X-linked Adrenoleukodystrophy in a 20-Year-Old Male With an ABCD1 Gene Mutation: First Case From Pakistan.

X-linked adrenoleukodystrophy (X-ALD) is a rare neurodegenerative disease characterized by genetic mutation of the ABCD1 gene. This gene encodes for transmembrane adrenoleukodystrophy protein (ALDP). Defective ALDP protein results in the accumulation of a very long chain fatty acid (VLCFA) within certain tissues and plasma.

Pediatric Risk of Mortality III Score in Predicting Mortality Among Diabetic Ketoacidosis Patients in a Pediatric Intensive Care Unit.

Background Diabetic ketoacidosis (DKA) is one of the most common complications of type 1 diabetes. Mortality is not uncommon in DKA, mostly in younger children with severe DKA and those complicated with cerebral edema. Early identification of high-risk patients can help in timely interventions to improve the outcome of DKA.