Dural arteriovenous fistula presenting as paradoxical contralateral pulsatile tinnitus due to contralateral otosclerosis-induced mixed hearing loss.

Objectives: This study aims to present a rare case of unilateral pulsatile tinnitus (PT) induced by a contralateral dural arteriovenous fistula (DAVF) in a patient with ipsilateral otosclerosis-induced mixed hearing loss, highlighting the diagnostic challenges and management implications.

Methods: A 71-year-old female presented with persistent right-sided PT and hearing loss. Clinical examination, audiological assessments, contrast-enhanced computed tomography, magnetic resonance (MR) angiography, hearing tests, and transcanal recording were performed.

PAM-flexible adenine base editing rescues hearing loss in a humanized MPZL2 mouse model harboring an East Asian founder mutation.

Hearing loss is one of the most prevalent sensory disorders, but no commercial biological treatments are currently available. Here, we identify an East Asia-specific founder mutation, the homozygous c.220 C > T mutation in MPZL2, that contributes to a significant proportion of hereditary deafness cases in our cohort study.

Comprehensive genetic profiling of sensorineural hearing loss using an integrative diagnostic approach.

Despite the advent of next-generation sequencing, diagnosing genetic disorders remains challenging. We perform comprehensive genomic profiling of 394 families (752 individuals) with sensorineural hearing loss (SNHL) using a systematic multi-tiered approach, from single-gene analysis to whole-genome sequencing (WGS), complemented by functional assays and bioinformatic analysis. Our strategy achieves a cumulative diagnostic yield of 55.

A pilot study for virus-induced neural network remodeling in sudden hearing loss and tinnitus: A graph attention network approach.

Purpose: This study aimed to investigate early central abnormalities in sudden sensorineural hearing loss (SSNHL) and tinnitus following viral infection, specifically associated with SARS-CoV-2. We sought to identify shared and distinct functional connectivity (FC) features across SSNHL and tinnitus patients with and without a history of SARS-CoV-2 infection and explore how virus influences brain network remodeling in SSNHL and tinnitus.

Methods: We recruited 31 SSNHL patients with tinnitus following SARS-CoV-2 infection (COV-SSNHL), 32 non-viral SSNHL patients with tinnitus, and 32 age- and gender-matched healthy controls (HC).

Consensus Statements on Tinnitus Treatment: A Delphi Study by the Korean Tinnitus Study Group.

Background: Tinnitus is a bothersome condition associated with various mechanisms of action. Although treatment methods vary according to these mechanisms, standardized guidelines would benefit both patients and clinicians. We conducted a Delphi study, a method that collects expert opinions through multiple rounds of questionnaires, to reach a consensus on tinnitus treatment with professional experts.

Cross brain reshaping in congenital visual or hearing impairment: triple-network dysfunction.

This research examines how congenital visual or hearing impairment reshapes brain function using EEG. The study involved 40 children with congenital visual impairment, 40 with hearing impairment and 42 age and gender-matched normal children as controls. The investigation included assessments of visual and auditory abilities, along with comprehensive EEG evaluations.

Exploring [11C]CPPC as a CSF1R-targeted PET imaging marker for early Parkinson's disease severity.

BACKGROUNDMicroglia-mediated brain immune changes play a role in the pathogenesis of Parkinson's disease (PD), but imaging microglia in living people with PD has relied on positron emission tomography (PET) ligands that lack specificity in labeling immune cells in the nervous system. We aimed to develop imaging of colony stimulating factor 1 receptor (CSF1R) as a microglial-sensitive marker of innate immunity.METHODSIHC using a CSF1R antibody evaluated colocalization with Iba-1 in PD (n = 4) and control (n = 4) human brain samples.

Gene signatures and genotype-phenotype correlations of sensorineural hearing loss in Noonan syndrome and related RASopathies.

Hearing loss frequently occurs in Noonan syndrome and related RASopathies (NS-RAS), with conductive hearing loss being common. However, the genotypic and phenotypic features of sensorineural hearing loss (SNHL) in NS-RAS, as well as genotype-phenotype correlations, remain unknown. Leveraging in-house database for syndromic deafness (N = 1666), we analyzed the genomic landscape and clinical phenotypes of 94 NS-RAS families with genetically confirmed via targeted panel sequencing.

Consensus Statements on Tinnitus Assessment and Treatment Outcome Evaluation: A Delphi Study by the Korean Tinnitus Study Group.

Background: Tinnitus is a multifactorial condition with no universally accepted assessment guidelines. The Korean Tinnitus Study Group previously established consensus statements on the definition, classification, and diagnostic tests for tinnitus. As a continuation of this effort, this study aims to establish expert consensus on tinnitus assessment and treatment outcome evaluation, specifically tailored to the Korean clinical context.

Consensus Statement: Postoperative Management After Balloon Dilation of the Eustachian Tube.

Objectives: Balloon dilation of the Eustachian tube (BDET) is widely recognized as a minimally invasive treatment for obstructive Eustachian tube dysfunction (ETD). We employed a Delphi consensus methodology to develop recommendations for the clinical management of BDET in cases of obstructive ETD.

Methods: A Delphi panel consisting of 26 expert physicians specializing in otology participated in two rounds of anonymous, iterative questionnaires.

Functional pathogenicity of ESRRB variant of uncertain significance contributes to hearing loss (DFNB35).

Advances in next-generation sequencing technologies have led to elucidation of sensorineural hearing loss genetics and associated clinical impacts. However, studies on the functional pathogenicity of variants of uncertain significance (VUS), despite their close association with clinical phenotypes, are lacking. Here we identified compound heterozygous variants in ESRRB transcription factor gene linked to DFNB35, specifically a novel splicing variant (NM_004452.

