUSION: The simulator output of softband bone conduction hearing devices (BCHDs) with the manufacturer's settings may exhibit significant deviations from the formula. Objective output verification should be considered a beneficial step in BCHD fitting and is recommended when applicable.

Automated hearing loss type classification based on pure tone audiometry data.

Hearing problems are commonly diagnosed with the use of tonal audiometry, which measures a patient's hearing threshold in both air and bone conduction at various frequencies. Results of audiometry tests, usually represented graphically in the form of an audiogram, need to be interpreted by a professional audiologist in order to determine the exact type of hearing loss and administer proper treatment. However, the small number of professionals in the field can severely delay proper diagnosis. The presented work proposes a neural network solution for classification of tonal audiometry data. The solution, based on the Bidirectional Long Short-Term Memory architecture, has been devised and evaluated for classifying audiometry results into four classes, representing normal hearing, conductive hearing loss, mixed hearing loss, and sensorineural hearing loss. The network was trained using 15,046 test results analysed and categorised by professional audiologists. The proposed model achieves 99.33% classification accuracy on datasets outside of training. In clinical application, the model allows general practitioners to independently classify tonal audiometry results for patient referral. In addition, the proposed solution provides audiologists and otolaryngologists with access to an AI decision support system that has the potential to reduce their burden, improve diagnostic accuracy, and minimise human error.

Long-term follow-up of otitis media with effusion in neonatal hearing screening.

OBJECTIVES: Increased neonatal referral rate of conductive hearing loss (CHL) related to otitis media with effusion (OME) following universal neonatal hearing screening (UNHS) may cause an unnecessary clinical, emotional, and financial burden. This study analyzes the long-term, audiological, and medical characteristics of CHL associated with OME in neonates in order to establish a standardized protocol following technology-driven improvements in detection and referral rates in UNHS. METHODS: A retrospective study of all neonates with OME-related CHL referred to the University Hospital of Leuven (Belgium) after failing UNHS with the MAICO devices between January 1, 2013 and December 31, 2021 was performed. Follow-up consultations, auditory tests, referral side, birth month, hearing loss degree, underlying pathologies and risk factors, time to normalization, and need for ventilation tubes were assessed. RESULTS: The incidence of CHL related to OME was stable between 2013 and 2021. Of all referred infants with OME, 52.3 % demonstrated spontaneous recovery. The average time to hearing normalization was significantly longer in children with underlying congenital pathologies compared to those without. Moreover, 74.4 % of these children received ventilation tubes compared to 32.0 % of children without underlying pathologies. No correlation was found between the incidence of OME-related CHL with either a hearing loss degree, admission to neonatal intensive care, or history of a nasogastric feeding tube. CONCLUSIONS: In children who failed UNHS due to OME, hearing recovers spontaneously without surgical intervention in 2/3 of the infants without underlying conditions within one year. In children with underlying congenital disorders, the time to hearing recovery is longer and the risk for surgical intervention is higher, underlining the need for implementing a UNHS standardized protocol.

Modification of skin incision for Baha Attract System Implantations.

<b><br>Introduction:</b> In an era of wide accessibility to various systems for hearing impairment prosthetics, there exists a broad spectrum of surgical techniques facilitating system implantation.</br> <b><br>Aim:</b> The aim of the study is to present the technique of vertical incision in the implantation of the Baha Attract magnetic system as an alternative incision, maintaining a compromise between optimizing the surgical procedure and preserving the functionality and quality of life of the patient.</br> <b><br>Materials and methods:</b> The vertical incision technique is presented based on 5 patients treated between December 2022 and March 2023 diagnosed with conductive or mixed hearing loss.</br> <b><br>Results:</b> There were no adverse consequences or complications resulting from the performed surgical incision. All patients experienced uncomplicated healing. Patients are using sound processor magnets ranging from 4-5 in strength and Baha 6 Max sound processors weighing 11.5 g.</br> <b><br>Conclusions:</b> The vertical incision technique serves as an alternative to the C-shaped perimeter incision, allowing for the optimization and standardization of the surgical procedure, resulting in a smooth scar formation and maintaining good audiological and aesthetic outcomes.</br>.

