Itraconazole Inhibits OXPHOS in AML, Targets Therapy-Resistant Leukemic Stem Cells
A drug-repurposing screen identifies the antifungal itraconazole as an oxidative phosphorylation inhibitor effective against AML leukemic stem cells.
Biallelic EIPR1 Variants Cause Neurodevelopmental Syndrome and Neutropenia
Defects in endosomal recycling and dense core vesicle biogenesis drive a spectrum of microcephaly, ataxia, and spasticity.
Selective HDAC6 Inhibition Improves Motor Function in Preclinical ALS Models
A CNS-penetrant small molecule restores protein clearance and axonal transport, reducing neurofilament levels and TDP-43 pathology.
SSPOP Mutations Linked to Pediatric Epilepsy and Developmental Disorders
Researchers identify pathogenic variants in a supposed pseudogene, expanding the diagnostic landscape for unexplained neurodevelopmental delay.
JMJD1C Deficiency Drives Pathogenic Antibody Production in Heparin-Induced Thrombocytopenia
Loss of the histone demethylase JMJD1C triggers B-cell hyperactivation and the production of platelet-activating antibodies.
Selective HDAC6 Inhibition Restores Axonal Transport in Preclinical ALS Models
A brain-penetrant small molecule improves motor function and reduces TDP-43 pathology in animal and human cellular models of neurodegeneration.
SSPOP Gene Mutations Linked to Pediatric Epilepsy and Developmental Delay
Researchers identify pathogenic variants in a presumed pseudogene, expanding the diagnostic landscape for unexplained seizure disorders.
Simple Thoracostomy Shows Higher Success Rate Than Needle Decompression in Cadavers
A crossover study using fresh human cadavers found that simple thoracostomy achieved faster and more complete pleural decompression.
Mandibular Septum Mapping Identifies Safe Zones for Lower Face Surgery
Cadaveric dissections reveal the mandibular septum's continuity with the platysma-mandibular ligament and its distance from motor nerves.
Home-Based Prefrontal Cortex Stimulation Reduces Subjective Stress Appraisal
A feasibility study of self-administered tDCS shows high adherence and safety, though physiological stress markers remained unchanged.
Crisis Skills Correlate With Dispatcher Performance in Mass Casualties
A 19-month simulation study shows a strong correlation between crisis resource management skills and objective performance metrics.