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1.
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11 p, 1.6 MB |
The Expanding Phenotypical Spectrum of WARS2 -Related Disorder : Four Novel Cases with a Common Recurrent Variant
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Pauly, Martje G. (University Hospital Schleswig Holstein) ;
Korenke, G. Christoph (University Children's Hospital) ;
Diaw, Sokhna Haissatou (University of Luebeck) ;
Grözinger, Anne (University of Luebeck) ;
Cazurro-Gutiérrez, Ana Laura (Hospital Universitari Vall d'Hebron) ;
Pérez-Dueñas, Belén (Hospital Universitari Vall d'Hebron) ;
González, Victoria (Hospital Universitari Vall d'Hebron) ;
Macaya Ruiz, Alfons (Hospital Universitari Vall d'Hebron) ;
Serrano Antón, Ana Teresa (Hospital Clínico Universitario Virgen de la Arrixaca (El Palmar, Múrcia)) ;
Peterlin, Borut (University Medical Centre Ljubljana) ;
Božović, Ivana Babić (University Medical Centre Ljubljana) ;
Maver, Aleš (University Medical Centre Ljubljana) ;
Münchau, Alexander (University of Luebeck) ;
Lohmann, Katja (University of Luebeck) ;
Universitat Autònoma de Barcelona
Biallelic variants in the mitochondrial form of the tryptophanyl-tRNA synthetases (WARS2) can cause a neurodevelopmental disorder with movement disorders including early-onset tremor-parkinsonism syndrome. [...]
2023 -  10.3390/genes14040822
Genes, Vol. 14 (march 2023)
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2.
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13 p, 1.7 MB |
False lumen rotational flow and aortic stiffness are associated with aortic growth rate in patients with chronic aortic dissection of the descending aorta : a 4D flow cardiovascular magnetic resonance study
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Ruiz-Muñoz, Aroa (Universitat Autònoma de Barcelona. Departament de Medicina) ;
Guala, Andrea (Hospital Universitari Vall d'Hebron. Institut de Recerca) ;
Dux-Santoy, Lydia (Hospital Universitari Vall d'Hebron. Institut de Recerca) ;
Teixido-Tura, Gisela (Hospital Universitari Vall d'Hebron) ;
Servato, Maria Luz (Hospital Universitari Vall d'Hebron) ;
Valente, Filipa (Hospital Universitari Vall d'Hebron) ;
Garrido-Oliver, Juan (Hospital Universitari Vall d'Hebron. Institut de Recerca) ;
Galian-Gay, Laura (Hospital Universitari Vall d'Hebron) ;
Gutiérrez García-Moreno, Laura (Hospital Universitari Vall d'Hebron) ;
Fernandez-Galera, Rubén (Hospital Universitari Vall d'Hebron) ;
Casas, Guillem (Hospital Universitari Vall d'Hebron) ;
González-Alujas, Teresa (Hospital Universitari Vall d'Hebron) ;
Cuellar-Calabria, Hug (Universitat Autònoma de Barcelona. Departament de Medicina) ;
Johnson, Kevin M. (University of Wisconsin. Departments of Medical Physics & Radiology) ;
Wieben, Oliver (University of Wisconsin. Departments of Medical Physics & Radiology) ;
Ferreira-Gonzalez, Ignacio (Universitat Autònoma de Barcelona. Departament de Medicina) ;
Evangelista Masip, Arturo (Universitat Autònoma de Barcelona. Departament de Medicina) ;
Rodriguez-Palomares, Jose F (Hospital Universitari Vall d'Hebron. Institut de Recerca)
Patency of the false lumen in chronic aortic dissection (AD) is associated with aortic dilation and long-term aortic events. However, predictors of adverse outcomes in this population are limited. The aim of this study was to evaluate the relationship between aortic growth rate and false lumen flow dynamics and biomechanics in patients with chronic, patent AD. [...]
2022 - 10.1186/s12968-022-00852-6
Journal of Cardiovascular Magnetic Resonance, Vol. 24 (march 2022)
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3.
