Journal of neurosurgery
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Journal of neurosurgery · Apr 2017
RNF213 as the major susceptibility gene for Chinese patients with moyamoya disease and its clinical relevance.
OBJECTIVE Moyamoya disease (MMD) is a rare, genetically heterogeneous cerebrovascular disease. The authors conducted a genetic study of really interesting new gene (RING) finger protein 213 ( RNF213); actin alpha 2 ( ACTA2); BRCA1/BRCA2-containing complex subunit 3 ( BRCC3); and guanylate cyclase 1, soluble, alpha 3 ( GUCY1A3) as well as a clinical phenotype analysis in Chinese MMD patients to determine whether genetic differences are responsible for the different clinical features that appear in MMD in different ethnicities. METHODS A panel was designed to identify disease-causing mutations in MMD genes and those involved in related disorders ( RNF213, ACTA2, BRCC3, and GUCY1A3). ⋯ The spectrum of rare variants identified in Chinese MMD patients was diverse. Compared to patients without the rare variants in RNF213, the p. R4810K heterozygous patients exhibited different clinical features.
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Journal of neurosurgery · Apr 2017
CommentCraniotomy for perisellar meningiomas: comparison of simple (appropriate for endoscopic approach) versus complex anatomy and surgical outcomes.
OBJECTIVE Microsurgical resection of perisellar meningiomas has remained the gold standard for treatment, with extended endoscopic endonasal surgery emerging as a viable alternative. Historical microsurgical series do not distinguish based on tumor anatomy, but are being used as a comparison against endonasal surgery. In this study, the authors retrospectively reviewed and compared the anatomy of perisellar meningiomas seen at their institution. ⋯ CONCLUSIONS Extended endoscopic surgery is emerging as a viable alternative to microsurgical resection of perisellar meningiomas. The authors identified 2 patient groups based on tumor anatomy, with distinctly separate surgical outcomes. In the future, patients considered for endoscopic resection should be compared against the surgical group with simple anatomy that includes smaller tumors, no vascular encasement, and limited optic canal invasion.
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Journal of neurosurgery · Apr 2017
CommentComparative observational study on the clinical presentation, intracranial volume measurements, and intracranial pressure scores in patients with either Chiari malformation Type I or idiopathic intracranial hypertension.
OBJECTIVE Several lines of evidence suggest common pathophysiological mechanisms in Chiari malformation Type I (CMI) and idiopathic intracranial hypertension (IIH). It has been hypothesized that tonsillar ectopy, a typical finding in CMI, is the result of elevated intracranial pressure (ICP) combined with a developmentally small posterior cranial fossa (PCF). To explore this hypothesis, the authors specifically investigated whether ICP is comparable in CMI and IIH and whether intracranial volumes (ICVs) are different in patients with CMI and IIH, which could explain the tonsillar ectopy in CMI. ⋯ CONCLUSIONS This study showed comparable and elevated pulsatile ICP, indicative of impaired intracranial compliance, in both CMI and IIH cohorts, while static ICP was higher in the IIH cohort. The data did not support the hypothesis that reduced PCFV combined with increased ICP causes tonsillar ectopy in CMI. Even though impaired intracranial compliance seems to be a common pathophysiological mechanism behind both conditions, the mechanisms explaining the different clinical and radiological presentations of CMI and IIH remain undefined.
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Journal of neurosurgery · Apr 2017
Continuous intranigral infusion is not associated with observable behavioral deficits or marked pathology: a preclinical safety study.
OBJECTIVE A better understanding of the effects of chronically delivering compounds to the substantia nigra and nearby areas is important for the development of new therapeutic approaches to treat alpha-synucleinopathies, like Parkinson's disease. Whether chronic intranigral delivery of an infusate could be achieved without causing motor dysfunction or marked pathology remains unclear. The authors evaluated the tolerability of continuously delivering an infusate directly into the rhesus monkey substantia nigra via a programmable pump coupled to a novel intraparenchymal needle-tip catheter surgically implanted using MRI-guided techniques. ⋯ Mild to moderate microglial reactions were observed at most catheter track sites and were comparable between the 2 infusion rates. Finally, there was neither observable decrease of tyrosine hydroxylase staining in the striatum nor detectable necrosis of neurons in the pars compacta region of the substantia nigra in any of the animals. CONCLUSIONS The data from this study support the feasibility of using a pump-and-catheter system for chronic intranigral infusion and lay the foundation for using this approach to treat Parkinson's disease or other related degenerative diseases that would benefit from targeted drug delivery to the substantia nigra or to other brainstem regions.