2025
Efficacy and Safety of IV Thrombolysis for Acute Ischemic Stroke Patients With Moyamoya Disease
Chen H, Colasurdo M, Khunte M, Malhotra A, Gandhi D. Efficacy and Safety of IV Thrombolysis for Acute Ischemic Stroke Patients With Moyamoya Disease. Neurology 2025, 104: e210243. PMID: 39772663, DOI: 10.1212/wnl.0000000000210243.Peer-Reviewed Original ResearchConceptsAcute ischemic strokeTreated with IV thrombolysisIn-hospital mortalityMoyamoya disease patientsIV thrombolysisMoyamoya diseasePropensity score matchingIntracranial hemorrhageRisk factors of acute ischemic strokeSelf-careIschemic stroke patientsAcute ischemic stroke patientsStroke patientsTreating acute ischemic strokeNationwide Readmissions DatabaseRisk factorsRate of routine dischargeRoutine dischargeEfficacy outcomesAssociated with different ratesProspective studyBypass surgeryRetrospective analysisEstablished treatmentReadmissions Database
2023
345 Structural Cardiac Defects and Vascular Anomalies in Vein of Galen Malformation Patients: A Multi-Institutional Cohort With Genetic Sequencing
Piwowarczyk P, Moyer Q, Mekbib K, Kappel A, Zhao S, Shohfi J, Smith H, Orbach D, See A, Smith E, Kahle K. 345 Structural Cardiac Defects and Vascular Anomalies in Vein of Galen Malformation Patients: A Multi-Institutional Cohort With Genetic Sequencing. Neurosurgery 2023, 69: 55-55. DOI: 10.1227/neu.0000000000002375_345.Peer-Reviewed Original ResearchCapillary malformation-arteriovenous malformation syndromeHereditary hemorrhagic telangiectasiaStructural cardiac defectsCutaneous vascular lesionsCardiac defectsWhole-exome sequencingRecurrent epistaxisVascular abnormalitiesVascular lesionsArteriovenous malformationsGeneral populationExome sequencingRole of EphB4Patent ductus arteriosusBrain arteriovenous malformationsAtrial septal defectGalen malformationDuctus arteriosusClinical featuresInstitutional cohortMoyamoya diseaseVascular anomaliesSeptal defectVascular disordersNeurovascular disorder
2021
First report: Rare RNF213 variant associated with familial moyamoya disease in an African American family
Sunmonu N, Ambati N, Thomas M, Ulep R, Worrall B. First report: Rare RNF213 variant associated with familial moyamoya disease in an African American family. Journal Of Stroke And Cerebrovascular Diseases 2021, 30: 106123. PMID: 34666234, DOI: 10.1016/j.jstrokecerebrovasdis.2021.106123.Peer-Reviewed Original ResearchConceptsMoyamoya diseaseAfrican American familiesEthnically diverse participantsPotential genetic susceptibilityFamilial moyamoya diseaseFirst-degree relativesAmerican familiesLate presentationFatal courseNeurological eventsRNF213 geneMild diseasePhenotypic spectrumNeurovascular imagingThalamic strokeFatal childhood diseaseIschaemic infarctionYoung probandsGenetic susceptibilityHeritable genetic diseaseDiverse participantsChildhood diseasesDiseaseGenetic diseasesRNF213DIAPH1 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 hospitalsAbstract P588: A Rare RNF213 Variant is Associated With Moyamoya Disease in an African American Family
Sunmonu N, Thomas M, Ulep R, Ambati N, Worrall B. Abstract P588: A Rare RNF213 Variant is Associated With Moyamoya Disease in an African American Family. Stroke 2021, 52 DOI: 10.1161/str.52.suppl_1.p588.Peer-Reviewed Original ResearchAfrican American familiesFamilial moyamoya diseaseEthnically diverse participantsRelatives of probandsPotential genetic susceptibilityMoyamoya diseaseAmerican familiesCerebrovascular imagingFamily historyGenetic testingRNF213 variantsLate presentationPaternal half-brothersGenetic susceptibilityAssociated with moyamoya diseaseDiverse participantsEthnic backgroundChildhood diseasesBody of evidenceResidual neurological deficitsFatal childhood diseaseAsymptomatic relativesGrowing body of evidenceEvaluating patientsACTA2 gene
