2025
Contributors for Volume 2
Agarwal A, Al lami Z, Ala A, Anand A, Anirvan P, Arab J, Bagwan I, Bahure U, Baloji A, Bataller R, Batsis I, Behera M, Berlinrut I, Bhamidimarri K, Bhongade M, Bhujade H, Bucuvalas J, Chayanupatkul M, Clemente-Sanchez A, Cussen C, De A, Dieterich D, DiNorcia J, Dunn W, Duseja A, Sabagh A, Talkhan M, Em M, Gupta S, Huisman T, Ilyas F, Jain S, Jalal P, Kalra N, Kamani L, Khandelwal R, Khuroo M, Khuroo N, Kim E, Yin J, Maiwall R, Mallakmir S, Mehta H, Mohamed I, Molmenti A, Molmenti E, Nagral A, Nair V, Odin J, Panigrahi M, Polanco N, Prachanronarong K, Praharaj D, Raja K, Satapathy S, Schiano T, Schilsky M, Singal A, Singh S, Smith R, To U, Vanatta J, Wallach F, ZainAloor F. Contributors for Volume 2. 2025, xxv-xxix. DOI: 10.1016/b978-0-443-26711-6.09992-3.Peer-Reviewed Original ResearchChapter 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
2024
Inpatient management of bacterial infections in patients with cirrhosis: A clinical review
Chen G, To U. Inpatient management of bacterial infections in patients with cirrhosis: A clinical review. Clinical Liver Disease 2024, 23: e0214. PMID: 38952696, PMCID: PMC11216674, DOI: 10.1097/cld.0000000000000214.Peer-Reviewed Original ResearchWilson 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 patientsDepression
2023
S1506 Hepatic Decompensation & High-Intensity Statin Therapy Are Associated with Statin-Induced Rhabdomyolysis in Patients With Cirrhosis
Chen G, Alvarado M, Cohen E, Ventura K, To U. S1506 Hepatic Decompensation & High-Intensity Statin Therapy Are Associated with Statin-Induced Rhabdomyolysis in Patients With Cirrhosis. The American Journal Of Gastroenterology 2023, 118: s1141-s1142. DOI: 10.14309/01.ajg.0000955664.89611.a1.Peer-Reviewed Original ResearchP20 Patterns of ALT, AST and 24-hour urine copper in adult patients with treated Wilson disease: results from an international multi-site registry at enrolment and over the course of 3 years
Camarata M, To U, Coskun A, Maciejewski K, Embel V, Ayhan E, Gonzalez-Peralta R, Ala A, Schilsky M. P20 Patterns of ALT, AST and 24-hour urine copper in adult patients with treated Wilson disease: results from an international multi-site registry at enrolment and over the course of 3 years. 2023, a25.1-a25. DOI: 10.1136/gutjnl-2023-basl.36.Peer-Reviewed Original Research“Because it is a rare disease…it needs to be brought to attention that there are things out of the norm”: a qualitative study of patient and physician experiences of Wilson disease diagnosis and management in the US
Bailey K, Sahota N, To U, Hedera P. “Because it is a rare disease…it needs to be brought to attention that there are things out of the norm”: a qualitative study of patient and physician experiences of Wilson disease diagnosis and management in the US. Orphanet Journal Of Rare Diseases 2023, 18: 158. PMID: 37349760, PMCID: PMC10288732, DOI: 10.1186/s13023-023-02778-3.Peer-Reviewed Original ResearchConceptsPhysician experienceCoordination of careLow copper dietWilson's disease diagnosisLiver transplantationLifelong treatmentNeurological symptomsHepatic symptomsDefinitive diagnosisDietary regimenInsurance barriersWide patientPsychiatric symptomsPatientsRare diseaseCommunity outreach programsDiagnostic journeyQualitative studyMultidisciplinary teamWD patientsMedicationsMultiple specialtiesPhysiciansDiagnosisSymptomsMo1571 OVERCOMING METABOLIC BARRIERS TO LIVING LIVER DONATION
Grover D, Cohen E, Batra R, Batisti J, Do A, Haakinson D, Hughes L, Mehal W, Mulligan D, To U, Ventura K, Viana A, Liapakis A. Mo1571 OVERCOMING METABOLIC BARRIERS TO LIVING LIVER DONATION. Gastroenterology 2023, 164: s-1375-s-1376. DOI: 10.1016/s0016-5085(23)04205-1.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 associationPatientsPlasma Proteomic Profiling Illustrates Endothelial and Complement Signature in Patients with Alcohol-Associated Cirrhosis
