2022
Major Depressive Disorder in an International Multisite Wilson Disease Registry
Camarata M, Ala A, Coskun A, Deng Y, Embel V, Gonzalez-Peralta R, Maciejewski K, Patel A, Rubman S, To U, Tomlin R, Schilsky M, Zimbrean P. Major Depressive Disorder in an International Multisite Wilson Disease Registry. Journal Of The Academy Of Consultation-Liaison Psychiatry 2022, 64: 106-117. PMID: 36521682, DOI: 10.1016/j.jaclp.2022.12.001.Peer-Reviewed Original ResearchConceptsMajor depressive disorderWilson's diseaseDepressive disorderLifetime major depressive disorderMental health QOLPhysical health QoLMajor depressive episodeMental health qualityStructured psychiatric evaluationSignificant differencesCross-sectional reportsLiver testsLiver diseaseNeurological assessmentLife scoresClinical correlatesDepressive episodePsychiatric symptomsPsychiatric evaluationDisease RegistrySevere anxietyLaboratory testsLifetime historySignificant associationPatients
2021
Coagulopathy, Bleeding Events, and Outcome According to Rotational Thromboelastometry in Patients With Acute Liver Injury/Failure
Stravitz RT, Fontana RJ, Meinzer C, Durkalski‐Mauldin V, Hanje AJ, Olson J, Koch D, Hamid B, Schilsky M, McGuire B, Ganger D, Liou I, Karvellas CJ, Rule JA, Lisman T, Clasen K, Reuben A, Cripps M, Lee WM, Group A. Coagulopathy, Bleeding Events, and Outcome According to Rotational Thromboelastometry in Patients With Acute Liver Injury/Failure. Hepatology 2021, 74: 937-949. PMID: 33636020, PMCID: PMC10668528, DOI: 10.1002/hep.31767.Peer-Reviewed Original ResearchConceptsALI/ALFROTEM parametersRotational thromboelastometryDisease severityAcute liver injury/failureAbnormal hemostatic profileSevere systemic complicationsAcute liver injuryBleeding eventsBleeding riskLiver transplantationSystemic complicationsHemostatic failureLiver injuryIllness severityNative liverAbnormal hemostasisHemostatic profileStudy groupHigh incidencePatientsNormal rangeLaboratory evidenceClot formationClot stability
2015
Prospective Pilot Study of a Single Daily Dosage of Trientine for the Treatment of Wilson Disease
Ala A, Aliu E, Schilsky ML. Prospective Pilot Study of a Single Daily Dosage of Trientine for the Treatment of Wilson Disease. Digestive Diseases And Sciences 2015, 60: 1433-1439. PMID: 25605552, PMCID: PMC4427615, DOI: 10.1007/s10620-014-3495-6.Peer-Reviewed Original ResearchMeSH KeywordsAdministration, OralAdultAgedChelating AgentsDrug Administration ScheduleFemaleHepatolenticular DegenerationHumansMaleMedication AdherenceMiddle AgedPatient DropoutsPatient SatisfactionPilot ProjectsProspective StudiesSurveys and QuestionnairesTime FactorsTreatment OutcomeTrientineYoung AdultConceptsSingle daily doseWilson's diseaseDaily doseDaily treatment regimenStable Wilson's diseaseProspective pilot studyLiver synthetic functionSingle daily dosageEnd of treatmentResultsAll patientsMaintenance therapyTreatment regimenDaily dosageLifelong therapyLarge trialsZinc excretionUrine copperTreatment stoppageSide effectsTreatment efficacyTrientineTherapyPatientsPilot studyDiseaseTherapeutic hypothermia in acute liver failure: A multicenter retrospective cohort analysis
Karvellas CJ, Stravitz R, Battenhouse H, Lee WM, Schilsky ML, Group F. Therapeutic hypothermia in acute liver failure: A multicenter retrospective cohort analysis. Liver Transplantation 2015, 21: 4-12. PMID: 25308108, PMCID: PMC4939841, DOI: 10.1002/lt.24021.Peer-Reviewed Original ResearchMeSH KeywordsAcetaminophenAdultAnalgesics, Non-NarcoticBrain EdemaChemical and Drug Induced Liver InjuryChi-Square DistributionFemaleHumansHypothermia, InducedLiver Failure, AcuteLogistic ModelsMaleMiddle AgedMultivariate AnalysisOdds RatioRegistriesRetrospective StudiesRisk FactorsTime FactorsTreatment OutcomeUnited StatesConceptsAcute liver failureNon-APAP patientsALF patientsTherapeutic hypothermiaAPAP patientsLiver failureUS Acute Liver Failure Study GroupAcute Liver Failure Study GroupImpact of THMulticenter retrospective cohort analysisTransplant-free survival rateEnd-stage liver diseaseAPAP-ALF patientsRetrospective cohort studyRetrospective cohort analysisAcetaminophen patientsSpontaneous survivalCerebral edemaCohort studyProspective trialHepatic encephalopathyLiver diseaseTracheal infectionGrade IIIWorse outcomes
2014
Right Homonymous Hemianopsia and Seizures in a Liver Transplant Recipient
Thiessen C, Patrón-Lozano R, Schilsky M, Rodríguez-Dávalos M. Right Homonymous Hemianopsia and Seizures in a Liver Transplant Recipient. American Journal Of Transplantation 2014, 14: 2427-2429. PMID: 25231067, DOI: 10.1111/ajt.12870.Peer-Reviewed Original Research
2013
