Results 91 to 100 of about 34,450 (249)

Precision Medicine in Neurodegeneration with Brain Iron Accumulation (NBIA) Disorders: An Update on Emerging Treatments

Movement Disorders Clinical Practice, EarlyView.
Abstract Background Neurodegeneration with Brain Iron Accumulation (NBIA) is a heterogeneous group of heritable, mostly recessive, progressive neurodegenerative diseases characterized by iron deposition in the basal ganglia and brainstem. There are no solid global epidemiological data on prevalence and incidence of NBIA subtypes, but registry data and ...
Susanne A. Schneider, Divyani Garg, Vassilena Iankova, Thomas Klopstock   +3 more
wiley   +1 more source

DNA Repair Pathway Variants Are Enriched in Individuals with Biallelic AAGGG CANVAS and RFC1‐Related Disease

Movement Disorders, EarlyView.
Abstract Background Cerebellar ataxia, neuropathy and vestibular are flexia syndrome (CANVAS) and RFC1‐related disease are most commonly caused by biallelic AAGGG repeat expansions in RFC1. The high population frequency of this expansion compared to the frequency of CANVAS suggests incomplete penetrance.
Xuemin Wang, Liam G. Fearnley, Kayli C. Davies, Penny Snell, Stuart Lee, Victoria E. Jackson, Justin Read, Michael Milton, Ian H. Harding, Martin B. Delatycki, David J. Szmulewicz, Paul J. Lockhart, Melanie Bahlo, Haloom Rafehi   +13 more
wiley   +1 more source

Why Use Immersive Virtual Reality to Assess Gait in Functional Motor Disorders?

Movement Disorders, EarlyView.
Abstract Background Functional motor disorders (FMD) are disabling conditions modulated by attentional demands. Immersive virtual reality (iVR) engages multiple attentional and sensory networks, but its application in people with FMD (PwFMD) remains limited.
Marialuisa Gandolfi, Chiara Bonetto, Corrado Perin, Angela Sandri, Giulia Bonardi, Ilaria Antonella Di Vico, Laura Avanzino, Elisa Pelosin, Mauro Crestani, Christian Geroin, Denis Vidale, Marco Pirini, Mirta Fiorio, Michele Tinazzi, Francesca Salaorni   +14 more
wiley   +1 more source

Structural Brain and Spinal Cord Signature of Spinocerebellar Ataxia 27B: A Multisite MRI‐Based Study

Movement Disorders, EarlyView.
Abstract Background SCA27B is a recently described ataxia, the precise anatomical basis of which remains unclear. Objective The goal was to characterize the structural brain and spinal cord magnetic resonance imaging (MRI) signature of spinocerebellar ataxia 27B (SCA27B) using multimodal quantitative imaging.
Nadson Bruno Serra Santos, Camila Caroso Lobo, Thiago Junqueira Ribeiro Rezende, Alberto Rolim Muro Martinez, Luiza A. Corazza, Luiz Eduardo Novis, Orlando Graziani Povoas Barsottini, José Luiz Pedroso, Pedro José Tomaselli, Wilson Marques Jr, Antônio Carlos dos Santos, David Pellerin, Bernard Brais, Roberta La Piana, Jemimah Harding, Penny Snell, Paul J. Lockhart, David Szmulewicz, Ian H. Harding, Marcondes Cavalcante França Jr   +19 more
wiley   +1 more source

Mild hypoxia adversely impacts human vestibular function

Scientific Reports
Hypoxia has been found to adversely affect sensory function at altitudes above 3000 m, but sensory decrements have not been reported in peer-reviewed literature at or below 2400 m nor has research focused on the impact of hypoxia on human vestibular ...
Max A. Teaford, Kyle A. Kainec, Kyle A. Pettijohn, John G. Oas, Anne Crecelius, Wei Wang, Morgan L. Worley, Daniel M. Merfeld   +7 more
doaj   +1 more source

The Audiologic and Otolaryngologic Phenotype in WHIM Syndrome

Otolaryngology–Head and Neck Surgery, EarlyView.
Abstract Objective WHIM syndrome (warts, hypogammaglobulinemia, infections, and myelokathexis syndrome) is an ultra‐rare primary immunodeficiency disease caused by autosomal dominant hyperfunctional mutations in the chemokine receptor CXCR4. Otolaryngologists are frequently consulted to evaluate WHIM patients because of recurrent acute ear and sinus ...
Christopher K. Zalewski, H. Jeffrey Kim, Carmen C. Brewer, Sophia Martinez, Caroline Rieger, Elena Cho, David H. McDermott, Philip M. Murphy   +7 more
wiley   +1 more source

Cisplatin vestibulotoxicity: a current review

Frontiers in Surgery
Cisplatin, a commonly used chemotherapy drug, is well-established for its ototoxic effects, primarily attributed to the damage it inflicts on cochlear hair cells. However, its impact on the vestibular system remains inadequately understood.
Tamara Fleihan, Marc Elie Nader, J. David Dickman   +2 more
doaj   +1 more source

Molecular Biomarkers in Meniere's Disease: A Scoping Review of Current Evidence

Otolaryngology–Head and Neck Surgery, EarlyView.
Abstract Objective Meniere's disease is a complex chronic inner ear condition that is characterized by vertigo, tinnitus, aural fullness, and progressive hearing loss. Currently, diagnostic strategies remain symptom‐driven, and treatments focus on management of discrete episodes rather than targeting underlying pathophysiology.
Hamza Kamran, Zaharadeen Jimoh, Tariq Issa, Nahla A. Gomaa   +3 more
wiley   +1 more source

Effects of Minority Status on Sensory Outcomes, Cognition, and Depression

Otolaryngology–Head and Neck Surgery, EarlyView.
Abstract Objective To evaluate the association between minority status and sensory function, sleep quality, depressive symptoms, and cognitive performance in an aging population. Study Design Prospective, cross‐sectional study. Setting Participants were recruited from the Department of Otolaryngology and the Center for Cognitive Neuroscience and Aging ...
Ivette Cejas, Jennifer Coto, Aria Nawab, Alberto Cruz, Sandra Velandia, Pawan Pathagamage, Molly Smeal, Rosie C. Cid, David Loewenstein, Xue Z. Liu   +9 more
wiley   +1 more source

Association of Nasal Anatomy, Airflow, and Surgery With Olfactory Outcomes: A State‐of‐the‐Art Review

Otolaryngology–Head and Neck Surgery, EarlyView.
Abstract Objective Olfactory function is influenced by nasal airflow dynamics and anatomical variations within the nasal cavity. This narrative review evaluates how nasal anatomy and airflow relate to olfactory outcomes, with a particular focus on olfactory changes following functional nasal surgery. Data Sources PubMed.
Joshua Ferreira, Alfonso Luca Pendolino, Riccardo Pappalardo, Peter J. Andrews   +3 more
wiley   +1 more source