Search results for "points"

showing 10 items of 415 documents

p14(ARF) Prevents Proliferation of Aneuploid Cells by Inducing p53-Dependent Apoptosis.

2014

Weakening the Spindle Assembly Checkpoint by reduced expression of its components induces chromosome instability and aneuploidy that are hallmarks of cancer cells. The tumor suppressor p14(ARF) is overexpressed in response to oncogenic stimuli to stabilize p53 halting cell progression. Previously, we found that lack or reduced expression of p14(ARF) is involved in the maintenance of aneuploid cells in primary human cells, suggesting that it could be part of a pathway controlling their proliferation. To investigate this aspect further, p14(ARF) was ectopically expressed in HCT116 cells after depletion of the Spindle Assembly Checkpoint MAD2 protein that was used as a trigger for aneuploidy. …

Mad2 ProteinApoptosis; M Phase Cell Cycle Checkpoints; Mad2 Proteins; RNA Interference; Tumor Suppressor Protein p14ARF; AneuploidyApoptosiMitosisApoptosisM Phase Cell Cycle CheckpointAneuploidyHCT116 CellsSettore BIO/18 - GeneticaGene Knockout TechniquesMad2 ProteinsTumor Suppressor Protein p14ARFHumansM Phase Cell Cycle CheckpointsRNA InterferenceTumor Suppressor Protein p53Cell ProliferationJournal of cellular physiology
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Expression of spindle assembly checkpoint proteins BubR1 and Mad2 expression as potential biomarkers of malignant transformation of oral leukoplakia:…

2021

Background The Spindle Assembly Checkpoint (SAC) is a surveillance mechanism essential to ensure the accuracy of chromosome segregation during mitosis. Our aim was to evaluate the expression of SAC proteins in oral carcinogenesis, and to assess their potential in predicting malignant transformation of oral leukoplakia. Material and Methods We analysed the immunoexpression of BubR1, Mad2, Bub3, and Spindly proteins in 64 oral biopsies from 52 oral leukoplakias and 12 normal tissues. Univariate and multivariate analysis were performed to evaluate predictive factors for malignant transformation (MT). Results We observed that BubR1 and Mad2 were more highly expressed in high dysplasia grade les…

Mad2BUB3medicine.disease_causeMalignant transformationOral Cancer and Potentially malignant disordersmedicineoral dysplasiawnt ligandsHumansGeneral DentistryMitosisUNESCO:CIENCIAS MÉDICASLeukoplakiadestruction complexbusiness.industryResearchoral cancermedicine.disease?-cateninSpindle checkpointstomatognathic diseasesCell Transformation NeoplasticOtorhinolaryngologyDysplasiaMad2 ProteinsCancer researchM Phase Cell Cycle CheckpointsSurgeryLeukoplakia OralbusinessCarcinogenesisBiomarkersMedicina Oral, Patología Oral y Cirugía Bucal
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A de novo microdeletion of SEMA5A in a boy with autism spectrum disorder and intellectual disability.

2016

AbstractSemaphorins are a large family of secreted and membrane-associated proteins necessary for wiring of the brain. Semaphorin 5A (SEMA5A) acts as a bifunctional guidance cue, exerting both attractive and inhibitory effects on developing axons. Previous studies have suggested that SEMA5A could be a susceptibility gene for autism spectrum disorders (ASDs). We first identified a de novo translocation t(5;22)(p15.3;q11.21) in a patient with ASD and intellectual disability (ID). At the translocation breakpoint on chromosome 5, we observed a 861-kb deletion encompassing the end of the SEMA5A gene. We delineated the breakpoint by NGS and observed that no gene was disrupted on chromosome 22. We…

