Transmembrane proteins with unknown function (TMEMs) as ion channels: electrophysiological properties, structure, and pathophysiological roles.

A transmembrane (TMEM) protein with an unknown function is a type of membrane-spanning protein expressed in the plasma membrane or the membranes of intracellular organelles. Recently, several TMEM proteins have been identified as functional ion channels. The structures and functions of these proteins have been extensively studied over the last two decades, starting with TMEM16A (ANO1).

Efficacy of vestibular rehabilitation program in children with balance disorders and sensorineural hearing loss.

Objective: Asses the efficacy of a Vestibular-balance rehabilitation program to minimize or reverse balance disability in children with sensorineural hearing loss.

Method: Forty-five hearing-impaired children with balance deficits (i.e.

Expanding Understanding of Electrocochleography in Cochlear Implantation: Auditory Neuropathy Spectrum Disorder With Normal Pure Tone Average.

Objective: Describe the preoperative decision-making, intraoperative electrocochleographic (ECoG) findings, and outcome of cochlear implantation (CI) in a patient with auditory neuropathy spectrum disorder (ANSD) and normal pure-tone thresholds.

Patients: A 19-year-old with a history of hypoxic ischemic encephalopathy and seizures was referred for hearing rehabilitation in the setting of typical hearing by pure tone audiometry but poor speech understanding. A diagnosis of ANSD was made based on acoustic brainstem response (ABR), distortion product otoacoustic emission, and acoustic reflex testing.

Clinical and genetic architecture of a large cohort with auditory neuropathy.

Auditory neuropathy (AN) is a unique type of language developmental disorder, with no precise rate of genetic contribution that has been deciphered in a large cohort. In a retrospective cohort of 311 patients with AN, pathogenic and likely pathogenic variants of 23 genes were identified in 98 patients (31.5% in 311 patients), and 14 genes were mutated in two or more patients.

AIF translocation into nucleus caused by Aifm1 R450Q mutation: generation and characterization of a mouse model for AUNX1.

Mutations in AIFM1, encoding for apoptosis-inducing factor (AIF), cause AUNX1, an X-linked neurologic disorder with late-onset auditory neuropathy (AN) and peripheral neuropathy. Despite significant research on AIF, there are limited animal models with the disrupted AIFM1 representing the corresponding phenotype of human AUNX1, characterized by late-onset hearing loss and impaired auditory pathways. Here, we generated an Aifm1 p.

Sudden Onset Auditory Neuropathy Spectrum Disorder: A Rare Case Report of Brown Vialetto Van Laere Syndrome.

Brown Vialetto Van Laere syndrome is a rare disorder characterized by progressive pontobulbar palsy with bilateral sensorineural hearing loss and lower cranial nerve palsies. Fifty-eight cases have been reported in the last hundred years. As the most common presenting complaint of this disorder is hearing loss, audiological evaluation plays a vital role in pointing towards and narrowing its diagnosis.

Cochlear Implantation in Charcot-Marie-Tooth Patients: Speech Perception and Quality of Life.

Objectives: There is a limited understanding of the impact of cochlear implantation (CI) in patients with Charcot-Marie-Tooth disease (CMT), given the scarcity of reported cases. We aim to evaluate the audiological outcomes and quality of life (QoL) after CI in CMT.

Methods: Multi-institutional, university-affiliated, tertiary-referral centers, retrospective chart review.

The human OPA1 mutation induces adult onset and progressive auditory neuropathy in mice.

Dominant optic atrophy (DOA) is one of the most prevalent forms of hereditary optic neuropathies and is mainly caused by heterozygous variants in OPA1, encoding a mitochondrial dynamin-related large GTPase. The clinical spectrum of DOA has been extended to a wide variety of syndromic presentations, called DOAplus, including deafness as the main secondary symptom associated to vision impairment. To date, the pathophysiological mechanisms underlying the deafness in DOA remain unknown.

[Therapeutic potential of NADH: in neurodegenerative diseases characterizde by mitochondrial dysfunction].

Nicotinamide adenine dinucleotide（NADH） in its reduced form of is a key coenzyme in redox reactions, essential for maintaining energy homeostasis.NADH and its oxidized counterpart, NAD+, form a redox couple that regulates various biological processes, including calcium homeostasis, synaptic plasticity, anti-apoptosis, and gene expression. The reduction of NAD+/NADH levels is closely linked to mitochondrial dysfunction, which plays a pivotal role in the cascade of various neurodegenerative disorders, including Parkinson's disease and Alzheimer's disease.

[Distribution characteristics and correlation analysis of variation in patients with auditory neuropathy].

To elucidate the correlation between the gene and auditory neuropathy, aiming to provide valuable insights for genetic counseling of affected individuals and their families. The general information, audiological data（including pure tone audiometry, distorted otoacoustic emission, auditory brainstem response, electrocochlography）, imaging data and genetic test data of 117 auditory neuropathy patients, and the patients with gene mutation were screened out for the correlation analysis of auditory neuropathy. Total of 16 patients were found to have gene mutations, all of which were pathogenic or likely pathogenic.

Preparing for Otoferlin gene therapy trials: A survey of NHS Paediatric Audiology and Cochlear Implant services on diagnosis and management of Auditory Neuropathy Spectrum Disorder.

Objectives: Gene therapy for monogenic hearing loss is on the horizon. The first trials in patients with Auditory Neuropathy Spectrum Disorder (ANSD) due to pathogenic variants in the Otoferlin (OTOF) gene will open this year. In the UK, the new NHS Genomic Medicine Service (GMS) offers genetic testing in each child diagnosed with congenital or early onset sensorineural hearing loss.

The challenge of a mature final diagnosis of hearing loss severity and early cochlear implantation.

