2024
Expanding the spectrum of progressive familial intrahepatic cholestasis: A report of 3 cases
Jiao J, Morotti R, Shafizadeh N, Jain D. Expanding the spectrum of progressive familial intrahepatic cholestasis: A report of 3 cases. American Journal Of Clinical Pathology 2024, aqae123. PMID: 39333837, DOI: 10.1093/ajcp/aqae123.Peer-Reviewed Original ResearchProgressive familial intrahepatic cholestasisATP-binding cassette subfamily B member 4Whole-exome sequencingFamilial intrahepatic cholestasisIntrahepatic cholestasisDiagnostic challengeGroup of autosomal recessive disordersAbnormal liver function testsHomozygous splice site variantDrug-induced liver injuryHeterozygous frameshift mutationHeterozygous missense mutationLiver function testsAged 2 monthsAutosomal recessive disorderSplice site variantHistory of alcoholismABCB4 mutationsPediatric ageLiver biopsyClinical historyRecessive disorderLiver injuryMolecular testingHeterogeneous presentation
2015
Trientine induced colitis during therapy for Wilson disease: a case report and review of the literature
Boga S, Jain D, Schilsky ML. Trientine induced colitis during therapy for Wilson disease: a case report and review of the literature. BMC Pharmacology And Toxicology 2015, 16: 30. PMID: 26589720, PMCID: PMC4654910, DOI: 10.1186/s40360-015-0031-z.Peer-Reviewed Original ResearchConceptsSide effectsInduced colitisZinc therapyRare side effectYear old femaleLess side effectsAutosomal recessive disorderActive ileitisSevere pancolitisTrientine therapyImpaired excretionMucosal injuryInitial treatmentNeuropsychiatric symptomsSafety profileBrain accumulationBloody diarrheaCase reportRecent diagnosisTrientine treatmentChelation therapyTrientineColitisMedical treatmentWD symptomsPresentation of Progressive Familial Intrahepatic Cholestasis Type 3 Mimicking Wilson Disease: Molecular Genetic Diagnosis and Response to Treatment
Boga S, Jain D, Schilsky ML. Presentation of Progressive Familial Intrahepatic Cholestasis Type 3 Mimicking Wilson Disease: Molecular Genetic Diagnosis and Response to Treatment. Pediatric Gastroenterology Hepatology & Nutrition 2015, 18: 202-208. PMID: 26473142, PMCID: PMC4600706, DOI: 10.5223/pghn.2015.18.3.202.Peer-Reviewed Original ResearchProgressive familial intrahepatic cholestasis type 3Wilson's diseaseElevated hepatic copperUrine copper excretionCurrent diagnostic criteriaAutosomal recessive disorderHepatic copper contentOlder patientsHepatocellular originUrsodeoxycholic acidDiagnostic criteriaMolecular genetic diagnosisCopper excretionABCB4 geneCholestasisDiagnosisBiochemical testingHepatic copperRecessive disorderType 3Novel mutationsGenetic diagnosisDiseaseMolecular diagnosticsTreatment
2001
Bloom Syndrome in Sibs: First Reports of Hepatocellular Carcinoma and Wilms Tumor with Documented Anaplasia and Nephrogenic Rests
Jain D, Hui P, McNamara J, Schwartz D, German J, Reyes-Múgica M. Bloom Syndrome in Sibs: First Reports of Hepatocellular Carcinoma and Wilms Tumor with Documented Anaplasia and Nephrogenic Rests. Pediatric And Developmental Pathology 2001, 4: 585-589. DOI: 10.1007/s10024-001-0082-6.Peer-Reviewed Original ResearchWilms tumorHepatocellular carcinomaNephrogenic restsLiver cell neoplasmsSpectrum of malignanciesComplex cytogenetic abnormalitiesRare autosomal recessive disorderAutosomal recessive disorderAnaplastic Wilms tumorBloom syndromeMyelodysplastic syndromeFacial erythemaCell neoplasmsStriking predisposition