2012
Disease state awareness in Gaucher disease: a Q&A expert roundtable discussion.
Mistry PK, Weinthal JA, Weinreb NJ. Disease state awareness in Gaucher disease: a Q&A expert roundtable discussion. Clinical Advances In Hematology And Oncology 2012, 10: 1-16. PMID: 22895100.Peer-Reviewed Original ResearchConceptsGaucher diseaseType 2 Gaucher's diseaseDisease state awarenessNon-neuronopathic diseaseVariable neurologic manifestationsRisk of complicationsType 3 diseaseCentral nervous systemExpert roundtable discussionQuality of lifeLysosomal enzyme glucocerebrosidaseRange of signsSkeletal complicationsLysosomal storage disorderNeurologic complicationsNeurologic manifestationsAshkenazi Jewish descentHematologic manifestationsHematologic sequelaeOcular effectsAccumulation of glycolipidsOncology cliniciansDifferential diagnosisAppropriate treatmentEarly diagnosis
2010
Focal splenic lesions in type I Gaucher disease are associated with poor platelet and splenic response to macrophage‐targeted enzyme replacement therapy
Stein P, Malhotra A, Haims A, Pastores GM, Mistry PK. Focal splenic lesions in type I Gaucher disease are associated with poor platelet and splenic response to macrophage‐targeted enzyme replacement therapy. Journal Of Inherited Metabolic Disease 2010, 33: 769-774. PMID: 20683668, PMCID: PMC3008694, DOI: 10.1007/s10545-010-9175-6.Peer-Reviewed Original ResearchConceptsFocal splenic lesionsEnzyme replacement therapyGD1 patientsReplacement therapySplenic lesionsMacrophage-targeted enzyme replacement therapyPlatelet responseYears of ERTPrevalence of osteonecrosisGaucher disease type IDeterminants of responseType IPoor plateletsAvascular osteonecrosisSuboptimal responseSevere manifestationsSplenic responseIntact spleenClinical significanceSplenic parenchymaPatientsWorse thrombocytopeniaRoutine evaluationSplenomegalyTherapy
1991
Prognostic significance of the white nipple sign in variceal bleeding
Siringo S, McCormick PA, Mistry P, Kaye G, Mclntyre N, Burroughs AK. Prognostic significance of the white nipple sign in variceal bleeding. Gastrointestinal Endoscopy 1991, 37: 51-55. PMID: 2004684, DOI: 10.1016/s0016-5107(91)70621-4.Peer-Reviewed Original ResearchConceptsPrognostic significanceWhite nipple signVariceal bleedingAdverse prognostic significanceEarly rebleedingEmergency sclerotherapyStapler transectionCirrhotic patientsSeparate admissionsEsophageal varicesVasoactive drugsConservative measuresSpontaneous cessationPredictive valueAdmissionStandardized protocolVaricesBleedingNippleSignsRebleedingSclerotherapyTransfusionFailurePatients