2024
Genetic and molecular drivers of scleroderma pathogenesis
Odell I. Genetic and molecular drivers of scleroderma pathogenesis. Clinics In Dermatology 2024, 43: 153-159. PMID: 39675445, PMCID: PMC12009687, DOI: 10.1016/j.clindermatol.2024.12.007.Peer-Reviewed Original ResearchGrowth factor signalingFactor signalingScleroderma pathogenesisActivated growth factor receptorsGenetic association studiesTherapeutic approachesMolecular driversHereditary hemorrhagic telangiectasiaAssociation studiesRegulatory genesGrowth factor receptorImmune regulatory genesGenetic studiesBiological insightsVascular endothelial cellsMolecular mechanismsHemorrhagic telangiectasiaImmune dysregulationClinical findingsVascular abnormalitiesHeterogeneous diseaseClinical phenotypeFactor receptorPatient phenotypesMultiple malignancies
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
Neurovascular imaging with QUTE-CE MRI in APOE4 rats reveals early vascular abnormalities
Leaston J, Ferris C, Kulkarni P, Chandramohan D, van de Ven A, Qiao J, Timms L, Sepulcre J, Fakhri G, Ma C, Normandin M, Gharagouzloo C. Neurovascular imaging with QUTE-CE MRI in APOE4 rats reveals early vascular abnormalities. PLOS ONE 2021, 16: e0256749. PMID: 34449808, PMCID: PMC8396782, DOI: 10.1371/journal.pone.0256749.Peer-Reviewed Original ResearchConceptsVascular abnormalitiesAPOE-e4Contrast-enhanced magnetic resonance imagingBlood-brain-barrier leakageNeurovascular dysfunctionSmall vessel abnormalitiesMagnetic resonance imagingTri-synaptic circuitBlood-brain-barrierCross-sectional studyFemale ratsSignificant signal increaseHyper-vascularizationCerebrovascular abnormalitiesVessel abnormalitiesNeurovascular imagingQUTE-CEBrain volumeAnimal modelsPathological causesAbnormalitiesHistological validationImaging modalitiesResonance imagingCaveolae-mediated Tie2 signaling contributes to CCM pathogenesis in a brain endothelial cell-specific Pdcd10-deficient mouse model
Zhou HJ, Qin L, Jiang Q, Murray KN, Zhang H, Li B, Lin Q, Graham M, Liu X, Grutzendler J, Min W. Caveolae-mediated Tie2 signaling contributes to CCM pathogenesis in a brain endothelial cell-specific Pdcd10-deficient mouse model. Nature Communications 2021, 12: 504. PMID: 33495460, PMCID: PMC7835246, DOI: 10.1038/s41467-020-20774-0.Peer-Reviewed Original ResearchConceptsCerebral cavernous malformationsCCM lesionsSmooth muscle actin-positive pericytesEndothelial cell lossRegions of brainCCM pathogenesisPost-capillary venulesCerebral hemorrhagePharmacological blockadeVascular abnormalitiesEC-specific deletionCavernous malformationsMouse modelCell lossMicrovascular bedGenetic deletionLesion formationLesionsVascular dynamicsBarrier functionMicrovascular structureTwo-photon microscopyTie2PathogenesisMice
2019
Challenges During Epilepsy Surgery in Pediatric Patients
Field R, Rosenbaum A, Kain Z. Challenges During Epilepsy Surgery in Pediatric Patients. 2019, 407-411. DOI: 10.1007/978-3-030-17410-1_63.Peer-Reviewed Original ResearchRefractory epilepsyIntractable seizuresPediatric refractory epilepsyPermanent brain injuryAnti-epileptic medicationsEarly surgical interventionSeverity of seizuresAnti-epileptic drugsCertain epileptic syndromesQuality of lifeBetter patient complianceEpilepsy presentsPediatric patientsEpileptic syndromesEpilepsy surgeryPoor prognosisSurgical interventionPharmacological treatmentCortical malformationsVascular abnormalitiesTherapeutic rangeBrain injuryFocal epilepsyCognitive dysfunctionCommon cause
2018
Mutations in Chromatin Modifier and Ephrin Signaling Genes in Vein of Galen Malformation
