Results 61 to 70 of about 841,585 (286)

Early Clinical, Imaging, and Pathological Characteristics of SRPK3/TTN‐Digenic Myopathy

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective SRPK3/TTN‐digenic myopathy was recently established as a skeletal muscle myopathy caused by digenic inheritance. This study characterizes the early clinical presentation of SRPK3/TTN‐digenic myopathy in one previously reported and seven newly identified pediatric patients.
Rotem Orbach, Sandra Donkervoort, Carola Hedberg‐Oldfors, Giovanni Baranello, Dimah Saade, Precilla D'Souza, Ruchee Patel, Eva Michael, A. Reghan Foley, Diana Bharucha‐Goebel, S. Jin Haugland, Meghan McAnally, Omer Abdul Hamid, Katherine Chao, Ellen F. Macnamara, Alan H. Beggs, Anna Sarkozy, Juliane Mueller, Steven A. Moore, Richard S. Finkel, Cynthia J. Tifft, Francesco Muntoni, Anders Oldfors, Carsten G. Bönnemann   +23 more
wiley   +1 more source

Cutaneous and hepatic vascular lesions due to a recurrent somatic GJA4 mutation reveal a pathway for vascular malformation

HGG Advances, 2021
Summary: The term “cavernous hemangioma” has been used to describe vascular anomalies with histology featuring dilated vascular spaces, vessel walls consisting mainly of fibrous stromal bands lined by a layer of flattened endothelial cells, and an ...
Nelson Ugwu, Lihi Atzmony, Katharine T. Ellis, Gauri Panse, Dhanpat Jain, Christine J. Ko, Naiem Nassiri, Keith A. Choate   +7 more
doaj   +1 more source

Spatial and Volumetric Characteristics of Glioblastoma: Associations With Clinical Presentation and Survival

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective We aim to comprehensively analyze how regional tumor and edema characteristics are associated with clinical presentations and survival outcomes in a large cohort of glioblastoma patients. Methods Patients with IDH‐wildtype glioblastoma who received brain MRI from 2010 to 2023 were included.
Daniel J. Zhou, Marc Jaskir, Julian Gal, Yombe Fonkeu, Christos Davatzikos, MacLean P. Nasrallah, Jose Garcia, Rubo Xing, Stephen J. Bagley, Arati Desai, Richard E. Phillips, Steven Tobochnik, Colin A. Ellis, James J. Gugger, Nishant Sinha, Joel M. Stein, Kathryn A. Davis   +16 more
wiley   +1 more source

Pelvic Vascular Malformations [PDF]

Seminars in Interventional Radiology, 2013
Vascular malformations (VMs) comprise a wide spectrum of lesions that are classified by content and flow characteristics. These lesions, occurring in both focal and diffuse forms, can involve any organ and tissue plane and can cause significant morbidity in both children and adults.
Brian M, Christenson, Matthew G, Gipson, Mitchell T, Smith   +2 more
openaire   +2 more sources

Vascular Anomalies (Part II): Interventional Therapy of Peripheral Vascular Malformations

, 2018
Background The International Society for the Study of Vascular Anomalies (ISSVA) categorizes vascular anomalies into vascular tumors and vascular malformations.
René Müller-Wille, Walter Wohlgemuth, Maliha Sadick, Sadick, Maliha, Moritz Wildgruber, Wildgruber, Moritz, Wohlgemuth, Walter, Müller-Wille, René   +7 more
core   +1 more source

Screening Routine Clinical Notes for Epilepsy Surgery Candidates Using Large Language Models

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Epilepsy surgery is severely underutilized despite proven efficacy, with substantial under‐referral of eligible patients in routine clinical practice. This study evaluated the potential role of large language models (LLMs) as decision‐support tools for screening unstructured clinical notes to identify epilepsy surgery candidates and ...
Uriel Fennig, Nadav Amir, Maya Schiller, Roni Loebenstein, Johnatan Nissan, Marina Boxer, Shany Guly Gofrit, Gal Goshen, Sándor Beniczky, Nicola Maggio   +9 more
wiley   +1 more source

Embolization of peripheral vascular malformations with ethylene vinyl alcohol copolymer (Onyx)

, 2004
PURPOSE: To demonstrate the feasibility and preliminary efficacy of endovascular embolization of peripheral congenital vascular malformations (VMs) with use of a nonadhesive liquid embolic agent ...
Kantarci, Fatih, CANTASDEMIR, Murat, Adaletli, I, NUMAN, Füruzan, OMEROGLU, A, KARA, B, KARA, Beril   +6 more
core   +1 more source

Integrating Time‐Adjusted Imaging Instability Into Functional Outcome Prediction After Intracerebral Hemorrhage: Development and Validation of the HAGIV Score

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Early risk stratification may support clinical decision‐making in spontaneous intracerebral hemorrhage (ICH). We aimed to develop and internally validate HAGIV, a score integrating frequency of imaging markers (FIM), a time‐adjusted non‐contrast computed tomography (CT) metric of hematoma expansion, with established predictors for 90‐
Lei Song, Ren Ke, Anqi Chen, Yufei Fu, Hang Zhou, Rujia Wang, Liwei Zou, Yongqiang Yu, Ming Yuan, Xiaoming Qiu, Mengzhou Xue   +10 more
wiley   +1 more source

Magnetic resonance – guided treatment of low-flow vascular malformations and the technologies to potentiate adoption

Frontiers in Medicine
Vascular malformations are congenital, non-neoplastic lesions that arise secondary to defects in angiogenesis. Vascular malformations are divided into high-flow (arteriovenous malformation) and low-flow (venous malformations and lymphatic malformations).
Christopher Ravi Bailey, Daniel Giraldo Herrera, Nicolas Neumeister, Clifford Rabbe Weiss   +3 more
doaj   +1 more source

Comparing Characteristics and Treatment of Brain Vascular Malformations in Children and Adults with HHT [PDF]

, 2023
Hereditary hemorrhagic telangiectasia (HHT) is a rare autosomal dominant disease characterized by the development of vascular malformations (VMs) in organs such as the brain and lungs, as well as telangiectases on mucosal surfaces. Prophylactic treatment
Andrew J. White, White, Andrew J., Helen Kim, Timo Krings, Michael T. Lawton, Jamie McDonald, Faughnan, Marie E, Gossage, James R., Lawton, Michael T., Alexandra Kilian, Latino, Giuseppe A., Felix Ratjen, James R. Gossage, The Brain Vascular Malformation Consortium HHT Investigator Group The Brain Vascular Malformation Consortium HHT Investigator Group, Latino, Giuseppe A, Lawton, Michael T, Kim, Helen, McDonald, Jamie, Whitehead, Kevin J., Gossage, James R, Kevin J. Whitehead, Whitehead, Kevin J, Krings, Timo, The Brain Vascular Malformation Consortium Hht Investigator Group,, Kilian, Alexandra, White, Andrew J, Giuseppe A. Latino, Faughnan, Marie E., Ratjen, Felix, Marie E. Faughnan, Group, The Brain Vascular Malformation Consortium HHT Investigator   +30 more
core   +1 more source