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showing 10 items of 4920 documents

TP53 and p16INK4A, but not H-KI-Ras, are involved in tumorigenesis and progression of pleomorphic adenomas.

2006

The putative role of TP53 and p16INK4A tumor suppressor genes and Ras oncogenes in the development and progression of salivary gland neoplasias was studied in 28 cases of pleomorphic adenomas (PA), 4 cases of cystic adenocarcinomas, and 1 case of carcinoma ex-PA. Genetic and epigenetic alterations in the above genes were analyzed by Polymerase Chain Reaction/Single Strand Conformational Polymorphism (PCR/SSCP) and sequencing and by Methylation Specific-PCR (MS-PCR). Mutations in TP53 were found in 14% (4/28) of PAs and in 60% (3/5) of carcinomas. Mutations in H-Ras and K-Ras were identified in4%(1/28) and7% (2/28) of PAs, respectively. Only 20% (1/5) of carcinomas screened displayed mutatio…

AdenomaAdenomaGenotypePhysiologyClinical BiochemistryBiologymedicine.disease_causeMethylationEpigenesis GeneticProto-Oncogene Proteins p21(ras)GenotypemedicineCarcinomaHumansEpigeneticsTP53GeneCyclin-Dependent Kinase Inhibitor p16Base SequenceSingle-strand conformation polymorphismCell BiologyMethylationmedicine.diseaseMolecular biologyCell Transformation NeoplasticMutationDisease ProgressionTumor Suppressor Protein p53Carcinogenesis
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Contribution of thallium-201-SPECT to the grading of tumorous alterations of the brain

1992

Single photon emission computed tomography (SPECT) with thallium-201-chloride (201Tl) was used in 22 patients to assess the grade of malignancy of brain tumors. Low- and high-grade malignant gliomas could be well differentiated by calculating the Grade Index (GI), i.e., 201Tl uptake in the tumor area relative to a contralateral brain region. Low-grade gliomas (WHO-grade I-II) usually showed a GI of1.5. Tumors classified histologically as high-grade malignant (WHO-grade III-IV) had GI values greater than 1.42 and a mean value of 1.89. Until labelled amino-acid tracers for gamma-cameras become commercially available, thallium-201 brain-SPECT can provide an independent and complementary method…

AdenomaAdultMalemedicine.medical_specialtychemistry.chemical_elementAstrocytomaSingle-photon emission computed tomographyMalignancyDiagnosis DifferentialMeningeal NeoplasmsmedicineHumansPituitary NeoplasmsGrading (tumors)AgedNeoplasm StagingTomography Emission-Computed Single-Photonmedicine.diagnostic_testBrain Neoplasmsbusiness.industryBrainGliomaNeuroma AcousticGeneral MedicineMiddle Agedmedicine.diseaseThallium RadioisotopeschemistryPositron emission tomographyThalliumFemaleSurgeryNeurology (clinical)NeurosurgeryMeningiomabusinessNuclear medicineNeurosurgical Review
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Synthetic indicator of the impact of colorectal cancer screening programmes on incidence rates

2020

ObjectiveThe impact of a screening programme on colorectal cancer (CRC) incidence in its target population depends on several variables, including coverage with invitations, participation rate, positivity rate of the screening test, compliance with an invitation to second-level assessment and endoscopists’ sensitivity. We propose a synthetic indicator that may account for all the variables influencing the potential impact of a screening programme on CRC incidence.DesignWe defined the ‘rate of advanced adenoma on the target population’ (AA-TAP) as the rate of patients who received a diagnosis of advanced adenoma within a screening programme, divided by the programme target population. We com…

AdenomaMaleColorectal cancercolorectal cancerTarget populationcolorectal cancer screeningNOScreening programmeSingle indicatormedicineHumansMass ScreeningNational levelEarly Detection of CancerAgedPotential impactbusiness.industryIncidenceIncidence (epidemiology)GastroenterologyColonoscopycolorectal cancer; colorectal cancer screening; Adenoma; Aged; Colonoscopy; Colorectal Neoplasms; Early Detection of Cancer; Female; Humans; Incidence; Italy; Male; Mass Screening; Middle Aged; Occult Blood; Patient Compliance; Program EvaluationMiddle Agedmedicine.diseaseItalyColorectal cancer screeningOccult BloodPatient ComplianceFemaleColorectal NeoplasmsbusinessProgram EvaluationDemographyGut
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SINGLE-TRIAL BASED INDEPENDENT COMPONENT ANALYSIS ON MISMATCH NEGATIVITY IN CHILDREN

2010

Independent component analysis (ICA) does not follow the superposition rule. This motivates us to study a negative event-related potential — mismatch negativity (MMN) estimated by the single-trial based ICA (sICA) and averaged trace based ICA (aICA), respectively. To sICA, an optimal digital filter (ODF) was used to remove low-frequency noise. As a result, this study demonstrates that the performance of the sICA+ODF and aICA could be different. Moreover, MMN under sICA+ODF fits better with the theoretical expectation, i.e., larger deviant elicits larger MMN peak amplitude.

