2022
A neural stem cell paradigm of pediatric hydrocephalus
Duy PQ, Rakic P, Alper SL, Robert SM, Kundishora AJ, Butler WE, Walsh CA, Sestan N, Geschwind DH, Jin SC, Kahle KT. A neural stem cell paradigm of pediatric hydrocephalus. Cerebral Cortex 2022, 33: 4262-4279. PMID: 36097331, PMCID: PMC10110448, DOI: 10.1093/cercor/bhac341.Peer-Reviewed Original ResearchConceptsPediatric hydrocephalusPrimary treatment strategyOptimal surgical managementDevelopmental brain malformationsAnimal model studiesSurgical managementCerebral ventricleCSF diversionVentricular distentionHydrocephalic childrenTreatment strategiesBrain malformationsNeurodevelopmental disabilitiesGerminal neuroepitheliumHydrocephalusStem cell paradigmNeural stem cell fateRecent human geneticBrain surgeryCSF circulationBrain ventriclesCSF volumeNeuroprogenitor cellsBrain defectsCSF homeostasisCellular recovery after prolonged warm ischaemia of the whole body
Andrijevic D, Vrselja Z, Lysyy T, Zhang S, Skarica M, Spajic A, Dellal D, Thorn SL, Duckrow RB, Ma S, Duy PQ, Isiktas AU, Liang D, Li M, Kim SK, Daniele SG, Banu K, Perincheri S, Menon MC, Huttner A, Sheth KN, Gobeske KT, Tietjen GT, Zaveri HP, Latham SR, Sinusas AJ, Sestan N. Cellular recovery after prolonged warm ischaemia of the whole body. Nature 2022, 608: 405-412. PMID: 35922506, PMCID: PMC9518831, DOI: 10.1038/s41586-022-05016-1.Peer-Reviewed Original ResearchConceptsSingle-nucleus transcriptomic analysesSpecific gene expression patternsCellular recoveryGene expression patternsCellular processesMammalian cellsTranscriptomic analysisLarge mammalsExpression patternsCellular repair processesCell deathComprehensive resourceUnderappreciated potentialPhysiological challengesTissue integrityRepair processSpecific changesPorcine brainMammalsOrgansMultiple organsMolecular genetics of human developmental neurocranial anomalies: towards “precision surgery”
Duy PQ, Timberlake AT, Lifton RP, Kahle KT. Molecular genetics of human developmental neurocranial anomalies: towards “precision surgery”. Cerebral Cortex 2022, 33: 2912-2918. PMID: 35739418, PMCID: PMC10016031, DOI: 10.1093/cercor/bhac249.Peer-Reviewed Original ResearchConceptsFuture clinical trialsSurgical treatmentClinical trialsCongenital hydrocephalusWhole-exome sequencing studiesDisease classification systemDevelopmental anomaliesNeuropsychiatric diseasesNonsyndromic craniosynostosisGenetic counselingPrecision surgeryHuman brainNovel disease genesClassification systemMolecular nomenclatureSequencing studiesHydrocephalusSurgeryPathogenesisTherapyMolecular geneticsPrognosticationDiseaseTrialsBrainRare pathogenic variants in WNK3 cause X-linked intellectual disability
Küry S, Zhang J, Besnard T, Caro-Llopis A, Zeng X, Robert SM, Josiah SS, Kiziltug E, Denommé-Pichon AS, Cogné B, Kundishora AJ, Hao LT, Li H, Stevenson RE, Louie RJ, Deb W, Torti E, Vignard V, McWalter K, Raymond FL, Rajabi F, Ranza E, Grozeva D, Coury SA, Blanc X, Brischoux-Boucher E, Keren B, Õunap K, Reinson K, Ilves P, Wentzensen IM, Barr EE, Guihard SH, Charles P, Seaby EG, Monaghan KG, Rio M, van Bever Y, van Slegtenhorst M, Chung WK, Wilson A, Quinquis D, Bréhéret F, Retterer K, Lindenbaum P, Scalais E, Rhodes L, Stouffs K, Pereira EM, Berger SM, Milla SS, Jaykumar AB, Cobb MH, Panchagnula S, Duy PQ, Vincent M, Mercier S, Gilbert-Dussardier B, Le Guillou X, Audebert-Bellanger S, Odent S, Schmitt S, Boisseau P, Bonneau D, Toutain A, Colin E, Pasquier L, Redon R, Bouman A, Rosenfeld JA, Friez MJ, Pérez-Peña H, Akhtar Rizvi