World Neurosurg
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Moyamoya disease (MMD) is a cerebrovascular disease characterized by progressive stenosis of the intracranial internal carotid arteries and their proximal branches. Epidemiologically, MMD is more prevalent in East Asia than any other region worldwide, and has been estimated at 0.94 per 100,000 in the Japanese and 0.43 per 100,000 in the Chinese population. The etiology of this rare disease, however, remains unknown. ⋯ Recent genome-wide and locus-specific association studies identified RNF213 as an important susceptibility gene of MMD among the East Asian population. The exact mechanism by which the RNF213 abnormality relates to MMD remains unknown, whereas recently identified RNF213 encodes a 591-kDa protein containing enzymatically active P-loop ATPase and ubiquitin ligase domains and is involved in proper vascular development in zebrafish provide new insight for the pathogenesis of this rare entity. In this review article, we focused on the genetics and biomarkers of MMD and sought to discuss their clinical implication.
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We conducted the largest systematic review of individual patient data to characterize secondary craniofacial sarcomas following retinoblastoma. ⋯ The risk of incidence of secondary sarcomas in retinoblastoma patients warrants longer follow-up periods. Moreover, chemotherapy should be considered as a potential treatment option for secondary cranial sarcomas following retinoblastoma.
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Spontaneous intracranial hypotension syndrome results from spontaneous spinal cerebrospinal fluid (CSF) leaks. The first treatment of choice consists of lumbar epidural blood patching. If this fails, further imaging is mandatory to explore the possibility of targeted therapy. ⋯ A targeted epidural blood patch using an epidural catheter represents an elegant approach to a CSF leak at the C1-C2 region and can be successful in treating patients with severe intracranial hypotension syndrome.
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The Helsinki computed tomography (CT) scoring system was developed to predict long-term outcome in patients with traumatic brain injury (TBI) 2 years ago; however, it has not yet been external validated. This study aimed to determine whether this system could be used as an independent predictor for TBI. ⋯ The Helsinki CT score showed good prognostic discrimination and can be used as an independent predictor for long-term outcome prediction in patients with TBI.
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Quantitative comparison of minimally invasive and standard cranial approaches remains a methodologic challenge. The aim of this study was to apply a new digital, navigation-based method to quantify multiple parameters of the pterional, supraorbital, lateral supraorbital and mini-pterional approaches and to describe a target-specific maneuverability score. ⋯ The combination of a navigation-based measurement method with custom software (GTxEyesII) provides a powerful tool for visualization and quantification of surgical approaches. Compared with standard pterional craniotomy, alternative keyhole craniotomies offer comparable deep exposure with smaller working volumes and relatively high maneuverability for specific targets.