2020
Microcephalic osteodysplastic primordial dwarfism type II and pachygyria: Morphometric analysis in a 2‐year‐old girl
Rossi‐Espagnet M, Dentici M, Pasquini L, Carducci C, Lucignani M, Longo D, Agolini E, Novelli A, Gonfiantini M, Digilio M, Napolitano A, Bartuli A. Microcephalic osteodysplastic primordial dwarfism type II and pachygyria: Morphometric analysis in a 2‐year‐old girl. American Journal Of Medical Genetics Part A 2020, 182: 2372-2376. PMID: 32744776, DOI: 10.1002/ajmg.a.61771.Peer-Reviewed Original ResearchConceptsMicrocephalic osteodysplastic primordial dwarfismMOPD type IIMagnetic resonance imagingHeterozygous loss-of-function variantsMalformations of cortical developmentMicrocephalic osteodysplastic primordial dwarfism typeCompound heterozygous loss-of-function variantsBrain magnetic resonance imagingOsteodysplastic primordial dwarfism typeProportionate short statureOsteodysplastic primordial dwarfismLoss-of-function variantsYear old girlCortical thicknessPericentrin geneIncrease of CTComparing MRI dataType IIShort statureMoyamoya diseaseCerebrovascular abnormalitiesHealthy controlsMorphometric analysisOld girlCortical development
2016
Added Value of Vessel Wall Magnetic Resonance Imaging in the Differentiation of Moyamoya Vasculopathies in a Non-Asian Cohort
Mossa-Basha M, de Havenon A, Becker KJ, Hallam DK, Levitt MR, Cohen WA, Hippe DS, Alexander MD, Tirschwell DL, Hatsukami T, Amlie-Lefond C, Yuan C. Added Value of Vessel Wall Magnetic Resonance Imaging in the Differentiation of Moyamoya Vasculopathies in a Non-Asian Cohort. Stroke 2016, 47: 1782-1788. PMID: 27272486, PMCID: PMC4927346, DOI: 10.1161/strokeaha.116.013320.Peer-Reviewed Original ResearchConceptsVessel wall magnetic resonance imagingMagnetic resonance imagingMoyamoya diseaseLuminal imagingInter-reader agreementMoyamoya vasculopathyResonance imagingCarotid artery territoryNon-Asian cohortsMoyamoya disease casesPattern of involvementT2 signal characteristicsArtery territoryCarotid diseaseCollateral gradingConcentric lesionsCollateral extentPostcontrast enhancementMRI characteristicsHeterogeneous enhancementMulticontrast protocolClinical dataCarotid segmentsHeterogeneous lesionsT2 heterogeneity
1997
Concurrence of Graves' Disease and Dysplastic Cerebral Blood Vessels of the Moyamoya Variety
Tendler BE, Shoukri K, Malchoff C, MacGillivray D, Duckrow R, Talmadge T, Ramsby GR. Concurrence of Graves' Disease and Dysplastic Cerebral Blood Vessels of the Moyamoya Variety. Thyroid 1997, 7: 625-629. PMID: 9292953, DOI: 10.1089/thy.1997.7.625.Peer-Reviewed Original ResearchConceptsRadioactive iodine therapyDisease 10 yearsGraves' diseaseIodine therapyAcute cerebrovascular ischemiaSafe therapeutic alternativeLong-term efficacyCerebral blood vesselsAutoimmune mechanismsCerebrovascular ischemiaMoyamoya phenomenonMoyamoya diseaseAntithyroid drugsOptimal treatmentCerebral vesselsCaucasian womenTherapeutic alternativeHyperthyroidismDiseasePatientsBlood vesselsLimited experienceTherapyVesselsThyroidectomy
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