2024
Wilson Disease and the COVID-19 pandemic: exploring patients’ mental health and vaccination attitudes in a longitudinal study
Coskun A, Aydin A, Tosun S, To U, Rubman S, Schilsky M, Zimbrean P. Wilson Disease and the COVID-19 pandemic: exploring patients’ mental health and vaccination attitudes in a longitudinal study. Frontiers In Psychology 2024, 15: 1326802. PMID: 38803830, PMCID: PMC11129684, DOI: 10.3389/fpsyg.2024.1326802.Peer-Reviewed Original ResearchMental healthMental health of individualsMental health scalesCognitive functionVaccination ratesHealth of individualsQuality of lifeCOVID-19 pandemicStudy investigated stressLevels of stressHealth scaleChronic conditionsCOVID-19 perceptionsVaccine attitudesIncreased depressionIncome lossCOVID-19Exacerbate anxietyPositive attitudesLongitudinal studyEssential workersActive initiatorsAnxietyWD patientsDepressionNon-ceruloplasmin copper and urinary copper in clinically stable Wilson disease: Alignment with recommended targets
Ott P, Sandahl T, Ala A, Cassiman D, Couchonnal-Bedoya E, Cury R, Czlonkowska A, Denk G, D’Inca R, de Assis Aquino Gondim F, Moore J, Poujois A, Twardowschy C, Weiss K, Zuin M, Kamlin C, Schilsky M. Non-ceruloplasmin copper and urinary copper in clinically stable Wilson disease: Alignment with recommended targets. JHEP Reports 2024, 6: 101115. PMID: 39139457, PMCID: PMC11321293, DOI: 10.1016/j.jhepr.2024.101115.Peer-Reviewed Original ResearchNon-ceruloplasmin-bound copperUrinary copper excretionD-penicillamine therapyRecommended target rangeWD patientsWilson's diseaseSigns of copper deficiencyD-penicillamineBiochemical signsCopper excretionTarget rangeClinically stable diseaseTreatment of WDTreatment of patientsAnalysis of liver enzymesCopper deficiencyStable diseaseMaintenance therapyScreening visitUrinary copperTreated WDHealthy controlsNormal rangeProtein speciationRecommended targetsTaste 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
Effects of tetrathiomolybdate on copper metabolism in healthy volunteers and in patients with Wilson disease
Kirk F, Munk D, Swenson E, Quicquaro A, Vendelbo M, Larsen A, Schilsky M, Ott P, Sandahl T. Effects of tetrathiomolybdate on copper metabolism in healthy volunteers and in patients with Wilson disease. Journal Of Hepatology 2023, 80: 586-595. PMID: 38081365, DOI: 10.1016/j.jhep.2023.11.023.Peer-Reviewed Original ResearchEffect of tetrathiomolybdateWilson's diseaseBiliary copper excretionBiliary excretionHealthy volunteersCopper excretionWD patientsBis-choline tetrathiomolybdateNeurologic Wilson diseaseClinical trial numberPresent human studyTrial numberPET/CTCopper metabolismIntestinal copper uptakeMechanism of actionPET/MRINeurological worseningConventional therapyVenous bloodClinical trialsLower riskAnimal studiesHuman studiesCopper chelator
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 differencesScores
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
Partnering 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 Research