Search results for "Education"

showing 10 items of 26766 documents

Exome-wide somatic mutation characterization of small bowel adenocarcinoma

2018

Small bowel adenocarcinoma (SBA) is an aggressive disease with limited treatment options. Despite previous studies, its molecular genetic background has remained somewhat elusive. To comprehensively characterize the mutational landscape of this tumor type, and to identify possible targets of treatment, we conducted the first large exome sequencing study on a population-based set of SBA samples from all three small bowel segments. Archival tissue from 106 primary tumors with appropriate clinical information were available for exome sequencing from a patient series consisting of a majority of confirmed SBA cases diagnosed in Finland between the years 2003–2011. Paired-end exome sequencing was…

0301 basic medicineMaleCancer ResearchMICROSATELLITE INSTABILITYColorectal canceroncogenesReceptor ErbB-2medicine.disease_causeCOLORECTAL-CANCERACTIVATIONCohort Studies0302 clinical medicineAnimal CellsAdenocarcinomasMedicine and Health SciencesExomeFrameshift MutationExomeGenetics (clinical)Exome sequencingAged 80 and overSMALL-INTESTINEeducation.field_of_study1184 Genetics developmental biology physiologyCELIAC-DISEASENonsense MutationMiddle Aged3. Good healthsyöpägeenitOncology030220 oncology & carcinogenesissyöpätauditFemaleSIGNALING PATHWAYKRASCellular TypesResearch ArticleAdultProto-Oncogene Proteins B-raflcsh:QH426-470SEQUENCING DATAImmune CellsNonsense mutationPopulationImmunologyAntigen-Presenting CellsComputational biologysuolistosyövätBiologyAdenocarcinomata3111CarcinomasFrameshift mutation03 medical and health sciencesGermline mutationQUALITY-CONTROLGenetiikka kehitysbiologia fysiologia - Genetics developmental biology physiologySyöpätaudit - CancersIntestinal NeoplasmsmedicineGeneticsPoint MutationHumanseducationMolecular BiologyEcology Evolution Behavior and SystematicsAgedColorectal CancerBiology and Life SciencesCancers and Neoplasmscancerous diseasesCell Biologymedicine.diseaseta3122mutationsCOMPREHENSIVE MOLECULAR CHARACTERIZATIONlcsh:Genetics030104 developmental biologyMutationSomatic Mutationbowel cancer3111 BiomedicinemutaatiotHIGH-RESOLUTIONPLoS Genetics
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Dairy product consumption and risk of colorectal cancer in an older mediterranean population at high cardiovascular risk.

2018

Prospective studies have reported an inverse association between the consumption of total dairy products and milk and the risk of colorectal cancer (CRC). Nonetheless, there is little and inconsistent evidence regarding subtypes of dairy product and CRC risk. We assessed the associations between the consumption of total dairy products, their different subtypes and CRC risk in older Mediterranean individuals at high cardiovascular risk. We analyzed data from 7,216 men and women (55-80 years) without CRC at baseline from the PREvencion con DIeta MEDiterranea study. Individuals were recruited between 2003 and 2009 and followed up until December 2012. At baseline and yearly thereafter, consumpt…

0301 basic medicineMaleCancer ResearchMediterranean dietColorectal cancerPopulationcolorectal cancer03 medical and health sciences0302 clinical medicineInterquartile rangeRisk FactorsEnvironmental healthMedicineHumansProspective StudieseducationProspective cohort studyAgedAged 80 and overeducation.field_of_studymilk030109 nutrition & dieteticsProportional hazards modelbusiness.industrydairy productsMediterranean RegionIncidence (epidemiology)IncidencePREDIMED studymediterranean dietMiddle Agedmedicine.diseasePrognosisConfidence intervalOncologyCardiovascular Diseases030220 oncology & carcinogenesisCase-Control StudiesFemaleDairy ProductsbusinessColorectal NeoplasmsFollow-Up StudiesInternational journal of cancer
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Geographical variability in survival of European children with central nervous system tumours

2017

Survival for childhood central nervous system (CNS) tumours varies across Europe, partly because of the difficulty of distinguishing malignant from non-malignant disease. This study examines bias in CNS tumours survival analysis to obtain the reliable and comparable survival figures. We analysed survival data for about 15, 000 children (age <15) diagnosed with CNS between 2000 and 2007, from 71 population- based cancer registries in 27 countries. We selected high- quality data based on registry- specific data quality indicators and recorded observed 1-year and 5-year survival by countries and CNS entity. We provided age- adjusted survival and used a Cox model to calculate the hazard ratios …

