Results 71 to 80 of about 103,722 (368)

The Provision of Patient Information about Nystagmus

British and Irish Orthoptic Journal, 2018
Aims: The aims of this study were to evaluate the current provision of patient information about nystagmus in orthoptic clinics in the UK and Ireland and to develop a standardised information pack about nystagmus.
Anne Bjerre, Gemma E. Arblaster, Arthur Nye, Helen J. Griffiths   +3 more
doaj   +1 more source

HCN2‐Associated Neurodevelopmental Disorders: Data from Patients and Xenopus Cell Models

Annals of Neurology, EarlyView.
Objective We aimed to characterize the phenotypic spectrum and functional consequences associated with variants in HCN2, encoding for the hyperpolarization‐activated cyclic nucleotide (HCN) gated channel 2. Methods GeneMatcher facilitated the recruitment of 21 individuals with HCN2 variants from 15 unrelated families, carrying HCN2 variants.
Clara Houdayer, A. Marie Phillips, Marie Chabbert, Jennifer Bourreau, Reza Maroofian, Henry Houlden, Kay Richards, Nebal Waill Saadi, Eliška Dad'ová, Patrick Van Bogaert, Mailys Rupin, Boris Keren, Perrine Charles, Thomas Smol, Audrey Riquet, Lynn Pais, Anne O'Donnell‐Luria, Grace E. VanNoy, Allan Bayat, Rikke S Møller, Kern Olofsson, Rami Abou Jamra, Steffen Syrbe, Majed Dasouki, Laurie H. Seaver, Jennifer A. Sullivan, Vandana Shashi, Fowzan S. Alkuraya, Alexis F. Poss, J. Edward Spence, Rhonda E. Schnur, Ian C. Forster, Chaseley E. Mckenzie, Cas Simons, Min Wang, Penny Snell, Kavitha Kothur, Michael Buckley, Tony Roscioli, Noha Elserafy, Benjamin Dauriat, Vincent Procaccio, Daniel Henrion, Guy Lenaers, Estelle Colin, Nienke E. Verbeek, Koen L. Van Gassen, Claire Legendre, Dominique Bonneau, Christopher A. Reid, Katherine B. Howell, Alban Ziegler, Christian Legros   +52 more
wiley   +1 more source

Progression of phenotype in Leber's congenital amaurosis with a mutation at the LCA5 locus [PDF]

, 2003
BACKGROUND: Leber’s congenital amaurosis (LCA) accounts for 5% of inherited retinal disease and is usually inherited as an autosomal recessive trait. Genetic and clinical heterogeneity exist.
Inglehearn, C.F., Jafri, H., McKibbin, M.A., Mohamed, M.D., Raashed, Y., Topping, N.C   +5 more
core   +1 more source

The Prevalence of Nystagmus: The Leicestershire Nystagmus Survey

Investigative Opthalmology & Visual Science, 2009
Nystagmus, which can be infantile (congenital) or acquired, affects all ages. The prevalence of nystagmus in the general population is unknown. New genetic research and therapeutic modalities are emerging. Previous estimates have been based on wider ophthalmic epidemiologic studies within specific occupational or age groups. The authors carried out the
Sarvananthan, N, Surendran, M, Roberts, EO, Jain, S, Thomas, S, Shah, N, Proudlock, FA, Thompson, JR, McLean, RJ, Degg, C, Woodruff, G, Gottlob, I   +11 more
openaire   +4 more sources

Idiopathic Infantile Nystagmus; Genetics foundation and Clinical association

Journal of Biochemical and Clinical Genetics, 2023
Nystagmus is an involuntary, periodic eye movement caused by a slow drift of fixation of either jerk, pendular, or rotatory form. The clinical and molecular assessment of nystagmus can provide crucial elements for a state-of-the-art differential ...
Basamat AlMoallem
doaj   +1 more source

Infant Death due to Cannabis Ingestion

Drug Testing and Analysis, EarlyView.
ABSTRACT A child died in the emergency room of a local hospital a few hours after ingesting a substance the color of cork and the consistency of earth. At home, a modest amount of resinous substance was found. At the hospital, the child exhibited alterations in walking, balance, and consciousness.
Donata Favretto, Antonello Cirnelli, Roberto Pertile, Raffaella Stimamiglio, Clara Cestonaro, Oriana Cuman, Anna Pagliaro, Fabio Mattiazzi, Cristina Basso, Maddalena Galeazzi   +9 more
wiley   +1 more source

Efficiency of nistagmus treatment method using videooculography in a long-term observation [PDF]

Саратовский научно-медицинский журнал, 2017
The purpose of the study was to investigate the efficiency of nistagmus treatment method using videooculography in a long-term observation. Material and methods. 288 patients were examined.
Doroshenko А.А., Radevich S.B., Postelga А.Е., Usanova Т.В., Kamenskikh T.G., Usanov D.A.   +5 more
doaj  

Nationwide resource utilization of dizziness/vertigo presentations to the ED

Eye &ENT Research, EarlyView.
Abstract Objective This study aims to assess overall rates of neuroimaging (computed tomography [CT] or magnetic resonance imaging [MRI]) and cerebrovascular accidents (CVAs) in patients presenting to the emergency department (ED) with primary diagnoses of dizziness/vertigo to determine if neuroimaging is overused in this population.
David O’Neil Danis III, Matthew Kovoor, Emily K. Gjini, Jonathon S. Sillman, Kathryn Y. Noonan   +4 more
wiley   +1 more source

Cupulolithiasis as an Alternative Mechanism for Pseudo-spontaneous Nystagmus in Horizontal Canal Benign Paroxysmal Positional Vertigo

OTO Open, 2022
Benign paroxysmal positional vertigo of the horizontal semicircular canal may present a differential diagnostic challenge. In addition to the classical positional nystagmus, a persistent nystagmus in a seated position occasionally occurs, so-called ...
Felix K. Schwarz MD, Erich Vyskocil MD, Bela Büki MD, PhD, Gerald Wiest MD   +3 more
doaj   +1 more source

Severity of effect considerations regarding the use of mutation as a toxicological endpoint for risk assessment: A report from the 8th International Workshop on Genotoxicity Testing (IWGT)

Environmental and Molecular Mutagenesis, EarlyView.
Abstract Exposure levels without appreciable human health risk may be determined by dividing a point of departure on a dose–response curve (e.g., benchmark dose) by a composite adjustment factor (AF). An “effect severity” AF (ESAF) is employed in some regulatory contexts.
Barbara L. Parsons, Marc A. Beal, Kerry L. Dearfield, George R. Douglas, Min Gi, B. Bhaskar Gollapudi, Robert H. Heflich, Katsuyoshi Horibata, Michelle Kenyon, Alexandra S. Long, David P. Lovell, Anthony M. Lynch, Meagan B. Myers, Stefan Pfuhler, Alisa Vespa, Andreas Zeller, George E. Johnson, Paul A. White   +17 more
wiley   +1 more source