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0 p, 1.4 MB |
Prognosis of Paradoxical Low-Flow Low-Gradient Aortic Stenosis : A Severe, Non-critical Form, With Surgical Treatment Benefits
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Galian-Gay, Laura (Hospital Universitari Vall d'Hebron. Institut de Recerca) ;
Escalona Silva, Roxana Andreina (Hospital Universitari Vall d'Hebron) ;
Teixido-Tura, Gisela (Hospital Universitari Vall d'Hebron) ;
Casas, Guillem (Hospital Universitari Vall d'Hebron. Institut de Recerca) ;
Ferrer-Sistach, Elena (Institut Germans Trias i Pujol. Hospital Universitari Germans Trias i Pujol) ;
Mitroi, Cristina (Hospital Universitario Puerta de Hierro Majadahonda (Madrid)) ;
Mingo, Susana (Hospital Universitario Puerta de Hierro Majadahonda (Madrid)) ;
Monivas, Vanessa (Hospital Universitario Puerta de Hierro Majadahonda (Madrid)) ;
Saura, Daniel (Hospital Clínico Universitario Virgen de la Arrixaca (El Palmar, Múrcia)) ;
Vidal, Bàrbara (Hospital Clínic i Provincial de Barcelona) ;
Trasca, Livia (Hospital Clínic i Provincial de Barcelona) ;
Moral Torres, Sergio (Hospital Universitari de Girona Doctor Josep Trueta) ;
Calvo Iglesias, Francisco (Hospital Álvaro Cunqueiro (Vigo)) ;
Castiñeira Busto, Maria (Hospital Álvaro Cunqueiro (Vigo)) ;
Sánchez, Violeta (Hospital Universitario 12 de Octubre (Madrid)) ;
Gonzalez, Ariana (Hospital Universitario Ramón y Cajal (Madrid)) ;
Guzman, Gabriela (Hospital Universitario La Paz (Madrid)) ;
Mora, Marta Noris (Institut d'Investigació Sanitària Illes Balears) ;
Arnau Vives, Miguel Ángel (Hospital Universitari i Politècnic La Fe (València)) ;
Peteiro, Jesús (Complejo Hospitalario Universitario de A Coruña) ;
Bouzas, Alberto (Complejo Hospitalario Universitario de A Coruña) ;
Mas-Stachurska, Aleksandra (Hospital del Mar (Barcelona, Catalunya)) ;
González-Alujas, Teresa (Hospital Universitari Vall d'Hebron) ;
Gutiérrez García-Moreno, Laura (Hospital Universitari Vall d'Hebron) ;
Fernandez-Galera, Rubén (Hospital Universitari Vall d'Hebron) ;
Valente, Filipa (Hospital Universitari Vall d'Hebron) ;
Guala, Andrea (Hospital Universitari Vall d'Hebron) ;
Ruiz-Muñoz, Aroa (Hospital Universitari Vall d'Hebron) ;
Sao-Avilés, Augusto (Hospital Universitari Vall d'Hebron) ;
Rodriguez-Palomares, Jose F (Hospital Universitari Vall d'Hebron) ;
Ferreira-Gonzalez, Ignacio (Hospital Universitari Vall d'Hebron) ;
Evangelista, Artur (Hospital Universitari Vall d'Hebron) ;
Universitat Autònoma de Barcelona
To determine the risk of mortality and need for aortic valve replacement (AVR) in patients with low-flow low-gradient (LFLG) aortic stenosis (AS). A longitudinal multicentre study including consecutive patients with severe AS (aortic valve area [AVA] < 1. [...]
2022 - 10.3389/fcvm.2022.852954
Frontiers in Cardiovascular Medicine, Vol. 9 (april 2022)
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4.
