0000000000331736

AUTHOR

Flaminia Ferri

0000-0001-8553-5589

showing 3 related works from this author

A two gene-based risk score predicts alcoholic cirrhosis development in males with at-risk alcohol consumption

2019

Rosellina Margherita Mancina,1,* Flaminia Ferri,2,* Alessio Farcomeni,3 Antonio Molinaro,1 Angela Maffongelli,4 Monica Mischitelli,2 Edoardo Poli,2 Lucia Parlati,5 Maria Antonella Burza,6 Adriano De Santis,2 Fabio Attilia,2 Claudia Rotondo,2 Maria Margherita Rando,2 Maria Luisa Attilia,2 Mauro Ceccanti,2 Stefano Ginanni Corradini2 1Department of Molecular and Clinical Medicine, The Sahlgrenska Academy at the University of Gothenburg, Wallenberg Laboratory, Göteborg, Sweden; 2Department of Translational and Precision Medicine, Sapienza University of Rome, Rome, Italy; 3Department of Public Health and Infectious Diseases, Sapienza University of Rome, Rome, Italy; 4Department of Gener…

0301 basic medicineAlcoholic liver diseasemedicine.medical_specialtylcsh:QH426-470AlcoholGastroenterologyPredictive score03 medical and health scienceschemistry.chemical_compound0302 clinical medicineInternal medicinemedicineGeneticsAllelePNPLA3Genetics (clinical)Original Researchlcsh:R5-920Framingham Risk ScoreReceiver operating characteristicbusiness.industryIncidence (epidemiology)Alcoholic cirrhosis; CD14; PNPLA3; Predictive score; Genetics; Genetics (clinical)medicine.diseaselcsh:Genetics030104 developmental biologyAlcoholic cirrhosischemistryThe Application of Clinical Geneticsbusinesslcsh:Medicine (General)Settore SECS-S/01 - StatisticaCD14Body mass index030217 neurology & neurosurgeryTM6SF2The Application of Clinical Genetics
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Severe reduction of blood lysosomal acid lipase activity in cryptogenic cirrhosis: A nationwide multicentre cohort study

2017

Background and aims Blood lysosomal acid lipase (LAL) is reduced in non-alcoholic steatohepatitis, which is the major cause of cryptogenic cirrhosis (CC); few data on LAL activity in CC do exist. We investigated LAL activity in a cohort of patients with liver cirrhosis. Methods This is a multicentre cohort study including 274 patients with liver cirrhosis of different aetiology from 19 centres of Internal Medicine, Gastroenterology and Hepatology distributed throughout Italy. Blood LAL activity (nmol/spot/h) was measured with dried blood spot extracts using Lalistat 2. Results Overall, 133 patients had CC, and 141 patients had cirrhosis by other causes (61 viral, 53 alcoholic, 20 alcoholic …

Liver CirrhosisMaleCryptogenic cirrhosis; Liver disease; Lysosomal acid lipase; PathogenesisCirrhosisCryptogenic cirrhosisCryptogenic cirrhosis; Liver disease; Lysosomal acid lipase; Pathogenesis; Cardiology and Cardiovascular MedicineComorbidityPathogenesisLysosonal acid lipase; non-alcoolic fatty liver disease; cirrhosis030204 cardiovascular system & hematologyGastroenterologyLiver disease0302 clinical medicineModel for End-Stage Liver DiseasePathogenesiRisk FactorsPrevalenceProspective cohort studyMultivariate AnalysiSettore MED/12 - GastroenterologiaMiddle AgedItalyCohortLinear Model030211 gastroenterology & hepatologyFemaleCardiology and Cardiovascular MedicineLiver diseaseHumanmedicine.medical_specialtyLiver CirrhosiDown-Regulation03 medical and health sciencesInternal medicineCryptogenic cirrhosis; Liver disease; Lysosomal acid lipase; Pathogenesis; Aged; Biomarkers; Chi-Square Distribution; Comorbidity; Cross-Sectional Studies; Down-Regulation; Dried Blood Spot Testing; Female; Humans; Italy; Linear Models; Liver Cirrhosis; Male; Middle Aged; Multivariate Analysis; Platelet Count; Prevalence; Risk Factors; Sterol EsterasemedicineLysosonal acid lipaseHumansnon-alcoolic fatty liver diseaseAgedCross-Sectional StudieChi-Square Distributionbusiness.industryPlatelet CountcirrhosisRisk FactorBiomarkerCholesterol ester storage diseaseHepatologySterol Esterasemedicine.diseaseCross-Sectional StudiesMultivariate AnalysisLysosomal acid lipaseLinear ModelsDried Blood Spot TestingSteatohepatitisbusinessCryptogenic cirrhosiBiomarkers
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MBOAT7 rs641738 variant and hepatocellular carcinoma in non-cirrhotic individuals

2017

AbstractNonalcoholic fatty liver disease (NAFLD) represents an emerging cause of hepatocellular carcinoma (HCC), especially in non-cirrhotic individuals. The rs641738 C > T MBOAT7/TMC4 variant predisposes to progressive NAFLD, but the impact on hepatic carcinogenesis is unknown. In Italian NAFLD patients, the rs641738 T allele was associated with NAFLD-HCC (OR 1.65, 1.08–2.55; n = 765), particularly in those without advanced fibrosis (p < 0.001). The risk T allele was linked to 3’-UTR variation in MBOAT7 and to reduced MBOAT7 expression in patients without severe fibrosis. The number of PNPLA3, TM6SF2, and MBOAT7 risk variants was associated with NAFLD-HCC independently of clinical fa…

0301 basic medicineLiver CirrhosisMaleAlcoholic liver diseasePathologyCirrhosisliver diseasesGastroenterology0302 clinical medicineSettore BIO/13 - Biologia ApplicataNon-alcoholic Fatty Liver DiseaseRisk FactorsNonalcoholic fatty liver diseasefatty liver-disease; cirrhosis; liver cancer; hepatitis C; hepatocellular carcinoma; liver diseases; fibrosis; carcinogenesis; fatty liver; allelesHCCProspective cohort studySettore MED/12 - GastroenterologiaMultidisciplinaryLiver NeoplasmsQRhepatocellular carcinomaSingle NucleotideMiddle Aged3. Good healthItalyfatty liver-diseaseHepatocellular carcinomaCohortMedicine030211 gastroenterology & hepatologyFemalecarcinogenesisAcyltransferases; Adult; Aged; Carcinoma Hepatocellular; Female; Gene Expression Regulation; Genotype; Humans; Italy; Liver Cirrhosis; Liver Neoplasms; Male; Membrane Proteins; Middle Aged; Non-alcoholic Fatty Liver Disease; Polymorphism Single Nucleotide; Risk Factors; Alleles; Genetic Association Studies; Genetic Predisposition to Disease; Genetic VariationAdultmedicine.medical_specialtyCarcinoma HepatocellularGenotypeSciencePolymorphism Single NucleotideArticleliver cancer03 medical and health sciencesInternal medicinemedicineHumansGenetic Predisposition to DiseaseAllelePolymorphismAllelesGenetic Association Studiesfatty liverAgedSettore MED/06 - ONCOLOGIA MEDICAbusiness.industrycirrhosisfibrosisCarcinomaGenetic VariationMembrane ProteinsHepatocellularmedicine.diseasedigestive system diseases030104 developmental biologyGene Expression Regulationhepatitis CbusinessAcyltransferasesTM6SF2Scientific Reports
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