Results 241 to 250 of about 30,644 (304)

Infantile‐Onset Ascending Hereditary Spastic Paraplegia due to a Homozygous ALS2 Exons 24–25 Deletion: Expanding the Genotypic Spectrum

American Journal of Medical Genetics Part A, Volume 200, Issue 4, Page 929-936, April 2026.
ABSTRACT We describe a novel homozygous intragenic deletion in the ALS2 gene in an 8‐year‐old boy with Infantile‐onset Ascending Hereditary Spastic Paraplegia (IAHSP) and oculomotor apraxia, thereby contributing to the expanding genetic landscape of ALS2‐related disorders.
Vito Luigi Colona, Maria Gnazzo, Silvia Genovese, Gessica Vasco, Lorena Travaglini, Maurizio Sabbadini, Marina Macchiaiolo, Francesco Nicita, Jacopo Sartorelli, Carmelo Piscopo, Enrico Castelli, Enrico Bertini, Andrea Bartuli, Antonio Novelli, Gessica Della Bella, Davide Vecchio   +15 more
wiley   +1 more source

Respiratory Involvement in HIST1H1E‐Related Rahman Syndrome: A Case of Severe Mixed Apnea

American Journal of Medical Genetics Part A, Volume 200, Issue 4, Page 937-946, April 2026.
ABSTRACT Rahman syndrome (HIST1H1E‐related neurodevelopmental syndrome, OMIM #617537) is a rare autosomal‐dominant condition caused by truncating variants in the C‐terminal domain of the HIST1H1E gene. It is characterized by macrocephaly, hypotonia, craniofacial anomalies, and multisystem anomalies.
Nada Barakat, Marjolaine Champagne, Mathieu Bergeron, Philippe Dodin, Nadia Roumeliotis   +4 more
wiley   +1 more source

How to deal with cardiac arrhythmia as an issue in the high performance horse [PDF]

, 2014
van Loon, Gunther
core   +1 more source

Stent Thrombosis: A Narrative Review From Pathophysiology to Therapy

Clinical Cardiology, Volume 49, Issue 4, April 2026.
Stent thrombosis remains a life‐threatening complication of PCI driven by complex interactions between stent design, procedural factors, thrombogenic milieu, and inflammation. This review integrates pathophysiological mechanisms with contemporary and emerging therapeutic strategies, highlighting optimized PCI, tailored antithrombotic therapy, and novel
Emanuele Cecchi, Andrea Grasso Granchietti, Ruggero Mazzotta, Manuel Garofalo, Giorgia Panichella, Giuseppe Iula, Francesca Maria Di Muro, Silvia Menale, Rossella Marcucci   +8 more
wiley   +1 more source

Premature ventricular complexes originating from slow pathway region following AV nodal reentrant tachycardia ablation. [PDF]

HeartRhythm Case Rep
Kocovic N, Round K, Marchenko R, Frisch DR.   +3 more
europepmc   +1 more source

A Review of Vagus Nerve Stimulation for Disease: Comprehensive Theory and Evidence for Mechanisms of Action

Comprehensive Physiology, Volume 16, Issue 2, April 2026.
Vagus nerve stimulation (VNS) effects span central and peripheral organ systems through diverse mechanistic pathways. This comprehensive review provides a unified synthesis of these mechanisms across neurological, cardiovascular, immunological, metabolic, and gastrointestinal domains, filling a critical gap and serving as a foundational resource for ...
Yifeng Bu, Alex Liang, Benjamin U. Hoffman, Dawn M. Schiehser, Oliver Case, Alan Simmons, Ruth Klaming, Andres Gottfried‐Blackmore, Ravinder K. Mittal, Christopher Puleo, Hubert Lim, Imanuel Lerman   +11 more
wiley   +1 more source