SR, Haider S, Antonarakis SE, Schwartz CE, Martínez F, Bézieau S, Kahle KT, Isidor B. Rare pathogenic variants in WNK3 cause X-linked intellectual disability. Genetics In Medicine 2022, 24: 1941-1951. PMID: 35678782, DOI: 10.1016/j.gim.2022.05.009.Peer-Reviewed Original ResearchConceptsPathogenic missense variantsMissense variantsIntellectual disabilityCation-chloride cotransportersGenome sequenceCatalytic domainInhibitory phosphorylationStructural brain abnormalitiesStructural brain defectsRare pathogenic variantsLarge familyWNK3Synaptic inhibitionCotransporter KCC2Brain abnormalitiesRare formPathogenic mechanismsDifferent familiesSporadic formsPathogenic variantsBrain defectsUnrelated familiesAffected individualsKCC2EpilepsyAngiographic Pulse Wave Coherence in the Human Brain
Koch MJ, Duy PQ, Grannan BL, Patel AB, Raymond SB, Agarwalla PK, Kahle KT, Butler WE. Angiographic Pulse Wave Coherence in the Human Brain. Frontiers In Bioengineering And Biotechnology 2022, 10: 873530. PMID: 35592552, PMCID: PMC9110661, DOI: 10.3389/fbioe.2022.873530.Peer-Reviewed Original ResearchCerebral angiogramDiagnostic cerebral angiogramIntact human brainHuman brainRigid craniumPathophysiologic disturbancesArterial anatomyVenous bloodStroke volumeArterial bloodCardiac ratePhysiologic mechanismsHuman patientsNeurological pathologiesEquivalent volumePulse waveBrainAngiogramsCardiac cycleBloodFluoroscopic imagesVolume displacementFirst direct evidencePatientsArteryImpaired neurogenesis alters brain biomechanics in a neuroprogenitor-based genetic subtype of congenital hydrocephalus
Duy PQ, Weise SC, Marini C, Li XJ, Liang D, Dahl PJ, Ma S, Spajic A, Dong W, Juusola J, Kiziltug E, Kundishora AJ, Koundal S, Pedram MZ, Torres-Fernández LA, Händler K, De Domenico E, Becker M, Ulas T, Juranek SA, Cuevas E, Hao LT, Jux B, Sousa AMM, Liu F, Kim SK, Li M, Yang Y, Takeo Y, Duque A, Nelson-Williams C, Ha Y, Selvaganesan K, Robert SM, Singh AK, Allington G, Furey CG, Timberlake AT, Reeves BC, Smith H, Dunbar A, DeSpenza T, Goto J, Marlier A, Moreno-De-Luca A, Yu X, Butler WE, Carter BS, Lake EMR, Constable RT, Rakic P, Lin H, Deniz E, Benveniste H, Malvankar NS, Estrada-Veras JI, Walsh CA, Alper SL, Schultze JL, Paeschke K, Doetzlhofer A, Wulczyn FG, Jin SC, Lifton RP, Sestan N, Kolanus W, Kahle KT. Impaired neurogenesis alters brain biomechanics in a neuroprogenitor-based genetic subtype of congenital hydrocephalus. Nature Neuroscience 2022, 25: 458-473. PMID: 35379995, PMCID: PMC9664907, DOI: 10.1038/s41593-022-01043-3.Peer-Reviewed Original ResearchConceptsCongenital hydrocephalusCerebral ventricular dilatationPrimary defectNeuroepithelial cell differentiationRisk genesCerebrospinal fluid homeostasisWhole-exome sequencingNeuroepithelial stem cellsCortical hypoplasiaReduced neurogenesisVentricular dilatationVentricular enlargementCH mutationsPrenatal hydrocephalusDisease heterogeneityBrain surgeryCSF circulationHydrocephalusGenetic subtypesFluid homeostasisNeuroepithelial cellsNovo mutationsBrain transcriptomicsStem cellsCell differentiationBrain ventricles as windows into brain development and disease
Duy PQ, Rakic P, Alper SL, Butler WE, Walsh CA, Sestan N, Geschwind DH, Jin SC, Kahle KT. Brain ventricles as windows into brain development and disease. Neuron 2022, 110: 12-15. PMID: 34990576, PMCID: PMC9212067, DOI: 10.1016/j.neuron.2021.12.009.Peer-Reviewed Original Research
2021
Genomic approaches to improve the clinical diagnosis and management of patients with congenital hydrocephalus.
