Results 11 to 20 of about 85,096 (348)

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

Cognitive function in late‐stage HFpEF patients with tricuspid regurgitation undergoing transcatheter tricuspid valve intervention

Catheterization and Cardiovascular Interventions, Volume 100, Issue 7, Page 1323-1330, December 1, 2022., 2022
Abstract Objectives This study evaluates the impact of transcatheter tricuspid valve interventions (TTVI) on cognitive function (CF), quality of life (QOL), and exercise capacity in late‐stage heart failure with preserved ejection fraction (HFpEF) and relevant tricuspid regurgitation (TR).
Muhammed Gerçek, Anca A. Irimie, Mustafa Gerçek, Henrik Fox, Vera Fortmeier, Tanja K. Rudolph, Volker Rudolph, Kai P. Friedrichs   +7 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

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

Resolution of severe secondary mitral valve regurgitation following aortic valve replacement in infective endocarditis

SAGE Open Medical Case Reports, 2021
We present the case of a patient with infective endocarditis anesthetized for replacement of severely regurgitant aortic valve. Intraoperative transesophageal echocardiography revealed a new diagnosis of severe secondary mitral regurgitation.
Jan Oliver Friess, Thomas Bruelisauer, Samuel Hurni, Miralem Pasic, Gabor Erdoes, Balthasar Eberle   +5 more
doaj   +1 more source

Presence Of A Congenitally Bicuspid Aortic Valve Among Patients Having Combined Mitral And Aortic Valve Replacement [PDF]

, 2012
Although bicuspid aortic valve occurs in an estimated 1% of adults and mitral valve prolapse in an estimated 5% of adults, occurrence of the 2 in the same patient is infrequent.
Hamman, Baron Lloyd, Hebeler, Robert Frederick, Janning, Kaitlin Georgeanne, Ko, Jong Mi, Roberts, William Clifford, Vowels, Travis James   +5 more
core   +1 more source

Qualitative grading of aortic regurgitation: a pilot study comparing CMR 4D flow and echocardiography. [PDF]

, 2015
Over the past 10 years there has been intense research in the development of volumetric visualization of intracardiac flow by cardiac magnetic resonance (CMR).This volumetric time resolved technique called CMR 4D flow imaging has several advantages over ...
Beniest, Kirsten M, Budde, Ricardo PJ, Chelu, Raluca G, Coenen, Adriaan, Hsiao, Albert, Lubbers, Marisa M, Nieman, Koen, Ouhlous, Mohamed, Roos-Hesselink, Jolien W, Swart, Laurens E, van den Bosch, Annemien E, van den Hoven, Allard T, van Kranenburg, Matthijs, Vasanawala, Shreyas S, Wielopolski, Piotr A   +14 more
core   +4 more sources

The extremely rare case of aortic chordae tendineae strands: A case report with literature review

Clinical Case Reports, 2023
Key Clinical Message The aortic chordae tendineae strands (ACTS) is a rare complication that can induce aortic regurgitation. Reported cases of ACTS are very few, and this is the first case reported in Iran. Patients with unexplained aortic regurgitation
Nakisa Khansari, Amir Mohammad Salehi
doaj   +1 more source

Revealing unforeseen diagnostic image features with deep learning by detecting cardiovascular diseases from apical four-chamber ultrasounds [PDF]

, 2021
Background. With the rise of highly portable, wireless, and low-cost ultrasound devices and automatic ultrasound acquisition techniques, an automated interpretation method requiring only a limited set of views as input could make preliminary cardiovascular disease diagnoses more accessible.
arxiv   +1 more source

Acute Aortic Regurgitation [PDF]

Circulation, 2012
Aortic regurgitation (AR) is characterized by regurgitation of blood from the aorta to the left ventricle (LV) during diastole and is attributable to diverse congenital and acquired abnormalities of the aortic valve or the wall of the aortic root. AR can be either chronic or acute.
Charles A. Dietl, Veena Raizada, Yasmin S. Hamirani, Darlene Begay, Wyatt F. Voyles, Mel A Peralta   +5 more
openaire   +3 more sources