0301 basic medicineMaleCancer ResearchPediatricsmedicine.medical_specialtyChildhood cancer survival Europe Population-based cancer registries Disparities Central nervous systemAdolescentPopulationPopulation-based cancer registrieSocio-culturaleDisparitiesCentral Nervous System Neoplasms03 medical and health sciences0302 clinical medicineEpidemiology of cancerChildhood cancer survivalMedicineHumansPreschooleducationChildGrading (tumors)Survival rateSurvival analysiseducation.field_of_studybusiness.industryProportional hazards modelIncidenceHazard ratioCentral Nervous System NeoplasmInfantPopulation-based cancer registriesDisparitieSurvival AnalysisEurope030104 developmental biologyOncologyCentral nervous system030220 oncology & carcinogenesisChild PreschoolFemaleDeath certificateCentral nervous system; Childhood cancer survival; Disparities; Europe; Population-based cancer registries; Adolescent; Central Nervous System Neoplasms; Child; Child Preschool; Europe; Female; Humans; Incidence; Infant; Male; Survival Analysis; Oncology; Cancer ResearchbusinessHuman
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Intratumoral immunosuppression profiles in 11q-deleted neuroblastomas provide new potential therapeutic targets

2021

In this issue, Coronado et al. attempt to improve our understanding of the factors affecting the response to immunotherapy in a large subset of high‐risk neuroblastoma with hemizygous deletion of chromosome 11q. By using several computational approaches, the authors study potential transcriptional and post‐transcriptional pathways that may affect the response to immunotherapy and further be leveraged therapeutically in a biomarker‐directed fashion.

0301 basic medicineMaleCancer Researchmedicine.medical_treatmentRetinoic acidchemistry.chemical_compoundNeuroblastoma0302 clinical medicineTumor Microenvironment11q deletion anti-GD2 immunotherapy combination immunotherapy immune cell infiltration miRNAs neuroblastomaMedicineeducation.field_of_studyimmune cell infiltration11q deletionImmunosuppressionGeneral Medicinelcsh:Neoplasms. Tumors. Oncology. Including cancer and carcinogensPatologiaNeoplasm ProteinsmicroRNAsSurvival Rateanti‐GD2 therapyOncology030220 oncology & carcinogenesiscombination immunotherapymiRNAsMolecular Medicineimmune checkpoint inhibitionFemaleImmunotherapyChromosome Deletionanti‐GD2 immunotherapyPopulationlcsh:RC254-282Disease-Free Survival03 medical and health sciencesImmune systemNeuroblastomaGeneticsImmune ToleranceHumanseducationRetrospective Studiesbusiness.industryChromosomes Human Pair 11Immunotherapymedicine.diseaseImmune checkpointBlockade030104 developmental biologychemistryCancer researchCommentarybusiness
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CD16+ Macrophages Mediate Fibrosis in Inflammatory Bowel Disease.

2017

Background and Aims Fibrosis is a common complication of Crohn's disease [CD], and is related to dysregulated tissular repair following inflammation, in which macrophages play a central role. We have previously observed that STAT6-/- mice present delayed mucosal recovery after 2,4,6-trinitrobenzenesulfonic acid [TNBS]-induced colitis due to a deficiency in reparatory interleukin-4 [IL4]/STAT6-dependent M2 macrophages, which can be reverted by the exogenous transfer of this cell type. In the present study, we analyse the role of STAT6-dependent macrophages in intestinal fibrosis. Methods Colitis was induced by weekly intra-rectal administration of TNBS [6 weeks] to STAT6-/- mice and wild-typ…

0301 basic medicineMaleCell CountInflammatory bowel diseaseMiceCrohn DiseaseFibrosisMacrophageIntestinal MucosaCells CulturedMice Knockouteducation.field_of_studyMice Inbred BALB Cintegumentary systemGastroenterologyGeneral MedicineColitisColonic NeoplasmsFemalemedicine.symptomMannose ReceptorAdultAdolescentColonPopulationInflammationReceptors Cell SurfaceCD1603 medical and health sciencesYoung AdultProto-Oncogene Proteinsparasitic diseasesmedicineAnimalsHumansLectins C-TypeColitiseducationInterleukin 4business.industryMacrophagesReceptors IgGmedicine.diseaseFibrosisWnt Proteins030104 developmental biologyMannose-Binding LectinsTrinitrobenzenesulfonic AcidImmunologyInterleukin-4businessSTAT6 Transcription FactorJournal of Crohn'scolitis
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Genome-wide association study of non-alcoholic fatty liver and steatohepatitis in a histologically characterised cohort☆

2020

Background &amp; Aims: Genetic factors associated with nonalcoholic fatty liver disease (NAFLD) remain incompletely understood. To date, most genome-wide association studies (GWASs) have adopted radiologically assessed hepatic triglyceride content as the reference phenotype and so cannot address steatohepatitis or fibrosis. We describe a GWAS encompassing the full spectrum of histologically characterised NAFLD. Methods: The GWAS involved 1,483 European NAFLD cases and 17,781 genetically matched controls. A replication cohort of 559 NAFLD cases and 945 controls was genotyped to confirm signals showing genome-wide or close to genome-wide significance. Results: Case-control analysis identified…

