Results 21 to 30 of about 245,053 (402)

Analysis of Turbulence Effects in a Patient-Specific Aorta with Aortic Valve Stenosis

Cardiovascular Engineering and Technology, 2021
Blood flow in the aorta is often assumed laminar, however aortic valve pathologies may induce transition to turbulence and our understanding of turbulence effects is incomplete.
E. L. Manchester, S. Pirola, M. Salmasi, D. O’Regan, T. Athanasiou, X. Y. Xu   +5 more
semanticscholar   +1 more source

Comprehensive genetic screening for vascular Ehlers–Danlos syndrome through an amplification‐based next‐generation sequencing system

American Journal of Medical Genetics Part A, Volume 191, Issue 1, Page 37-51, January 2023., 2023
Abstract Vascular Ehlers–Danlos syndrome (vEDS) is a hereditary connective tissue disorder (HCTD) characterized by arterial dissection/aneurysm/rupture, sigmoid colon rupture, or uterine rupture. Diagnosis is confirmed by detecting heterozygous variants in COL3A1.
Tomomi Yamaguchi, Shujiro Hayashi, Daisuke Hayashi, Takeshi Matsuyama, Norimichi Koitabashi, Kenichi Ogiwara, Masaaki Noda, Chiai Nakada, Shinya Fujiki, Akira Furutachi, Yasuhiko Tanabe, Michiko Yamanaka, Aki Ishikawa, Miyako Mizukami, Asako Mizuguchi, Kazumitsu Sugiura, Makoto Sumi, Hirokuni Yamazawa, Atsushi Izawa, Yuko Wada, Tomomi Fujikawa, Yuri Takiguchi, Keiko Wakui, Kyoko Takano, Shin‐Ya Nishio, Tomoki Kosho   +25 more
wiley   +1 more source

Genetic and phenotypic spectrum in the NONO‐associated syndromic disorder

American Journal of Medical Genetics Part A, Volume 191, Issue 2, Page 469-478, February 2023., 2023
Abstract The non‐POU domain‐containing octamer‐binding (NONO) protein is involved in multiple steps of gene regulation such as RNA metabolism and DNA repair. Hemizygous pathogenic variants in the NONO gene were confirmed to cause a rare X‐linked syndromic disorder. Through our in‐house diagnostics and subsequent matchmaking, we identified six unrelated
Franziska Roessler, Anita E. Beck, Ball Susie, Bartolomaeus Tobias, Amber Begtrup, Saskia Biskup, Oana Caluseriu, Norman Delanty, Christine Fröhlich, Marie T. Greally, Maike Karnstedt, Chiara Klöckner, Joanne Kurtzberg, Susanna Schubert, Martin Schulze, Michael Weidenbach, Dominik S. Westphal, Maire White, Cordula M. Wolf, Jacob Zyskind, Bernt Popp, Vincent Strehlow   +21 more
wiley   +1 more source

Maximal Aortic Valve Cusp Separation and Severity of Aortic Stenosis [PDF]

Journal of Clinical and Diagnostic Research, 2017
Introduction: An integrated approach that incorporates two dimensional, M mode and Doppler echocardiographic evaluation has become the standard means for accurate quantification of severity of valvular aortic stenosis.
K Jayaprakash, VP Dilu, Raju George
doaj   +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

Educational Case: Aortic Valve Stenosis [PDF]

Academic Pathology, 2020
The following fictional case is intended as a learning tool within the Pathology Competencies for Medical Education (PCME), a set of national standards for teaching pathology. These are divided into three basic competencies: Disease Mechanisms and Processes, Organ System Pathology, and Diagnostic Medicine and Therapeutic Pathology.
Nolan G. Schwarz, Walter L. Kemp
openaire   +3 more sources

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

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

Heritability of aortic valve stenosis and bicuspid enrichment in families with aortic valve stenosis

International Journal of Cardiology, 2022
Although a familial component of calcific aortic valve stenosis (CAVS) has been described, its heritability remains unknown. Hence, we aim to assess the heritability of CAVS and the prevalence of bicuspid aortic valve among CAVS families.Probands were recruited following aortic valve replacement (AVR) for severe CAVS on either tricuspid (TAV) or ...
Boureau, Anne-Sophie, Karakachoff, Matilde, Le Scouarnec, Solena, Capoulade, Romain, Cueff, Caroline, de Decker, Laure, Senage, Thomas, Verhoye, Jean-Philippe, Baufreton, Christophe, Roussel, Jean-Christian, Dina, Christian, Probst, Vincent, Schott, Jean-Jacques, Le Tourneau, Thierry   +13 more
openaire   +4 more sources