Search results for "Center"

showing 10 items of 1724 documents

A multicenter study benchmarks software tools for label-free proteome quantification

2016

The consistent and accurate quantification of proteins by mass spectrometry (MS)-based proteomics depends on the performance of instruments, acquisition methods and data analysis software. In collaboration with the software developers, we evaluated OpenSWATH, SWATH2.0, Skyline, Spectronaut and DIA-Umpire, five of the most widely used software methods for processing data from SWATH-MS (sequential window acquisition of all theoretical fragment ion spectra), a method that uses data-independent acquisition (DIA) for label-free protein quantification. We analyzed high-complexity test datasets from hybrid proteome samples of defined quantitative composition acquired on two different MS instrument…

0301 basic medicineInternationalityProteomeComputer sciencemedia_common.quotation_subjectSoftware toolQuantitative proteomicsBiomedical EngineeringBioengineeringcomputer.software_genreBioinformaticsSensitivity and SpecificityApplied Microbiology and BiotechnologyArticleMass Spectrometry03 medical and health sciencesSoftwareQuality (business)media_commonLabel freeStaining and Labeling030102 biochemistry & molecular biologybusiness.industryReproducibility of ResultsBenchmarkingComputingMethodologies_PATTERNRECOGNITION030104 developmental biologyMulticenter studyProteomeBenchmark (computing)Molecular MedicineData miningbusinesscomputerAlgorithmsSoftwareBiotechnologyNature Biotechnology
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Renin-Angiotensin System Inhibitors, Type 2 Diabetes and Fibrosis Progression: An Observational Study in Patients with Nonalcoholic Fatty Liver Disea…

2016

Background The clinical determinants of fibrosis progression in nonalcoholic fatty liver disease (NAFLD) are still under definition. Aim To assess the clinical determinants of fibrosis progression rate (FPR) in NAFLD patients with baseline and follow-up histological evaluation, with a special focus on the impact of pharmacological therapy. Methods In an observational cohort of 118 Italian patients from tertiary referral centers, liver histology was evaluated according to Kleiner. Independent predictors of FPR were selected by a stepwise regression approach. Results Median follow-up was 36 months (IQR 24–77). Twenty-five patients (18%) showed some amelioration, 63 (53%) had stability, 30 (25…

0301 basic medicineLiver CirrhosisMalePeptide HormonesBiopsyTertiary Care Centerlcsh:MedicineBlood PressureAngiotensin-Converting Enzyme InhibitorsType 2 diabetesGastroenterologyVascular MedicineBiochemistryRenin-Angiotensin SystemTertiary Care Centers0302 clinical medicineFibrosisRetrospective StudieNon-alcoholic Fatty Liver DiseaseNonalcoholic fatty liver diseaseMedicine and Health SciencesEthnicitieslcsh:ScienceDiureticsMultidisciplinarymedicine.diagnostic_testMedicine (all)Liver DiseasesFatty liverAngiotensin Receptor AntagonistMiddle AgedPrognosisMetforminMetforminItalian PeopleItalyLiverHypertensionDisease Progression030211 gastroenterology & hepatologyFemaleAnatomymedicine.drugHumanResearch ArticleAdultmedicine.medical_specialtyHistologyPrognosiLiver CirrhosiAdrenergic beta-AntagonistsSurgical and Invasive Medical ProceduresGastroenterology and HepatologyFollow-Up Studie03 medical and health sciencesAngiotensin Receptor AntagonistsInternal medicineDiabetes mellitusBiopsymedicineDiureticHumansRetrospective StudiesBiochemistry Genetics and Molecular Biology (all)business.industrylcsh:RAdrenergic beta-Antagonistnutritional and metabolic diseasesBiology and Life SciencesRetrospective cohort studyAngiotensin-Converting Enzyme Inhibitormedicine.diseaseFibrosisHormonesFatty Liver030104 developmental biologyEndocrinologyAgricultural and Biological Sciences (all)Diabetes Mellitus Type 2People and Placeslcsh:QPopulation GroupingsHydroxymethylglutaryl-CoA Reductase InhibitorHydroxymethylglutaryl-CoA Reductase InhibitorsbusinessDevelopmental BiologyFollow-Up StudiesPLoS ONE
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Biallelic variants in LARS2 and KARS cause deafness and (ovario)leukodystrophy

2019

Supplemental Digital Content is available in the text.

