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Susac's Syndrome: A Tale of Disability Due to Late Recognition.
Cureus
November 2024
Neurology, King's College Hospital, Dubai, ARE.
Susac's syndrome is a rare inflammatory microangiopathy characterized by the triad of retinopathy, encephalopathy, and hearing loss. The syndrome causes recurrent microinfarcts in these organs, which in turn manifests with repeated attacks of visual field loss, hearing loss and tinnitus, and various brain syndromes. These often lead to the significant accumulation of disability over time, particularly if there is a delay or failure in diagnosis.
View Article and Find Full Text PDFBackground And Objectives: Nonfocal transient neurologic attacks (TNA) have been suggested to increase the risk of stroke, yet the optimal clinical approach of these attacks remains uncertain. We determined whether people who have a nonfocal TNA are at an increased risk of subsequent cardiovascular disease (CVD), akin to the known increased risk of stroke following transient ischemic attack (TIA).
Methods: Within a population-based cohort study among Dutch participants aged 45 years or older, we selected participants who had first-ever TNA, defined as an attack of sudden neurologic symptoms resolving within 24 hours without clear evidence for an alternative diagnosis, during follow-up between 1990 and 2020.
Paroxysmal extreme pain disorder associated with a mutation in SCN9A gene - Case report and own experiences.
Front Neurol
December 2024
Department of Surgery, Institute of Medical Sciences, Medical College of Rzeszów University, Rzeszów, Poland.
Introduction: Pain is an unpleasant sensory and emotional experience, influenced by various factors. Paroxysmal extreme pain disorder (PEPD) is a rare genetic condition characterized by sudden bouts of pain accompanied by autonomic symptoms.
Material Methods And Aim: This manuscript presents the case of a 9-year-old boy with paroxysmal extreme pain syndrome and provides a review of the literature.
Dual Chamber Aveir Retrievable Leadless Pacemaker Implant via the Right Internal Jugular Vein in a 13-year-old With Congenital Complete Heart Block.
Pacing Clin Electrophysiol
December 2024
Pediatric Cardiology, UC Davis Medical Center, Sacramento, USA.
Introduction: Congenital complete heart block is a condition where there is a risk of Stokes Adam's attacks and sudden death may occur. Once the escape rate is too low, or other high-risk factors occur, these patients ultimately need pacemakers placed. Epicardial or transvenous pacemakers have typically been in employed dependent on size of the patient and other circumstances.
View Article and Find Full Text PDFMuch More Than a Stroke: Emery-Dreifuss Muscular Dystrophy Type 2 Revealed by Ischemic Stroke.
Cureus
November 2024
Stroke Unit, Centro Hospitalar Tondela-Viseu, Viseu, PRT.
Emery-Dreifuss muscular dystrophy type 2 (EDMD2) is a rare autosomal dominant neuromuscular disorder caused by LMNA gene mutations and characterized by progressive skeletal muscle weakness and significant cardiac involvement. We report the case of a 45-year-old woman who presented with sudden-onset, left-sided hemiparesis and dysarthria. Initial imaging was unremarkable, and symptoms transiently improved, suggesting a transient ischemic attack.
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