Duran D, Zeng X, Jin SC, Choi J, Nelson-Williams C, Yatsula B, Gaillard J, Furey CG, Lu Q, Timberlake AT, Dong W, Sorscher MA, Loring E, Klein J, Allocco A, Hunt A, Conine S, Karimy JK, Youngblood MW, Zhang J, DiLuna ML, Matouk CC, Mane S, Tikhonova IR, Castaldi C, López-Giráldez F, Knight J, Haider S, Soban M, Alper SL, Komiyama M, Ducruet AF, Zabramski JM, Dardik A, Walcott BP, Stapleton CJ, Aagaard-Kienitz B, Rodesch G, Jackson E, Smith ER, Orbach DB, Berenstein A, Bilguvar K, Vikkula M, Gunel M, Lifton RP, Kahle KT. Mutations in Chromatin Modifier and Ephrin Signaling Genes in Vein of Galen Malformation. Neuron 2018, 101: 429-443.e4. PMID: 30578106, PMCID: PMC10292091, DOI: 10.1016/j.neuron.2018.11.041.Peer-Reviewed Original ResearchConceptsChromatin modifiersVascular developmentSpecification of arteriesDeep venous systemNormal vascular developmentParent-offspring triosSignaling GenesGalen malformationDamaging mutationsGenesMutationsEssential roleArterio-venous malformationsCutaneous vascular abnormalitiesNovo mutationsExome sequencingDisease biologyIncomplete penetranceVariable expressivityVascular abnormalitiesVenous systemMutation carriersArterial bloodMutation burdenClinical implicationsPediatric Congenital Cerebrovascular Anomalies
Goyal P, Mangla R, Gupta S, Malhotra A, Almast J, Sapire J, Kolar B. Pediatric Congenital Cerebrovascular Anomalies. Journal Of Neuroimaging 2018, 29: 165-181. PMID: 30378722, DOI: 10.1111/jon.12575.Peer-Reviewed Original ResearchConceptsVascular malformationsCerebrovascular anomaliesCentral nervous system vascular malformationsMultiple developmental venous anomaliesPersistent carotid-vertebrobasilar anastomosesFamilial associationAssociated vascular malformationCarotid-vertebrobasilar anastomosesDevelopmental venous anomaliesPediatric age groupMultiple cavernous malformationsSturge-Weber syndromeCongenital vascular malformationsHereditary hemorrhagic telangiectasiaArterial anomaliesSinus thrombosisVenous anomaliesVenous malformationsVascular abnormalitiesVascular tumorsVascular lesionsDiverse etiologiesArteriovenous malformationsSystemic conditionsFurther management
2017
Natural history of splenic vascular abnormalities after blunt injury
Zarzaur BL, Dunn JA, Leininger B, Lauerman M, Shanmuganathan K, Kaups K, Zamary K, Hartwell JL, Bhakta A, Myers J, Gordy S, Todd SR, Claridge JA, Teicher E, Sperry J, Privette A, Allawi A, Burlew CC, Maung AA, Davis KA, Cogbill T, Bonne S, Livingston DH, Coimbra R, Kozar RA. Natural history of splenic vascular abnormalities after blunt injury. Journal Of Trauma And Acute Care Surgery 2017, 83: 999-1005. PMID: 28570347, DOI: 10.1097/ta.0000000000001597.Peer-Reviewed Original ResearchConceptsBlunt splenic injurySplenic vascular injuryVascular injuryVascular abnormalitiesSplenic injuryTomography scanNatural historyRisks of splenectomyOutcomes of patientsComputed tomography scanNonoperative failureAdult patientsBlunt injuryEarly splenectomyUnderwent splenectomyInjury characteristicsMultivariable analysisTrauma centerTrauma radiologistSplenectomyHigh riskPrognostic studiesPatientsAppropriate managementLevel IIILymph node stromal and vascular proliferations
Xu ML, O’Malley D. Lymph node stromal and vascular proliferations. Seminars In Diagnostic Pathology 2017, 35: 67-75. PMID: 29173940, DOI: 10.1053/j.semdp.2017.11.004.Peer-Reviewed Original ResearchIdiopathic retinal vasculitis, aneurysms, and neuroretinitis (IRVAN) syndrome: clinical perspectives
Bajgai P, Katoch D, Dogra M, Singh R. Idiopathic retinal vasculitis, aneurysms, and neuroretinitis (IRVAN) syndrome: clinical perspectives. Clinical Ophthalmology 2017, 11: 1805-1817. PMID: 29062224, PMCID: PMC5640394, DOI: 10.2147/opth.s128506.Peer-Reviewed Original ResearchRetinal vasculitisFluorescein angiographyRetinal nonperfusion areaVariable clinical aspectsIdiopathic retinal vasculitisOptic nerve headMultiple aneurysmal dilatationsFundus appearanceExudative retinopathyNonperfusion areaNerve headRetinal arteriolesVascular abnormalitiesAneurysmal dilatationTreatment strategiesClinical aspectsHealthy individualsSyndromeNeuroretinitisArteriolesVasculitisAngiographyDiffuse leakagePatientsFluorescein
2016
