Is an NPC1L1 gene promoter variant associated with autosomal dominant hypercholesterolemia?
The -133A>G polymorphism exerts a significant effect on NPC1L1 promoter activity. NPC1L1 promoter variants might explain in part the hypercholesterolemic phenotype of some subjects with nonLDLR/nonAPOB ADH.
Loss of gray-white matter differentiation and basilar cistern effacement and sulcal effacement are associated with poor outcome after pediatric out-of-hospital cardiac arrest. Select patients may have favorable outcomes despite these findings.