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
2022
Proteomic differences in hippocampus and cortex of sudden unexplained death in childhood
Leitner DF, William C, Faustin A, Askenazi M, Kanshin E, Snuderl M, McGuone D, Wisniewski T, Ueberheide B, Gould L, Devinsky O. Proteomic differences in hippocampus and cortex of sudden unexplained death in childhood. Acta Neuropathologica 2022, 143: 585-599. PMID: 35333953, PMCID: PMC8953962, DOI: 10.1007/s00401-022-02414-7.Peer-Reviewed Original ResearchConceptsSudden unexplained deathDentate gyrusFrontal cortexClinical historyCA1-3Unexplained deathBrain regionsSudden unexpected deathHippocampal dentate gyrusFebrile seizure historyAcute phase responseCause of deathYears of ageMechanism of deathCircumstances of deathSUDC casesMolecular signaling pathwaysClinical featuresSeizure historyPathological featuresMultiple etiologiesCornu ammonisUnexpected deathPreventive strategiesAncillary testing
2021
Blinded review of hippocampal neuropathology in sudden unexplained death in childhood reveals inconsistent observations and similarities to explained paediatric deaths
Leitner DF, McGuone D, William C, Faustin A, Askenazi M, Snuderl M, Guzzetta M, Jarrell HS, Maloney K, Reichard R, Smith C, Weedn V, Wisniewski T, Gould L, Devinsky O. Blinded review of hippocampal neuropathology in sudden unexplained death in childhood reveals inconsistent observations and similarities to explained paediatric deaths. Neuropathology And Applied Neurobiology 2021, 48: e12746. PMID: 34164845, PMCID: PMC8777468, DOI: 10.1111/nan.12746.Peer-Reviewed Original ResearchConceptsCause of deathSudden unexplained deathHippocampal findingsUnexplained deathBlinded reviewersFebrile seizure historyGranule cell lossForensic pathologistsBoard-certified forensic pathologistsHippocampal histologyHippocampal maldevelopmentFebrile seizuresHippocampal neuropathologyHippocampal sectionsPyramidal neuronsSeizure historyPediatric deathsChildhood casesSudden deathImmunohistological markersBlinded reviewNormal rangeCell lossLarger studySUDCSeizure‐related deaths in children: The expanding spectrum
Harowitz J, Crandall L, McGuone D, Devinsky O. Seizure‐related deaths in children: The expanding spectrum. Epilepsia 2021, 62: 570-582. PMID: 33586153, PMCID: PMC7986159, DOI: 10.1111/epi.16833.Peer-Reviewed Original ResearchConceptsSeizure-related deathSudden unexpected infant deathSudden unexplained deathUnexpected infant deathEpileptic factorsMale predominanceNonfebrile seizuresHippocampal abnormalitiesFetal lossProne positionUnexplained deathUnexpected deathFamily historyNeuronal excitabilityInfant deathUnwitnessed deathsEpidemiological studiesEpilepsy shareEpilepsy diagnosisDeathGenetic featuresSeizuresChildrenPotential causesFebrile
2020
Large-scale second-hit AIP deletion causing a pediatric growth hormone-secreting pituitary adenoma: Case report and review of literature
Gummadavelli A, Dinauer C, McGuone D, Vining EM, Erson-Omay EZ, Omay SB. Large-scale second-hit AIP deletion causing a pediatric growth hormone-secreting pituitary adenoma: Case report and review of literature. Journal Of Clinical Neuroscience 2020, 78: 420-422. PMID: 32336638, DOI: 10.1016/j.jocn.2020.04.103.Peer-Reviewed Original ResearchNeuropathologic 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