Allington G, Duy PQ, Ryou J, Singh A, Kiziltug E, Robert SM, Kundishora AJ, King S, Haider S, Kahle KT, Jin SC. Genomic approaches to improve the clinical diagnosis and management of patients with congenital hydrocephalus. Journal Of Neurosurgery Pediatrics 2021, 29: 168-177. PMID: 34715668, DOI: 10.3171/2021.8.peds21368.Peer-Reviewed Original ResearchManagement of patientsCongenital hydrocephalusFuture clinical trialsCongenital brain disordersOutcome prognosticationUnderlying pathogenesisClinical trialsCurative strategiesTreatment stratificationIncomplete clearanceDiagnostic adjunctPatient benefitClinical practiceBrain disordersBrain ventriclesClinical diagnosisGenetic counselingHuman genetic studiesHydrocephalusPatientsPathogenesisNeurosurgical communitySubsequent enlargementRecent findingsMolecular nomenclaturePTEN mutations in autism spectrum disorder and congenital hydrocephalus: developmental pleiotropy and therapeutic targets
DeSpenza T, Carlson M, Panchagnula S, Robert S, Duy PQ, Mermin-Bunnell N, Reeves BC, Kundishora A, Elsamadicy AA, Smith H, Ocken J, Alper SL, Jin SC, Hoffman EJ, Kahle KT. PTEN mutations in autism spectrum disorder and congenital hydrocephalus: developmental pleiotropy and therapeutic targets. Trends In Neurosciences 2021, 44: 961-976. PMID: 34625286, PMCID: PMC8692171, DOI: 10.1016/j.tins.2021.08.007.Peer-Reviewed Original ResearchConceptsDevelopmental pleiotropyPTEN-PI3KMTOR pathwayMolecular pathophysiologyPTEN mutationsMolecular similarityTherapeutic targetCommon underlying mechanismNeurodevelopmental disordersUnderlying mechanismTherapeutic promisePleiotropyBiologyPhenotypicMutationsLimited understandingPathwayCommon neurodevelopmental disorderAutism spectrum disorderSimilarityTargetDIAPH1 Variants in Non–East Asian Patients With Sporadic Moyamoya Disease
Kundishora AJ, Peters ST, Pinard A, Duran D, Panchagnula S, Barak T, Miyagishima DF, Dong W, Smith H, Ocken J, Dunbar A, Nelson-Williams C, Haider S, Walker RL, Li B, Zhao H, Thumkeo D, Marlier A, Duy PQ, Diab NS, Reeves BC, Robert SM, Sujijantarat N, Stratman AN, Chen YH, Zhao S, Roszko I, Lu Q, Zhang B, Mane S, Castaldi C, López-Giráldez F, Knight JR, Bamshad MJ, Nickerson DA, Geschwind DH, Chen SL, Storm PB, Diluna ML, Matouk CC, Orbach DB, Alper SL, Smith ER, Lifton RP, Gunel M, Milewicz DM, Jin SC, Kahle KT. DIAPH1 Variants in Non–East Asian Patients With Sporadic Moyamoya Disease. JAMA Neurology 2021, 78: 993-1003. PMID: 34125151, PMCID: PMC8204259, DOI: 10.1001/jamaneurol.2021.1681.Peer-Reviewed Original ResearchConceptsSporadic moyamoya diseaseMoyamoya diseaseValidation cohortDiscovery cohortIntracranial internal carotid arteryRisk genesBilateral moyamoya diseaseTransfusion-dependent thrombocytopeniaLarger validation cohortNon-East Asian patientsInternal carotid arteryAsian individualsCompound heterozygous variantsNon-East AsiansProgressive vasculopathyTransmitted variantsAsian patientsChildhood strokeMedical recordsCarotid arteryTherapeutic ramificationsMAIN OUTCOMEMouse brain tissuePatientsUS hospitalsGenomics of human congenital hydrocephalus