May-Thurner syndrome and iliac arteriovenous fistula in an elderly woman
Huynh N, Gates L, Scoutt L, Sumpio B, Sarac T, Chaar C. May-Thurner syndrome and iliac arteriovenous fistula in an elderly woman. Journal Of Vascular Surgery Cases And Innovative Techniques 2016, 2: 46-49. PMID: 31193380, PMCID: PMC6526307, DOI: 10.1016/j.jvsc.2016.02.001.Peer-Reviewed Original ResearchMay-Thurner syndromeLeft common iliac veinCommon iliac veinIliac veinArteriovenous fistulaRight common iliac arteryDeep venous thrombosisLower extremity edemaCommon iliac arteryIliac arteriovenous fistulaPelvic arteriovenous fistulaAdditional vascular abnormalitiesLeg painExtremity edemaVenous thrombosisCase reportIliac arteryVascular abnormalitiesElderly womenFistulaSyndromeSymptomsWomenVeinEmbolization
2015
Infertility and reproductive disorders: impact of hormonal and inflammatory mechanisms on pregnancy outcome
Vannuccini S, Clifton VL, Fraser IS, Taylor HS, Critchley H, Giudice LC, Petraglia F. Infertility and reproductive disorders: impact of hormonal and inflammatory mechanisms on pregnancy outcome. Human Reproduction Update 2015, 22: 104-115. PMID: 26395640, PMCID: PMC7289323, DOI: 10.1093/humupd/dmv044.Peer-Reviewed Original ResearchConceptsPoor pregnancy outcomesPregnancy outcomesObstetric complicationsReproductive disordersHormonal aberrationsPreventative care measuresFetal growth restrictionAdvanced maternal ageEvidence-based recommendationsDecidual senescenceHypertensive disordersPerinatal outcomesUnexplained infertilityInflammatory mechanismsPreterm birthPlacental pathologyInflammatory pathwaysMaternal ageVascular abnormalitiesCare measuresCare pathwayClinical managementGrowth restrictionAffected patientsMetabolic factors
2014
Magnetic resonance imaging/angiography and transcranial Doppler velocities in sickle cell anemia: results from the SWiTCH trial
Helton KJ, Investigators F, Adams R, Kesler K, Lockhart A, Aygun B, Driscoll C, Heeney M, Jackson S, Krishnamurti L, Miller S, Sarnaik S, Schultz W, Ware R. Magnetic resonance imaging/angiography and transcranial Doppler velocities in sickle cell anemia: results from the SWiTCH trial. Blood 2014, 124: 891-898. PMID: 24914136, PMCID: PMC4126329, DOI: 10.1182/blood-2013-12-545186.Peer-Reviewed Original ResearchMeSH KeywordsAdolescentAnemia, Sickle CellBlood Flow VelocityBlood TransfusionBrainCerebrovascular CirculationChildChild, PreschoolFemaleFunctional NeuroimagingHumansHydroxyureaMagnetic Resonance AngiographyMagnetic Resonance ImagingMalePrognosisSecondary PreventionStrokeUltrasonography, Doppler, TranscranialYoung AdultConceptsMagnetic resonance imaging/magnetic resonance angiographyVessel stenosisWorse stenosisMagnetic resonance imaging/Central blinded reviewNew silent infarctTranscranial Doppler examsTransient ischemic attackFuture clinical trialsTranscranial Doppler velocitiesMagnetic resonance angiographySickle cell anemiaHydroxyurea trialIschemic attackRecurrent strokeSilent infarctsCerebrovascular injuryParenchymal injuryChronic transfusionTCD velocitiesSevere baselineDoppler examVascular abnormalitiesClinical trialsIron overload
2011
Challenges During Epilepsy Surgery in Pediatric Patients
Rosenbaum A, Kain Z. Challenges During Epilepsy Surgery in Pediatric Patients. 2011, 531-538. DOI: 10.1007/978-0-387-09562-2_55.Peer-Reviewed Original ResearchRefractory epilepsyIntractable seizuresPediatric refractory epilepsyPermanent brain injuryEarly surgical interventionSeverity of seizuresAnti-epileptic drugsCertain epileptic syndromesQuality of lifeBetter patient complianceAntiepileptic medicationsPediatric patientsEpileptic syndromesEpilepsy surgeryPoor prognosisSurgical interventionPharmacological treatmentCortical malformationsVascular abnormalitiesTherapeutic rangeBrain injuryFocal epilepsyCognitive dysfunctionCommon causeSudden death
2009
Prenatal diagnosis of an umbilical vein aneurysm: a case report.
