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http://dx.doi.org/10.1016/j.regg.2013.11.003 | DOI Listing |
Neurology
January 2025
The Dubowitz Neuromuscular Centre, Developmental Neurosciences Department, University College London, Great Ormond Street Institute of Child Health, United Kingdom.
Background And Objectives: Safety and efficacy of IV onasemnogene abeparvovec has been demonstrated for patients with spinal muscular atrophy (SMA) weighing <8.5 kg. SMART was the first clinical trial to evaluate onasemnogene abeparvovec for participants weighing 8.
View Article and Find Full Text PDFHeart Fail Rev
January 2025
Department of Cardiology, Cardiology I, University Medical Center Mainz, Langenbeckstrasse 1, 55131, Mainz, Germany.
Heart failure is a prevalent global health issue. Heart failure with preserved ejection fraction (HFpEF), which already represents half of all heart cases worldwide, is projected to further increase, driven by aging populations and rising cardiovascular risk factors. Effective therapies for HFpEF remain limited, particularly due to its pathophysiological heterogeneity and incomplete understanding of underlying pathomechanisms and implications.
View Article and Find Full Text PDFEgypt Heart J
January 2025
Department of Cardiology, Lianyungang No 1 People's Hospital, No. 6 East Zhenhua Road, Haizhou District, Lianyungang, 222061, Jiangsu, China.
Background: The rate at which atrial fibrillation (AF) patients experience a return of symptoms after catheter ablation is significant, and there are multiple risk factors involved. This research intends to perform a meta-analysis to explore the risk factors connected to the recurrence of AF in patients following catheter ablation.
Methods: The PubMed, Cochrane Library, WOS, Embase, SinoMed, CNKI, Wanfang, and VIP databases were explored for studies from January 1, 2000 to August 10, 2021, and research meeting the established inclusion requirements was chosen.
J Pediatr Endocrinol Metab
January 2025
Department of Medical Genetics, Demiroglu Bilim University Faculty of Medicine, Istanbul, Türkiye.
Objectives: HSD3B7 deficiency is a genetic disorder caused by mutations in the gene, leading to impaired bile acid synthesis and the accumulation of toxic intermediates. Affected patients typically present with cholestatic liver disease, including jaundice and progressive liver dysfunction.
Case Presentation: This case series describes three pediatric patients from two families diagnosed with HSD3B7 deficiency, each demonstrating varying clinical severity and outcomes.
Heart Rhythm O2
December 2024
Department of Electrophysiology, North Mississippi Medical Center, Tupelo, Mississippi.
Background: Historically, percutaneous transcatheter left atrial appendage closure (LAAC) has been performed under general anesthesia (GA) with transesophageal echocardiographic images obtained by a noninvasive cardiologist and usually requires an overnight hospital stay. Alternatively, we present our single-center experience performing LAACs under deep sedation (DS), employing an echocardiographic technician instead of a noninvasive cardiologist, and expediting same-day discharge. Mid- to long-term outcomes were also evaluated with follow-up imaging at a 45-day visit.
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