Significant Hearing Improvement Research Articles

Endoscopic Surgery for a Case of Congenital Cholesteatoma with Ossicular Chain Anomaly.

The simultaneous occurrence of congenital ossicular anomalies and congenital cholesteatoma (CC) is exceedingly rare. This report describes the case of an 11-year-old boy who presented with conductive hearing loss, characterized by an average air conduction threshold of 50 dB in the left ear, without any prior otologic history. Preoperative assessments suggested the presence of CC, with suspicion of ossicular chain malformation. The patient underwent ear endoscopic surgery, during which the lesion was excised, and the ossicular chain was reconstructed using a titanium ossicular prosthesis. Postoperative follow-up indicated successful healing, with a significant improvement in hearing, as demonstrated by a reduction in the air conduction threshold to 15 and a hearing gain of 35 dB.

Perfusion Steroid via Ventilation Tube as Salvage Treatments for Sudden Sensorineural Hearing Loss.

Objectives: Intratympanic steroid injection (ISI) for sudden sensorineural hearing loss (SSNHL) is a relatively popular and effective method, but there is no standardized method for intratympanic steroids for the treatment of SSNHL and no consensus on how to deliver steroids to the middle ear. The purpose of this study was to compare 2 means of intratympanic steroid delivery as therapy for SSNHL. Methods: A retrospective chart review was performed for the period from November 2018 to October 2022 at our Department of Otorhinolaryngology-Head and Neck Surgery. Sixty patients with profound SSNHL who have failed initial steroid therapy were divided into the continuously transtympanic steroid perfusion (TSP) therapy and the intermittent ISI therapy. Results: Posttreatment pure-tone average was 60.3 ± 18.2 dB in the TSP group and 67.5 ± 22.6 dB in the ISI group, 70.0% of subjects in the TSP group, and 46.7% of subjects in the ISI group had improved by 15 dB or more after the therapy. The increased hearing threshold of the TSP group (24.6 ± 14.1 dB) was better than the ISI group (16.6 ± 14.9 dB), and the hearing recovery was significantly different (P < .05) in the 2 groups. Besides the hearing improvement was most obvious in low-frequency areas in the TSP group, the most significant hearing improvement was at 250 Hz, reaching 30.8 ± 3.3 dB. Conclusions: In SSNHL patients who have failed initial steroid therapy, TSP therapy via a ventilation tube can achieve good hearing outcomes and serve as a salvage therapy for patients with SSNHL.

Anatomy-based fitting improves speech perception in noise for cochlear implant recipients with single-sided deafness

Abstract Objective To evaluate objective and subjective hearing outcomes in experienced cochlear implant users with single sided deafness (SSD CI) who used fitting maps created via anatomy-based fitting (ABF) and clinically-based fitting (CBF). Participants Twelve SSD CI users with postlingual hearing loss. Intervention OTOPLAN (Version 3. (MED-EL) was used to determine intracochlear electrode contact positions using post-operative high-resolution flat panel volume computed tomography. From these positions, the corresponding center frequencies and bandwidths were derived for each channel. These were implemented in the clinical fitting software MAESTRO to yield an ABF map individualized to each user. Main Outcome Measures ABF and CBF maps were compared. Objective speech perception in quiet and in noise, binaural effects, and self-perceived sound quality were evaluated. Results Significantly higher speech perception in noise scores were observed with the ABF map compared to the CBF map (mean SRT50: -6.49 vs. -4.8 dB SNR for the S0NCI configuration and − 3.85 vs. -2.75 dB SNR for the S0N0 configuration). Summation and squelch effects were significantly increased with the ABF map (0.86 vs. 0.21 dB SNR for summation and 0.85 vs. -0.09 dB SNR for squelch). No improvement in speech perception in quiet or spatial release from masking were observed with the ABF map. A similar level of self-perceived sound quality was reported for each map. Upon the end of the study, all users opted to keep the ABF map. This preference was independent of the angular insertion depth of the electrode array. Conclusions Experienced SSD CI users preferred using the ABF map, which gave them significant improvements in binaural hearing and some aspects of speech perception.

Benefits of Cochlear Implantation for Older Adults With Asymmetric Hearing Loss.