0301 basic medicineMaleCirrhosis17-Hydroxysteroid DehydrogenasesFibrosiVARIANTLOCIPROGRESSIONGenome-wide association studyDiseaseBioinformaticsDISEASECohort Studies0302 clinical medicineNon-alcoholic Fatty Liver DiseaseRisk FactorsGWASINCREASED RISKCONFERS SUSCEPTIBILITYeducation.field_of_studyFatty liverNASHMiddle Aged3. Good healthNAFLD; NASH; Fibrosis; GWAS; PNPLA3; TM6SF2; GCKR; HSD17B13; SNPPhenotypeLiver030211 gastroenterology & hepatologyFemaleLife Sciences & BiomedicineGCKRAdultPopulationSNP610 Medicine & healthGastroenterology and HepatologyPolymorphism Single NucleotideTM6SF2HSD17B1303 medical and health sciencesNAFLDmedicineGastroenterologiHumansGenetic Predisposition to DiseaseeducationPNPLA3Adaptor Proteins Signal TransducingScience & TechnologyGastroenterology & HepatologyHepatologybusiness.industrynutritional and metabolic diseasesMembrane ProteinsLipasemedicine.diseaseFibrosisPOLYMORPHISMLEPTIN RECEPTOR GENE030104 developmental biology3121 General medicine internal medicine and other clinical medicineCase-Control StudiesHuman medicineSteatosisSteatohepatitisbusinessTM6SF2Genome-Wide Association StudyJournal of Hepatology
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Genetic Variation in HSD17B13 Reduces the Risk of Developing Cirrhosis and Hepatocellular Carcinoma in Alcohol Misusers.

2020

Background and aims Carriage of rs738409:G in patatin-like phospholipase domain containing 3 (PNPLA3) is associated with an increased risk for developing alcohol-related cirrhosis and hepatocellular carcinoma (HCC). Recently, rs72613567:TA in hydroxysteroid 17-beta dehydrogenase 13 (HSD17B13) was shown to be associated with a reduced risk for developing alcohol-related liver disease and to attenuate the risk associated with carriage of PNPLA3 rs738409:G. This study explores the risk associations between these two genetic variants and the development of alcohol-related cirrhosis and HCC. Approach and results Variants in HSD17B13 and PNPLA3 were genotyped in 6,171 participants, including 1,03…

0301 basic medicineMaleCirrhosis17-Hydroxysteroid DehydrogenasesVARIANTPROGRESSIONGastroenterologyCohort StudiesLiver disease0302 clinical medicineSNP RS738409G ALLELEDEPENDENCELiver Cirrhosis Alcoholic600 Technology610 Medicine &amp; healthAged 80 and overeducation.field_of_studyFramingham Risk ScoreLiver NeoplasmsASSOCIATIONlipotoxicityMiddle AgedAlcoholism1101 Medical Biochemistry and Metabolomics1107 ImmunologyHepatocellular carcinomaadiponutrin030211 gastroenterology & hepatologyFemalecandidate genesLife Sciences & Biomedicinemedicine.medical_specialtyCarcinoma HepatocellularPopulation610 Medicine & healthLower riskRisk Assessment03 medical and health sciencesLIVER-DISEASEInternal medicinemedicinegenetic risk associationHumansAdiponutrineducationPNPLA3METAANALYSISAgedDISEASE-ASSOCIATED MORTALITYScience & TechnologyHepatologyGastroenterology & Hepatologybusiness.industryfibrosisGenetic Variation1103 Clinical SciencesOdds ratiomedicine.disease030104 developmental biologyhost geneticsbusinessgenetic susceptibility
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Characteristic of chronic plaque psoriasis patients treated with biologics in Italy during the COVID-19 pandemic. risk analysis from the PSO-BIO-COVI…

2021

Background The susceptibility of patients with chronic plaque psoriasis and the risks or benefits related to the use of biological therapies for COVID-19 are unknown. Few data about prevalence, clinical course and outcomes of COVID-19 among psoriatic patients were reported. The aims of this study were 1) to assess the prevalence and severity of COVID-19 in psoriatic patients treated with biologic agents during the first phase of the emergency (22 February to 22 April 2020) in Italy, and 2) to report the clinical outcomes of patients who have been exposed to individuals with confirmed SARS-CoV-2 infection. Methods Patients with moderate-to-severe chronic plaque psoriasis, aged ≥18 years and …

