0000000001318587

AUTHOR

Alessio Gerussi

showing 5 related works from this author

Accuracy of Transient Elastography in Assessing Fibrosis at Diagnosis in Naïve Patients With Primary Biliary Cholangitis: A Dual Cut-Off Approach

2021

Background & aims Liver fibrosis holds a relevant prognostic meaning in primary biliary cholangitis (PBC). Non-invasive fibrosis evaluation using vibration-controlled transient elastography (VCTE) is routinely performed. However, there is limited evidence on its accuracy at diagnosis in PBC. We aimed to estimate the diagnostic accuracy of VCTE in assessing advanced fibrosis at disease presentation in PBC. Approach & results We collected data from 167 consecutive treatment-naive PBC patients who underwent liver biopsy(LB) at diagnosis at six Italian centers. VCTE examinations were completed within 12 weeks of LB. Biopsies were scored by two blinded expert pathologists, according to Ludwig sy…

area under curve0301 basic medicinemedicine.medical_specialtyliver cirrhosisDiagnostic accuracyrisk stratificationPBCGastroenterologyprimary biliary cholangitiarea under curve; elasticity imaging techniques; female; humans; liver cirrhosis; biliary; male; middle aged; ROC curve; sensitivity and specificityTherapy naive03 medical and health sciences0302 clinical medicinemaleFibrosisInternal medicinemiddle agedmedicinehumansHepatologyReceiver operating characteristicmedicine.diagnostic_testLiver Cirrhosis Biliarybusiness.industryOriginal Articlesmedicine.diseasetransient elastographyROC curveelasticity imaging techniquesAutoimmune Cholestatic and Biliary Diseasefemale030104 developmental biologysensitivity and specificityLiver biopsyCohortOriginal Article030211 gastroenterology & hepatologydiagnostic accuracyCut-offTransient elastographybusinessfibrosibiliary
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X Chromosome Contribution to the Genetic Architecture of Primary Biliary Cholangitis

2021

Background & aims: Genome-wide association studies in primary biliary cholangitis (PBC) have failed to find X chromosome (chrX) variants associated with the disease. Here, we specifically explore the chrX contribution to PBC, a sexually dimorphic complex autoimmune disease. Methods: We performed a chrX-wide association study, including genotype data from 5 genome-wide association studies (from Italy, United Kingdom, Canada, China, and Japan; 5244 case patients and 11,875 control individuals). Results: Single-marker association analyses found approximately 100 loci displaying P < 5 × 10-4, with the most significant being a signal within the OTUD5 gene (rs3027490; P = 4.80 × 10-6; odds…

Canadian-US PBC Consortium0301 basic medicineMaleLinkage disequilibriumGenome-wide association studyDiseasePBCSettore MED/03 - GENETICA MEDICALinkage Disequilibrium0302 clinical medicineUK-PBC ConsortiumGenotypeMitochondrial Precursor Protein Import Complex ProteinsItalian PBC Genetics Study GroupOdds RatioX-Wide Association StudyJapan PBC-GWAS ConsortiumX chromosomeGeneticsLiver Cirrhosis BiliaryGastroenterologyForkhead Transcription FactorsDNA-Binding ProteinsShal Potassium Channels030211 gastroenterology & hepatologyFemaleAdultMonosaccharide Transport ProteinsSuperenhancerLocus (genetics)Single-nucleotide polymorphismBiologyProtein Serine-Threonine KinasesPolymorphism Single NucleotideArticleWhite People03 medical and health sciencesAsian PeopleProto-Oncogene ProteinsEndopeptidasesHumansCell LineageGenetic Predisposition to DiseaseMeta-analysiGenetic associationChromosomes Human XGastroenterology & HepatologyHepatology1103 Clinical SciencesMeta-analysis030104 developmental biologyGenetic Loci1114 Paediatrics and Reproductive MedicineMeta-analysis; Superenhancer; X-Wide Association Study1109 NeurosciencesCarrier ProteinsGenome-Wide Association Study
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An international genome-wide meta-analysis of primary biliary cholangitis: Novel risk loci and candidate drugs.

2021

[BACKGROUND & AIMS] Primary biliary cholangitis (PBC) is a chronic liver disease in which autoimmune destruction of the small intra-hepatic bile ducts eventually leads to cirrhosis. Many patients have inadequate response to licensed medications, motivating the search for novel therapies. Previous genome-wide association studies (GWAS) and meta-analyses (GWMA) of PBC have identified numerous risk loci for this condition, providing insight into its aetiology. We undertook the largest GWMA of PBC to date, aiming to identify additional risk loci and prioritise candidate genes for in silico drug efficacy screening. [METHODS] We combined new and existing genotype data for 10, 516 cases and 20, 77…

