Results 61 to 70 of about 81,181 (312)

Identification of a De Novo MAGEL2 Pathogenic Variant in Schaaf–Yang Syndrome and the Importance of Paternal Allele Confirmation

Journal of Clinical Laboratory Analysis, EarlyView.
This study reports a de novo MAGEL2 pathogenic variant in a patient with Schaaf–Yang syndrome, confirmed through methylation‐sensitive analysis. Combining genomic sequencing with methylation assays helps accurately determine the parental origin of MAGEL2 mutations.
Youn‐Ji Hong, Misun Yang, Hyeon Jeong Kwon, Jooyoung Cha, Ja‐Hyun Jang, Sung Eun Wang, Eun Sun Lee, Mi‐Ae Jang   +7 more
wiley   +1 more source

Vestibular Evoked Myogenic Potentials to Diagnose Vestibular Neuritis: A Scoping Review

The Laryngoscope, EarlyView.
Standardization of stimulation and recording protocols is essential to improve comparability across VEMP studies. Integrating cervical and ocular VEMPs with other vestibular tests enhances diagnostic accuracy and supports precise localization of vestibular neuritis.
Diego Piatti, Laura Casagrande Conti, Gianluca Paolocci, Iole Indovina, Marco Tramontano, Leonardo Manzari   +5 more
wiley   +1 more source

Persistent Upbeat Positional Nystagmus in a Patient with Bilateral Posterior Canal Benign Paroxysmal Positional Vertigo

Case Reports in Otolaryngology, 2019
Here, we report a patient with persistent positional upbeat nystagmus in a straight supine position with no evident abnormal central nervous system findings.
Akihide Ichimura, Shigeto Itani
doaj   +1 more source

Mechanisms of Action and Targets of Nitric Oxide in the Oculomotor System [PDF]

, 1998
Nitric oxide (NO) production by neurons in the prepositus hypoglossi (PH) nucleus is necessary for the normal performance of eye movements in alert animals.
Escudero González, Miguel, Estrada Cerquera, Carmen, Moreno López, Bernardo   +2 more
core   +1 more source

Vestibular Dysfunction in Parkinson's Disease: A Systematic Review of Signs and Symptoms

Movement Disorders Clinical Practice, EarlyView.
Abstract Background Despite the growing interest in the link between Parkinson's disease (PD) neuropathology and vestibular system, there is still a lack of consensus about the presence of vestibular dysfunctions in PD. Objective This review aims to identify vestibular signs and symptoms reported in PD patients and to summarize and critically appraise ...
Francisco Rosado‐Martins, Beatriz Santos, Cláudia M. Costa, Tiago Eça, Raquel Bouça‐Machado, Joaquim J. Ferreira   +5 more
wiley   +1 more source

Biphasic nystagmus in horizontal semicircular canal benign paroxysmal positional vertigo: A case report

Acta Oto-Laryngologica Case Reports
Benign paroxysmal positional vertigo (BPPV) involving the horizontal semicircular canal (HSC) typically presents with unidirectional nystagmus during positional testing.
Akihide Ichimura
doaj   +1 more source

Downbeat Nystagmus Induced by Sedation in Lasik

Case Reports in Ophthalmological Medicine, 2012
Nystagmus was elicited during lasik under sedation in two patients that were treated for depression. Nystagmus was not present before or after surgery. Nystagmus can be pharmacologically induced and can be a hazard to refractive surgery.
Miguel Paciuc-Beja, Gerardo Mendieta
doaj   +1 more source

Ocular Motor Abnormalities in Functional Neurological Disorder: A Video‐Oculography Study

Movement Disorders Clinical Practice, EarlyView.
Abstract Background Functional neurological disorders (FND) can include various sensory, motor or cognitive symptoms. Eye movement recordings, measured through video‐oculography, could serve as biomarkers for characterizing these dysfunctions in FND.
Aude Sangare, Astrid de Liège, Bertrand Gaymard, Sophie Rivaud‐Péchoux, Cécilia Bonnet, Evžen Růžička, Jaromír May, Tereza Serranová, Francine Mesrati, Emmanuel Roze, Marie Vidailhet, Céline Louapre, Lionel Naccache, Béatrice Garcin   +13 more
wiley   +1 more source

Three-dimensional videonystagmography characteristics in patients with benign paroxysmal positional vertigo

Zhongguo Linchuang Yixue
ObjectiveTo analyze the characteristics of nystagmus during the Dix-Hallpike and Roll tests in patients with benign paroxysmal positional vertigo (BPPV) using three-dimensional videonystagmography (3D-VNG), in order to to optimize diagnostic and ...
Yujin ZHENG, Keguang CHEN, Kanglun JIANG, Feng XU, Ying QI, Xinsheng HUANG, Huaili JIANG   +6 more
doaj   +1 more source

Visual suppression of the vestibulo-ocular reflex during space flight [PDF]

Visual suppression of the vestibulo-ocular reflex was studied in 16 subjects on 4 Space Shuttle missions. Eye movements were recorded by electro-oculography while subjects fixated a head mounted target during active sinusoidal head oscillation at 0.3 Hz.
Moore, Thomas P., Pool, Sam L., Thornton, William E., Uri, John J.   +3 more
core   +1 more source