2023
Early brain microstructural development among preterm infants requiring caesarean section versus those delivered vaginally
Bobba P, Weber C, Malhotra A, Bahtiyar M, Copel J, Taylor S, Ment L, Payabvash S. Early brain microstructural development among preterm infants requiring caesarean section versus those delivered vaginally. Scientific Reports 2023, 13: 21514. PMID: 38057452, PMCID: PMC10700578, DOI: 10.1038/s41598-023-48963-z.Peer-Reviewed Original Research
2022
Brain injury patterns in hypoxic ischemic encephalopathy of term neonates
Bobba PS, Malhotra A, Sheth KN, Taylor SN, Ment LR, Payabvash S. Brain injury patterns in hypoxic ischemic encephalopathy of term neonates. Journal Of Neuroimaging 2022, 33: 79-84. PMID: 36164277, DOI: 10.1111/jon.13052.Peer-Reviewed Original ResearchConceptsSevere hypoxic-ischemic encephalopathyHypoxic-ischemic encephalopathyHypoxic-ischemic lesionsSeverity of HIEModerate hypoxic-ischemic encephalopathyTerm neonatesIschemic lesionsDiffusion-weighted imagingBasal gangliaDiagnosis of HIESeverity categoriesBrain injury patternsDeep white matterMRI diffusion-weighted imagingT2-weighted imagesPresence of lesionsVoxel-wise analysisRespiration (APGAR) scoreInfarct volumeStandard brain spaceIschemic encephalopathyInjury patternsBrain injuryLentiform nucleusLesion 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