Bone mineral density of the incus body and long process in patients with chronic otitis media and its relationship with functional outcome in type II tympanoplasty.

BACKGROUND: Inflammatory conditions such as chronic otitis media (COM) can cause irreversible impairments in the microarchitecture and functions of the incus, which subsequently leads to conductive hearing loss. OBJECTIVES: To investigate bone mineral density (BMD) of the incus body (IB) and long process (ILP) on preoperative temporal CT in COM patients with and without incudo-stapedial joint discontinuity (ISJD), and also to determine the association between BMD values and the postoperative air-bone gap (ABG) in the ISJD group. MATERIAL AND METHODS: The mean IB density (IBD)/occipital bone density (OBD) and ILP density (ILPD)/OBD values were compared between the patients with and without ISJD. The correlation between ABG gain and preoperative incus density values was assessed in the ISJD group. RESULTS: The mean IBD/OBD and ILPD/OBD values were significantly higher in patients with intact ISJ. There was a moderate positive correlation between postoperative ABG gain and ILPD/OBD values in the ISJD group. CONCLUSION AND SIGNIFICANCE: The decrease in BMD of the incus may involve ILP as well as IB in patients with ISJD caused by ILP lysis in COM. A higher preoperative ILPD/OBD was correlated with a higher postoperative ABG gain in COM patients with ISJD.

Staged implantation of active transcutaneous bone conduction hearing devices (BCHD) after explantation of older generation bone anchored hearing aids (BAHAs): Surgical outcomes and approach to management.

PURPOSE: To evaluate outcomes following explantation of percutaneous or transcutaneous bone conduction implants (pBCIs or tBCIs) and subsequent implantation of transcutaneous active bone conduction hearing devices (BCHDs); to provide guidance regarding staging of surgery and adjunctive procedures. MATERIALS AND METHODS: Retrospective chart review of eight adult subjects (ten ears) with pBCIs or tBCIs who underwent explantation of their device and subsequent implantation with a BCHD [MED-EL BONEBRIDGE™ (n = 7, 70 %) or Cochlear™ Osia® (n = 3, 30 %)]. RESULTS: Reasons for pBCI or tBCI explantation were pain (60 %, 6/10), infection (60 %, 6/10), skin overgrowth (50 %, 5/10), and inability to obtain new processors (20 %, 2/10). Median time between pBCI or tBCI removal and BCHD staged implant was 4.7 (IQR 2.2-8.1) months. Two subjects developed complications following BCHD implantation. One had a persistent wound overlying the osseointegrated screw after removal of the pBCI abutment, requiring removal and temporalis rotational flap. Staged Osia® implantation was performed, but ultimately wound dehiscence developed over the device. The second subject experienced an infection after BONEBRIDGE™ implantation (32 days after pBCI explant), necessitating washout and treatment with intravenous antibiotics. There was subsequent device failure. CONCLUSION: The transition from a pBCI or tBCI to a novel transcutaneous device is nuanced. Staged pBCI or tBCI explantation and novel BCHD implantation with sufficient time for wound healing is vital. Adjunctive procedures to augment soft tissue in cases of prior attenuation may be required to avoid complications with larger internal devices.

Otolaryngology outcomes of infants with conductive hearing loss identified through universal newborn hearing screening.