0301 basic medicineLysine-tRNA LigaseMalePathologyMagnetic Resonance SpectroscopyMedizinmembrane proteins030204 cardiovascular system & hematologyMitochondrionDeafnessmedicine.disease_causeCompound heterozygosityCorrectionsLeukoencephalopathyMyelin0302 clinical medicineCytosolLeukoencephalopathies030212 general & internal medicineOvarian DiseasesTransfer RNA AminoacylationChildZebrafishMUTATIONExome sequencing10012MutationBrainMetabolic Disorders Radboud Institute for Molecular Life Sciences [Radboudumc 6]General MedicineMiddle AgedDisorders of movement Donders Center for Medical Neuroscience [Radboudumc 3]Magnetic Resonance ImagingMitochondriaProtein Transportendoplasmic reticulummedicine.anatomical_structureChild PreschoolTransfer RNAComputingMethodologies_DOCUMENTANDTEXTPROCESSING/dk/atira/pure/sustainabledevelopmentgoals/good_health_and_well_being[SDV.NEU]Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC]Biological AssayFemaleWRBRare cancers Radboud Institute for Health Sciences [Radboudumc 9]Adultcardiomyopathiesmedicine.medical_specialtyMitochondrial diseaseAminoacylationMuscle disorderBiologyArticleMEDIATES INSERTIONAmino Acyl-tRNA Synthetases03 medical and health sciencesSDG 3 - Good Health and Well-beingmedicineAnimalsPoint MutationHumansAmino Acid SequenceAlleleAllelesCOMPLEXGenetic heterogeneitybusiness.industryArsenite Transporting ATPasesLeukodystrophyGenetic Variation10090Original ArticlesZebrafish Proteinsbiology.organism_classificationDILATED CARDIOMYOPATHYmedicine.diseasezebrafishGENEMolecular biologyDisease Models Animal030104 developmental biologyMembrane protein[SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics10084Neurology (clinical)Transfer RNA AminoacylationMEMBRANEbusinessSequence Alignment030217 neurology & neurosurgeryexomeNeurology
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Six year adalimumab efficacy in steroid-dependent Crohn's disease patients: A prospective single-center real life study.

2016

Abstract Background Adalimumab is effective in the treatment of Crohn's disease. We have already reported data on the efficacy of adalimumab in 110 steroid-dependent patients. At the end of the study 90 patients (64.5%) maintained clinical remission. Aims To assess efficacy and safety of adalimumab after 6 years in patients of the original cohort who responded to treatment. Methods The present study is an extension of the published paper on 90/110 patients. We report results on clinical remission and safety of 6 year maintenance therapy with adalimumab. Results Of the original cohort 90 patients completed the study, 17 were lost to follow-up and 3 died. At the end of follow-up (74.16 ± 10.3…

0301 basic medicineMaleAnti-Inflammatory AgentsKaplan-Meier EstimateSingle CenterInflammatory bowel diseaseInflammatory bowel disease0302 clinical medicineMaintenance therapyCrohn DiseaseLong term therapyProspective Studiesskin and connective tissue diseasesProspective cohort studyMultivariate AnalysiCrohn's diseaseRemission InductionGastroenterologyMiddle AgedCrohn's diseaseAnti-Inflammatory AgentTreatment OutcomeItalyCohort030211 gastroenterology & hepatologyFemaleSteroidsHumanmedicine.drugmusculoskeletal diseasesAdultmedicine.medical_specialtySteroid dependencyMaintenance Chemotherapy03 medical and health sciencesInternal medicinemedicineAdalimumabHumansAdverse effectSteroidHepatologybusiness.industryAdalimumabmedicine.diseaseSurgeryProspective Studie030104 developmental biologyMultivariate AnalysisbusinessDigestive and liver disease : official journal of the Italian Society of Gastroenterology and the Italian Association for the Study of the Liver
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Germinal Centers Determine the Prognostic Relevance of Tertiary Lymphoid Structures and Are Impaired by Corticosteroids in Lung Squamous Cell Carcino…