FDA-approved indications for cochlear implantation include patients with severe-to-profound unilateral hearing loss (UHL) or asymmetric hearing loss (AHL); however, these indications are not covered for Medicare beneficiaries. We assessed the outcomes of cochlear implant (CI) use for older adults with UHL or AHL. Eighteen older adults (≥65 years of age at surgery) with UHL/AHL participated in a prospective, longitudinal investigation evaluating outcomes of CI use. Speech recognition for the affected ear was evaluated with consonant-nucleus-consonant (CNC) words. Spatial hearing was assessed with measures of sound source localization and sentence recognition in noise. The target sentence was presented from the front and the masker was either co-located with the target (SoNo), presented toward the affected ear (SoNci) or contralateral ear (SoNcontra). Perceived benefit was assessed with the Speech, Spatial, and Qualities of Hearing scale (SSQ) and the Tinnitus Handicap Inventory (THI). Participants experienced significant improvements with CI use for CNC words (mean [SD]; preop: 8% [10%], 1 yr: 51% [22%], 5 yr: 50% [19%]), masked sentence recognition (SoNcontra preop: 5% [6%], 1 yr: 22% [15%], 5 yr: 41% [14%]), and localization (preop: 76° [18°], 1 yr: 40° [11°], 5 yr: 41° [14°]),and reported significant improvements in hearing abilities (SSQ Spatial Hearing preop: 3 [1], 1 yr: 6 [2], 5 yr: 6 [2]) and tinnitus severity (THI preop: 16 [18], 1 yr: 4 [14], 5 yr: 6 [12]). Older adults with UHL/AHL experience significant improvements in speech recognition, spatial hearing, and subjective perceptions (e.g., hearing abilities and tinnitus severity) with a CI as compared to pre-operative abilities. IV Laryngoscope, 2024.

Pediatric Myringoplasty using the Periosteum: An Institutional Overview.

Introduction Myringoplasty is a common otologic procedure to restore the integrity of the tympanic membrane in cases of traumatic or pathologic perforations. Many grafting materials have been used with different techniques. Objective In the present work, we evaluate the surgical and audiological outcomes of periosteal graft overlying the mastoid cortex through a retroauricular incision in a pediatric cohort. Methods A retrospective study was carried out involving all children aged ≤ 16 years who underwent periosteal graft myringoplasty for the treatment of chronic suppurative otitis media with dry central perforation in our hospital from April 2019 to April 2021. All patients were followed up for one year to assess the anatomical success and functional outcomes by comparing the preoperative and postoperative (after six months) results of pure tone audiometry (PTA). Results The sample was composed of 36 patients; 20 of them were female (55.6%) and 16 were male (44.4%) subjects, with ages ranging from 7 to 16 (mean: 12.7) years. Four patients underwent surgery in both ears (with an interval of 6 to 9 months). Out of 40 surgeries performed, 38 ears have shown anatomical success (95%). A highly significant improvement in hearing was obtained (the mean difference between the pre- and postoperative results of the PTA was of 14.6 ± 3.45 dB ( p < 0.001). Conclusion We advocate the use of periosteal graft in the pediatric population as a good alternative for other types of grafts, with comparable and even better functional and anatomical outcomes.

Assessing the Effectiveness of Different Hyperbaric Oxygen Treatment Methods in Patients with Sudden Sensorineural Hearing Loss.

Hyperbaric oxygen therapy (HBOT) is one of the treatment methods in patients with sudden sensorineural hearing loss (SSNHL). It is recommended as an elective treatment in patients undergoing steroid therapy. According to current scientific reports, HBOT should be implemented within two weeks after the first symptoms. However, as far as the profile of HBOT is concerned, there are no straightforward recommendations. The data obtained from the medical records of 218 patients undergoing HBOT for SSNHL at the Military Institute of Medicine-National Research Institute were analyzed statistically for the impact of the duration and the delay in implementing HBOT on the end results of pure-tone audiometry (PTA). A statistically significant hearing improvement in patients undergoing more than 15 cycles of HBOT was detected at all frequencies except for 1500 Hz; in the group reporting for treatment with a delay of more than 10 days, hearing improvement was statistically unsignificant at frequencies of 1500, 3000, and 4000 Hz. The statistical analysis showed that the urgent onset of HBOT could be a significant factor in the therapy of SSNHL.

