Journal of neurosurgery
-
Journal of neurosurgery · Jul 2023
Radiographic predictors of aneurysmal etiology in patients with aneurysmal pattern subarachnoid hemorrhage.
Spontaneous angiogram-negative nonperimesencephalic subarachnoid hemorrhage (an-NPSAH) can represent a diagnostic and management dilemma. The authors sought to determine radiographic predictors of aneurysmal etiology based on admission noncontrast head CT scans. ⋯ There are differences in radiographic features on admission head CT between an-NPSAH and aSAH patients. The authors' proposed risk stratification model may be considered for further development and use in clinical practice in the future.
-
Inherited variants predisposing patients to type 1 or 1.5 Chiari malformation (CM) have been hypothesized but have proven difficult to confirm. The authors used a unique high-risk pedigree population resource and approach to identify rare candidate variants that likely predispose individuals to CM and protein structure prediction tools to identify pathogenicity mechanisms. ⋯ Analysis of unique and powerful Utah genetic resources allowed identification of 38 strong candidate CM predisposition gene variants. These variants should be pursued in independent populations. One of the candidates, a rare HOXC4 variant, was identified in 2 high-risk CM pedigrees, with this variant possibly predisposing patients to a Chiari phenotype with craniocervical kyphosis.