Kundishora AJ, Singh AK, Allington G, Duy PQ, Ryou J, Alper SL, Jin SC, Kahle KT. Genomics of human congenital hydrocephalus. Child's Nervous System 2021, 37: 3325-3340. PMID: 34232380, DOI: 10.1007/s00381-021-05230-8.Peer-Reviewed Original ResearchConceptsCongenital hydrocephalusBrain developmentPoor neurodevelopmental outcomesRecent whole-exome sequencing studiesPost-surgical patientsHuman congenital hydrocephalusPathogenesis of hydrocephalusCerebrospinal fluid accumulationDamaging de novoPrimary pathomechanismEarly brain developmentNeural stem cell growthNeurodevelopmental outcomesOutcome prognosticationHuman brain developmentCSF diversionTreatment stratificationWhole-exome sequencing studiesFluid accumulationBrain ventriclesClinical toolHydrocephalusGenetic counselingDisease mechanismsSubstantial minorityInflammatory hydrocephalus
Robert SM, Reeves BC, Marlier A, Duy PQ, DeSpenza T, Kundishora A, Kiziltug E, Singh A, Allington G, Alper SL, Kahle KT. Inflammatory hydrocephalus. Child's Nervous System 2021, 37: 3341-3353. PMID: 34164718, DOI: 10.1007/s00381-021-05255-z.Peer-Reviewed Original ResearchConceptsPost-infectious hydrocephalusImmune cell profilesCerebrospinal fluid diversion techniquesPotential therapeutic vulnerabilitiesImportant protective responseCSF cytokinesProlong diseaseSustained inflammationHigher complicationsPreventable conditionClinical studiesNeurosurgical disordersReparative inflammationDistinct etiologiesHuman patientsHydrocephalusCell profilesProtective responseTherapeutic vulnerabilitiesPhysical irritantsCommon formInflammationDiversion techniquesDisordersFailure rateIntraventricular CSF Turbulence in Pediatric Communicating Hydrocephalus
Duy PQ, Kahle KT. Intraventricular CSF Turbulence in Pediatric Communicating Hydrocephalus. Neurology 2021, 97: 246-247. PMID: 34031199, PMCID: PMC8589266, DOI: 10.1212/wnl.0000000000012237.Peer-Reviewed Original ResearchConceptsProgressive macrocephalyCSF turbulenceLower extremity motor functionDiffuse cortical atrophyExtremity motor functionMild neurocognitive impairmentCommunicating hydrocephalusVentriculoperitoneal shuntCortical atrophyIntracranial hemorrhagePhysical examinationPostoperative imagingComplete resolutionIntracranial pressureMotor functionHead circumferenceOpen myelomeningoceleNeurocognitive impairmentMild decreaseCSF flowVentriculomegalyMacrocephalyExome Sequencing as a Potential Diagnostic Adjunct in Sporadic Congenital Hydrocephalus
Sullivan W, Reeves BC, Duy PQ, Nelson-Williams C, Dong W, Jin SC, Kahle KT. Exome Sequencing as a Potential Diagnostic Adjunct in Sporadic Congenital Hydrocephalus. JAMA Pediatrics 2021, 175: 310-313. PMID: 33196764, PMCID: PMC7670396, DOI: 10.1001/jamapediatrics.2020.4878.Peer-Reviewed Original ResearchA novel signature predicts recurrence risk and therapeutic response in breast cancer patients
