2023
Osteonecrosis in Gaucher disease in the era of multiple therapies: Biomarker set for risk stratification from a tertiary referral center
Basiri M, Ghaffari M, Ruan J, Murugesan V, Kleytman N, Belinsky G, Akhavan A, Lischuk A, Guo L, Klinger K, Mistry P. Osteonecrosis in Gaucher disease in the era of multiple therapies: Biomarker set for risk stratification from a tertiary referral center. ELife 2023, 12: e87537. PMID: 37249220, PMCID: PMC10317498, DOI: 10.7554/elife.87537.Peer-Reviewed Original ResearchConceptsEnzyme replacement therapySubstrate reduction therapyAvascular osteonecrosisTertiary referral centerGaucher diseaseReferral centerTreatment initiationGD patientsImiglucerase enzyme replacement therapyResidual disease activityAnti-drug antibodiesYears of treatmentType of therapyRare inborn errorMixed-effects logistic modelGD1 patientsSpleen statusDisease activityClinical outcomesRisk stratificationReplacement therapyIndependent correlatesMultiple therapiesReduction therapyHigh risk
2016
Varied autopsy findings in five treated patients with Gaucher disease and parkinsonism include the absence of Gaucher cells
Monestime G, Borger DK, Kim J, Lopez G, Allgaeuer M, Jain D, Vortmeyer A, Wang HW, Sidransky E. Varied autopsy findings in five treated patients with Gaucher disease and parkinsonism include the absence of Gaucher cells. Molecular Genetics And Metabolism 2016, 118: 55-59. PMID: 26992326, DOI: 10.1016/j.ymgme.2016.02.008.Peer-Reviewed Original ResearchConceptsAutopsy findingsGaucher diseaseDose/durationEnzyme replacement therapySpleen statusPathological findingsReplacement therapyDisease burdenPathological studiesGaucher cellsPatientsHematological symptomsExtensive involvementTherapyParkinsonismDiseaseMultiple tissuesComplete absenceFindingsAutopsiesSymptomsPathologyBiomarkersCare
2011
Pulmonary vascular disease in Gaucher disease: clinical spectrum, determinants of phenotype and long‐term outcomes of therapy
Lo SM, Liu J, Chen F, Pastores GM, Knowles J, Boxer M, Aleck K, Mistry PK. Pulmonary vascular disease in Gaucher disease: clinical spectrum, determinants of phenotype and long‐term outcomes of therapy. Journal Of Inherited Metabolic Disease 2011, 34: 643-650. PMID: 21445609, PMCID: PMC3782382, DOI: 10.1007/s10545-011-9313-9.Peer-Reviewed Original ResearchConceptsPulmonary arterial hypertensionEnzyme replacement therapySeverity Score IndexHepatopulmonary syndromeLong-term outcomesGBA1 genotypeAdjuvant therapyPreponderance of femalesImiglucerase enzyme replacement therapyType 1 Gaucher diseaseDiagnosis of GD1Pulmonary vascular complicationsPulmonary vascular diseaseMedian age 12Spleen statusArterial hypertensionVascular complicationsPatient characteristicsConsecutive patientsInitial presentationMedian ageReplacement therapyClinical spectrumVascular diseasePatients
2008
Correlation of MRI-Based bone marrow burden score with genotype and spleen status in Gaucher's disease.
DeMayo RF, Haims AH, McRae MC, Yang R, Mistry PK. Correlation of MRI-Based bone marrow burden score with genotype and spleen status in Gaucher's disease. American Journal Of Roentgenology 2008, 191: 115-23. PMID: 18562733, PMCID: PMC3731993, DOI: 10.2214/ajr.07.3550.Peer-Reviewed Original ResearchConceptsBone marrow burden scoreEnzyme replacement therapyBurden scoreBone marrow diseaseSpleen statusReplacement therapyGaucher diseaseN370S alleleCumulative durationPathologic findingsLiver volumeMarrow diseaseSignificant positive correlationBone marrow burdenCorrelation of MRIN370S homozygotesUntreated diseaseClinical parametersPositive correlationLiver sizeProtective roleAmeliorative effectSignificant associationGreater riskDisease
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