Results 101 to 110 of about 3,088,271 (304)

Clinical Variability and Genotype Driven Outcomes in an International Cohort of 14 Pediatric FIG4 Patients

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background Biallelic FIG4 variants classically cause distinct conditions characterized by peripheral neuropathy (Charcot‐Marie‐Tooth disease type 4J) or skeletal dysplasia (Yunis‐Varón syndrome). However, central nervous system involvement is increasingly recognized. The prevalence and specific characteristics of movement disorders within FIG4‐
Andrea Gangfuß, Vykuntaraju K. Gowda, Daniel Natera‐de Benito, Pinki Munot, Maria Vanegas, Alejandra Darling, Constanze Reutlinger, Laura Carrera‐Garcia, Gilbert Wunderlich, Heike Kölbel, Burkhard Stüve, David Muhmann, Lucía Monfort Belenguer, Diana‐Gabriela Barca, Viveka Santhosh Reddy C, Varunvenkat M. Srinivasan, Cristina Molina Anguita, Heinz Jungbluth, Hormos Salimi Dafsari, Thomas Rossor, Johann Böhm, Ulrike Schara‐Schmidt, Andreas Roos   +22 more
wiley   +1 more source

New Developments in Magnetic Resonance Imaging of Myocardial Diseases – Technical Aspects and Clinical Applications

Journal of Interdisciplinary Medicine, 2017
Cardiac magnetic resonance imaging is an evolving imaging method that can be used in cardiovascular pathology evaluation. Technological developments have increased the clinical utility of cardiac magnetic resonance in the exploration of various cardiac ...
Morariu Mirabela, Bordi Lehel, Opincariu Diana, Ratiu Alexandra Mihaela, Condrea Sebastian, Benedek Annabell, Benedek Theodora   +6 more
doaj   +1 more source

Axial Function Reflects Global Severity in Inherited Ataxias: The Upright Stability Score in Ambulatory Friedreich vs. Spinocerebellar Ataxia

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Inherited ataxias are clinically diverse neurodegenerative diseases, complicating the choice of outcome measures for trials. In spinocerebellar ataxia (SCA), regulatory concerns about the Scale for the Assessment and Rating of Ataxia (SARA) caused a shift toward functional SARA (f‐SARA), contributing to pivotal trial failure.
Christian Rummey, S. H. Subramony, David R. Lynch, Louise A. Corben, Martin B. Delatycki, Jörg B. Schulz, Kathrin Reetz, Massimo Pandolfo, Matthis Synofzik, Theresa Zesiewicz, Antoine Duquette, Matthew Burns, Martin Vyhnálek, Lucie Stovickova, Sinead M. Murphy, Petya Bogdanova‐Mihaylova, Mary Kearney, Richard Walsh, Richard H. Roxburgh, Khalaf Bushara, Marie Y. Davis, Enrico S. Bertini, Gessica Vasco, Shweta Sahni, Mohammed Faruq, Achal K. Srivastava, Bart van de Warrenburg, Elisabetta Indelicato, Sylvia Boesch, Andrew Billnitzer, Tetsuo Ashizawa, Anoopum S. Gupta, Grace Yoon, Georgios Koutsis, Chrysoula Koniari, Zofia Fleszar, Christopher M. Gomez, Andrea Martinuzzi, Gabriella Paparella, Ali G. Hamedani, Puneet Opal, Rizwan S. Akhtar, Caterina Mariotti, Henry Paulson, Peter Todd, Sharan R. Srinivasan, George Wilmot, Ludger Schöls, Susan Perlman, Jeremy D. Schmahmann, Sheng‐Han Kuo, Liana S. Rosenthal, Vikram G. Shakkottai   +52 more
wiley   +1 more source

Artificial Intelligence in Systemic Sclerosis: Clinical Applications, Challenges, and Future Directions

Arthritis Care &Research, EarlyView.
Systemic sclerosis (SSc) is a rare autoimmune disease defined by immune dysregulation, vasculopathy, and progressive fibrosis of the skin and internal organs. Despite advances in care, major complications such as interstitial lung disease (ILD) and myocardial involvement remain the leading causes of morbidity and mortality.
Cristiana Sieiro Santos, José Miguel Sequí‐Sabater, Diego Benavent   +2 more
wiley   +1 more source

A case report of right coronary artery ligation in the treatment of adult - type anomalous origin of the right coronary artery from the pulmonary artery complicated with coronary heart disease

