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
Heidenhain variant of Creutzfeldt-Jakob disease masquerading as neuromyelitis optica spectrum disorder: recognizing when apheresis is not the answer
Burke O, Jacobs J, Tormey C, Rinder H, Villalba C, Lee E, Campos J, Abels E, Yurtsever N. Heidenhain variant of Creutzfeldt-Jakob disease masquerading as neuromyelitis optica spectrum disorder: recognizing when apheresis is not the answer. Lab Medicine 2023, 55: 520-523. PMID: 38142129, DOI: 10.1093/labmed/lmad107.Peer-Reviewed Original ResearchNeuromyelitis optica spectrum disorderCreutzfeld-Jakob diseaseOptica spectrum disorderHeidenhain variantBilateral vision lossTherapeutic plasma exchangeReal-time quaking-induced conversionCreutzfeldt-Jakob diseaseImmunosuppressive therapyVisual disturbancesPlasma exchangeNeurocognitive symptomsTreatment modalitiesVision lossHospice careSpectrum disorderRare formPreliminary diagnosisDiseaseDiagnosisDisordersEarly stagesPatientsApheresisTherapy