Human Monoclonal Antibody MBL-HCV1 Delays HCV Viral Rebound Following Liver Transplantation: A Randomized Controlled Study
Chung R, Gordon F, Curry M, Schiano T, Emre S, Corey K, Markmann J, Hertl M, Pomposelli J, Pomfret E, Florman S, Schilsky M, Broering T, Finberg R, Szabo G, Zamore P, Khettry U, Babcock G, Ambrosino D, Leav B, Leney M, Smith H, Molrine D. Human Monoclonal Antibody MBL-HCV1 Delays HCV Viral Rebound Following Liver Transplantation: A Randomized Controlled Study. American Journal Of Transplantation 2013, 13: 1047-1054. PMID: 23356386, PMCID: PMC3618536, DOI: 10.1111/ajt.12083.Peer-Reviewed Original ResearchConceptsLiver transplantationHepatitis C virusViral reboundViral loadPlacebo-controlled pilot studyAntibody-treated groupDays of transplantResistance-associated variantsHCV genotype 1aHuman monoclonal antibodyAllograft infectionRibavirin therapyPlacebo groupActing antiviralsPlacebo treatmentMedian timeViral clearanceSingle infusionC virusHCV E2Median changeGenotype 1aLimited efficacyDay 1Day 3
2011
Wilson Disease: Pathogenesis and Clinical Considerations in Diagnosis and Treatment
Rosencrantz R, Schilsky M. Wilson Disease: Pathogenesis and Clinical Considerations in Diagnosis and Treatment. Seminars In Liver Disease 2011, 31: 245-259. PMID: 21901655, DOI: 10.1055/s-0031-1286056.Peer-Reviewed Original ResearchConceptsPathologic findingsWilson's diseaseHepatocyte cell transplantationLife-long treatmentInitiation of treatmentKayser-Fleischer ringsFirst-degree relativesPresence of signsBiliary copper excretionLiver transplantationMedical therapyLow ceruloplasminCell transplantationElevated urineLenticular degenerationHistologic changesDisease progressionClinical signsFatal disorderNeurologic diseaseAnimal modelsClinical considerationsCopper excretionDiseaseEarly detectionGenetic Modifiers of Liver Injury in Hereditary Liver Disease
Ala A, Schilsky M. Genetic Modifiers of Liver Injury in Hereditary Liver Disease. Seminars In Liver Disease 2011, 31: 208-214. PMID: 21538285, DOI: 10.1055/s-0031-1276648.Peer-Reviewed Original ResearchMeSH KeywordsAdenosine TriphosphatasesAlpha 1-AntitrypsinAlpha 1-Antitrypsin DeficiencyAnimalsCation Transport ProteinsCopper-transporting ATPasesDisease ProgressionGenetic Predisposition to DiseaseHemochromatosisHemochromatosis ProteinHepatolenticular DegenerationHeredityHistocompatibility Antigens Class IHumansLiverMembrane ProteinsPhenotypeSeverity of Illness IndexConceptsLiver diseaseWilson's diseaseGenetic hemochromatosisHereditary liver diseasesHepatic injuryLiver injuryIron overloadATP7B genotypeA1-ATC282Y mutationClinical phenotypeDiseaseRegenerative capacityGenetic modifiersPatientsInjuryHemochromatosisHeterozygous genotypeModifier genesGenetic backgroundMutationsWide variationModifier effectSignificant variabilityLiver
2009
ICU Management of Acute Liver Failure
Schilsky ML, Honiden S, Arnott L, Emre S. ICU Management of Acute Liver Failure. Clinics In Chest Medicine 2009, 30: 71-87. PMID: 19186281, DOI: 10.1016/j.ccm.2008.10.001.Peer-Reviewed Original ResearchConceptsAcute liver failureLiver failureTeam approachGood ICU careOrganized team approachAcute liver injurySurvival of patientsBetter patient outcomesEarly disease recognitionLiver transplantationICU careLiver injuryICU managementPatient outcomesCritical carePatient managementSupportive measuresPatientsCareDisease recognitionICUTransplantationFailurePathophysiologyInjury
2008
Screening for Wilson disease in acute liver failure: A comparison of currently available diagnostic tests
Korman JD, Volenberg I, Balko J, Webster J, Schiodt FV, Squires RH, Fontana RJ, Lee WM, Schilsky ML, Groups P. Screening for Wilson disease in acute liver failure: A comparison of currently available diagnostic tests. Hepatology 2008, 48: 1167-1174. PMID: 18798336, PMCID: PMC4881751, DOI: 10.1002/hep.22446.Peer-Reviewed Original ResearchConceptsAcute liver failureDiagnosis of ALFSerum copper levelsFulminant Wilson's diseaseWilson's diseaseLiver failureDiagnostic sensitivityEmergency liver transplantationChronic liver diseaseAlkaline phosphataseAvailable diagnostic testsCopper levelsAvailable laboratory testsALF patientsTransplant listingLikelihood ratioLiver transplantationSerum aminotransferasesLiver diseaseALT ratioSerum ceruloplasminBilirubin ratioPatientsSerum CpRapid diagnosisDiagnosis and treatment of Wilson disease: An update
Roberts EA, Schilsky ML. Diagnosis and treatment of Wilson disease: An update. Hepatology 2008, 47: 2089-2111. PMID: 18506894, DOI: 10.1002/hep.22261.Peer-Reviewed Original Research
2005
Survival after liver transplantation in patients with hepatic iron overload: the national hemochromatosis transplant registry.
