Results 81 to 90 of about 577,063 (338)

SNUPN‐Related Muscular Dystrophy: Novel Phenotypic, Pathological and Functional Protein Insights

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective SNUPN‐related muscular dystrophy or LGMDR29 is a new entity that covers from a congenital or childhood onset pure muscular dystrophy to more complex phenotypes combining neurodevelopmental features, cataracts, or spinocerebellar ataxia. So far, 12 different variants have been described.
Nuria Muelas, Pablo Iruzubieta, Alberto Damborenea, Laura Pérez‐Fernández, Inmaculada Azorín, Juan Carlos Jiménez García, Ana Töpf, Pilar Martí, Lorena Fores‐Toribio, María Manterola, Rosana Blanco‐Mañez, Oihane Pikatza‐Menoio, Sonia Alonso‐Martín, Volker Straub, Aitziber L. Cortajarena, Adolfo López de Munain, David De Sancho, Lorea Blázquez, Juan J. Vilchez   +18 more
wiley   +1 more source

A thermodynamic framework for modelling membrane transporters

, 2018
Membrane transporters contribute to the regulation of the internal environment of cells by translocating substrates across cell membranes. Like all physical systems, the behaviour of membrane transporters is constrained by the laws of thermodynamics ...
Crampin, Edmund J., Cursons, Joseph, Gawthrop, Peter J., Pan, Michael, Tran, Kenneth   +4 more
core   +1 more source

Assessment of Left Atrial Deformation and Function by 2-Dimensional Speckle Tracking Echocardiography in Healthy Dogs and Dogs With Myxomatous Mitral Valve Disease [PDF]

, 2017
open7noBackground: The assessment of left atrial (LA) function by 2-dimensional speckle tracking echocardiography (STE) holds important clinical implications in human medicine. Few similar data are available in dogs.
Baron Toaldo, M., Cipone, M., Contiero, B., Diana, A., Guglielmini, C., Pelle, N. G., Romito, G.   +6 more
core   +2 more sources

Impact of APOE ε4 Genotype Load on Cognitive Function and Lipid Metabolism in Patients With Cerebral Small Vessel Disease

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background Apolipoprotein ε4 (APOE ε4) is a potent genetic risk factor for Alzheimer's disease (AD). However, its role in cerebral small vessel disease (CSVD) remains unclear. Given the clinical and pathological similarities between CSVD and AD, this study aimed to investigate the associations of APOE ε4 gene dosage with cognitive function and
Tingru Jin, Haocheng Yang, Feng Liu, Sihao Lin, Junru Hu, Jian Wang, Yulan Gou   +6 more
wiley   +1 more source

MyoLoop: Design, development and validation of a standalone bioreactor for pathophysiological electromechanical in vitro cardiac studies

Experimental Physiology
Mechanical load is one of the main determinants of cardiac structure and function. Mechanical load is studied in vitro using cardiac preparations together with loading protocols (e.g., auxotonic, isometric).
Fotios G. Pitoulis, Jacob J. Smith, Blanca Pamias‐Lopez, Pieter P. deTombe, Danika Hayman, Cesare M. Terracciano   +5 more
doaj   +1 more source

Life‐Threatening Bradycardia in Anti‐NMDA‐Receptor Encephalitis and a Novel Use for Permanent Pacing

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background Pediatric anti‐NMDA receptor encephalitis (pNMDARE) is an autoantibody‐mediated disorder that can cause severe autonomic dysfunction, including symptomatic bradycardia and asystole. Dysautonomia can last for years, making it very challenging to manage.
Sarah Tucker, Abhijit Das, Andres Jimenez, Areeba Basit, Yike Jiang, Emily A. Smitherman, Heather Van Mater, Taylor Howard, Alexander J. Sandweiss, Kristen S. Fisher   +9 more
wiley   +1 more source

INFLUENCE OF CARDIOVASCULAR RISK FACTORS ON AORTIC WALL MOTION AFTER REPAIR OF TYPE A AORTIC DISSECTION: AN ECG-GATED CT STUDY [PDF]

, 2012
OBJECTIVES: To evaluate aortic shape changes during cardiac cycle with dynamic computed tomographic angiography at important thoracic aorta anatomic landmarks in patients who previously underwent ascending aorta repair because of type A dissection, and ...
CROCCIA, MARIAGRAZIA
core  

Automatic Segmentation and Disease Classification Using Cardiac Cine MR Images

, 2017
Segmentation of the heart in cardiac cine MR is clinically used to quantify cardiac function. We propose a fully automatic method for segmentation and disease classification using cardiac cine MR images.
Isgum, Ivana, Leiner, Tim, Viergever, Max A., Wolterink, Jelmer M.   +3 more
core   +2 more sources

Ultrasonography Compared With Computed Tomography in Identifying Thoracic Aortic Aneurysms in Patients With Giant Cell Arteritis

Arthritis Care &Research, EarlyView.
Objective The objectives of this study were to evaluate the correlation and agreement between ultrasonography and computed tomography (CT) in measuring ascending aorta diameter in patients with giant cell arteritis (GCA) and to investigate the development of new ascending aortic aneurysms in patients with newly diagnosed GCA.
Anne C. Bull Haaversen, Lene K. Brekke, Tanaz A. Kermani, Øyvind Molberg, Andreas P. Diamantopoulos   +4 more
wiley   +1 more source

Improving visualization of 4D flow cardiovascular magnetic resonance with four-dimensional angiographic data: generation of a 4D phase-contrast magnetic resonance CardioAngiography (4D PC-MRCA)

Journal of Cardiovascular Magnetic Resonance, 2017
Magnetic Resonance Angiography (MRA) and Phase-Contrast MRA (PC-MRA) approaches used for assessment of cardiovascular morphology typically result in data containing information from the entire cardiac cycle combined into one 2D or 3D image.
Mariana Bustamante, Vikas Gupta, Carl-Johan Carlhäll, Tino Ebbers   +3 more
doaj   +1 more source