2023
“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 specialtiesPhysiciansDiagnosisSymptoms
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 associationPatientsTrientine 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 model
2021
Changes 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 disorders
2020
A 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
2016
Acute-on-chronic liver failure in cirrhosis
Arroyo V, Moreau R, Kamath PS, Jalan R, Ginès P, Nevens F, Fernández J, To U, García-Tsao G, Schnabl B. Acute-on-chronic liver failure in cirrhosis. Nature Reviews Disease Primers 2016, 2: 16041. PMID: 27277335, DOI: 10.1038/nrdp.2016.41.Peer-Reviewed Original ResearchConceptsChronic liver failureOrgan failureAcute decompensationLiver failureHigh short-term mortalityACLF grade 2ACLF grade 3Short-term mortalityAcute liver damageCommon organ failureLiver transplantationRespiratory failureRenal failureStandard therapySystemic inflammationViral hepatitisIntestinal translocationLiver damageACLFGrade 3Consortium guidelinesMortality ratePatientsGrade 2Bacterial products