2024
Wilson disease: Novel Diagnostic and Therapeutic Approaches
Mariño Z, Schilsky M. Wilson disease: Novel Diagnostic and Therapeutic Approaches. Seminars In Liver Disease 2024 PMID: 39496313, DOI: 10.1055/a-2460-8999.Peer-Reviewed Original ResearchWilson's diseaseTrials of gene therapyLiver biopsy specimensDried blood spotsCase of WDBiliary copper excretionBiopsy specimensGene therapyDiagnostic advancesMonitoring therapyWD diagnosisNewborn screeningLiver diseaseCopper excretionTherapeutic approachesBlood spotsTherapyTherapeutic objectivesDiseaseDiagnosisLiverCopper assayPatientsExcretionTaste and smell function in Wilson's disease
Salmon M, Cohen W, Hu F, Aydin A, Coskun A, Schilsky M, Doty R. Taste and smell function in Wilson's disease. Journal Of The Neurological Sciences 2024, 459: 122949. PMID: 38493734, DOI: 10.1016/j.jns.2024.122949.Peer-Reviewed Original ResearchWilson's diseaseSmell functionUniversity of Pennsylvania Smell Identification TestPennsylvania Smell Identification TestSmell test scoresSmell Identification TestAbnormal copper metabolismOlfactory dysfunctionWD patientsOlfactory functionNeurological symptomsControl subjectsPrimary medicationTaste functionPathophysiological mechanismsHealthy controlsLinear regression analysisMultiple linear regression analysisIdentification TestCopper metabolismPatientsNo effectTaste testRegression analysisDisease
2023
S1564 Lessons in Monitoring Chelation Therapy in “Stable” Wilson Disease Patients Screened for a Randomized Trial
Medici V, Peralta R, Kamlin C, Heifets M, Schilsky M. S1564 Lessons in Monitoring Chelation Therapy in “Stable” Wilson Disease Patients Screened for a Randomized Trial. The American Journal Of Gastroenterology 2023, 118: s1180-s1181. DOI: 10.14309/01.ajg.0000955896.28554.ec.Peer-Reviewed Original Research
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 associationPatientsFRI297 Defining the boundaries for “stability” in Wilson disease patients on maintenance chelation therapy: lessons from the CHELATE trial
Kamlin C, Schilsky M, Ott P, Weiss K, Zuin M, Poujois A, Ala A, D’Hollander K. FRI297 Defining the boundaries for “stability” in Wilson disease patients on maintenance chelation therapy: lessons from the CHELATE trial. Journal Of Hepatology 2022, 77: s539. DOI: 10.1016/s0168-8278(22)01402-7.Peer-Reviewed Original ResearchTrientine tetrahydrochloride versus d-Penicillamine for the management of patients with Wilson Disease: results from the CHELATE trial a year after randomisation
Zuin M, Czlonkowska A, Cassiman D, Poujois A, Ott P, Dubois N, Weiss K, Monico S, Battezzati P, Carnevali G, Schilsky M, Investigators C. Trientine tetrahydrochloride versus d-Penicillamine for the management of patients with Wilson Disease: results from the CHELATE trial a year after randomisation. Digestive And Liver Disease 2022, 54: s2. DOI: 10.1016/j.dld.2022.01.007.Peer-Reviewed Original Research
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
2020
P12 Effect of liver disease, neurological disease and mental health issues on quality of life in patients with wilson disease
Camarata M, Ala A, Maciejewski K, To U, Zimbrean P, Rubman S, Coskun A, Patel A, Wadhwa A, Apdik T, Tomlin R, Deng Y, Gonzalez-Peralta R, Schilsky M. P12 Effect of liver disease, neurological disease and mental health issues on quality of life in patients with wilson disease. Gut 2020, 69: a13-a13. DOI: 10.1136/gutjnl-2020-basl.23.Peer-Reviewed Original ResearchMental health issuesWilson's diseaseHealth issuesSeverity of liverMental health QOLPhysical health QoLReview of imagingP-QOL scoresQuality of lifeFIB4 scoreAdult patientsRegistry studyNeurological assessmentPhysical health issuesChronic diseasesOutcome measuresPatientsNeurological diseasesWD patientsQoLAssess qualityDiseaseCirrhosisSignificant differencesScoresP13 Major depressive disorder in patients with wilson’s disease: relationship with liver disease, neurological disease and quality of life
Camarata M, Ala A, Maciejewski K, To U, Zimbrean P, Rubman S, Patel A, Wadhwa A, Coskun A, Apdik T, Tomlin R, Deng Y, Schilsky M. P13 Major depressive disorder in patients with wilson’s disease: relationship with liver disease, neurological disease and quality of life. Gut 2020, 69: a13-a13. DOI: 10.1136/gutjnl-2020-basl.24.Peer-Reviewed Original ResearchMajor depressive disorderQuality of lifeMental health QOLWilson's diseaseNeurological diseasesLiver diseaseDepressive disorderFirst presentationExact testDepression symptomologySeverity of liverLifetime major depressive disorderLiver disease severityFisher's exact testPhysical health QOLSignificant differencesWilcoxon rank sum testMental health problemsRank sum testFIB4 scoreClinical featuresNeurological assessmentPHQ-9PatientsCurrent depressionFRI303 Major depressive disorder in patients with Wilson’s disease: relationship with liver disease, neurological disease and quality of life
