Search results for "BN"

showing 10 items of 1136 documents

Correction:Cancer risks by gene, age, and gender in 6350 carriers of pathogenic mismatch repair variants: findings from the Prospective Lynch Syndrom…

2020

Lynch syndrome (LS) results from pathogenic variants in the mismatch repair (MMR) genes and is the most common hereditary cancer syndrome, affecting an estimated 1 in 300 individuals. Pathogenic variants in each of the MMR genes path_MLH1, path_MSH2, path_MSH6, and path_PMS2 result in different risks for cancers in organs including the colorectum, endometrium, ovaries, stomach, small bowel, bile duct, pancreas, and upper urinary tract. Accurate estimates of these risks are essential for planning appropriate approaches to the prevention or early diagnosis of cancers but the robustness of previous studies has been limited by factors including retrospective design,1,2 lack of validation in ind…

OncologyMaleColorectal cancer*Lynch syndromePenetranceDNA Mismatch Repair0302 clinical medicineDatabases GeneticMalalties hereditàriesProspective StudiesCàncer*PMS2Genetics (clinical)Mismatch Repair Endonuclease PMS2Cancer0303 health sciencesSex CharacteristicsFactors de risc en les malalties1184 Genetics developmental biology physiologyMLH1Middle Aged16. Peace & justiceLynch syndrome3. Good healthDNA-Binding ProteinsMutS Homolog 2 Proteinsyöpägeenit*MSH2030220 oncology & carcinogenesis*MSH6030211 gastroenterology & hepatologyDNA mismatch repairFemalegeneettiset tekijätMutL Protein Homolog 1Genetic diseasesAdultmedicine.medical_specialtycongenital hereditary and neonatal diseases and abnormalitiesRisk factors in diseasessuolistosyövätMUTATION CARRIERSMLH1Risk AssessmentArticlesukupuoliAge and gender03 medical and health sciencesInternal medicinemedicineHumansGenetic Predisposition to DiseaseLynchin oireyhtymäGene030304 developmental biologyAgedbusiness.industryEndometrial cancerCorrectionnutritional and metabolic diseasesCancer*MLH1MSH6medicine.diseaseColorectal Neoplasms Hereditary NonpolyposisSurvival Analysisdigestive system diseasesMSH2MSH6Lynch syndromePMS2MSH2Mutation3111 BiomedicineikäbusinessOvarian cancer
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Response Assessment to Cancer Therapy

2021

Cancer generically refers to a group of diseases showing an uncontrolled division of abnormal cells potentially having the ability to invade, through the blood and lymph systems, nearby tissues or spread to other parts of the body.

OncologyResponse assessmentmedicine.medical_specialtybusiness.industryInternal medicinemedicineCancer therapyCancerAbnormal cellLymphmedicine.diseasebusiness
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Cost-effectiveness analysis of the first-line EGFR-TKIs in patients with advanced EGFR-mutated non-small-cell lung cancer.

2021

To evaluate the cost-effectiveness of first-line treatments, such as erlotinib, gefitinib, afatinib, dacomitinib, and osimertinib, for patients diagnosed with stage IIIB/IV NSCLC harboring EGFR mutations.A partitioned survival model was developed to estimate quality-adjusted life-year (QALY) and incremental cost-effectiveness ratio (ICER) from the perspective of the Spanish National Health System. Two Bayesian NMAs were performed independently, by using the polynomial fraction method to fit Kaplan-Meier curves for overall survival and progression-free survival. Deterministic and probabilistic sensitivity analyses were performed to evaluate the uncertainty.The ICER was calculated for the fou…

Oncologycongenital hereditary and neonatal diseases and abnormalitiesmedicine.medical_specialtyLung NeoplasmsCost effectivenessAfatinibCost-Benefit AnalysisAfatinibchemistry.chemical_compoundErlotinib HydrochlorideGefitinibInternal medicineCarcinoma Non-Small-Cell LungmedicineHumansheterocyclic compoundsPharmacology (medical)OsimertinibLung cancerneoplasmsProtein Kinase Inhibitorsbusiness.industryHealth PolicyBayes TheoremGefitinibGeneral MedicineCost-effectiveness analysismedicine.diseaseDacomitinibrespiratory tract diseasesErbB ReceptorschemistryMutationErlotinibbusinessmedicine.drugExpert review of pharmacoeconomicsoutcomes research
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Triple Negative Myelofibrosis and Myelodysplastic Syndrome with Fibrosis: Clinico-Biological Characterization and Correlation with Gene Mutations

