2023
Advancing diagnosis and management of liver disease in adults through exome sequencing
Zheng M, Hakim A, Konkwo C, Deaton A, Ward L, Genetics A, Silveira M, Assis D, Liapakis A, Jaffe A, Jiang Z, Curry M, Lai M, Cho M, Dykas D, Bale A, Mistry P, Vilarinho S. Advancing diagnosis and management of liver disease in adults through exome sequencing. EBioMedicine 2023, 95: 104747. PMID: 37566928, PMCID: PMC10433007, DOI: 10.1016/j.ebiom.2023.104747.Peer-Reviewed Original ResearchConceptsLiver diseaseWhole-exome sequencingUnknown etiologyTertiary referral academic medical centerReferral academic medical centerExome sequencingLiver disease patientsManagement of adultsAcademic health care centerComprehensive clinical evaluationHealth care centersAcademic medical centerGenetic variantsRare genetic variantsAdult patientsLiver centersHepatic steatosisDisease patientsClinical evaluationCare centerFamily historyMedical CenterClinical valueAdult medicinePatients
2019
Exome Sequencing in Clinical Hepatology
Vilarinho S, Mistry PK. Exome Sequencing in Clinical Hepatology. Hepatology 2019, 70: 2185-2192. PMID: 31222768, PMCID: PMC6885087, DOI: 10.1002/hep.30826.BooksConceptsWhole-exome sequencingClinical diagnosisUtility of WESCare of patientsCongenital chloride diarrheaLiver clinicLiver diseaseClinical hepatologyDefinitive diagnosisNovel genetic disorderPediatric disordersClinical relevanceChloride diarrheaSalt-wasting diseaseExome sequencingDiagnosisGenetic disordersDiseaseDisordersPractice of medicineNumerous studiesDiarrheaPatientsHepatologyClinicReply to: “Whole exome sequencing for personalized hepatology: Expanding applications in adults and challenges”
Hakim A, Mistry PK, Vilarinho S. Reply to: “Whole exome sequencing for personalized hepatology: Expanding applications in adults and challenges”. Journal Of Hepatology 2019, 71: 850-851. PMID: 31378425, DOI: 10.1016/j.jhep.2019.07.005.Peer-Reviewed Case Reports and Technical NotesClinical 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
2010
Liver transplantation for inherited metabolic disorders of the liver
Moini M, Mistry P, Schilsky ML. Liver transplantation for inherited metabolic disorders of the liver. Current Opinion In Organ Transplantation 2010, 15: 269-276. PMID: 20489626, DOI: 10.1097/mot.0b013e3283399dbd.Peer-Reviewed Original ResearchConceptsLiver transplantExtrahepatic diseaseLiver transplantationGlycogen storage disease type ICareful patient selectionOutcome of transplantationImportant therapeutic modalityMultisystemic genetic disorderMajor hepatic diseasesUrea cycle defectsGene replacement therapyHepatic complicationsSurgical managementLiver replacementMetabolic managementPatient selectionPrimary hyperoxaluriaReplacement therapyHepatic diseaseImproved outcomesTherapeutic modalitiesMetabolic disordersMetabolic diseasesTransplantLiver results
2008
Inherited metabolic disease of the liver
Taddei T, Mistry P, Schilsky ML. Inherited metabolic disease of the liver. Current Opinion In Gastroenterology 2008, 24: 278-286. PMID: 18408455, DOI: 10.1097/mog.0b013e3282fcbc0f.Books
1984
Abnormal high density lipoproteins from patients with liver disease regulate cholesterol metabolism in cultured human skin fibroblasts.
Owen JS, Goodall H, Mistry P, Harry DS, Day RC, McIntyre N. Abnormal high density lipoproteins from patients with liver disease regulate cholesterol metabolism in cultured human skin fibroblasts. Journal Of Lipid Research 1984, 25: 919-931. PMID: 6491539, DOI: 10.1016/s0022-2275(20)37730-0.Peer-Reviewed Original ResearchMeSH KeywordsAdultAgedBinding, CompetitiveCells, CulturedCholesterolElectrophoresis, Polyacrylamide GelFemaleFibroblastsHepatitis, AlcoholicHepatitis, ChronicHumansIsoelectric FocusingLipoproteins, HDLLipoproteins, LDLLiver Cirrhosis, AlcoholicLiver Cirrhosis, BiliaryLiver DiseasesMaleMiddle AgedSucroseConceptsPatients' high-density lipoproteinHigh-density lipoproteinLiver diseaseCholesterol metabolismCultured human skin fibroblastsDensity lipoproteinCell cholesteryl ester contentReceptor activityMicrograms/Human skin fibroblastsAbnormal high-density lipoproteinNormal high density lipoproteinsHDL protein concentrationLow-density lipoproteins bindSkin fibroblastsLDL receptor pathwayCholesteryl ester contentIntracellular cholesterol metabolismCellular cholesterol esterificationHigh-affinity receptorReceptor-mediated pathwayDegradation of 125ICellular cholesterol metabolismLDL catabolismApolipoprotein B