Results 121 to 130 of about 110,913 (348)

Poor Outcome in a Mitochondrial Neurogastrointestinal Encephalomyopathy Patient with a Novel TYMP Mutation: The Need for Early Diagnosis. [PDF]

, 2012
Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) is a devastating autosomal recessive disorder due to mutations in TYMP, which cause loss of function of thymidine phosphorylase (TP), nucleoside accumulation in plasma and tissues and ...
Bax, BE, Bereczki, C, Buono, R, Filosto, M, Padovani, A, Russignan, A, Scarpelli, M, Tonin, P, Zappini, F, Zombor, M   +9 more
core   +3 more sources

Super‐Refractory Status Epilepticus (SRSE) in a Patient With Compound Heterozygous OPA1 Variants: Case Report and Literature Review

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Super‐Refractory Status Epilepticus (SRSE) is a rare, life‐threatening neurological emergency with unclear etiology in many cases. Mitochondrial dysfunction, often due to disease‐causing genetic variants, is increasingly recognized as a cause, with each gene producing distinct pathophysiological mechanisms.
Pouria Mohammadi, Lara Basovic, Christopher Michael McGraw   +2 more
wiley   +1 more source

Leucine supplementation differentially enhances pancreatic cancer growth in lean and overweight mice [PDF]

, 2014
Kristyn A Liu1†, Laura M Lashinger1†, Audrey J Rasmussen1† and Stephen D Hursting12* Author Affiliations 1 Department of Nutritional Sciences, University of Texas at Austin, Austin, TX 78723, USA 2 Department of Molecular Carcinogenesis, University ...
Hursting, Stephend D., Lashinger, Laura M., Liu, Kristyn A., Rasmussen, Audrey J.   +3 more
core   +1 more source

COVID‐19: a major cause of cachexia and sarcopenia?

Journal of Cachexia, Sarcopenia and Muscle, 2020
Coronavirus disease (COVID-19) has reached pandemic proportions. Two animal studies have shown that coronavirus-2 causes weight loss in animals associated with an increase in inflammatory cytokines.
J. Morley, K. Kalantar-Zadeh, S. Anker
semanticscholar   +1 more source

Functional and Structural Evidence of Neurofluid Circuit Aberrations in Huntington Disease

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Disrupted neurofluid regulation may contribute to neurodegeneration in Huntington disease (HD). Because neurofluid pathways influence waste clearance, inflammation, and the distribution of central nervous system (CNS)–delivered therapeutics, understanding their dysfunction is increasingly important as targeted treatments emerge.
Kilian Hett, Abigail Dubois, Melanie Leguizamon, Alexander Song, Paula Trujillo, Colin D. McKnight, Ciaran M. Considine, Manus J. Donahue, Daniel O. Claassen   +8 more
wiley   +1 more source

Cachexia in Patients with Gastrointestinal Cancers: Contributing Factors, Prevention, and Current Management Approaches

European Medical Journal Gastroenterology, 2020
Cancer cachexia is highly prevalent among patients with the advanced stage of cancers and leads to a higher risk of mortality. Delayed management of cachexia results in suboptimal treatment outcomes and irreversible progression to refractory cachexia ...
Oliver Grundmann, Saunjoo L. Yoon, Joseph J. Williams   +2 more
doaj  

Tumour-derived leukaemia inhibitory factor is a major driver of cancer cachexia and morbidity in C26 tumour-bearing mice [PDF]

, 2018
BACKGROUND: Cancer cachexia is a metabolic wasting syndrome that is strongly associated with a poor prognosis. The initiating factors causing fat and muscle loss are largely unknown. Previously, we found that leukaemia inhibitory factor (LIF) secreted by
Alter, Aulino, Ben-David, Bilir, Bonetto, Bonetto, Cornwell, Delitto, Delitto, Dingemans, Fearon, Fearon, Fukawa, Gascan, Graf, Haehling, He, Iseki, Jackman, Jo, Johns, Judge, Kir, Lerner, Loumaye, Martin, Mori, Mori, Onesti, Penna, Petruzzelli, Rubin, Sagar, Schafer, Seto, Stephens, Talbert, Tseng, Villiger, Zhang   +39 more
core   +1 more source

Adipokines and Associations With Incident Osteoporotic Fracture in Patients With Rheumatoid Arthritis

Arthritis Care &Research, EarlyView.
Objective We assessed whether circulating adipokines are associated with incident fractures in patients with rheumatoid arthritis (RA). Methods Three adipokines (adiponectin, leptin, and fibroblast growth factor [FGF]‐21) were measured using banked enrollment serum from participants in a longitudinal RA cohort.
Joshua F. Baker, Bryant R. England, Michael D. George, Hannah Brubeck, Brian Sauer, Aleksander Lenert, Punyasha Roul, Geoffrey M. Thiele, Ted R. Mikuls, Katherine D. Wysham   +9 more
wiley   +1 more source

β‐Catenin/c‐Myc Axis Modulates Autophagy Response to Different Ammonia Concentrations

Advanced Biology, Volume 9, Issue 3, March 2025.
Ammonia, detoxified by the liver into urea and glutamine, impacts autophagy differently at varying levels. Low ammonia activates autophagy via c‐Myc and β‐catenin, while high levels suppress it. Using Huh7 cells and Spf‐ash mice, c‐Myc's role in cytoprotective autophagy is revealed, offering insights into hyperammonemia and potential therapeutic ...
S. Sergio, B. Spedicato, G. Corallo, A. Inguscio, M. Greco, D. Musarò, D. Vergara, A. F. Muro, G. De Sabbata, L. R. Soria, N. Brunetti Pierri, M. Maffia   +11 more
wiley   +1 more source

Health care professionals’ experience, understanding and perception of need of advanced cancer patients with cachexia and their families: The benefits of a dedicated clinic. [PDF]

, 2016
BACKGROUND: Cachexia is defined as the on-going loss of skeletal muscle mass that cannot be fully reversed by conventional nutritional support. It is found in up to 80% of patients with advanced cancer and has profound psycho-social consequences for ...
CM Holden, D Churm, D Latham, David Scott, GW Taylor, H Suzuki, I Andrew, J Hopkinson, J Hopkinson, J Hopkinson, J Hopkinson, J Reid, J Reid, JD Marcus, Joanne Reid, KCH Fearon, KCH Fearon, L Radbruch, L Sun, L Thoresen, M Aapro, MF Penet, N Hayes, N MacDonald, Peter Hudson, Peter Martin, R Hinsley, S Dosanjh, S Innes, Sam Porter, V Braun, VF Reyna   +31 more
core   +1 more source