Results 11 to 20 of about 1,834 (145)
A Novel Constitutional TUBB Variant Associated With Familial Malformations of Cortical Development
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Most pathogenic tubulin variants arise de novo in sporadic patients, causing severe brain malformations and significant neurodevelopmental impairment. The resulting reproductive disadvantage typically prevents these mutations from being transmitted to offspring.
Elena Cellini +9 more
wiley +1 more source
American Journal of Ophthalmology Case ReportsPurpose: Friedreich ataxia (FDRA) is a debilitating neurodegenerative disease that can have ophthalmological manifestations including visual dysfunction, nystagmus, and optic atrophy.
Araliya N. Gunawardene +6 more
doaj +1 more source
Chiari I Malformation: Review and Update of Current Treatment Options
Clinical Anatomy, EarlyView.ABSTRACT The pathophysiology of Chiari malformation type I (CM‐I) is complex, involving structural abnormalities at the craniovertebral junction that result in herniation of the cerebellar tonsils through the foramen magnum. In this study, we aim to present and evaluate current treatment options for CM‐I, with a focus on evidence‐based clinical ...
Jordan J. Lo +11 more
wiley +1 more source
Opsoclonus in Pediatric Patients: Differential Diagnosis and a Practical Approach to Evaluation
Annals of the Child Neurology Society, EarlyView.ABSTRACT Opsoclonus is an ocular dyskinesia characterized by involuntary, arrhythmic, multidirectional saccades. In pediatrics, opsoclonus is most commonly attributed to the rare neuroinflammatory disorder opsoclonus‐myoclonus‐ataxia syndrome (OMAS), typically considered a paraneoplastic syndrome associated with neural crest tumors. However, opsoclonus
Aubrey C. Reed +5 more
wiley +1 more source
Prevalence and Characteristics of Physiological Gaze-Evoked and Rebound Nystagmus: Implications for Testing Their Pathological Counterparts [PDF]
Frontiers in Neurology, 2020 Objective: Cerebellar diseases frequently affect the ocular motor neural velocity-to-position integrator by increasing its leakiness and thereby causing gaze-evoked nystagmus (GEN) and rebound nystagmus (RN). Minor leakiness is physiological and occasionally causes GEN in healthy humans.
Michelle Sari Ritter +14 more
openaire +4 more sources
Reflex seizures and epilepsy surgery: A network approach case‐based exploration
Epileptic Disorders, EarlyView.Abstract Context Reflex seizures (RS) are defined by their consistent provocation by specific stimuli, encompassing a broad range from elementary sensory inputs to complex cognitive tasks. While RS are often encountered in clinical practice, their surgical management remains sparsely reported and poorly systematized.
Olivier Aron +6 more
wiley +1 more source
Equine Veterinary Journal, EarlyView.Abstract Background CEPEF4 provides the most comprehensive contemporary dataset on perianaesthetic risk in horses. Intraoperative complications, monitoring and American Society of Anesthesiologists (ASA)‐stratified associations with death remain incompletely described.
J. I. Redondo +5 more
wiley +1 more source
Equine Veterinary Journal, EarlyView.Abstract Background Defining the reliability of oscillometry (NIBP) for measuring mean arterial pressure (MAP) during normotension and hypovolaemic hypotension could help with cardiovascular monitoring and management in horses anaesthetised in dorsal recumbency.
Colleen Hickey +6 more
wiley +1 more source
The Effect of Weighted Contact Lens on Physiological Nystagmus in Young Healthy Subjects
Auditory and Vestibular Research, 2023 Background and Aim: Contact lenses correct the visual functioning of patients with low vision due to congenital nystagmus. This research presents a new method to reduce nystagmus using contact lenses in healthy subjects. Methods: Thirty-three normal people (13 women, 20 men) aged 18 to 25 with an average age of 23.3 years participated in this study.
Majid Ashrafi +2 more
openaire +1 more source
Movement Disorders Clinical Practice, EarlyView.Abstract Background Childhood‐onset hyperkinetic movement disorders occur in a range of genetic conditions. Recently, there has been an increase in recognition of hyperkinetic movement disorders, mainly dystonia, chorea and dyskinesia, with monogenic conditions associated with neurodevelopmental delay (NDD) and also with developmental and epileptic ...
Hugo Morales‐Briceño +6 more
wiley +1 more source