2018

Abstract Introduction: Triple negative primary myelofibrosis (TN-PMF) and myelodysplastic syndromes with fibrosis (F-MDS) are rare entities, often difficult to distinguish each other. Currently, no specific molecular markers allowing a precise differential diagnosis are available. In this sense, next generation techniques (NGS) might be useful to distinguish between both entities and to refine prognosis. Methods: Thirty-nine patients with TN-PMF (n=16) or F-MDS (n=23) were analyzed, Targeted NGS was performed in 28 cases (10 TN-PMF and 18 F-MDS) using the Sophia Genetics Myeloid Tumor Solution Panel including the following genes: ABL1, ASXL1, BRAF, CALR, CBL,CEBPA, CSF3R,CSNK1A1,DNMT3A, ETV…

Oncologymedicine.medical_specialtyAcute leukemiaMyeloidbusiness.industryMyelodysplastic syndromesImmunologyCell BiologyHematologyGene mutationmedicine.diseaseBiochemistrymedicine.anatomical_structureInternal medicineCEBPAmedicineChromosome abnormalityHRASMyelofibrosisbusinessBlood
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Evaluation of atezolizumab immunogenicity: Efficacy and safety (Part 2).

2022

Abstract Antibody therapeutics can be associated with unwanted immune responses resulting in the development of anti‐drug antibodies (ADA). Optimal methods to evaluate the potential effects of ADA on clinical outcomes in oncology are not well established. In this study, we assessed efficacy and safety, based on ADA status, in patients from over 10 clinical trials that evaluated the immune checkpoint inhibitor atezolizumab as a single agent or as combination therapy for several types of advanced cancers. ADA can only be observed post randomization, and imbalances in baseline prognostic factors can confound the interpretation of ADA impact. We applied methodology to account for the confoundin…

Oncologymedicine.medical_specialtycongenital hereditary and neonatal diseases and abnormalitiesRandomizationCombination therapyDatabases FactualMEDLINERM1-950Antibodies Monoclonal HumanizedGeneral Biochemistry Genetics and Molecular BiologyArticleAtezolizumabimmune system diseasesInternal medicineNeoplasmsmedicineHumansGeneral Pharmacology Toxicology and PharmaceuticsAdverse effectImmune Checkpoint InhibitorsClinical Trials as Topicbusiness.industryGeneral NeuroscienceImmunogenicityResearchConfoundingnutritional and metabolic diseaseshemic and immune systemsGeneral MedicineArticlesAntibodies Monoclonal Humanized/immunology; Antibodies Monoclonal Humanized/pharmacokinetics; Antibodies Neutralizing/immunology; Antibodies Neutralizing/metabolism; Clinical Trials as Topic; Databases Factual; Humans; Immune Checkpoint Inhibitors/immunology; Immune Checkpoint Inhibitors/pharmacokinetics; Neoplasms/drug therapy; Safety; Treatment OutcomeAntibodies NeutralizingClinical trialenzymes and coenzymes (carbohydrates)Treatment OutcomeTherapeutics. PharmacologyPublic aspects of medicineRA1-1270SafetybusinessClinical and translational science
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The Location of an International Logistics Center in Poland as a Part of the One Belt One Road Initiative

2019

Wstęp: Inicjatywa Jednego Pasa i Drogi otwiera wiele możliwości rozwoju dla krajów Europy Środkowo-Wschodniej. Niektóre z nich są związane z możliwością budowy centrum logistycznego w tym rejonie. Dla Polski taka inwestycja przyniosłaby wiele korzyści, nie tylko z powodu rozwoju infrastruktury, ale także z tytułu przyśpieszenia wzrostu gospodarczego i tworzenia nowych miejsc pracy. W tym kontekście kluczowa staje się rola i lokalizacja takiego centrum logistycznego. Ze względu na nowość zagadnienia, zauważa się znaczny niedobór artykułów naukowych związanych z tą kwestią. Celem naukowym niniejszego artykułu jest wypełnienie istniejącej luki, określenie roli jaką powinno spełniać polskie cen…

One belt One RoadJeden Pas Jedna drogaNew Silk Roadlogistics centerPolandcentrum logistyczneNowy Jedwabny SzlaklokalizacjalocationPolskaLogForum
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Oral, facial, digital, vertebral anomalies with psychomotor delay: a mild form of OFD type Gabrielli?

2002

A girl with oral, facial, and digital anomalies presented at birth with a large cleft palate filled by a nasopharyngeal mass and was found later to have several vertebral anomalies and mental retardation. A similar phenotype has been previously reported in a sporadic male patient [Gabrielli et al., 1994: Am J Med Genet 53:290-293], suggesting a new variant form of oral-facial-digital syndrome.

