Human inner ear fluid imbalance detected by optical coherence tomography correlates with hearing loss.

Hearing loss and vertigo occur when there is an imbalance between the two inner ear fluids, endolymph and perilymph. The inner ear is a small delicate structure encased in dense bone deep in the base of the skull, making it challenging to image with high resolution. Because the fluid chambers are so small, there is no reliable way to measure their balance in a living patient to guide therapy.

Impact of HOMER2 frameshift extension variant on auditory function and development.

The HOMER2 gene, crucial for synaptic signaling and calcium homeostasis in the auditory system, is linked to sensorineural hearing loss (SNHL), with its variants contributing to severe SNHL in older adults, often necessitating cochlear implants in their 60 s or 70 s. In this study, we identified a novel frameshift extension variant, c.1033delC (p.

Cochlear Nerve Atrophy in Postlingual ANSD: Diagnostic Clue and Implications for Cochlear Implantation.

Objective: To evaluate cochlear nerve (CN) atrophy in postlingual auditory neuropathy spectrum disorder (post-ANSD) versus simple sensorineural hearing loss (sSNHL) and its implications for cochlear implantation (CI).

Design: A retrospective study of 61 CI recipients (15 post-ANSD, 46 sSNHL) assessed CN size through imaging, analyzed auditory performance, and compared outcomes based on etiology, age, and molecular subtypes.

Results: Post-ANSD exhibited more severe CN atrophy despite better pure tone averages than sSNHL.

A novel BCAP31 variant associated with nonsyndromic auditory neuropathy spectrum disorder: mitochondrial dysfunction, cisplatin sensitivity, and amenability to mitochondrial transplantation.

Background: A novel in-frame insertion variant in the B-Cell Receptor-Associated Protein 31 (BCAP31) gene, which encodes a crucial ER membrane protein involved in the quality control and transport of transmembrane proteins, as well as in ER-mitochondria apoptotic signaling, was determined in a family demonstrating X-linked, recessive, nonsyndromic auditory neuropathy spectrum disorder (ANSD).

Methods: Exome sequencing analysiswas followed by bioinformatics analysis to identify the cause of hearing loss in a family whose pedigree indicated an X-linked recessive mode of inheritance. Immunohistochemistry was performed to locate Bcap31 in the mouse cochlea.

Association of sleep duration, bedtime regularity, and weekend catch-up sleep with age-related hearing loss: A population-based cross-sectional study.

Purpose: Age-related hearing loss (ARHL) impacts quality of life and cognition in older adults, but its link to sleep patterns remains unclear. This study explores associations between ARHL and sleep duration, weekend catch-up sleep (WCS), and bedtime regularity in a Korean population.

Methods: Data from 6797 adults aged ≥ 40 years were analyzed using the Korea National Health and Nutrition Examination Survey (KNHANES, 2021-2022).

The Medial Olivocochlear Efferent Pathway Potentiates Cochlear Amplification in Response to Hearing Loss.

The mammalian cochlea receives efferent feedback from the brain. Many functions for this feedback have been hypothesized, including on short timescales, such as mediating attentional states, and long timescales, such as buffering acoustic trauma. Testing these hypotheses has been impeded by an inability to make direct measurements of efferent effects in awake animals.

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.

Clinical characteristics and hearing loss etiology of cochlear implantees undergoing surgery in their teens, 20s, and 30s.

Purpose: This study aimed to investigate the etiology of hearing loss, including genetic variants, in individuals who underwent cochlear implantation (CI) in their teens to thirties. It also sought to analyze post-CI speech performance and identify prognostic factors affecting CI outcomes in this age group.

Methods: We conducted a retrospective review of 421 cochlear implant patients at Seoul National University Bundang Hospital, focusing on 63 subjects aged 10-39 years who underwent their first CI by a single surgeon between July 2018 and June 2022.

Comparing pronunciation challenges in South Korean preschoolers with unilateral single-sided deafness due to cochlear nerve deficiency to a norm-referenced standard.

This study aimed to compare the development of pronunciation in South Korean preschoolers with unilateral cochlear nerve deficiency (CND) to that of age-matched preschoolers with normal hearing, a topic that has not been explored previously. In a retrospective analysis, 25 preschoolers with unilateral CND who had undergone a speech evaluation battery, including a pronunciation and vocabulary test, were enrolled. Utilizing the Urimal Test of Articulation and Phonation and customized language ability tests, pronunciation and vocabulary were assessed.

Early Postoperative Benefits in Receptive and Expressive Language Development After Cochlear Implantation Under 9 Months of Age in Comparison to Implantation at Later Ages.

Objectives: The recent expansion of eligibility for cochlear implantation (CI) by the U.S. Food and Drug Administration (FDA) to include infants as young as 9 months has reignited debates concerning the clinically appropriate cut-off age for pediatric CI.

TMTC4 is a hair cell-specific human deafness gene.

