2020
Accuracy of chitotriosidase activity and CCL18 concentration in assessing type I Gaucher disease severity. A systematic review with meta-analysis of individual participant data
Raskovalova T, Deegan PB, Mistry PK, Pavlova E, Yang R, Zimran A, Berger J, Bourgne C, Pereira B, Labarere J, Berger MG. Accuracy of chitotriosidase activity and CCL18 concentration in assessing type I Gaucher disease severity. A systematic review with meta-analysis of individual participant data. Haematologica 2020, 106: 437-445. PMID: 32001533, PMCID: PMC7849573, DOI: 10.3324/haematol.2019.236083.Peer-Reviewed Original ResearchMeSH KeywordsBiomarkersChemokines, CCCross-Sectional StudiesGaucher DiseaseHexosaminidasesHumansProspective StudiesSeverity of Illness IndexConceptsIndividual participant dataCCL18 concentrationsChitotriosidase activityPrimary outcomeSystematic reviewParticipant dataProspective cohort studyEligible primary studiesPrimary studiesDisease activityBone eventsCohort studyPlatelet countGD patientsSpleen volumeLiver volumeClinical assessmentVisceral parametersGD severityPatientsHemoglobin concentrationRoutine practiceDisease severityLimited sample sizeGD activity
2017
Plasma chitotriosidase activity versus CCL18 level for assessing type I Gaucher disease severity: protocol for a systematic review with meta-analysis of individual participant data
Raskovalova T, Deegan PB, Yang R, Pavlova E, Stirnemann J, Labarère J, Zimran A, Mistry PK, Berger M. Plasma chitotriosidase activity versus CCL18 level for assessing type I Gaucher disease severity: protocol for a systematic review with meta-analysis of individual participant data. Systematic Reviews 2017, 6: 87. PMID: 28427477, PMCID: PMC5397740, DOI: 10.1186/s13643-017-0483-x.Peer-Reviewed Original ResearchConceptsPlasma chitotriosidase activityIndividual participant dataChitotriosidase activitySystematic reviewCCL18 levelsPlatelet countSpleen volumeHemoglobin concentrationDisease severityCC chemokine ligand 18Participant dataCochrane Central RegisterDiagnostic Accuracy Studies-2 toolChemokine ligand 18Collaborative systematic reviewWide clinical spectrumConfidence intervalsUnpredictable natural courseGD activityEffect size estimatesAutosomal recessive lysosomal storage disorderRecessive lysosomal storage disorderLarge-scale headCentral RegisterLysosomal storage disorder
2013
Calcium Ameliorates Diarrhea in Immunocompromised Children
Cheng SX, Bai HX, Gonzalez‐Peralta R, Mistry PK, Gorelick FS. Calcium Ameliorates Diarrhea in Immunocompromised Children. Journal Of Pediatric Gastroenterology And Nutrition 2013, 56: 641-644. PMID: 23343935, PMCID: PMC4448079, DOI: 10.1097/mpg.0b013e3182868946.Peer-Reviewed Original ResearchMeSH KeywordsAdolescentAntidiarrhealsCalcium, DietaryChildDiarrheaDiarrhea, InfantileDietary SupplementsFemaleHumansImmunocompromised HostInfantMaleSeverity of Illness IndexTreatment Outcome
2012
Genome‐wide association study of N370S homozygous Gaucher disease reveals the candidacy of CLN8 gene as a genetic modifier contributing to extreme phenotypic variation
Zhang CK, Stein PB, Liu J, Wang Z, Yang R, Cho JH, Gregersen PK, Aerts JM, Zhao H, Pastores GM, Mistry PK. Genome‐wide association study of N370S homozygous Gaucher disease reveals the candidacy of CLN8 gene as a genetic modifier contributing to extreme phenotypic variation. American Journal Of Hematology 2012, 87: 377-383. PMID: 22388998, PMCID: PMC3684025, DOI: 10.1002/ajh.23118.Peer-Reviewed Original ResearchMeSH KeywordsAllelesCells, CulturedEpistasis, GeneticFemaleFibroblastsGaucher DiseaseGenome-Wide Association StudyGenotypeGermanyGlucosylceramidaseHomozygoteHumansJewsMacrophagesMaleMembrane ProteinsMiddle AgedMutation, MissensePhenotypePolymorphism, Single NucleotidePsychosineSeverity of Illness IndexConceptsGaucher diseaseType 1 Gaucher's diseaseMild Gaucher diseaseSevere disease categoryCandidate modifier genesGlucosylceramide-laden macrophagesAshkenazi Jewish patientsRisk allele ACultured skin fibroblastsEligible patientsMild diseaseOdds ratioSevere diseaseGBA1 mutationsPatientsJewish patientsDisease severityDisease categoriesCLN8 geneRisk allelesDiseaseN370S mutationSeveritySkin fibroblastsGenetic modifiers
2010
Hyperferritinemia and iron overload in type 1 Gaucher disease
Stein P, Yu H, Jain D, Mistry PK. Hyperferritinemia and iron overload in type 1 Gaucher disease. American Journal Of Hematology 2010, 85: 472-476. PMID: 20575041, PMCID: PMC2895498, DOI: 10.1002/ajh.21721.Peer-Reviewed Original ResearchConceptsEnzyme replacement therapyType 1 Gaucher's diseaseSystemic iron overloadIron overloadGaucher diseaseLiver biopsySerum ferritinReplacement therapyTransferrin saturationHFE genotypeHFE mutationsType 1 Gaucher diseaseSubset of patientsSeverity Score IndexCorrelation of ferritinClinical iron overloadSevere hyperferritinemiaDisease activityPrior splenectomyFerritin levelsClinical spectrumHFE genotypingLiver volumeIntact spleenHigh prevalenceThe 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
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
2005
Individualization of long-term enzyme replacement therapy for Gaucher disease
Andersson HC, Charrow J, Kaplan P, Mistry P, Pastores GM, Prakesh-Cheng A, Rosenbloom BE, Scott CR, Wappner RS, Weinreb NJ. Individualization of long-term enzyme replacement therapy for Gaucher disease. Genetics In Medicine 2005, 7: 105-110. PMID: 15714077, DOI: 10.1097/01.gim.0000153660.88672.3c.Peer-Reviewed Original ResearchConceptsEnzyme replacement therapyGaucher diseaseReplacement therapyLong-term enzyme replacement therapyType 1 Gaucher diseaseSubsequent dose adjustmentCommon lysosomal storage disorderExtensive clinical experienceSeverity of diseaseMultiple organ systemsQuality of lifeMannose-terminated glucocerebrosidaseImplementation of treatmentImiglucerase treatmentLysosomal storage disorderDose adjustmentPulmonary diseaseTherapeutic responseIndividual patientsTherapeutic goalsClinical experienceGrowth retardationOrgan systemsDiseasePatients