Results 101 to 110 of about 108,556 (256)
Walsh & Hoyt: Optokinetic Nystagmus
, 2005 It is important to realize that not all nystagmus is ...
John R. Leigh, MD; Janet C. Rucker, MD
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Journal of Intellectual Disability Research, EarlyView.ABSTRACT Background Whole exome sequencing (WES) has improved diagnostic rates for neurodevelopmental disorders (NDDs) while introducing challenges in novel variant interpretation. DHX30‐related NDD (DHX30‐NDD) is a recently described condition with an evolving phenotypic spectrum.
Nattaporn Tassanakijpanich +3 more
wiley +1 more source
Elevated Nocturnal CO2 and Autonomic Dysfunction in Children With Down Syndrome
Journal of Intellectual Disability Research, EarlyView.ABSTRACT Background Sleep‐disordered breathing (SDB) frequently complicates Down syndrome (DS). Beyond upper airway obstruction, emerging evidence suggests an autonomic nervous system (ANS) dysfunction affecting CO2 regulation. The aim of this study was to investigate nocturnal gas exchanges in children with DS and compare them to what has been ...
Jessica Taytard +12 more
wiley +1 more source
CHARGE Syndrome: A Narrative Review and Update on Diagnosis, Assessment and Management
Journal of Paediatrics and Child Health, EarlyView.ABSTRACT Background CHARGE syndrome (CS) is a rare multisystemic genetic condition caused by a pathogenic variant in the DNA‐binding protein‐7 CHD7 gene. The condition affects the development of neural crest cells, which give rise to craniofacial structures, cranial nerves, ears, eyes and the heart, resulting in diverse and complex clinical features ...
Eleni M. van Gelder +7 more
wiley +1 more source
Journal of Small Animal Practice, EarlyView.Objectives To retrospectively evaluate the long‐term clinical outcomes of lateral ear canal resection performed as part of routine clinical practice for chronic otitis externa in dogs, and to re‐evaluate the practical utility of lateral ear canal resection from the perspective of contemporary treatment goals emphasising long‐term maintenance of a ...
K. Kiriki, A. Yabuzoe, K. Iyori
wiley +1 more source
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
The Neural Mechanism for Latent Nystagmus
, 2009 To elucidate the neural mechanism for unstable gaze holding in the form of latent fixation nystagmus. Latent nystagmus (LN) is the most common subtype of pathologic nystagmus observed in human and non-human primates.
Lawrence Tychsen, MD
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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
The Ups and Downs of Infantile Nystagmus Syndrome in Adulthood
, 2021 Infantile nystagmus syndrome (INS) is a common cause of abnormal eye movements during childhood. However, INS might reach adulthood unnoticed and mimic acquired forms of jerk nystagmus. We aimed to highlight the pitfalls of INS diagnosis in adulthood, by
André Jorge; Ana Inês Martins; João Lemos
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