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 StatementsMeSH KeywordsExome SequencingGenetic TestingGenomicsHigh-Throughput Nucleotide SequencingHumansLiver CirrhosisMolecular MedicineConceptsCryptogenic 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