Inherited Spinocerebellar Ataxia Segregates with Intra-Familial Genetic Heterogeneity in a Consanguineous Pakistani Family: A Report of a Potential Novel Candidate Gene.

Hereditary spinocerebellar ataxia (SCA) is a group of genetic neurodegenerative disorders caused by a variety of gene variants. At least 44 types of SCAs have been identified to date, and more than 35 genes and hundreds of variants have been reported that are associated with SCAs. We have investigated a Pakistani consanguineous six-generation family with SCA by using whole-exome sequencing analysis.

Task-oriented Learning in Head and Neck Anatomy Using Virtual, Formalin-preserved, Soft-embalmed, and Plastinated Cadavers.

Background And Objective: The COVID 19 pandemic has changed the way the human anatomy is taught. A necessary shift towards online instruction, combined with a decrease in cadaver donation has resulted in the need for maximizing formalinized, soft-embalmed, computerized, and plastinated cadaver specimens. Task-oriented activities allow students to demonstrate acquired knowledge and skills.

Ferret contributions to the business of sensory neurobiology.

In this brief review, we will highlight the ferret Mustela putorius furo as an increasingly utilized animal model for sensory systems and cognitive neuroscience research. In particular, the human like hearing range of the ferret, coupled with their amenability to training, make them an especially useful model for auditory and multisensory neuroscience. These factors, combined with the increasing availability of virally mediated circuit dissection methods, mean they occupy a unique niche as a versatile and valuable research model.

Comparison of 4.54% hypertonic saline and 20% mannitol for brain relaxation during auditory brainstem implantation in pediatric patients: a single-center retrospective observational cohort study.

Background: Mannitol is frequently utilized to achieve intracranial brain relaxation during the retrosigmoid approach for auditory brainstem implantation (ABI). Hypertonic saline (HS) is an alternative for reducing intracranial pressure; however, its application during ABI surgery remains under-investigated. We aimed to compare the efficacy and safety between HS and mannitol for maintaining brain relaxation.

Boosting REsources And caregiver empowerment for Tracheostomy care at HomE (BREATHE) Study: study protocol for a stratified randomization trial.

Background: Annually, about 4000 US children undergo a tracheostomy procedure to provide a functional, safe airway. In the hospital, qualified staff monitor and address problems, but post-discharge this responsibility shifts entirely to caregivers. The stress and constant demands of caregiving for a child with a tracheostomy with or without ventilator negatively affect caregivers.

Skull Base Repair following Resection of Vestibular Schwannoma: A Systematic Review (Part 1: The Retrosigmoid Approach).

 Despite advances in skull-base reconstruction techniques, cerebrospinal fluid (CSF) leaks remain a common complication following retrosigmoid (RS) vestibular schwannoma (VS) surgery. We aimed to review and classify the available strategies used to prevent CSF leaks following RS VS surgery.  A systematic review, including studies of adults undergoing RS VS surgery since 2000, was conducted.

Skull Base Repair following Resection of Vestibular Schwannoma: A Systematic Review (Part 2: The Translabyrinthine Approach).

 Despite advances in skull base reconstruction techniques, cerebrospinal fluid (CSF) leaks remain a relatively common complication after translabyrinthine (TL) vestibular schwannoma (VS) surgery. We conducted a systematic review to synthesize the repair techniques and materials used in TL VS surgery to prevent CSF leaks.  A systematic review of studies published since 2000 reporting techniques to prevent CSF leaks during adult TL VS surgery was conducted.

Approach to otitis externa.

Objective: To provide family physicians with a practical evidence-based approach to management of otitis externa.

Sources Of Information: The approach described is based on MEDLINE and PubMed literature published between 1993 and 2023.

Main Message: Otitis externa is diffuse inflammation of the external auditory canal and typically occurs from moisture exposure and trauma.

Decoding Missense Variants by Incorporating Phase Separation via Machine Learning.

Computational models have made significant progress in predicting the effect of protein variants. However, deciphering numerous variants of uncertain significance (VUS) located within intrinsically disordered regions (IDRs) remains challenging. To address this issue, we introduce phase separation, which is tightly linked to IDRs, into the investigation of missense variants.

Evaluation of safety and effectiveness of the LISTENT LCI-20PI cochlear implant in prelingually deafened children.

Objectives: This prospective multicenter clinical trial was to evaluate the safety and effectiveness of a novel cochlear implant (CI) system, the LISTENT LCI-20PI device in prelingually deafened children (<6 years old).

Design: The LCI-20PI CI system was implanted in 70 prelingually deafened children (<6 years old). The median age (interquartile range) at implantation was 3 years old (2-4 years old).

Acoustic Analysis of Mandarin-Speaking Transgender Women.

Objectives: This study aims to investigate the speech characteristics and assess the potential risk of voice fatigue and voice disorders in Chinese transgender women (TW).

Methods: A case-control study was conducted involving TW recruited in Shanghai, China. The participants included 15 TW, 20 cisgender men (CISM), and 20 cisgender women (CISW).

Perspectives on the manipulation of mosquito hearing.

Vector control is essential for preventing mosquito-borne diseases. However, different challenges associated with the development of insecticide resistance and behavioural adaptations across mosquito populations means novel control strategies are urgently needed. In recent years, disrupting mosquito mating has emerged as an alternative target of control tools because of its potential to reduce mosquito population numbers.

Outcomes After Exoscopic Versus Microscopic Ossicular Chain Reconstruction.

Objective: To analyze the outcomes of exoscopic versus microscopic ossicular chain reconstruction (OCR).

Study Design: Retrospective chart review.

Setting: Tertiary care otology-neurotology practice.

Joint Association of Combined Healthy Lifestyle Factors and Hearing Loss With Cognitive Impairment in China.

Background: Hearing loss and lifestyle factors have been associated with cognitive impairment. We aimed to explore the joint association of combined healthy lifestyle factors and hearing loss with cognitive impairment, which has been scarcely studied.

Methods: This baseline study used data from the CHOICE-Cohort study (Chinese Hearing Solution for Improvement of Cognition in Elders).

A Prognostic Model to Predict Hearing Recovery in Patients With Idiopathic Sudden Onset Sensorineural Hearing Loss.

Importance: The prognosis of idiopathic sudden onset sensorineural hearing loss (iSSNHL) is uncertain, which creates challenges in clinical decision-making for ear, nose, and throat (ENT) physicians and adds to the burden of the condition experienced by patients.

Objective: To develop and internally validate a prognostic model for hearing recovery among patients with iSSNHL to support ENT surgeons in making informed and individualized treatment decisions.

Design, Settings, And Participants: This prognostic study and model used cohort data from the Sudden Onset Sensorineural Hearing Loss study, which included 812 patients (age ≥16 years) diagnosed with iSSNHL at 76 National Health Service ENT departments in the UK from December 2019 to May 2022.