Search Results (1,742)

Unilateral sudden sensorineural hearing loss (SSHL) presents substantial clinical challenges owing to its abrupt onset and multifactorial, poorly understood etiology. This study investigates the static and dynamic changes in local brain connectivity using regional homogeneity (ReHo) analyses in 102 SSHL patients and 73 healthy controls. A static ReHo analysis reveals pronounced disruptions in local synchronization within motor and cognitive-related brain regions in SSHL patients compared to controls. A dynamic ReHo analysis uncovers increased temporal variability, particularly in frontal regions, indicating potential adaptive neural plasticity to auditory deficits through enhanced neural plasticity. The correlation analyses further associate these neural changes with clinical parameters, highlighting the significant positive correlations between static ReHo in the left precentral gyrus and tinnitus severity (R = 0.39, p < 0.001), as well as the negative correlations between dynamic ReHo in the middle frontal gyrus and the duration of hearing loss (R = −0.35, p < 0.001). These findings underscore the complex interplay between static neural dysregulation and dynamic adaptive mechanisms in the pathophysiology of SSHL. Emphasizing dynamic metrics, our study provides a novel temporal perspective on how the brain reorganizes in response to acute sensory loss. Full article

Background and Objectives: Extracellular vesicles (EVs) derived from mesenchymal stem cells have gained much attention as potential therapeutic agents in many diseases, including hearing disorders such as sensorineural hearing loss (SNHL). EVs inherit similar therapeutic effects, including the stimulation of tissue regeneration from the parental cells. The aim of our study was to isolate EVs produced by MSCs and use them to treat inner ear cells in culture to evaluate their protective potential against the damaging effect of an ototoxic drug. Materials and Methods: We isolated MSC-derived EVs by precipitation and characterized them by number, size, and morphology using nanoparticle tracking analysis and TEM, evaluated the protein concentration by BCA assay and the presence of EV markers CD9, CD63, and CD81 by the Dot Blot immunoblotting method. HEI-OC1 inner ear cell line was treated with EVs either alone or followed by Cisplatin. We assessed the uptake of EVs in HEI-OC1 cells by fluorescence microscopy after PKH26 labeling, ROS production by the DCFDA (dichlorfluorescein diacetate) assay, cellular viability by Alamar Blue assay, and apoptosis with the Annexin V/Propidium Iodide method. Results: The isolated EVs had mean dimensions of 184.4 nms and the concentration of the EV suspension was 180 × 10⁶ particles/mL. TEM analysis showed intact vesicular structures with lipid-bilayer membranes having similar sizes with those measured by NTA. The PKH26-labeled EVs were observed in the HEI-OC1 cells after 24 h incubation, the amount increasing with the concentration. EVs reduced ROS production and increased the number of viable cells both alone and as pretreatment before Cisplatin, dose-dependently. Cells in early apoptosis were inhibited by EVs, while those in late apoptosis were enhanced, both with and without Cisplatin. Conclusions: EVs secreted by MSC protected HEI-OC1 cells against Cisplatin toxicity, reduced ROS production, and stimulated cell viability and the elimination of damaged cells by apoptosis, protecting the HEI-OC1 cells against Cisplatin-induced damage. Full article

Background/Objectives: Congenital rubella syndrome (CRS) is an infection caused by rubella virus transmitted to the fetus during pregnancy, which can cause congenital hearing loss. Cochlear implant can be an effective therapy in patients with severe to profound bilateral hearing loss. The aim of this study was to evaluate the benefits of cochlear implantation in patients with profound hearing loss caused by congenital rubella syndrome. Methods: In total, 38 patients with profound hearing loss caused by intrauterine rubella virus infection were considered for cochlear implantation. Patients ranged in age from 8 to 72 years on the day of surgery, with a mean age of 27 years and median of 25 years (SD = 13.2). Preoperatively, all patients underwent pure-tone audiometry, and free-field speech audiometry was conducted in a quiet environment with the patient wearing a fitted hearing aid. Postoperatively, patients underwent pure-tone audiometry to assess residual hearing, and free-field speech audiometry was conducted when the patients had an active implant. Results: The average preoperative hearing threshold (averaged across the seven frequencies from 0.125 to 8 kHz) was 99.2 dB HL (SD = 6.79), while the average postoperative hearing threshold was 103.4 dB HL (SD = 5.74). Twelve months after the operation, patients achieved a WRS in quiet scores ranging from 10% to 90%, with an average of 59.1% and median of 70% (SD = 25.8). Conclusions: Rubella during pregnancy can lead to severe congenital defects, with sensorineural hearing loss being the most common. Cochlear implants appear to be an effective treatment for profound hearing loss caused by congenital rubella syndrome. Full article

