Results 11 to 20 of about 87,801 (334)

The molecular genetics of RASopathies: An update on novel disease genes and new disorders

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, Volume 190, Issue 4, Page 425-439, December 2022., 2022
Abstract Enhanced signaling through RAS and the mitogen‐associated protein kinase (MAPK) cascade underlies the RASopathies, a family of clinically related disorders affecting development and growth. In RASopathies, increased RAS‐MAPK signaling can result from the upregulated activity of various RAS GTPases, enhanced function of proteins positively ...
Marco Tartaglia, Yoko Aoki, Bruce D. Gelb   +2 more
wiley   +1 more source

Clinical overview on RASopathies

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, Volume 190, Issue 4, Page 414-424, December 2022., 2022
Abstract RASopathies comprise a group of clinically overlapping developmental disorders caused by genetic variations affecting components or modulators of the RAS‐MAPK signaling cascade, which lead to dysregulation of signal flow through this pathway.
Martin Zenker
wiley   +1 more source

Prevalence of congenital heart defects in Europe, 2008–2015: A registry‐based study

Birth Defects Research, Volume 114, Issue 20, Page 1404-1416, December 1, 2022., 2022
Abstract Background The total prevalence of congenital heart defects (CHDs) varies by populations and over time. Studies that examine trends in the prevalence of CHD in different regions may shed light on our understanding of the occurrence of CHD and the impact of different risk factors.
Chrysovalanto Mamasoula, Marie‐Claude Addor, Clara Cavero Carbonell, Carlos M. Dias, Luis‐Javier Echevarría‐González‐de‐Garibay, Miriam Gatt, Babak Khoshnood, Kari Klungsoyr, Kay Randall, Sylvia Stoianova, Martin Haeusler, Vera Nelen, Amanda J. Neville, Isabelle Perthus, Anna Pierini, Bénédicte Bertaut‐Nativel, Anke Rissmann, Florence Rouget, Bruno Schaub, David Tucker, Diana Wellesley, Natalya Zymak‐Zakutnia, Ingeborg Barisic, Hermien E. K. de Walle, Monica Lanzoni, Carmel Mullaney, Lindsay Pennington, Judith Rankin   +27 more
wiley   +1 more source

Transcatheter valve repair of tricuspid regurgitation with the PASCAL system: TriCLASP study 30‐day results

Catheterization and Cardiovascular Interventions, Volume 100, Issue 7, Page 1291-1299, December 1, 2022., 2022
Abstract Background Severe tricuspid regurgitation (TR) is independently associated with increased morbidity and mortality. Percutaneous transcatheter approaches may offer an alternative for patients not amenable to surgery. Methods TriCLASP is a prospective, single‐arm, multicenter European post‐market clinical follow‐up study (NCT04614402) to ...
Stephan Baldus, Niklas Schofer, Jörg Hausleiter, Kai Friedrichs, P. Lurz, Philipp Luedike, Christian Frerker, G. Nickenig, Edith Lubos, Roman Pfister, M. I. Körber, Daniel Kalbacher, Michael Näbauer, C. Besler, Amir Abbas Mahabadi, Marcel Weber, M. Zdanyte, C. B. Ren, Tobias Geisler   +18 more
wiley   +1 more source

Underweight and obesity are related to higher mortality in patients undergoing coronary angiography: The KARDIO invasive cardiology register study

Catheterization and Cardiovascular Interventions, Volume 100, Issue 7, Page 1242-1251, December 1, 2022., 2022
Abstract Background In patients with some cardiovascular disease conditions, slightly elevated body mass index (BMI) is associated with a lower mortality risk (termed “obesity paradox”). It is uncertain, however, if this obesity paradox exists in patients who have had invasive cardiology procedures.
Jari A. Laukkanen, Setor K. Kunutsor, Jussi Hernesniemi, Jaakko Immonen, Markku Eskola, Francesco Zaccardi, Matti Niemelä, Timo Mäkikallio, Magnus Hagnäs, Jarkko Piuhola, Jukka Juvonen, Jussi Sia, Juha Rummukainen, Kari Kervinen, Juha Karvanen, Kjell Nikus, KARDIO Study Group   +16 more
wiley   +1 more source

Quadrivalvular Involvement in Rheumatic Heart Disease: A Rare Case Report

Journal of the Indian Academy of Echocardiography & Cardiovascular Imaging, 2022
Four-valve involvement (mitral, aortic, tricuspid, and pulmonary) in rheumatic heart disease (RHD) is an exceedingly rare entity. We report the case of a 24-year-old male, a known case of RHD, who presented with dyspnea and presyncope for 2 months.
C M Satvic, Arnab Ghosh Chaudhury, Lachikarathman Devegowda, Prabhavathi Bhat, C N Manjunath   +4 more
doaj   +1 more source

Mixed Valvular Disease Following Transcatheter Aortic Valve Replacement: Quantification and Systematic Differentiation Using Clinical Measurements and Image-Based Patient‐Specific In Silico Modeling [PDF]

, 2020
Background: Mixed valvular disease (MVD), mitral regurgitation (MR) from pre‐existing disease in conjunction with paravalvular leak (PVL) following transcatheter aortic valve replacement (TAVR), is one of the most important stimuli for left ventricle (LV)
Amrute, Junedh M., Ben-Assa, Eyal, Blanke, Philipp, Brown, Jonathan, de la Torre Hernandez, Jose M., Edelman, Elazer R., Garcia Camarero, Tamara, Keshavarz-Motamed, Zahra, Khodaei, Seyedvahid, Lee, Suk Joon, Leipsic, Jonathon, Rikhtegar Nezami, Farhad, Ruano Calvo, Javier, Sellers, Stephanie   +13 more
core   +1 more source

Survival benefit of overweight patients undergoing MitraClip® procedure in comparison to normal‐weight patients

Clinical Cardiology, Volume 45, Issue 12, Page 1236-1245, December 2022., 2022
Long‐term survival stratified for weight classes illustrated by Hazard plot for patients treated with MitraClip® implantation stratified for weight classes. Association of weight class compared to normal‐weight with long‐term survival (adjusted for Logistic EuroScore).
Karsten Keller, Martin Geyer, Lukas Hobohm, Alexander R. Tamm, Felix Kreidel, Tobias F. Ruf, Michaela Hell, Volker H. Schmitt, Kevin Bachmann, Sonja Born, Eberhard Schulz, Thomas Münzel, Ralph S. von Bardeleben   +12 more
wiley   +1 more source

Concomitant transcatheter transfemoral double native valve replacement for severe aortic stenosis and severe mitral stenosis with mitral annular calcification

Annals of Cardiac Anaesthesia, 2023
Concomitant mitral and aortic valve stenosis in a patient with mitral annular calcification and porcelain aorta poses a unique problem to the surgical team.
Navneet Mehta, Abhinav Gupta, Ravinder S Rao, Prashant K Varshney, K Premalatha, Chetna Arora, Ajeet Bana, Hemant Chaturvedi   +7 more
doaj   +1 more source

A Novel “Over the Wire” Technique for a Case of Difficult Percutaneous Transvenousmitral Commissurotomy [PDF]

Journal of Clinical and Diagnostic Research, 2018
Percutaneous Transvenous Mitral Commissurotomy (PTMC) is the preferred treatment for isolated rheumatic valvular mitral stenosis if the valve has suitable anatomy. Following transseptal puncture, entry into left ventricle is the crucial step. This may be
Akshyaya Pradhan, Pravessh Vishwakarm, Monika Bhandari, Rishi Sethi, Varun Shankar Narain   +4 more
doaj   +1 more source