2017
Usefulness of enhancement-perfusion mismatch in differentiation of CNS lymphomas from other enhancing malignant tumors of the brain
Goyal P, Kumar Y, Gupta N, Malhotra A, Gupta S, Gupta S, Mangla M, Mangla R. Usefulness of enhancement-perfusion mismatch in differentiation of CNS lymphomas from other enhancing malignant tumors of the brain. Quantitative Imaging In Medicine And Surgery 2017, 7: 511-519. PMID: 29184763, PMCID: PMC5682400, DOI: 10.21037/qims.2017.09.03.Peer-Reviewed Original ResearchCNS lymphomaGlioblastoma multiformeMalignant lesionsMean rCBVSecondary central nervous system lymphomaCentral nervous system lymphomaDifferentiation of CNSMagnetic resonance perfusion imagingNervous system lymphomaRelative cerebral blood volumePerfusion imagesDSC perfusion MRCerebral blood volumeRelative CBV valuesMann-Whitney testEnhancing partSystem lymphomaLymphoma patientsTreatment optionsAnaplastic gliomasTumor differentiationMalignant tumorsPerfusion MRGlioma patientsBlood volume
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