Results 51 to 60 of about 74,410 (305)

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

Autosomal Recessive Cerebellar Ataxias: Translating Genes to Therapies

Annals of Neurology, EarlyView.
Autosomal recessive cerebellar ataxias are disabling neurodegenerative genetic conditions affecting balance and coordination. Advancements in genomic testing have improved diagnosis, leading to a new focus on the development of targeted precision therapeutics addressing cellular, biochemical, and genetic disease mechanisms with a resulting emphasis on ...
Brent L. Fogel, Thomas Klopstock, David R. Lynch, Francesca Maltecca, Mayank Verma, Berge A. Minassian, Frances M. Platt, Débora Farina Gonçalves, Hélène Puccio, Andreas Roos, Matthis Synofzik   +10 more
wiley   +1 more source

Nystagmus in pediatric patients: interventions and patient-focused perspectives

Clinical Ophthalmology, 2015
Nystagmus refers to involuntary, typically conjugate, often rhythmic oscillations of the eyes. The most common cause of nystagmus in children is infantile nystagmus syndrome (INS).
Kimberly Penix, M. Swanson, D. DeCarlo
semanticscholar   +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

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

VertiGo – a pilot project in nystagmus detection via webcam

Current Directions in Biomedical Engineering, 2020
Dizziness is one of the most common symptoms in medicine. For differentiation of peripheral or central origin of the vertigo, history and clinical examination with detection of a nystagmus is essential.
Reinhardt Sophia, Schmidt Joshua, Leuschel Michael, Schüle Christiane, Schipper Jörg   +4 more
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  

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

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