Search results for "recurrence"

showing 10 items of 1036 documents

High Rate of Recurrent De Novo Mutations in Developmental and Epileptic Encephalopathies

2017

Item does not contain fulltext Developmental and epileptic encephalopathy (DEE) is a group of conditions characterized by the co-occurrence of epilepsy and intellectual disability (ID), typically with developmental plateauing or regression associated with frequent epileptiform activity. The cause of DEE remains unknown in the majority of cases. We performed whole-genome sequencing (WGS) in 197 individuals with unexplained DEE and pharmaco-resistant seizures and in their unaffected parents. We focused our attention on de novo mutations (DNMs) and identified candidate genes containing such variants. We sought to identify additional subjects with DNMs in these genes by performing targeted sequ…

Male0301 basic medicineCandidate genemedicine.medical_specialtymedical geneticsglycosylationNonsense mutationGenome-wide association studyGene mutationBiologySensory disorders Donders Center for Medical Neuroscience [Radboudumc 12]Articlesevere intellectual disability03 medical and health sciencesEpilepsy0302 clinical medicinechildrenRecurrenceSeizuresGenetic linkageIntellectual Disability[ SDV.MHEP ] Life Sciences [q-bio]/Human health and pathologyJournal ArticleGeneticsmedicineHumansChilddisordersGenetics (clinical)Genetic associationGeneticsBrain DiseasesdiseaseEpilepsycis-prenyltransferaseGenome Humanstructural basismedicine.diseasediphosphate synthase030104 developmental biologyChild PreschoolMutationMedical geneticsFemalenogo-b receptor030217 neurology & neurosurgery[SDV.MHEP]Life Sciences [q-bio]/Human health and pathologyGenome-Wide Association StudyMeta-Analysis
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Efficacy of N-acetylcysteine in the prevention of alcohol relapse-like drinking: Study in long-term ethanol-experienced male rats

2021

Alcohol use disorders are chronic and highly relapsing disorders, thus alcoholic patients have a high rate of recidivism for drug use even after long periods of abstinence. The literature points to the potential usefulness of N-acetylcysteine (NAC) in the management of several substance use disorders probably due to its capacity to restore brain homeostasis of the glutamate system disrupted in addiction. However, there is little evidence in the case of alcohol. The aim of this study was to explore the potential anti-relapse efficacy of NAC using the alcohol deprivation effect (ADE) model in long-term experienced rats. Two experiments were performed in male Wistar rats to: (a) test the effic…

Male0301 basic medicineDrugAlcohol DrinkingInjections Subcutaneousmedia_common.quotation_subjectDrug Evaluation PreclinicalAlcoholPharmacologyInfusions Subcutaneous:CIENCIAS DE LA VIDA [UNESCO]ethanol relapse preventionAcetylcysteineRandom Allocation03 medical and health sciencesCellular and Molecular Neurosciencechemistry.chemical_compoundSubcutaneous injection0302 clinical medicinePharmacotherapyalcohol use disordersRecurrenceglutamate neurotransmissionUNESCO::CIENCIAS DE LA VIDAAnimalsMedicineRats Wistarmedia_commonEthanolEthanolbusiness.industryAbstinencealcohol deprivation effecAcetylcysteineRatsSubstance Withdrawal SyndromeAlcoholismRegimen030104 developmental biologychemistryModels Animalbusiness030217 neurology & neurosurgerymedicine.drug
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Comprehensive Genomic and Transcriptomic Analysis of Three Synchronous Primary Tumours and a Recurrence from a Head and Neck Cancer Patient

2021

Synchronous primary malignancies occur in a small proportion of head and neck squamous cell carcinoma (HNSCC) patients. Here, we analysed three synchronous primaries and a recurrence from one patient by comparing the genomic and transcriptomic profiles among the tumour samples and determining the recurrence origin. We found remarkable levels of heterogeneity among the primary tumours, and through the patterns of shared mutations, we traced the origin of the recurrence. Interestingly, the patient carried germline variants that might have predisposed him to carcinogenesis, together with a history of alcohol and tobacco consumption. The mutational signature analysis confirmed the impact of alc…

