Results 221 to 230 of about 1,893,085 (303)

Reliability and stability of cerebral palsy classification scales for individuals with STXBP1‐ and SYNGAP1‐related disorders

open access: yesDevelopmental Medicine &Child Neurology, EarlyView.
Aim To determine the interrater reliability and stability of the Gross Motor Function Classification System (GMFCS), Manual Ability Classification System (MACS)/Mini‐MACS, and Communication Function Classification System (CFCS) in individuals with STXBP1‐ and SYNGAP1‐related disorders.
Samuel R. Pierce   +6 more
wiley   +1 more source

Genetic testing in paediatric neurological disorders

open access: yesDevelopmental Medicine &Child Neurology, EarlyView.
In this study 390 paediatric patients with neurological disorders underwent genetic testing via exome sequencing, commercial panel, in‐house epilepsy, and movement disorder gene panels. Exome sequencing provides the highest diagnostic yield, and severe developmental delay and hypotonia predicted pathogenic variants in the exome sequencing cohort ...
Wafa Bani Uraba   +15 more
wiley   +1 more source

Efficacy and Safety of SGLT2 Inhibitors in Patients With Genetic Lipodystrophy: A Real‐Life Experience From a National Reference Network

open access: yesDiabetes, Obesity and Metabolism, EarlyView.
ABSTRACT Aim Lipodystrophy syndromes are rare diseases with metabolic and cardiovascular consequences. This study explores the metabolic and renal effects of sodium‐glucose cotransporter 2 inhibitors (SGLT2i) in patients with genetic lipodystrophy. Patients and Methods Patients with familial partial lipodystrophy (n = 57) or congenital generalised ...
Léna Robert   +12 more
wiley   +1 more source

Ultra-rapid outpatient treatment of patients with severe aortic stenosis presenting with acute valve syndrome: evaluation of a novel pathway for urgent TAVI. [PDF]

open access: yesOpen Heart
Vibhishanan J   +16 more
europepmc   +1 more source

TAVR vs. SAVR in Patients With Severe Aortic Stenosis and Chronic Kidney Disease Undergoing Dialysis: A Comprehensive Meta-Analysis. [PDF]

open access: yesCardiol Res Pract
Mylavarapu M   +8 more
europepmc   +1 more source

Are hospitalised acute rheumatic fever and rheumatic heart disease cases notified to the Western Australian Register in the Pilbara region? A retrospective review, 2016–2023

open access: yesInternal Medicine Journal, EarlyView.
Abstract Background Acute rheumatic fever (ARF) and rheumatic heart disease (RHD) are prevalent among First Nations peoples in Australia. In Western Australia (WA), notification of ARF and RHD to the WA RHD register is mandatory and supports follow‐up care.
Aung Du   +6 more
wiley   +1 more source

Association between delayed transcatheter aortic valve replacement beyond 6 months and clinical outcomes in severe aortic stenosis: a retrospective observational study. [PDF]

open access: yesOpen Heart
Omuro A   +15 more
europepmc   +1 more source

Catheter Ablation: Evolution and Efficiencies

open access: yesJournal of Cardiovascular Electrophysiology, EarlyView.
ABSTRACT The present review includes a discussion the goals and pitfalls of efficiency in the medical profession, a historical perspective on the evolution of catheter ablation in the field of electrophysiology (EP), and the data regarding the relationship between efficiency and outcomes in the EP lab. Focus on efficacy is critical to maximize resource
Aravind G. Kalluri, Bradley P. Knight
wiley   +1 more source

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