Results 61 to 70 of about 588,958 (162)

Real‐world‐data for phenotypes and genotypes of rare monogenic genetic epilepsies and genes of uncertain significance for epilepsy

Epilepsia Open, Volume 11, Issue 4, Page 1184-1199, August 2026.
Abstract Objectives The objectives of this study were to develop a real‐world‐data (RWD) database for patients with epilepsy to provide further real‐world‐evidence (RWE) for monogenic genetic epilepsies; to assess the usefulness of a diagnostic algorithm in epilepsy; and to examine protein 3D structures using in silico tools to predict variant ...
Haley Morris, Elizabeth Mathew, Shalini Bahl, Marta Villa‐Lopez, Saadet Mercimek‐Andrews   +4 more
wiley   +1 more source

Hemoptysis from an Unusual Pulmonary Arteriovenous Malformation

, 2003
We report the case of a 64-year-old woman who presented with massive hemoptysis. She was found to be bleeding from a pulmonary arteriovenous malformation in the right middle lobe, which had a peculiar blood supply from the right internal mammary artery ...
Yim, APC, Lee, TW, Thung, KH, Wong, R, Sihoe, ADL, Wan, IYP   +5 more
core   +1 more source

Abernethy malformation: Our experience from a tertiary cardiac care center and review of literature

Annals of Pediatric Cardiology, 2019
Abernethy malformation, also called as congenital extrahepatic portosystemic venous shunt, is a rare anomaly involving the portal venous system. Although rare, it is increasingly being reported and is important to diagnose given the adverse clinical ...
Sushil Azad, Adhi Arya, Radhakrishnan Sitaraman, Amit Garg   +3 more
doaj   +1 more source

Declarations: management of a pulmonary arteriovenous fistulae by uniportal video‐assisted thoracoscopic surgery: a case report

BMC Surgery, 2021
Background A pulmonary arteriovenous fistula (PAVF) is a rare condition that is associated with pulmonary arteriovenous malformation (PAVM). Few reports have described managing PAVMs using uniportal video-assisted thoracoscopic surgery (VATS).
R. Li, Y. Zhou, S. Kang, F. Kong, L. Guan, Y. Zhao, X. Yin   +6 more
doaj   +1 more source

Safety Profile of Sclerosing Agents in the Management of Low‐Flow Vascular Malformations of the Head and Neck—A Systematic Review

Head &Neck, Volume 48, Issue 8, Page 2290-2305, August 2026.
ABSTRACT Background Low‐flow vascular malformations (LFVMs) of the head and neck, including venous and lymphatic malformations, represent a heterogeneous group of congenital anomalies frequently requiring intervention due to functional and esthetic impairment.
Riccardo Nocini, Carlotta Muneretto, Athena E. Arsie, Valerio Arietti, Benedetta Lorenzon, Alessandra Cinotti, Giacomo Colletti   +6 more
wiley   +1 more source

Imaging Diagnosis of Neonatal Umbilical Arteriovenous Malformation Complicated with Portosystemic Shunt [PDF]

Advanced Ultrasound in Diagnosis and Therapy
In the last twenty years, there were less than 10 cases of umbilical arteriovenous malformations have been reported, which usually had single complication, included mild cardiac dilatation, pulmonary hypertension, hemorrhagic shock, and hepatic damage ...
Zhang Minyu, Jia Baocheng, Huang Liuming
doaj   +1 more source

Incidental Diagnosis of Hereditary Hemorrhagic Telangiectasia Following Perioperative Hypoxemia in a 4‐Year‐Old Child

Respirology Case Reports, Volume 14, Issue 8, August 2026.
We present a case of a 4‐year‐old girl with no prior respiratory history who developed refractory intraoperative hypoxemia during elective dental surgery under general anaesthesia. Postoperative contrast‐enhanced chest computed tomography identified a 2.01‐cm pulmonary arteriovenous malformation (PAVM) in the right lung, and subsequent molecular ...
Chun‐Chen Sun, Chen‐Hsiu Chen
wiley   +1 more source

MiR‐375 in CAFs‐Derived EVs Promotes HCC Progression via Regulating RASA1 and May Potentially Serve as a Biomarker for HCC

Cancer Science, Volume 117, Issue 8, Page 2208-2220, August 2026.
CAFs could transfer EVs miR‐375 into endothelial cells with a low level of RASA1 and further promote EC angiogenesis. Plasma EVs miR‐375 have the potential values as a novel diagnostic and prognostic biomarker for HCC. ABSTRACT Cancer‐associated fibroblasts (CAFs) in the tumor microenvironment play an important role in cancer initiation and progression
Wei Qin, Li Wang, Beiyuan Hu, Cuicui Xiao, XiaoYing Wu, Huan Tian, Songlin Peng   +6 more
wiley   +1 more source

A Proposed Clinical Diagnostic Framework for Short Telomere Syndrome

Clinical Genetics, Volume 110, Issue 2, Page 139-149, August 2026.
We propose a phenotype‐based diagnostic framework for short telomere syndrome that integrates age‐adjusted telomere length, phenotypic manifestations, and genetic findings, where available. The framework is intended to guide clinical evaluation, longitudinal surveillance, and individualized management while acknowledging limitations in current telomere
Andrew Courtwright, Richard A. King, Jennie Vagher, Cate T. Levy, Juan Gallegos F. Orozco, Luis FZ Batista, Afaf Osman, Srinivas Tantavahi, Mary Beth Scholand   +8 more
wiley   +1 more source

RAS Inhibitor RMC‐7977 Blocks Vascular Overgrowth of NRASQ61R Mutant Endothelial Cells

Journal of Cellular and Molecular Medicine, Volume 30, Issue 15, August 2026.
ABSTRACT RAS mutations occur in patients with several types of vascular anomalies, but effective treatments remain limited. To address this need, we evaluated the RAS (ON) multi‐selective inhibitor RMC‐7977 in human endothelial cells (ECs) expressing the NRASQ61R mutation found in kaposiform lymphangiomatosis (KLA).
Sara Alharbi, Svatava Merkle, Patricia Pastura, C. Griffin McDaniel, George S. Zaky, Andrew M. Waters, Timothy D. Le Cras   +6 more
wiley   +1 more source