Results 211 to 220 of about 201,410 (354)

Genetic predisposition to porto‐sinusoidal vascular disorder: A functional genomic‐based, multigenerational family study

Hepatology, EarlyView., 2022
A deleterious variant of FCHSD1 results in mTOR pathway overactivation and may cause porto‐sinusoidal vascular disorder (PSVD). The pedigree of the family demonstrated an autosomal dominant disease with variable expressivity. Whole‐genome sequencing and Sanger sequencing both validated the existence of the FCHSD1 variant and the heterozygosity of c ...
Jingxuan Shan, André Megarbane, Aziz Chouchane, Deepak Karthik, Ramzi Temanni, Atilio Reyes Romero, Huiying Hua, Chun Pan, Xixi Chen, Murugan Subramanian, Chadi Saad, Hamdi Mbarek, Cybel Mehawej, Eliane Chouery, Sirin W. Abuaqel, Alexander Dömling, Sami Remadi, Cesar Yaghi, Pu Li, Lotfi Chouchane   +19 more
wiley   +1 more source

Complex Management of Thromboembolism in Double-Outlet Right Ventricle. [PDF]

JACC Case Rep
Bhargava P, Saleh A, Osula D, Clark S, Ahmed M, Cribbs M.   +5 more
europepmc   +1 more source

Transcoronary study of biomarkers in patients with heart failure: Insights into intracardiac production

ESC Heart Failure, EarlyView.
Abstract Aims Biomarkers are pivotal in the management of heart failure (HF); however, their lack of cardiac specificity could limit clinical utility. This study aimed to investigate the transcoronary changes and intracardiac production of these biomarkers.
Jie Ren, Junhan Zhao, Shengwen Yang, Shuoyan An, Chi Cai, Jing Wang, Min Gu, Hongxia Niu, Shurong Li, Wei Hua, Beiyao Gao   +10 more
wiley   +1 more source

Isolated aneurysmal disease as an underestimated finding in individuals with JAG1 pathogenic variants

Human Mutation, Volume 43, Issue 12, Page 1824-1828, December 2022., 2022
Abstract Pathogenic variants in JAG1 are known to cause Alagille syndrome (ALGS), a disorder that primarily affects the liver, lung, kidney, and skeleton. Whereas cardiac symptoms are also frequently observed in ALGS, thoracic aortic aneurysms have only been reported sporadically in postmortem autopsies.
Jotte Rodrigues Bento, Alice Krebsová, Ilse Van Gucht, Irene Valdivia Callejon, An Van Berendoncks, Pavel Votypka, Ilse Luyckx, Petra Peldova, Steven Laga, Marek Havelka, Lut Van Laer, Pavel Trunecka, Nele Boeckx, Aline Verstraeten, Milan Macek, Josephina A. N. Meester, Bart Loeys   +16 more
wiley   +1 more source

The effect of trimetazidine on cardiac haemodynamics and mitochondrial function in wild‐type transthyretin amyloidosis

ESC Heart Failure, EarlyView.
Abstract Aims Wild‐type transthyretin cardiac amyloidosis (ATTRwt) is a cardiomyopathy causing myocardial hypoperfusion and impaired cardiac mitochondrial function. Trimetazidine is an antianginal agent used in patients with stable angina pectoris, which improves cardiac contractility and mitochondrial function.
Bertil Thyrsted Ladefoged, Anders Lehmann Dahl Pedersen, Anne Mette Dybro, Tor Skibsted Clemmensen, Julian Gillmore, Steen Hvitfeldt Poulsen   +5 more
wiley   +1 more source

Pulmonary Vein Balloon Angioplasty and Stenting for Left Superior and Inferior Pulmonary Vein Stenosis/Occlusion After Radiofrequency Ablation for Paroxysmal Atrial Fibrillation. [PDF]

Clin Case Rep
Pan W, Qian J, Lu L, Xu H, Fan J.
europepmc   +1 more source

Pro‐adrenomedullin as an independent predictive biomarker for heart failure in atrial fibrillation and flutter

ESC Heart Failure, EarlyView.
Abstract Aims This study aimed to investigate potential biomarkers for predicting incident heart failure (HF) in patients with atrial fibrillation and flutter (AF and AFL), utilizing proteomic data from the UK Biobank Pharma Proteomics Project (UKB‐PPP).
Gaifeng Hu, Xiaodong Peng, Liu He, Yiwei Lai, Nian Liu, Xin Li, Caihua Sang, Jianzeng Dong, Changsheng Ma   +8 more
wiley   +1 more source

Charting the landscape of the environmental exposome

iMeta, Volume 1, Issue 4, December 2022., 2022
We describe the biological and chemical components of the environmental exposomes in three major environmental matrices that are highly relevant to human and social‐economical health—air, soil, and water. We discuss how different exposome components can interact with each other. Finally, we propose a list of outstanding challenges to be tackled to push
Xin Wei, Zinuo Huang, Liuyiqi Jiang, Yueer Li, Xinyue Zhang, Yuxin Leng, Chao Jiang   +6 more
wiley   +1 more source

Alterations in ECG and Right Heart Catheterization Data in PAH Patients Who Died From Sudden Death Compared With Right Heart Failure. [PDF]

Pulm Circ
Flemington AB, Annis J, Brittain EL, Hemnes AR.   +3 more
europepmc   +1 more source

Oral Pulmonary Arterial Hypertension-Targeted Therapy in Patients With Pulmonary Hypertension due to Interstitial Lung Disease. [PDF]

J Clin Med Res
Selvan KC, Teerapuncharoen K, Bag R.
europepmc   +1 more source