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The 2021 World Health Organization (WHO) classification of the central nervous system (CNS) tumors has classified diffuse leptomeningeal glioneuronal tumor (DLGNT) as a mixed neuronal and glial tumor. Here, we report a DLGNT with two distinct morphological tumor components but identical molecular features. A four-year-old female child presented with progressive right upper extremity weakness. Magnetic resonance imaging (MRI) revealed the leptomeningeal enhancement over the brain stem and cervicothoracic spine. The histological examination of surgical specimens revealed two distinct tumor components: approximately half of the tumor is composed of oligodendroglioma-like tumor intermingled with nodules of ganglioglioma-like tumor. Immunohistochemistry confirmed the oligodendroglioma and ganglioglioma features. The molecular genetic studies demonstrated the features of DLGNT, including fusion of KIAA1549::BRAF, deletion of chromosome 1p, and absence of isocitrate dehydrogenase 1/2 (IDH1/2) mutation in both tumor components. Interestingly, the genetic studies also revealed the distinct chromosomal abnormalities of the loss of chromosome 4 only in oligodendroglioma-like tumor and copy neutral loss of heterozygosity of 7Q34Q36.3 in the ganglioglioma-like tumor component. This case highlights the critical role of molecular testing in the diagnosis of rare cases of DLGNT with diverse morphological components as well as in the identification of unique molecular alternations responsible for morphological phenotypes of the distinct tumors in DLGNT., (© 2024 The Author(s). Neuropathology published by John Wiley & Sons Australia, Ltd on behalf of Japanese Society of Neuropathology.)

Background: Nablus mask-like facial syndrome (NMFLS) is an extremely rare genetic syndrome characterized by facial dysmorphia as well as developmental delay. In the present report we describe a potential association between non-traumatic atlanto-occipital dislocation and NMFLS in an 11-year old female lacking typical facial features of NMFLS., Case Description: An 11-year-old female with autism presented with symptoms of persistent headache and vomiting as well as neck stiffness. Further investigation and CT imaging revealed congenital malformation of the skull base and craniocervical junction with complete posterior subluxation of the left occipital condyle. MRI findings later corroborated the findings on CT., Conclusions: The patient was successfully treated with occipitocervical fusion. The findings in this case suggest the possibility that atlanto-occipital instability and generalized occipitocervical may be associated with NMFLS., Competing Interests: Declaration of Competing interest report no conflicts of interest. The authors alone are responsible for the content and writing of the article., (Copyright © 2024 The Authors. Published by Elsevier Masson SAS.. All rights reserved.)

Purpose: Operative guidelines and use optimization for new surgical exoscopes are not well described in the literature. In this study, we evaluated use of the ORBEYE (Olympus) surgical exoscope system during 5-ALA fluorescence-guided resection of GBMs to optimize workflow and exoscope settings., Methods: The ORBEYE exoscope system was fitted with a blue light filter for 5-ALA mediated fluorescence-guided surgery (FGS). Intraoperative images were obtained during 5-ALA FGS in 9 patients with primary or recurrent GBM. The exoscope was set up at constant, increasing focal distances from the target tissue, and light source intensity varied. High-resolution 4 K images were captured and analyzed. Comparisons of fluorescence to background were then generated for use optimization., Results: Light intensity did not significantly influence tumor fluorescence (P = 0.878). However, focal distance significantly impacted relative fluorescent intensity (P = 0.007). Maximum average fluorescence was seen consistently at a focal length of 220 mm and a light intensity of approximately 75% maximum. Decreasing focal distance from 400 mm to 220 mm significantly increased visualized fluorescence (P = 0.0038)., Conclusions: The ORBEYE surgical exoscope system with blue light filter is a powerful imaging tool for 5-ALA FGS in GBM. The ORBEYE blue filter performs optimally at shorter focal distance with moderate light intensity. Similar to microscope systems, decreasing focal distance significantly influences visualized fluorescence., (© 2023. The Author(s), under exclusive licence to Springer Science+Business Media, LLC, part of Springer Nature.)

