2023
The risk of hepatocellular carcinoma is markedly increased in Gaucher disease
Basiri M, Ruan J, Nair S, Lau H, Mistry P, Taddei T. The risk of hepatocellular carcinoma is markedly increased in Gaucher disease. Molecular Genetics And Metabolism 2023, 138: 107022. DOI: 10.1016/j.ymgme.2022.107022.Peer-Reviewed Original Research
2013
Gaucher Disease and Malignancy: A Model for Cancer Pathogenesis in an Inborn Error of Metabolism
Mistry PK, Taddei T, Dahl S, Rosenbloom BE. Gaucher Disease and Malignancy: A Model for Cancer Pathogenesis in an Inborn Error of Metabolism. Critical Reviews™ In Oncogenesis 2013, 18: 235-246. PMID: 23510066, PMCID: PMC4437216, DOI: 10.1615/critrevoncog.2013006145.BooksConceptsEnzyme replacement therapyCancer riskGaucher diseaseMacrophage-targeted enzyme replacement therapyChronic B-cell stimulationCancer pathogenesisType 1 Gaucher diseaseSubset of patientsT cell dysfunctionNon-hematological malignanciesOverall cancer riskRisk of cancerNovel therapeutic targetPolarization of macrophagesDeterminant of malignancyB cell stimulationAccumulation of glucosylceramideEndoplasmic reticulum stressLysosomal storage disorderImmune dysregulationChronic inflammationIncreased prevalenceReplacement therapyMultiple myelomaConsecutive cancers
2010
High incidence of cholesterol gallstone disease in type 1 Gaucher disease: characterizing the biliary phenotype of type 1 Gaucher disease
Taddei TH, Dziura J, Chen S, Yang R, Hyogo H, Sullards C, Cohen DE, Pastores G, Mistry PK. High incidence of cholesterol gallstone disease in type 1 Gaucher disease: characterizing the biliary phenotype of type 1 Gaucher disease. Journal Of Inherited Metabolic Disease 2010, 33: 291-300. PMID: 20354791, PMCID: PMC3008397, DOI: 10.1007/s10545-010-9070-1.Peer-Reviewed Original ResearchConceptsPrevalence of gallstonesType 1 Gaucher diseaseBody mass indexBile lipid analysisGaucher diseaseLipoprotein cholesterolHigh low-density lipoprotein cholesterolLow high-density lipoprotein cholesterolHigh-density lipoprotein cholesterolLow-density lipoprotein cholesterolMultiple logistic regression analysisType 1 Gaucher's diseaseBile lipid compositionBiliary lipid secretionCholesterol gallstone diseaseLogistic regression analysisMetabolic syndromeGallstone diseaseLDL cholesterolStudy cohortLipoprotein profileMass indexFemale sexBile compositionBiliary lipids
2009
The underrecognized progressive nature of N370S Gaucher disease and assessment of cancer risk in 403 patients
Taddei TH, Kacena KA, Yang M, Yang R, Malhotra A, Boxer M, Aleck KA, Rennert G, Pastores GM, Mistry PK. The underrecognized progressive nature of N370S Gaucher disease and assessment of cancer risk in 403 patients. American Journal Of Hematology 2009, 84: 208-214. PMID: 19260119, PMCID: PMC3008404, DOI: 10.1002/ajh.21362.Peer-Reviewed Original ResearchMeSH KeywordsAdolescentAdultAge of OnsetBone Diseases, MetabolicChildCross-Sectional StudiesDisease ProgressionFemaleGaucher DiseaseGenetic HeterogeneityGenetic Predisposition to DiseaseGenotypeGlucosylceramidaseHumansHypergammaglobulinemiaIncidenceJewsMaleMiddle AgedMultiple MyelomaMutation, MissenseNeoplasmsOrgan SpecificityPhenotypePoint MutationRiskVisceraYoung AdultConceptsMultiple myelomaGaucher diseaseSkeletal diseaseRelative riskCancer riskType 1 Gaucher's diseaseCommon lysosomal storage disorderCross-sectional studyOverall cancer riskProgressive skeletal diseaseAdaptive immune systemLysosomal storage disorderAdult patientsEntire cohortLifetime riskNatural courseHematologic malignanciesRelative sparingHematologic diseasesHigh riskHigh incidencePatientsGBA1 geneHomozygous patientsImmune system
2008
Inherited metabolic disease of the liver
Taddei T, Mistry P, Schilsky ML. Inherited metabolic disease of the liver. Current Opinion In Gastroenterology 2008, 24: 278-286. PMID: 18408455, DOI: 10.1097/mog.0b013e3282fcbc0f.Books
2007
Increased T-Cell Sinusoidal Lymphocytosis in Liver Biopsies in Patients With Chronic Hepatitis C and Mixed Cryoglobulinemia
Carmack S, Taddei T, Robert ME, Mistry P, Jain D. Increased T-Cell Sinusoidal Lymphocytosis in Liver Biopsies in Patients With Chronic Hepatitis C and Mixed Cryoglobulinemia. The American Journal Of Gastroenterology 2007, 103: ajg200850138. PMID: 17970837, DOI: 10.1111/j.1572-0241.2007.01603.x.Peer-Reviewed Original ResearchConceptsPresence of MCMixed cryoglobulinemiaLiver biopsySinusoidal lymphocytosisSinusoidal lymphocytesChronic hepatitis C patientsHepatitis C virus infectionKupffer cell countsMean fibrosis stageOngoing antigenic stimulationC virus infectionChronic hepatitis CChronic hepatitis C.Hepatitis C patientsRisk of lymphomaCD8-positive cellsNumber of CD68Low viral loadStage of fibrosisT-cell lymphocytesC patientsHepatitis CMC patientsHepatitis C.Lymphocyte count