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16 p, 1.9 MB |
Elucidating the Mechanism of Action of the Attributed Immunomodulatory Role of Eltrombopag in Primary Immune Thrombocytopenia : An In Silico Approach
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Lozano, Maria L. (Hospital General Universitario Morales Meseguer (Múrcia)) ;
Segú-Vergés, Cristina (Anaxomics Biotech SL) ;
Coma, Mireia (Anaxomics Biotech SL) ;
Alvarez-Román, María Teresa (Instituto de Investigación Sanitaria del Hospital Universitario La Paz) ;
González-Porras, José Ramón (Hospital Universitario de Salamanca) ;
Gutiérrez, Laura (Universidad de Oviedo) ;
Valcárcel, David (Vall d'Hebron Institut d'Oncologia) ;
Butta, Nora (Hospital Universitario La Paz (Madrid)) ;
Universitat Autònoma de Barcelona
Eltrombopag is a thrombopoietin receptor (MPL) agonist approved for the treatment of primary immune thrombocytopenia (ITP). Recent evidence shows that some patients may sustain platelet counts following eltrombopag discontinuation. [...]
2021 - 10.3390/ijms22136907
International journal of molecular sciences, Vol. 22 (june 2021)
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5.
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16 p, 3.1 MB |
Unraveling Bicuspid Aortic Valve Enigmas by Multimodality Imaging : Clinical Implications
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Evangelista Masip, Arturo (Hospital Universitari Vall d'Hebron. Institut de Recerca) ;
Galian-Gay, Laura (Hospital Universitari Vall d'Hebron. Institut de Recerca) ;
Guala, Andrea (Hospital Universitari Vall d'Hebron. Institut de Recerca) ;
Lopez-Sainz, Angela (Hospital Universitari Vall d'Hebron. Institut de Recerca) ;
Teixido-Tura, Gisela (Hospital Universitari Vall d'Hebron. Institut de Recerca) ;
Ruiz Muñoz, Aroa (Hospital Universitari Vall d'Hebron. Institut de Recerca) ;
Valente, Filipa (Hospital Universitari Vall d'Hebron. Institut de Recerca) ;
Gutiérrez García-Moreno, Laura (Hospital Universitari Vall d'Hebron. Institut de Recerca) ;
Fernandez-Galera, Ruben (Hospital Universitari Vall d'Hebron. Institut de Recerca) ;
Casas, Guillem (Hospital Universitari Vall d'Hebron. Institut de Recerca) ;
Panaro, Alejandro (Teknon Heart Institute-Quiron Salud) ;
Marigliano, Alba (Teknon Heart Institute-Quiron Salud) ;
Huguet, Marina (Teknon Heart Institute-Quiron Salud) ;
González-Alujas, Teresa (Hospital Universitari Vall d'Hebron. Institut de Recerca) ;
Rodriguez-Palomares, Jose F (Hospital Universitari Vall d'Hebron. Institut de Recerca) ;
Universitat Autònoma de Barcelona
Multimodality imaging is the basis of the diagnosis, follow-up, and surgical management of bicuspid aortic valve (BAV) patients. Transthoracic echocardiography (TTE) is used in our clinical routine practice as a first line imaging for BAV diagnosis, valvular phenotyping and function, measurement of thoracic aorta, exclusion of other aortic malformations, and for the assessment of complications such are infective endocarditis and aortic. [...]
2022 - 10.3390/jcm11020456
Journal of clinical medicine, Vol. 11 (january 2022)
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6.
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14 p, 6.0 MB |
Structural and functional analysis of tomato sterol C22 desaturase
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Gutiérrez-García, Laura (Centre de Recerca en Agrigenòmica) ;
Arró i Plans, Montserrat (Centre de Recerca en Agrigenòmica) ;
Altabella Artigas, Teresa (Centre de Recerca en Agrigenòmica) ;
Ferrer, Albert (Centre de Recerca en Agrigenòmica) ;
Boronat i Margosa, Albert (Centre de Recerca en Agrigenòmica)
Background: Sterols are structural and functional components of eukaryotic cell membranes. Plants produce a complex mixture of sterols, among which β-sitosterol, stigmasterol, campesterol, and cholesterol in some Solanaceae, are the most abundant species. [...]
2021 - 10.1186/s12870-021-02898-7
BMC plant biology, Vol. 21 (March 2021) , art. 141
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7.
