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
2010
Liver transplantation for inherited metabolic disorders of the liver
Moini M, Mistry P, Schilsky ML. Liver transplantation for inherited metabolic disorders of the liver. Current Opinion In Organ Transplantation 2010, 15: 269-276. PMID: 20489626, DOI: 10.1097/mot.0b013e3283399dbd.Peer-Reviewed Original ResearchConceptsLiver transplantExtrahepatic diseaseLiver transplantationGlycogen storage disease type ICareful patient selectionOutcome of transplantationImportant therapeutic modalityMultisystemic genetic disorderMajor hepatic diseasesUrea cycle defectsGene replacement therapyHepatic complicationsSurgical managementLiver replacementMetabolic managementPatient selectionPrimary hyperoxaluriaReplacement therapyHepatic diseaseImproved outcomesTherapeutic modalitiesMetabolic disordersMetabolic diseasesTransplantLiver results
2009
Timing of initiation of enzyme replacement therapy after diagnosis of type 1 Gaucher disease: effect on incidence of avascular necrosis
Mistry PK, Deegan P, Vellodi A, Cole JA, Yeh M, Weinreb NJ. Timing of initiation of enzyme replacement therapy after diagnosis of type 1 Gaucher disease: effect on incidence of avascular necrosis. British Journal Of Haematology 2009, 147: 561-570. PMID: 19732054, PMCID: PMC2774157, DOI: 10.1111/j.1365-2141.2009.07872.x.Peer-Reviewed Original ResearchMeSH KeywordsAdolescentAdultAge DistributionAge FactorsAgedChildChild, PreschoolDrug Administration ScheduleEnzyme Replacement TherapyFemaleGaucher DiseaseGlucosylceramidaseHumansIncidenceInfantInfant, NewbornMaleMiddle AgedOsteonecrosisRecombinant ProteinsRegistriesSex DistributionSplenectomyTime FactorsYoung AdultConceptsType 1 Gaucher diseaseYear of diagnosisAvascular necrosisIncidence rateEnzyme replacement therapyGaucher RegistryReplacement therapyInternational Collaborative Gaucher Group Gaucher RegistryRisk of AVNGaucher diseaseAdjusted incidence rate ratioInitiation of ERTIndependent risk factorIncidence rate ratiosTiming of initiationRisk factorsHigh riskPatientsDiagnosisTherapyRate ratioSplenectomyRegistryNecrosisIncidence
2007
Buts thérapeutiques dans la maladie de Gaucher Therapeutic objectives in Gaucher disease
Mistry P, Germain D. Buts thérapeutiques dans la maladie de Gaucher Therapeutic objectives in Gaucher disease. La Revue De Médecine Interne 2007, 28: 171-175. PMID: 18228683, DOI: 10.1016/s0248-8663(07)78876-8.Peer-Reviewed Original ResearchConceptsGaucher diseaseLife-threatening complicationsStandard of careMaximal clinical benefitRemarkable safety profileTreatment of GDQuality of lifeType 1 GDBone crisesLifelong treatmentClinical benefitSafety profileAsymptomatic phaseTherapeutic goalsDisease evolutionTherapeutic objectivesCareful monitoringLa maladieSkeletal damageNorth American expertsDiseaseDisease phenotypePatientsTreatmentOptimal timeConsequences of diagnostic delays in type 1 Gaucher disease: The need for greater awareness among Hematologists–Oncologists and an opportunity for early diagnosis and intervention
Mistry PK, Sadan S, Yang R, Yee J, Yang M. Consequences of diagnostic delays in type 1 Gaucher disease: The need for greater awareness among Hematologists–Oncologists and an opportunity for early diagnosis and intervention. American Journal Of Hematology 2007, 82: 697-701. PMID: 17492645, DOI: 10.1002/ajh.20908.Peer-Reviewed Original ResearchConceptsEnzyme replacement therapyDiagnostic delayGaucher diseaseType 1 Gaucher diseaseLife-threatening manifestationsLife-threatening complicationsSeries of patientsSevere disease manifestationsSurvey of patientsSevere complicationsReplacement therapyMultiple myelomaClassic symptomsFinal diagnosisDisease manifestationsDifferential diagnosisEarly diagnosisCorrect diagnosisPhysician educationPatientsAnecdotal experienceComplicationsDiagnosisSymptomsGD symptoms
2006
Phenotype variations in Gaucher disease
Mistry P, Germain DP. Phenotype variations in Gaucher disease. La Revue De Médecine Interne 2006, 27: s3-s6. PMID: 16644399, DOI: 10.1016/s0248-8663(06)80002-0.Peer-Reviewed Original ResearchConceptsGaucher diseaseClinical manifestationsMajority of patientsRate of progressionGaucher phenotypeHigh inter-individual variabilityGenotype-phenotype correlationDevastating complicationInter-individual variabilityBlood countDisease compartmentsNatural historyDiseaseGlucocerebrosidase activityN370S mutationGenetic modifiersMolecular diagnosisDiagnosisSeverityManifestationsTherapeutic goals in Gaucher disease
