Search Results (240)

Background: Meniere’s disease is characterized by a triad of vertigo episodes, fluctuating hearing loss, and tinnitus. The disease is followed by a loss of quality of life in patients, with the severity depending on the individual and the stage of the disease. Since there are no quantitatively validated tests that connect all elements of the disease, the only source of subjective data that can be analyzed is the disease diary and questionnaires, among which the MDPOSI (Meniere’s Disease Patient-Oriented Symptom-Severity Index) stands out as a designated quality-of-life assessment tool. This study aims to evaluate the differences in the questionnaire depending on the clinical characteristics of the disease. Methods: The study recruited 60 patients, with clinical variables including age, gender, disease laterality, caloric testing results, and PTA results, the presence of spontaneous nystagmus, pathological values of calorimetric testing, or rotatory chair testing abnormalities. Results: The appearance of spontaneous nystagmus showed a significant association with worse hearing threshold values at 500 Hz (p = 0.036, OR 4.416) and higher. Worse SRT scores correlated with Q1 (p = 0.011), Q2 (p = 0.028), Q4 (p = 0.045), Q5 (p = 0.013), and the total MDPOSI score (p = 0.008, 0.339). Multivariate analysis showed that a higher total value of the MDPOSI questionnaire was statistically significantly associated with older age (p = 0.042) and spontaneous nystagmus (p = 0.037). Conclusions: There is a correlation between the clinical characteristics of Meniere’s disease and the MDPOSI questionnaire, making it useful for assessing quality of life and disease progression. Full article

Lightweight speech denoising models have made remarkable progress in improving both speech quality and computational efficiency. However, most models rely on long temporal windows as input, limiting their applicability in low-latency, real-time scenarios on edge devices. To address this challenge, we propose a lightweight hybrid module, Temporal Statistics Enhancement, Squeeze-and-Excitation-based Dual Convolutional Attention, and Band-wise Attention (TSE, SDCA, BA) Module. The TSE module enhances single-frame spectral features by concatenating statistical descriptors—mean, standard deviation, maximum, and minimum—thereby capturing richer local information without relying on temporal context. The SDCA and BA module integrates a simplified residual structure and channel attention, while the BA component further strengthens the representation of critical frequency bands through band-wise partitioning and differentiated weighting. The proposed model requires only 0.22 million multiply–accumulate operations (MMACs) and contains a total of 112.3 K parameters, making it well suited for low-latency, real-time speech enhancement applications. Experimental results demonstrate that among lightweight models with fewer than 200K parameters, the proposed approach outperforms most existing methods in both denoising performance and computational efficiency, significantly reducing processing overhead. Furthermore, real-device deployment on an improved hearing aid confirms an inference latency as low as 2 milliseconds, validating its practical potential for real-time edge applications. Full article

Background: Sudden-onset bilateral mixed hearing loss in adults is an extremely rare condition but challenging to diagnose and treat. Conductive hearing loss is associated with otitis media, while the simultaneous presence of a sensorineural component requires supplementary investigation for possible shared pathophysiological mechanisms. Case Presentation: We report the case of a 41-year-old male who was admitted to our hospital with a 48 h history of bilateral, fast progressive hearing loss following a viral illness. The audiologic testing revealed bilateral severe mixed hearing loss. Tympanometry indicated the presence of middle-ear effusion, and myringotomy confirmed the existence of pressurized serous fluid. Treatment consisted of systemic and intratympanic corticosteroids, antibiotics, and supportive therapy. The patient had an unexpected full recovery of auditory function within one month. Discussion: Multiple hypotheses were considered. We hypothesized the coexistence of unrelated conductive and sensorineural hearing loss or a unifying pathological process. Theories discussed include a direct viral insult to the cochlear structures or even pressure-mediated damage to the basal cochlea due to the simultaneous inward displacement of the oval and round windows. The complete resolution of hearing loss is the indicator of a reversible etiology, possibly due to transient inner ear dysfunction secondary to middle-ear pathology or viral infection. Conclusions: This case illustrates the complexity of diagnosing acute mixed hearing loss. This report emphasizes a rare case of sudden-onset bilateral mixed hearing loss with a complete recovery, contributing valuable insight into under-reported and diagnostically complex presentations. Full article