Oral facial digitalVertebral anomaliesOFD syndromemedicineHumansAbnormalities MultipleMild formGenetics (clinical)cleft palatebusiness.industryhairy polypInfant NewbornBrainInfantAnatomyOFD syndrome; cleft palate; hairy polyp; vertebral anomalies; occipital anomaliesNew variantvertebral anomaliesmedicine.diseaseoccipital anomaliesVertebraDevelopmental disorderstomatognathic diseasesmedicine.anatomical_structureEl NiñoFemalePsychomotor DisordersbusinessTomography X-Ray ComputedPsychomotor delayNeckAmerican journal of medical genetics
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Z-permutable subgroups of finite groups

2016

Let Z be a complete set of Sylow subgroups of a finite group G, that is, a set composed of a Sylow p-subgroup of G for each p dividing the order of G. A subgroup H of G is called Z-permutable if H permutes with all members of Z. The main goal of this paper is to study the embedding of the Z-permutable subgroups and the influence of Z-permutability on the group structure.

P-soluble groupP-supersolubleGrups Teoria deFinite groupMATEMATICA APLICADAMatemàticaSubnormal subgroupZ-permutable subgroup
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Measurement of Upsilon production in collisions at root s=2.76 TeV

2014

The production of Υ(1S) , Υ(2S) and Υ(3S) mesons decaying into the dimuon final state is studied with the LHCb detector using a data sample corresponding to an integrated luminosity of 3.3pb-1 collected in proton–proton collisions at a centre-of-mass energy of s=2.76  TeV. The differential production cross-sections times dimuon branching fractions are measured as functions of the Υ transverse momentum and rapidity, over the ranges pT<15 GeV/ c and 2.0<y<4.5 . The total cross-sections in this kinematic region, assuming unpolarised production, are measured to be σpp→Υ(1S)X×BΥ(1S)→μ+μ-=1.111±0.043±0.044nb,σpp→Υ(2S)X×BΥ(2S)→μ+μ-=0.264±0.023±0.011nb,σpp→Υ(3S)X×BΥ(3S)→μ+μ-=0.159±0.020±0.…

PP COLLISIONSScience & Technology530 PhysicsPhysicsPHYSICS PARTICLES & FIELDSOCTET QUARKONIA PRODUCTIONPhysics InstituteLHCb - Abteilung HofmannJ-PSIoctet quarkonia productin; PP collisions; J-PSI; hadronic production; decay; distributions; toolHigh Energy Physics - ExperimentSettore FIS/04 - Fisica Nucleare e SubnuclearePhysical SciencesDISTRIBUTIONSTOOLFísica nuclearDECAYParticle Physics - ExperimentHADRONIC PRODUCTION
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An siRNA-based functional genomics screen for the identification of regulators of ciliogenesis and ciliopathy genes

2015

Item does not contain fulltext Defects in primary cilium biogenesis underlie the ciliopathies, a growing group of genetic disorders. We describe a whole-genome siRNA-based reverse genetics screen for defects in biogenesis and/or maintenance of the primary cilium, obtaining a global resource. We identify 112 candidate ciliogenesis and ciliopathy genes, including 44 components of the ubiquitin-proteasome system, 12 G-protein-coupled receptors, and 3 pre-mRNA processing factors (PRPF6, PRPF8 and PRPF31) mutated in autosomal dominant retinitis pigmentosa. The PRPFs localize to the connecting cilium, and PRPF8- and PRPF31-mutated cells have ciliary defects. Combining the screen with exome sequen…

PRPF31Pregnancy ProteinsInbred C57BLCiliopathiesMiceImmunologicCerebellumDatabases GeneticEye AbnormalitiesNon-U.S. Gov'tZebrafishExome sequencingMice KnockoutGeneticsResearch Support Non-U.S. Gov'tCiliumHigh-Throughput Nucleotide SequencingMetabolic Disorders Radboud Institute for Molecular Life Sciences [Radboudumc 6]GenomicsKidney Diseases CysticPhenotypeKidney DiseasesRNA InterferenceAbnormalitiesMultipleFunctional genomicsCiliary Motility DisordersGenetic MarkersEllis-Van Creveld SyndromeKnockoutJeune syndromeOther Research Radboud Institute for Molecular Life Sciences [Radboudumc 0]BiologyResearch SupportTransfectionRetinaArticlewhole-genome siRNA screenJoubert syndromeN.I.H.DatabasesCysticreverse geneticsResearch Support N.I.H. ExtramuralGeneticCerebellar DiseasesJoubert syndromeCiliogenesisSuppressor FactorsJournal ArticleSuppressor Factors ImmunologicmedicineAnimalsHumansAbnormalities MultipleGenetic Predisposition to DiseasePhotoreceptor CellsCiliaGenetic TestingCaenorhabditis elegansExtramuralMembrane ProteinsProteinsReproducibility of ResultsCell Biologymedicine.diseaseMice Inbred C57BLCytoskeletal ProteinsCiliopathyRenal disorders Radboud Institute for Molecular Life Sciences [Radboudumc 11]HEK293 CellsMutationciliopathiesGenome-Wide Association StudyNature Cell Biology
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