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13 p, 2.4 MB |
Diagnostic value of quantitative parameters for myocardial perfusion assessment in patients with suspected coronary artery disease by single- and dual-energy computed tomography myocardial perfusion imaging
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Ruiz-Muñoz, Aroa (Universitat Autònoma de Barcelona) ;
Valente, Filipa (Universitat Autònoma de Barcelona) ;
Dux-Santoy, Lydia (Universitat Autònoma de Barcelona) ;
Guala, Andrea (Universitat Autònoma de Barcelona) ;
Teixido-Tura, Gisela (Universitat Autònoma de Barcelona) ;
Galian-Gay, Laura (Universitat Autònoma de Barcelona) ;
Gutiérrez García-Moreno, Laura (Universitat Autònoma de Barcelona) ;
Fernández-Galera, Ruben (Universitat Autònoma de Barcelona) ;
Casas, Guillem (Universitat Autònoma de Barcelona) ;
González-Alujas, Teresa (Universitat Autònoma de Barcelona) ;
Ferreira-Gonzalez, Ignacio (Hospital Universitari Vall d'Hebron. Institut de Recerca) ;
Evangelista Masip, Arturo (Universitat Autònoma de Barcelona) ;
Rodríguez-Palomares, José (Universitat Autònoma de Barcelona)
To compare performance of visual and quantitative analyses for detecting myocardial ischaemia from single- and dual-energy computed tomography (CT) in patients with suspected coronary artery disease (CAD). [...]
2021 - 10.1016/j.ijcha.2021.100721
International journal of cardiology. Heart & vasculature, Vol. 32 (february 2021)
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8.
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11 p, 2.1 MB |
Low and Oscillatory Wall Shear Stress Is Not Related to Aortic Dilation in Patients With Bicuspid Aortic Valve
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Dux-Santoy, Lydia (Hospital Universitari Vall d'Hebron. Institut de Recerca) ;
Guala, Andrea (Hospital Universitari Vall d'Hebron. Institut de Recerca) ;
Sotelo, Julio (Pontificia Universidad Católica de Chile) ;
Uribe, Sergio (Pontificia Universidad Católica de Chile) ;
Teixido-Tura, Gisela (Hospital Universitari Vall d'Hebron. Institut de Recerca) ;
Ruiz-Muñoz, Aroa (Hospital Universitari Vall d'Hebron. Institut de Recerca) ;
Hurtado, Daniel E. (Pontificia Universidad Católica de Chile) ;
Valente, Filipa (Hospital Universitari Vall d'Hebron. Institut de Recerca) ;
Galian-Gay, Laura (Hospital Universitari Vall d'Hebron. Institut de Recerca) ;
Gutiérrez García-Moreno, Laura (Hospital Universitari Vall d'Hebron. Institut de Recerca) ;
González-Alujas, Teresa (Hospital Universitari Vall d'Hebron. Institut de Recerca) ;
Johnson, Kevin M. (University of Wisconsin-Madison) ;
Wieben, Oliver (University of Wisconsin-Madison) ;
Ferreira-Gonzalez, Ignacio (Hospital Universitari Vall d'Hebron. Institut de Recerca) ;
Evangelista Masip, Arturo (Hospital Universitari Vall d'Hebron. Institut de Recerca) ;
Rodriguez-Palomares, Jose F (Hospital Universitari Vall d'Hebron. Institut de Recerca) ;
Universitat Autònoma de Barcelona
Supplemental Digital Content is available in the text. To assess the relationship between regional wall shear stress (WSS) and oscillatory shear index (OSI) and aortic dilation in patients with bicuspid aortic valve (BAV). [...]
2019 - 10.1161/ATVBAHA.119.313636
Arteriosclerosis, Thrombosis, and Vascular Biology, Vol. 40 (december 2019) , p. e10-e20
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9.