Background: Riboflavin transporter deficiency type 2 is an ultra-rare, yet treatable, inborn error of metabolism. This autosomal recessive disorder is caused by pathogenic mutations in the SLC52A2 gene leading to progressive ataxia, polyneuropathy, and hearing and visual impairment. The early initiation of riboflavin therapy can prevent or mitigate the complications. To date, only 200 cases have been reported, mostly in consanguineous populations. The p.Gly306Arg founder mutation, identified in patients of Lebanese descent, is the most frequently reported worldwide. It was described in a homozygous state in a total of 21 patients. Therefore, studies characterizing the phenotypic spectrum of this mutation remain scarce. Methods: A retrospective review of charts of patients diagnosed with riboflavin transporter deficiency type 2 at a tertiary-care reference center in Lebanon was performed. Clinical, biochemical, and molecular profiles were analyzed and compared to reported cases in the literature. Results: A total of six patients from three unrelated families were diagnosed between 2018 and 2023. All patients exhibited the homozygous founder mutation, p.Gly306Arg, with variable phenotypes, even among family members. The median age of onset was 3 years. Diagnosis was achieved by exome sequencing at a median age of 5 years, as clinical and biochemical profiles were inconsistently suggestive. The response to riboflavin was variable. One patient treated with high-dose riboflavin recovered his motor function, while the others were stabilized. Conclusions: This study expands the current knowledge of the phenotypic spectrum associated with the p.Gly306Arg mutation in the SLC52A2 gene. Increased awareness among physicians of the common manifestations of this rare disorder is crucial for early diagnosis and treatment. In the absence of a consistent clinical or biochemical phenotype, the use of next-generation sequencing as a first-tier diagnostic test may be considered. Full article

Transmembrane protein 43 (TMEM43 or LUMA) encodes a highly conserved protein found in the nuclear and endoplasmic reticulum membranes of many cell types and the intercalated discs and adherens junctions of cardiac myocytes. TMEM43 is involved in facilitating intra/extracellular signal transduction to the nucleus via the linker of the nucleoskeleton and cytoskeleton complex. Genetic mutations may result in reduced TMEM43 expression and altered TMEM43 protein cellular localization, resulting in impaired cell polarization, intracellular force transmission, and cell–cell connections. The p.S358L mutation causes arrhythmogenic right ventricular cardiomyopathy type-5 and is associated with increased absorption of lipids, fatty acids, and cholesterol in the mouse small intestine, which may promote fibro-fatty replacement of cardiac myocytes. Mutations (p.E85K and p.I91V) have been identified in patients with Emery–Dreifuss Muscular Dystrophy-related myopathies. Other mutations also lead to auditory neuropathy spectrum disorder-associated hearing loss and have a negative association with cancer progression and tumor cell survival. This review explores the pathogenesis of TMEM43 mutation-associated diseases in humans, highlighting animal and in vitro studies that describe the molecular details of disease processes and clinical, histologic, and molecular manifestations. Additionally, we discuss TMEM43 expression-related conditions and how each disease may progress to severe and life-threatening states. Full article

This study analyzes the current state and developmental characteristics of phonological awareness in hearing-impaired preschool children with cochlear implants aged 3 to 5 years in China. The phonological awareness development of hearing-impaired preschool children is assessed via a comparison with normal-hearing preschool children of the same age, utilizing a number of key metrics and statistical analyses to determine any differences in the developmental characteristics between the two groups. The results show that the phonological awareness development of Chinese-speaking hearing-impaired preschool children with cochlear implants follows, for the most part, the progression of their normal-hearing preschool counterparts, albeit at a lower level. Identifying phonological awareness profiles in children with cochlear implants helps improve the accuracy of assessment and supports the development of targeted intervention strategies. This study aims to provide a clearer understanding of their phonological processing abilities. 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

