2020
Gaucher disease and SARS-CoV-2 infection: Experience from 181 patients in New York
Fierro L, Nesheiwat N, Naik H, Narayanan P, Mistry PK, Balwani M. Gaucher disease and SARS-CoV-2 infection: Experience from 181 patients in New York. Molecular Genetics And Metabolism 2020, 132: 44-48. PMID: 33353808, PMCID: PMC7834197, DOI: 10.1016/j.ymgme.2020.12.288.Peer-Reviewed Original ResearchConceptsSARS-CoV-2 infectionSARS-CoV-2Gaucher diseaseAcid β-glucosidase activitySARS-CoV-2 nucleic acidCOVID-19-specific treatmentsMajority of patientsChronic inflammatory stateCross-sectional studyHigher antibody responseCOVID-19 symptomsCOVID-19 exposureRare disease populationSubset of adultsGBA genotypeQuantitative titersPrior splenectomyAntibody testingHigh morbidityImmune activationInflammatory statePrimary exposureAntibody responseChronic disordersMale gender
2019
Etiology 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 adults
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 patientsRisk Factors Associated With Biliary Pancreatitis in Children
H. M, Bai HX, Park AJ, Latif SU, Mistry PK, Pashankar D, Northrup VS, Bhandari V, Husain SZ. Risk Factors Associated With Biliary Pancreatitis in Children. Journal Of Pediatric Gastroenterology And Nutrition 2012, 54: 651-656. PMID: 22002481, PMCID: PMC3626418, DOI: 10.1097/mpg.0b013e31823a897d.Peer-Reviewed Original ResearchConceptsBiliary pancreatitisRisk factorsIndependent predictorsAspartate aminotransferaseTertiary care hospitalManagement of childrenMultiple logistic regressionMedian serum amylaseCare hospitalProspective studyAcute pancreatitisSerum amylaseHispanic ethnicityPancreatitisTimes higher probabilityGallstonesGallstone casesLogistic regressionOlder childrenHispanic childrenObesityChildrenOptimal evaluationAminotransferaseBlack children
2010
The 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
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
2002
Pulmonary hypertension in type 1 Gaucher’s disease: genetic and epigenetic determinants of phenotype and response to therapy
Mistry PK, Sirrs S, Chan A, Pritzker MR, Duffy TP, Grace ME, Meeker DP, Goldman ME. Pulmonary hypertension in type 1 Gaucher’s disease: genetic and epigenetic determinants of phenotype and response to therapy. Molecular Genetics And Metabolism 2002, 77: 91-98. PMID: 12359135, DOI: 10.1016/s1096-7192(02)00122-1.Peer-Reviewed Original ResearchConceptsType 1 Gaucher's diseaseSevere pulmonary hypertensionLife-threatening pulmonary hypertensionRight ventricular systolic pressurePulmonary hypertensionGaucher diseaseAsymptomatic pulmonary hypertensionCharacteristics of patientsHigh-risk patientsVentricular systolic pressureEnzyme gene polymorphismACE I alleleAdditional genetic factorsLung transplantationUntreated patientsTransplant candidatesConsecutive patientsSystolic pressureTertiary referralDoppler echocardiographyReplacement therapyClinical spectrumPoor complianceGD patientsGBA mutations
1998
Ulcerative colitis has an aggressive course after orthotopic liver transplantation for primary sclerosing cholangitis
Papatheodoridis GV, Hamilton M, Mistry PK, Davidson B, Rolles K, Burroughs AK. Ulcerative colitis has an aggressive course after orthotopic liver transplantation for primary sclerosing cholangitis. Gut 1998, 43: 639. PMID: 9824344, PMCID: PMC1727300, DOI: 10.1136/gut.43.5.639.Peer-Reviewed Original ResearchConceptsPrimary sclerosing cholangitisInflammatory bowel diseaseLong-term steroidsUlcerative colitisSclerosing cholangitisBowel diseaseLiver transplantationAggressive courseTerm steroidsDe novo ulcerative colitisNew-onset ulcerative colitisInflammatory bowel disease activityBowel disease activityOnset ulcerative colitisOrthotopic liver transplantationEarly colorectal neoplasmsMaintenance immunosuppressionQuiescent courseDisease activityTransplant patientsPrevious colectomyColorectal cancerColorectal neoplasmsColitisPatients