2022
Angiographic 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 evidencePatientsArtery
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 nomenclatureDIAPH1 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 hospitalsA 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 melatonin
2020
Exome 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 typesWorse overall health status negatively impacts satisfaction with breast reconstruction
Mehta SK, Olawoyin O, Chouairi F, Duy PQ, Mets EJ, Gabrick KS, Le NK, Avraham T, Alperovich M. Worse overall health status negatively impacts satisfaction with breast reconstruction. Journal Of Plastic Reconstructive & Aesthetic Surgery 2020, 73: 2056-2062. PMID: 32972879, DOI: 10.1016/j.bjps.2020.08.093.Peer-Reviewed Original ResearchConceptsBREAST-Q scoresPatient-reported outcomesOverall health statusBreast reconstructionOverall healthASA classificationHealth statusGeneral linear modelAnesthesiologists physical status classificationYale-New Haven HospitalWorse overall health statusBREAST-Q outcomesHealth-related qualityPhysical status classificationNew Haven HospitalEffect of ASAASA 1Independent predictorsPatient factorsPostoperative satisfactionBreast surgeryPatient satisfactionASA 2PatientsRelevant covariates