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
Multimodality 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 groupsProteomic 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 diagnosis
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 Research