Results 101 to 110 of about 36,005 (238)

Homozygous Loss‐of‐Function Variant in SLC20A1 Coding for Ubiquitous Phosphate Transporter PiT1 Is Associated With Multiple Developmental Abnormalities

Clinical Genetics, EarlyView.
Biallelic SLC20A1 loss‐of‐function variant causes a previously unrecognized multisystem developmental disorder. We report the first homozygous case presenting with tetralogy of Fallot, renal agenesis, polydactyly, and growth impairment. Transcriptome analysis of patient‐derived fibroblasts suggests significant dysregulation of pathways critical for ...
Eugénie Koumakis, Céline Huber, Wendy Chung, Christine Leroy, Pauline Parisot, Regis Gaudin, Mohamad Zaidan, Valérie Cormier‐Daire, Gérard Friedlander, Yoel Hirsch   +9 more
wiley   +1 more source

Aortic Stenosis: The Old Disease With New (and Evolving) Faces

Journal of the American Heart Association: Cardiovascular and Cerebrovascular Disease, 2021
Calvin Woon‐Loong Chin
doaj   +1 more source

Severe Aortic Stenosis and Myocardial Function: Diagnostic and Prognostic Usefulness of Ultrasonic Integrated Backscatter Analysis [PDF]

, 2004
Background— The aim of this study was to assess the myocardial reflectivity pattern in severe aortic valve stenosis through the use of integrated backscatter (IBS) analysis.
A. DI CORI, C. NARDI, C. PALAGI, D. GIORGI, E. TALINI, F. VERUNELLI, G. ZUCCHELLI, J. GRANDJEAN, M. A. MARIANI, M. G. DELLE DONNE, M. MARIANI, P. VIACAVA, R. DELL'ANNA, ROMANO, Maria Francesca, V. DI BELLO   +14 more
core   +1 more source

A guide to the types, structures, and multifaceted functions of matrix metalloproteinases in cancer

The FEBS Journal, EarlyView.
Matrix metalloproteinases (MMPs) orchestrate cancer progression and metastasis through proteolytic and non‐proteolytic actions. By remodeling the tumor microenvironment, enhancing growth factor availability, and modulating cell behavior, MMPs promote proliferation, migration or invasion, and epithelial‐to‐mesenchymal transition. Alongside extracellular
Zoi Piperigkou, Sylvia Mangani, Spyros Kremmydas, Nikolaos E. Koletsis, Nikos K. Karamanos   +4 more
wiley   +1 more source

Clinical outcomes of patients with low-flow, low-gradient, severe aortic stenosis and either preserved or reduced ejection fraction undergoing transcatheter aortic valve implantation [PDF]

, 2017
Aims Our aim was to evaluate the invasive haemodynamic indices of high-risk symptomatic patients presenting with ‘paradoxical' low-flow, low-gradient, severe aortic stenosis (AS) (PLF-LG) and low-flow, low-gradient severe AS (LEF-LG) and to compare ...
Buellesfeld, Lutz, Heg, Dik, Hosek, Nicola, Khattab, Ahmed A., Meier, Bernhard, Moschovitis, Aris, Nietlispach, Fabian, O'Sullivan, Crochan J., Pilgrim, Thomas, Stortecky, Stefan, Wenaweser, Peter, Windecker, Stephan, Zanchin, Thomas   +12 more
core  

Left Bundle Branch Area Pacing versus Deep Septal Pacing in Patients After Transcatheter Aortic Valve Replacement

Journal of Cardiovascular Electrophysiology, EarlyView.
ABSTRACT Background Left bundle branch area pacing (LBBAP) has been reported to improve long‐term clinical outcomes in patients requiring permanent pacemaker implantation (PPMI) after transcatheter aortic valve replacement (TAVR). Deep septal pacing (DSP) has emerged as a potential alternative to LBBAP.
Liangzhen Qu, Xueting Duan, Han Chen
wiley   +1 more source

Early outcomes of aortic valve neocuspidization (the Ozaki procedure): Initial experience of a single centre

Indian Heart Journal
Introduction: Aortic valve neocuspidization (AVNeo) using fixed autologous pericardium, also known as the Ozaki technique, is an effective therapy for treating aortic valvulopathies.
Ranajit Naik, Abhishek Prabhu, Mohan Gan, Richard Saldanha   +3 more
doaj   +1 more source

Elimination of Transcoarctation Pressure Gradients Has No Impact on Left Ventricular Function or Aortic Shear Stress After Intervention in Patients With Mild Coarctation [PDF]

, 2016
Objectives: This study sought to investigate the impact of transcatheter intervention on left ventricular function and aortic hemodynamics in patients with mild coarctation of the aorta (COA).
Ben Assa, Eyal Benjamin, Bhatt, Ami B., Edelman, Elazer R, Ghoshhajra, Brian, Keshavarz Motamed, Zahra, Nakamura, Kenta, Partida, Ramon, Rikhtegar Nezami, Farhad, Staziaki, Pedro Vinícius   +8 more
core   +1 more source

Periodontal Medicine Rewired: Mechanisms Linking Periodontitis to Systemic Diseases

Journal of Periodontal Research, EarlyView.
This review reorganizes decades of research in periodontal medicine into a multi‐dimensional framework, illustrating how periodontitis influences systemic health through at least seven interconnected mechanisms. ABSTRACT Periodontitis is now recognized not merely as a localized oral condition but as a systemic disease linked to over 70 communicable and
Mario Romandini, George Hajishengallis, Mike Curtis, Giacomo Baima   +3 more
wiley   +1 more source

Statins for aortic valve stenosis

São Paulo Medical Journal
BACKGROUND: Aortic valve stenosis is the most common type of valvular heart disease in the USA and Europe. Aortic valve stenosis is considered similar to atherosclerotic disease. Some studies have evaluated statins for aortic valve stenosis. OBJECTIVES:
Luciana Thiago, Selma Rumiko Tsuji, Jonathan Nyong, Maria Eduarda dos Santos Puga, Aécio Flávio Teixeira de Góis, Cristiane Rufino Macedo, Orsine Valente, Álvaro Nagib Atallah   +7 more
doaj   +1 more source