Frontiers in Cardiovascular Medicine
Anomalous origin of the right coronary artery from the pulmonary artery (ARCAPA) is a rare congenital coronary artery malformation, with an adult incidence of approximately 0.002%.
Qiang Zhang, Hongyan Zhuo, Su Yan
doaj   +1 more source

Rheumatoid Arthritis and Coronary Artery Calcium Progression: A Case Cohort Analysis From ELSA‐Brasil

Arthritis Care &Research, EarlyView.
Objective To investigate the association between rheumatoid arthritis (RA) and coronary artery calcium (CAC) prevalence, incidence, and progression over four years in adults without prior cardiovascular disease. Methods A case‐cohort study within the Brazilian Longitudinal Study of Adult Health (ELSA‐Brasil) included 585 participants (86 patients with ...
Patrícia Fonseca Estrada, Marcos Rafael N. Cavalcante, Itamar de Souza Santos, Márcio S. Bittencourt, Vandrize Meneghini, Paulo A. Lotufo, Alessandra C. Goulart, Isabela M. Bensenor   +7 more
wiley   +1 more source

Original Research. Transluminal Contrast Attenuation Gradient Is Associated with Coronary Plaque Vulnerability — a Computed Tomography Angiography-based Study

Journal of Cardiovascular Emergencies, 2017
The aim of this study was to demonstrate that the transluminal contrast attenuation gradient (TAG), a new CT imaging-derived marker of functional significance of a coronary stenosis, is directly associated with the vulnerability degree of atheromatous ...
Orzan Marius, Hodas Roxana, Dobra Mihaela, Rat Nora, Chitu Monica, Benedek Imre   +5 more
doaj   +1 more source

Immunosuppressive Drug Use in Limited Systemic Sclerosis: An International Survey

Arthritis Care &Research, EarlyView.
Objective Current guidelines recommend immunosuppressive treatment for diffuse cutaneous systemic sclerosis but are less clear on their use in limited cutaneous systemic sclerosis (lcSSc) in the absence of internal organ complications. We conducted an international survey to understand current immunosuppressive drug prescribing patterns in lcSSc ...
Sabrina Hoa, Yicheng Mu, Marie Hudson, Janet Pope   +3 more
wiley   +1 more source

Clinical update. Computed Tomography — an Emerging Tool for Triple Rule-Out in the Emergency Department. A Review

Journal of Cardiovascular Emergencies, 2017
New imaging tools have been developed in recent years to rapidly and accurately diagnose life-threatening diseases associated with high mortality rates, such as acute coronary syndromes, acute aortic dissection, or pulmonary embolism.
Dobra Mihaela, Bordi Lehel, Nyulas Tiberiu, Stănescu Alexandra, Morariu Mirabela, Condrea Sebastian, Benedek Theodora   +6 more
doaj   +1 more source

Moving Domain Computational Fluid Dynamics to Interface with an Embryonic Model of Cardiac Morphogenesis [PDF]

, 2013
Peristaltic contraction of the embryonic heart tube produces time- and spatial-varying wall shear stress (WSS) and pressure gradients (∇P) across the atrioventricular (AV) canal.
Marsden, Alison L., Alison L. Marsden (449920), Marsden, Alison L, Cao, Hung, Kung Ethan, Ching-Ling Lien (19909), Lee, J, Hsiai, TK, Yury Miller, Ching-Ling Lien, Kung, Ethan, Hsiai, Tzung K, Mahdi Esmaily Moghadam, Beebe, Tyler, Hsiai Tzung K., Ethan Kung, Chi, Neil C., Lien, CL, Roman, BL, Roman, Beth L, Tyler Beebe, Xu, Xiaolei, Juhyun Lee, Chi Neil C., Chi, NC, Tzung K Hsiai, Marsden, AL, Roman, Beth L., Moghadam, Esmaily, Marsden Alison L., Chi, Neil C, Lien, Ching-Ling, Hung Cao, Hsiai, Tzung K., Miller Yury, Neil C. Chi (449919), Cao Hung, Roman Beth L., Moghadam Mahdi Esmaily, Beebe, T, Miller, Yury, Lee Juhyun, Beth L. Roman (138860), Cao, H, Juhyun Lee (449913), Moghadam, Mahdi Esmaily, Yury Miller (449918), Lien Ching-Ling, Tyler Beebe (449917), Hung Cao (449916), Beth L Roman, Ethan Kung (449915), Mahdi Esmaily Moghadam (449914), Beebe Tyler, Moghadam, ME, Neil C Chi, Lee, Juhyun, Alison L Marsden, Kung, E, Miller, Y, Tzung K. Hsiai (449921)   +60 more
core   +2 more sources