Background: Cytomegalovirus (CMV) infection is the most common and serious congenital infection, with universal screening in pregnancy, standardized therapy, and a vaccine still lacking. Study design: In the 1990s, we noted that intravenous ganciclovir did not cure some children with severe sequelae due to congenital cytomegalovirus (CMV) infection. Therefore, we performed an open randomized trial using intravenous foscarnet as an alternative to intravenous ganciclovir in 24 infants (12 in each therapy group), all with severe neurological manifestations due to congenital CMV infection. Nine and five infants, belonging to the foscarnet or ganciclovir group, respectively, had abnormal hearing. One infant in each group also had chorioretinitis. Concomitantly, 12 CMV-infected infants with similar manifestations, who did not receive any therapy, were used as controls. The results of short-term (2 years) and long-term (7–29 years, mean 22.2) follow-up are reported herein. Short-term results: Neurological outcomes were normal in five of the twelve children who were treated with foscarnet, compared to nine of the twelve children given ganciclovir. None of the untreated children were healthy. There was a statistically significant difference (p = 0.023) between the treated and untreated children. Hearing was normal in four of the twelve children treated with foscarnet, seven of the twelve children treated with ganciclovir, and two untreated children. Long-term-results: Two children in both therapy groups died before the age of 17 years, and six untreated children died between 7 and 26 years of age. Neurological outcomes were normal in three of the ten children treated with foscarnet, in two of the ten treated with ganciclovir, and in none of the untreated children. Hearing was normal in two children treated with foscarnet, in six children treated with ganciclovir, and in one untreated child. Conclusions: Intravenous ganciclovir and foscarnet were found to be safe at long-term follow-up and appeared to be capable of mitigating the neurological and auditory consequences of congenital CMV disease at the short-term follow-up. However, there was progressive worsening of the symptomatology in all three groups, with a statistically significant increase in the number of deaths (p = 0.035) among 4 of the 24 children in the therapy groups and 6 of the 12 untreated children. Full article

Although the inner ear is considered an immune-privileged organ because of the blood–labyrinth barrier, accumulating evidence has revealed an unexpected relation between Hashimoto’s disease and inner ear damage manifesting as audiovestibular dysfunction. Hashimoto’s disease can simultaneously affect both the auditory and vestibular systems, either through direct autoantibody attacks or through metabolic dysfunction associated with hypothyroidism. Currently, there is no consensus regarding tests or treatments for audiovestibular dysfunction related to Hashimoto’s disease. In this review, we summarize the currently available evidence regarding the characteristics, pathophysiology, diagnostic approaches, and treatment of audiovestibular dysfunction in patients with Hashimoto’s disease. Furthermore, we propose a specific steroid-plus-thyroxine treatment protocol to manage audiovestibular dysfunction associated with Hashimoto’s disease. This condition may respond to adequate treatment, potentially allowing reversibility if it is recognized and managed in a timely manner. Conversely, delayed diagnosis or failure to recognize the subtle presentation of audiovestibular dysfunction in patients with Hashimoto’s disease may lead to progressive hearing loss, immobility, and reduced quality of life. Based on the updated evidence in our review and our modified treatment protocol, we aim to provide new insights and therapeutic directions for clinicians managing audiovestibular dysfunction in patients with Hashimoto’s disease. Trial registration: PROSPERO CRD420250652982. Full article

Background: Presbycusis, also known as age-related hearing loss (ARHL), is the most frequent sensory disability affecting elderly adults worldwide. ARHL is characterized by bilateral, progressive, sensorineural hearing loss that is more pronounced at a high frequency. Conventional factors associated with ARHL include diabetes, hypertension, and a family history of hearing loss. The severity of hearing impairment varies between individuals. The defined causative molecular pathogenesis for ARHL is unknown, thus the identification of underlying pathogenic mechanisms involved in ARHL is imperative for the development of effective therapeutic approaches. Epigenetics is the study of phenotypic changes caused by the modification of gene expression rather than the alteration of a DNA sequence. While it is hypothesized that ARHL could result from undiscovered epigenetic susceptibility, there is a shortage of information on the role that epigenetic modification plays in ARHL. Here we present an investigation on the involvement of DNA methylation in ARHL. Results: Clinical, audiometric and DNA testing, and high-throughput methylation pattern screening were undertaken for ARHL patients and matched control subjects. Our results demonstrate a strong correlation between patients’ hearing measurements and methylation at CpG sites cg1140494 (ESPN) and cg27224823 (TNFRSF25). We identified 136 differentially methylated CpGs that were shared between a high and low audiometric frequency in the patient’s cohort. CpG cites in hearing loss candidate genes, KCNQ1, TMEM43, GSTM1, TCF25, and GSR, were found to be highly methylated in presbycusis patients as compared to the controls. A methylation polymerase chain reaction (PCR) assay was used to confirm methylation levels at a specific gene locus in ARHL patients and controls. Conclusions: Altered DNA methylation and its impact on gene expression has been implicated in many biological processes. By interrogating the methylation status across the genome of both hearing loss patients and those with normal hearing, our study can help to establish an association between the audiometric patterns and methylation status in ARHL, yielding new avenues for the identification of potential candidate genes for hearing loss. Full article