Male0301 basic medicinemedicine.medical_specialtyAutism Spectrum DisorderChromosomes Human Pair 22Translocation BreakpointNerve Tissue ProteinsSemaphorinsBiology[SDV.GEN.GH] Life Sciences [q-bio]/Genetics/Human geneticsBioinformaticsArticleTranslocation GeneticautismeChromosome Breakpoints03 medical and health sciencesSemaphorin[ SDV.MHEP ] Life Sciences [q-bio]/Human health and pathologyIntellectual Disabilitymental disordersIntellectual disabilityGeneticsmedicineHumans[ SDV.GEN.GH ] Life Sciences [q-bio]/Genetics/Human geneticsChildGenetics (clinical)Genetics[SDV.MHEP] Life Sciences [q-bio]/Human health and pathologyNeurosciencesMembrane Proteinsmedicine.disease030104 developmental biology[SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human geneticsAutism spectrum disorderNeurons and CognitionPaternal InheritancecerveauChromosomes Human Pair 5AutismMedical geneticsChromosome DeletionmicrodélétionhumainChromosome 22[SDV.MHEP]Life Sciences [q-bio]/Human health and pathologyGenetic screen
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Fibroblasts from bank voles inhabiting Chernobyl have increased resistance against oxidative and DNA stresses

2018

Background Elevated levels of environmental ionizing radiation can be a selective pressure for wildlife by producing reactive oxygen species and DNA damage. However, the underlying molecular mechanisms that are affected are not known. Results We isolated skin fibroblasts from bank voles (Myodes glareolus) inhabiting the Chernobyl nuclear power plant accident site where background radiation levels are about 100 times greater than in uncontaminated areas. After a 10 Gy dose of gamma radiation fibroblasts from Chernobyl animals recovered faster than fibroblasts isolated from bank voles living in uncontaminated control area. The Chernobyl fibroblasts were able to sustain significantly higher do…

Male0301 basic medicinep53Antioxidantmedicine.medical_treatment010501 environmental sciences01 natural sciencesAntioxidantsIonizing radiationsäteilybiologiachemistry.chemical_classificationCell DeathbiologyArvicolinaelcsh:CytologyBank volefibroblastitOxidantshumanitiesCell biologyAntioxidant capacityBank voleResearch ArticleG2 PhaseCell SurvivalDNA damagemetsämyyräOxidative phosphorylationCell LineMicrobiologyChernobyl03 medical and health sciencesmedicineAnimalsEnvironmental ionizing radiationlcsh:QH573-671Geneoksidatiivinen stressi0105 earth and related environmental sciencesantioksidantitReactive oxygen speciesCell Cycle CheckpointsDNACell BiologyFibroblastsbiology.organism_classificationresistenssiOxidative Stress030104 developmental biologyChernobyl Nuclear AccidentchemistryGamma RaysApoptosisbank volesDNA damageTumor Suppressor Protein p53BMC Cell Biology
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Deep dry needling of trigger points located in the lateral pterygoid muscle: efficacy and safety of treatment for management of myofascial pain and t…

2014

Background To determine whether deep dry needling (DDN) of trigger points (TPs) in the lateral pterygoid muscle (LPM) would significantly reduce pain and improve function, compared with methocarbamol/paracetamol medication. Material and Methods Forty-eight patients with chronic myofascial pain located in the LPM were selected and randomly assigned to one of two groups (DDN test group, n=24; drug-treated control group, n=24). The test group received three applications of needling of the LPM once per week for three weeks, while control group patients were given two tablets of a methocarbamol/paracetamol combination every six hours for three weeks. Assessments were carried out pretreatment, 2 …

MaleAcupuncture TherapyLateral pterygoid musclelaw.inventionRandomized controlled triallawMyofascial Pain SyndromesDry needlingMethocarbamolMuscle Relaxants CentralEquipment DesignAnalgesics Non-NarcoticMiddle AgedTemporomandibular Joint Disorders:CIENCIAS MÉDICAS [UNESCO]Ciencias de la saludTreatment OutcomeNeedlesAnesthesiaUNESCO::CIENCIAS MÉDICASFemalePterygoid Musclesmedicine.drugAdultmedicine.medical_specialtyAdolescentOdontologíaMyofascial pain syndromeYoung AdultmedicineHumansPain ManagementGeneral DentistryMasticationAcetaminophenAgedOral Medicine and Pathologybusiness.industryResearchTrigger PointsPterygoid Musclesmedicine.diseaseSurgeryAcetaminophenOtorhinolaryngologySurgerybusinessAcupuncture PointsMethocarbamol
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Analysis of t(15;17) chromosomal breakpoint sequences in therapy-related versus de novo acute promyelocytic leukemia: Association of DNA breaks with …

