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Respiratory failure as main presentation sign of MAPT-related disorder.
J Neurol
January 2025
Centre de Génétique Humaine, Centre Hospitalier Universitaire de Besançon, Besançon, France.
Introduction: The MAPT gene encodes Tau, a protein mainly expressed by neurons. Tau protein plays an important role in cerebral microtubule polymerization and stabilization, in axonal transport and synaptic plasticity. Heterozygous pathogenic variation in MAPT are involved in a spectrum of autosomal dominant neurodegenerative diseases known as taupathies, including Alzheimer's disease, Pick's disease, fronto-temporal dementia, cortico-basal degeneration and progressive supranuclear palsy.
View Article and Find Full Text PDFSuccessful ablation of Purkinje-related ventricular ectopy leading to ventricular fibrillation in Emery-Dreifuss dilated cardiomyopathy.
J Interv Card Electrophysiol
January 2025
Cardiology Department, Hospital Universitario Virgen de Las Nieves, Granada, Spain.
Introduction: Mutations in EMD are related to an increased risk of ventricular arrhythmias and sudden cardiac death. There is a lack of data concerning ventricular arrhythmia ablation in Emery-Dreifuss patients.
Methods And Results: We present a case of successful ablation of a short-coupled ventricular ectopy (VE) triggering recurrent ventricular fibrillation (VF) episodes in a EMD patient with an intraseptal substrate.
Utility of using far-field R-wave signals in the detection of fatal ventricular arrhythmia.
J Arrhythm
February 2025
Current guidelines recommend cardioverter-defibrillator (ICD) programming, including faster detection rates, longer detection durations, and strict discrimination for supraventricular tachycardia (SVT) to prevent unnecessary ICD treatment. This delayed-style ICD programming could lead to a rise in the possibility of VF undersensing. To avoid this risk, an innovative algorithm known as VF Therapy Assurance (VFTA; Abbott, Sylmar, CA) has been developed.
View Article and Find Full Text PDFHypothetical criteria and types for cochlear migraine.
Medicine (Baltimore)
January 2025
Department of Otolaryngology-Head and Neck Surgery, Dalin Tzu Chi Hospital, Buddhist Tzu Chi Medical Foundation, Chiayi, Taiwan.
Cochlear migraine (CM) and cochleovestibular migraine were first reported in 2018. However, the diagnostic criteria and types of CM were still undefined. We proposed a hypothetical criteria for CM as below: A.
View Article and Find Full Text PDFBreakthrough Psoriasis in Patients Receiving Biologicals.
Psoriasis (Auckl)
January 2025
Department of Dermatology and Venerology, CHU of Sart Tilman, University of Liège B-4000, Liège, Belgium.
Background: Biological therapies, including TNF-alpha, IL12/23, IL17 and IL23 antagonists, adequately control a very high number of patients with moderate-to-severe psoriasis with an excellent long-term safety profile. However, on occasion, patients on biological therapy with stabilized disease or complete remission report episodes of sudden breakthrough psoriasis.
Aim: To study prospectively in a monocentric tertiary setting, the clinical characteristics of patients presenting a sudden breakthrough psoriasis although completely stabilized (PASI 90-100) under biological therapy.
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