Single Administration of AAV-mAtp6v1b2 Gene Therapy Rescues Hearing and Vestibular Disorders Caused by Atp6v1b2-Induced Lysosomal Dysfunction in Hair Cells.

Haploinsufficiency of the ATP6V1B2, a subunit of V-ATPases, underlies genetic disorders including Dominant deafness-onychodystrophy (DDOD), deafness, onychodystrophy, osteodystrophy, mental retardation and seizures (DOORS), and Zimmermann-Laband syndromes, all characterized by congenital hearing loss and onychodystrophy. Effective therapies for ATP6V1B2-associated hearing loss remain elusive. The study generates a hair cell-specific knockout mouse (Atp6v1b2;Atoh1) recapitulating the human phenotypes, with pathological features including hair cell loss and abnormal lysosomal morphology and function.

Does the site of research evidence generation impact on its translation to clinical practice? A protocol paper.

The research-to-practice gap is a well-known phenomenon. The adoption of evidence into clinical practice needs to consider the complexity of the health care system and a multitude of contextual issues. Research evidence is usually a form of extrinsic motivation for practice change, but works best when it aligns with the intrinsic values of the system and the people in it.

Management of Pediatric Voice Disorders: Perceived Knowledge, Attitude, and Practice Patterns Among Otolaryngologists in Southwest China.

Objective: This study aimed to investigate the knowledge, attitude, and practice patterns of otolaryngologists in Southwest China in managing pediatric dysphonia.

Study Design: Cross-sectional survey.

Setting: An online survey was disseminated between August and September 2023 to hospital-based otolaryngologists in Southwest China.

Genomic and phenotypic landscapes of X-linked hereditary hearing loss in the Chinese population.

Background: Hearing loss (HL) is the most common sensory birth deficit worldwide, with causative variants in more than 150 genes. However, the etiological contribution and clinical manifestations of X-linked inheritance in HL remain unclear within the Chinese HL population. In this study, we focused on X-linked hereditary HL and aimed to assess its contribution to hereditary HL and identify the genotype-phenotype relationship.

[Deep transfer learning radiomics model based on temporal bone CT for assisting in the diagnosis of inner ear malformations].

To evaluate the diagnostic efficacy of traditional radiomics, deep learning, and deep learning radiomics in differentiating normal and inner ear malformations on temporal bone computed tomography（CT）. A total of 572 temporal bone CT data were retrospectively collected, including 201 cases of inner ear malformation and 371 cases of normal inner ear, and randomly divided into a training cohort（=458） and a test cohort（=114） in a ratio of 4∶1. Deep transfer learning features and radiomics features were extracted from the CT images and feature fusion was performed to establish the least absolute shrinkage and selection operator.

Changes in hearing function and intracochlear morphology after electrode array insertion in minipigs.

Background: In temporal bone specimens from long-term cochlear implant users, foreign body response within the cochlea has been demonstrated. However, how hearing changes after implantation and fibrosis progresses within the cochlea is unknown.

Objectives: To investigate the short-term dynamic changes in hearing and cochlear histopathology in minipigs after electrode array insertion.

Clinical Application of the 4K-3D Exoscope System in Cochlear Implantation.

Purpose: To evaluate a system for otomicrosurgery based on 4K three-dimensional (3D) exoscope technology and apply it to cochlear implantation.

Methods: An open stereoscopic vision-based surgical system, which differs from traditional surgical microscopes, was created by utilizing 4K stereo imaging technology and combining it with low-latency 4K ultra-high-definition 3D display. The system underwent evaluation based on 57 cochlear implantation operations, three designed microscopic manipulations, and a questionnaire survey.

[Clinical characteristics and prognosis of two anastomosis techniques in the treatment of facial nerve defects].

To investigate the characteristics and prognosis of two anastomosis techniques in repairing facial nerve defects. A retrospective analysis was conducted on 30 patients who underwent facial nerve anastomosis（direct or rerouting） for facial nerve defects in our department from January 2012 to December 2021. Among them, 21 were male and 9 were female, with an average age of（37.

Targeted Linked-Read Sequencing for Direct Haplotype Phasing of Parental GJB2/SLC26A4 Alleles: A Universal and Dependable Noninvasive Prenatal Diagnosis Method Applied to Autosomal Recessive Nonsyndromic Hearing Loss in At-Risk Families.

Noninvasive prenatal diagnosis (NIPD) for autosomal recessive nonsyndromic hearing loss (ARNSHL) has been rarely reported until recent years. Additionally, the existing method can not be used for challenging genome loci (eg, copy number variations, deletions, inversions, or gene recombinants) or on families without proband genotype. This study assessed the performance of relative haplotype dosage analysis (RHDO)-based NIPD for identifying fetal genotyping in pregnancies at risk of ARNSHL.

Mitochondrial tRNA mutations associated non-syndromic sensorineural hearing loss in Chinese families.

Mitochondrial transfer RNA mutation is one of the most important causes of hereditary hearing loss in humans. Mitochondrial transfer RNA gene is another hot spot for mutations associated with non-syndromic hearing loss, besides the 12S ribosomal RNA gene. In this study, we assessed the clinical phenotype and the molecular characteristics of two Chinese families with non-syndromic hearing loss.