2018

Abstract In solid tumors, the presence of lymph node–like structures called tertiary lymphoid structures (TLS) is associated with improved patient survival. However, little is known about how TLS develop in cancer, how their function affects survival, and whether they are affected by cancer therapy. In this study, we used multispectral microscopy, quantitative pathology, and gene expression profiling to analyze TLS formation in human lung squamous cell carcinoma (LSCC) and in an experimental model of lung TLS induction. We identified a niche of CXCL13+ perivascular and CXCL12+LTB+ and PD-L1+ epithelial cells supporting TLS formation. We also characterized sequential stages of TLS maturation…

0301 basic medicineMaleCancer ResearchLung Neoplasmsmedicine.medical_treatmentApoptosis03 medical and health sciencesMiceLymphocytes Tumor-InfiltratingAdrenal Cortex HormonesCarcinoma Non-Small-Cell LungAntineoplastic Combined Chemotherapy ProtocolsCarcinomaTumor Cells CulturedTumor MicroenvironmentMedicineAnimalsHumansCXCL13Lung cancerSurvival rateAgedCell ProliferationChemotherapyTumor microenvironmentbusiness.industryGene Expression ProfilingCancerGerminal centerMiddle Agedmedicine.diseaseGerminal CenterPrognosisXenograft Model Antitumor Assays3. Good healthMice Inbred C57BLSurvival Rate030104 developmental biologyTertiary Lymphoid StructuresOncologyCancer researchCarcinoma Squamous CellFemalebusinessFollow-Up StudiesCancer research
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Seroprevalence of SARs-CoV-2 among the staff and patients of a French cancer centre after first lockdown: the canSEROcov study

2021

Abstract Background In view of the potential gravity of severe acute respiratory syndrome coronavirus-2 (SARS-CoV-2) infection for patients with cancer, epidemiological data are vital to assess virus circulation among patients and staff of cancer centres. We performed a prospective study to investigate seroprevalence of SARS-CoV-2 antibodies among staff and patients with cancer at a large cancer centre, at the end of the period of first national lockdown in France and to determine factors associated with the risk of SARS-CoV-2 infection. Methods After the first lockdown, all medical and non-medical staff, as well as all patients attending the medical oncology department were invited to unde…

0301 basic medicineMaleCancer ResearchSerology0302 clinical medicineHygieneSeroepidemiologic StudiesEpidemiologyMedicineProspective cohort studyChildmedia_commonOriginal ResearchAged 80 and overserodiagnosisseroprevalenceSocial distanceMiddle AgedSerologyOncology030220 oncology & carcinogenesisChild PreschoolCarrier StateFemaleFrancemedicine.symptomAdultmedicine.medical_specialtyAdolescentmedia_common.quotation_subjectHealth PersonnelSARS-COV-2Cancer Care FacilitiesAsymptomaticCOVID-19 Serological Testingstaff03 medical and health sciencesYoung AdultSeroprevalenceHumansAntibodyAgedbusiness.industryhealthcare workersCancerCOVID-19cancer centerCancer patientsmedicine.diseasePersonnel Hospital030104 developmental biologyFamily medicinebusinessEuropean Journal of Cancer
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Follicular dendritic cells display microvesicle-associated LMP1 in reactive germinal centers of EBV+ classic Hodgkin lymphoma

