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school:SOM

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Neuroendovascular surgery

Riina, Howard A
Neuroendovascular surgery and interventional neuroradiology both describe the catheter-based (most often) endovascular diagnosis and treatment of vascular lesions affecting the brain and spinal cord. This article traces the evolution of these techniques and their current role as the dominant and frequently standard approach for many of these conditions. The article also discusses the important changes that have been brought to bear on open cerebrovascular neurosurgery by neuroendovascular surgery and their effects on resident and fellow training and describes new concepts for clinical care.
PMID: 31786544
ISSN: 1933-0693
CID: 4636242

Reply: Dynamic functional connectivity changes in Lewy body disease [Letter]

Biundo, Roberta; Fiorenzato, Eleonora; Antonini, Angelo
PMID: 31605474
ISSN: 1460-2156
CID: 4145642

GOPC-ROS1 Fusion Due to Microdeletion at 6q22 Is an Oncogenic Driver in a Subset of Pediatric Gliomas and Glioneuronal Tumors

Richardson, Timothy E; Tang, Karen; Vasudevaraja, Varshini; Serrano, Jonathan; William, Christopher M; Mirchia, Kanish; Pierson, Christopher R; Leonard, Jeffrey R; AbdelBaki, Mohamed S; Schieffer, Kathleen M; Cottrell, Catherine E; Tovar-Spinoza, Zulma; Comito, Melanie A; Boué, Daniel R; Jour, George; Snuderl, Matija
ROS1 is a transmembrane receptor tyrosine kinase proto-oncogene that has been shown to have rearrangements with several genes in glioblastoma and other neoplasms, including intrachromosomal fusion with GOPC due to microdeletions at 6q22.1. ROS1 fusion events are important findings in these tumors, as they are potentially targetable alterations with newer tyrosine kinase inhibitors; however, whether these tumors represent a distinct entity remains unknown. In this report, we identify 3 cases of unusual pediatric glioma with GOPC-ROS1 fusion. We reviewed the clinical history, radiologic and histologic features, performed methylation analysis, whole genome copy number profiling, and next generation sequencing analysis for the detection of oncogenic mutation and fusion events to fully characterize the genetic and epigenetic alterations present in these tumors. Two of 3 tumors showed pilocytic features with focal expression of synaptophysin staining and variable high-grade histologic features; the third tumor aligned best with glioblastoma and showed no evidence of neuronal differentiation. Copy number profiling revealed chromosome 6q22 microdeletions corresponding to the GOPC-ROS1 fusion in all 3 cases and methylation profiling showed that the tumors did not cluster together as a single entity or within known methylation classes by t-Distributed Stochastic Neighbor Embedding.
PMID: 31626289
ISSN: 1554-6578
CID: 4140722

Reflex micturition defecation epilepsy in Angelman syndrome [Case Report]

Pellinen, Jacob; Hasan, Hunaid; Ortiz, Nidia; Bluvstein, Judith; Miles, Daniel
PMCID:6927446
PMID: 32042494
ISSN: 2163-0402
CID: 4311462

Plasma tau complements CSF tau and P-tau in the diagnosis of Alzheimer's disease

Fossati, Silvia; Ramos Cejudo, Jaime; Debure, Ludovic; Pirraglia, Elizabeth; Sone, Je Yeong; Li, Yi; Chen, Jingyun; Butler, Tracy; Zetterberg, Henrik; Blennow, Kaj; de Leon, Mony J
Introduction/UNASSIGNED:Plasma tau may be an accessible biomarker for Alzheimer's disease (AD), but the correlation between plasma and cerebrospinal fluid (CSF) tau and the value of combining plasma tau with CSF tau and phospho-tau (P-tau) are still unclear. Methods/UNASSIGNED:Plasma-tau, CSF-tau, and P-tau were measured in 97 subjects, including elderly cognitively normal controls (n = 68) and patients with AD (n = 29) recruited at the NYU Center for Brain Health, with comprehensive neuropsychological and magnetic resonance imaging evaluations. Results/UNASSIGNED: < .001, area under the receiver operating characteristic curve = 0.79) similarly to CSF tau and CSF P-tau and was negatively correlated with cognition in AD. Plasma and CSF tau measures were poorly correlated. Adding plasma tau to CSF tau or CSF P-tau significantly increased the areas under the receiver operating characteristic curve from 0.80 and 0.82 to 0.87 and 0.88, respectively. Discussion/UNASSIGNED:Plasma tau is higher in AD independently from CSF-tau. Importantly, adding plasma tau to CSF tau or P-tau improves diagnostic accuracy, suggesting that plasma tau may represent a useful biomarker for AD, especially when added to CSF tau measures.
PMCID:6624242
PMID: 31334328
ISSN: 2352-8729
CID: 3986922

Intraoperative mapping and monitoring of sensory vagal fibers during vagal schwannoma resection [Case Report]