Allen C, Butt A, Zhao X, Li F, Bahel P, Chang C, Chun H, Gu S, Hwa J, Jakab S, Chen B, Garcia-Tsao G, Rinder H, To U, McConnell M, Lee A, Pine A. Plasma Proteomic Profiling Illustrates Endothelial and Complement Signature in Patients with Alcohol-Associated Cirrhosis. Blood 2022, 140: 8382-8383. DOI: 10.1182/blood-2022-162633.Peer-Reviewed Original ResearchTrientine tetrahydrochloride versus penicillamine for maintenance therapy in Wilson disease (CHELATE): a randomised, open-label, non-inferiority, phase 3 trial
Schilsky ML, Czlonkowska A, Zuin M, Cassiman D, Twardowschy C, Poujois A, de Assis A Gondim F, Denk G, Cury RG, Ott P, Moore J, Ala A, D'Inca R, Couchonnal-Bedoya E, D'Hollander K, Dubois N, Kamlin COF, Weiss KH, investigators C, To U, Patel A, Hettiarachchi D, Giorgini A, Monico S, Litwin T, Piechal A, Skowronska M, Lachaux A, Belmalih A, Boogers A, Mohr I, Langel A, Freitas C, Barbosa E, Sandahl T, Gerdes L, Obadia A, Rahli D, Cosgrove J. Trientine tetrahydrochloride versus penicillamine for maintenance therapy in Wilson disease (CHELATE): a randomised, open-label, non-inferiority, phase 3 trial. The Lancet Gastroenterology & Hepatology 2022, 7: 1092-1102. PMID: 36183738, DOI: 10.1016/s2468-1253(22)00270-9.Peer-Reviewed Original ResearchConceptsUrinary copper excretionNon-inferiority marginWilson's diseaseCopper excretionMean differenceStable Wilson's diseaseHealth care centersOral penicillaminePenicillamine groupPenicillamine intoleranceMaintenance therapyPrimary endpointStable patientsDaily doseStudy treatmentTreat approachClinical assessmentAlanine aminotransferaseBaseline valuesSite investigatorsPatientsInherited disorderExtension periodDiseaseGeneral linear modelSa1384: PATIENT AND PHYSICIAN EXPERIENCES OF WILSON DISEASE (WD) DIAGNOSIS AND MANAGEMENT IN THE USA: A QUALITATIVE STUDY
Bailey K, Sahota N, To U, Hedera P. Sa1384: PATIENT AND PHYSICIAN EXPERIENCES OF WILSON DISEASE (WD) DIAGNOSIS AND MANAGEMENT IN THE USA: A QUALITATIVE STUDY. Gastroenterology 2022, 162: s-1149-s-1150. DOI: 10.1016/s0016-5085(22)63443-7.Peer-Reviewed Original Research
2021
S2782 Unusual Cause of Acute Liver Injury: Amatoxins-Containing Mushroom Poisoning
Lee G, Tran A, To U. S2782 Unusual Cause of Acute Liver Injury: Amatoxins-Containing Mushroom Poisoning. The American Journal Of Gastroenterology 2021, 116: s1159-s1159. DOI: 10.14309/01.ajg.0000784660.77223.ed.Peer-Reviewed Original ResearchChanges in Ascitic Fluid Polymorphonuclear Cell Count After Antibiotics Are Associated With Mortality in Spontaneous Bacterial Peritonitis
Saffo S, To UK, Santoiemma PP, Laurito M, Haque L, Rabiee A, Verna EC, Angarone MP, Garcia-Tsao G. Changes in Ascitic Fluid Polymorphonuclear Cell Count After Antibiotics Are Associated With Mortality in Spontaneous Bacterial Peritonitis. Clinical Gastroenterology And Hepatology 2021, 20: e1201-e1204. PMID: 34273564, PMCID: PMC11090177, DOI: 10.1016/j.cgh.2021.07.019.Peer-Reviewed Original ResearchThe 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 disordersRecent advances in Wilson disease
Moini M, To U, Schilsky M. Recent advances in Wilson disease. Translational Gastroenterology And Hepatology 2021, 6: 21-21. DOI: 10.21037/tgh-2019-rld-10.Peer-Reviewed Original ResearchRecent advances in Wilson disease
Moini M, To U, Schilsky ML. Recent advances in Wilson disease. Translational Gastroenterology And Hepatology 2021, 6: 21-21. PMID: 33824925, PMCID: PMC7838529, DOI: 10.21037/tgh-2020-02.Peer-Reviewed Original ResearchWilson's diseaseMedical treatmentBis-choline tetrathiomolybdateLife-long therapyCurrent medical treatmentDiagnosis of WDFuture potential therapiesIndividualization of treatmentPre-clinical studiesRare genetic disorderNeurologic involvementMedical therapyOphthalmologic signsAvailable therapiesIndividualizing therapyNew therapiesPotential therapyBlood samplesAnimal studiesUnmet needTherapyNewborn screeningPatientsTreatment monitoringEarly detection
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 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 controlsPatients