2024
Phenotypic and genotypic evaluation of bleeding diagnostic dilemmas: Two case studies
Gu S, Butt A, Schulz V, Rinder H, Lee A, Gallagher P, Hwa J, Bona R. Phenotypic and genotypic evaluation of bleeding diagnostic dilemmas: Two case studies. Blood Cells Molecules And Diseases 2024, 110: 102893. PMID: 39260211, DOI: 10.1016/j.bcmd.2024.102893.Peer-Reviewed Original ResearchInherited platelet disordersClinically significant bleedingCases of patientsHeterogeneous group of conditionsGroup of conditionsSignificant bleedingDiagnostic yieldDiagnostic dilemmaPlatelet disordersBleeding disordersEvaluating patientsPatient cohortMolecular pathogenesisMass cytometryHeterogeneous groupPatientsMultimodal approachBleedingImprove patient careDiagnosisDisordersPatient careGenetic sequencesLaboratory testing approachPotential utility
2023
Proteomic Profiling of Different Antiphospholipid Antibody-Positive Phenotypes: Results from Antiphospholipid Syndrome Alliance for Clinical Trials and International Networking (APS ACTION) Registry
Pine A, Butt A, Garcia-Milian R, Gu S, Restrepo V, Chock Y, Hwa J, Tormey C, Rinder H, Goshua G, Belmont H, Bertolaccini M, Branch D, Erhan D, Kello N, Knight J, Petri M, Willis R, Lee A, Sharda A. Proteomic Profiling of Different Antiphospholipid Antibody-Positive Phenotypes: Results from Antiphospholipid Syndrome Alliance for Clinical Trials and International Networking (APS ACTION) Registry. Blood 2023, 142: 2575. DOI: 10.1182/blood-2023-185232.Peer-Reviewed Original ResearchNeutrophil extracellular trapsAntiphospholipid syndromeHumoral immune responseImmune responseClinical phenotypePathophysiology of APSPathogenesis of APSSapporo classification criteriaAPL-positive patientsPathway enrichment analysisEffector cell differentiationAntiPhospholipid Syndrome AllianceDifferent clinical phenotypesProteomic profilingPlasma proteomic profilingPatient plasma samplesAPL antibodiesAPS pathogenesisAntiphospholipid antibodiesObstetric complicationsPositive aPLCytokine stormMedian ageMicrovascular disordersConcurrent diagnosisCAR T-Related Toxicities Based on Dynamic Proteomic Profiles Identifies Risk Factors for Cytokine Release Syndrome (CRS) and Immune Effector Cell -Associated Neurotoxicity Syndrome (ICANS)
Kewan T, Mirza S, Pine A, Rasheed Y, Hamouche R, Leveille E, Goshua G, Gu S, Liu Y, Vanoudenhove J, Bar N, Neparidze N, Foss F, Gowda L, Isufi I, Halene S, Lee A, Seropian S. CAR T-Related Toxicities Based on Dynamic Proteomic Profiles Identifies Risk Factors for Cytokine Release Syndrome (CRS) and Immune Effector Cell -Associated Neurotoxicity Syndrome (ICANS). Blood 2023, 142: 2132. DOI: 10.1182/blood-2023-187295.Peer-Reviewed Original ResearchCytokine release syndromeDiffuse large B-cell lymphomaCAR T-cell therapyCAR T-cell productsCAR-T productsNon-Hodgkin lymphomaBest cutoff pointMultiple myelomaHigher oddsDay 3Risk factorsTime pointsCutoff pointDay 5Day 0Median absolute lymphocyte countChimeric antigen receptor T cellsRefractory non-Hodgkin lymphomaCAR T-cell infusionAntigen receptor T cellsLarge B-cell lymphomaCAR-T activationFludarabine/cyclophosphamideHigher baseline CRPPossible inflammatory mediatorsMultimodality Platelet Evaluation By Mass Cytometry and Genetic Analysis in Patients with Bleeding Disorders
Gu S, Gallagher P, Butt A, Gu V, Lezon-Geyda K, Schulz V, Prozora S, Lee A, Neparidze N, Bar N, Martin K, Cornell J, Chirico G, Chakraborty R, Rinder H, Hwa J, Bona R. Multimodality Platelet Evaluation By Mass Cytometry and Genetic Analysis in Patients with Bleeding Disorders. Blood 2023, 142: 1197. DOI: 10.1182/blood-2023-177946.Peer-Reviewed Original ResearchBleeding tendencyBleeding disorderPlatelet markersPlatelet aggregometryMass cytometryPlatelet functionPlatelet disordersSingle-center prospective studyLow-risk groupAbnormal bleeding tendencyQualitative platelet disordersLarge patient cohortQuantitative platelet disordersCommon underlying causeGenetic variantsMultimodality evaluationTotal patientsRisk stratificationLaboratory suspicionPlatelet dysfunctionProspective studyPatient cohortUnivariate analysisPlatelet volumeRisk groups
