Results 101 to 110 of about 108,719 (194)
Gaze-evoked and rebound nystagmus
When trying to distinguish pathologic gaze-evoked nystagmus from physiologic end point nystagmus, the following features (pathologic gaze-evoked nystagmus (GEN) is seen in this patient with cerebellar hypoplasia) should be sought: 1) GEN persists over ...
Daniel R. Gold, DO
core
, 2009 Nystagmus is a type of eye movement characterized by alternating smooth pursuit in one direction and saccadic movement in the other direction. Nystagmus may be physiologic when occurring normally and serving its normal function or pathologic when ...
G. Di Benedetto +4 more
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Localization of Downbeat Nystagmus
, 2022 Spontaneous downbeat nystagmus (DBN) is typically present in the primary position with a downward fast-phase and slow upward drift. There are at least three different proposed mechanisms for DBN: vertical semicircular canal asymmetric impairments, up ...
Elizabeth Fracica; Kemar Green
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Necrotic adrenal myelolipoma in a geriatric dog
Veterinary Record Case Reports, Volume 14, Issue 4, November 2026.Abstract Adrenal myelolipomas are rare in dogs and usually incidental findings. They appear as hyperechoic, heterogeneous masses on ultrasound and fat‑dominant lesions on computed tomography (CT). An 11‑year‑old Spaniel cross presented with a 2‑day history of diarrhoea, vomiting and polyuria/polydipsia.
Heather Durkin, Sophie Aspinall
wiley +1 more source
Journal Club Update: Nystagmus and Saccadic Intrusions
, 2014 Nystagmus is common, with a prevalence of approximately 24 per 10,000 in the general population. Because of the associated visual symptoms and negative impact on quality of life, many patients with nystagmus request treatment.
Matthew Thurtell, Mbbs, fRaCP
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Defining Features of Gabriele‐de Vries Syndrome in Adults: A Case Report and Literature Review
American Journal of Medical Genetics Part A, Volume 200, Issue 10, Page 2396-2404, October 2026.ABSTRACT Gabriele‐de Vries syndrome (GADEVS) is a neurodevelopmental disorder caused by heterozygous pathogenic variants in the YY1 gene. Like most rare genetic syndromes, the adult manifestations of GADEVS remain poorly defined. Here, we describe the oldest patient reported to date with GADEVS—a 63‐year‐old woman with a c.1177_1179del YY1 variant ...
Ethan W. Hollingsworth, Changrui Xiao
wiley +1 more source
Nystagmus in pediatric patients: interventions and patient-focused perspectives
, 2015 Kimberly Penix,1 Mark W Swanson,1 Dawn K DeCarlo1,2 1School of Optometry, 2Department of Ophthalmology, School of Medicine, University of Alabama at Birmingham, Birmingham, AL, USA Abstract: Nystagmus refers to involuntary, typically conjugate, often ...
Swanson MW, Penix K, DeCarlo DK
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Streamlining Diagnosis of Bardet–Biedl Syndrome: New Diagnostic Algorithm With Updated Criteria
American Journal of Medical Genetics Part A, Volume 200, Issue 10, Page 2181-2198, October 2026.ABSTRACT Considerable advances have been made in our understanding of Bardet–Biedl syndrome (BBS), particularly in its core clinical features and molecular genetics, warranting an update to the existing diagnostic criteria framework. Using a rigorous, evidence‐based, and consensus‐driven process, a multidisciplinary group of international experts and ...
Jeremy J. Pomeroy +16 more
wiley +1 more source
This is a 50-yo-man who presented for dizziness and imbalance. His exam demonstrated choppy smooth pursuit and VOR suppression as well as mild gait ataxia.
Daniel R. Gold, DO
core
American Journal of Medical Genetics Part A, Volume 200, Issue 10, Page 2350-2356, October 2026.ABSTRACT U2 small nuclear RNA auxiliary factor 2 (U2AF2) is an essential pre‐mRNA splicing factor involved in the early stages of pre‐mRNA splicing. To date, multiple individuals have been reported with predominantly heterozygous missense variants presenting intellectual disability, speech and motor delays, seizures, hypotonia, and thin or hypoplastic ...
Amanda Toledo +3 more
wiley +1 more source