Male0301 basic medicineOncologyAlcohol exposuremedicine.disease_causeGermlineNeoplasms Multiple PrimaryTranscriptomeFatal Outcome0302 clinical medicineMedicineBiology (General)Immune cell infiltrationSpectroscopysynchronous multiple primary malignanciesSmokersimmune cell infiltrationGenomicsGeneral MedicineComputer Science Applicationswhole exome sequencing (WES)Chemistrysomatic single nucleotide variantsHead and Neck Neoplasms030220 oncology & carcinogenesismedicine.medical_specialtyrecurrent head and neck squamous cell carcinoma (HNSCC)Alcohol DrinkingQH301-705.5ArticleCatalysisInorganic Chemistry03 medical and health sciencesInternal medicineHumansPhysical and Theoretical ChemistryQD1-999Molecular BiologyAgedNeoplasm Stagingbusiness.industryGene Expression ProfilingOrganic ChemistryHead and neck cancerRNA sequencing (RNA-seq)medicine.diseaseHead and neck squamous-cell carcinoma030104 developmental biologygermline variantsMutationClinical valueNeoplasm Recurrence LocalbusinessCarcinogenesisInternational Journal of Molecular Sciences
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Bispecific T-Cell Engager (BiTE) Antibody Construct Blinatumomab for the Treatment of Patients With Relapsed/Refractory Non-Hodgkin Lymphoma : Final …

2016

Purpose Blinatumomab is a CD19/CD3 BiTE (bispecific T-cell engager) antibody construct for the treatment of Philadelphia chromosome–negative acute B-lymphoblastic leukemia. We evaluated blinatumomab in relapsed/refractory B-cell non-Hodgkin lymphoma (NHL). Patients and Methods This 3 + 3 design, phase I dose-escalation study determined adverse events and the maximum tolerated dose (MTD) of continuous intravenous infusion blinatumomab in patients with relapsed/refractory NHL. Blinatumomab was administered over 4 or 8 weeks at seven different dose levels (0.5 to 90 μg/m2/day). End points were incidence of adverse events, pharmacokinetics, pharmacodynamics, and overall response rate. Results B…

Male0301 basic medicineOncologyCancer ResearchCD3 ComplexT-Lymphocytesmedicine.medical_treatmentMedizinLymphoma Mantle-CellLymphocyte Activation0302 clinical medicineRecurrenceGermanyhemic and lymphatic diseasesAntibodies BispecificMedicineMolecular Targeted TherapyInfusions IntravenousLymphoma FollicularLymphoma Non-HodgkinRemission InductionMiddle AgedLeukemiaTreatment OutcomeOncology030220 oncology & carcinogenesisFemaleBlinatumomabImmunotherapymedicine.drugAdultmedicine.medical_specialtyLymphoma B-CellMaximum Tolerated DoseAntigens CD19Antineoplastic AgentsDrug Administration Schedule03 medical and health sciencesPharmacokineticsRefractoryInternal medicineHumansAdverse effectbusiness.industryImmunotherapymedicine.diseaseLymphomaSurgery030104 developmental biologyPharmacodynamicsNervous System Diseasesbusiness
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Tumor infiltrating T lymphocytes expressing FoxP3, CCR7 or PD-1 predict the outcome of prostate cancer patients subjected to salvage radiotherapy aft…

2016

Tumor immunologic microenvironment is strongly involved in tumor progression and the presence of tumor infiltrating lymphocytes (TIL) with different phenotypes has been demonstrated to be of prognostic relevance in different malignancies. We investigated whether TIL infiltration of tumor tissues could also predict the outcome of prostate cancer patients. To this end, we carried out a retrospective analysis correlating the outcome of locally advanced prostate cancer patients undergone salvage radiotherapy upon relapse after radical surgery with the infiltration by different TIL populations. Twenty-two patients with resectable prostate cancer, with a mean age of 67 (+/−3.93) years, who receiv…

