2023
Liver Transplantation for Mahvash Disease, an Inborn Error of Metabolism
Mistry P, Garcia-Tsao G. Liver Transplantation for Mahvash Disease, an Inborn Error of Metabolism. New England Journal Of Medicine 2023, 389: 2010-2013. PMID: 37991861, DOI: 10.1056/nejme2310332.Peer-Reviewed Original ResearchAdvancing diagnosis and management of liver disease in adults through exome sequencing
Zheng M, Hakim A, Konkwo C, Deaton A, Ward L, Genetics A, Silveira M, Assis D, Liapakis A, Jaffe A, Jiang Z, Curry M, Lai M, Cho M, Dykas D, Bale A, Mistry P, Vilarinho S. Advancing diagnosis and management of liver disease in adults through exome sequencing. EBioMedicine 2023, 95: 104747. PMID: 37566928, PMCID: PMC10433007, DOI: 10.1016/j.ebiom.2023.104747.Peer-Reviewed Original ResearchConceptsLiver diseaseWhole-exome sequencingUnknown etiologyTertiary referral academic medical centerReferral academic medical centerExome sequencingLiver disease patientsManagement of adultsAcademic health care centerComprehensive clinical evaluationHealth care centersAcademic medical centerGenetic variantsRare genetic variantsAdult patientsLiver centersHepatic steatosisDisease patientsClinical evaluationCare centerFamily historyMedical CenterClinical valueAdult medicinePatientsEgyptian Gaucher disease type 3 patients: a large cohort study spanning two decades
El-Beshlawy A, Abdel-Azim K, Abdel-Salam A, Selim Y, Said F, Gebril N, Fateen E, Mistry P. Egyptian Gaucher disease type 3 patients: a large cohort study spanning two decades. Journal Of Rare Diseases 2023, 2: 7. DOI: 10.1007/s44162-023-00011-0.Peer-Reviewed Original ResearchGD type 3Enzyme replacement therapyYears of ERTLarge single-center studySingle-center studyThird of patientsOverall survival ratePediatric hematology clinicLong-term outcomesLarge cohort studyBulbar symptomsGD3 patientsHepatopulmonary syndromeCohort studyEgyptian patientsLiver cirrhosisHematology clinicNeurological assessmentSevere thrombocytopeniaReplacement therapySevere splenomegalyFamily historyGenotype/phenotype studiesSevere hepatomegalyPatientsChanges in hematologic and visceral manifestations over time following imiglucerase initiation in Gaucher disease type 1 and type 3 pediatric patients in the ICGG Gaucher Registry
Mistry P, Bianculli P, Batsu I, Heine W, Oliveira-dos-Santos A, Minini P, Batista J. Changes in hematologic and visceral manifestations over time following imiglucerase initiation in Gaucher disease type 1 and type 3 pediatric patients in the ICGG Gaucher Registry. Molecular Genetics And Metabolism 2023, 138: 107225. DOI: 10.1016/j.ymgme.2022.107225.Peer-Reviewed Original Research
2022
Long-term effects of eliglustat on skeletal manifestations in clinical trials of patients with Gaucher disease type 1
Cox T, Charrow J, Lukina E, Mistry P, Foster M, Peterschmitt M. Long-term effects of eliglustat on skeletal manifestations in clinical trials of patients with Gaucher disease type 1. Genetics In Medicine 2022, 25: 100329. PMID: 36469032, DOI: 10.1016/j.gim.2022.10.011.Peer-Reviewed Original ResearchConceptsTreatment-naïve patientsHealthy reference rangeEnzyme replacement therapyReference rangeClinical trialsSkeletal manifestationsLong-term effectsEliglustat treatmentLumbar spine T-scoreGaucher disease type 1Bone marrow burden scoreLong-term efficacySpine T-scoreDisease type 1Bone painSkeletal complicationsTreatment-naïveMost patientsBone outcomesMIP-1βBurden scoreReplacement therapyPatientsTreatment durationT-score
2021
The clinical spectrum of SARS-CoV-2 infection in Gaucher disease: Effect of both a pandemic and a rare disease that disrupts the immune system