OBJECTIVE: Infants and children diagnosed with a conductive hearing loss (CHL) are often referred for otolaryngology assessment. Although this is also a regular occurrence for infants diagnosed with a CHL through Universal Newborn Hearing Screening (UNHS), less is known about these infants and their outcomes. Using a cohort of infants diagnosed with CHL through UNHS and referred to otolaryngology, this study aimed to investigate the relationship between specific demographic or clinical characteristics and 1) triage category 2) middle ear diagnosis and intervention and, 3) service-related factors at otolaryngology. METHODS: Retrospective analysis through clinical chart review was performed on all infants born between January 2014 and December 2017 who referred on UNHS, diagnosed with a CHL and referred to the Queensland Children's Hospital. Descriptive analysis and Chi squared analysis was conducted on data from 95 records. RESULTS: Analysis between all infants referred from UNHS and those who referred, diagnosed with CHL and then referred to otolaryngology suggest that bilateral referrals/medical exclusion, preterm and infants with ≥1 risk factors are more readily associated with referral to otolaryngology for CHL. Nearly all (92.86 %) infants who were referred to otolaryngology had a primary diagnosis of OM and most infants (89.66 %) received grommets as an intervention. The average age of first appointment at otolaryngology was 427 days, the average age of intervention was 579 days and the average occasions of service at otolaryngology was 6.72. CONCLUSION: This paper provides a snapshot into the journey and outcomes of infants referred from UNHS, diagnosed with CHL, and referred to otolaryngology. Further investigation in both general and UNHS populations is needed to better understand and apply these findings.

Efficacy of vibrant sound bridge in congenital aural atresia: an updated systematic review.

PURPOSE: The indications of Vibrant Soundbridge (VSB) have been expanded to include patients with conductive and mixed hearing loss due to congenital aural atresia (CAA). However, the current evidence supporting the auditory outcomes of VSB is based mainly on case reports and retrospective chart reviews. Therefore, the present systematic review aims to summarize and critically appraise the current evidence regarding the safety and effectiveness of VSB in children and adult patients with CAA. METHODS: A systematic literature search retrieved studies that evaluated the outcomes of unilateral or bilateral implantation of VSB in patients with CAA. The bibliographic search was conducted in PubMed, Scopus, EBSCO, and Cochrane Central Register of Controlled Trials (CENTRAL) databases from January 2000 to December 2022. RESULTS: Twenty-seven studies were included in the present systematic review. Overall, the speech perception after VSB was good, with a mean word recognition score (WRS) score ranging from 60 to 96.7%. The mean postoperative speech recognition threshold (SRT) after implantation ranged from 20.8 to 50 dB. The effective gain was reported in 15 studies, ranging from 31.3 to 45.5 dB. In terms of user satisfaction with VSB, the included studies showed significant improvements in the patient-reported outcomes, such as the Speech Spatial and Qualities of Hearing scale and Glasgow Hearing Aid Benefit Profile. The VSB implantation was generally safe with low incidence of postoperative complications. CONCLUSION: VSB provides significant benefits to individuals with hearing loss owing to CAA, with very good subjective outcomes and a low risk of complications.

The presence of a submucous cleft palate in patients with isolated cleft lip and middle ear dysfunction.

PURPOSE: Recent studies have suggested that children with an isolated cleft lip (CL) are more likely to develop middle ear disease and eustachian tube dysfunction (ETD) compared to the general population. This may be related to abnormal palatal musculature or an undiagnosed submucosal cleft palate (SMCP). We aim to determine the prevalence of SMCP in patients with CL who exhibit ETD. MATERIALS AND METHODS: A retrospective chart review was performed for children with an isolated CL requiring tympanostomy tubes over a 20-year period at an academic tertiary care medical center. Demographic, clinical, and surgical data were collected. RESULTS: Three hundred twelve patients had an isolated CL, and 29 (9.3 %) children required tympanostomy tubes. Of those, nine (31 %) were found to have a SMCP (7 males, 6 Caucasian). The average age at CL repair was 3.94 ± 1.03 months, and the average age at tympanostomy tube placement was 13.68 ± 13.8 months. All nine patients had chronic otitis media, with four having mild conductive hearing loss and three having moderate conductive hearing loss. The SMCP was diagnosed at the time of CL diagnosis (4), after CL diagnosis with the diagnosis of chronic otitis media/ETD (2) and after a diagnosis of chronic otitis media/ETD. CONCLUSION: Middle ear disease or eustachian tube dysfunction in a patient with an isolated cleft lip should raise suspicion for an accompanying undiagnosed SMCP.

