2014
Individual exome analysis in diagnosis and management of paediatric liver failure of indeterminate aetiology
Vilarinho S, Choi M, Jain D, Malhotra A, Kulkarni S, Pashankar D, Phatak U, Patel M, Bale A, Mane S, Lifton RP, Mistry PK. Individual exome analysis in diagnosis and management of paediatric liver failure of indeterminate aetiology. Journal Of Hepatology 2014, 61: 1056-1063. PMID: 25016221, PMCID: PMC4203706, DOI: 10.1016/j.jhep.2014.06.038.Peer-Reviewed Original ResearchMeSH KeywordsAmino Acid SequenceBase SequenceCarboxylic Ester HydrolasesChildCholestasisDNA Mutational AnalysisEnd Stage Liver DiseaseExomeFatal OutcomeFemaleGenes, RecessiveHepatolenticular DegenerationHeterozygoteHomozygoteHumansInfant, NewbornLiver FailureLiver Failure, AcuteMaleMembrane ProteinsMitochondrial ProteinsMolecular Sequence DataPedigreeReceptor, Notch2RNA Splice SitesSequence Homology, Amino AcidConceptsFatal acute liver failureWhole-exome sequencingAdvanced liver diseaseAcute liver failureIndeterminate etiologyYear old femaleLiver failureLiver diseaseMetabolic liver diseasePatient 3Treatment optionsPhenotypic spectrumPediatric liver failureDecompensated liver cirrhosisManagement of childrenOptimal treatment optionsAge 3 monthsNovel inborn errorLiver transplantAtypical presentationLiver cirrhosisHepatocerebral mitochondrial DNA depletion syndromePatient 1Patient 2Unknown etiology
2011
Combined Liver Kidney Transplantation: Critical Analysis of a Single-Center Experience
Cimsit B, Schilsky M, Moini M, Cartiera K, Arvelakis A, Kulkarni S, Formica R, Caldwell C, Taddei T, Asch W, Emre S. Combined Liver Kidney Transplantation: Critical Analysis of a Single-Center Experience. Transplantation Proceedings 2011, 43: 901-904. PMID: 21486624, DOI: 10.1016/j.transproceed.2011.02.033.Peer-Reviewed Original ResearchMeSH KeywordsAdolescentAdultAgedConnecticutEnd Stage Liver DiseaseHumansKidney TransplantationLiver TransplantationMiddle AgedRenal InsufficiencyTreatment OutcomeYoung AdultConceptsLiver-kidney transplantationHigh MELD scoreKidney transplantationMELD scoreKidney diseaseEnd-stage liver disease (MELD) scoreCombined liver-kidney transplantationGraft/patient survivalLow glomerular filtration rateOrgan allocation algorithmsPrimary biliary sclerosisRecurrence of HCVSevere HCV recurrenceTransplantation of patientsLiver Disease scoreSerum creatinine levelsRenal allograft rejectionSingle-center experienceGlomerular filtration rateHepatitis C virusPolycystic kidney diseaseBiliary sclerosisHCV recurrenceIschemic hepatitisOLT patients