Tran QH, Than VT, Luu PL, Clarke D, Lam HN, Nguyen T, Nguyen D, Duy PQ, Phung D, Nguyen MN. A novel signature predicts recurrence risk and therapeutic response in breast cancer patients. International Journal Of Cancer 2021, 148: 2848-2856. PMID: 33586202, DOI: 10.1002/ijc.33512.Peer-Reviewed Original ResearchMeSH KeywordsAcetylserotonin O-MethyltransferaseBreast NeoplasmsDatabases, GeneticFemaleGene Expression ProfilingGene Expression Regulation, NeoplasticHumansNeoplasm GradingOligonucleotide Array Sequence AnalysisRetrospective StudiesSequence Analysis, RNASurvival AnalysisTamoxifenTreatment OutcomeUp-RegulationConceptsBreast cancer patientsAcetylserotonin O-methyltransferaseEndocrine therapyCancer patientsASMT expressionRelapse-free survival outcomesMetastasis-free survival timeLonger metastasis-free survival timesLow-risk casesBreast cancer progressionBreast cancer tumorsAdjuvant chemotherapyOverall survivalTamoxifen treatmentEndocrine resistanceDistance recurrenceMRNA array dataRetrospective studySurvival outcomesTherapeutic responseBreast cancerSurvival timePatientsRecurrence riskSynthesis of melatoninSpine Surgery HCAHPS Patient Satisfaction Survey Results Inversely Correlate with Survey Response Time
Kebaish KJ, Mercier MR, Duy PQ, Malpani R, Galivanche AR, Grauer JN. Spine Surgery HCAHPS Patient Satisfaction Survey Results Inversely Correlate with Survey Response Time. Spine 2021, 46: 1264-1270. PMID: 34435990, DOI: 10.1097/brs.0000000000003974.Peer-Reviewed Original ResearchConceptsHCAHPS surveySurgery patientsSpinal surgery patientsSpine surgery patientsPatient satisfaction surveyHospital Consumer AssessmentPatient satisfaction metricsAcademic medical centerMultivariate regression analysisLower scoresSurvey response timeAnesthesiologists classPatient demographicsPostoperative outcomesRetrospective reviewFunctional statusSpine surgeryBACKGROUND DATAMedical CenterPatient experienceDay 22Day 43Healthcare providersDay 0Reported satisfactionOpioid use and spinal cord stimulation therapy: The long game
Hwang BY, Negoita S, Duy PQ, Tesay Y, Anderson WS. Opioid use and spinal cord stimulation therapy: The long game. Journal Of Clinical Neuroscience 2021, 84: 50-52. PMID: 33485599, DOI: 10.1016/j.jocn.2020.12.004.Peer-Reviewed Original ResearchConceptsMorphine equivalent dosageSpinal cord stimulationSCS implantationOpioid requirementsCertain chronic pain disordersPre-operative risk assessmentSpinal cord stimulation therapyDaily opioid consumptionOpioid consumption patternsOpioid-naïve patientsPre-operative baselineChronic pain disordersRigorous patient selectionPost-operative evaluationOpioid consumptionOpioid statusNaïve patientsOpioid usageMost patientsOpioid useSCS therapyPain disordersPatient selectionTreatment failureCord stimulation
2020
Self-reported health without clinically measurable benefits among adult users of multivitamin and multimineral supplements: a cross-sectional study