Panda B, Stiller R, Iruretagoyena I, Levi A. Prenatal diagnosis of an umbilical vein aneurysm: a case report. Connecticut Medicine 2009, 73: 465-7. PMID: 19777980.Peer-Reviewed Original Research
2006
Granzyme B‐dependent Matrix Degradation Generates Anti‐Angiostatic Activity in Scleroderma Patients
Mulligan‐Kehoe M, Drinane M, Hummers L, Hall A, Rosen A, Wigley F, Simons M. Granzyme B‐dependent Matrix Degradation Generates Anti‐Angiostatic Activity in Scleroderma Patients. The FASEB Journal 2006, 20: a1099-a1099. DOI: 10.1096/fasebj.20.5.a1099-a.Peer-Reviewed Original ResearchSSc patientsRA patientsScleroderma patientsGranzyme BSystemic connective tissue diseasesExtensive vascular componentConnective tissue diseasePAI-1 levelsNormal control patientsAngiostatin K1-3Impaired wound healingAnti-angiogenic factorsAnti-angiogenic activityNormal endothelial cellsAberrant microvasculatureControl patientsRheumatoid arthritisTissue diseaseVascular abnormalitiesUncertain etiologyVascular componentPatientsEndothelial cellsEndothelial cell migrationWound healingThe hyperdynamic circulation of chronic liver diseases: From the patient to the molecule
Iwakiri Y, Groszmann RJ. The hyperdynamic circulation of chronic liver diseases: From the patient to the molecule. Hepatology 2006, 43: s121-s131. PMID: 16447289, DOI: 10.1002/hep.20993.BooksMeSH KeywordsAdrenomedullinAnimalsBiological FactorsBlood PressureCannabinoid Receptor ModulatorsCarbon MonoxideChronic DiseaseDisease Models, AnimalEndothelium, VascularHumansHydrogen SulfideHypertension, PortalLiverLiver DiseasesNitric OxidePeptidesSplanchnic CirculationTumor Necrosis Factor-alphaVasodilationConceptsHyperdynamic circulatory syndromeChronic liver diseaseCirculatory syndromeLiver diseaseVasodilator moleculeClinical observationsExperimental modelComplex pathophysiological mechanismsHyperdynamic circulationProgressive vasodilatationPortal hypertensionPathophysiological mechanismsVascular abnormalitiesComplex syndromeMultiple organsPatientsNitric oxideSyndromeVasodilatationDiseaseDetrimental effectsHypertensionAbnormalitiesComplex mechanisms
1992
High endothelin-1 immunoreactivity in Crohn's disease and ulcerative colitis
Murch SH, Braegger CP, MacDonald T, Sessa W. High endothelin-1 immunoreactivity in Crohn's disease and ulcerative colitis. The Lancet 1992, 339: 381-385. PMID: 1346658, DOI: 10.1016/0140-6736(92)90077-g.Peer-Reviewed Original ResearchConceptsCrohn's disease patientsInflammatory bowel diseaseDisease patientsUlcerative colitisCrohn's diseaseBowel diseaseEndothelin-1Lamina propriaChronic inflammatory bowel diseaseEndothelin-1 immunoreactivitySubmucosal blood vesselsUlcerative colitis patientsTissue samplesUlcerative colitis groupEndothelin concentrationsImmunological hypersensitivityIntestinal ischaemiaColitis groupColitis patientsEndothelin productionInflammatory cellsPotent vasoconstrictorVascular abnormalitiesDisease groupImmunoreactive cells
1977
ULTRASTRUCTURE OF THE HUMAN DERMAL MICROCIRCULATION
Braverman I, Yen A. ULTRASTRUCTURE OF THE HUMAN DERMAL MICROCIRCULATION. Journal Of Investigative Dermatology 1977, 68: 44-52. PMID: 830769, DOI: 10.1111/1523-1747.ep12485165.Peer-Reviewed Original ResearchConceptsCapillary loopsVenous characteristicsNormal skinBasement membraneHuman Dermal MicrocirculationArterial capillariesIntrapapillary capillary loopsNummular eczemaVascular abnormalitiesArterial loopPsoriatic skinNormal forearmsUpper dermisDermal plexusDermal microcirculationIntrapapillary portionVenous capillariesFenestration
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