Results 51 to 60 of about 35,564 (288)

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

The Contributions of Vestibular Evoked Myogenic Potentials and Acoustic Vestibular Stimulation to Our Understanding of the Vestibular System [PDF]

, 2018
Vestibular-evoked myogenic potentials (VEMPs) are short-latency muscle reflexes typically recorded from the neck or eye muscles with surface electrodes.
Colebatch, JG ; https://orcid.org/, James G. Colebatch, Rosengren, SM, Sally M. Rosengren   +3 more
core   +2 more sources

Vestibular evoked myogenic potentials in patients with diabetes mellitus

Journal of Otology, 2019
Although the exact mechanism and most involved region of the vestibular system have not yet been fully clarified, vestibular dysfunction has been demonstrated in patients with diabetes mellitus (DM). Vestibular evoked myogenic potential (VEMP) is a short
Ali Bayram
doaj   +1 more source

Distinct Neuropsychiatric Profiles Associated With 17p11.2 Deletions and RAI1 Variants in Smith–Magenis Syndrome

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Smith–Magenis syndrome (SMS) results from either a recurrent 17p11.2 deletion or pathogenic variants in the retinoic acid induced 1 gene (RAI1). While neurodevelopmental impairment and behavioral dysregulation are well recognized, systematic genotype‐stratified analyses across psychiatric domains remain limited.
Albin Blanc, Christophe Nemos, Céline Bonnet, Mathilde Renaud, Sandra Chapuis, Pauline Boiroux, Marie‐Noëlle Babinet, Caroline Demily   +7 more
wiley   +1 more source

Vertiginous Symptoms and Objective Measures of Postural Balance in Elderly People with Benign Paroxysmal Positional Vertigo Submitted to the Epley Maneuver

International Archives of Otorhinolaryngology, 2016
Introduction Benign Paroxysmal Positional Vertigo (BPPV) is one of the most common and treatable causes of peripheral vestibular vertigo in adults. Its incidence increases with age, eventually leading to disability and a decreased quality of life.
Camila Nicácio da Silva, Karyna Myrelly O. B. de Figueiredo Ribeiro, Raysa Vanessa de Medeiros Freitas, Lidiane Maria de Britho Macedo Ferreira, Ricardo Oliveira Guerra   +4 more
doaj   +1 more source

Editorial: Vestibular Contributions to Health and Disease [PDF]

Frontiers in Neurology, 2018
The inter-related functions of several systems that evolved hundreds of millions of years ago, the vestibular, sympathetic, and cardiovascular systems, have important clinical implications in modern neurology and neuro-otology. Operating largely out of consciousness, the vestibular system responds to head and body movement in any direction, stabilizes ...
Bernard Cohen, Richard Lewis, Richard Lewis   +2 more
openaire   +3 more sources

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

Perspective: Stepping Stones to Unraveling the Pathophysiology of Mal de Debarquement Syndrome with Neuroimaging

Frontiers in Neurology, 2018
Mal de debarquement syndrome (MdDS) is a neurological condition typically characterized by a sensation of motion, which in most cases manifests after disembarking from a vehicle (e.g., boat, plane, and car).
Viviana Mucci, Yoon-Hee Cha, Floris L. Wuyts, Angelique Van Ombergen   +3 more
doaj   +1 more source

Progress in Research on Vestibular Rehabilitation Therapy

, 2016
The deterioration of vestibular function is a side effect of numerous diseases of the inner ear. Vertigo is the most common symptom of vestibular dysfunction.
Qi Guo, Yue Wang
core   +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