Transmembrane and tetratricopeptide repeat 4 (Tmtc4) is a deafness gene in mice. Tmtc4-KO mice have rapidly progressive postnatal hearing loss due to overactivation of the unfolded protein response (UPR); however, the cellular basis and human relevance of Tmtc4-associated hearing loss in the cochlea was not heretofore appreciated. We created a hair cell-specific conditional KO mouse that phenocopies the constitutive KO with postnatal onset deafness, demonstrating that Tmtc4 is a hair cell-specific deafness gene.

Health justice and economic segregation in climate risks: Tracing vulnerability and readiness progress.

Climate vulnerability can make urban space unhealthy and accentuate existing health (in)justice and (economic) segregation. Drawing on the vulnerability-readiness nexus and measuring health justice (i.e.

Significance of cytomegalovirus tests after three weeks of life in children with hearing loss.

Background: To determine the diagnostic role of viral markers for cytomegalovirus (CMV) when tested after the diagnostically critical period (postnatal 3 weeks) in children with sensorineural hearing loss (SNHL).

Methods: A retrospective review of 104 subjects who underwent CMV diagnostic tests after the critical period of 3 postnatal three weeks but before 24 months of age. Infants included had not passed universal newborn hearing screening tests in at least one ear and thus underwent obligatory follow up audiology testing as well as either exome sequencing or magnetic resonance imaging in cases of SNHL.

Hearing loss in neonates and infants.

Hearing in neonates and infants is crucial for their development of language and communication skills. Unless hearing loss is appropriately managed early, it can cause a significant socioeconomic burden considering its detrimental impact on the child's development and its common nature. It is also the most common congenital sensory deficit, with an approximate incidence of 1.

Improving genetic diagnosis by disease-specific, ACMG/AMP variant interpretation guidelines for hearing loss.

The 2018 Hearing Loss Expert Panel (HL-EP)-specific guidelines specified from the universal 2015 ACMG/AMP guidelines are proposed to be used in genetic HL, which prompted this study. A genetic HL cohort comprising 135 unrelated probands with available exome sequencing data was established. Overall, 169 variants were prioritized as candidates and interpreted using the 2015 ACMG/AMP and 2018 HL-EP guidelines.

Full etiologic spectrum of pediatric severe to profound hearing loss of consecutive 119 cases.

Determining the etiology of severe-to-profound sensorineural hearing loss (SP-SNHL) in pediatric subjects is particularly important in aiding the decision for auditory rehabilitation. We aimed to update the etiologic spectrum of pediatric SP-SNHL by combining internal auditory canal (IAC)-MRI with comprehensive and state-of-the-art genetic testings. From May 2013 to September 2020, 119 cochlear implantees under the age of 15 years with SP-SNHL were all prospectively recruited.

Evaluation of users' level of satisfaction for an artificial intelligence-based diagnostic program in pediatric rare genetic diseases.

The artificial intelligence (AI)-based genetic diagnostic program has been applied to genome sequencing to facilitate the diagnostic process. The objective of the current study was to evaluate the experience and level of satisfaction of participants using an AI-based diagnostic program for rare pediatric genetic diseases. The patients with neurodevelopmental disorders or hearing impairments, their guardians, and their physicians from 16 tertiary general hospitals were enrolled.

Auditory Phenotype and Histopathologic Findings of a Mutant Nlrp3 Expression Mouse Model.

Objective: The pathogenesis of hearing loss in autoinflammatory disorders due to activation of the inflammasome remains incompletely understood. Previously no animals expressing mutant Nlrp3 (NOD-, LRR- and pyrin domain-containing protein 3) survived to an age when hearing evaluation was possible due to embryonic lethality. We aimed to establish a novel mouse model that manifests quantifiable hearing loss with other syndromic features due to alteration of and investigate the audiologic and histopathologic phenotype in the cochlea to clarify how the genetic alterations of NLRP3 could induce autoinflammatory hearing loss.

Efficacy of cochlear implants in children with borderline hearing who have already achieved significant language development with hearing aids.

There are still debates about timing and effectiveness of cochlear implants (CI) in pediatric subjects with significant residual hearing who do not belong to traditional indication of CI. In this study, we aimed to investigate the outcomes of CI, specifically on improvement of pronunciation, among hearing-impaired children already with a substantial degree of language skills as evaluated by Categories of Auditory Perception (CAP) scores or sentence score. Our cohort comprised pediatric CI recipients from July 2018 through October 2020.

Gray matter volume reduction in the emotional brain networks in adults with anosmia.

Loss of olfaction, or anosmia, frequently accompanies emotional dysfunctions, partly due to the overlapping brain regions between the olfactory and emotional processing centers. Here, we investigated whether anosmia was associated with gray matter volume alterations at a network level, and whether these alterations were related to the olfactory-specific quality of life (QOL) and depressive symptoms. Structural brain magnetic resonance imaging was acquired in 22 individuals with postinfectious or idiopathic anosmia (the anosmia group) and 30 age- and sex-matched controls (the control group).