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 utilityJoint bleeds in mild hemophilia: Prevalence and clinical characteristics
Chiari J, Prozora S, Feinn R, Louizos E, Gallagher P, Bona R. Joint bleeds in mild hemophilia: Prevalence and clinical characteristics. Haemophilia 2024, 30: 331-335. PMID: 38240020, DOI: 10.1111/hae.14939.Peer-Reviewed Original ResearchMild haemophiliaJoint bleedsJoint range of motionHepatitis CRange of motionMild diseaseHistory of joint bleedsInstitutional review board approvalJoint rangeRetrospective chart reviewHemophilia treatment centersReview board approvalJoint healthHistory of traumaDisease burdenMedical recordsChart reviewClinical characteristicsMitigate disease burdenRisk factorsBoard approvalBleedingTraumatic bleedingAverage ageHemophilic arthropathy