PVRI‐GoDeep—A Global Meta‐Registry at the Crossroads of Heart and Lung

Comprehensive Physiology, Volume 16, Issue 2, April 2026.
PVRI GoDeep is a global meta‐registry that harmonizes high‐quality patient‐level data from pulmonary hypertension registries worldwide. With over 45,000 enrolees already included, it enables robust phenotyping, international comparisons, and clinically relevant research across all PH subgroups beyond the scope of single‐center or national datasets ...
Meike T. Fuenderich, Athiththan Yogeswaran, Patrick Janetzko, Khodr Tello, Werner Seeger, Raphael W. Majeed, Jochen Wilhelm, GoDeep Consortium, Mauro Acquaro, Imad Al Ghouleh, James Anderson, Jeffrey S. Annis, Anastasia Anthi, Alexandra Arvanitaki, Aparna Balasubramanian, Felix Ballmann, Harm Jan Bogaard, Evan Brittain, Hugh Buzacott, Hector R. Cajigas, John Cannon, Stephen Y. Chan, Victoria Damonte, Effrosyni Dima, Philipp Douschan, Nathan Dwyer, Diego Echazarreta, Christina A. Eichstaedt, Jean Elwing, Kai Förster, Robert Frantz, Marlize Frauendorf, Stefano Ghio, Hossein‐Ardeschir Ghofrani, George Giannakoulas, Friedrich Grimminger, Ekkehard Grünig, Lars Harbaum, Paul M. Hassoun, Melanie Heberling, Anne Hilgendorff, Luke Howard, Arun Jose, Ernesto Junaeda, David G. Kiely, Ingrid King, Hans Klose, Ziad Konswa, Gabor Kovacs, Philipp Krieb, Keiichiro Kuronuma, Edmund M. Lau, Melanie Lavender, Allan Lawrie, Mona Lichtblau, Kurt Marquardt, Hiromi Matsubara, Farhan Mubashir, Horst Olschewski, Mauricio Orozco‐Levi, Karen Osborn, Joanna Pepke‐Zaba, Alba Ramirez‐Sarmiento, Stephan Rosenkranz, Hani Sabbour, Sandeep Sahay, Khaled Saleh, Laura Scelsi, Yuriy Sirenko, Siva Sivakumaran, Andrew J. Sweatt, Thenappan Thenappan, Ioan Tilea, Olena Torbas, Silvia Ulrich, Andrea Varga, Helen M. Whitford, Christoph B. Wiedenroth, Martin R. Wilkins, Paul G. Williams, Shaun Yo, Roham T. Zamanian, Zhenguo Zhai, Zhu Zhang   +83 more
wiley   +1 more source

Right ventricular false tendon-originating premature ventricular complexes triggering ventricular tachycardia: Identification and ablation. [PDF]

HeartRhythm Case Rep
Wang L, Cai C, Ju W, Chen M.
europepmc   +1 more source

Adventitial Niches, Complement and Inflammation in Pulmonary Vascular Disease: Current Status and Future Directions

Comprehensive Physiology, Volume 16, Issue 2, April 2026.
Local complement production by pulmonary artery adventitial fibroblasts, activated intracellularly by CFD and CFB and extracellularly by GZMK+ CD8 T cells, and its secretion in soluble form and within EVs promotes macrophage and T cell chemotaxis and activation.
Hui Zhang, Ram Raj Prasad, Sushil Kumar, Min Li, Dallas Jones, Cheng‐Jun Hu, Claudia Mickael, Yen‐Rei Yu, Rubin M. Tuder, Kurt R. Stenmark   +9 more
wiley   +1 more source

The Moderating Effect of Physical Activity Between IQOS Smoking and Ventricular Repolarization Parameters in Lebanese University Students

Health Science Reports, Volume 9, Issue 4, April 2026.
ABSTRACT Background Cigarette smoking is a major modifiable risk factor for cardiovascular morbidity and sudden cardiac death, in part through abnormalities in ventricular repolarization. However, little data are available on other tobacco products and alternative tobacco use delivery devices, such as heated tobacco products, as well as the modifying ...
Jean Khalil, Lucia Helou, Maria Ibrahim, Nicolas Nakhle, Mikhael Kossaify, Talal Harb, Souheil Hallit   +6 more
wiley   +1 more source