Results 71 to 80 of about 614,277 (403)

Validity and Reliability of Clinical and Patient‐Reported Outcomes in Multisystem Proteinopathy 1

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Valosin‐containing protein (VCP)‐associated multisystem proteinopathy 1 (MSP1) is caused by variants in the VCP gene. MSP1 results in various phenotypes including progressive myopathy, Paget's disease of bone, frontotemporal dementia, amyotrophic lateral sclerosis, and parkinsonism, among others.
Lindsay N. Alfano, Megan A. Iammarino, Natalie F. Reash, Linda P. Lowes, Lindsay Pietruszewski, Kathleen Adderley, Lauren Humphrey, Audrey B. Knight, Christopher L. Steiner, Melissa A. Smith, Zarife Sahenk, Anne M. Connolly, Momen Almomen, Eleonora S. D'Ambrosio, Nathan Peck, Allison Peck   +15 more
wiley   +1 more source

Echocardiographic Changes Following Surgical Myectomy in Severely Symptomatic Obstructive Hypertrophic Cardiomyopathy: Insights From the SPIRIT‐HCM Study

Journal of the American Heart Association: Cardiovascular and Cerebrovascular Disease
Background In obstructive hypertrophic cardiomyopathy, myectomy improves symptoms, quality of life, and left ventricular (LV) outflow tract gradients. We prospectively evaluated the temporal changes in various echo parameters after myectomy.
Milind Y. Desai, Natalie Szpakowski, Albree Tower‐Rader, Barb Bittel, Agostina Fava, Susan Ospina, Bo Xu, Maran Thamilarasan, Amgad Mentias, Nicholas G. Smedira, Zoran B. Popovic   +10 more
doaj   +1 more source

Mitochondrial ROS Formation in the Pathogenesis of Diabetic Cardiomyopathy

Frontiers in Cardiovascular Medicine, 2020
Diabetic cardiomyopathy is a result of diabetes-induced changes in the structure and function of the heart. Hyperglycemia affects multiple pathways in the diabetic heart, but excessive reactive oxygen species (ROS) generation and oxidative stress ...
N. Kaludercic, F. Di Lisa
semanticscholar   +1 more source

Early-Onset Atrial Fibrillation and the Prevalence of Rare Variants in Cardiomyopathy and Arrhythmia Genes

JAMA cardiology, 2021
Key Points Question In patients diagnosed with atrial fibrillation before 66 years of age, what is the prevalence of disease-associated variants in susceptibility genes for inherited cardiomyopathy and arrhythmia syndromes? Findings In this cohort study,
Z. Yoneda, K. Anderson, Joseph A. Quintana, M. O’Neill, Richard A. Sims, A. Glazer, C. Shaffer, Diane M. Crawford, T. Stricker, Fei Ye, Q. Wells, L. Stevenson, G. Michaud, D. Darbar, S. Lubitz, P. Ellinor, D. Roden, M. B. Shoemaker   +17 more
semanticscholar   +1 more source

Compound Heterozygous MRPS14 Variants Associated With Leigh Syndrome

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT MRPS14 (uS14m) is a nuclear‐encoded ribosomal protein important for mitochondria‐specific translation. To date, only a single individual with a recessive MRPS14‐related disorder (also known as COXPD38) has been reported. We report an additional subject possessing novel compound heterozygous MRPS14 variants (p.Asp37Asn, p.Asn60Asp). The subject
Maria Gabriela Otero, Christina Freeman, Ruchi Shah, Renkui Bai, Hong Cui, Marian Castro, Zachary Myers, Eric Choy, Derek Chan, Molly Easter, Sophia Y. Zhao, Madeline Babros, Ruchi Garg, Matthew Deardorff, Franklin Moser, Tyler Mark Pierson   +15 more
wiley   +1 more source

Cardiomyopathies.

Acta bio-medica : Atenei Parmensis, 2019
The most common cardiomyopathies often present to primary care physicians with similar symptoms, despite the fact that they involve a variety of phenotypes and etiologies (1). Many have signs and symptoms common in heart failure, such as reduced ejection fraction, peripheral edema, fatigue, orthopnea, exertion dyspnea, paroxysmal nocturnal dyspnea ...
Precone, Vincenza, Krasi, Geraldo, Guerri, Giulia, Madureri, Alberto, Piazzani, Mariangela, Michelini, Sandro, Barati, Shila, Maniscalchi, Tiziana, Bressan, Simone, Bertelli, Matteo   +9 more
openaire   +2 more sources

A One Health Approach to Hypertrophic Cardiomyopathy. [PDF]

, 2017
Hypertrophic cardiomyopathy (HCM) is the most common inherited cardiac disease in humans and results in significant morbidity and mortality. Research over the past 25 years has contributed enormous insight into this inherited disease particularly in the ...
Stern, Joshua A, Ueda, Yu
core   +1 more source

[2014 ESC Guidelines on diagnosis and management of hypertrophic cardiomyopathy].

Kardiologia polska, 2014
© 2015, Silicea-Poligraf. All Rights Reserved. The Task Force for the Diagnosis and Management of Hypertrophic Cardiomyopathy of the European Society of Cardiology (ESC).
Perry M. Elliott, A. Anastasakis, M. Borger, Martin Borggrefe, F. Cecchi, P. Charron, A. Hagège, A. Lafont, Giuseppe Limongelli, H. Mahrholdt, W. McKenna, J. Mogensen, P. Nihoyannopoulos, S. Nistri, P. Pieper, B. Pieske, C. Rapezzi, F. Rutten, Christoph Tillmanns, Hugh Watkins   +19 more
semanticscholar   +1 more source

Translating Muscle RNAseq Into the Clinic for the Diagnosis of Muscle Diseases

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Approximately half of patients with hereditary myopathies remain without a definitive genetic diagnosis after DNA next‐generation sequencing (NGS). Here, we implemented transcriptome analysis of muscle biopsies as a complementary diagnostic tool for patients with muscle disease but no definitive genetic diagnosis after exome ...
Alba Segarra‐Casas, Cristina Domínguez‐González, Daniel Natera‐de Benito, Solange Kapetanovic, Aurelio Hernández‐Laín, Berta Estévez‐Arias, Laura Llansó, Carlos Ortez, Cristina Jou, Itxaso Martí‐Carrera, Arístides López‐Márquez, Maria José Rodríguez, Laura González‐Mera, Velina Nedkova, Roberto Fernández‐Torrón, Benjamín Rodríguez‐Santiago, Cecília Jimenez‐Mallebrera, Raul Juntas‐Morales, Adolfo López‐de Munain, Jordi Surrallés, Andrés Nascimento, Eduard Gallardo, Montse Olivé, Pia Gallano, Lidia González‐Quereda   +24 more
wiley   +1 more source

The Feline Cardiomyopathies: 2. Hypertrophic cardiomyopathy

Journal of Feline Medicine and Surgery, 2021
Practical relevance: Hypertrophic cardiomyopathy (HCM) is the most common form of feline cardiomyopathy observed clinically and may affect up to approximately 15% of the domestic cat population, primarily as a subclinical disease. Fortunately, severe HCM, leading to heart failure or arterial thromboembolism (ATE), only occurs in a small proportion of ...
Etienne Côté, Mark D Kittleson
openaire   +3 more sources