2024
Raphe and ventrolateral medulla proteomics in sudden unexplained death in childhood with febrile seizure history
Leitner D, William C, Faustin A, Kanshin E, Snuderl M, McGuone D, Wisniewski T, Ueberheide B, Gould L, Devinsky O. Raphe and ventrolateral medulla proteomics in sudden unexplained death in childhood with febrile seizure history. Acta Neuropathologica 2024, 148: 76. PMID: 39607506, PMCID: PMC11604820, DOI: 10.1007/s00401-024-02832-9.Peer-Reviewed Original ResearchConceptsMedullary rapheSudden infant death syndromeVentrolateral medullaFebrile seizuresSudden unexplained deathWeighted gene correlation network analysisDorsal rapheUnexplained deathMidbrain dorsal rapheSUDC casesSignaling pathwayEukaryotic translation initiationGene Ontology biological processesSynaptic vesicle cycleLabel-free quantitative mass spectrometryEukaryotic translation elongationSudden unexpected deathGene correlation network analysisDifferential expression analysisDecreased cellular respirationFebrile seizure historyQuantitative mass spectrometryAutonomic dysfunctionCorrelation network analysisCoagulation system
2023
A systematic review and individual participant data meta-analysis of gonadal steroid hormone receptors in meningioma.
Miyagishima D, Sundaresan V, Gutierrez A, Barak T, Yeung J, Moliterno J, McGuone D, Claus E, Günel M. A systematic review and individual participant data meta-analysis of gonadal steroid hormone receptors in meningioma. Journal Of Neurosurgery 2023, 139: 1638-1647. PMID: 37243565, PMCID: PMC10226381, DOI: 10.3171/2023.3.jns221838.Peer-Reviewed Original ResearchConceptsIndividual participant dataHR statusProgesterone receptorAndrogen receptorEstrogen receptorHormone receptorsFemale patientsParticipant dataSystematic reviewGonadal steroid hormone receptorsRisk of biasGonadal steroid hormonesPubMed literature reviewProper patient stratificationSkull base locationSteroid hormone receptorsHormonal therapyER expressionUnduplicated articlesFemale sexGrade IIndependent associationPatient stratificationConvexity locationStudy heterogeneity
2022
Mononeuritis multiplex as a rare and severe neurological complication of immune checkpoint inhibitors: a case report
Abdelhakim S, Klapholz JD, Roy B, Weiss SA, McGuone D, Corbin ZA. Mononeuritis multiplex as a rare and severe neurological complication of immune checkpoint inhibitors: a case report. Journal Of Medical Case Reports 2022, 16: 81. PMID: 35197122, PMCID: PMC8867751, DOI: 10.1186/s13256-022-03290-1.Peer-Reviewed Original ResearchConceptsImmune checkpoint inhibitorsMononeuritis multiplexCheckpoint inhibitorsCell death protein 1/Cytotoxic T-lymphocyte antigen-4Death ligand 1 (PD-L1) axisDeath protein 1/Immune checkpoint inhibitor therapyT-lymphocyte antigen-4Progressive leg weaknessCheckpoint inhibitor therapyProgressive neurologic dysfunctionSevere neurological complicationsAutoimmune peripheral neuropathyNon-Hispanic white femalesSevere side effectsLigand-1 axisChronic steroidsCombination ipilimumabConclusionsIncreased awarenessIntravenous immunoglobulinNeurological complicationsParaneoplastic syndromeAggressive treatmentInhibitor therapy
2021
Coronavirus Disease 2019 (COVID-19) Coronary Vascular Thrombosis Correlation with Neutrophil but Not Endothelial Activation
Johnson JE, McGuone D, Xu ML, Jane-Wit D, Mitchell RN, Libby P, Pober JS. Coronavirus Disease 2019 (COVID-19) Coronary Vascular Thrombosis Correlation with Neutrophil but Not Endothelial Activation. American Journal Of Pathology 2021, 192: 112-120. PMID: 34599881, PMCID: PMC8479934, DOI: 10.1016/j.ajpath.2021.09.004.Peer-Reviewed Original ResearchConceptsVascular cell adhesion molecule-1Intracellular adhesion molecule-1Adhesion molecule-1Von Willebrand factorEndothelial activationMolecule-1Severe coronavirus disease 2019Neutrophil extracellular trap formationCell adhesion molecule-1COVID-19 cohortCOVID-19 patientsNeutrophil-platelet aggregatesCoronavirus disease 2019Extracellular trap formationCOVID-19Transcription factor p65Extensive thrombosisLymphocytic infiltrationMyocardial injuryThrombotic diathesisInflammatory activationNeutrophil activationCardiovascular diseaseDisease 2019Autopsy tissue
