Results 101 to 110 of about 26,855 (306)

Metabolic abnormalities and reprogramming in cats with naturally occurring hypertrophic cardiomyopathy

ESC Heart Failure, Volume 12, Issue 2, Page 1256-1270, April 2025.
Abstract Background and aims The heart is a metabolic organ rich in mitochondria. The failing heart reprograms to utilize different energy substrates, which increase its oxygen consumption. These adaptive changes contribute to increased oxidative stress.
Qinghong Li, Max Homilius, Erin Achilles, Laura K. Massey, Victoria Convey, Åsa Ohlsson, Ingrid Ljungvall, Jens Häggström, Brittany Vester Boler, Pascal Steiner, Sharlene Day, Calum A. MacRae, Mark A. Oyama   +12 more
wiley   +1 more source

Left atrial function in uraemic patients: Four‐dimensional automatic left atrial quantitative technology study

ESC Heart Failure, Volume 12, Issue 2, Page 1316-1325, April 2025.
Abstract Objective This study aimed to evaluate the utility of left atrial volume and function in uraemic patients using four‐dimensional automatic left atrial quantification (4D auto LAQ) technology. Methods Thirty‐four undialysed uraemic patients (U‐ND group), 60 dialysed uraemic patients (U‐D group), and 32 healthy volunteers (N group) were enrolled
Bing Li, Meihua Chen, Xuning Huang
wiley   +1 more source

Severity of effect considerations regarding the use of mutation as a toxicological endpoint for risk assessment: A report from the 8th International Workshop on Genotoxicity Testing (IWGT)

Environmental and Molecular Mutagenesis, EarlyView.
Abstract Exposure levels without appreciable human health risk may be determined by dividing a point of departure on a dose–response curve (e.g., benchmark dose) by a composite adjustment factor (AF). An “effect severity” AF (ESAF) is employed in some regulatory contexts.
Barbara L. Parsons, Marc A. Beal, Kerry L. Dearfield, George R. Douglas, Min Gi, B. Bhaskar Gollapudi, Robert H. Heflich, Katsuyoshi Horibata, Michelle Kenyon, Alexandra S. Long, David P. Lovell, Anthony M. Lynch, Meagan B. Myers, Stefan Pfuhler, Alisa Vespa, Andreas Zeller, George E. Johnson, Paul A. White   +17 more
wiley   +1 more source

Sudden unexpected death in an infant with L-2-hydroxyglutaric aciduria [PDF]

, 2018
Inherited metabolic disorders are the cause of a small but significant number of sudden unexpected deaths in infancy. We report a girl who suddenly died at 11months of age, during an intercurrent illness.
Ballhausen, Diana, Bonafé, Luisa, Boulat, Olivier, Jakobs, Cornelis, Jequier Gygax, Marine, Meagher-Villemure, Kathleen, Roulet-Perez, Eliane, Salomons, Gajja, Superti-Furga, Andrea   +8 more
core  

Clinical Images: Biopsy‐proven hydroxychloroquine‐induced cardiomyopathy in an adolescent with systemic lupus erythematosus

Arthritis &Rheumatology, EarlyView.
Greta Mastrangelo, Deborah M. Levy, Anita Nagy, Aamir Jeewa   +3 more
wiley   +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

Catching the Culprit: How Chorea May Signal an Inborn Error of Metabolism. [PDF]

Tremor Other Hyperkinet Mov (N Y), 2023
Ortigoza-Escobar JD.
europepmc   +1 more source

Neonatal seizures: Advances in diagnosis and management

Epilepsia Open, EarlyView.
Abstract The International League Against Epilepsy (ILAE) created the ILAE Neonatal Task Force that classified neonatal seizures, defined neonatal epilepsy syndromes, and specified treatment guidelines. These frameworks, in addition to improved access to genetic testing and other recent advances, have revolutionized the diagnosis and management of ...
Elissa G. Yozawitz, Ronit M. Pressler, Eli M. Mizrahi   +2 more
wiley   +1 more source

High Myopia: A Pointer of an Inborn Error of Metabolism. [PDF]

Cureus, 2022
Sahu SK, Behera JR, Kr J, Puramjai M, Gudu R, Dash AK, Rup AR, Patnaik S.   +7 more
europepmc   +1 more source

THE YIELD OF A UNIFIED SCREEN FOR THE INVESTIGATION OF INBORN ERRORS OF METABOLISM IN CHILDREN WITH NEURODEVELOPMENTAL CONDITIONS – A RETROSPECTIVE CHART REVIEW [PDF]

, 2018
Norah Nahhas, Iskra Peltekova, Daniela Buhaş   +2 more
openalex   +1 more source