Germline mutations in POLE and POLD1 are linked to variable cancer risks, with findings highlighting mutation-specific differences that refine tumor predisposition assessment.
A rare carotid artery pseudoaneurysm complicated by MRSA infection, septic arthritis, and an incidental thigh tumor challenged clinicians but was successfully treated with surgery and targeted antibiotics.
Presymptomatic treatment with risdiplam was associated with improved motor development and survival without permanent ventilation in infants with spinal muscular atrophy (SMA), according to 24-month results from the phase 2 RAINBOWFISH trial published in the New England Journal of Medicine.