2022
Rare 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 individualsKCC2Epilepsy
2021
DIAPH1 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 hospitalsOpioid 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 effectsLight Has Diverse Spatiotemporal Molecular Changes in the Mouse Suprachiasmatic Nucleus
Duy PQ, Komal R, Richardson MES, Hahm KS, Fernandez DC, Hattar S. Light Has Diverse Spatiotemporal Molecular Changes in the Mouse Suprachiasmatic Nucleus. Journal Of Biological Rhythms 2020, 35: 576-587. PMID: 33030409, PMCID: PMC10046259, DOI: 10.1177/0748730420961214.Peer-Reviewed Original ResearchAntiepileptic drug withdrawal and seizure severity in the epilepsy monitoring unit
Duy PQ, Krauss GL, Crone NE, Ma M, Johnson EL. Antiepileptic drug withdrawal and seizure severity in the epilepsy monitoring unit. Epilepsy & Behavior 2020, 109: 107128. PMID: 32417383, DOI: 10.1016/j.yebeh.2020.107128.Peer-Reviewed Original ResearchConceptsEpilepsy monitoring unitBilateral tonic-clonic seizuresSevere seizure typeTonic-clonic seizuresFocal seizuresSeizure typesAED doseLorazepam administrationAntiepileptic drug reductionAntiepileptic drug withdrawalDrug withdrawal ratesReceiver-operating characteristic curveRisk of complicationsAED dosageAED withdrawalEMU stayConsecutive patientsSeizure clustersAED reductionDrug withdrawalSeizure severityPresurgical patientsDrug reductionSeizuresEffective doseRetinal innervation tunes circuits that drive nonphotic entrainment to food
Fernandez DC, Komal R, Langel J, Ma J, Duy PQ, Penzo MA, Zhao H, Hattar S. Retinal innervation tunes circuits that drive nonphotic entrainment to food. Nature 2020, 581: 194-198. PMID: 32404998, PMCID: PMC7291822, DOI: 10.1038/s41586-020-2204-1.Peer-Reviewed Original ResearchConceptsTime-restricted feedingEarly postnatal stagesPostnatal stagesAdult miceIntergeniculate leafletPhotosensitive retinal ganglion cellsRetinal ganglion cellsEarly postnatal periodFood anticipatory activityIGL neuronsGanglion cellsPostnatal periodRetinal inputIpRGCsAcute inhibitionCentral circadian pacemakerPhotic informationTime cuesMajor time cueSuprachiasmatic nucleusInnervationNonphotic cuesMiceNeuronsNonphotic entrainment
2019
Sex modulates the ApoE ε4 effect on brain tau deposition measured by 18F-AV-1451 PET in individuals with mild cognitive impairment
Liu M, Paranjpe MD, Zhou X, Duy PQ, Goyal MS, Benzinger TLS, Lu J, Wang R, Zhou Y. Sex modulates the ApoE ε4 effect on brain tau deposition measured by 18F-AV-1451 PET in individuals with mild cognitive impairment. Theranostics 2019, 9: 4959-4970. PMID: 31410194, PMCID: PMC6691387, DOI: 10.7150/thno.35366.Peer-Reviewed Original ResearchConceptsBrain tau depositionMild cognitive impairmentAPOE ε4 carrier statusΕ4 carrier statusAPOE ε4Tau depositionCSF tauF-AVP-tauT-tauCognitive impairmentAlzheimer's diseaseSex interaction effectsApolipoprotein E type 4 alleleCerebrospinal fluid (CSF) total tauStrongest genetic risk factorMagnetic resonance imaging (MRI) scansCarrier statusPET spatial normalizationStandardized uptake value ratio (SUVR) imagesCSF p-tauCSF t-tauStructural magnetic resonance imaging (MRI) scansResonance imaging scansType 4 allele