Discovery of novel disease-causing mutation in and its correction using adenine base editor to improve mitochondrial function.

Mutations in nuclear genes regulating mitochondrial DNA (mtDNA) replication are associated with mtDNA depletion syndromes. Using whole-genome sequencing, we identified a heterozygous mutation (c.272G>A:p.

Tinnitus reduction after active bone-conduction implantation in patients with single-sided deafness: a prospective multicenter study.

Purpose: Single-sided deafness (SSD) presents significant challenges for patients, including compromised sound localization, reduced speech recognition, and often, tinnitus. These issues are typically addressed using interventions such as cochlear implantation (CI) and bone conduction implant (BCI). However, evidence regarding the efficacy of BCI in reducing tinnitus in SSD patients remains limited.

Switching tinnitus on or off: An initial investigation into the role of the pregenual and rostral to dorsal anterior cingulate cortices.

Research indicates that hearing loss significantly contributes to tinnitus, but it alone does not fully explain its occurrence, as many people with hearing loss do not experience tinnitus. To identify a secondary factor for tinnitus generation, we examined a unique dataset of individuals with intermittent chronic tinnitus, who experience fluctuating periods of tinnitus. EEGs of healthy controls were compared to EEGs of participants who reported perceiving tinnitus on certain days, but no tinnitus on other days.

CRISPR-based editing strategies to rectify complex genomic rearrangement linked to haploinsufficiency.

Pathogenic structure variations (SVs) are associated with various types of cancer and rare genetic diseases. Recent studies have used Cas9 nuclease with paired guide RNAs (gRNAs) to generate targeted chromosomal rearrangements, focusing on producing fusion proteins that cause cancer, whereas research on precision genome editing for rectifying SVs is limited. In this study, we identified a novel complex genomic rearrangement (CGR), specifically an inversion with a deletion, implicated in branchio-oto-renal/branchio-oto syndrome.

Efficacy of vestibular rehabilitation and its facilitating and hindering factors from real-world clinical data.

Background And Purpose: Customized vestibular rehabilitation improved dizziness and imbalance in several randomized controlled trials. In the present study, we determined the efficacy of customized vestibular rehabilitation using real-world observational data.

Methods: In this retrospective observational study, we recruited 64 patients (median age = 60, interquartile range = 48-66.

Hearing preservation after stereotactic radiosurgery for sporadic intracanalicular vestibular schwannomas classified as Koos grade 1.

Introduction: The mechanism of hearing loss following stereotactic radiosurgery (SRS) for vestibular schwannomas (VSs) remains unclear. There is conflicting evidence regarding cochlear nerve damage by transient volume expansion of VSs after radiosurgery and radiation-induced cochlear damage. This study aimed to investigate whether there is a specific patient population that can achieve definite hearing preservation after SRS for VSs.

Consensus Statements on the Definition, Classification, and Diagnostic Tests for Tinnitus: A Delphi Study Conducted by the Korean Tinnitus Study Group.

Background: Tinnitus is a bothersome condition associated with various symptoms. However, the mechanisms of tinnitus are still uncertain, and a standardized assessment of the diagnostic criteria for tinnitus is required. We aimed to reach a consensus on diagnosing tinnitus with professional experts by conducting a Delphi study with systematic review of the literature.

Hippocampal atrophy is associated with hearing loss in cognitively normal adults.

Objectives: A growing body of evidence suggests that age-related hearing loss (HL) is associated with morphological changes of the cerebral cortex, but the results have been drawn from a small amount of data in most studies. The aim of this study is to investigate the correlation between HL and gray matter volume (GMV) in a large number of subjects, strictly controlling for an extensive set of possible biases.

Methods: Medical records of 576 subjects who underwent pure tone audiometry, brain magnetic resonance imaging (MRI), and the Korean Mini-Mental State Exam (K-MMSE) were reviewed.

Efficacy of the Bonebridge BCI602 for Adult Patients with Single-sided Deafness: A Prospective Multicenter Study.

Objective: To investigate the safety and efficacy of a novel active transcutaneous bone conduction implant (BCI) device for patients with single-sided deafness (SSD).

Study Design: Prospective cohort study.

Setting: Tertiary referral hospitals.

Two Discrete Types of Tip Fold-Over in Cochlear Implantation Using Slim Modiolar Electrodes: Influence of Cochlear Duct Length on Tip Fold-Over.

Objective: Precise electrode positioning is crucial for achieving optimal audiological outcomes in cochlear implantation. The slim modiolar electrode (SME), a thin, flexible, and precurved electrode, exhibits favorable modiolar proximity. However, tip fold-over can affect optimal electrode placement.

Causes and outcomes of revision surgery in subjects with pulsatile tinnitus.

Introduction: Once the underlying pathology has been identified, pulsatile tinnitus (PT) can be treated successfully with surgical or interventional management. However, some patients experience residual or recurrent symptoms following initially successful surgical treatment, and require revision surgery or additional procedures. Here, we report a case series of patients who had undergone revision surgery or interventional treatment, and suggest possible ways of minimizing the need for revision.

Phenotypic and molecular basis of SIX1 variants linked to non-syndromic deafness and atypical branchio-otic syndrome in South Korea.

Branchio-oto-renal (BOR)/branchio-otic (BO) syndrome is a rare disorder and exhibits clinically heterogenous phenotypes, marked by abnormalities in the ear, branchial arch, and renal system. Sporadic cases of atypical BOR/BO syndrome have been recently reported; however, evidence on genotype-phenotype correlations and molecular mechanisms of those cases is lacking. We herein identified five SIX1 heterozygous variants (c.