2025
Chapter 30 Wilson disease⊛
To U, Schilsky M. Chapter 30 Wilson disease⊛. 2025, 841-859. DOI: 10.1016/b978-0-443-26711-6.00030-5.Peer-Reviewed Original ResearchWilson's diseaseAutosomal recessive disorderATP7B proteinNegative copper balanceDiverse phenotypesATP7B geneUnexplained liver diseaseLong-term survivalCopper transportBiochemical testsGenetic testingRecessive disorderMetabolic correctionLiver transplantationMedical historyHepatic symptomsLiver diseaseATP7BCopper excretionNeurological assessmentDietary restrictionIncreased excretionCopper balancePsychiatric symptomsExcretion
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
The Effect of Mental Health, Neurological Disease, and Liver Disease on Quality of Life in Patients With Wilson Disease
Camarata MA, Ala A, Coskun AK, Deng Y, Gonzalez-Peralta R, Maciejewski KR, Patel A, Rubman S, To U, Tomlin R, Schilsky ML, Zimbrean PC. The Effect of Mental Health, Neurological Disease, and Liver Disease on Quality of Life in Patients With Wilson Disease. Journal Of The Academy Of Consultation-Liaison Psychiatry 2021, 62: 528-537. PMID: 34044196, PMCID: PMC11165927, DOI: 10.1016/j.jaclp.2021.04.004.Peer-Reviewed Original ResearchConceptsRating Scale scoresP-QOL scoresP-QOLNeurological diseasesWilson's diseaseMental healthOverall QoLUnified Wilson's Disease Rating Scale scoreScale scoreEnd-stage liver disease (MELD) scoreDisease severityStage liver disease scoreDegree of liverNeurological disease severityLiver Disease scoreLiver disease severityMajor depressive disorderQuality of lifeMental health issuesChild-PughCirrhosis severityLiver diseaseNeurological assessmentPatients' qualityChronic disorders
2020
P13 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 depressionA window into portal hemodynamics in adult fontan patients?
Simmons MA, Revzin M, To U, Liapakis A, Fahey J, Elder RW. A window into portal hemodynamics in adult fontan patients? International Journal Of Cardiology 2020, 323: 61-64. PMID: 32979426, DOI: 10.1016/j.ijcard.2020.09.047.Peer-Reviewed Original ResearchConceptsAdult Fontan patientsFontan patientsSpleen stiffnessCongenital heart diseaseLiver stiffnessShear wave elastographyControl patientsPortal hemodynamicsLiver diseaseHeart diseaseFontan-associated liver diseaseLimited subgroup analysisPortal venous hemodynamicsAssociated liver diseasePassive hepatic congestionUltrasound shear wave elastographyFontan circulationStudy cohortHealthy patientsHepatic congestionVenous hemodynamicsSubgroup analysisLiver fibrosisHealthy controlsPatientsFRI303 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