AdolescentLearning DisabilitiesComputer Networks and CommunicationsSpeech recognitionMismatch negativityElectroencephalographyGeneral MedicineIndependent component analysisNoiseAcoustic StimulationAttention Deficit Disorder with HyperactivityEvoked Potentials AuditoryHumansSingle trialChildEvoked PotentialsDigital filterAlgorithmsMathematicsInternational Journal of Neural Systems
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Comparison of combined application treatment with one-visit varnish treatments in an orthodontic population

2013

Objective: To evaluate the effect of chlorhexidine-thymol varnish alone, its combination with chlorhexidine-fluo - ride containing dentifrice and fluoride varnish on oral hygiene and caries prevention in orthodontic patients. Study design: Sixty patients, aged 12-18, with orthodontic fixed appliances were randomly assigned into three groups as follows: Group 1 (n=20): 1% chlorhexidine and 1% thymol varnish (Cervitec ® Plus); Group 2 (n=20): Cervitec ® Plus+ 0.2% chlorhexidine and 0.2% sodium fluoride (900 ppm fluoride) (Cervitec ® Gel)); and Group 3 (n=20): 0.1% fluoride varnish (Fluor Protector ® ). Mutans streptococci (MS), lactobacilli (LB) levels, buffering capacity (BC), visible plaque…

AdolescentOffice VisitsPopulationDentistryOrthodonticsOdontologíaDental CariesOral hygieneOrthodontics Correctivechemistry.chemical_compoundGingivitisFluoridesSodium fluorideDentifricemedicineHumansFluorides TopicalSingle-Blind MethodProspective StudieseducationChildGeneral DentistryOrthodonticseducation.field_of_studybusiness.industryChlorhexidineFluoride varnishChlorhexidine:CIENCIAS MÉDICAS [UNESCO]Ciencias de la saludThymolDrug CombinationsOtorhinolaryngologychemistryUNESCO::CIENCIAS MÉDICASAnti-Infective Agents LocalSurgeryResearch-Articlemedicine.symptombusinessFluorideToothpastesmedicine.drug
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Genetic variation and urine cadmium levels: ABCC1 effects in the Strong Heart Family Study

2021

Abstract Genetic effects are suspected to influence cadmium internal dose. Our objective was to assess genetic determinants of urine cadmium in American Indian adults participating in the Strong Heart Family Study (SHFS). Urine cadmium levels and genotyped short tandem repeat (STR) markers were available on 1936 SHFS participants. We investigated heritability, including gene-by-sex and smoking interactions, and STR-based quantitative trait locus (QTL) linkage, using a variance-component decomposition approach, which incorporates the genetic information contained in the pedigrees. We also used available single nucleotide polymorphisms (SNPs) from Illumina’s Metabochip and custom panel to ass…

Adult010504 meteorology & atmospheric sciencesGenotypeChromosomal Proteins Non-HistoneGenetic LinkageHealth Toxicology and MutagenesisQuantitative Trait Locichemistry.chemical_elementPhysiologyLocus (genetics)Single-nucleotide polymorphismUrine010501 environmental sciencesQuantitative trait locusBiologyToxicology01 natural sciencesPolymorphism Single NucleotideArticleGenetic variationHumans0105 earth and related environmental sciencesGeneral Environmental ScienceGeneticsCadmiumPhosphoric Diester HydrolasesGeneral MedicineHeritabilityPollutionchemistryMicrosatelliteGeneral Earth and Planetary SciencesMultidrug Resistance-Associated ProteinsCadmiumISEE Conference Abstracts
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Evolution of lactase persistence: an example of human niche construction

2011

Niche construction is the process by which organisms construct important components of their local environment in ways that introduce novel selection pressures. Lactase persistence is one of the clearest examples of niche construction in humans. Lactase is the enzyme responsible for the digestion of the milk sugar lactose and its production decreases after the weaning phase in most mammals, including most humans. Some humans, however, continue to produce lactase throughout adulthood, a trait known as lactase persistence. In European populations, a single mutation (−13910*T) explains the distribution of the phenotype, whereas several mutations are associated with it in Africa and the Middle …

Adult0106 biological sciencesAsiaNatural selectionmedicine.medical_treatmentLactoseBiology010603 evolutionary biology01 natural sciencesGene Expression Regulation EnzymologicGeneral Biochemistry Genetics and Molecular Biology03 medical and health sciencesGene FrequencyLactase persistencemedicineAnimalsHumansComputer SimulationNeolithicAlleleDomesticationLactaseddc:599.9030304 developmental biology2. Zero hungerGenetics0303 health sciencesGenetic VariationLactaseArticlesBiological EvolutionEuropeDomestic animalsDairyingLactase persistenceNiche constructionGenetics PopulationMilkAfricaTraitLocal environmentCattleNiche constructionGeneral Agricultural and Biological SciencesSingle mutationPhilosophical Transactions of the Royal Society B: Biological Sciences
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Single-cell RNA sequencing of oocytes from ovarian endometriosis patients reveals a differential transcriptomic profile associated with lower quality