A case of vertebrobasilar dolichoectasia manifesting as sudden sensorineural hearing loss with vertigo

Vertebrobasilar dolichoectasia (VBD) is a rare vascular condition characterized by the elongation, widening, and tortuosity of the vertebrobasilar artery. It can lead to various symptoms due to compression of cranial nerves and brainstem structures. We report a rare case of VBD presenting as sudden sensorineural hearing loss (SSNHL) with vertigo and spontaneous downbeat nystagmus in a 65-year-old woman with a history of hypertension. Magnetic resonance imaging revealed a tortuous and dilated right vertebrobasilar artery compressing the brainstem and left 8th cranial nerve root entry zone, without signs of acute cerebellar stroke. The compression of the anterior inferior cerebellar artery and cervicomedullary junction was also noted, suggesting a vascular cause for her symptoms. Following high-dose steroid treatment, the patient showed significant hearing improvement. This case underscores the importance of considering VBD in patients with unexplained SSNHL and vertigo, highlighting the role of detailed vascular imaging in the diagnosis and management of such cases.

Assessment of Hearing in Patients with Head Injury: A Prospective Study.

Hearing impairment is a well-known outcome of head trauma. The most prevalent site of injury is the peripheral structures. Hearing loss dissipates in most cases but can continue in some cases and may improve in some. To evaluate the incidence of hearing loss and ascertain its type and degree in patients with head injury. To estimate the progression or regression of hearing loss in head injury patients during follow-up. 60 patients with head injuries with any ear symptoms were included in the study. The severity of head injury is graded according to the Glasgow Coma Scale (GCS). Patients were subjected to High Resolution Computed Tomogram (HRCT) temporal bone, and Pure Tone Audiometry (PTA) was performed within 24h of presenting. PTA repeated after 3months. The degree of hearing loss and its progression or regression were assessed. Of the 60 patients, 56 (93.3%) had hearing loss on PTA. 50 Cases (83.3%) showed conductive hearing loss (CHL). 6 (10%) had mixed hearing loss (MHL). 4 cases with MHL had a transverse temporal bone fracture on radiological evaluation. 41 (68.3%) had mild CHL, 4 (6.7%) had moderate MHL, and 2 (3.3%) had moderately severe MHL. PTA values reduced significantly from 1st to 2nd visit in both ears. In our study, there was significant improvement in hearing during follow-up, after 3months of head injury indicating improvement in hearing. The improvement in hearing was noticed in all cases except for one case with transverse temporal bone fracture and moderately severe hearing loss. Routine otological examination should be considered in all patients with head injuries. Meticulous and timely management of these cases can significantly reduce morbidity in the patient.

Idiopathic sudden sensorineural hearing loss: A trial of modified Stennert’s infusion therapy

Introduction and Aim: Sudden sensorineural hearing loss presents as rapid onset hearing deterioration of more than 30dB within 72 hours at the minimum of three adjacent frequencies. The aim of this research was to determine the effect of Modified Stennert’s Protocol in addressing idiopathic sudden sensorineural hearing loss. Materials and Methods: Retrospective pilot study was done. 14 patients were started on Modified Stennert’s protocol within 72 hours of onset of symptoms and were observed. Our modification included using hydrocortisone instead of prednisolone. Results: All patients presenting with sudden sensorineural hearing loss showed significant improvement in hearing by the end of two weeks and at the end of 3 months. Conclusion: With such obscured pathophysiology, treatment of modified versions of usage of hydrocortisone instead of prednisolone along with dextran and pentoxyfylline has shown prime augmentation towards the patients resulting in near normal hearing.