2020
Neuropathologic Changes in Sudden Unexplained Death in Childhood
McGuone D, Leitner D, William C, Faustin A, Leelatian N, Reichard R, Shepherd TM, Snuderl M, Crandall L, Wisniewski T, Devinsky O. Neuropathologic Changes in Sudden Unexplained Death in Childhood. Journal Of Neuropathology & Experimental Neurology 2020, 79: 336-346. PMID: 31995186, PMCID: PMC7036658, DOI: 10.1093/jnen/nlz136.Peer-Reviewed Original ResearchConceptsSudden unexplained deathHippocampal abnormalitiesUnexplained deathHippocampal findingsNumber of seizuresBoard-certified neuropathologistsCause of deathComprehensive case investigationMultiple chromosomal aberrationsSeizure pathogenesisSUDC casesFebrile seizuresHippocampal alterationsMedian ageHistological reviewNeuropathologic changesNeuropathologic investigationDentate gyrusProne positionCommon findingAncillary testingAutopsy dataMolecular testingApparent sleepBrain samples
2019
Polysomy is associated with poor outcome in 1p/19q codeleted oligodendroglial tumors
Chen H, Thomas C, Munoz FA, Alexandrescu S, Horbinski CM, Olar A, McGuone D, Camelo-Piragua S, Wang L, Pentsova E, Phillips J, Aldape K, Chen W, Iafrate AJ, S AS, Zagzag D, Golfinos JG, Placantonakis DG, Rosenblum M, Ohman-Strickland P, Hameed M, Snuderl M. Polysomy is associated with poor outcome in 1p/19q codeleted oligodendroglial tumors. Neuro-Oncology 2019, 21: 1164-1174. PMID: 31140557, PMCID: PMC7571489, DOI: 10.1093/neuonc/noz098.Peer-Reviewed Original ResearchMeSH KeywordsAdolescentAdultAgedAged, 80 and overAneuploidyBrain NeoplasmsChemotherapy, AdjuvantChildChromosomal InstabilityChromosome DeletionChromosomes, Human, Pair 1Chromosomes, Human, Pair 19FemaleHumansIn Situ Hybridization, FluorescenceIsocitrate DehydrogenaseMaleMiddle AgedNeoadjuvant TherapyNeurosurgical ProceduresOligodendrogliomaPrognosisProgression-Free SurvivalRadiotherapy, AdjuvantSurvival RateYoung AdultConceptsProgression-free survivalOverall survivalOligodendroglial tumorsPrognostic significanceBetter progression-free survivalLonger progression-free survivalPolysomic cellsCodeletion of 1p/19qPresence of polysomyEarly recurrenceShorter survivalPoor outcomeEarly progressionPatientsTumorsSurvivalPolysomySitu hybridizationCodeletionChromosomal instabilityCellsGroupPrior studiesStatusRecurrence
2018
Early loss of mitochondrial complex I and rewiring of glutathione metabolism in renal oncocytoma
Gopal RK, Calvo SE, Shih AR, Chaves FL, McGuone D, Mick E, Pierce KA, Li Y, Garofalo A, Van Allen EM, Clish CB, Oliva E, Mootha VK. Early loss of mitochondrial complex I and rewiring of glutathione metabolism in renal oncocytoma. Proceedings Of The National Academy Of Sciences Of The United States Of America 2018, 115: e6283-e6290. PMID: 29915083, PMCID: PMC6142220, DOI: 10.1073/pnas.1711888115.Peer-Reviewed Original Research
2017
Identification of RUNX1 as a Mediator of Aberrant Retinal Angiogenesis
Lam JD, Oh DJ, Wong LL, Amarnani D, Park-Windhol C, Sanchez AV, Cardona-Velez J, McGuone D, Stemmer-Rachamimov AO, Eliott D, Bielenberg DR, van Zyl T, Shen L, Gai X, D'Amore PA, Kim LA, Arboleda-Velasquez JF. Identification of RUNX1 as a Mediator of Aberrant Retinal Angiogenesis. Diabetes 2017, 66: db161035. PMID: 28400392, PMCID: PMC5482092, DOI: 10.2337/db16-1035.Peer-Reviewed Original ResearchMeSH KeywordsAdultAgedAged, 80 and overAnimalsCell MovementCell ProliferationCore Binding Factor Alpha 2 SubunitDiabetes Mellitus, Type 1Diabetes Mellitus, Type 2Diabetic RetinopathyDisease Models, AnimalEndothelial CellsFemaleGlucoseHumansImmunohistochemistryMaleMiceMiddle AgedOxygenRetinaRetinal NeovascularizationRNA, MessengerConceptsAberrant retinal angiogenesisHuman retinal microvascular endothelial cellsProliferative diabetic retinopathyOxygen-induced retinopathyFibrovascular membranesRetinal angiogenesisEndothelial cellsRetinal microvascular endothelial cellsType 2 diabetesRetina of miceMicrovascular endothelial cellsVascular endothelial cellsNeovascular tuftsDiabetic retinopathyTranscription factor 1Common causeRUNX1 inhibitionImmunohistochemical stainingAdult populationHigh glucoseType 1RetinopathyProtein expressionTube formationFactor 1Absence of Alzheimer Disease Neuropathologic Changes in Eyes of Subjects With Alzheimer Disease
