Results 91 to 100 of about 1,059,580 (243)

UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase (GNE) binds to alpha-actinin 1: novel pathways in skeletal muscle? [PDF]

, 2008
Hereditary inclusion body myopathy (HIBM) is a rare neuromuscular disorder caused by mutations in GNE, the key enzyme in the biosynthetic pathway of sialic acid.
North Kathryn N., Mitrani-Rosenbaum, S, Shira Amsili, Stephan Hinderlich, Krause, S, Hinderlich Stephan, Hagit Zer, MacArthur, DG, Mitrani-Rosenbaum Stella, Mitrani-Rosenbaum, Stella, Zer, Hagit, Amsili Shira, Becker-Cohen, M, Hinderlich, S, Amsili, S, Becker-Cohen Michal, Krause, Sabine, Krause Sabine, Kathryn N North, North, Kathryn N., Zer Hagit, Sabine Krause, Daniel G MacArthur, Hinderlich, Stephan, Michal Becker-Cohen, MacArthur Daniel G., Zer, H, MacArthur, Daniel G., Stella Mitrani-Rosenbaum, Becker-Cohen, Michal, Amsili, Shira, North, KN   +31 more
core   +2 more sources

Role of selenium in the pathophysiology of cardiorenal anaemia syndrome

ESC Heart Failure, Volume 12, Issue 2, Page 770-780, April 2025.
Abstract Chronic kidney disease (CKD) and cardiovascular disease (CVD) have multiple bidirectional mechanisms, and anaemia is one of the critical factors that are associated with the progression of the two disorders [referred to as cardiorenal anaemia syndrome (CRAS)].
Shigeyuki Arai, Minoru Yasukawa, Shigeru Shibata   +2 more
wiley   +1 more source

Study protocol to investigate the effects of testosterone therapy as an adjunct to exercise rehabilitation in hypogonadal males with chronic heart failure [PDF]

, 2006
Testosterone deficiency is a common occurrence in men with chronic heart failure (CHF) and may underpin features of advanced disease, including reduced skeletal muscle mass and fatigue.
Mathur, Atish, Zwierska, Irena, Saxton, John, Saxton, John M, Channer, Kevin S, Channer, Kevin   +5 more
core   +1 more source

Commonalities of platelet dysfunction in heart failure with preserved ejection fraction and underlying comorbidities

ESC Heart Failure, Volume 12, Issue 2, Page 1013-1028, April 2025.
Abstract Heart failure with preserved ejection fraction (HFpEF) is characterized by a lack of a specific targeted treatment and a complex, partially unexplored pathophysiology. Common comorbidities associated with HFpEF are hypertension, atrial fibrillation, obesity and diabetes.
Giorgia D'Italia, Blanche Schroen, Judith M.E.M. Cosemans   +2 more
wiley   +1 more source

The Diagnostic Journey from Rhabdomyolysis to Myopathy with Tubular Aggregates: A Family-Based Case Report and Review of the Literature

Pediatric Reports
Introduction/Aims: Myopathies with Tubular Aggregates (TAM) are rare, chronic neuromuscular disorders that may be inherited or acquired. The aim of this report is to present the diagnostic pathway and the challenges encountered in a family with three ...
Slavica Ostojić, Sanja Milenković, Sonja Pavlović, Gordana Kovačević, Gordana Petrović, Aleksandra Paripović, Adrijan Sarajlija, Marina Anđelković, Vladimir Gašić, Danijela Radivojević   +9 more
doaj   +1 more source

Inherited metabolic epilepsies–established diseases, new approaches

Epilepsia Open, EarlyView.
Abstract Inherited metabolic epilepsies (IMEs) represent the inherited metabolic disorders (IMDs) in which epilepsy is a prevailing component, often determining other neurodevelopmental outcomes associated with the disorder. The different metabolic pathways affected by individual IMEs are the basis of their rarity and heterogeneity.
Itay Tokatly Latzer, Phillip L. Pearl
wiley   +1 more source

Electronic Devices and Digital Therapeutics in Neuromuscular Diseases: Narrative Review on Current Applications in Patients' Management and Pharmacovigilance

Health Care Science, EarlyView.
Digital innovations are revolutionizing neuromuscular disease management by integrating wearable sensors, mobile applications, and telemedicine to enable continuous monitoring and personalized care. These technologies enhance diagnosis, treatment, and drug development fostering dynamic interaction between patients and clinicians paving the way toward ...
Ilaria Saltarella, Concetta Altamura, Paola Laghetti, Giuseppina Settanni, Nicola Savino, Angelo Galiano, Bodvaël Fraysse, Angelo Vacca, Jean‐François Desaphy   +8 more
wiley   +1 more source

The role of Coenzyme Q10 in statin-associated myopathy [PDF]

, 2009
Statins, or 3-hydroxyl-3-methylglutaryl coenzyme HMG-CoA reductase inhibitors,\ud are cholesterol-lowering drugs which are frequently used in the primary and secondary\ud prevention of coronary artery disease. Current research and recommendations support\
Kalra, Dr Sanjay
core  

Anti‐U1‐RNP‐Positive Inflammatory Myopathy Presenting With Dysphagia: A Case Report [PDF]

Clin Case Rep
ABSTRACT High‐titer anti‐U1‐RNP antibodies may present with myopathy without fulfilling MCTD criteria. We report a 38‐year‐old woman with proximal weakness, elevated muscle enzymes, anti‐U1‐RNP positivity, and inflammatory myopathy on EMG/MRI, but lacking classic overlap features.
Anjlee, Rasheed S, Ashfaq M, Bai S, Yaqubi A, Raza A.   +5 more
europepmc   +2 more sources

Tolerability of Adjuvant Nivolumab in Esophageal or Gastroesophageal Junction Cancer: A Real‐World Study

International Journal of Cancer, EarlyView.
ABSTRACT Adjuvant nivolumab is approved for esophageal or gastroesophageal junction cancer after neoadjuvant chemoradiotherapy and resection. In the CheckMate‐577 trial, Grade 3–5 nivolumab‐related adverse events (AEs) occurred in 5% of patients, with early discontinuation due to toxicity in 9%. However, real‐world data on immunotherapy‐related adverse
Michelle Koops van ’t Jagt, Anniek Strijdhorst, Tamara Jessica Huizer, Esther Albertien Kleibeuker, Sarah Derks, Bianca Mostert, Hanneke van Laarhoven, Jacco Juri de Haan   +7 more
wiley   +1 more source