Characteristics and Prognosis of Patients With Non-Syndromic Sensorineural Hearing Loss Associated With Myo15a Mutations.

Objective: This study aims to investigate the characteristics of hearing loss associated with MYO15A mutations and to analyze the longitudinal prognosis over a 4-year period using different treatment modalities, including cochlear implants (CIs), hearing aids (HAs), and conservative management.

Study Design: A retrospective case review.

Setting: A tertiary referral center.

LDHA-mediated glycolysis in stria vascularis endothelial cells regulates macrophages function through CX3CL1-CX3CR1 pathway in noise-induced oxidative stress.

According to the World Health Organization, more than 12% of the world's population suffers from noise-induced hearing loss (NIHL). Oxidative stress-mediated damage to the stria vascularis (SV) is one of the pathogenic mechanisms of NIHL. Recent studies indicate that glycolysis plays a critical role in endothelial cells (ECs)-related diseases.

A novel EYA1 splicing mutation in a Chinese branchio-oto syndrome family with functional analysis and reproductive intervention.

Objectives: Branchio-oto syndrome (BOS) is a group of autosomal dominant genetic diseases, multisystem disorders excluding renal anomalies. There are clinical heterogeneity and ethnic diversity in BOS, which reported in more studies in European populations than in Asian populations, with a prevalence rate of approximately 1/40000. As the most common disease-causing gene, the mutation types of EYA1 range from missense to various frameshift, splicing and nonsense variants.

The Distribution and Therapeutic Effectiveness of Clinical Unilateral Ménière's Disease Phenotypes.

Objectives: The first purpose of this study was to ascertain the distribution of unilateral Ménière's disease (MD) clinical subgroups in China and compare with the population reported in Europe and the United States. The second purpose was to investigate the effectiveness in different clinical phenotypes.

Methods: Participants were categorised into one of five subtypes using a previously reported classification scheme based on cluster analysis.

Endoscopic revision surgery for ossicular chain reconstruction: intraoperative findings and functional outcomes.

Purpose: To report the intraoperative observations and hearing outcomes in patients undergoing endoscopic revision ossiculoplasty.

Methods: A retrospective cohort of patients who had undergone revision ossiculoplasty were enrolled in this study. Intraoperative findings were documented.

ABCC1 deficiency potentiated noise-induced hearing loss in mice by impairing cochlear antioxidant capacity.

The ABCC1 gene belongs to the ATP-binding cassette membrane transporter superfamily, which plays a crucial role in the efflux of various endogenous and exogenous substances. Mutations in ABCC1 can result in autosomal dominant hearing loss. However, the specific roles of ABCC1 in auditory function are not fully understood.

Construction and validation of a folate metabolism-related gene signature for predicting prognosis in HNSCC.

Purpose: Metabolic reprogramming is currently considered a hallmark of tumor and immune development. It is obviously of interest to identify metabolic enzymes that are associated with clinical prognosis in head and neck squamous cell carcinomas (HNSCC).

Methods: Candidate genes were screened to construct folate metabolism scores by Cox regression analysis.

Susceptibility of immature spiral ganglion neurons to aminoglycoside-induced ototoxicity is mediated by the TRPV1 channel in mice.

Aminoglycoside antibiotics are among the most common agents that can cause sensorineural hearing loss. From clinical experience, premature babies, whose inner ear is still developing, are more susceptible to aminoglycoside-induced ototoxicity, which is echoed by our previous study carried out in organotypic cultures. This study aimed to investigate whether a nonselective cation channel, TRPV1, contributes to the susceptibility of immature spiral ganglion neurons (SGNs) to the damage caused by aminoglycosides.

A Novel EYA1 Mutation Causing Alternative RNA Splicing in a Chinese Family With Branchio-Oto Syndrome: Implications for Molecular Diagnosis and Clinical Application.

Objectives: Branchio-oto syndrome (BOS) primarily manifests as hearing loss, preauricular pits, and branchial defects. EYA1 is the most common pathogenic gene, and splicing mutations account for a substantial proportion of cases. However, few studies have addressed the structural changes in the protein caused by splicing mutations and potential pathogenic factors, and several studies have shown that middle-ear surgery has limited effectiveness in improving hearing in these patients.

Gene regulation analysis of patient-derived iPSCs and its CRISPR-corrected control provides a new tool for studying perturbations of ELMOD3 c.512A>G mutation during the development of inherited hearing loss.

The ELMOD3 gene is implicated in causing autosomal recessive/dominant non-syndromic hearing loss in humans. However, the etiology has yet to be completely elucidated. In this study, we generated a patient-derived iPSC line carrying ELMOD3 c.

Genetic research progress in branchiooto syndrome/ branchiootorenal syndrome.

Branchio-oto syndrome (BOS)/branchio-oto-renal syndrome (BORS) is a kind of autosomal dominant heterogeneous disorder. These diseases are mainly characterized by hearing impairment and abnormal phenotype of ears, accompanied by renal malformation and branchial cleft anomalies including cyst or fistula, with an incidence of 1/40 000 in human population. Otic anormalies are one of the most obvious clinical manifestations of BOS/BORS, including deformities of external, middle, inner ears and hearing loss with conductive, sensorineural or mix, ranging from mild to profound loss.

Otological manifestations in branchiootorenal spectrum disorder: A systematic review and meta-analysis.

Branchiootorenal spectrum disorder (BORSD) is a group of rare autosomal dominant entities characterized by branchiogenic malformations, hearing loss (HL) and renal anomalies. It comprises branchiootorenal syndrome and branchiootic syndrome, distinguished by the presence or absence of renal abnormalities. Pathogenic variants have been discovered in the following genes: EYA1, SIX5, SIX1 and SALL1.

Elmod3 knockout leads to progressive hearing loss and abnormalities in cochlear hair cell stereocilia.

ELMOD3, an ARL2 GTPase-activating protein, is implicated in causing hearing impairment in humans. However, the specific role of ELMOD3 in auditory function is still far from being elucidated. In the present study, we used the CRISPR/Cas9 technology to establish an Elmod3 knockout mice line in the C57BL/6 background (hereinafter referred to as Elmod3-/- mice) and investigated the role of Elmod3 in the cochlea and auditory function.

Novel insights into ion channels in cancer stem cells (Review).

Cancer stem cells (CSCs) are immortal cells in tumor tissues that have been proposed as the driving force of tumorigenesis and tumor invasion. Previously, ion channels were revealed to contribute to cancer cell proliferation, migration and apoptosis. Recent studies have demonstrated that ion channels are present in various CSCs; however, the functions of ion channels and their mechanisms in CSCs remain unknown.