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
2012
Risk Factors Associated With Biliary Pancreatitis in Children
H. M, Bai HX, Park AJ, Latif SU, Mistry PK, Pashankar D, Northrup VS, Bhandari V, Husain SZ. Risk Factors Associated With Biliary Pancreatitis in Children. Journal Of Pediatric Gastroenterology And Nutrition 2012, 54: 651-656. PMID: 22002481, PMCID: PMC3626418, DOI: 10.1097/mpg.0b013e31823a897d.Peer-Reviewed Original ResearchConceptsBiliary pancreatitisRisk factorsIndependent predictorsAspartate aminotransferaseTertiary care hospitalManagement of childrenMultiple logistic regressionMedian serum amylaseCare hospitalProspective studyAcute pancreatitisSerum amylaseHispanic ethnicityPancreatitisTimes higher probabilityGallstonesGallstone casesLogistic regressionOlder childrenHispanic childrenObesityChildrenOptimal evaluationAminotransferaseBlack children