Narayanan P, Nair S, Balwani M, Malinis M, Mistry P. The clinical spectrum of SARS-CoV-2 infection in Gaucher disease: Effect of both a pandemic and a rare disease that disrupts the immune system. Molecular Genetics And Metabolism 2021, 135: 115-121. PMID: 34412940, PMCID: PMC8361210, DOI: 10.1016/j.ymgme.2021.08.004.Peer-Reviewed Case Reports and Technical NotesConceptsSARS-CoV-2 infectionType 1 Gaucher diseaseSARS-CoV-2Gaucher diseaseRare diseaseCOVID-19Immune system dysfunctionRare disease populationMedian agePediatric patientsCase seriesFemale patientsAdverse outcomesClinical spectrumIntensive careGD patientsSystem dysfunctionRetrospective analysisDisease populationHigh riskGeneral populationPatientsImmune systemDiseaseSimilar frequencyMiglustat Therapy for SCARB2-Associated Action Myoclonus–Renal Failure Syndrome
Quraishi IH, Szekely AM, Shirali AC, Mistry PK, Hirsch LJ. Miglustat Therapy for SCARB2-Associated Action Myoclonus–Renal Failure Syndrome. Neurology Genetics 2021, 7: e614. PMID: 34337151, PMCID: PMC8320328, DOI: 10.1212/nxg.0000000000000614.Peer-Reviewed Original ResearchAction myoclonus-renal failure syndromeNeurologic symptomsAction myoclonusFailure syndromeProgressive myoclonic epilepsySubstrate reduction therapyWhole-exome sequencingMiglustat therapyAvailable medicationsEarly mortalityReduction therapyMyoclonic epilepsySteady worseningGaucher diseaseMyoclonusGlycosphingolipid metabolismExome sequencingGene mutationsGlucosylceramide accumulationPatientsSeizuresMiglustatSyndromeTherapySymptomsClinical outcomes after 4.5 years of eliglustat therapy for Gaucher disease type 1: Phase 3 ENGAGE trial final results
Mistry PK, Lukina E, Turkia H, Shankar SP, Feldman H, Ghosn M, Mehta A, Packman S, Lau H, Petakov M, Assouline S, Balwani M, Danda S, Hadjiev E, Ortega A, Foster MC, Gaemers SJM, Peterschmitt MJ. Clinical outcomes after 4.5 years of eliglustat therapy for Gaucher disease type 1: Phase 3 ENGAGE trial final results. American Journal Of Hematology 2021, 96: 1156-1165. PMID: 34161616, PMCID: PMC8457136, DOI: 10.1002/ajh.26276.Peer-Reviewed Original ResearchConceptsDisease type 1Gaucher disease type 1Type 1Disease manifestationsENGAGE trialOpen-label extension periodOral substrate reduction therapySpine T-scoreYears of treatmentSubstrate reduction therapyMagnitude of improvementEliglustat therapyMean hemoglobinUntreated patientsAdverse eventsTrial cohortClinical outcomesEligible adultsPlatelet countUntreated adultsSpleen volumeLiver volumeHematologic parametersReduction therapyPatientsCOVID-19 patient impact: A survey of the Gaucher community involving patients, caregivers and family members based in the US to determine impact of the pandemic
Ryan E, Lopez G, Balwani M, Barbouth D, Burrow T, Ginns E, Goker-Alpan O, Grabowski G, Kartha R, Kishnani P, Lau H, Lee C, Mistry P, Maegawa G, Packman S, Prada C, Rosenbloom B, Lal T, Schiffmann R, Weinreb N, Sidransky E. COVID-19 patient impact: A survey of the Gaucher community involving patients, caregivers and family members based in the US to determine impact of the pandemic. Molecular Genetics And Metabolism 2021, 132: s93. PMCID: PMC7849417, DOI: 10.1016/j.ymgme.2020.12.223.Peer-Reviewed Original Research
2020
Glucosylsphingosine but not Saposin C, is the target antigen in Gaucher disease-associated gammopathy