The therapeutic effect of hyperbaric oxygen therapy in patients with severe to profound idiopathic sudden sensorineural hearing loss

The optimal treatment for sudden sensorineural hearing loss (SSNHL) is unclear. Hyperbaric oxygen therapy (HBOT) has been suggested as a viable option for treatment of SSNHL as it improves vascular dysfunction. In this study, we evaluated the therapeutic effects of HBOT by retrospectively reviewing the records of 2206 patients with SSNHL. 54 who had received HBOT were selected for the HBOT groups, while 59 age-matched controls who had not were selected for the control groups. The HBOT and control groups were divided into subgroups according to intratympanic steroid (ITS) use. Groups A–D had received oral steroids + HBOT, oral steroids only, oral steroids + ITS + HBOT, and oral steroids + ITS, respectively. Of the 113 SSNHL patients, 21 had diabetes mellitus (DM) (2, 0, 9, and 10 patients in Groups A–D, respectively). There was no notable difference in hearing improvement between patients receiving HBOT and those in the control group. However, among diabetic patients, those who underwent HBOT demonstrated a significant improvement in hearing when compared to the control group. The combination of HBOT and steroids could potentially be beneficial for treating severe to profound SSNHL patients with DM.

Hearing Improvement in Tympanoplasty, with and Without Canalplasty.

Primary objective of this study was to compare the role of canalplasty in tympanoplasty, with that of only tympanoplasty, in patients of chronic suppurative otitis media with narrow external auditory canal and moderate to large central perforation, in terms of hearing improvement, graft uptake, intra operative ease. This study included 60 patients with chronic mucosal otitis media with narrow external auditory canal, with moderate to large central perforation, presenting to our institution from September 2019 to August 2021. Group A consisted of 30 patients, who underwent tympanoplasty with canalplasty and Group B consisted of 30 patients, who underwent tympanoplasty without canalplasty. Both the groups were followed up for 3months, compared and analysed for hearing improvement and graft uptake. The results of our study indicated that Group A achieved 93.3% graft uptake rates compared to group B which achieved 80%. In Group A gain in air bone gap was 12.43dB, whereas in Group B it was about 9.50dB. Group A had significant hearing improvement and better graft uptake compared to Group B. It is advantageous to perform canalplasty prior to tympanoplasty in patients with narrow external auditory canal in whom the entire rim of annulus is not visible in one microscopic view. It yields better hearing improvement and graft uptake and prevents lateralization of the graft.

Outcomes of Cochlear Implant Recipient With ANSD: Intra and Post Operative Findings, Progress in Audition and Speech Skills.

Auditory neuropathy spectrum disorder (ANSD) is a distinct type of SNHL that is characterized by the presence of otoacoustic emissions and/or cochlear microphonics. Cochlear implantation was initially not recommended for ANSD children, later studies showed variable outcomes among ANSD. CI is currently the intervention option of choice for many children with ANSD who are unable to obtain benefit from conventional amplification. To review experiences with some of the preoperative and postoperative findings in a child who was diagnosed with auditory neuropathy and provided with cochlear implant. To describe changes in auditory function, which enabled to have significant improvement in hearing and communication skills through auditory verbal therapy (AVT) and regular follow ups. Pre and postoperative, findings in cochlear implant recipient who was diagnosed with ANSD. Child received complete medical examinations, including related consultations in audiology, otorhinolaryngology, paediatrics, neurology, psychology, speech language pathology, and radiology. A 3-year-old-female have brought to the hospital with a C/o not responding to sounds, name call and unable to speak. Medical and Audiological evaluations were initiated. The hearing assessments of thechild included appropriate behavioural audiometric techniques, objective measures of middle ear function, acoustic reflex studies, transient evoked (TEOAE), distortion product (DPOAE) otoacoustic emissions and auditory brainstem responses (ABR). Implanted with (HiRes Ultra CI HiFocus SlimJ Electrode), and objective measures were recorded intraoperatively electrode impedances and neural response telemetry (NRT) to assess the outcomes technically. These intraoperative objective measures were used to help program the speech processor for the child. Postoperatively, child has had regular follow-up with otorhinolaryngologist to assure complete healing of the surgical incision, to assess their general medical conditions, and audiologist for switch-on (speech processor) followed by mapping. The hearing and communication skills have been assessed, also continued Auditory Verbal Therapy (AVT) on a regular basis. Postoperatively, objective measures were recorded in regular intervals and monitored with therapy outcomes. The child has shown significant improvement in sound detection, speech perception abilities, communication skills and shown evidence of progression of good NRT results, which were recorded and had no postoperative complications. Experience with cochlear implantation for child diagnosed with ANSD that effectively received and benefited from CI. A detailed and careful evaluations, audiological follow-ups and tailored rehabilitation plans, can be considered as a beneficial management approach for CI, especially who diagnosed with ANSD. The regular use of cochlear implant in this diagnosis can lead to a clear increase in speech comprehension, development and overall progress in quality of life. Success or lack of success with a CI appears to be somewhat dependent on the specific site of lesion (pre- or post-synaptic). Currently there are no clinical measures available to diagnose the specific site of lesion. Indeed, CI appears to be an effective rehabilitation modality for ANSD patients. This may be explained by the fact that the implanted electrode delivers synchronized electrical impulses directly to the auditory nerve, bypassing the presynaptic IHCs and its synapse involved in the unsynchronized firing of the auditory nerve described in ANSD. However, genetic studies that have proven to be essential in the knowledge of underlying mechanisms of ANSD represent a promising therapeutic approach in the management of ANSD.

