Results 121 to 130 of about 650,887 (390)

Ocular Findings as the Most Striking Manifestation of a SMAD3 Variant

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Loeys‐Dietz syndrome (LDS) is a heritable connective tissue disorder with variable expressivity. It is a multisystemic condition mainly characterized by a propensity for arterial aneurysms and dissections, skeletal manifestations, hypertelorism, bifid uvula, craniosynostosis, and cutaneous features.
Noémie Villeneuve‐Cloutier, Christie A Boswell‐Patterson, Lucas Bronicki, Krista M. Vincent, Kalin Wilk, Andrea C. Yu, Gail E. Graham, Julie Richer   +7 more
wiley   +1 more source

Beyond the virtual intracranial stenting challenge 2007: non-Newtonian and flow pulsatility effects [PDF]

, 2010
The attached article is a post print version of the final published version which may be accessed at the link below. Crown Copyright (c) 2010 Published by Elsevier Ltd.
Atherton, MA, Barozzi, G, Cavazzuti, M, Collins, MW   +3 more
core   +1 more source

Thresholds for Abdominal Aortic Aneurysm Repair in England and the United States.

New England Journal of Medicine, 2016
BACKGROUND Thresholds for repair of abdominal aortic aneurysms vary considerably among countries. METHODS We examined differences between England and the United States in the frequency of aneurysm repair, the mean aneurysm diameter at the time of the ...
A. Karthikesalingam, A. Vidal‐Diez, P. Holt, I. Loftus, M. Schermerhorn, P. Soden, B. Landon, Matthew J. Thompson   +7 more
semanticscholar   +1 more source

An International ASXL3 Natural History Study: Deep Phenotypic Analyses Including Detailed Reports of a Milder Phenotype, Novel Associations, and Clinical Recommendations

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Natural History Studies can help inform clinician and caregiver expectations, form the basis of management guidelines, and provide a comparator for therapeutic intervention. In rare conditions, where collection of prospective longitudinal data is untimely and impractical, quasi‐natural history data—from multiple individuals of different ages ...
E. Woods, N. Holmes, A. S. Denommé‐Pichon, M. Vincent, N. Belova, C. Gooch, B. Isidor, C. W. Ockeloen, E. Pavlidou, H. Stewart, V. J. M. Verhoeven, A. Ververi, A. Dixit, A. Sarkar, R. Legg, E. Reid, M. Balasubramanian   +16 more
wiley   +1 more source

Tratamento endovascular de pseudoaneurisma de aorta torácica com fístula aorto-brônquica em pós-operatório tardio de cirurgia de correção de coarctação de aorta Endovascular treatment of thoracic aortic pseudoaneurysm with aortobronchial fistula in the late postoperative period of surgical correction of the aortic coarctation

Jornal Vascular Brasileiro, 2011
Fístula aorto-brônquica é uma conexão entre a aorta e o brônquio, e mesmo quando imediatamente reconhecida e tratada possui alto risco de letalidade. Pode se desenvolver após cirurgias de aorta, e é geralmente uma consequência de pseudoaneurisma.
Ana Augusta Gayoso Neves, Alexandre Gayoso Neves Maia de Oliveira, Roberto Teodoro Beck, Ricardo Virginio dos Santos, Francisco Carlos Padilha Moreira, Alexandre Campos Moraes Amato   +5 more
doaj   +1 more source

Stent-assisted reconstructive endovascular repair of intracranial aneurysms: long-term clinical and angiographic follow-up [PDF]

, 2012
Background and Purpose: The development of self-expanding stents dedicated to intracranial use has significantly widened the applicability of endovascular therapy to many intracranial aneurysms.
VANNUCCI, STEFANO
core  

Targeting interleukin-1β protects from aortic aneurysms induced by disrupted transforming growth factor β signaling [PDF]

, 2017
Aortic aneurysms are life-threatening conditions with effective treatments mainly limited to emergency surgery or trans-arterial endovascular stent grafts, thus calling for the identification of specific molecular targets.
Bizzotto, Dario, Braghetta, Paola, Bressan, Giorgio M., Carnevale, Daniela, Carnevale, Lorenzo, Carnevale, Raimondo, Casaburo, Manuel, Cifelli, Giuseppe, DA ROS, Francesco, Fardella, Stefania, Iacobucci, Roberta, Lembo, Giuseppe, Perrotta, Marialuisa, Vinciguerra, Iolanda   +13 more
core   +1 more source

Management of Cardiovascular Health Issues in Turner Syndrome: Expert Insights and Expanded Recommendations From the 2024 Guideline Development Team

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Turner syndrome (TS) is frequently complicated by congenital heart disease (CHD). While left‐sided lesions such as bicuspid aortic valve (BAV) and coarctation of the aorta are the most common structural heart lesions in TS, other anomalies, such as aortic arch malformations, hypoplastic left heart syndrome (HLHS), persistent left superior vena
Katya de Groote, Sheetal R. Patel, Kristian Havmand Mortensen, Isabel Witvrouwen, Anthonie Duijnhouwer, Nicole M. Brown, Jasmine Grewal, Kathryn C. Chatfield, Aaron T. Dorfman, Siddharth K. Prakash   +9 more
wiley   +1 more source

Plasma Soluble Human Elastin Fragments as an Intra-Aneurysmal Localized Biomarker for Ruptured Intracranial Aneurysm [PDF]

, 2018
Background—Fragmentation of the tunica media is a hallmark of intracranial aneurysm formation, often leading to aneurysmal progression and subsequent rupture.
Allan, Lauren, Hasan, David M., Hudson, Joseph, Ishii, Daizo, Jabbour, Pascal, Nakagawa, Daichi, Ortega-Gutierrez, Santiago, Samaniego, Edgar A., Teferi, Nahom, Zanaty, Mario   +9 more
core   +1 more source

Aneurysm Syndromes Caused by Mutations in the TGF-β Receptor

, 2006
Background The Loeys–Dietz syndrome is a recently described autosomal dominant aortic-aneurysm syndrome with widespread systemic involvement. The disease is characterized by the triad of arterial tortuosity and aneurysms, hypertelorism, and bifid uvula ...
B. Loeys, U. Schwarze, Tammy M. Holm, B. Callewaert, G. Thomas, H. Pannu, J. De Backer, Gretchen L. Oswald, S. Symoens, S. Manouvrier, A. Roberts, F. Faravelli, M. Greco, R. Pyeritz, D. Milewicz, P. Coucke, D. Cameron, A. Braverman, P. Byers, A. De Paepe, H. Dietz   +20 more
semanticscholar   +1 more source