Kowdley K, Brandhagen D, Gish R, Bass N, Weinstein J, Schilsky M, Fontana R, McCashland T, Cotler S, Bacon B, Keeffe E, Gordon F, Polissar N. Survival after liver transplantation in patients with hepatic iron overload: the national hemochromatosis transplant registry. Gastroenterology 2005, 129: 494-503. PMID: 16083706, DOI: 10.1016/j.gastro.2005.05.004.Peer-Reviewed Original ResearchMeSH KeywordsAdultAgedAnalysis of VarianceCause of DeathCohort StudiesConfidence IntervalsFemaleGenetic MarkersGenotypeHemochromatosisHistocompatibility Antigens Class IHumansIron OverloadLiver Function TestsLiver TransplantationMaleMiddle AgedMutationProbabilityPrognosisProportional Hazards ModelsRegistriesSensitivity and SpecificitySeverity of Illness IndexSurvival AnalysisConceptsHepatic iron overloadHepatic iron indexHepatic iron concentrationLiver transplantationIron overloadPosttransplantation survivalC282Y/H63D mutationsEnd-stage liver diseaseHFE gene testingHFE mutation statusLiver transplantation centerNon-HH patientsOrgan Sharing statusYear of transplantationWild-type patientsPostliver transplantationTransplant RegistryHazard ratioTransplantation centersUncontrolled studiesLiver diseasePoor outcomeUnited NetworkIron indicesEarly diagnosis
2001
The irony of treating Wilson's disease
Schilsky M. The irony of treating Wilson's disease. The American Journal Of Gastroenterology 2001, 96: ajg2001764. PMID: 11721750, DOI: 10.1111/j.1572-0241.2001.05254.x.Peer-Reviewed Original ResearchORTHOTOPIC LIVER TRANSPLANTATION FOR WILSON’S DISEASE
Emre S, Atillasoy E, Ozdemir S, Schilsky M, Varma C, Thung S, Sternlieb I, Guy S, Sheiner P, Schwartz M, Miller C. ORTHOTOPIC LIVER TRANSPLANTATION FOR WILSON’S DISEASE. Transplantation 2001, 72: 1232-1236. PMID: 11602847, DOI: 10.1097/00007890-200110150-00008.Peer-Reviewed Original ResearchConceptsOrthotopic liver transplantationOne-year patientFulminant Wilson's diseaseLiver transplantationWilson's diseaseGraft survivalRenal failureDisease cureAcute renal failureLate postoperative complicationsChronic liver diseaseFulminant liver failureNormal liver functionLong-term survivalHepatic complicationsPost-OLTBiliary copper excretionPostoperative complicationsPatient agePatient demographicsSupportive careDisease recurrenceLiver failureLiver injuryMedical therapyTreatment of Wilson’s disease: What are the relative roles of penicillamine, trientine, and zinc supplementation?