Purpose: Despite the recent trend of cochlear implantation (CI) at the age of six or even four months is prevalent in many centers around the world, clinicians should be cautious because perinatal risk factors of auditory neuropathy and/or delayed maturation carry the possibility of reversible hearing loss, yielding better auditory performance at the age of one year. The purpose of this study is to raise awareness that early CI may not be universal for all patients. In addition, we specify the factors to be considered in the pre-operative evaluation of CI in infants younger than one year.

[Increase in the natural hearing threshold after treatment with cochlear implants].

More than 5% of the world's population suffers from disabling hearing loss. If the cause of hearing loss is unclear, it is referred to as idiopathic sudden sensorineural hearing loss (ISSNHL). After failure of standard treatment, the use of hearing aids or a cochlear implant is generally recommended.

Hidden hearing loss in a Charcot-Marie-Tooth type 1A mouse model.

Hidden hearing loss (HHL), a recently described auditory neuropathy characterized by normal audiometric thresholds but reduced sound-evoked cochlear compound action potentials, has been proposed to contribute to hearing difficulty in noisy environments in people with normal hearing thresholds, a widespread complaint. While most studies on HHL pathogenesis have focused on inner hair cell (IHC) synaptopathy, we recently showed that transient auditory nerve (AN) demyelination also causes HHL in mice. To test the impact of myelinopathy on hearing in a clinically relevant model, we studied a mouse model of Charcot-Marie-Tooth type 1A (CMT1A), the most prevalent hereditary peripheral neuropathy in humans.

[Clinical protocol: audiological assessment of infants in Russian Federation. Part II].

This is the second part of the previously published clinical protocol of audiological assessment in infants. The goal of the protocol is unification approaches to audiological diagnosis of the infants. The following sections were included in the second part of the protocol: behavioral testing in infants, testing sequence, duration of the examination and necessity in follow-up, hearing assessment in special cases (premature children, children with congenital infections, after meningitis, with external ear abnormalities, single-sided deafness, with hydrocephalus and shunts, with auditory neuropathy spectrum disorder, with mild hearing loss and otitis media with effusion), medical report.

Predicting the Impact of OTOF Gene Missense Variants on Auditory Neuropathy Spectrum Disorder.

Auditory neuropathy spectrum disorder (ANSD) associated with mutations of the OTOF gene is one of the common types of sensorineural hearing loss of a hereditary nature. Due to its high genetic heterogeneity, ANSD is considered one of the most difficult hearing disorders to diagnose. The dataset from 270 known annotated single amino acid substitutions (SAV) related to ANSD was created.

Comparing Auditory Brain Stem Responses and Transient Otoacoustic Emissions in Premature Infants with Auditory Developmental Delay: Evidence of Temporary Auditory Neuropathy.

Objectives: Premature birth causes some permanent or temporary abnormalities in the hearing system of the newborn. Inadequate development of the central auditory nervous system and balance, as well as the delay in the formation of the nerve myelin, can be the cause of many hearing disorders, including permanent or temporary auditory neuropathy spectrum disorder (ANSD). The present study aims to identify and understand developmental delay disorder in the hearing system of infants and investigate the possibility of temporary auditory neuropathy in infants.

Transient Auditory Neuropathy with Resurgence of Electrophysiological Waveforms Observed between the Neonatal Period and Age 3 Years.

Auditory neuropathy spectrum disorder (ANSD) is a spectrum of conditions marked by diminished auditory function and believed to be caused by the impaired neural transmission of auditory stimulation in the setting of functional outer hair cells. There are reports of "spontaneously resolving" or "transient" ANSD (transient auditory neuropathy [TAN]) in the literature. In this case report of TAN, we demonstrate the resurgence of the auditory brainstem response waveform morphology over a 3-year period to reveal electrophysiological testing consistent with the patient's functional hearing level by age 3 years.

Cortical Auditory Evoked Potential Testing in Children With Auditory Neuropathy Spectrum Disorder.

Purpose: In the present report, we reviewed the role of cortical auditory evoked potentials (CAEPs) as an objective measure during the evaluation and management process in children with auditory neuropathy spectrum disorder (ANSD).

Method: We reviewed the results of CAEP recordings in 66 patients with ANSD aged between 2 months and 12 years and assessed the relationship between their characteristics (prevalence, morphology, latencies, and amplitudes) and various clinical features, including the mode of medical management.

Results: Overall, the CAEPs were present in 85.

Outcomes of cochlear implantation in 75 patients with auditory neuropathy.

Background: Cochlear implantation (CI) outcomes in patients with auditory neuropathy (AN) are variable, which hampers patients' decisions on CI.

Objective: This study aims to assess the outcomes of CI in individuals diagnosed with AN and to examine the various factors that may influence the effectiveness of this intervention.

Methods: A total of 75 patients diagnosed with AN were included in the study.

Duration of Cochlear Microphonics in Click and Toneburst-Evoked Auditory Brainstem Response in Individuals With Auditory Neuropathy Spectrum Disorder and Normal Hearing.

The presence of ringing cochlear microphonics (CM) with an absence of auditory brainstem response (ABR) is an indicator of auditory neuropathy spectrum disorder (ANSD). The duration of CM may vary based on the stimuli used to elicit the response. Generally, ABR is recorded using clicks with very limited use of tonebursts.

Photobiomodulation Can Enhance Stem Cell Viability in Cochlea with Auditory Neuropathy but Does Not Restore Hearing.

Sensorineural hearing loss is very difficult to treat. Currently, one of the techniques used for hearing rehabilitation is a cochlear implant that can transform sound into electrical signals instead of inner ear hair cells. However, the prognosis remains very poor if sufficient auditory nerve cells are not secured.