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Laurie Soulat-Dufour Karima Addetia Tatsuya Miyoshi Rodolfo Citro Masao Daimon Pedro Gutierrez Fajardo Ravi R. Kasliwal James N. Kirkpatrick Mark J. Monaghan Denisa Muraru Kofo O. Ogunyankin Seung Woo Park Ricardo E. Ronderos Anita Sadeghpour Gregory M. Scalia Masaaki Takeuchi Wendy Tsang Edwin S. Tucay Ji-won Hwang 《Journal of the American Society of Echocardiography》2021,34(3):286-300
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《Mayo Clinic proceedings. Mayo Clinic》2022,97(11):2028-2039
ObjectiveTo evaluate outcomes for athletes with a genetic heart disease (GHD) and an implantable cardioverter-defibrillator (ICD) after return-to-play (RTP) approval.Patients and MethodsWe conducted a retrospective review of athletes with GHD and an ICD who were evaluated and treated in Mayo Clinic’s Genetic Heart Rhythm Clinic between July 2000 and July 2020. Data on frequency of GHD-associated breakthrough cardiac events (BCEs), inappropriate shocks, and ICD-related complications were collected and analyzed.ResultsThere were 125 (57 [45.6%] female) GHD-positive athletes with an ICD (mean age at RTP was 19.8±11.6 years); 56 of 125 (44.8%) had long QT syndrome. Overall, 42 ventricular fibrillation–terminating ICD therapies were given to 23 athletes (18.4%) over an average follow-up of 3.6±3.5 years. Athletes with an ICD were more likely to experience a BCE during athletic follow-up (n=28 of 125, 22.4%) compared with those without an ICD (n=4 of 533, 0.8%; P<.0001). The BCE rate for athletes with ICDs was 6.3 events per 100 athlete-years of follow-up; this included 5.1 ventricular fibrillation–terminating events per 100 athlete-years compared with 0.3 BCEs per 100 patient-years for athletes without ICDs. In total, 6 (4.8%) athletes experienced at least one inappropriate shock (1.34 per 100 athlete-years) and 28 (29.6%) athletes had at least one other device-related complication (5.02 per 100 patient-years). However, none of these other complications occurred during sports.ConclusionThis 20-year single-center study provides the longest spanning retrospective review of outcomes for athletes with ICDs given RTP approval. For athletes with GHD and an ICD, no sports-associated deaths or reports of sports-related ICD damage occurred. 相似文献
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Shane A. Bobart Shahrzad Tehranian Sanjeev Sethi Mariam P. Alexander Samih H. Nasr Casal Moura Marta Julie A. Vrana Samar Said Callen D. Giesen John C. Lieske Fernando C. Fervenza An S. De Vriese 《Mayo Clinic proceedings. Mayo Clinic》2021,96(3):577-591
ObjectiveTo describe the clinical and pathological phenotype of membranous nephropathy (MN) associated with M-type-phospholipase–A2-receptor (PLA2R), thrombospondin-type-1-domain-containing-7A (THSD7A), semaphorin 3B (SEMA3B), neural-epidermal-growth-factor-like-1-protein (NELL-1), protocadherin 7 (PCDH7), exostosin 1/exostosin 2 (EXT1/EXT2) and neural cell adhesion molecule 1 (NCAM-1) as target antigens.MethodsA retrospective cohort of 270 adult patients with biopsy-proven MN diagnosed between January 2015 and April 2020 was classified as PLA2R-, THSD7A-, SEMA3B-, NELL-1–, PCDH7-, EXT1/EXT2-, NCAM-1–associated or septuple-negative MN using serologic tests, immunostaining, and/or mass spectrometry. Clinical, biochemical, pathologic, and follow-up data were systematically abstracted from the medical records, including disease activity of conditions traditionally associated with MN and occurring within 5 years of MN diagnosis.ResultsPatients with PLA2R-associated MN were predominantly middle-aged white men without associated disease. The presence of associated disease did not affect the clinical and pathologic characteristics of PLA2R-associated MN, suggesting that they were coincidental rather than causally linked. THSD7A-, NELL-1–, PCDH7-, and NCAM-1–associated MN were rare and SEMA3B-associated MN was not discovered in our cohort. EXT1/EXT2-associated MN was primarily diagnosed in younger women with active systemic autoimmunity. A significant proportion of septuple-negative patients had associated malignancy or systemic autoimmunity.ConclusionThe widely used distinction between primary and secondary MN has limitations. We propose a refined terminology that combines the target antigen and associated disease to better classify MN and guide clinical decision making. 相似文献
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《Journal of the American Society of Echocardiography》2022,35(5):469-476
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