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
2009
Mycophenolate Mofetil-induced Colitis in Children
Phatak UP, Seo-Mayer P, Jain D, Selbst M, Husain S, Pashankar DS. Mycophenolate Mofetil-induced Colitis in Children. Journal Of Clinical Gastroenterology 2009, 43: 967-969. PMID: 19609219, DOI: 10.1097/mcg.0b013e3181a8754d.Peer-Reviewed Original ResearchConceptsMycophenolate mofetilSevere colitisMild gastrointestinal side effectsPediatric renal transplant patientsWithdrawal of MMFMaintenance of immunosuppressionRenal transplant patientsInflammatory bowel diseaseGastrointestinal side effectsCause of diarrheaMMF therapyHost diseaseTransplant patientsBowel diseaseColonic biopsiesHistologic featuresPatient 1Patient 2Histologic findingsComplete resolutionSide effectsColitisPatientsCausal associationMofetil