Background/Objectives: Otosclerosis causes progressive hearing loss through abnormal bone remodeling within the otic capsule and predominantly affects young individuals. Surgical intervention can markedly enhance a patient’s quality of life and socio-economic status. Anesthetic management may involve either general anesthesia or monitored anesthesia care, with the latter enabling real-time assessment of hearing improvement while providing optimal surgical conditions and patient satisfaction. This study examines the efficacy and safety of continuous dexmedetomidine infusion and target-controlled remifentanil infusion for conscious sedation combined with local anesthesia in otosclerosis surgery. Methods: Seventy-four adult patients undergoing otosclerosis surgery were randomly assigned to either the dexmedetomidine group or the remifentanil group. Primary outcomes included patient satisfaction at 24 h post-surgery and surgeon satisfaction with operative conditions. Secondary outcomes comprised hemodynamic effects, the necessity for adjuncts to the proposed sedation protocols, and intra- and postoperative complications. Results: There was no statistically significant difference between the dexmedetomidine and remifentanil groups regarding patient satisfaction (p = 0.943) and surgeon satisfaction (p = 0.069). A strong correlation was observed between surgeons’ assessments and patients’ satisfaction Composite Scores (η² = 0.185, p = 0.003). Dexmedetomidine was more effective in significantly reducing arterial pressure and heart rate without undesirable clinical effects. Conclusions: No significant difference was found between the groups concerning patient and surgeon satisfaction. Dexmedetomidine infusion led to considerable reductions in arterial pressure and heart rate compared to remifentanil. Full article

Cytomegalovirus (CMV) infection in pregnant women is one of the most common causes of congenital infection in children. It is often asymptomatic but can lead to serious complications, including progressive sensorineural hearing loss. Profound hearing loss is an indication for cochlear implantation (CI). Electrode impedance and neural response telemetry (NRT) thresholds can be measured to confirm correct electrode placement and speech processor programming. Background/Objectives: The aim of the study is to evaluate the hearing outcome of children with profound sensorineural hearing loss or deafness due to cCMV infection after CI compared to a control group of children born with other causes of congenital hearing loss and to identify prognostic factors predicting the outcome of patients with hearing loss due to cCMV infection after CI. Methods: A retrospective study was conducted in patients implanted between 2016 and 2023 at the Department of Otolaryngology of the Institute of the Polish Mother’s Memorial Hospital Research Institute in Łódź. Pre- and postoperative hearing levels, electrode impedance and neural response telemetry (NRT) thresholds were compared. The degree of pre-implantation hearing loss was assessed by the level of the recorded V-wave in the ABR test. Post-implantation hearing assessment was based on the last available free-field tonal audiometry measurement. Impedance measurements were included: intraoperative, 1, 6, 12 months after CI, respectively, and NRT thresholds. Results: The final analysis included 84 patients with profound sensorineural hearing loss and complete audiological follow-up data: 13 patients with congenital CMV (cCMV) infection and 71 patients with other causes of deafnes. The analysis included 175 implanted ears: 17 in the CMV group and 158 in the control group. The age at implantation ranged from 1 to 11 years in the CMV and from 1 to 13 years in the control group. Mean preoperative hearing thresholds were 94.54 dB in the CMV group and 97.04 dB in the control group. At the most recent postoperative evaluation, mean thresholds improved to 33.83 dB and 36.42 dB, respectively. No statistically significant differences were observed between the groups. Mean intraoperative NRT values were 79.74 in the CMV group and 86.90 in the non-CMV group. Final NRT values were 129.77 and 130.76, respectively. Mean impedance values measured intraoperatively and at 1, 6 and 12 months postoperatively were 11.09 kOhm, 13.40 kOhm, 8.35 kOhm and 8.25 kOhm in the CMV group; and 12.28 kOhm, 14.06 kOhm, 9.60 kOhm and 8.00 kOhm in the control group, respectively. Conclusions: CI in children with deafness caused by cCMV infection is an effective treatment option. Initial electrical impedance values of the electrodes increase after implant activation and decrease in subsequent months of follow-up, suggesting the absence of active adhesion processes in the cochlea. Full article

