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Stewardship or Punishment? Ethical Analysis of Transplant Candidacy for a Child from a Low-Resourced Family.
Am J Bioeth
February 2025
Children's Health, Dallas Texas for Dawn Children's Minnesota for Ian.
Phenotypic Expansion of Knobloch Syndrome Type 2 in an Individual With a De Novo PAK2 Variant.
Am J Med Genet A
January 2025
Department of Pediatrics, University of Connecticut School of Medicine, Farmington, Connecticut, USA.
P21-activated kinase 2 (PAK2) is a serine/threonine kinase essential for a variety of cellular processes including signal transduction, cellular survival, proliferation, and migration. A recent report proposed monoallelic PAK2 variants cause Knobloch syndrome type 2 (KNO2)-a developmental disorder primarily characterized by ocular anomalies. Here, we identified a novel de novo heterozygous missense variant in PAK2, NM_002577.
View Article and Find Full Text PDFPatient Preferences in Arrhythmogenic Right Ventricular Cardiomyopathy (ARVC) Screening and ICD Implantation: Canadian ARVC Registry Substudy.
CJC Open
January 2025
Population Health Research Institute, Hamilton, Ontario, Canada.
Background: Arrhythmogenic right ventricular cardiomyopathy (ARVC) is typically diagnosed following an arrhythmic event or during screening after a family member experiences sudden cardiac death. Implantation of a defibrillator (ICD) improves survival but can be associated with morbidity and risks, an important consideration within a shared decision-making context. This study examined patient decisional needs and preferences surrounding ARVC screening and prophylactic ICD implantation.
View Article and Find Full Text PDFEvaluating the Effect of Various Pure Tone Averages on Cochlear Implant Candidacy Screening.
Laryngoscope
January 2025
Department of Otolaryngology - Head and Neck Surgery, University of Washington, Seattle, Washington, USA.
Objective: To provide evidence to use an extended frequency pure tone average to screen for cochlear implant evaluation candidates as recommended by the American Cochlear Implant Alliance. Additionally, to determine whether traditional low frequency, high or low frequency, high frequency, or extended frequency pure tone average most accurately predicts cochlear implant candidates based on speech perception scores from aided AzBio sentence testing or aided consonant-nucleus-consonant (CNC) testing.
Method: Adults from a tertiary care center who completed aided sentence testing during cochlear implant evaluation between 2014 and 2024 were assessed.
Glucagon-Like Peptide-1 Receptor Agonists in Patients With Durable Left Ventricular Assist Devices.
Artif Organs
January 2025
Division of Cardiology, Department of Medicine, Columbia University College of Physicians and Surgeons and NewYork-Presbyterian Hospital, New York, New York, USA.
Background: GLP-1 RAs improve cardiometabolic outcomes in obese, diabetic, and heart failure patients. Data on the safety and efficacy of GLP-1 RA in advanced heart failure with durable LVAD is limited.
Objectives: To assess the safety and efficacy of GLP-1 RA in durable LVAD patients.
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