Results 41 to 50 of about 31,152 (262)

Histidine Supplementation Stabilizes Hearing and Vision and Improves Growth in HARS1‐Related Autosomal Recessive Disorder Associated With Usher‐Like Symptoms

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Autosomal recessive HARS1‐related disorder (originally described as Usher syndrome type 3B) caused by a homozygous Y454S variant in the histidyl‐tRNA synthetase gene (HARS1) is characterized by progressive sensorineural hearing and vision loss and respiratory deterioration with risk for sudden death following febrile illnesses.
Victoria Mok Siu, Rosan Kenana, Rana Chakrabarti, Sarah D. P. Wilhelm, Joseph Andrews, Susan J. Leat, Christina Parker, Michael Miller, Leslie A. Nangle, Wendy McCaul, Ashfia Chowdhury, Natalie Hutchings, Ryan A. Adams, Lauren Guy, Mandy Rhody, Verena Juncal, Marisa I. Mendes, Desiree E. C. Smith, Gajja S. Salomons, Angelica A. Moresco, Daphne L. McCulloch, D. Holmes Morton, Ilka U. Heinemann, C. Anthony Rupar   +23 more
wiley   +1 more source

Review of the Molecular and Developmental Basis of Myhre Syndrome, Bench Research

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Myhre syndrome (MS) is a connective‐tissue disorder within the acromelic dysplasia spectrum. It is characterized by congenital craniofacial, skeletal, cutaneous anomalies, respiratory, cardiovascular along with intellectual disability, deafness, and progressive fibrosis.
Camille Viaut, Valerie Cormier‐Daire
wiley   +1 more source

Persistence of vestibular function in the absence of glutamatergic transmission from hair cells

Scientific Reports
Quantal synaptic transmission in vestibular endorgans is glutamatergic. Here, we investigated the vestibular phenotype of deaf Vglut3 −/− (Slc17a8 −/− ) mice from the cellular to behavioral levels.
Mohona Mukhopadhyay, Ruchi Modgekar, Aizhen Yang-Hood, Kevin K. Ohlemiller, Valentin Militchin, Maolei Xiao, Zhijun Shen, Nicholas R. Rensing, Michael Wong, Suh Jin Lee, Rebecca P. Seal, Joseph C. Holt, Mark E. Warchol, Susan E. Maloney, Carla M. Yuede, Mark A. Rutherford, Tina Pangrsic   +16 more
doaj   +1 more source

North American Delphi Consensus Study on Sinonasal Malignancy Survivorship Care

International Forum of Allergy &Rhinology, EarlyView.
ABSTRACT Background Survival for patients with sinonasal cancers has improved over the past decades, but there are no dedicated survivorship guidelines for this cohort. Objective To understand experts’ priorities and perspectives on key survivorship tenets (surveillance, second tumor screening, toxicity, and symptom management).
Matheus Sewastjanow‐Silva, Samagra Jain, Rita Snyder, Erin L. McKean, Ralph Abi Hachem, Nithin D. Adappa, J. Ken Byrd, Ricardo L. Carrau, Marc A. Cohen, Ivan H. El‐Sayed, Mathew N. Geltzeiler, Ehab Y. Hanna, Edward C. Kuan, Nyall R. London Jr., Zoukaa B. Sargi, Carl H. Snyderman, Marilene B. Wang, Ian J. Witterick, Shirley Y. Su   +18 more
wiley   +1 more source

What can vestibular-evoked myogenic potentials tell us about vestibular schwannomas?

Neurological Sciences and Neurophysiology, 2020
A 27-year-old female presented with complaints of dizziness and tinnitus in the right ear. The neurological examination and the audiometry were completely normal.
Roza Ucar, Feray Güleç-Uyaroğlu, Neşe Çelebisoy   +2 more
doaj   +1 more source

Partial hearing recovery after cochlear nerve surface transplantation of hair follicle‐derived neural crest stem cells in neural hearing loss rat

Animal Models and Experimental Medicine, EarlyView.
This study comprises three experimental parts. Part 1. Time‐course of ouabain‐induced hearing loss. Rats received ouabain (10 mM) via round window application. ABR/DPOAE tests and histological analyses were performed at 2, 7, and 30 days post‐treatment to characterize SGN and glial cell degeneration. Part 2.
Huidong Chen, Yunlong Zhang, Huanzhi Wan, Bingqian Yang, Tianyi Liu, Jie Wang, Hua Liao, Yuanyuan Zhang, Zhijian Zhang, Qingquan Hua   +9 more
wiley   +1 more source

Vestibular dysfunction and postural balance in cochlear implant users: a narrative literature review

Revista CEFAC
Cochlear implants directly stimulate nerve fibers and ganglion cells of the auditory nerve, which transform sound energy into low levels of electrical current, stimulating the remaining fibers of the auditory nerve in patients with severe to profound ...
Juliana Jandre Melo, Paula Carolina Dias Gibrin, Luciana Lozza de Moraes Marchiori   +2 more
doaj   +1 more source

Statistical shape modeling of the human inner ear through micro‐computed tomography imaging

The Anatomical Record, EarlyView.
In this study, 54 cadaveric temporal bone specimens underwent high‐resolution micro‐CT imaging. Images were semi‐automatically segmented and converted to 3D surface mesh models for morphological measurement and analysis. Statistical shape models were created for the inner ear, cochlea, and vestibular system, as well as for sex‐ and side‐based subgroups.
Carmine Spedaliere, Alexandra Vaupotic, Jaehyun Hwang, Khalil Husein, Mustafa Hafidh, Kyle Rioux, S. Alireza Rohani, Sumit K. Agrawal, Hanif M. Ladak   +8 more
wiley   +1 more source

Lingual Nerve Anesthesia: A Rare Atypical Presentation of a Vestibular Schwannoma

Graduate Medical Education Research Journal, 2020
Mentor: Jason Untrauer Program: Surgery, Division of Oral & Maxillofacial Surgery Type: Case Report Background: Vestibular schwannomas (VS) are benign, slow-growing tumors that develop from the vestibular nerve. They classically present with hearing loss
Blair Racker, Tyler J. Holley, Lei Yu, Jason Untrauer   +3 more
doaj   +1 more source

Vestibular Evoked Myogenic Potential on Ocular, Cervical, and Soleus Muscles to Assess the Extent of Neurological Impairment in HTLV-1 Infection

Frontiers in Neurology, 2020
Introduction: Vestibular Evoked Myogenic Potential (VEMP) can be used to test central vestibular pathways from the midbrain to the lumbar spine, according to the muscle tested.Purpose: to compare the spinal cord alteration in individuals with HTLV-1 ...
Tatiana Rocha Silva, Marco Aurélio Rocha Santos, Luciana Macedo de Resende, Ludimila Labanca, Ludimila Labanca, Júlia Fonseca de Morais Caporali, Rafael Teixeira Scoralick Dias, Denise Utsch Gonçalves   +7 more
doaj   +1 more source