Camarata M, Ala A, To U, Zimbrean P, Rubman S, Patel A, Wadhwa A, Maciejewski K, Song X, Deng Y, Tomlin R, Apdik T, Coskun A, Schilsky M. FRI303 Major depressive disorder in patients with Wilson’s disease: relationship with liver disease, neurological disease and quality of life. Journal Of Hepatology 2020, 73: s550-s551. DOI: 10.1016/s0168-8278(20)31573-7.Peer-Reviewed Original Research
2019
Wilson's Disease
Kelly C, Ala A, Schilsky M. Wilson's Disease. 2019, 554-573. DOI: 10.1002/9781119211419.ch37.Peer-Reviewed Original ResearchUrinary copper excretionWilson's diseaseCopper excretionFull neurological evaluationUrine copper excretionDiagnosis of WDMultiple medical specialtiesSingle diagnostic testMagnetic resonance imagingRange of presentationsAsymptomatic patientsNeurological evaluationUncommon conditionAsymptomatic siblingsChelation treatmentMolecular testingWD patientsResonance imagingDiagnostic testsPatientsDiseaseExcretionMedical specialtiesDiagnosisSymptom development
2018
Wilson Disease: Special Circumstances
Camarata M, Schilsky M. Wilson Disease: Special Circumstances. Clinical Gastroenterology 2018, 175-181. DOI: 10.1007/978-3-319-91527-2_10.Peer-Reviewed Original ResearchLiver Transplantation for Wilson Disease
Miloh T, Schilsky M. Liver Transplantation for Wilson Disease. Clinical Gastroenterology 2018, 183-202. DOI: 10.1007/978-3-319-91527-2_11.Peer-Reviewed Original ResearchAcute liver failureLiver transplantationLiver failureWilson's diseaseChronic end-stage liver diseaseEnd-stage liver disease (MELD) scoreNon-resectable liver cancerEnd-stage liver diseaseHeterotopic liver transplantationLiver Disease scoreRisk of morbidityStatus 1APortal hypertensionLiver donationLiver diseaseLiver functionCell transplantationLifelong immunosuppressionTransplant surgeryChronic diseasesDonor organsLiver cancerWait listDisease scorePatientsTreatment Options for Wilson Disease
Kelly C, Pericleous M, Schilsky M. Treatment Options for Wilson Disease. Clinical Gastroenterology 2018, 45-61. DOI: 10.1007/978-3-319-91527-2_3.Peer-Reviewed Original ResearchWilson's diseaseMedical therapyTreatment of WDAsymptomatic patientsLiver transplantationSymptomatic patientsZinc therapyTreatment optionsPhysical therapyPhysician preferenceCopper intakeTherapyDietary changesPatientsMaintenance phaseTreatmentDiseaseCopper chelatorTransplantationDiagnosisIntakeSymptomatologyTreating Other Symptoms of Wilson Disease: The Liver
Camarata M, Schilsky M. Treating Other Symptoms of Wilson Disease: The Liver. Clinical Gastroenterology 2018, 87-106. DOI: 10.1007/978-3-319-91527-2_5.Peer-Reviewed Original ResearchWilson's diseaseLiver diseaseLiver cancerEnd-stage liver diseaseAcute liver failureMinority of patientsTime of diagnosisRoutine laboratory testingWilson's disease patientsPortal hypertensionInflamed liverLiver failurePrompt initiationAppropriate therapyChronic inflammationDisease patientsFamily screeningDisease progressionTimely initiationSevere symptomsPathological accumulationCirrhosisPatientsDiseaseLiverPartnering for Care of Wilson Disease
Graper M, Schilsky M. Partnering for Care of Wilson Disease. Clinical Gastroenterology 2018, 203-212. DOI: 10.1007/978-3-319-91527-2_12.Peer-Reviewed Original ResearchA comparison of resting-state functional magnetic resonance imaging between Neurological and Liver-only affected Wilson’s Disease patients (P4.014)
Nalamada K, Tinaz S, Arora J, Vives-Rodriguez A, Constable T, Schilsky M, Robakis D. A comparison of resting-state functional magnetic resonance imaging between Neurological and Liver-only affected Wilson’s Disease patients (P4.014). Neurology 2018, 90 DOI: 10.1212/wnl.90.15_supplement.p4.014.Peer-Reviewed Original Research
2017
Wilson Disease
Schilsky M, Ala A. Wilson Disease. 2017, 799-819. DOI: 10.1002/9781119251316.ch29.Peer-Reviewed Original ResearchWilson's diseaseExcellent patient survivalAcute liver failureCentral nervous systemAsymptomatic patientsBiliary copper excretionLiver transplantationPharmacologic treatmentSymptomatic patientsHepatic insufficiencyLiver failureMedical therapyLiver diseasePatient survivalHepatic diseasePsychiatric symptomsNervous systemBiochemical findingsCopper excretionDiseaseInherited disorderDisease-specific mutationsPatientsMutation analysisTreatmentGS-016 WTX101 in patients newly diagnosed with Wilson disease: final results of a global, prospective phase 2 trial
Weiss K, Askari F, Ferenci P, Ala A, Czlonkowska A, Nicholl D, Bronstein J, Bega D, Schilsky M. GS-016 WTX101 in patients newly diagnosed with Wilson disease: final results of a global, prospective phase 2 trial. Journal Of Hepatology 2017, 66: s88. DOI: 10.1016/s0168-8278(17)30440-3.Peer-Reviewed Original Research
2016
PS020 An Ongoing Phase 2, Multi-Centre, Open-Label, Study of WTX101 in Newly Diagnosed Wilson Disease Patients – Early Observations
Weiss K, Ala A, Askari F, Bega D, Bronstein J, Czlonkowska A, Ferenci P, Nicholl D, Schilsky M. PS020 An Ongoing Phase 2, Multi-Centre, Open-Label, Study of WTX101 in Newly Diagnosed Wilson Disease Patients – Early Observations. Journal Of Hepatology 2016, 64: s145-s146. DOI: 10.1016/s0168-8278(16)00033-7.Peer-Reviewed Original Research