Nair S, Bar N, Xu ML, Dhodapkar M, Mistry PK. Glucosylsphingosine but not Saposin C, is the target antigen in Gaucher disease-associated gammopathy. Molecular Genetics And Metabolism 2020, 129: 286-291. PMID: 32044242, PMCID: PMC8223251, DOI: 10.1016/j.ymgme.2020.01.009.Peer-Reviewed Original ResearchConceptsGaucher disease type 1Monoclonal gammopathyAntigenic targetsClonal immunoglobulinDisease type 1B cell activationAccumulation of glucosylceramideGD1 patientsImmunogenic lipidsMetabolic inflammationMultiple myelomaGD patientsHigh riskTarget antigenCell activationImmunoglobulin typeGammopathyType 1PatientsGenetic deficiencyAge-related phenotypesSaposin CClonal IgLysosomal glucocerebrosidaseGlcSphAccuracy 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 ResearchConceptsIndividual 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
2019
Exome Sequencing in Clinical Hepatology
Vilarinho S, Mistry PK. Exome Sequencing in Clinical Hepatology. Hepatology 2019, 70: 2185-2192. PMID: 31222768, PMCID: PMC6885087, DOI: 10.1002/hep.30826.BooksConceptsWhole-exome sequencingClinical diagnosisUtility of WESCare of patientsCongenital chloride diarrheaLiver clinicLiver diseaseClinical hepatologyDefinitive diagnosisNovel genetic disorderPediatric disordersClinical relevanceChloride diarrheaSalt-wasting diseaseExome sequencingDiagnosisGenetic disordersDiseaseDisordersPractice of medicineNumerous studiesDiarrheaPatientsHepatologyClinicEtiology of cirrhosis in the young
Olave MC, Gurung A, Mistry PK, Kakar S, Yeh M, Xu M, Wu TT, Torbenson M, Jain D. Etiology of cirrhosis in the young. Human Pathology 2019, 96: 96-103. PMID: 31698008, DOI: 10.1016/j.humpath.2019.09.015.Peer-Reviewed Original ResearchConceptsEtiology of cirrhosisCommon causeCryptogenic cirrhosisViral hepatitidesAge groupsMulti-institutional retrospective studyYears age group childrenIncidence of cirrhosisCause of cirrhosisFatty liver diseaseDiagnosis of cirrhosisAge group childrenCongenital cholestatic diseasesClinical chartsYounger patientsLiver diseasePathology databaseRetrospective studyCholestatic diseasePathology reportsCirrhosisMetabolic disordersPatientsScant dataYoung adultsReversal of life-threatening hepatopulmonary syndrome in Gaucher disease by imiglucerase enzyme replacement therapy
Beshlawy AE, Murugesan V, Mistry PK, Eid K. Reversal of life-threatening hepatopulmonary syndrome in Gaucher disease by imiglucerase enzyme replacement therapy. Molecular Genetics And Metabolism Reports 2019, 20: 100490. PMID: 31309038, PMCID: PMC6606832, DOI: 10.1016/j.ymgmr.2019.100490.Peer-Reviewed Original ResearchImiglucerase enzyme replacement therapyEnzyme replacement therapyHepatopulmonary syndromeReplacement therapyGaucher diseaseLiver diseaseRecombinant enzyme replacement therapyAdvanced liver diseaseLife-threatening complicationsAdvanced fibrosisFibrotic featuresMassive hepatomegalySplenectomized patientsClinical manifestationsEnzyme therapySyndromeTherapyDisease pathologyDiseaseComplicationsMacrophagesCirrhosisHepatomegalyPatientsFibrosisGaucher disease in Montenegro - genotype/phenotype correlations: Five cases report
Vujosevic S, Medenica S, Vujicic V, Dapcevic M, Bakic N, Yang R, Liu J, Mistry PK. Gaucher disease in Montenegro - genotype/phenotype correlations: Five cases report. World Journal Of Clinical Cases 2019, 7: 1475-1482. PMID: 31363476, PMCID: PMC6656677, DOI: 10.12998/wjcc.v7.i12.1475.Peer-Reviewed Original ResearchEnzyme replacement therapyGaucher diseaseType 1 Gaucher diseaseDeposition of glucocerebrosideGene mutationsCommon lysosomal storage disorderBone mineral densityErlenmeyer flask deformityBone painAbdominal painLysosomal storage disorderReplacement therapyMineral densityVisceral parametersDistal femurPatientsSignificant progressionClinical phenotypeSystem cellsBiallelic mutationsStorage disorderLysosomal glucocerebrosidasePainPhenotype correlationSymptomsEffects of oral eliglustat on skeletal manifestations in patients with type 1 Gaucher disease: Results from four completed clinical trials after long-term treatment
