UBA1 is an E1 ubiquitin-activating enzyme that initiates the ubiquitylation of target proteins and is thus a key component of the ubiquitin signaling pathway. Three disorders are associated with pathogenic variants of the UBA1 gene: vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic (VEXAS) syndrome, lung cancer in never smokers (LCINS), and X-linked spinal muscular atrophy (XL-SMA, SMAX2). We here report a case of infantile respiratory distress syndrome followed by continuing neuromuscular symptoms.
View Article and Find Full Text PDFIntroduction: We aimed to determine the impact of prior antimicrobial treatment on recurrent Clostridioides difficile infection (CDI) based on days of antibiotic spectrum coverage (DASC) and predict the risk of recurrence to guide the selection of appropriate initial therapeutic agents.
Methods: We assessed the antimicrobial treatment administered to 195 patients with a history of CDI for 28 days before testing positive for C. difficile using DASC and illness severity using ATLAS scores.