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| http://dx.doi.org/10.1016/j.jaccao.2023.11.001 | DOI Listing |
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Safety and effectiveness of ataluren in patients with Duchenne muscular dystrophy: single-center experience from Saudi Arabia.
J Int Med Res
December 2024
Department of Pediatrics, Ministry of National Guard Health Affairs, Jeddah, Saudi Arabi.
Objective: Duchenne muscular dystrophy (DMD) is a rare X-linked neurodegenerative disorder caused by mutations in the gene. This study examined the efficacy and safety of ataluren, the first oral treatment for DMD with nonsense mutations (nmDMD), in patients in the Middle East.
Methods: This retrospective longitudinal study assessed the outcomes of seven boys with nmDMD who received treatment with ataluren and follow-up at a single center since 2016.
An Unusual Presentation of Acute Appendicitis Mimicking Sigmoid Diverticulitis: A Case Report.
Cureus
November 2024
General Surgery, Ankara Etlik City Hospital, Ankara, TUR.
Acute appendicitis typically causes right lower quadrant pain, but in elderly patients with comorbidities, it can present atypically, complicating diagnosis. This case highlights a rare presentation, mimicking sigmoid diverticulitis. A 70-year-old man with chronic heart failure, arrhythmia, and renal failure presented with two days of left lower quadrant pain.
View Article and Find Full Text PDFSupporting the continuous development and use of a patient partnership framework in European rare disease networks (ERNs): a scoping review of frameworks in the scientific literature.
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December 2024
EURORDIS - Rare Diseases Europe, Paris, France.
The European Reference Networks (ERNs) for rare and complex diseases offer significant potential for building, maintaining and evaluating patient partnership, for which the recently developed ERN Patient Partnership Framework may serve as guidance. This scoping review aims to identify and describe relevant frameworks published in scientific literature, capturing key learning points to inform future updates of the ERN Patient Partnership Framework and promote its use in practice. MEDLINE, Embase, and the Web of Science Core Collection were searched to identify recently published frameworks (2013-2023) focused on patient partnership and aligned with at least one core ERN activity.
View Article and Find Full Text PDFInternational Multicenter Cohort Study on Beta-Blocker-Free Treatment Strategies for Catecholaminergic Polymorphic Ventricular Tachycardia Patients.
JACC Clin Electrophysiol
November 2024
Department of Molecular Pharmacology & Experimental Therapeutics (Windland Smith Rice Sudden Death Genomics Laboratory), Mayo Clinic, Rochester, Minnesota, USA; Department of Pediatric and Adolescent Medicine (Division of Pediatric Cardiology), Mayo Clinic, Rochester, Minnesota, USA; Department of Cardiovascular Medicine (Division of Heart Rhythm Services, Windland Smith Rice Genetic Heart Rhythm Clinic), Mayo Clinic, Rochester, Minnesota, USA. Electronic address:
Background: Catecholaminergic polymorphic ventricular tachycardia (CPVT) is a rare, potentially life-threatening genetic heart disease. Nonselective beta-blockers (BBs) are highly effective in reducing CPVT-triggered arrhythmic events. However, some patients suffer from unacceptable BB side effects and might require strategies without a BB.
View Article and Find Full Text PDFPentaspline catheter or cryoballoon for pulmonary vein plus posterior wall isolation in persistent atrial fibrillation: 1-Year outcomes.
Heart Rhythm
December 2024
Heart Rhythm Management Centre, Postgraduate Program in Cardiac Electrophysiology and Pacing, Universitair Ziekenhuis Brussel-Vrije Universiteit Brussel, European Reference Networks Guard-Heart, Brussels, Belgium. Electronic address:
Background: Left atrial posterior wall isolation (LAPWI) plus pulmonary vein isolation (PVI) can be performed with radiofrequency ablation, cryoballoon ablation (CB-A), or, recently, pulsed field ablation (PFA).
Objective: The aims of this study were to evaluate efficacy and safety of the pentaspline PFA catheter for PVI + LAPWI in patients with persistent AF undergoing an index ablation procedure and to compare 1-year outcomes of PVI + LAPWI with PFA vs CB-A.
Methods: All consecutive patients undergoing an index ablation for persistent atrial fibrillation (AF) at Universitair Ziekenhuis Brussel, Belgium, between 2021 and 2023 were retrospectively screened.
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