Binaural hearing in monaural conductive or mixed hearing loss fitted with unilateral Bonebridge.

Objective: To determine the benefits of binaural hearing rehabilitation in patients with monaural conductive or mixed hearing loss treated with a unilateral bone conduction implant (BCI). Methods: This monocentric study includes 7 patients with monaural conductive or mixed hearing loss who underwent surgical implantation of a unilateral BCI (Bonebridge, Med-El). An ITA Matrix test was performed by each patient included in the study - without and with the BCI and in three different settings - to determine the summation effect, squelch effect and head shadow effect. Subjective hearing benefits were assessed using the Abbreviated Profile of Hearing Aid Benefit (APHAB) questionnaire. Results: The difference in signal to noise ratio of patients without and with BCI was 0.79 dB in the summation setting (p < 0.05), 4.62 dB in the head shadow setting (p < 0.05) and 1.53 dB (p = 0.063) in the squelch setting. The APHAB questionnaire revealed a subjective discomfort in the presence of unexpected sounds in patients using a unilateral BCI (aversiveness score) compared to the same environmental situations without BCI, with a mean discomfort score of 69.00% (SD ± 21.24%) with monaural BCI versus 25.67% (SD ± 16.70%) without BCI (difference: -43.33%, p < 0.05). In terms of global score, patients wearing a unilateral Bonebridge implant did not show any significant differences compared to those without hearing aid (difference: -4.00%, p = 0.310). Conclusions: Our study shows that the use of a unilateral BCI in patients affected by monaural conductive or mixed hearing loss can improve speech perception under noise conditions due to the summation effect and to the decrease of the head shadow effect. However, since monaural BCIs might lead to discomfort under noise conditions in some subjects, a pre-operative assessment of the possible individual benefit of a monaural BCI should be carried out in patients affected by unilateral conductive or mixed hearing loss in order to investigate the possible additional effect of the fitting of hearing aids.

[Clinical analysis of ear symptoms of 40 patients with ANCA-associated vasculitis].

Objective:To analyze the clinical feature, diagnosis and treatment of Anca-associated vasculitis with ear symptoms. Methods:In this retrospective study, we summarized the clinical and laboratory examination, pure tone audiometry, aural immittance measurement, CT scan of temporal bone and treatment of 40 patients in the First Medical Center of the PLA General Hospital. Results:A total of 11 cases（27.5%） had the initial symptom in the ear. The most common symptoms were hearing loss, and the other symptoms included a sense of ear fullness, otorrhea and tinnitus. There were 35 cases with hearing loss: 19 cases with conductive hearing loss（47.5%）, 9 cases with sensorineural hearing loss（22.5%）, and 7 cases with mixed hearing loss（17.5%）. 5 cases had a sense of ear fullness or tinnitus, and the results of the hearing test were normal（12.5%）. All of the 40 patients had multi-system involvement, and respiratory system accounted for the most. All patients had a positive result of Anti-neutrophil cytoplasmic antibody（ANCA）. Treatment included systemic hormonal, immunosuppressive, or biologic therapy. There were 3 cases recovered（7.5%）, 22 cases with alleviated ear symptoms（55.0%）, 6 cases with recurrent hearing loss（15%） and 9 cases had no significant improvement（22.5%）. Conclusion:Conductive deafness（secretory otitis media） can be the first manifestation in the early stage of otitis media with AAV（OMAAV）, later it may turn to binaural mixed deafness. Otolaryngologists need to consider OMAAV diagnosis when diagnosing and treating patients with recurrent secretory otitis media. Multi-system symptom consultation and ANCA examination can help identify. Early systemic medication and the application of immunosuppressants or biological agents can help relieve the ear symptoms.

Interest of computer tomography in the study of prognostic factors of otosclerosis.