Congenital Rubella Syndrome (CRS) results from maternal infection with the rubella virus during pregnancy, particularly in the first trimester, when the risk of vertical transmission and severe fetal damage is highest. CRS is characterized by a broad spectrum of congenital anomalies, including sensorineural hearing loss, congenital heart defects, cataracts, neurodevelopmental delay, and behavioral disorders. Despite the absence of specific antiviral therapies, active immunization remains the only effective strategy to prevent rubella infection and its congenital consequences. Global immunization efforts, particularly in the Americas, have led to the elimination of rubella and CRS in several countries. However, challenges persist in the post-elimination era, including declining vaccine coverage, vaccine hesitancy, and setbacks caused by the COVID-19 pandemic. Diagnosis relies on maternal serology, fetal imaging, postnatal antibody testing, and molecular techniques. Management requires long-term, multidisciplinary follow-up due to the complex and lifelong sequelae affecting sensory, motor, and cognitive development. This review highlights the clinical, epidemiological, and pathophysiological aspects of CRS, while emphasizing the urgent need to maintain high vaccination coverage and strengthen surveillance systems. Sustained public health commitment is essential to prevent the reemergence of rubella and protect future generations from this preventable syndrome. Full article

This case study presents the long-term management of a 14-year-old male diagnosed with 18q deletion syndrome, also known as de Grouchy Syndrome, highlighting the challenges of treating rare chromosomal disorders in rural Romania. Background and Clinical Significance: 18q deletion syndrome, also known as de Grouchy syndrome, is a chromosomal disorder caused by the deletion of a part of the long arm of chromosome 18. This syndrome is seen in one out of 10,000 live births. The main features of the syndrome are short stature, hearing loss, hypotonia, mental retardation, endocrine disorders, and autoimmunity. Case Presentation: The patient’s condition was initially suspected at birth due to abnormal features and was later confirmed through genetic testing, revealing a 46,XY,del(18) karyotype. Key clinical features include craniofacial dysmorphism, delayed growth, congenital cardiac anomalies, developmental delay, severe neurological impairment, and multiple comorbidities such as endocrine dysfunction, dental anomalies, and orthopedic deformities. Despite early interventions such as cardiac surgery, the patient’s management has been challenged by limited access to specialized care. Conclusions: The case underscores the importance of timely genetic testing, early multidisciplinary care, and the role of family support in managing complex disorders. This report also addresses the gaps in healthcare accessibility in rural settings and emphasizes the need for improved infrastructure and genetic services. By comparing this case with the existing literature, the study explores the variability in clinical presentations of 18q deletion syndrome and advocates for more precise genetic testing to better understand its phenotypic spectrum. The patient’s ongoing challenges with medical and socio-economic factors emphasize the critical need for coordinated care and family support in managing rare genetic conditions. Full article