2022
Plasma Proteomic Profiling Illustrates Endothelial and Complement Signature in Patients with Alcohol-Associated Cirrhosis
Allen C, Butt A, Zhao X, Li F, Bahel P, Chang C, Chun H, Gu S, Hwa J, Jakab S, Chen B, Garcia-Tsao G, Rinder H, To U, McConnell M, Lee A, Pine A. Plasma Proteomic Profiling Illustrates Endothelial and Complement Signature in Patients with Alcohol-Associated Cirrhosis. Blood 2022, 140: 8382-8383. DOI: 10.1182/blood-2022-162633.Peer-Reviewed Original ResearchProteomic Profiles of Cytokine Release Syndromes Following Lisocabtagene Maraleucel and Idecabtagene Vicleucel
Mirza A, Pine A, Rasheed Y, Hamouche R, Leveille E, Goshua G, Gu S, Liu Y, VanOudenhove J, Bar N, Neparidze N, Foss F, Gowda L, Isufi I, Halene S, Lee A, Seropian S. Proteomic Profiles of Cytokine Release Syndromes Following Lisocabtagene Maraleucel and Idecabtagene Vicleucel. Blood 2022, 140: 10410-10412. DOI: 10.1182/blood-2022-168374.Peer-Reviewed Original ResearchA guide to molecular and functional investigations of platelets to bridge basic and clinical sciences
Tyagi T, Jain K, Gu S, Qiu M, Gu V, Melchinger H, Rinder H, Martin K, Gardiner E, Lee A, Tang W, Hwa J. A guide to molecular and functional investigations of platelets to bridge basic and clinical sciences. Nature Cardiovascular Research 2022, 1: 223-237. PMID: 37502132, PMCID: PMC10373053, DOI: 10.1038/s44161-022-00021-z.Peer-Reviewed Reviews, Practice Guidelines, Standards, and Consensus StatementsVascular smooth muscle cellsPlatelet functional assaysCoronavirus disease 2019Smooth muscle cellsImmune cellsImmune regulationVascular remodelingDisease 2019Pathophysiological processesTranslational relevancePatient diagnosisFlow cytometryMuscle cellsPlatelet biologyFunctional assaysPlatelet investigationsHomeostatic processesPlateletsPhenotypic heterogeneityFunctional stateClinical scienceCellsAdditional roleThrombosisSuch diverse functions
2019
Whole-Exome Sequencing in Evaluation of Thrombophilia: Characterization of Novel Genetic Variants
Gu S, Shevell L, Tormey C, Rinder H, Lee A. Whole-Exome Sequencing in Evaluation of Thrombophilia: Characterization of Novel Genetic Variants. American Journal Of Clinical Pathology 2019, 152: s35-s35. DOI: 10.1093/ajcp/aqz112.066.Peer-Reviewed Original ResearchWhole-exome sequencingMultiple sequence alignment analysisVenous thromboembolismGenetic variantsSequence alignment analysisDisease-causing genetic variantsVon Willebrand factorRegions of proteinsNovel genetic variantsNext-generation sequencing studiesAmino acid substitutionsGenetic factorsNovel VUSAlignment analysisMajority of VTESequencing studiesAcid substitutionsSilico mutagenesisConformational changesEvaluation of thrombophiliaDeep venous thrombosisNonsynonymous variantsProthrombin gene mutationFactor V LeidenEnzymatic activity
2017
Whole-exome sequencing in evaluation of patients with venous thromboembolism
Lee EJ, Dykas DJ, Leavitt AD, Camire RM, Ebberink E, GarcĂa de Frutos P, Gnanasambandan K, Gu SX, Huntington JA, Lentz SR, Mertens K, Parish CR, Rezaie AR, Sayeski PP, Cromwell C, Bar N, Halene S, Neparidze N, Parker TL, Burns AJ, Dumont A, Yao X, Chaar CIO, Connors JM, Bale AE, Lee AI. Whole-exome sequencing in evaluation of patients with venous thromboembolism. Blood Advances 2017, 1: 1224-1237. PMID: 29296762, PMCID: PMC5728544, DOI: 10.1182/bloodadvances.2017005249.Peer-Reviewed Original ResearchWhole-exome sequencingVenous thromboembolismStudy patientsThrombophilia panelVTE patientsHeritable thrombophiliaThrombophilia testingDisease-causing genetic variantsEvaluation of patientsControl patientsThrombophilia mutationsProtein modelingThrombotic historyProtein structurePatientsThrombophilia genesVTE pathogenesisWES variantsUnknown significanceThrombophiliaGenetic variantsGenesPrior reportsSequencingThromboembolism
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