P2X receptors are unspecific cation channels activated by ATP. They are expressed in various tissues and found in neuronal and immune cells. In mammals, seven subunits are described, which can assemble into homomeric and heteromeric trimers. P2X2 receptors play important roles in cochlear adaptation to elevated sound levels. Three mutations causing inherited progressive hearing loss have been identified. These mutations localize to the transmembrane domain 1 (V60L), the transmembrane domain 2 (G353R) and a β-sheet linking the ATP binding site to the pore (D273Y). Herein, mutations were studied in human homomeric P2X2 as well as in heteromeric P2X2/3 receptors. We measured their binding of a fluorescently labeled ATP derivative (fATP) and characterized the constructs using the patch-clamp technique. The conclusions from our results are as follows: 1. The mutations V60L and G353R show robust localization on the plasma membrane and binding of fATP, whereas the mutant D273Y has no binding to fATP. 2. The mutation V60L has an increased affinity to fATP compared with the wildtype. 3. The expression of hP2X2 V60L channels reduces cell viability, which may support its role in the pathogenesis of hearing loss. 4. All mutant P2X2 subunits can assemble into P2X2/3 heteromeric channels with distinct phenotypes. Full article

Background: Usher syndrome (USH), the most common cause of combined deaf-blindness, is a genetically and phenotypically heterogeneous disorder characterized by congenital hearing impairment and progressive vision loss due to rod-cone dystrophy. Although the original classification in three subtypes (USH I, USH II, and USH III) is still valid, recent findings have changed and widened perspectives in its classification, genotype–phenotype correlations, and management strategies: Objective: This study aims to provide new insights into the classification of Usher syndrome, explore the genotype-phenotype correlations, and review current and emerging management strategies. Methods: A comprehensive literature review has been conducted, incorporating data from clinical studies, genetic databases, and patient registries. Results: Recent studies have led to the identification of several novel pathogenic variants in the USH genes, leading to refined subclassifications of Usher syndrome. Interactions between different genes being part of the network of this ciliopathy have been investigated and new mechanisms unveiled. Significant correlations were found between certain genotypes and the presentation of both auditory and visual phenotypes. For instance, pathogenic variants in the MYO7A gene (USH1B) were generally associated with more severe hearing impairment and earlier onset of retinal dystrophy, if compared to other USH genes-related forms. Other genes, such as USH1G, traditionally considered as causing a specific subtype, can display phenotypic heterogeneity in some patients. Conclusions: This review provides insights into a better understanding of Usher syndrome that considers recent findings regarding its genetic causes and clinical features. Precise genotype–phenotype correlations can lead to better genetic counselling, more precise characterization of the natural history of the condition, and a personalized and effective management approach. Recent progress has been made in research into gene-specific therapies that appear promising for improving the quality of life for individuals affected by Usher syndrome. Full article

Background: Cisplatin, a widely used chemotherapeutic agent, is associated with significant ototoxicity, leading to progressive and irreversible sensorineural hearing loss in up to 93% of patients. Cisplatin generates reactive oxygen species (ROS) in the cochlea, activating apoptotic and necroptotic pathways that result in hair cell death. Inflammatory processes and nitrative stress also contribute to cochlear damage. Methods: This literature review was conducted to explore the mechanisms underlying cisplatin-induced ototoxicity and evaluate protective strategies, including both current and emerging approaches. A structured search was performed in multiple scientific databases, including PubMed and ScienceDirect, for articles published up to November 2024. Results: Current otoprotective strategies include systemic interventions such as antioxidants, anti-inflammatory agents, and apoptosis inhibitors, as well as localized delivery methods like intratympanic injection and nanoparticle-based systems. However, these approaches have limitations, including potential interference with cisplatin’s antitumor efficacy and systemic side effects. Emerging strategies focus on genetic and biomarker-based risk stratification, novel otoprotective agents targeting alternative pathways, and combination therapies. Repurposed drugs like pravastatin also show promise in reducing cisplatin-induced ototoxicity. Conclusions: Despite these advancements, significant research gaps remain in translating preclinical findings to clinical applications and developing selective otoprotective agents that do not compromise cisplatin’s efficacy. This review examines the mechanisms of cisplatin-induced ototoxicity, current otoprotective strategies, and emerging approaches to mitigate this adverse effect. Full article