Mistry P, Germain DP. Therapeutic goals in Gaucher disease. La Revue De Médecine Interne 2006, 27: s30-s33. PMID: 16644400, DOI: 10.1016/s0248-8663(06)80009-3.Peer-Reviewed Original ResearchConceptsGaucher diseaseTherapeutic goalsType 1 Gaucher diseaseLong-life treatmentLife-threatening complicationsStandard of careRemarkable safety profileQuality of lifeBone crisesPrevent complicationsSafety profileAsymptomatic phaseDisease evolutionCareful monitoringDiseaseSkeletal damageComplicationsPatientsGaucher phenotypeTreatmentOptimal timeTolerabilityAmerican expertsSeverityCareEnzyme replacement therapy and bony changes in Egyptian paediatric Gaucher disease patients
El‐Beshlawy A, Ragab L, Youssry I, Yakout K, El‐Kiki H, Eid K, Mansour IM, El‐Hamid S, Yang M, Mistry PK. Enzyme replacement therapy and bony changes in Egyptian paediatric Gaucher disease patients. Journal Of Inherited Metabolic Disease 2006, 29: 92-98. PMID: 16601874, DOI: 10.1007/s10545-006-0121-6.Peer-Reviewed Original ResearchConceptsMagnetic resonance imagingBone involvementSkeletal diseaseGaucher diseaseBone painGBA genotypeReplacement therapySkeletal involvementBone diseaseComplete symptomatic remissionEarly skeletal involvementMonths of ERTAbnormal radiographic findingsCorrelation of severityGaucher disease patientsEnzyme replacement therapyPaucity of dataCrippling complicationsGenotype-phenotype correlationComplete remissionVisceral diseaseVisceral involvementRadiological manifestationsRadiographic findingsPatient population
2002
Effectiveness of enzyme replacement therapy in 1028 patients with type 1 Gaucher disease after 2 to 5 years of treatment: a report from the Gaucher Registry
Weinreb NJ, Charrow J, Andersson HC, Kaplan P, Kolodny EH, Mistry P, Pastores G, Rosenbloom BE, Scott CR, Wappner RS, Zimran A. Effectiveness of enzyme replacement therapy in 1028 patients with type 1 Gaucher disease after 2 to 5 years of treatment: a report from the Gaucher Registry. The American Journal Of Medicine 2002, 113: 112-119. PMID: 12133749, DOI: 10.1016/s0002-9343(02)01150-6.Peer-Reviewed Original ResearchMeSH KeywordsAdolescentAdultChildChild, PreschoolCohort StudiesDose-Response Relationship, DrugDrug Administration ScheduleFemaleFollow-Up StudiesGaucher DiseaseGlucosylceramidaseHemoglobinsHumansInfusions, IntravenousLiverMalePain MeasurementPlatelet CountRegistriesRisk AssessmentSpleenStatistics, NonparametricTime FactorsTreatment OutcomeConceptsType 1 Gaucher diseaseYears of treatmentEnzyme replacement therapyBone crisesBone painPlatelet countGaucher diseaseGaucher RegistryReplacement therapyMacrophage-targeted enzyme replacement therapyHemoglobin concentrationShort-term efficacyNormal platelet countFirst lysosomal storage disorderAssessment of responseTimes normal sizeBaseline thrombocytopeniaLysosomal storage disorderAnemic patientsSpleen volumeThrombocytopenic patientsSustained responseIntact spleenSerial measurementsPatients
1999
MYCOPHENOLATE MOFETIL MONOTHERAPY IN STABLE LIVER TRANSPLANT PATIENTS WITH CYCLOSPORINE-INDUCED RENAL IMPAIRMENT
Papatheodoridis G, O'Beirne J, Mistry P, Davidson B, Rolles K, Burroughs A. MYCOPHENOLATE MOFETIL MONOTHERAPY IN STABLE LIVER TRANSPLANT PATIENTS WITH CYCLOSPORINE-INDUCED RENAL IMPAIRMENT. Transplantation 1999, 68: 155-157. PMID: 10428285, DOI: 10.1097/00007890-199907150-00029.Peer-Reviewed Original ResearchConceptsStable liver transplant patientsLiver transplant patientsMajor side effectsTransplant patientsRenal impairmentMycophenolate mofetilSide effectsMycophenolate mofetil monotherapyReduction of cyclosporineSerum creatinine levelsEfficacy of monotherapyCellular rejectionIntravenous courseMaintenance immunosuppressantsMofetil monotherapyMycophenolate monotherapyCreatinine levelsSubtherapeutic levelsMonotherapyPatientsSignificant riskMonthsImpairmentMofetilCyclosporine
1991
Short report: plasma aluminium concentration and 24‐hour urinary aluminium excretion before, during and after treatment with sucralfate
MISTRY P, VARGHESE Z, POUNDER RE. Short report: plasma aluminium concentration and 24‐hour urinary aluminium excretion before, during and after treatment with sucralfate. Alimentary Pharmacology & Therapeutics 1991, 5: 549-553. PMID: 1793786, DOI: 10.1111/j.1365-2036.1991.tb00524.x.Peer-Reviewed Original ResearchConceptsUrinary aluminium excretionPlasma aluminum concentrationAluminium excretionNormal renal functionCessation of treatmentWeeks of treatmentSucralfate q.Renal functionDyspeptic patientsUrinary excretionStandard treatmentPretreatment levelsSucralfateTissue accumulationExcretionSignificant riseWeeksTreatmentSignificant increaseMicrogramsPatients