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11 p, 5.5 MB |
Decreased rotational flow and circumferential wall shear stress as early markers of descending aorta dilation in Marfan syndrome : a 4D flow CMR study
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Guala, Andrea (Hospital Universitari Vall d'Hebron. Institut de Recerca) ;
Teixido-Tura, Gisela (Hospital Universitari Vall d'Hebron. Institut de Recerca) ;
Dux-Santoy, Lydia (Hospital Universitari Vall d'Hebron) ;
Granato, C. (Hospital Universitari Vall d'Hebron. Institut de Recerca) ;
Ruiz-Muñoz, Aroa (Hospital Universitari Vall d'Hebron. Institut de Recerca) ;
Valente, Filipa (Hospital Universitari Vall d'Hebron. Institut de Recerca) ;
Galian-Gay, Laura (Hospital Universitari Vall d'Hebron. Institut de Recerca) ;
Gutiérrez García-Moreno, Laura (Hospital Universitari Vall d'Hebron. Institut de Recerca) ;
González-Alujas, Teresa (Hospital Universitari Vall d'Hebron. Institut de Recerca) ;
Johnson, K. M. (University of Wisconsin - Madison. Departments of Medical Physics & Radiology) ;
Wieben, Oliver (University of Wisconsin - Madison. Departments of Medical Physics & Radiology) ;
Sao-Avilés, Augusto (Hospital Universitari Vall d'Hebron. Institut de Recerca) ;
Evangelista Masip, Arturo (Hospital Universitari Vall d'Hebron) ;
Rodriguez-Palomares, J. (Hospital Universitari Vall d'Hebron. Institut de Recerca) ;
Universitat Autònoma de Barcelona
Diseases of the descending aorta have emerged as a clinical issue in Marfan syndrome following improvements in proximal aorta surgical treatment and the consequent increase in life expectancy. Although a role for hemodynamic alterations in the etiology of descending aorta disease in Marfan patients has been suggested, whether flow characteristics may be useful as early markers remains to be determined. [...]
2019 - 10.1186/s12968-019-0572-1
Journal of Cardiovascular Magnetic Resonance, Vol. 21 (october 2019)
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10.
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11 p, 320.0 KB |
Diabetic retinopathy as an independent predictor of subclinical cardiovascular disease : Baseline results of the PRECISED study
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Simó Canonge, Rafael (Hospital Universitari Vall d'Hebron. Institut de Recerca) ;
Bañeras, Jordi (Hospital Universitari Vall d'Hebron. Institut de Recerca) ;
Hernández, Cristina (Hospital Universitari Vall d'Hebron. Institut de Recerca) ;
Rodríguez-Palomares, José (Hospital Universitari Vall d'Hebron. Institut de Recerca) ;
Valente, Filipa (Hospital Universitari Vall d'Hebron. Institut de Recerca) ;
Gutiérrez García-Moreno, Laura (Hospital Universitari Vall d'Hebron. Institut de Recerca) ;
González-Alujas, Teresa (Hospital Universitari Vall d'Hebron. Institut de Recerca) ;
Ferreira-Gonzalez, Ignacio (Hospital Universitari Vall d'Hebron. Institut de Recerca) ;
Aguadé-Bruix, Santiago (Hospital Universitari Vall d'Hebron. Institut de Recerca) ;
Montaner, Joan (Hospital Universitari Vall d'Hebron. Institut de Recerca) ;
Seron, Daniel (Red de Investigación Renal) ;
Genescà Ferrer, Joan (Centro de Investigación Biomédica en Red de Enfermedades Hepáticas y Digestivas) ;
Boixadera Espax, Anna (Hospital Universitari Vall d'Hebron. Institut de Recerca) ;
García Arumí, José (Hospital Universitari Vall d'Hebron. Institut de Recerca) ;
Planas, Alejandra (Hospital Universitari Vall d'Hebron. Institut de Recerca) ;
Simó-Servat, Olga (Hospital Universitari Vall d'Hebron. Institut de Recerca) ;
García-Dorado, David (Hospital Universitari Vall d'Hebron. Institut de Recerca) ;
Universitat Autònoma de Barcelona
Objective Detection of subclinical cardiovascular disease (CVD) has significant impact on the management of type 2 diabetes. We examined whether the assessment of diabetic retinopathy (DR) is useful for identifying patients at a higher risk of having silent CVD. [...]
2019 - 10.1136/bmjdrc-2019-000845
BMJ open diabetes research and care, Vol. 7 Núm. 1 (29 2019) , p. e000845
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