A capture-based method of prenatal cell-free DNA screening for autosomal recessive non-syndromic hearing loss.

Objective: This study aimed to develop and validate a prenatal cell-free DNA (cfDNA) screening method that uses capture-based enrichment to genotype fetal autosomal recessive disorders. This method was applied in pregnancies at high risk of autosomal recessive non-syndromic hearing loss (ARNSHL) to assess its accuracy and effectiveness.

Methods: This assay measured the allele counts in both white blood cell DNA and cfDNA from the blood samples of pregnant women using a capture-based next-generation sequencing method.

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.

Exploration of a Novel Noninvasive Prenatal Testing Approach for Monogenic Disorders Based on Fetal Nucleated Red Blood Cells.

Background: Due to technical issues related to cell-specific capture methods, amplification, and sequencing, noninvasive prenatal testing (NIPT) based on fetal nucleated red blood cells (fNRBCs) has rarely been used for the detection of monogenic disorders.

Methods: Maternal peripheral blood was collected from 11 families with hereditary hearing loss. After density gradient centrifugation and cellular immunostaining for multiple biomarkers, candidate individual fetal cells were harvested by micromanipulation and amplified by whole-genome amplification (WGA).

Virtual emergency care in Victoria: Stakeholder perspectives of strengths, weaknesses, and barriers and facilitators of service scale-up.

Background: Virtual emergency services have been proposed as an alternative service model to conventional in-person emergency department attendance.

Methods: Twenty participants were interviewed: 10 emergency medicine physicians, 4 health care consumers, and 6 other health care professionals. Conventional content analysis was performed on the interview transcriptions to identify perceived strengths and weaknesses of the VED, and barriers and facilitators to scaling-up the VED.

Surgical management and the prognosis of iatrogenic facial nerve injury in middle ear surgery: a 20-year experience.

Background: Iatrogenic facial nerve injury is one of the severest complications of middle ear surgery, this study aims to evaluate surgical management and prognosis in the era of improved surgical instruments.

Methods: Patients suffered from facial nerve paralysis after middle ear surgery between January 2000 and December 2019 were retrospectively collected. Demographic characters, primary disease and surgery, details of revision surgery were analyzed.

Preimplantation genetic testing for hereditary hearing loss in Chinese population.

Purpose: To evaluate the clinical validity of preimplantation genetic testing (PGT) to prevent hereditary hearing loss (HL) in Chinese population.

Methods: A PGT procedure combining multiple annealing and looping-based amplification cycles (MALBAC) and single-nucleotide polymorphisms (SNPs) linkage analyses with a single low-depth next-generation sequencing run was implemented. Forty-three couples carried pathogenic variants in autosomal recessive non-syndromic HL genes, GJB2 and SLC26A4, and four couples carried pathogenic variants in rare HL genes: KCNQ4, PTPN11, PAX3, and USH2A were enrolled.

Identifying Public Healthcare Priorities in Virtual Care for Older Adults: A Participatory Research Study.

Unlabelled: There has been increasing adoption and implementation of virtual healthcare in recent years, especially with COVID-19 impacting the world. As a result, virtual care initiatives may not undergo stringent quality control processes to ensure that they are appropriate to their context and meet sector needs. The two objectives of this study were to identify virtual care initiatives for older adults currently in use in Victoria and virtual care challenges that could be prioritised for further investigation and scale-up and to understand why certain virtual care initiatives and challenges are prioritised over others for investigation and scale-up.

Cochlear implantation in a patient with congenital microtia, cochlear hypoplasia, venous anomalies of the temporal bone and laryngomalacia: Challenges and surgical considerations.

Rationale And Patient Concerns: Congenital hearing loss is often caused by an inner ear malformation, in such cases, the presence of other anomalies, such as microtia, and venous anomalies of the temporal bone and laryngomalacia makes it challenging to perform cochlear implantation surgery.

Diagnoses: This study reports the case of a 28-month-old girl with congenital profound hearing loss, laryngomalacia, and malformed inner ear, who received cochlear implantation surgery. The bony structure, vessels and nerves were first assessed through magnetic resonance imaging and computed tomography before exploring the genetic basis of the condition using trio-based whole exome sequencing.

The use and effects of whole-body exercises on swallowing function: A scoping review.

Background: Swallowing function can become impaired due to primary medical conditions or age-related presbyphagia, resulting in swallowing disorders, known as dysphagia. Specific manoeuvres that target different musculature have been innovated and researched, but whole-body exercises (WBE) that target multiple large groups of body systems and muscles have been rarely considered in dysphagia management, despite the causes of dysphagia being often systemic.

Aims: To identify intervention studies that have used or incorporated WBE to target swallowing function in humans, and report on their findings.

Quantitative assessment of low-level parental mosaicism of SNVs and CNVs in Waardenburg syndrome.

Waardenburg syndrome (WS) is a rare inherited autosomal dominant disorder caused by SOX10, PAX3, MITF, EDNRB, EDN3, and SNAI2. A large burden of pathogenic de novo variants is present in patients with WS, which may be derived from parental mosaicism. Previously, we retrospectively analyzed 90 WS probands with family information.