2019
Cryptogenic cirrhosis: Old and new perspectives in the era of molecular and genomic medicine
Nalbantoglu I, Jain D. Cryptogenic cirrhosis: Old and new perspectives in the era of molecular and genomic medicine. Seminars In Diagnostic Pathology 2019, 36: 389-394. PMID: 31395291, DOI: 10.1053/j.semdp.2019.07.003.Peer-Reviewed Reviews, Practice Guidelines, Standards, and Consensus StatementsConceptsCryptogenic cirrhosisCC casesLiver diseaseUnknown etiologyMain histologic findingsPossible genetic counselingChronic liver diseaseWhole-exome sequencingCirrhosis casesPediatric patientsTransplant eligibilityHistologic findingsHistologic patternPotential etiologiesHistologic examinationHistologic characterizationGenetic testingEtiologyPatientsExome sequencingDiagnostic abilityGenetic counselingGenetic alterationsDiagnosisNew disorderClinical utility of genomic analysis in adults with idiopathic liver disease
Hakim A, Zhang X, DeLisle A, Oral EA, Dykas D, Drzewiecki K, Assis DN, Silveira M, Batisti J, Jain D, Bale A, Mistry PK, Vilarinho S. Clinical utility of genomic analysis in adults with idiopathic liver disease. Journal Of Hepatology 2019, 70: 1214-1221. PMID: 31000363, PMCID: PMC6526061, DOI: 10.1016/j.jhep.2019.01.036.Peer-Reviewed Original ResearchConceptsIdiopathic liver diseaseUnexplained liver diseaseManagement of adultsWhole-exome sequencingLiver diseaseAdult patientsUnknown etiologyHeterozygous variantsUse of WESAmelioration of dyslipidemiaDaily insulin requirementLeptin replacement therapyUtility of WESChronic liver diseaseNon-alcoholic steatohepatitisAcademic health care centerHealth care centersHomozygous pathogenic variantUnrelated adult patientsNon-oncological diseasesDisease preventive measuresInsulin requirementsLean patientsDevastating complicationLiver aminotransferases
2015
Performing Colonic Mast Cell Counts in Patients With Chronic Diarrhea of Unknown Etiology Has Limited Diagnostic Use
Sethi A, Jain D, Roland BC, Kinzel J, Gibson J, Schrader R, Hanson JA. Performing Colonic Mast Cell Counts in Patients With Chronic Diarrhea of Unknown Etiology Has Limited Diagnostic Use. Archives Of Pathology & Laboratory Medicine 2015, 139: 225-32. PMID: 25611105, DOI: 10.5858/arpa.2013-0594-oa.Peer-Reviewed Original ResearchConceptsHigh-power fieldMC countChronic diarrheaMast cell countsUnknown etiologyMast cellsCutoff valueMastocytic enterocolitisLeft colonBiopsy resultsClinical utilityDiscriminatory cutoff valuesCell countC-kit stainConsecutive control patientsMast cell stabilizerSpecific cutoff valuesSingle high-power fieldControl patientsConsecutive patientsNormal biopsiesCell stabilizerCharacteristic analysisStudy groupSpecial stains
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
Eosinophilic Myenteric Ganglionitis
Chander B, Fiedler P, Jain D. Eosinophilic Myenteric Ganglionitis. Journal Of Clinical Gastroenterology 2011, 45: 314-316. PMID: 20921901, DOI: 10.1097/mcg.0b013e3181f5978a.Peer-Reviewed Original ResearchConceptsEosinophilic myenteric ganglionitisMyenteric ganglionitisAuerbach's plexusSigmoid colonFunctional bowel obstructionOnly significant findingBowel dysmotilityFecal disimpactionRecurrent obstipationBowel obstructionClinical improvementHartmann's procedureUnknown etiologyCase reportDisease entityMuscular layerGanglionitisResectionEosinophilsPlexusColonInfiltrationSignificant findingsDysmotilityObstipation