0301 basic medicineMaleClinical BiochemistryDiseaseCohort Studies0302 clinical medicineDrug DiscoveryReceptors80 and overMedicineAged 80 and overeducation.field_of_studyIncidence (epidemiology)IncidenceInterleukin-17psoriasisMiddle Ageddermatologysars-CoV-2Italybiological therapy030220 oncology & carcinogenesisCohortBiological ProductCOVID-19; biological therapy; dermatology; psoriasis; sars-CoV-2FemaleSettore MED/35 - MALATTIE CUTANEE E VENEREEbiological therapy; COVID-19; dermatology; psoriasis; sars-CoV-2; Adult; Aged; Aged 80 and over; Biological Products; Biological Therapy; COVID-19; Chronic Disease; Cohort Studies; Female; Humans; Incidence; Interleukin-17; Italy; Male; Middle Aged; Pandemics; Psoriasis; Receptors Interleukin; Risk Assessment; Tumor Necrosis Factor-alpha; Young AdultCohort studyHumanAdultmedicine.medical_specialtyPopulationRisk AssessmentCOVID-19; psoriasis; biological therapy; dermatology; sars-CoV-203 medical and health sciencesYoung AdultSettore MED/35Internal medicinePsoriasisPsoriasis.HumanseducationPandemicsAgedPharmacologyPsoriasiBiological ProductsPandemicbiological therapy; COVID-19; dermatology; psoriasis; sars-CoV-2business.industryTumor Necrosis Factor-alphaCOVID-19Receptors InterleukinBiological productInterleukinmedicine.diseaseClinical trial030104 developmental biologyChronic DiseaseCOVID-19; SARS-CoV-2; biological therapy; dermatology; psoriasisCohort Studiebusiness
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Activation of Corticothalamic Layer 6 Cells Decreases Angular Tuning in Mouse Barrel Cortex.

2019

In the mouse whisker system, the contribution of L6 corticothalamic cells (L6 CT) to cortical and thalamic processing of the whisker deflection direction was investigated. A genetically defined population of L6 CT cells project to infragranular GABAergic interneurons that hyperpolarize neurons in somatosensory barrel cortex (BC). Optogenetic activation of these neurons switched BC to an adapted mode in which excitatory cells lost their angular tuning. In contrast, however, this was not the case with a general activation of inhibitory interneurons via optogenetic activation of Gad2-expressing cells. The decrease in angular tuning, when L6 CT cells were activated, was due to changes in cortic…

0301 basic medicineMaleCognitive NeurosciencePopulationNeuroscience (miscellaneous)OptogeneticsSomatosensory systemInhibitory postsynaptic potentiallcsh:RC321-57103 medical and health sciencesCellular and Molecular NeuroscienceMice0302 clinical medicineThalamusexcitation inhibition balancedirection selectivitymedicineAnimalsGABAergic Neuronseducationlcsh:Neurosciences. Biological psychiatry. NeuropsychiatryOriginal ResearchNeuronseducation.field_of_studyAfferent PathwaysNeocortexGAD2NTSR1ChemistryNeural InhibitionSomatosensory CortexBarrel cortexSensory Systemslayer 6030104 developmental biologymedicine.anatomical_structurenervous systemTouch PerceptionVibrissaeExcitatory postsynaptic potentialGABAergicFemaleNeuroscience030217 neurology & neurosurgeryNeuroscienceFrontiers in neural circuits
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Antibiotic resistance and population structure of cystic fibrosis Pseudomonas aeruginosa isolates from a Spanish multi-centre study

2017

The first Spanish multi-centre study on the microbiology of cystic fibrosis (CF) was conducted from 2013 to 2014. The study involved 24 CF units from 17 hospitals, and recruited 341 patients. The aim of this study was to characterise Pseudomonas aeruginosa isolates, 79 of which were recovered from 75 (22%) patients. The study determined the population structure, antibiotic susceptibility profile and genetic background of the strains. Fifty-five percent of the isolates were multi-drug-resistant, and 16% were extensively drug-resistant. Defective mutS and mutL genes were observed in mutator isolates (15.2%). Considerable genetic diversity was observed by pulsed-field gel electrophoresis (70 p…

0301 basic medicineMaleCystic FibrosisAntibiotic resistanceArray tubeMulti-locus sequence typing (MLST)medicine.disease_causeGenotypePharmacology (medical)ChildGeneticseducation.field_of_studyMolecular EpidemiologyVirulencePseucforrumus aeruginosaGeneral MedicineMiddle AgedMutS DNA Mismatch-Binding ProteinElectrophoresis Gel Pulsed-FieldInfectious DiseasesChild PreschoolPseudomonas aeruginosaFemalemedicine.drugMicrobiology (medical)AdultAdolescentGenotype030106 microbiologyPopulationVirulenceBiologyCystic fibrosisMicrobiology03 medical and health sciencesYoung AdultAntibiotic resistanceDrug Resistance BacterialmedicineHumansPseudomonas InfectionsTypingeducationGenetic diversityPseudomonas aeruginosaGenetic VariationMutL ProteinsSpainColistinMultilocus Sequence Typing
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