Paranjpe MD, Chin AC, Paranjpe I, Reid NJ, Duy PQ, Wang JK, O'Hagan R, Arzani A, Haghdel A, Lim CC, Orhurhu V, Urits I, Ngo AL, Glicksberg BS, Hall KT, Mehta D, Cooper RS, Nadkarni GN. Self-reported health without clinically measurable benefits among adult users of multivitamin and multimineral supplements: a cross-sectional study. BMJ Open 2020, 10: e039119. PMID: 33148746, PMCID: PMC7643504, DOI: 10.1136/bmjopen-2020-039119.Peer-Reviewed Original ResearchConceptsMeasurable health outcomesBetter overall healthHealth outcomesOverall healthChronic diseasesSelf-reported overall healthSelf-rated health statusNational Health Interview SurveyHealth conditionsPsychological distressFunctional health outcomesMultiple clinical trialsCross-sectional studyGeneral adult populationHealth Interview SurveyNon-specific psychological distressBetter health outcomesMeasurable health benefitsSelf-reported healthCross-sectional analysisComplementary health practicesPsychological Distress ScaleNon-institutionalised populationDaily multivitaminMultivitamin useExome sequencing implicates genetic disruption of prenatal neuro-gliogenesis in sporadic congenital hydrocephalus
Jin SC, Dong W, Kundishora AJ, Panchagnula S, Moreno-De-Luca A, Furey CG, Allocco AA, Walker RL, Nelson-Williams C, Smith H, Dunbar A, Conine S, Lu Q, Zeng X, Sierant MC, Knight JR, Sullivan W, Duy PQ, DeSpenza T, Reeves BC, Karimy JK, Marlier A, Castaldi C, Tikhonova IR, Li B, Peña HP, Broach JR, Kabachelor EM, Ssenyonga P, Hehnly C, Ge L, Keren B, Timberlake AT, Goto J, Mangano FT, Johnston JM, Butler WE, Warf BC, Smith ER, Schiff SJ, Limbrick DD, Heuer G, Jackson EM, Iskandar BJ, Mane S, Haider S, Guclu B, Bayri Y, Sahin Y, Duncan CC, Apuzzo MLJ, DiLuna ML, Hoffman EJ, Sestan N, Ment LR, Alper SL, Bilguvar K, Geschwind DH, Günel M, Lifton RP, Kahle KT. Exome sequencing implicates genetic disruption of prenatal neuro-gliogenesis in sporadic congenital hydrocephalus. Nature Medicine 2020, 26: 1754-1765. PMID: 33077954, PMCID: PMC7871900, DOI: 10.1038/s41591-020-1090-2.Peer-Reviewed Original ResearchConceptsCongenital hydrocephalusPoor neurodevelopmental outcomesPost-surgical patientsCerebrospinal fluid accumulationNeural stem cell biologyGenetic disruptionWhole-exome sequencingPrimary pathomechanismEarly brain developmentNeurodevelopmental outcomesHigh morbidityCSF diversionMutation burdenFluid accumulationBrain ventriclesCH casesBrain developmentDe novo mutationsPatientsExome sequencingCSF dynamicsDisease mechanismsHydrocephalusNovo mutationsCell typesSpinal cord stimulation and psychotropic medication use: Missing piece to the puzzle?
Hwang BY, Negoita S, Duy PQ, Anderson WS. Spinal cord stimulation and psychotropic medication use: Missing piece to the puzzle? Journal Of Clinical Neuroscience 2020, 81: 158-160. PMID: 33222907, PMCID: PMC9586422, DOI: 10.1016/j.jocn.2020.09.038.Peer-Reviewed Original ResearchConceptsPsychotropic medicationsSpinal cord stimulator therapyLow explantation rateTimes less likelihoodClasses of medicationsChronic pain managementChronic pain patientsPsychotropic medication useSpinal cord stimulationMajority of casesMedication usePain managementPain patientsDaily dosageTreatment failureCord stimulationDevice explantationRetrospective studySCS patientsExplantation ratePsychotropic useTreatment successMedication statusMedicationsModulatory effects