BACKGROUND: Otosclerosis is a primary osteodystrophy of the otic capsule that causes stapedo-vestibular ankylosis. Its diagnosis is suspected on the basis of clinical and audiometric elements, basically in the presence of conductive hearing loss with a normal eardrum. The CT-scan is an essential examination for the preoperative evaluation of otosclerosis. The aim of our study was to evaluate the use of CT-scanning in predicting the functional outcome of otosclerosis surgery by correlating postoperative audiometric results and preoperative CT findings. METHODS: We conducted a retrospective study at the ENT Department in association with the Medical Imaging Department of our hospital, over a period of 8 years, from January 2014 to December 2022 and involving 90 patients (104 ears). RESULTS: The average age of our patients was 40 years with extremes ranging from 22 to 61 years. We noted a sex ratio of 0.38. The preoperative CT-scan showed signs of otosclerosis in 87% of the cases and infra-radiological forms in 13% of the cases. Veillon stage II was the most frequent radiological stage encountered with a percentage of 48%. A good audiometric evolution, defined by a closure of postoperative Air Bone Gap (ABG ≤ 20 dB) and by an improvement of Bone Conduction (BC gain ≥ 0), was recorded in 86 cases (82.7%) for ABG and in 84 cases (80.8%) for BC gain. Scanographic predictive factors of poor postoperative outcome for ABG and BC gain were: advanced stages (Veillon stage III and IV), endosteal effraction, and round window involvement. According to multivariate analysis, only the extent of otosclerotic foci was directly and independently associated with the postoperative audiometric outcome. CONCLUSION: The CT-scan is an essential examination in the preoperative evaluation of otosclerosis. It allows a positive diagnosis to be made and evaluate the extension of otosclerosis. Moreover, thanks to the analysis of the extent of the otosclerosis foci, mainly by the Veillon classification, the CT-scan allows to predict the postoperative audiometric prognosis.

Two novel pathogenic variants in the TCOF1 found in two Chinese cases of Treacher Collins syndrome.

BACKGROUND: Treacher Collins Ι syndrome (TCS1, OMIM:154500) is an autosomal dominant disease with a series of clinical manifestations such as craniofacial dysplasia including eye and ear abnormalities, small jaw deformity, cleft lip, as well as repeated respiratory tract infection and conductive hearing loss. Two cases of Treacher Collins syndrome with TCOF1(OMIM:606847) gene variations were reported in the article, with clinical characteristics, gene variants and the etiology. METHODS: The clinical data of two patients with Treacher Collins syndrome caused by TCOF1 gene variation were retrospectively analyzed. The whole exome sequencing (WES) was performed to detect the pathogenic variants of TCOF1 gene in the patients, and the verification of variants were confirmed by Sanger sequencing. RESULTS: Proband 1 presented with bilateral craniofacial deformities, conductive hearing loss and recurrent respiratory tract infection. Proband 2 showed bilateral craniofacial malformations with cleft palate, which harbored similar manifestations in her family. She died soon after birth due to dyspnea and feeding difficulties. WES identified two novel pathogenic variants of TCOF1 gene in two probands, each with one variant. According to the American College of Medical Genetics and Genomics, the heterozygous variation NM_001371623.1: c.877del (p. Ala293Profs*34) of TCOF1 gene was detected in Proband 1, which was evaluated as a likely pathogenic (LP) and de novo variant. Another variant found in Proband 2 was NM_001135243.1: c.1660_1661del (p. D554Qfs*3) heterozygous variation, which was evaluated as a pathogenic variation and the variant inherited from the mother. To date, the two variants have not been reported before. CONCLUSION: Our study found two novel pathogenic variants of TCOF1 gene and clarified the etiology of Treacher Collins syndrome. We also enriched the phenotypic spectrum of Treacher Collins syndrome and TCOF1 gene variation spectrum in the Chinese population, and provided the basis for clinical diagnosis, treatment and genetic counseling.