Background: Children with Down syndrome (DS) are at high risk for a broad spectrum of otorhinolaryngologic (ENT) disorders, including hearing impairment, obstructive sleep apnea (OSA), dysphagia, and language delay. These conditions often coexist and interact with the neurodevelopmental and anatomical features of DS, requiring early identification and coordinated management. Despite the clinical burden, ENT involvement in DS remains under-characterized and inconsistently addressed in care pathways. Methods: A narrative review was conducted to provide an integrative overview of ENT manifestations in pediatric patients with DS. A literature search was performed in PubMed, Scopus, and Web of Science, covering studies published between 1979 and 2025. Articles were included if they addressed ENT disorders in children with DS and met clinical relevance criteria. A total of 45 studies were selected and analysed by study design, focus, and contribution to diagnostic or therapeutic frameworks. Results: The majority of included studies were observational in nature, covering key domains such as conductive hearing loss, chronic otitis media with effusion, sleep-disordered breathing, and feeding/swallowing dysfunction. Several articles emphasized the importance of early audiologic and polysomnographic screening. Gaps in standardization and accessibility of multidisciplinary ENT care were consistently reported. A proposed framework for integrated evaluation is discussed. Conclusions: ENT manifestations in pediatric DS are frequent, multifactorial, and clinically impactful. A multidisciplinary, anticipatory model of care is essential for timely diagnosis and targeted intervention. This review highlights the need to formalize ENT pathways within comprehensive care protocols for children with DS. Full article

Since the inception of cochlear implantation, the field of technological advancements associated with cochlear implantation has continued to evolve, providing patients with sensorineural hearing loss access with greater sound appreciation capabilities. These advances include evolving cochlear implantation criteria, including increased residual hearing and single-sided deafness; changes in electrode design; options for hearing preservation; and advancements in connectivity, to name a few. This article reviews the various aspects of the recent advancements in relation to cochlear implantation. Full article

Background/Objectives: Pathogenic recessive GJB2 variants are the main genetic cause of non-syndromic sensorineural hearing loss. However, following GJB2 testing, a significant proportion of deaf patients are only found to be heterozygous carriers of pathogenic GJB2 alleles. Five large deletions not affecting GJB2 but encompassing a minimal common 62 kb region within the neighbouring CRYL1 gene have been described to cause loss of cis GJB2 expression and, as a result, produce hearing loss when in trans with pathogenic GJB2 variants. We describe the identification and characterization of a novel deletion of this type in deaf patients from northwestern Spain. Methods: We used panel NGS sequencing to detect the deletion, MLPA to validate it, whole-genome sequencing to map its breakpoints, PCR + Sanger sequencing to finely characterize it and triple-primer PCR to screen for it. Results: We identified a novel 200 kb deletion spanning the whole CRYL1 gene in two unrelated deaf patients from Asturias (in northwestern Spain) who were heterozygous for the pathogenic GJB2 c.35delG variant. Although the large deletion was absent from gnomAD v4.1.0 and 2052 local control alleles, screening for it in 20 additional deaf carriers of monoallelic pathogenic GJB2 variants detected it in another patient from Galicia (also in northwestern Spain). The novel deletion, termed del(200 kb)insATTATA, explained hearing loss in 3/43 (7%) deaf patients from our cohort that were otherwise heterozygous for pathogenic GJB2 variants. Conclusions: This work highlights the importance of comprehensively testing all genomic regions known to be clinically relevant for a given genetic condition, including thorough CRYL1 CNV screening for DFNB1A diagnostics. Full article

Ménière’s Disease (MD) is a chronic inner ear disorder defined by recurring episodes of vertigo, fluctuating sensorineural hearing loss, tinnitus, and/or fullness in the ear. Its prevalence varies by region and ethnicity, with scarce epidemiological data in the Brazilian population. Although most MD cases are sporadic, familial MD (FMD) is observed in 5% to 20% of European cases. Through exome sequencing, we have found a rare missense variant in the OTOG gene in a Brazilian individual with MD with probable European ancestry (chr11:17599671C>T), which was previously reported in a Spanish cohort. Two additional rare missense heterozygous OTOG variants were found in the same proband. Splice Site analysis showed that chr11:17599671C>T may lead to substantial changes generating exonic cis regulatory elements, and protein modelling revealed structural changes in the presence of chr11:17599671C>T, chr11:17576581G>C, and chr11:17594108C>T, predicted to highly destabilize the protein structure. The manuscript aims to replicate genes previously reported in a Spanish cohort, and the main finding is that a Brazilian patient with MD also has variants previously reported in familial MD, supporting OTOG as the most frequently mutated gene in MD. Full article