Schilsky M. Treatment of Wilson’s disease: What are the relative roles of penicillamine, trientine, and zinc supplementation? Current Gastroenterology Reports 2001, 3: 54-59. PMID: 11177695, DOI: 10.1007/s11894-001-0041-4.Peer-Reviewed Original ResearchConceptsWilson's diseaseSymptomatic patientsTreatment of choiceInitial therapyMaintenance therapyPregnant patientsCombination therapyZinc supplementationBest therapyNeurologic diseaseChelation therapyNext treatmentMedical treatmentPatientsTherapyDiseaseTrientineFurther studiesTreatmentMore effective alternativesEffective alternativeNew optionsPenicillamineLiverSupplementation
1998
Copper resistant human hepatoblastoma mutant cell lines without metallothionein induction overexpress ATP7B
Schilsky M, Stockert R, Kesner A, Gorla G, Gagliardi G, Terada K, Miura N, Czaja M. Copper resistant human hepatoblastoma mutant cell lines without metallothionein induction overexpress ATP7B. Hepatology 1998, 28: 1347-1356. PMID: 9794921, DOI: 10.1002/hep.510280525.Peer-Reviewed Original ResearchMeSH KeywordsAdenosine TriphosphatasesBlotting, NorthernBlotting, WesternCadmiumCarrier ProteinsCation Transport ProteinsCeruloplasminCopperCopper-transporting ATPasesDrug ResistanceGene ExpressionGlutathioneHepatoblastomaHumansKineticsLiver NeoplasmsMetallothioneinMutagenesisProtein BiosynthesisRNA, MessengerTumor Cells, CulturedZincConceptsCell linesSubcellular distributionCopper uptakeCopper toxicityBasal expressionZinc toxicityMetallothionein messenger RNAMutant cell linesIndependent cell linesCellular resistanceATP7B proteinHuman hepatoblastoma cell lineMembrane fractionIntracellular sequestrationOrganellesMessenger RNAHepatoblastoma cell lineResistant cell linesProteinATP7BExpressionHuh7InductionGlutathione contentMT inductionATP7B (WND) protein
Terada K, Schilsky M, Miura N, Sugiyama T. ATP7B (WND) protein. The International Journal Of Biochemistry & Cell Biology 1998, 30: 1063-1067. PMID: 9785470, DOI: 10.1016/s1357-2725(98)00073-9.Peer-Reviewed Original ResearchConceptsATP7B proteinP-type ATPaseCopper transporterDisease-specific mutationsIntracellular traffickingKb transcriptSpecific mutationsProteinATP7BGenesGenetic disordersRecombinant adenovirusExcessive accumulationCopper metabolismRecent studiesWilson's diseaseExonsGene deliveryTraffickingKbTranscriptsTransportersMutationsATPase
1994
Identification of the Wilson's disease gene: Clues for disease pathogenesis and the potential for molecular diagnosis
Schilsky M. Identification of the Wilson's disease gene: Clues for disease pathogenesis and the potential for molecular diagnosis. Hepatology 1994, 20: 529-533. PMID: 8045514, DOI: 10.1002/hep.1840200235.Peer-Reviewed Original ResearchConceptsYeast artificial chromosomesAmino acid homologyMenkes disease geneDisease genesCDNA clonesSingle marker intervalATPase geneArtificial chromosomesMarker intervalP-type ATPase familyCopper transportP-type ATPase genesWilson disease geneBinding regionsLinkage disequilibriumHeavy metal transportersATP-binding domainCandidate cDNA clonesGenetic mapping dataWD geneAutosomal recessive disorderOpen reading framePartial cDNA cloneMetal binding regionsHuman liver cDNA libraryLiver transplantation for Wilson's disease: Indications and outcome
Schilsky M, Scheinberg I, Sternlieb I. Liver transplantation for Wilson's disease: Indications and outcome. Hepatology 1994, 19: 583-587. PMID: 8119682, DOI: 10.1002/hep.1840190307.Peer-Reviewed Original ResearchConceptsOrthotopic liver transplantationLiver transplantationNeurological Wilson's diseaseHepatic insufficiencyWilson's diseaseFulminant hepatitisSevere hepatic insufficiencyManagement of patientsIntractable neurological diseasesNonfatal complicationsGastrointestinal hemorrhageVascular complicationsMedian survivalMedical therapyRetrospective reviewPsychiatric manifestationsStudy groupPsychiatric symptomsPatientsTransplantationNeurological diseasesInsufficiencyDiseaseTransplantHepatitis
1991
Prognosis of Wilsonian chronic active hepatitis
Schilsky M, Scheinberg I, Sternlieb I. Prognosis of Wilsonian chronic active hepatitis. Gastroenterology 1991, 100: 762-767. PMID: 1993498, DOI: 10.1016/0016-5085(91)80023-3.Peer-Reviewed Original ResearchConceptsChronic active hepatitisActive hepatitisWilson's diseaseD-penicillamineAbnormal water retentionPresence of cirrhosisMonths of treatmentSuccessful pharmacological treatmentMajority of subjectsLiver transplantSalt restrictionLaboratory featuresSymptomatic improvementLiver diseaseTherapeutic regimenPharmacological treatmentAlanine aminotransferasePatientsAspartate aminotransferaseHepatitisNormal levelsDiseaseCirrhosisTrientinePrognosis