2018

Expression of the latent membrane protein-1 (LMP1) of Epstein-Barr virus (EBV) was investigated in 153 cases of EBV+ classic Hodgkin lymphoma (cHL); 120 cases were pediatric patients (< 14 years of age) from Iraq, and 33 cases were adult patients from Italy. We describe for the first time the presence of LMP1 protein in EBV-encoded RNA (EBER)-negative follicular dendritic cells (FDCs) of reactive germinal centers (GC) associated with EBV+ cHL. Presence of LMP1+ GCs was independent of geographic region and age of patients. Variable numbers of reactive GCs were present in 22.2% of cases (34 of 153), whereas LMP1 staining of FDCs was present in about a third of cases (10 of 34) with reactiv…

0301 basic medicineMaleEpstein-Barr Virus InfectionsClassic Hodgkin lymphoma (cHL)CD30Follicular dendritic cells (FDCs)Exosomes and&nbsp0302 clinical medicineclassic hodgkin lymphoma (chl); epstein-barr virus (ebv); exosomes and microvesicles; follicular dendritic cells (fdcs); latent membrane protein-1 (lmp1); programmed death ligand 1 (pd-l1)Nodular sclerosisCell-Derived MicroparticlesEpstein-Barr Virus Infectionhemic and lymphatic diseasesChildCD63MicrovesicleGeneral MedicineMiddle AgedHodgkin DiseaseEpstein-Barr virus (EBV)Cell-Derived Microparticle030220 oncology & carcinogenesisProgrammed death ligand 1 (PD-L1)microvesicleOriginal ArticleFemaleHumanAdultBiologyVirusPathology and Forensic MedicineViral Matrix Proteins03 medical and health sciencesExosomes and microvesiclesmedicineotorhinolaryngologic diseasesHumansMolecular BiologyEpstein–Barr virus infectionAgedFollicular dendritic cellsGerminal centerCell Biologymedicine.diseaseGerminal CenterMolecular biologystomatognathic diseases030104 developmental biologyLatent membrane protein-1 (LMP1)Dendritic Cells Follicular
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Benign nocturnal alternating hemiplegia of childhood

2018

Objective: To describe the clinical spectrum of benign nocturnal alternating hemiplegia of childhood (BNAHC) including long-term follow-up data of previously published cases and to propose an underlying genetic cause of this disorder. Methods: We studied the medical data of two novel patients, reviewed the literature on BNAHC, and gathered information of the most recent follow-up of published cases regarding the course of episodes, further development, attempted drugs, ancillary investigations, and sequelae. Results: All patients, i.e. two novel cases and twelve patients identified in the literature (13 boys, 1 girl, age at onset four months to three years), experienced episodes of hemipleg…

0301 basic medicineMaleExome sequencingPediatricsmedicine.medical_specialtyHeterozygoteHemiplegiaNerve Tissue ProteinsPATIENTSensory disorders Donders Center for Medical Neuroscience [Radboudumc 12]03 medical and health sciences0302 clinical medicinePRRT2 MUTATIONSmedicineHumansIctalPAROXYSMAL KINESIGENIC DYSKINESIAFamily historyPRRT2 geneExome sequencingCryingbusiness.industryAlternating hemiplegia of childhoodInfantMembrane ProteinsGeneral MedicineParoxysmal dyskinesiamedicine.diseaseDisorders of movement Donders Center for Medical Neuroscience [Radboudumc 3]GENESleep deprivation030104 developmental biologyPhenotypeTreatment OutcomeSYNAPTIC-TRANSMISSIONMigraineMIGRAINEChild PreschoolPediatrics Perinatology and Child HealthDisease ProgressionNeurology (clinical)medicine.symptombusinessINFANTILE CONVULSIONS030217 neurology & neurosurgeryGene DeletionBenign nocturnal alternating hemiplegia of childhoodEuropean Journal of Paediatric Neurology
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New insights into the genetics of primary open-angle glaucoma based on meta-analyses of intraocular pressure and optic disc characteristics

