Apollo Hospitals

Fatal infantile encephalopathy due to NAXE variant: Navigating the Metabolic-Mitochondrial overlap in NAXE gene

Abstract Background Progressive Encephalopathy with Brain Edema and/or Leukoencephalopathy-1 (PEBEL-1) is a rare, rapidly progressive, and often fatal infantile neurometabolic disorder caused by pathogenic variants in the NAXE gene. Loss of NAXE impairs the NAD(P)HX repair pathwa...

Avoiding False Negatives: Importance of Early 68 Ga Pentixafor PET-CT Acquisition in Primary Aldosteronism Evaluation

Primary aldosteronism (PA) is a prevalent cause of secondary hypertension, and accurate subtyping into unilateral aldosterone-producing adenoma (APA) versus bilateral adrenal hyperplasia is critical, as the former warrants surgical intervention while the latter is managed medical...