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| http://dx.doi.org/10.1002/hem3.35 | DOI Listing |
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Community-Sourced Reporting of Mortalities in Angelman Syndrome (1979-2022).
Am J Med Genet A
December 2024
COMBINEDBrain, Brentwood, Tennessee, USA.
Article Synopsis
- Angelman syndrome (AS) is a rare genetic disorder impacting neurodevelopment, with an estimated prevalence of 1 in 20,000, but lacks comprehensive data on life expectancy and death rates due to a lack of diagnostic codes until 2018.
- A social media initiative by AS caregivers gathered data on 220 deaths, revealing respiratory illness as the leading cause, followed by accidents and seizures, with sudden unexpected death in sleep (SUDS) also being a notable concern.
- The study found that 91% of individuals with AS have epilepsy, suggesting that some SUDS cases could relate to sudden unexpected deaths in epilepsy (SUDEP), and highlights the need for more research despite limitations
Professor Rolfe Birch: A Pioneer in Peripheral Nerve Surgery and a Mentor to Generations.
Cureus
November 2024
Peripheral Nerve Injury, Royal National Orthopaedic Hospital, London, GBR.
Professor Rolfe Birch, a founding head in the field of peripheral neurological surgery, left an enduring legacy marked by groundbreaking research, innovative surgical techniques, and unwavering dedication to patient care. From his early fascination with the nervous system to his pioneering work in brachial plexus injuries and the establishment of the UK's (if not the continent's) first peripheral nerve injury unit, Prof. Birch's contributions transformed the landscape of understanding, diagnosing, and treating peripheral nerve pathologies.
View Article and Find Full Text PDFInterventions for renal artery stenosis: Appraisal of novel physiological insights and procedural techniques to improve clinical outcome.
Catheter Cardiovasc Interv
August 2024
Heart Center, University Hospital Gent, Gent, Belgium.
Randomized clinical trials failed to show additional benefit of renal artery stenting on top of medical therapy. Instead of writing an obituary on renal artery stenting, we try to explain these disappointing results. A transstenotic pressure gradient is needed to reduce renal perfusion and to activate the renin-angiotensin-aldosterone system.
View Article and Find Full Text PDFDevelopment and Evaluation of a Multisource Approach to Extend Mortality Follow-Up for Older Adults With Advanced Cancer Enrolled in Randomized Trials.
JCO Clin Cancer Inform
April 2024
Geriatric Oncology Research Group, James P. Wilmot Cancer Institute, University of Rochester School of Medicine and Dentistry, Rochester, NY.
Purpose: Mortality data can complement primary end points from cancer clinical trials. Yet, identifying deaths after trial completion is challenging, as timely and comprehensive vital status data are unavailable in the United States. We developed and evaluated a multisource approach to capture death data after clinical trial completion.
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