Search results for " CHC"

showing 3 items of 3 documents

CHCH10 mutations in an Italian cohort of familial and sporadic amyotrophic lateral sclerosis patients

2015

Mutations in CHCHD10 have recently been described as a cause of frontotemporal dementia (FTD) comorbid with amyotrophic lateral sclerosis (ALS). The aim of this study was to assess the frequency and clinical characteristics of CHCHD10 mutations in Italian patients diagnosed with familial (n= 64) and apparently sporadic ALS (n= 224). Three apparently sporadic patients were found to carry c.100C>T (p.Pro34Ser) heterozygous variant in the exon 2 of CHCHD10. This mutation had been previously described in 2 unrelated French patients with FTD-ALS. However, our patients had a typical ALS, without evidence of FTD, cerebellar or extrapyramidal signs, or sensorineural deficits. We confirm that CHC…

MaleAgingPediatricsmedicine.medical_specialtyPathologyAmyotrophic lateral sclerosis; CHCHD10; Familial; Sporadic; Aged; Amyotrophic Lateral Sclerosis; Cohort Studies; Female; Frontotemporal Dementia; Genetic Predisposition to Disease; Humans; Italy; Male; Middle Aged; Mitochondrial Proteins; Genetic Association Studies; MutationGenetic Association StudieDiseaseSettore MED/03 - GENETICA MEDICAmedicine.disease_causeCohort StudiesMitochondrial ProteinsExonFamilialmental disordersmedicineHumansMitochondrial ProteinDementiaGenetic Predisposition to DiseaseAmyotrophic lateral sclerosisAmyotrophic lateral sclerosis; CHCHD10; Familial; Sporadic; Aged; Amyotrophic Lateral Sclerosis; Cohort Studies; Female; Frontotemporal Dementia; Genetic Predisposition to Disease; Humans; Italy; Male; Middle Aged; Mitochondrial Proteins; Genetic Association Studies; Mutation; Neurology (clinical); Neuroscience (all); Aging; Developmental Biology; Geriatrics and GerontologyGenetic Association StudiesAmyotrophic lateral sclerosiAgedMutationNeuroscience (all)business.industryGeneral NeuroscienceMiddle AgedAmyotrophic lateral sclerosisSporadicmedicine.disease3. Good healthAmyotrophic lateral sclerosis; CHCHD10; Familial; SporadicCHCHD10ItalyFrontotemporal DementiaMutationCohortFemaleNeurology (clinical)Cohort StudieGeriatrics and GerontologybusinessHumanDevelopmental BiologyFrontotemporal dementiaCohort studyNeurobiology of Aging
researchProduct

TM6SF2 rs58542926 is not associated with steatosis and fibrosis in largecohort of patients with genotype 1 chronic hepatitis C

2016

Background & Aims We tested the putative association of the rs58542926 variant of TM6SF2, a recently described genetic determinant of nonalcoholic fatty liver disease, with steatosis and fibrosis in genotype 1(G1) chronic hepatitis C(CHC) patients. Methods A total of 694 consecutively biopsied Caucasian G1 CHC patients were genotyped for TM6SF2 rs58542926, IL28B rs12979860 and PNPLA3 rs738409. Steatosis was classified as absent (<5%), mild-moderate(5–29%) and severe(≥30%), Fibrosis was considered severe if=F3-F4. Results Carriers of TM6SF2 rs58542926 (6.3% of patients) exhibited lower serum levels of cholesterol (P = 0.04) and triglycerides (P = 0.01), but a similar distribution of steatosi…

0301 basic medicineLiver CirrhosisMalesteatosiIL28BStatistics as TopicGastroenterologySeverity of Illness IndexCohort Studies0302 clinical medicineFibrosisNon-alcoholic Fatty Liver DiseaseNonalcoholic fatty liver diseaseMembrane ProteinFatty liverHepatitis CMiddle AgedItalyLiver030211 gastroenterology & hepatologyFemaleHumanAdultmedicine.medical_specialtyLiver Cirrhosisteatosis; CHC; IL28B; PNPLA3; TM6SF2; Adult; Cohort Studies; Female; Hepatitis C Chronic; Humans; Interleukins; Italy; Lipase; Liver; Male; Membrane Proteins; Middle Aged; Severity of Illness Index; Statistics as Topic; Fatty Liver; Liver Cirrhosis; Non-alcoholic Fatty Liver Disease; HepatologyTM6SF203 medical and health sciencesInternal medicineSeverity of illnessmedicineHumansPNPLA3Hepatologybusiness.industryInterleukinsMembrane ProteinsOdds ratioLipaseHepatologyHepatitis C ChronicInterleukinmedicine.diseaseFatty LiverCHC030104 developmental biologyEndocrinologyInterferonsSteatosisCohort Studiebusiness
researchProduct

Cost effectiveness of boceprevir or telaprevir for previously treated patients with genotype 1 chronic hepatitis C.

2013

Background & Aims Randomised controlled trials (RCTs) show that triple therapy (TT) with peginterferon alfa, ribavirin, and boceprevir (BOC) or telaprevir (TVR) is more effective than peginterferon-ribavirin dual therapy (DT) in the treatment of genotype 1 (G1) chronic hepatitis C (CHC) patients with previous relapse (RR), partial response (PAR), and null-response (NR). We assess the cost-effectiveness of TT compared to no therapy in the treatment of patients previously treated with G1 CHC. Methods The available published literature provided the data source. The target population was made up of previously treated Caucasian patients with G1 CHC and these were evaluated over a lifetime horizo…

MaleTVRCost effectivenessCost-Benefit AnalysisPIPeginterferon-alfaBOCHepacivirusBOC Boceprevir CHC Cost-effectiveness DT G1 ICER NR PAR PI PegIFN RBV RR TVR Telaprevir boceprevir chronic hepatitis C dual therapy genotype 1 incremental cost-effectiveness ratio non-response partial response pegylated interferon protease inhibitors relapse ribavirin telaprevirTelaprevirTelaprevirchemistry.chemical_compoundPegylated interferonnon-responseboceprevirincremental cost-effectiveness ratioRBVTreatment FailureDThealth care economics and organizationsRandomized Controlled Trials as Topicrelapsecost effectivenessICERMiddle AgedMarkov ChainsModels EconomicItalyQuality-Adjusted Life YearsSettore SECS-P/02 - politica economicaSettore SECS-S/01 - StatisticaIncremental cost-effectiveness ratioOligopeptidesmedicine.drugmedicine.medical_specialtyGenotypeProlineribavirinSettore MED/12 - GASTROENTEROLOGIAprotease inhibitorsNRRRAntiviral AgentsInternal medicineBoceprevirG1medicineHumanschronic hepatitis Cpegylated interferongenotype 1Hepatologybusiness.industryRibavirindual therapyHepatitis C ChronicQuality-adjusted life yearSurgeryCHCPegIFNchemistryCost-effectivenesspartial responsebusinessPAR
researchProduct