Williams EA, McGuone D, Frosch MP, Hyman BT, Laver N, Stemmer-Rachamimov A. Absence of Alzheimer Disease Neuropathologic Changes in Eyes of Subjects With Alzheimer Disease. Journal Of Neuropathology & Experimental Neurology 2017, 76: 376-383. PMID: 28379416, PMCID: PMC7191616, DOI: 10.1093/jnen/nlx020.Peer-Reviewed Original ResearchConceptsAlzheimer's diseaseMacular degenerationΒ-amyloidAlzheimer's disease neuropathologic changeAD-related changesAge-matched controlsEyes of subjectsAD-related featuresSeverity of changesAlzheimer changesNeuropathologic changesPathologic findingsAutopsy casesVisual deficitsCommon causeTDP-43Pathology studiesTau proteinExtracellular depositionΑ-synucleinIntracellular accumulationBrainSimilar changesDegenerationDisease
2016
Leptomeningeal transthyretin-type amyloidosis presenting as acute hydrocephalus and subarachnoid hemorrhage
Bevers MB, McGuone D, Jerath NU, Musolino PL. Leptomeningeal transthyretin-type amyloidosis presenting as acute hydrocephalus and subarachnoid hemorrhage. Journal Of Clinical Neuroscience 2016, 29: 203-205. PMID: 26896372, DOI: 10.1016/j.jocn.2015.12.017.Peer-Reviewed Original Research
2015
Identification of neurotoxic cytokines by profiling Alzheimer’s disease tissues and neuron culture viability screening
Wood LB, Winslow AR, Proctor EA, McGuone D, Mordes DA, Frosch MP, Hyman BT, Lauffenburger DA, Haigis KM. Identification of neurotoxic cytokines by profiling Alzheimer’s disease tissues and neuron culture viability screening. Scientific Reports 2015, 5: 16622. PMID: 26564777, PMCID: PMC4643219, DOI: 10.1038/srep16622.Peer-Reviewed Original ResearchMeSH KeywordsAgedAged, 80 and overAlzheimer DiseaseAmyloid beta-PeptidesBrainCell SurvivalCells, CulturedCytokinesFemaleGene Expression ProfilingGene Regulatory NetworksHumansInflammation MediatorsInterleukin-5Least-Squares AnalysisMaleMiddle AgedMultivariate AnalysisNeuronsRegression AnalysisTumor Necrosis Factor-alphaVascular Endothelial Growth Factor AConceptsCytokine expressionNeuronal deathNeuron culturesAD-associated cytokinesPathologic disease statesDisease tissuesControl brain tissueAlzheimer's disease tissueDisease therapeuticsAlzheimer's disease therapeuticsNeurotoxic cytokinesPro-death effectAD pathogenesisNeuronal viabilityAD tissueAmyloid betaAmyloid hypothesisMinimal efficacyHuman ADSmall cohortPathological severityCytokinesBrain tissueDisease statesVEGFBenign meningiomas (WHO Grade I) with atypical histological features: correlation of histopathological features with clinical outcomes.
Marciscano AE, Stemmer-Rachamimov AO, Niemierko A, Larvie M, Curry WT, Barker FG, Martuza RL, McGuone D, Oh KS, Loeffler JS, Shih HA. Benign meningiomas (WHO Grade I) with atypical histological features: correlation of histopathological features with clinical outcomes. Journal Of Neurosurgery 2015, 124: 106-14. PMID: 26274991, DOI: 10.3171/2015.1.jns142228.Peer-Reviewed Original ResearchMeSH KeywordsAdolescentAdultAgedAged, 80 and overCombined Modality TherapyDisease ProgressionFemaleFollow-Up StudiesHumansKi-67 AntigenMaleMeningiomaMiddle AgedNeoplasm Recurrence, LocalNeurosurgical ProceduresPrognosisRadiotherapy, AdjuvantRetrospective StudiesRisk AssessmentTreatment OutcomeWorld Health OrganizationYoung AdultConceptsAtypical featuresBenign meningiomasWorld Health Organization (WHO) grade I meningiomasSimpson grade IIMIB-1 labeling indexAtypical histological featuresProgression/recurrenceHigh-risk groupStratification of patientsSimpson grade resectionGrade I meningiomasMedian followConclusions PatientsActuarial rateAdditional surgeryClinical outcomesInitial treatmentHistopathological featuresPrognostic significanceHistological factorsHistological featuresGrade IGrade IIPathological diagnosisInclusion criteriaCharacterization of cells from patient-derived fibrovascular membranes in proliferative diabetic retinopathy.