2018

Abstract STUDY QUESTION Do oocytes from women with ovarian endometriosis (OE) have a different transcriptomic profile than those from healthy women? SUMMARY ANSWER Oocytes from endometriosis patients, independently of whether they came from the affected ovary, exhibited a differential transcriptomic profile compared to oocytes from healthy egg donors. WHAT IS KNOWN ALREADY Studies of endometriosis have sought to determine whether OE affects oocyte quality. While many reports indicate that oocytes recovered from endometriotic ovaries may be affected by the disease, other studies have found no significant differences among oocyte/embryo quality and fertilization, implantation and pregnancy ra…

Adult0301 basic medicineAdolescentEndometriosisEndometriosisOvaryBiologyAndrologyTranscriptomeYoung Adult03 medical and health sciences0302 clinical medicineHuman fertilizationmedicineHumansOvarian Diseases030219 obstetrics & reproductive medicineSequence Analysis RNAGene Expression ProfilingRehabilitationEmbryogenesisObstetrics and Gynecologymedicine.diseaseOocyte030104 developmental biologymedicine.anatomical_structureReproductive MedicineCase-Control StudiesOocytesOvarian EndometriosisFemaleSingle-Cell AnalysisTranscriptomeEmbryo qualityHuman Reproduction
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Comparative genetic study of intratumoral heterogenous MYCN amplified neuroblastoma versus aggressive genetic profile neuroblastic tumors.

2016

Intratumoral heterogeneous MYCN amplification (hetMNA) is an unusual event in neuroblastoma with unascertained biological and clinical implications. Diagnosis is based on the detection of MYCN amplification surrounded by non-amplified tumor cells by fluorescence in situ hybridization (FISH). To better define the genetic features of hetMNA tumors, we studied the Spanish cohort of neuroblastic tumors by FISH and single nucleotide polymorphism arrays. We compared hetMNA tumors with homogeneous MNA (homMNA) and nonMNA tumors with 11q deletion (nonMNA w11q-). Of 1091 primary tumors, 28 were hetMNA by FISH. Intratumoral heterogeneity of 1p, 2p, 11q and 17q was closely associated with hetMNA tumor…

Adult0301 basic medicineCancer ResearchCandidate geneAdolescentGene DosageSingle-nucleotide polymorphismBiologyPolymorphism Single NucleotideGene dosageGenetic profileCohort StudiesNeuroblastomaYoung Adult03 medical and health sciences0302 clinical medicineNeuroblastomaGeneticsmedicineHumansChildMolecular BiologyIn Situ Hybridization FluorescenceAgedAged 80 and overOncogene ProteinsGeneticsN-Myc Proto-Oncogene Proteinmedicine.diagnostic_testChromosomes Human Pair 11Nuclear ProteinsChromosomeMiddle Agedmedicine.diseaseNeuroblastic Tumor030104 developmental biologyChromosomes Human Pair 1Child PreschoolChromosomes Human Pair 2030220 oncology & carcinogenesisCancer researchChromosome DeletionChromosomes Human Pair 17Fluorescence in situ hybridization
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Outcomes of single versus double hormone receptor–positive breast cancer. A GEICAM/9906 sub-study

2018

Abstract Background Retrospective data suggest better outcomes for patients with double hormonal receptor (oestrogen [ER] and progesterone receptor [PgR])–positive (dHR+) early breast cancer, compared with single hormonal receptor–positive, sHR+, (ER+/PgR– or ER–/PgR+) disease. Here, we evaluate the classification according to intrinsic subtypes and clinical outcomes of sHR+ versus dHR+ in HER2-negative breast cancer patients enrolled in GEICAM/9906 study ( NCT00129922 ). Methods Archival tumours were retrieved retrospectively for the analysis of ER, PgR and HER2 status and classified into intrinsic subtypes using the PAM50 gene expression assay. Disease-free survival (DFS) and overall surv…

Adult0301 basic medicineOncologyendocrine systemCancer Researchmedicine.medical_specialtyPaclitaxelBreast NeoplasmsDisease-Free Survival03 medical and health sciencesBreast cancer0302 clinical medicineBreast cancerInternal medicineAntineoplastic Combined Chemotherapy ProtocolsProgesterone receptormedicineHumansPAM50Single receptor positiveskin and connective tissue diseasesReceptorCyclophosphamideAgedEpirubicinProportional Hazards ModelsRandomized Controlled Trials as TopicRetrospective StudiesHormone receptor positivebusiness.industryIncidence (epidemiology)Hazard ratioLuminal aMiddle Agedmedicine.disease030104 developmental biologyClinical Trials Phase III as TopicReceptors EstrogenOncologyIntrinsic subtypesHormone receptor030220 oncology & carcinogenesisFemaleFluorouracilReceptors ProgesteroneTranscriptomebusinesshormones hormone substitutes and hormone antagonistsHormoneEuropean Journal of Cancer
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