Sinclair, Catherine F; Téllez, Maria J; Sánchez Roldán, M Angeles; Urken, Mark; Ulkatan, Sedat
Vagal schwannomas are rare, benign tumors. Intermittent intraoperative neuromonitoring via selective stimulation of splayed motor fibers running on the schwannoma surface to elicit a compound muscle action potential has been previously reported as a method of preserving vagal motor fibers. In this case report, vagal sensory fibers are mapped and continuously monitored intraoperatively during high vagus schwannoma resection using the laryngeal adductor reflex (LAR). Mapping of nerve fibers on the schwannoma surface enabled identification of sensory fibers. Continuous LAR monitoring during schwannoma subcapsular microsurgical dissection enabled sensory (and motor) vagal fibers to be monitored in real time with excellent postoperative functional outcomes. Laryngoscope, 2019.
PMID: 31211430
ISSN: 1531-4995
CID: 4144722

Reply to: "Parkinson disease-associated dyskinesia in countries with low access to levodopa-sparing Regimens" [Letter]

Chaudhuri, K Ray; Jenner, Peter; Antonini, Angelo
PMID: 31845760
ISSN: 1531-8257
CID: 4242392

Corrigendum to "Polyvascular subclinical atherosclerosis in familial hypercholesterolemia: The role of cholesterol burden and gender" [Nutr Metab Cardiovasc Dis 29 (2019) 1068-1076]

Mattina, Alessandro; Giammanco, Antonina; Giral, Philippe; Rosenbaum, David; Carrié, Alain; Cluzel, Philippe; Redheuil, Alban; Bittar, Randa; Béliard, Sophie; Noto, Davide; Quartarone, Angelo; Averna, Maurizio; Bruckert, Éric; Gallo, Antonio
PMID: 31648887
ISSN: 1590-3729
CID: 4161752

Outer Retinal Thickness and Fundus Autofluorescence in Geographic Atrophy

Wang, Diane L; Agee, Julia; Mazzola, Marco; Sacconi, Riccardo; Querques, Giuseppe; Weinberg, Alan D; Smith, R Theodore
PURPOSE/OBJECTIVE:Most studies of fundus autofluorescence (FAF) in geographic atrophy (GA) have been nonquantitative, with inadequate registration of image modalities. Furthermore, as pointed out in the recent Consensus Definition for Atrophy Associated with Age-Related Macular Degeneration on OCT, it is unclear whether decreased FAF would be correlated exclusively with a single category of OCT-defined atrophy. We sought to determine how FAF intensity in eyes with GA correlates with structural changes of the outer retina and choroid as seen on co-registered spectral domain OCT (SD-OCT) images. DESIGN/METHODS:Retrospective cross-sectional. PARTICIPANTS/METHODS:Twenty eyes of 11 patients with GA secondary to non-neovascular age-related macular degeneration (AMD). METHODS:Spectral domain OCT and FAF images for each eye were co-registered using MATLAB (MathWorks Inc, Natick, MA). On B-scans, the choroid, retinal pigment epithelium (RPE), photoreceptor (PR) layer, and outer nuclear layer (ONL) were segmented. Regions of interest (ROIs) including all atrophic and border regions were selected manually on the FAF scans. Regions of interest were subdivided into quartiles of FAF level to correlate with retinal thickness measurements taken along the B-scans. Mean choroid, RPE, PR, and ONL thicknesses were compared across quartiles using an analysis of variance factorial design testing for interaction effects, adjusted for repeated measures (on both eyes) with a within-subjects factor. RESULTS:Seventeen eyes of 10 patients were selected for analysis. The mean choroidal thicknesses were not significantly different across FAF quartiles, but the overall differences in mean RPE, PR layer, and ONL thicknesses across quartiles were statistically significant (analysis of variance, P < 0.001, P < 0.001, and P = 0.015, respectively). Post hoc analysis demonstrated significant differences in thickness among quartiles 1, 2, and 3 for the RPE and PR layers (Tukey, P < 0.01 in each case). The FAF quartiles within GA did not correlate exclusively with single categories of Consensus Definition for Atrophy Associated with Age-Related Macular Degeneration-defined atrophy. CONCLUSIONS:Not only RPE but also PR layer thickness on SD-OCT varies significantly with FAF levels in GA. This suggests that although the RPE cells are losing thickness and function, evidenced by decreased FAF from fluorophores, delicate PR cells also succumb early in the disease process. These relationships should be pursued as a possibly better-detailed mechanism in GA.
PMID: 31810572
ISSN: 2468-7219
CID: 4221062

Urinary retention discriminates multiple system atrophy from Parkinson's disease [Letter]

Fanciulli, Alessandra; Goebel, Georg; Lazzeri, Giulia; Granata, Roberta; Kiss, Gusztav; Strano, Stefano; Colosimo, Carlo; Pontieri, Francesco E; Kaufmann, Horacio; Seppi, Klaus; Poewe, Werner; Wenning, Gregor K
PMID: 31710392
ISSN: 1531-8257
CID: 4186762