Suspicion and Treatment of Perilymphatic Fistula: A Prospective Clinical Study.

Background: Since the discovery of the perilymphatic fistula (PLF), the diagnosis and treatment remain controversial. If successfully recognized, the PLF is surgically repairable with an obliteration of the fistula site. Successful treatment has a major impact on patient's quality of life with an improvement in their audiological and vestibular symptoms. Objective: To prospectively investigate patients' clinical and audiological evolution with PLF suspicion after middle ear exploration and obliteration of the round and oval window. Study Design: Prospective comparative study. Setting: Tertiary care center. Methods: Patients were divided into two groups: Group I consisted of patients where no PLF had been identified intraoperatively at the oval and/or at the round window, and Group II consisted of patients where a fistula had been visualized. Patient assessment was a combination of past medical history, the presence of any risk factors, cochlear and vestibular symptoms, a physical examination, temporal bone imaging, audiograms, and a videonystagmogram (VNG). Results: A total of 98 patients were divided into two groups: 62 in Group I and 36 in Group II. A statistically significant difference regarding gender was observed in Group II (83.3% of males vs. 16.7% of females, p = 0.008). A total of 14 cases (4 and 10 in Groups I and II, respectively) were operated for a recurrent PLF. Fat graft material was used in the majority of their previous surgery; however, no difference was found when comparing fat to other materials. In addition, no statistically significant difference was noted between Groups I and II concerning predisposing factors, imaging, VNG, symptom evolution, or a physical exam before the surgery and at 12 months post-operative. However, both groups showed statistically significant hearing and vestibular improvement. On the other hand, the air conduction (AC) and bone conduction (BC) at each frequency were not statistically different between the two groups before surgery but showed statistically significant improvement at 12 months post-operatively, especially for the BC at the frequencies 250 (p = 0.02), 500 (p = 0.0008), and 1000 Hz (p = 0.04). Conclusions: Whenever you suspect a perilymphatic fistula, do not hesitate to explore middle ear and do window obliterations using a tragal perichondrium material. Our data showed that cochlear and vestibular symptoms improved whether a fistula had been identified or not.

Outcomes of Endoscopic Stapedectomy: Systematic Review.

Introduction Stapes surgery was traditionally performed with the use of microscopy either through postauricular, endaural or transcanal approaches. Endoscopic stapedectomy ushered a revolution as a new technique with less complications. Objective To review the outcomes of endoscopic stapes surgery with an emphasis on intraoperative and postoperative clinical and audiological results. Data Synthesis A literature review on the PubMed, Web of Science, Scopus, the Cochrane Library, and Embase databases was conducted. Endoscopic stapes surgery or stapedotomy were the main keywords used, and we searched for studies and research published from January 2015 to October 2021. Articles on endoscopic stapes surgery were included, and qualitative and descriptive analyses of the studies and outcomes data regarding audiometric changes and postoperative complications were conducted. Articles including patients with cholesteatoma were excluded. A total of 122 studies were retrieved for qualitative and descriptive analyses and to measure the outcomes of endoscopic stapedotomy; only 12 studies met the inclusion criteria, and the rest was excluded. The meta-analysis revealed a statistically significant difference in hearing improvement. The gain in air-bone gap ranged from 9 dB to 16 dB. A low rate of operative and postoperative complications was reported. Conclusions Endoscopic stapes surgery appears to be a reasonable alternative to microscopic stapes surgery, with shorter operative times, low complication rate, and significant hearing improvement. The endoscopic technique enabled a better visualization and less scutum drilling, which was confirmed by all included studies.