Background/Objectives: Hearing aids are essential for managing hearing loss, yet their accessibility, consistent use, and maintenance remain challenging in public healthcare systems, particularly in low- and middle-income countries (LMICs) such as South Africa. Despite the availability of these services, many patients struggle with device utilization, resulting in suboptimal rehabilitation outcomes. This study explores patient experiences with hearing aids in South Africa’s public healthcare sector. This study aimed to (1) assess patients’ experiences with hearing aid access, including waiting times and service delivery; (2) identify challenges related to hearing aid maintenance and repairs in the public sector; (3) explore factors influencing consistent hearing aid use, including social, psychological, and practical barriers; and (4) propose strategies to enhance hearing aid provision and aftercare services in South Africa. Methods: This descriptive qualitative study was conducted at two public healthcare facilities in Johannesburg. Purposive sampling was used to recruit 15 adult hearing aid users who had received government-funded hearing aids within the past 12 months. Semi-structured interviews were conducted, transcribed verbatim, and analyzed using thematic analysis. Results: Participants reported long waiting periods (up to a year) for hearing aids, with poor communication regarding timelines. Challenges included difficulties adjusting to amplification, discomfort, and battery shortages, leading to inconsistent use or device abandonment. Social stigma and lack of family support further discouraged consistent use. Repair services were slow, with waiting times exceeding three months. Participants recommended decentralized battery distribution, structured follow-up appointments, improved aftercare, awareness campaigns, and mobile audiology services to improve accessibility and usability. Conclusions: While public hearing aid provision is essential for hearing rehabilitation, systemic inefficiencies, maintenance issues, and social barriers limit its impact. Strengthening aftercare services, decentralizing hearing aid distribution, and increasing public awareness could significantly improve hearing aid accessibility and adherence. Furthermore, policy interventions that incorporate tele-audiology, community-based maintenance programs, and integrated healthcare approaches are crucial in ensuring sustainable hearing healthcare outcomes. Full article

Background: Many older Australian adults with cochlear implants (CI) lack funding for replacement sound processors, risking complete device failure and reduced quality of life. The need for replacement CI devices for individuals with obsolete sound processors and no access to funding poses an increasing public health challenge in Australia and worldwide. We aimed to investigate the clinical and cost-effectiveness of upgrading obsolete CI sound processors in older adults. Methods: Alongside an Australian Government-funded upgrade program, a prospective, mixed-methodology design study was undertaken. Participants were aged 65 and over, with obsolete Cochlear™ sound processors and no funding for replacements. This study compared speech perception in noise, as well as self-reported outcome measures, including cognition, listening effort, fatigue, device benefit, mental well-being, participation, empowerment and user experiences, between upgraded and obsolete hearing aid processors. The economic impact of the upgrade was evaluated using two state-transition microsimulation models of adults using CIs. Results: The multi-site study ran from 20 May 2021 to 21 April 2023, with recruitment from June 2021 to May 2022. A total of 340 Cochlear™ sound processors were upgraded in 304 adults. The adults’ mean age was 77.4 years (SD 6.6), and 48.5% were female. Hearing loss onset occurred on average at 30 years (SD 21.0), with 12 years (SD 6.2) of CI use. The outcomes show significant improvements in speech understanding in noise and reduced communication difficulties, self-reported listening effort and fatigue. Semi-structured interviews have revealed that upgrades alleviated the anxiety and fear of sudden processor failure. Health economic analysis found that the cost-effectiveness of upgrades stemmed from preventing device failures, rather than from access to newer technology features. Conclusions: Our study identified significant clinical and self-reported benefits from upgrading Cochlear™ sound processors. Economic value came from avoiding scenarios where a total failure of device renders its user unable to access sound. The evidence gathered can be used to inform policy on CI processor upgrades for older adults. Full article