Male0301 basic medicineOncologyCancer Researchmedicine.medical_treatmentProgrammed Cell Death 1 ReceptorChemokyne Receptor 7Prostate cancer0302 clinical medicineRecurrencePD-1Tumor MicroenvironmentForkhead Transcription Factorshemic and immune systemsprostate cancerPrimary tumorChemokyne Receptor 7; disease-free survival; FoxP3; overall survival; PD-1; prognosis; prostate cancer; radiotherapy; T regulators lymphocytes; tumor infiltrating lymphocytesOncologytumor infiltrating lymphocytes030220 oncology & carcinogenesisMolecular MedicineprognosiResearch PaperReceptors CCR7medicine.medical_specialtydisease-free survivaloverall survivalchemical and pharmacologic phenomena03 medical and health sciencesLymphocytes Tumor-InfiltratingMedian follow-upFoxP3Internal medicineChemokyne Receptor 7; disease-free survival; FoxP3; overall survival; PD-1; prognosis; prostate cancer; radiotherapy; T regulators lymphocytes; tumor infiltrating lymphocytes; Molecular Medicine; Oncology; Pharmacology; Cancer ResearchT regulators lymphocytesmedicineHumansProgression-free survivalRadical surgeryradiotherapyAgedSalvage TherapyPharmacologybusiness.industryTumor-infiltrating lymphocytesProstatic Neoplasmsmedicine.diseaseRadiation therapyT regulators lymphocyte030104 developmental biologyTumor progressionprognosistumor infiltrating lymphocytebusinessCancer Biology & Therapy
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Vinflunine in the treatment of relapsed metastatic urothelial cancer: A systematic review and meta-analysis of real-world series

2019

Background. Vinflunine (VFL) is approved in Europe as second-line treatment of metastatic urothelial cancer after failure of platinum-containing therapy. We performed a systematic review and meta-analysis of real-world data (RWD) to assess utilization, efficacy and safety of VFL. \ud \ud Methods. We performed a MEDLINE search for the period of 1/1/2000-31/8/2017. Full-length articles providing post-marketing RWD on VFL in patients failing previous chemotherapy were eligible. Interventional clinical trials were excluded. \ud \ud Results: Ten studies with 797 patients were identified. According to pooled REs analysis, overall response rate was 19%, most frequent, all-grade toxicities were fat…

Male0301 basic medicineOncologyUrologic Neoplasmsmedicine.medical_specialtyVomitingNauseamedicine.medical_treatmentMEDLINEPlatinum CompoundsNeutropeniaVinblastine03 medical and health scienceschemistry.chemical_compound0302 clinical medicineRecurrenceInternal medicineAntineoplastic Combined Chemotherapy ProtocolsHumansMedicineNeoplasm MetastasisFatigueAgedChemotherapyVinfluninebusiness.industryNauseaHematologyMiddle Agedmedicine.diseaseEuropeClinical trialTreatment Outcome030104 developmental biologyOncologychemistry030220 oncology & carcinogenesisMeta-analysisVomitingFemalemedicine.symptombusinessConstipationCritical Reviews in Oncology/Hematology
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Ibrutinib versus temsirolimus in patients with relapsed or refractory mantle-cell lymphoma : an international, randomised, open-label, phase 3 study

2016

Mantle-cell lymphoma is an aggressive B-cell lymphoma with a poor prognosis. Both ibrutinib and temsirolimus have shown single-agent activity in patients with relapsed or refractory mantle-cell lymphoma. We undertook a phase 3 study to assess the efficacy and safety of ibrutinib versus temsirolimus in relapsed or refractory mantle-cell lymphoma.This randomised, open-label, multicentre, phase 3 clinical trial enrolled patients with relapsed or refractory mantle-cell lymphoma confirmed by central pathology in 21 countries who had received one or more rituximab-containing treatments. Patients were stratified by previous therapy and simplified mantle-cell lymphoma international prognostic index…