Treatment of Acute Otitis Media with Inner Ear Involvement in Adults.

Inner ear involvement (IED) is a rare local complication of the very common acute otitis media (AOM). The most beneficial treatment for IED remains a matter of debate. The aim of this study is to analyze different treatment modalities based on hearing outcomes to contribute to the discussion of therapy for IED in AOM. This retrospective study includes 112 adult patients diagnosed with AOM with IED between 2000 and 2020. Patients either received conservative (systemic antibiotic and systemic steroid therapy), interventional (conservative plus myringotomy and tympanic tube) or operative (interventional plus antrotomy) treatment. Pre- and post-treatment pure tone audiometry was performed. The hearing outcome was compared, and hearing recovery was analyzed based on modified Siegel's criteria. The pre-treatment pure tone average (PTA) was significantly (p < 0.05) higher in the operative group than in the other groups. All treatment modalities led to a significant hearing improvement (p < 0.001). The pre- and post-treatment hearing loss was predominantly observed in high frequencies 2-4 kHz. The operative group showed the highest rate of complete hearing recovery. While all treatment modalities led to a significant improvement in hearing, the operative group showed the most beneficial hearing results in patients with high pre-treatment hearing loss. It remains to be shown if the findings in patients with high pre-treatment hearing loss can be generalized to patients with mild or moderate pre-treatment hearing loss.

Comparative study of anatomical and functional results of butterfly myringoplasty versus temporalis fascia underlay myringoplasty

Background: Myringoplasty is traditionally been done by using temporalis fascia graft material. But in recent years understanding of physiology and pathology of middle ear cleft is drastically improved with technical advancement in surgical methods. Various grafts have been tried for myringoplasty time to time with varying results. Methods: A case control study was conducted; where 52 patients underwent myringoplasty with butterfly graft and second group of 52 patients underwent myringoplasty with temporalis fascia graft under general anesthesia in major OT. All the patients were followed up for 3 months. The results of the procedure were assessed, with respect to closure of tympanic membrane perforations and improvement in the air bone gap post operatively. Results: Butterfly group had statistically significant number of healed patients and hearing improvement compared to temporalis fascia group at the end of one month and with no statistical significance at the end of three months. The age group less than 18 years showed better uptake with butterfly graft. The difference of mean pre-operative, 1 month and 3 months post-operative air bone gaps in butterfly graft were 35.57±2.87 dB, 27.86±2.53 dB, 24.65±2.66dB and in temporalis fascia were 35.97±2.6dB, 29.36±1.54dB, 25.12±1.73 dB respectively. Conclusions: Butterfly group had statistically significant hearing improvement in patients compared to temporalis fascia group at one month and with no statistical significance at three months post procedure. The age group less than 18 years showed better uptake with butterfly graft.

Clinical, paraclinical features and the surgery outcomes of chronic otitis media with cholesteatoma at 108 Military Central Hospital

Objective: To assess the clinical features and the surgery outcomes of chronic otitis media with cholesteatoma. Subjects and method: A retrospective, descriptive study was conducted on fifty-six patients underwent a surgery to remove cholesteatoma at the Ear, Nose and Throat (ENT) Department at 108 Military Central Hospital from January 2019 to September 2023. Result: Most of patients presented at the late stage with years of clinical symptoms: Otorrhea (92.9%), hearing loss (100%). One-third of the subjects had a severe to profound hearing loss. 89.3% had scutum and ossicles erosion on CT scan images. Cholesteatoma was found at epitympanum location most of the time (83.9%). Incus was the most likely to be eroded ossicle (83.9%). No significant hearing improvement was found postoperatively. No complications and no recurrences in a long-term follow up. Conclusion: Although most of patients presented at the late stage, our micro-surgery for cholesteatoma removal still had favorable outcomes.