A single intratympanic application of the small-molecule drug AC102 was previously shown to promote significant recovery of hearing thresholds in a noise-induced hearing loss model in guinea pigs. Here, we report the effects of AC102 to revert synaptopathy of inner hair cells (IHCs) and behavioral signs of tinnitus in Mongolian gerbils following mild noise trauma. This experimental protocol led to minor hearing threshold shifts with no loss of auditory hair cells (HCs) but induced synaptopathy and a sustained and significant tinnitus percept. Treatment by intratympanic application of AC102 was evaluated in two protocols: 1. three weekly injections or 2. a single application. We evaluated hearing threshold changes using the auditory brainstem response (ABR) and the development of a tinnitus percept using the gap prepulse inhibition of acoustic startle (GPIAS) behavioral response. The number of IHC ribbon synapses along the cochlear frequency map were counted by immunostaining for the synaptic ribbon protein carboxy-terminal binding protein 2 (CTBP2). AC102 strongly and significantly reduced behavioral signs of tinnitus, as reflected by altered GPIAS. Noise-induced loss of IHC ribbon synapses was significantly reduced by AC102 compared to vehicle-treated ears. These results demonstrate that a single application of AC102 restores ribbon synapses following mild noise trauma thereby promoting recovery from tinnitus-related behavioral responses in vivo. Full article

Hearing plays a significant role in children’s development. The Auditory Steady State Response (ASSR) using a narrow band CE^® chirp is a technique that allows multiple stimuli to be presented simultaneously, making it possible to obtain electrophysiological thresholds with frequency specificity. The objective of this work is to analyze the findings obtained with the ASSR NB-CE^® chirp technique and compare them with two other methodologies—click ABR and tone-burst ABR—in the audiological assessment of children carried out under inhalation anesthesia. All the exams were performed in a single session. This study involved 71 children aged between 14 and 59 months, male and female, who were referred for ABR and ASSR due to suspected hearing loss and/or delay in speech/language development. Pearson’s correlation coefficient between the uncorrected and corrected thresholds obtained in the three methods demonstrated high correlations for all frequencies evaluated. Full article

Background and Clinical Significance: Osteomas of the mastoid process are extremely rare tumors. In their development, they are usually asymptomatic, they can manifest with cosmetic deformity, pain, hearing loss, and weakness of the facial nerve. Case Presentation: We present a clinical case of a 13-year-old girl with complaints of swelling in the area behind the left pinna, which was painless but created a cosmetic defect and an unpleasant sensation. She reported no pain in the ear and no hearing loss. An otorhinolaryngological examination, an audiometry of the patient, and a computed tomography of the head, temporal bones, and middle and inner ear were performed. The test results showed that hearing was not affected, and the tumor in the area of the mastoid process was approximately 3 cm in diameter, sitting “on top” of the mastoid process. Extirpation of the osteoma was performed with a retroauricular approach. The patient had a short postoperative period without any complications. Conclusions: Mastoid osteomas are rare, benign, slow-growing, and frequently asymptomatic bone tumors. Other bone lesions of the mastoid region should be ruled out in the differential diagnosis. Surgery is the treatment of choice and should be performed in the presence of symptoms or for cosmetic reasons. Full article

Background: Primary ciliary dyskinesia (PCD) is a rare hereditary disorder caused by defective motile cilia, predominantly affecting the respiratory system. Conductive hearing loss (CHL) due to chronic otitis media with effusion (OME) is a typical feature of PCD, particularly in childhood. However, the underlying mechanisms contributing to sensorineural hearing loss (SNHL) in patients with PCD remain unclear. Methods: We present the case of a 52-year-old male with a clinical diagnosis of PCD, confirmed by the presence of situs inversus, chronic respiratory symptoms, and ultrastructural ciliary defects. Results: Despite a history of recurrent acute otitis media (AOM), the patient developed severe bilateral SNHL, a relatively uncommon and poorly understood manifestation of PCD. Genetic testing revealed a pathogenic SH3TC2 variant, a gene classically associated with Charcot–Marie–Tooth disease type 4C (CMT4C), raising the possibility of an alternative or contributory genetic etiology for the patient’s auditory dysfunction. Conclusions: This case highlights the importance of comprehensive audiological and genetic evaluations in PCD patients, particularly those presenting with progressive or atypical HL. The presence of a pathogenic SH3TC2 mutation suggests a potential neuropathic component to the patient’s HL, underscoring the need for further research into the intersection between ciliary dysfunction and genetic neuropathies. Early identification and intervention are critical to optimizing auditory outcomes and quality of life in affected individuals. Full article