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Response to Knoppers et al.
Genet Med
October 2019
Division of Translational Medicine and Human Genetics, University of Pennsylvania School of Medicine, Philadelphia, PA, USA.
The Pediatric Heart Network randomized trial of atenolol versus losartan in the Marfan syndrome showed no treatment differences in the rates of aortic-root growth or clinical outcomes. In this report we present treatment effects on aortic stiffness and determine whether baseline aortic stiffness predicts aortic-root growth and clinical outcomes. Echocardiograms at 0, 6, 12, 24, and 36 months from 608 subjects (6 months to 25 years) who met original Ghent criteria and had a maximum aortic-root z-score (ARz) >3 were centrally reviewed.
View Article and Find Full Text PDFA Survey of Pulmonary Arteriovenous Malformation Screening, Management, and Follow-Up in Hereditary Hemorrhagic Telangiectasia Centers of Excellence.
Cardiovasc Intervent Radiol
July 2017
Division of Interventional Radiology, Department of Radiology, Perelman School of Medicine, Hospital of the University of Pennsylvania, 1 Silverstein, 3400 Spruce Street, Philadelphia, PA, 19104, USA.
Purpose: To determine current practice regarding screening, management, and follow-up of pulmonary arteriovenous malformations (PAVMs), particularly those with feeding arteries <3 mm in diameter, in those patients with hereditary hemorrhagic telangiectasia (HHT) at HHT Centers of Excellence.
Materials And Methods: A 32-question survey focusing on PAVM screening, management, and follow-up was sent to 147 participants at HHT Centers worldwide.
Results: Thirty-three responses were received (22%); 60% from interventional radiologists and 20% from pulmonologists; 67% from the USA, 21% European, and 6% Asian.
The IGNITE network: a model for genomic medicine implementation and research.
BMC Med Genomics
January 2016
Duke Center for Applied Genomics and Precision Medicine, Duke University Medical Center, 101 Science Dr, Rm 2111, CIEMAS Bldg, Durham, NC, 27708, USA.
Background: Patients, clinicians, researchers and payers are seeking to understand the value of using genomic information (as reflected by genotyping, sequencing, family history or other data) to inform clinical decision-making. However, challenges exist to widespread clinical implementation of genomic medicine, a prerequisite for developing evidence of its real-world utility.
Methods: To address these challenges, the National Institutes of Health-funded IGNITE (Implementing GeNomics In pracTicE; www.
Response to Pyeritz et al.
Genet Med
August 2014
1] Institute of Genetic Medicine, Johns Hopkins University, Baltimore, Maryland, USA [2] Howard Hughes Institute, Chevy Chase, Maryland, USA.
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