Male0301 basic medicineOncologymedicine.medical_specialtyPhases of clinical researchAntineoplastic AgentsKaplan-Meier EstimateLymphoma Mantle-Cell03 medical and health scienceschemistry.chemical_compound0302 clinical medicineInternational Prognostic IndexPiperidinesRecurrenceInternal medicinemedicineHumansAgedNeoplasm StagingAged 80 and overSirolimusbusiness.industryBortezomibAdenineGeneral MedicineMiddle AgedTemsirolimusSurgeryClinical trialPyrimidinesTreatment Outcome030104 developmental biologyTolerabilitychemistry030220 oncology & carcinogenesisIbrutinibRefractory Mantle Cell LymphomaPyrazolesFemalebusinessmedicine.drug
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EGFR gene copy number decreases during anti-EGFR antibody therapy in colorectal cancer

2018

Epidermal growth factor receptor (EGFR) gene copy number (GCN) increase is associated with a favorable anti-EGFR antibody treatment response in RAS wild-type metastatic colorectal cancer. However, there are limited and comparative data regarding the EGFR GCN in primary colorectal cancer tumors and corresponding metastases or the effect of anti-EGFR antibody treatment on EGFR GCN in recurrent disease. In addition, little is known about the potential EGFR GCN changes during anti-EGFR therapy in comparison with other treatment regimens. EGFR GCN was analyzed by EGFR immunohistochemistry-guided silver in situ hybridization in primary and corresponding recurrent local or metastatic tumors from 8…

Male0301 basic medicineTime FactorsColorectal cancerBLOCKADEGene DosageCetuximabmedicine.disease_causeAntineoplastic Agents Immunological0302 clinical medicinePREDICTS RESPONSEMedicineHETEROGENEITYBENEFITCopy-number variationEpidermal growth factor receptorIn Situ Hybridization FluorescenceAged 80 and overbiologyPanitumumabvasta-aineetMiddle AgedImmunohistochemistry3. Good healthErbB ReceptorsGene Expression Regulation NeoplasticTreatment OutcomeRAS MUTATIONSChemotherapy Adjuvant030220 oncology & carcinogenesisFemaleKRASAntibodyColorectal NeoplasmsAdultgene copy numbermedicine.drug_classCETUXIMAB THERAPY3122 Cancerssilver in situ hybridizationDown-Regulationcolorectal cancerIn situ hybridizationAdenocarcinomaMonoclonal antibodyta3111Pathology and Forensic MedicineProto-Oncogene Proteins p21(ras)03 medical and health sciencesKRASHumansWILD-TYPEMETAANALYSISAgedRetrospective Studiessyöpähoidotbusiness.industrymedicine.diseaseta3122Blockadeperäsuolisyöpä030104 developmental biologymonoclonal antibodyMutationCancer researchbiology.protein3111 BiomedicineNeoplasm Recurrence Localbusinessepidermal growth factor receptorACQUIRED-RESISTANCEHuman Pathology
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Multiclass HCV resistance to direct-acting antiviral failure in real-life patients advocates for tailored second-line therapies

2017

Background & Aims: Despite the excellent efficacy of direct-acting antivirals (DAA) reported in clinical trials, virological failures can occur, often associated with the development of resistance-associated substitutions (RASs). This study aimed to characterize the presence of clinically relevant RASs to all classes in real-life DAA failures. Methods: Of the 200 virological failures that were analyzed in 197 DAA-treated patients, 89 with pegylated-interferon+ribavirin (PegIFN+RBV) and 111 without (HCV-1a/1b/1g/2/3/4=58/83/1/6/24/25; 56.8% treatment experienced; 65.5% cirrhotic) were observed. Sanger sequencing of NS3/NS5A/NS5B was performed by home-made protocols, at failure (N= 200) and w…