Background: The complexity of the relationships among the structures within the brain makes efficient mastery of neuroanatomy difficult for medical students and neurosurgical residents. Therefore, there is a need to provide real-time segmentation of neuroanatomic images taken from various perspectives to assist with training., Objective: To develop the initial foundation of a neuroanatomic image segmentation algorithm using artificial intelligence for education., Methods: A pyramidal scene-parsing network with a convolutional residual neural network backbone was assessed for its ability to accurately segment neuroanatomy images. A data set of 879 images derived from The Neurosurgical Atlas was used to train, validate, and test the network. Quantitative assessment of the segmentation was performed using pixel accuracy, intersection-over-union, the Dice similarity coefficient, precision, recall, and the boundary F1 score., Results: The network was trained, and performance was assessed class wise. Compared with the ground truth annotations, the ensembled results for our artificial intelligence framework for the pyramidal scene-parsing network during testing generated a total pixel accuracy of 91.8%., Conclusion: Using the presented methods, we show that a convolutional neural network can accurately segment gross neuroanatomy images, which represents an initial foundation in artificial intelligence gross neuroanatomy that will aid future neurosurgical training. These results also suggest that our network is sufficiently robust, to an unprecedented level, for performing anatomic category recognition in a clinical setting., (Copyright © Congress of Neurological Surgeons 2022. All rights reserved.)

Surgery for pineal region tumors is technically challenging due to their deep location and close proximity to critical deep venous structures, midbrain, and thalamus. A high-definition video exoscope was recently proposed as an alternative to the operating microscope. The authors illustrate a case of the midline supracerebellar infratentorial approach to resect a pineal region tumor using the Modus V exoscope and demonstrate the improved visualization of critical structures in this deep location. Additionally, the marked improvement in surgeon comfort suggests that this system may have significant advantages over traditional microscope-based surgery for tumors of the pineal region. The video can be found here: https://stream.cadmore.media/r10.3171/2021.4.FOCVID2127., Competing Interests: Disclosures Dr. Shah is a consultant for Synaptive Medical., (© 2021, The Authors.)

Background: A detailed and accurate understanding of the intrinsic brainstem anatomy and the interrelationship between its internal tracts and nuclei and external landmarks is of paramount importance for safe and effective brainstem surgery. Using anatomical models can be an important step in increasing such understanding. In the present study, we have shown the applicability of our developed virtual 3-dimensional (3D) model in depicting the safe entry zones (SEZs) to the brainstem., Methods: Accurate 3D virtual models of brainstem elements were created using high-resolution magnetic resonance imaging and computed tomography to depict the brainstem SEZs., Results: All the described SEZs to different parts of the brainstem were successfully depicted using our 3D virtual models., Conclusions: The virtual models provide an immersive experience of brainstem anatomy, allowing users to understand the intricacies of the microdissection that is necessary to appropriately work through the brainstem nuclei and tracts toward a particular target. The models provide an unparalleled learning environment to understand the SEZs into the brainstem that can be used for training and research., (Copyright © 2020 Elsevier Inc. All rights reserved.)

Protein post-translational modifications (PTMs) serve to give proteins new cellular functions and can influence spatial distribution and enzymatic activity, greatly enriching the complexity of the proteome. Lipidation is a PTM that regulates protein stability, function, and subcellular localization. To complement advances in proteomic identification of lipidated proteins, we have developed a method to image the spatial distribution of proteins that have been co- and post-translationally modified via the addition of myristic acid (Myr) to the N terminus. In this work, we use a Myr analog, 12-azidododecanoic acid (12-ADA), to facilitate fluorescent detection of myristoylated proteins in vitro and in vivo. The azide moiety of 12-ADA does not react to natural biological chemistries, but is selectively reactive with alkyne functionalized fluorescent dyes. We find that the spatial distribution of myristoylated proteins varies dramatically between undifferentiated and differentiated muscle cells in vitro. Further, we demonstrate that our methodology can visualize the distribution of myristoylated proteins in zebrafish muscle in vivo. Selective protein labeling with noncanonical fatty acids, such as 12-ADA, can be used to determine the biological function of myristoylation and other lipid-based PTMs and can be extended to study deregulated protein lipidation in disease states., (Copyright © 2017 by the American Society for Biochemistry and Molecular Biology, Inc.)

Analysis of the developing proteome has been complicated by a lack of tools that can be easily employed to label and identify newly synthesized proteins within complex biological mixtures. Here, we demonstrate that the methionine analogs azidohomoalanine and homopropargylglycine can be globally incorporated into the proteome of mice through facile intraperitoneal injections. These analogs contain bio-orthogonal chemical handles to which fluorescent tags can be conjugated to identify newly synthesized proteins. We show these non-canonical amino acids are incorporated into various tissues in juvenile mice and in a concentration dependent manner. Furthermore, administration of these methionine analogs to pregnant dams during a critical stage of murine development, E10.5-12.5 when many tissues are assembling, does not overtly disrupt development as assessed by proteomic analysis and normal parturition and growth of pups. This successful demonstration that non-canonical amino acids can be directly administered in vivo will enable future studies that seek to characterize the murine proteome during growth, disease and repair.