Saturation Gap During Anesthesia in Glucose-6-Phosphate Dehydrogenase Deficiency and Methemoglobinemia: A Case Report and Review of Perioperative Management. [PDF]
Santiago B +5 more
europepmc +1 more source
Cardiac remodeling and arrhythmia in a mouse model of Depdc5 haploinsufficiency
Abstract Objective Some ion channel genes linked to developmental and epileptic encephalopathy (DEE) are also linked to cardiac arrhythmia, leading to the hypothesis that predisposition to cardiac arrhythmias may contribute to the complex disease presentation of DEE and possibly to the mechanism of sudden unexpected death in epilepsy.
Roberto Ramos‐Mondragon +9 more
wiley +1 more source
Glucose-6-phosphate dehydrogenase deficiency is associated with improved survival in patients with acute myeloid leukemia treated with venetoclax and azacitidine. [PDF]
Buchrits S +7 more
europepmc +1 more source
Inherited metabolic epilepsies–established diseases, new approaches
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
Performance evaluation of an automated method for accurate identification of glucose-6-phosphate dehydrogenase deficiency on the BS-2800M analyzer. [PDF]
Liu Q, Xu A, Huang Y, Wang F.
europepmc +1 more source
Abstract Glut1 deficiency syndrome (Glut1DS) leads to neurological and cognitive symptoms and is primarily treated using carbohydrate‐restricted ketogenic diets. However, a recent clinical trial of a less restrictive, non‐ketogenic, medium chain triglyceride (MCT) diet with a high decanoic acid content suggests efficacy in Glut1DS treatment.
Erwann Pain +10 more
wiley +1 more source
Abstract Background Racehorses undergo profound physiological changes with training and competition, but current biomarkers inadequately capture the complex molecular dynamics of exercise. This study aimed to identify novel plasma biomarkers of training adaptation and peak load using high‐throughput proteomics.
Jowita Grzędzicka +4 more
wiley +1 more source
Pooled prevalence of Glucose-6-phosphate dehydrogenase deficiency among malaria patients in Ethiopia: a systematic review and meta-analysis. [PDF]
Dessie G +8 more
europepmc +1 more source
Glucose-6-phosphate dehydrogenase deficiency among malaria suspects attending Gambella hospital, southwest Ethiopia [PDF]
core +1 more source
Abstract Background There is emerging evidence for the role of the immune system in osteoarthritis (OA) pathophysiology; however, little is known about how immune cells and the synovial transcriptome are altered in naturally occurring equine OA. Objectives To evaluate synovial fluid (SF) and synovial membrane (SM) immune cell populations and the SM ...
E. J. Secor +7 more
wiley +1 more source

