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Abstract To elucidate the pathogenesis of vein of Galen malformations (VOGMs), the most common and most severe of congenital brain arteriovenous malformations, we performed an integrated analysis of 310 VOGM proband-family exomes and 336,326 human cerebrovasculature single-cell transcriptomes. We found the Ras suppressor p120 RasGAP (RASA1) harbored a genome-wide significant burden of loss-of-function de novo variants (2042.5-fold, p = 4.79 x 10−7). Rare, damaging transmitted variants were enriched in Ephrin receptor-B4 (EPHB4) (17.5-fold, p = 1.22 x 10−5), which cooperates with p120 RasGAP to regulate vascular development. Additional probands had damaging variants in ACVRL1, NOTCH1, ITGB1, and PTPN11. ACVRL1 variants were also identified in a multi-generational VOGM pedigree. Integrative genomic analysis defined developing endothelial cells as a likely spatio-temporal locus of VOGM pathophysiology. Mice expressing a VOGM-specific EPHB4 kinase-domain missense variant (Phe867Leu) exhibited disrupted developmental angiogenesis and impaired hierarchical development of arterial-capillary-venous networks, but only in the presence of a “second-hit” allele. These results illuminate human arterio-venous development and VOGM pathobiology and have implications for patients and their families.

Introduction: Global access to electronic medical records (EMRs) continues to grow, however many countries including those within the Caribbean Community (CARICOM) lack access to this system. Minimal research investigating EMR use in this region exists. Research question: How does limited EMR access impact neurosurgical care within the CARICOM? Materials and methods: The Cochrane Library, EMBASE, Scopus, PubMed/MEDLINE databases, and grey literature were queried for studies addressing this issue within the CARICOM and low- and/or middle-income countries (LMICs). A comprehensive search for hospitals within the CARICOM was performed and responses to a survey inquiring about neurosurgery availability and EMR access within each facility were recorded. Results: 26 out of 87 surveys were returned leading to a response rate of 29.0%. Among the survey respondents, 57.7% stated neurosurgery was provided at their facility; however, only 38.4% admitted to using an EMR system. Paper charting was the primary means of record keeping for the majority of the facilities (61.5%). The most frequently reported barriers stalling EMR implementation were financial limitations (73.6%) and poor internet access (26.3%). A total of 14 articles were included in the scoping review. Results from these studies suggest that limited EMR access contributes to suboptimal neurosurgical outcomes within the CARICOM and LMICs. Discussion and conclusion: This paper is the first to address the impact that limited EMR has on neurosurgical outcomes in the CARICOM. The lack of research addressing this issue also highlights the need for ongoing efforts to increase research output focused on EMR accessibility and neurosurgical outcomes in these countries.

Abstract Five million neurosurgical cases go untreated each year. This is in part due to the lack of neurosurgical care providers. The World Federation of Neurosurgical Societies has spearheaded efforts to monitor the number of neurosurgical providers around the globe since 2016. In this perspective, we discuss why, when, and how the neurosurgical workforce should be measured.

Introduction: Neurological disorders are one of the leading causes of death and disability adjusted life years (DALYs). Efforts have been made to increase the neurosurgical workforce in an attempt to address the global disease burden. Despite these efforts, there continues to be a shortage of neurosurgeons in both high-income countries (HICs) and low-and middle-income countries (LMICs). Research question: The aim of the study was to identify the barriers to neurosurgical training in LMICs and HICs. Materials and methods: We administered an electronic survey targeting medical students, neurosurgery residents, and recent neurosurgery graduates from 69 countries in both HICs and LMICs. Questions were framed to assess barriers to training. Results: Of the 198 responses received (31.3% response rate), 72% identified as male, 27% female, and 0.5% as non-binary gender. 33 respondents were from HICs and 165 were from LMICs. 70.1% of respondents reported no availability of dissection labs in their home institutions. There was a significant difference in availability of subspecialty training between LMICs and HMICs (p ​= ​0.001) but no significance was seen for competitiveness of programs (p ​= ​0.473). Discussion and conclusion: There are limitations to our study: it is not comprehensive of training programs globally, there is sampling bias, especially among LMICs, and the accuracy of responses is unclear. Nonetheless, our results highlight the need for a deliberate focus on designing and implementing both short and long term goals in tackling barriers to access to neurosurgical training, with a conscientious effort to involve interested stakeholders and governments to invest in the training and education of their neurosurgical workforce.

Introduction: Opportunities for in-country neurosurgical training are severely limited in LMICs, particularly due to rigorous educational requirements and prohibitive upfront costs. Research question: This study aims to evaluate financial barriers aspiring neurosurgeons face in accessing and completing neurosurgical training, specifically in LMICs, in order to determine the barriers to equitable access to training. Material and methods: In order to assess the financial costs of accessing and completing neurosurgery residency, an electronic survey was administered to those with the most recent experience with the process: aspiring neurosurgeons, neurosurgical trainees, and recent neurosurgery graduates. We attempted to include a broad representation of World Health Organization (WHO) geographic regions and World Bank income classifications in order to determine differences among regions and countries of different income levels. Results: Our survey resulted in 198 unique responses (response rate 31.3%), of which 83% (n ​= ​165) were from LMICs. Cost data were reported for 48 individual countries, of which 26.2% were reported to require trainees to pay for their neurosurgical training. Payment amounts varied amongst countries, with multiple countries having costs that surpassed their annual gross national income as defined by the World Bank. Discussion and conclusions: Opportunities for formal neurosurgical training are severely limited, especially in LMICs. Cost is an important barrier that can not only limit the capacity to train neurosurgeons but can also perpetuate inequitable access to training. Additional investment by governments and other stakeholders can help develop a sufficient workforce and reduce inequality for the next generation of neurosurgeons worldwide.