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
2022
Transjugular Intrahepatic Portosystemic Shunt for Refractory Ascites in Gaucher Disease
Adhyaru K, Menezes S, Mistry PK, Nagral A, Mistry P. Transjugular Intrahepatic Portosystemic Shunt for Refractory Ascites in Gaucher Disease. Cureus 2022, 14: e23941. PMID: 35535294, PMCID: PMC9079779, DOI: 10.7759/cureus.23941.Peer-Reviewed Original ResearchHepatic venous pressure gradientGaucher diseaseRefractory ascitesTransjugular intrahepatic portosystemic shuntTransjugular intrahepatic portosystemic shunt (TIPS) procedureAdvanced hepatic diseaseVenous pressure gradientIntrahepatic portosystemic shuntAnterior abdominal wallPortosystemic shunt procedureEnzyme replacement therapyAvascular osteonecrosisLiver transplantationLysosomal storage disorderPortal hypertensionVariceal bleedingSevere cytopeniaHepatic encephalopathyVenous collateralsLiver diseaseShunt procedurePortosystemic shuntReplacement therapyHepatic diseaseAbdominal wall
2014
Gaucher disease: the metabolic defect, pathophysiology, phenotypes and natural history.
Baris HN, Cohen IJ, Mistry PK. Gaucher disease: the metabolic defect, pathophysiology, phenotypes and natural history. Pediatric Endocrinology Reviews : PER 2014, 12 Suppl 1: 72-81. PMID: 25345088, PMCID: PMC4520262.Peer-Reviewed Original ResearchConceptsGaucher disease type 1Gaucher diseaseNatural historyAvascular osteonecrosisType 1 Gaucher diseaseComplex multisystem phenotypeStandard of careProgressive neurodegenerative diseaseType 3 diseaseEnzyme replacement therapyDisease type 1Bone involvementLysosomal storage disorderLytic lesionsReplacement therapyTreatment optionsBone marrowType 2Clinical phenotypeMetabolic defectsType 1Multisystem phenotypeNeurodegenerative diseasesBiallelic mutationsDisease
2012
Risk factors for fractures and avascular osteonecrosis in type 1 Gaucher disease: A study from the International Collaborative Gaucher Group (ICGG) Gaucher Registry
Khan A, Hangartner T, Weinreb NJ, Taylor JS, Mistry PK. Risk factors for fractures and avascular osteonecrosis in type 1 Gaucher disease: A study from the International Collaborative Gaucher Group (ICGG) Gaucher Registry. Journal Of Bone And Mineral Research 2012, 27: 1839-1848. PMID: 22692814, DOI: 10.1002/jbmr.1680.Peer-Reviewed Original ResearchConceptsInternational Collaborative Gaucher Group Gaucher RegistryType 1 Gaucher diseaseAvascular osteonecrosisRisk factorsDXA Z-scoresSurrogate markerZ-scoreDisease activityGaucher RegistryOdds ratioGaucher diseaseLow bone mineral densityOverall disease activityStrong risk factorPotential risk factorsBone mineral densityConditional logistic regressionSeverity of involvementNew risk factorsWhite blood cellsCase-control methodYear of birthGBA1 genotypeGD1 patientsRegistry patients
2011
Reducing selection bias in case-control studies from rare disease registries
Cole JA, Taylor JS, Hangartner TN, Weinreb NJ, Mistry PK, Khan A. Reducing selection bias in case-control studies from rare disease registries. Orphanet Journal Of Rare Diseases 2011, 6: 61. PMID: 21910867, PMCID: PMC3200984, DOI: 10.1186/1750-1172-6-61.Peer-Reviewed Original Research
2010
Focal splenic lesions in type I Gaucher disease are associated with poor platelet and splenic response to macrophage‐targeted enzyme replacement therapy
Stein P, Malhotra A, Haims A, Pastores GM, Mistry PK. Focal splenic lesions in type I Gaucher disease are associated with poor platelet and splenic response to macrophage‐targeted enzyme replacement therapy. Journal Of Inherited Metabolic Disease 2010, 33: 769-774. PMID: 20683668, PMCID: PMC3008694, DOI: 10.1007/s10545-010-9175-6.Peer-Reviewed Original ResearchConceptsFocal splenic lesionsEnzyme replacement therapyGD1 patientsReplacement therapySplenic lesionsMacrophage-targeted enzyme replacement therapyPlatelet responseYears of ERTPrevalence of osteonecrosisGaucher disease type IDeterminants of responseType IPoor plateletsAvascular osteonecrosisSuboptimal responseSevere manifestationsSplenic responseIntact spleenClinical significanceSplenic parenchymaPatientsWorse thrombocytopeniaRoutine evaluationSplenomegalyTherapyThe risk of Parkinson's disease in type 1 Gaucher disease
Bultron G, Kacena K, Pearson D, Boxer M, Yang R, Sathe S, Pastores G, Mistry PK. The risk of Parkinson's disease in type 1 Gaucher disease. Journal Of Inherited Metabolic Disease 2010, 33: 167-173. PMID: 20177787, PMCID: PMC2887303, DOI: 10.1007/s10545-010-9055-0.Peer-Reviewed Original ResearchConceptsParkinson's diseaseGeneral populationGaucher diseaseRisk of PDType 1 Gaucher diseaseType 1 Gaucher's diseaseIdiopathic Parkinson's diseaseLife-time riskFirst-degree relativesParkinson's disease phenotypeLife-threatening diseaseDisease phenotypeGenetic risk factorsMagnitude of riskAvascular osteonecrosisClinical spectrumParkinsonian syndromesRisk ratioSeverity scoreRisk factorsDegree relativesHigh riskHigh incidencePD phenotypePatients