Results 21 to 30 of about 796,036 (401)

A model based on clinical parameters to identify myocardial late gadolinium enhancement by magnetic resonance in patients with aortic stenosis: An observational study [PDF]

, 2020
Objective With increasing age, the prevalence of aortic stenosis grows exponentially, increasing left heart pressures and potentially leading to myocardial hypertrophy, myocardial fibrosis and adverse outcomes.
Alpendurada, Francisco, Dweck, Marc, Kuk, Mariya, Newsome, Simon, Pennell, Dudley J, Prasad, Sanjay K, Vassiliou, Vassilios S   +6 more
core   +1 more source

Birth defects associated with paternal firefighting in the National Birth Defects Prevention Study

American Journal of Industrial Medicine, Volume 66, Issue 1, Page 30-40, January 2023., 2023
Abstract Background Few studies have evaluated birth defects among children of firefighters. We investigated associations between birth defects and paternal work as a firefighter compared to work in non‐firefighting and police officer occupations. Methods We analyzed 1997–2011 data from the multi‐site case‐control National Birth Defects Prevention ...
Miriam R. Siegel, Carissa M. Rocheleau, Brittany S. Hollerbach, Amel Omari, Sara A. Jahnke, Lynn M. Almli, Andrew F. Olshan, National Birth Defects Prevention Study   +7 more
wiley   +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

Early Surgery or Conservative Care for Asymptomatic Aortic Stenosis.

New England Journal of Medicine, 2020
BACKGROUND The timing and indications for surgical intervention in asymptomatic patients with severe aortic stenosis remain controversial. METHODS In a multicenter trial, we randomly assigned 145 asymptomatic patients with very severe aortic stenosis ...
D. Kang, Sung-Ji Park, Seung-Ah Lee, Sahmin Lee, Dae‐Hee Kim, Hyung‐Kwan Kim, S. Yun, G. Hong, Jong-Min Song, C. Chung, Jae-Kwan Song, Jae-Won Lee, Seung-Woo Park   +12 more
semanticscholar   +1 more source

Current Therapeutic Options in Aortic Stenosis.

Circulation Research, 2021
Aortic stenosis is the most common valvular disease requiring valve replacement. Valve replacement therapies have undergone progressive evolution since the 1960s.
Marko T. Boskovski, T. Gleason
semanticscholar   +1 more source

Effect of aortic stiffness versus stenosis on ventriculo-arterial interaction in an experimental model of coarctation repair [PDF]

, 2020
Objectives: The aim of this study was to investigate the effect of short- versus long-segment aortic stiffness and stenosis on ventriculo-arterial interaction in a porcine model of coarctation repair.
Bové, Thierry, De Somer, Filip, De Wolf, Daniël, PANZER, JOSEPH, Segers, Patrick   +4 more
core   +2 more sources

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

Awake Surgical Mitral Valve Repair after Transcatheter Aortic Valve Replacement

The Thoracic & Cardiovascular Surgeon Reports, 2021
Transcatheter aortic valve replacement has become a popular choice for cases with severe aortic stenosis. However, when severe mitral regurgitation is comorbid in high-risk patients with severe aortic stenosis, therapeutic options must be weighed for ...
Aina Hirofuji, Hirotsugu Kanda, Yuya Kitani, Hiroyuki Kamiya   +3 more
doaj   +1 more source

Prevalence and outcome of dual aortic stenosis and cardiac amyloid pathology in patients referred for transcatheter aortic valve implantation

European Heart Journal, 2020
Aims Cardiac amyloidosis is common in elderly patients with aortic stenosis (AS) referred for transcatheter aortic valve implantation (TAVI). We hypothesized that patients with dual aortic stenosis and cardiac amyloid pathology (AS-amyloid) would have ...
P. Scully, Kush P. Patel, T. Treibel, G. Thornton, R. Hughes, S. Chadalavada, M. Katsoulis, N. Hartman, M. Fontana, F. Pugliese, N. Sabharwal, J. Newton, A. Kelion, M. Ozkor, S. Kennon, M. Mullen, G. Lloyd, L. Menezes, P. Hawkins, J. Moon   +19 more
semanticscholar   +1 more source