Cox T, Charrow J, Lukina E, Mistry P, Marinakis T, Foster M, Gaemers S, Peterschmitt M. Effects of oral eliglustat on skeletal manifestations in patients with type 1 Gaucher disease: Results from four completed clinical trials after long-term treatment. Molecular Genetics And Metabolism 2019, 126: s43. DOI: 10.1016/j.ymgme.2018.12.091.Peer-Reviewed Original Research
2016
Validating glycoprotein non-metastatic melanoma B (gpNMB, osteoactivin), a new biomarker of Gaucher disease
Murugesan V, Liu J, Yang R, Lin H, Lischuk A, Pastores G, Zhang X, Chuang WL, Mistry PK. Validating glycoprotein non-metastatic melanoma B (gpNMB, osteoactivin), a new biomarker of Gaucher disease. Blood Cells Molecules And Diseases 2016, 68: 47-53. PMID: 28003098, PMCID: PMC5468511, DOI: 10.1016/j.bcmd.2016.12.002.Peer-Reviewed Original ResearchConceptsGaucher diseaseSerum levelsMelanoma BImiglucerase enzyme replacement therapyCohort of patientsEnzyme replacement therapyOverall disease severityGPNMB levelsDisease activityUntreated patientsReplacement therapyDisease miceDisease progressionIndividual patientsLarge cohortHematological diseasesStriking elevationPatientsNew biomarkersDisease pathophysiologyDisease severityDiseaseOrgan compartmentsBiomarkersDisease mechanismsClinical implications of Paracoccus yeeii bacteremia in a patient with decompensated cirrhosis
Sack J, Peaper DR, Mistry P, Malinis M. Clinical implications of Paracoccus yeeii bacteremia in a patient with decompensated cirrhosis. IDCases 2016, 7: 9-10. PMID: 27920982, PMCID: PMC5133649, DOI: 10.1016/j.idcr.2016.11.008.Peer-Reviewed Case Reports and Technical NotesThird-generation cephalosporinsDecompensated cirrhosisVariceal hemorrhageGeneration cephalosporinsProphylactic antimicrobial treatmentDrug-resistant organismsAdvanced cirrhosisGastrointestinal hemorrhageClinical sepsisNegative patientsRare infectionUncommon organismsInfectious sourceCirrhosisPatientsResistant organismsAntimicrobial treatmentClinical implicationsHemorrhageNegative organismsBacteremiaFirst caseInfectionCephalosporinsRoscoe Owen Brady, MD: Remembrances of co-investigators and colleagues
Desnick RJ, Barton NW, Furbish S, Grabowski GA, Karlsson S, Kolodny EH, Medin JA, Murray GJ, Mistry PK, Patterson MC, Schiffmann R, Weinreb NJ. Roscoe Owen Brady, MD: Remembrances of co-investigators and colleagues. Molecular Genetics And Metabolism 2016, 120: 1-7. PMID: 27866832, DOI: 10.1016/j.ymgme.2016.10.010.Peer-Reviewed Original ResearchGlucosylsphingosine is a key biomarker of Gaucher disease
Murugesan V, Chuang W, Liu J, Lischuk A, Kacena K, Lin H, Pastores GM, Yang R, Keutzer J, Zhang K, Mistry PK. Glucosylsphingosine is a key biomarker of Gaucher disease. American Journal Of Hematology 2016, 91: 1082-1089. PMID: 27441734, PMCID: PMC5234703, DOI: 10.1002/ajh.24491.Peer-Reviewed Original ResearchConceptsEnzyme replacement therapyLyso-GL1GD type 1Gaucher diseasePropensity scoreUntreated GD patientsWilcoxon Mann-Whitney testAccumulation of glucosylceramideMann-Whitney testTreatment modeImmune dysregulationCCL18 levelsReplacement therapyGD patientsHealthy controlsPropensity scoringPatientsSkeletal diseaseType 1Comparable groupsMarked reductionMultiple linear regressionSignificant predictorsKey biomarkersLinear regression