Liver CirrhosisALSPAC; ERN RARE-LIVER; Genomic co-localization; Network-based in silico drug efficacy screening; UK-PBC0301 basic medicineCandidate geneALSPAC; ERN RARE-LIVER; Genomic co-localization; Network-based in silico drug efficacy screening; UK-PBC; Genome-Wide Association Study; Humans; Liver Cirrhosis BiliaryItalian PBC Study GroupLD SCORE REGRESSIONJapan-PBC-GWAS ConsortiumGenome-wide association studyLocus (genetics)DiseaseSUSCEPTIBILITYPBCChronic liver diseaseBioinformaticsGENETIC ASSOCIATION1117 Public Health and Health Services03 medical and health sciences0302 clinical medicineUK-PBC ConsortiumGenotypeHumansMedicineNetwork-based in silico drug efficacy screeningGenetic associationScience & TechnologyGastroenterology & HepatologyHepatologyLiver Cirrhosis Biliarybusiness.industryBiliaryChinese PBC Consortium1103 Clinical SciencesALSPACmedicine.diseasePBC Consortia030104 developmental biologyMeta-analysisERN RARE LIVER030211 gastroenterology & hepatologyGenomic co-localizationUK-PBCUS PBC ConsortiumERN RARE-LIVERCanadian PBC ConsortiumbusinessLife Sciences & BiomedicineGenome-Wide Association StudyHuman
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Real-world experience with obeticholic acid in patients with primary biliary cholangitis

2021

Background & aims Obeticholic acid (OCA) is the second-line treatment approved for patients with primary biliary cholangitis (PBC) and an inadequate response or intolerance to ursodeoxycholic acid. We aimed to evaluate the effectiveness and safety of OCA under real-world conditions. Methods Patients were recruited into the Italian PBC Registry, a multicentre, observational cohort study that monitors patients with PBC at national level. The primary endpoint was the biochemical response according to Poise criteria; the secondary endpoint was the biochemical response according to normal range criteria, defined as normal levels of bilirubin, alkaline phosphatase (ALP), and alanine aminotransfer…

upper limit of normalCirrhosisALTAMAAutoimmunityantinuclear antibodiesULNPBCGastroenterologyUDCASettore MED/12ULN upper limit of normalobeticholic acidaRR adjusted risk ratio.CRFs case record formAST aspartate transferaseClinical endpointGGT gamma-glutamyl transferaseQCprimary biliary cholangitisGastroenterologyUrsodeoxycholic acidANATCCCirrhosisCholestasiTIPSTreatment Completer CohortANA antinuclear antibodiemedicine.medical_specialtyRRUDCA ursodeoxycholic acidTIPS transjugular intrahepatic portosystemic shuntOCACirrhosiALP alkaline phosphataseautoimmune hepatitismedicine.diseasedigestive system diseasesDiscontinuationKeywords: AIH autoimmune hepatitiQC quality controlchemistrygamma-glutamyl transferaserandomised controlled trialelectronic data captureantimitochondrial antibodiesaspartate transferaseAutoimmune hepatitischemistry.chemical_compoundAIHCRFsImmunology and Allergyadjusted risk ratioANA antinuclear antibodiesRR risk ratioOverall cohortALT alanine transferaseAMA antimitochondrial antibodieCholestasisCRFs case record formsObeticholic acidOverlap PBC-AIHursodeoxycholic acidOCA obeticholic acidTolerabilityalkaline phosphataseRCTResearch Articlemedicine.drugcase record formsContext (language use)AMA antimitochondrial antibodiesInternal medicineEDC electronic data capturetransjugular intrahepatic portosystemic shuntInternal MedicinemedicineRCT randomised controlled trialaRR adjusted risk ratioOClcsh:RC799-869quality controlalanine transferaseASTaRRHepatologybusiness.industryAutoimmunity; Cholestasis; Cirrhosis; Overlap PBC-AIHAIH autoimmune hepatitisTCC Treatment Completer CohortPBC primary biliary cholangitiGGTrisk ratioOC Overall cohortALPlcsh:Diseases of the digestive system. GastroenterologyPBC primary biliary cholangitisbusinessEDC
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Link to dataset related to article "X Chromosome Contribution to the Genetic Architecture of Primary Biliary Cholangitis"

2021

Link to dataset related to article "X Chromosome Contribution to the Genetic Architecture of Primary Biliary Cholangitis" Abstract Background & aims: Genome-wide association studies in primary biliary cholangitis (PBC) have failed to find X chromosome (chrX) variants associated with the disease. Here, we specifically explore the chrX contribution to PBC, a sexually dimorphic complex autoimmune disease. Methods: We performed a chrX-wide association study, including genotype data from 5 genome-wide association studies (from Italy, United Kingdom, Canada, China, and Japan; 5244 case patients and 11,875 control individuals). Results: Single-marker association analyses found approx…

X-Wide Association Study.Meta-analysisSuperenhancer
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