Kim LA, Wong LL, Amarnani DS, Bigger-Allen AA, Hu Y, Marko CK, Eliott D, Shah VA, McGuone D, Stemmer-Rachamimov AO, Gai X, D'Amore PA, Arboleda-Velasquez JF. Characterization of cells from patient-derived fibrovascular membranes in proliferative diabetic retinopathy. Molecular Vision 2015, 21: 673-87. PMID: 26120272, PMCID: PMC4462955.Peer-Reviewed Original ResearchConceptsComparative genomic hybridizationDiscovery of cellsPlasma membrane infoldingsSpecific cell populationsCell identityPrimary culturesCell culture modelCharacterization of cellsMajor chromosomal aberrationsMembrane infoldingsCellular constituentsGenomic hybridizationAlpha-smooth muscle actinThrombospondin-1Cell populationsExpression of markersCulture conditionsStromal cellsPerivascular cellsCulture modelUnique resourceGlial fibrillary acidic protein-positive cellsCellsChromosomal aberrationsEndothelial cellsFailure to detect human papillomavirus in focal cortical dysplasia type IIb
Shapiro KA, McGuone D, Deshpande V, Sadow PM, Stemmer-Rachamimov A, Staley KJ. Failure to detect human papillomavirus in focal cortical dysplasia type IIb. Annals Of Neurology 2015, 78: 63-67. PMID: 25893423, DOI: 10.1002/ana.24422.Peer-Reviewed Original ResearchConceptsFocal cortical dysplasia type IIbFocal cortical dysplasiaHPV infectionCortical dysplasiaSurgical centersAbsence of HPVType IIBSingle surgical centerHuman papillomavirus 16Situ hybridizationHPV 16Human papillomavirusPolymerase chain reactionSurgical specimensDNA polymerase chain reactionIndependent cohortViral infectionFetal developmentPathological specimensInfectionCausative agentChain reactionCausal roleHPVDysplasiaThe Subventricular Zone in the Immature Piglet Brain: Anatomy and Exodus of Neuroblasts into White Matter after Traumatic Brain Injury
Costine BA, Missios S, Taylor SR, McGuone D, Smith CM, Dodge CP, Harris BT, Duhaime AC. The Subventricular Zone in the Immature Piglet Brain: Anatomy and Exodus of Neuroblasts into White Matter after Traumatic Brain Injury. Developmental Neuroscience 2015, 37: 115-130. PMID: 25678047, PMCID: PMC4406780, DOI: 10.1159/000369091.Peer-Reviewed Original ResearchConceptsTraumatic brain injurySubventricular zoneWhite matterWhite matter tractsNumber of neuroblastsPostnatal neurogenesisBrain injuryEffects of TBICortical impact modelPostnatal day 14Human infantsGyral white matterNeurogenic precursor cellsYounger age groupsMonths of ageSVZ areaPND 7Contralateral hemisphereGyrencephalic brainGyrencephalic speciesPiglet brainLesion siteLarge lesionsLesion sizeDay 14
2013
Case 18-2013 — A 32-Year-Old Woman with Recurrent Episodes of Altered Consciousness
Cabot R, Harris N, Rosenberg E, Shepard J, Cort A, Ebeling S, McDonald E, Cole A, Eskandar E, Mela T, Noebels J, Gonzalez R, McGuone D. Case 18-2013 — A 32-Year-Old Woman with Recurrent Episodes of Altered Consciousness. New England Journal Of Medicine 2013, 368: 2304-2312. PMID: 23758236, DOI: 10.1056/nejmcpc1215969.Peer-Reviewed Original Research
2011
Autopsy-confirmed, co-existent CADASIL and multiple system atrophy
Rice C, McGuone D, Kurian K, Love S, Renowden S, Giffin N. Autopsy-confirmed, co-existent CADASIL and multiple system atrophy. Parkinsonism & Related Disorders 2011, 17: 390-392. PMID: 21316291, DOI: 10.1016/j.parkreldis.2011.01.004.Peer-Reviewed Original Research