2017

Item does not contain fulltext Primary open-angle glaucoma (POAG), the most common optic neuropathy, is a heritable disease. Siblings of POAG cases have a ten-fold increased risk of developing the disease. Intraocular pressure (IOP) and optic nerve head characteristics are used clinically to predict POAG risk. We conducted a genome-wide association meta-analysis of IOP and optic disc parameters and validated our findings in multiple sets of POAG cases and controls. Using imputation to the 1000 genomes (1000G) reference set, we identified 9 new genomic regions associated with vertical cup-disc ratio (VCDR) and 1 new region associated with IOP. Additionally, we found 5 novel loci for optic ne…

0301 basic medicineMaleIntraocular pressuregenetic structuresOptic diskGlaucomaPROTEINGenome-wide association studyIDENTIFIES 5Sensory disorders Donders Center for Medical Neuroscience [Radboudumc 12]Optic neuropathyOptic Nerve DiseasesPROSTATEGenetics (clinical)RISKAssociation Studies ArticlesCOMMON VARIANTSGeneral MedicineMiddle AgedCANCER3. Good healthmedicine.anatomical_structureOptic nerveFemaleGlaucoma Open-AngleOptic discCyclin-Dependent Kinase Inhibitor p21medicine.medical_specialtyOpen angle glaucomaSUSCEPTIBILITY LOCIOptic Disk610 Medicine & healthBiology03 medical and health sciencesTonometry OcularOphthalmologyGeneticsmedicineHumansGENOME-WIDE ASSOCIATIONMolecular BiologyIntraocular PressureHomeodomain ProteinsP53Genome HumanPOPULATION-BASED EPIDEMIOLOGYZebrafish Proteinsmedicine.diseaseeye diseases030104 developmental biologysense organsGenome-Wide Association StudyHuman Molecular Genetics
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De Novo and Inherited Pathogenic Variants in KDM3B Cause Intellectual Disability, Short Stature, and Facial Dysmorphism

2019

Contains fulltext : 202646.pdf (Publisher’s version ) (Open Access) By using exome sequencing and a gene matching approach, we identified de novo and inherited pathogenic variants in KDM3B in 14 unrelated individuals and three affected parents with varying degrees of intellectual disability (ID) or developmental delay (DD) and short stature. The individuals share additional phenotypic features that include feeding difficulties in infancy, joint hypermobility, and characteristic facial features such as a wide mouth, a pointed chin, long ears, and a low columella. Notably, two individuals developed cancer, acute myeloid leukemia and Hodgkin lymphoma, in childhood. KDM3B encodes for a histone …

0301 basic medicineMaleJumonji Domain-Containing Histone DemethylasesDevelopmental DisabilitiesWEAVER SYNDROMEPROTEINHaploinsufficiencyCraniofacial AbnormalitiesHistones0302 clinical medicineIntellectual disabilityTumours of the digestive tract Radboud Institute for Molecular Life Sciences [Radboudumc 14]Missense mutationDEMETHYLASE KDM3BExomeChildGenetics (clinical)Exome sequencingGeneticsRUBINSTEIN-TAYBI SYNDROMEMetabolic Disorders Radboud Institute for Molecular Life Sciences [Radboudumc 6]Phenotype030220 oncology & carcinogenesisFemalemedicine.symptomHaploinsufficiencyRare cancers Radboud Institute for Health Sciences [Radboudumc 9]Joint hypermobilityGENETICSJMJD1CMutation MissenseDwarfismBiologyShort statureKdm3b ; Cancer Predisposition ; Developmental Delay ; Facial Recognition ; Intellectual Disability ; Leukemia ; Lymphoma ; Short Stature03 medical and health sciencesReportIntellectual DisabilitymedicineHumansMYELOID-LEUKEMIAGenetic Association StudiesGerm-Line MutationWeaver syndromeNeurodevelopmental disorders Donders Center for Medical Neuroscience [Radboudumc 7]Rubinstein–Taybi syndromeMUTATIONSDELETIONGenetic Variationmedicine.diseaseBody HeightMusculoskeletal AbnormalitiesINDIVIDUALS030104 developmental biologyFaceNanomedicine Radboud Institute for Molecular Life Sciences [Radboudumc 19]American Journal of Human Genetics
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