A Novel EYA1 Mutation Causing Alternative RNA Splicing in a Chinese Family With Branchio-Oto Syndrome: Implications for Molecular Diagnosis and Clinical Application.

Branchio-oto syndrome (BOS) primarily manifests as hearing loss, preauricular pits, and branchial defects. EYA1 is the most common pathogenic gene, and splicing mutations account for a substantial proportion of cases. However, few studies have addressed the structural changes in the protein caused by splicing mutations and potential pathogenic factors, and several studies have shown that middle-ear surgery has limited effectiveness in improving hearing in these patients. BOS has also been relatively infrequently reported in the Chinese population. This study explored the genetic etiology in the family of a proband with BOS and provided clinical treatment to improve the patient's hearing. We collected detailed clinical features and peripheral blood samples from the patients and unaffected individuals within the family. Pathogenic mutations were identified by whole-exome sequencing and cosegregation analysis and classified according to the American College of Medical Genetics and Genomics guidelines. Alternative splicing was verified through a minigene assay. The predicted three-dimensional protein structure and biochemical experiments were used to investigate the pathogenicity of the mutation. The proband underwent middle-ear surgery and was followed up at 1 month and 6 months postoperatively to monitor auditory improvement. A novel heterozygous EYA1 splicing variant (c.1050+4 A>C) was identified and classified as pathogenic (PVS1(RNA), PM2, PP1). Skipping of exon 11 of the EYA1 pre-mRNA was confirmed using a minigene assay. This mutation may impair EYA1-SIX1 interactions, as shown by an immunoprecipitation assay. The EYA1-Mut protein exhibited cellular mislocalization and decreased protein expression in cytological experiments. Middle-ear surgery significantly improved hearing loss caused by bone-conduction abnormalities in the proband. We reported a novel splicing variant of EYA1 in a Chinese family with BOS and revealed the potential molecular pathogenic mechanism. The significant hearing improvement observed in the proband after middle-ear surgery provides a reference for auditory rehabilitation in similar patients.

A Case of Bilateral Sequential Sudden Sensorineural Hearing Loss in Protein S Deficiency and Successful Recovery of Hearing After Cochlear Implantation

Bilateral sequential sudden sensorineural hearing loss (SSHL) is a rare and challenging clinical condition, but its association with protein S deficiency has received limited attention. This paper reports a case of bilateral sequential SSHL in a patient with protein S deficiency who underwent cochlear implantation and achieved significant improvement in hearing. The patient received high-dose systemic corticosteroids and anticoagulation therapy before the implantation, which had no significant effect. Cochlear implantation was then performed in the left ear, and the patient showed significant improvement in speech understanding and overall hearing ability. A year later, the patient underwent surgery for the opposite ear with favorable outcome. This case highlights the potential benefits of cochlear implantation in patients with bilateral sequential SSHL and protein S deficiency and emphasizes the importance of considering cochlear implantation as a treatment option in such patients.

Our Experience of Comparison of Hearing Outcomes in Patients Undergoing Type-1 Tympanoplasty with Different Graft Materials.

The present study was undertaken to compare the results of various autogenous tissues: temporalis fascia, sliced tragal cartilage and fascia lata as graft materials for type I tympanoplasty in terms of hearing improvement in safe type of chronic suppurative otitis media. A total of 75 cases with central perforation were considered in the study. Of the 75 cases, temporalis fascia graft was used in 25 cases (Group-A), fascia lata graft in 25 cases (Group-B), and sliced tragal cartilage graft in 25 cases (Group-C). The results were evaluated in the form of hearing improvement with respect to the graft materials. A significant association was observed between the groups, that is, temporalis fascia (Group-A), fascia lata (Group-B), and sliced tragal cartilage (Group-C) in terms of improvement in AB gap (P = 0.047). Improvement in AB gap was statistically significant between groups B and A, but not between the other groups. In the present study, fascia lata showed better graft uptake as compared to temporalis fascia and sliced tragal cartilage. The hearing assessment at post-operative 3rd month showed statistically significant hearing improvement with fascia lata when compared to temporalis fascia.