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Impact of pathogenic mutations of the GLUT1 glucose transporter on solute carrier dynamics using ComDYN enhanced sampling.
F1000Res
January 2025
Dept. Computer Science, Integrative Bioinformatics, Vrije Universiteit, Amsterdam, The Netherlands.
The solute carrier (SLC) family of membrane proteins is a large class of transporters for many small molecules that are vital for cellular function. Several pathogenic mutations are reported in the glucose transporter subfamily SLC2, causing Glut1-deficiency syndrome (GLUT1DS1, GLUT1DS2), epilepsy (EIG2) and cryohydrocytosis with neurological defects (Dystonia-9). Understanding the link between these mutations and transporter dynamics is crucial to elucidate their role in the dysfunction of the underlying transport mechanism, which we investigate using molecular dynamics simulations.
View Article and Find Full Text PDFSevere pregnancy-associated atypical hemolytic uremia syndrome in the context of the COVID-19 pandemic: a novel survival case report.
BMC Pregnancy Childbirth
January 2025
Department of Intensive Care Medicine, Army Medical Center of PLA, No. 10 Changjiang Road, Yuzhong District, Chongqing, 400010, People's Republic of China.
Background: Pregnancy-associated atypical hemolytic uremic syndrome (aHUS) is a form of thrombotic microangiopathy (TMA) caused by uncontrolled activation of the complement system during pregnancy or the postpartum period. In the intensive care unit, aHUS must be differentiated from sepsis-related multiple organ dysfunction, thrombotic thrombocytopenic purpura (TTP), hemolysis, elevated liver enzymes, and low platelet (HELLP) syndrome. Early recognition of aHUS is critical for effective treatment and improved prognosis.
View Article and Find Full Text PDFUnmasking CHANTER syndrome: A rare neurological consequence of opioid overdose.
Am J Emerg Med
January 2025
Departmnet of Emergency Medicine, Albany Medical College, United States of America. Electronic address:
The opioid epidemic remains a major public health issue in the U.S., with over 100,000 overdose deaths in 2022, many linked to synthetic opioids.
View Article and Find Full Text PDFCharacterization of Factors Associated With Death in Deceased Patients With Mitochondrial Disorders: A Multicenter Cross-Sectional Survey.
Neurology
February 2025
Department of Medicine and Geriatrics, Tuen Mun Hospital, Hong Kong, People's Republic of China.
Background And Objectives: Mitochondrial disorders are multiorgan disorders resulting in significant morbidity and mortality. We aimed to characterize death-associated factors in an international cohort of deceased individuals with mitochondrial disorders.
Methods: This cross-sectional multicenter observational study used data provided by 26 mitochondrial disease centers from 8 countries from January 2022 to March 2023.
Intra-articular Median Nerve Entrapment of the Elbow After Medial Epicondyle Fracture: A Case Report.
JBJS Case Connect
January 2025
Department of General and Trauma Surgery, BG University Hospital Bergmannsheil, Bochum, Germany.
Case: We describe a 13-year-old adolescent girl experiencing persistent pain and reduced grip strength following nonoperative treatment of a medial epicondyle fracture-dislocation with closed reduction over 5 years before her referral to our clinic. Neurological examination and magnetic resonance imaging of the elbow revealed damage to the median nerve due to an entrapment within the elbow. Surgical release of the nerve resulted in complete pain relief and improved neurological function with normalized nerve conduction.
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