Male0301 basic medicinehepatitis C virusSustained Virologic ResponseSofosbuvirHepacivirusDrug ResistanceHepacivirusresistance-associated substitutionsViral Nonstructural ProteinsVARIANTSNS5Amedicine.disease_causeGastroenterologychemistry.chemical_compound0302 clinical medicineRecurrenceINFECTIONantiviral therapyMedicinehepatitis C viruViralTreatment FailureChronicantiviral therapy; direct-acting antivirals; hepatitis C virus; resistance test; resistance-associated substitutions; hepatologybiologyGENOTYPE 1virus diseasesMiddle Agedantiviral therapy; direct-acting antivirals; hepatitis C virus; resistance test; resistance-associated substitutionsSettore MED/07 - Microbiologia e Microbiologia ClinicaHepatitis CItalyCombinationInterferonDrug Therapy CombinationFemale030211 gastroenterology & hepatologyAuthor Keywords:antiviral therapyRIBAVIRINSequence AnalysisHumanmedicine.drugmedicine.medical_specialtyDaclatasvirGenotypeHepatitis C virusAntiviral AgentsLONG-TERM PERSISTENCEDACLATASVIR03 medical and health sciencesDrug Therapyantiviral therapy; direct-acting antivirals; hepatitis C virus; resistance test; resistance-associated substitutions; Aged; Antiviral Agents; Drug Resistance Viral; Drug Therapy Combination; Female; Genotype; Hepacivirus; Hepatitis C Chronic; Humans; Interferons; Italy; Male; Middle Aged; Mutation; Recurrence; Ribavirin; Sequence Analysis DNA; Sofosbuvir; Sustained Virologic Response; Treatment Failure; Viral Nonstructural Proteins; HepatologyTREATMENT-NAIVEInternal medicineDrug Resistance ViralRibavirinHumansNS5Aresistance testdirect-acting antiviralsAgedAntiviral Agentresistance-associated substitutiondirect-acting antiviralHepaciviruHepatologyresistance test KeyWords Plus:HEPATITIS-C VIRUSbusiness.industryRibavirinViral Nonstructural ProteinSequence Analysis DNADNAHepatitis C ChronicHepatologybiology.organism_classificationClinical trial030104 developmental biologySOFOSBUVIRchemistrySequence AnalysihepatologyMutationImmunologyInterferonsSofosbuvirbusiness
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Direct-acting antivirals after successful treatment of early hepatocellular carcinoma improve survival in HCV-cirrhotic patients

2019

Background & Aims: The effectiveness of direct-acting antivirals (DAAs) against hepatitis C virus (HCV), following successful treatment of early hepatocellular carcinoma (HCC), has been studied extensively. However, the benefit in terms of overall survival (OS) remains to be conclusively demonstrated. The aim of this study was to assess the impact of DAAs on OS, HCC recurrence, and hepatic decompensation. Methods: We prospectively enrolled 163 consecutive patients with HCV-related cirrhosis and a first diagnosis of early Barcelona Clinic Liver Cancer stage 0/A HCC, who had achieved a complete radiologic response after curative resection or ablation and were subsequently treated with DAA…

Male0301 basic medicinemedicine.medical_specialtySurvival rateCarcinoma HepatocellularCirrhosisSustained Virologic ResponsePrognosiHepatitis C virus (HCV) Hepatocellular carcinoma (HCC) Direct-acting antiviral (DAA) Overall survival Prognosis Survival rate Liver cirrhosisHepacivirusAntiviral AgentsGastroenterologyLiver cirrhosi03 medical and health sciences0302 clinical medicineInternal medicinemedicineHumansEarly Hepatocellular CarcinomaOverall survivalProspective StudiesHepatocellular carcinoma (HCC)Propensity ScoreSurvival rateAgedAged 80 and overHepatologybusiness.industryLiver NeoplasmsHazard ratioDirect-acting antiviral (DAA)Hepatitis CHepatitis C virus (HCV)Middle Agedmedicine.diseasePrognosisHepatitis CDirect-acting antiviral (DAA); Hepatitis C virus (HCV); Hepatocellular carcinoma (HCC); Liver cirrhosis; Overall survival; Prognosis; Survival rate030104 developmental biologyHepatocellular carcinomaLiver cirrhosisFemale030211 gastroenterology & hepatologyNeoplasm Recurrence LocalLiver cancerbusinessViral hepatitisFollow-Up Studies
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