2010

We compared genomic breakpoints at the PML and RARA loci in 23 patients with therapy-related acute promyelocytic leukemia (t-APL) and 25 de novo APL cases.Eighteen of 23 t-APL cases received the topoisomerase II poison mitoxantrone for their primary disorder. DNA breaks were clustered in a previously reported 8 bp "hot spot" region of PML corresponding to a preferred site of mitoxantrone-induced DNA topoisomerase II-mediated cleavage in 39% of t-APL occurring in patients exposed to this agent and in none of the cases arising de novo (P = 0.007). As to RARA breakpoints, clustering in a 3' region of intron 2 (region B) was found in 65% of t-APL and 28% of de novo APL patients, respectively. S…

MaleCancer ResearchReceptors Retinoic AcidRetinoic AcidMessengerPromyelocytic Leukemia ProteinTranslocation GeneticChromosome BreakpointsLeukemia Promyelocytic Acuteimmune system diseasesReceptorsPromyelocyticGeneticsLeukemiabiologyReverse Transcriptase Polymerase Chain ReactionRetinoic Acid Receptor alphaNuclear ProteinsDNA NeoplasmMiddle AgedFemaleHumanAdultAcute promyelocytic leukemiaChromosome BreakpointsTranslocationAntineoplastic AgentsAcuteChromosomesYoung AdultPromyelocytic leukemia proteinGeneticGeneticsmedicineConsensus sequenceHumansRNA MessengerReceptors Retinoic Acid; Male; Young Adult; Middle Aged; Chromosome Breakpoints; Female; Chromosomes Human Pair 17; Tumor Suppressor Proteins; Humans; DNA Neoplasm; Translocation Genetic; Leukemia Promyelocytic Acute; Antineoplastic Agents; Nuclear Proteins; RNA Messenger; Mitoxantrone; Reverse Transcriptase Polymerase Chain Reaction; Chromosomes Human Pair 15; Transcription Factors; Aged; AdultneoplasmsAgedChromosomes Human Pair 15Pair 17Tumor Suppressor ProteinsTopoisomeraseBreakpointPair 15DNAmedicine.diseaseRetinoic acid receptor alphabiology.proteinNeoplasmRNAHuman genomeMitoxantroneSettore MED/15 - Malattie del SangueChromosomes Human Pair 17Transcription FactorsGenes, Chromosomes and Cancer
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The dapagliflozin and prevention of adverse outcomes in chronic kidney disease (DAPA-CKD) trial: baseline characteristics

2020

Abstract Background The Dapagliflozin and Prevention of Adverse outcomes in Chronic Kidney Disease (DAPA-CKD; NCT03036150) trial was designed to assess the effect of the sodium–glucose co-transporter 2 (SGLT2) inhibitor dapagliflozin on kidney and cardiovascular events in participants with CKD with and without type 2 diabetes (T2D). This analysis reports the baseline characteristics of those recruited, comparing them with those enrolled in other trials. Methods In DAPA-CKD, 4304 participants with a urinary albumin:creatinine ratio (UACR) ≥200 mg/g and estimated glomerular filtration rate (eGFR) between 25 and 75 mL/min/1.73 m2 were randomized to dapagliflozin 10 mg once daily or placebo. Me…

MaleIGA NEPHROPATHYRATIONALEPROGRESSIONType 2 diabetesurologic and male genital diseasesDiabetic nephropathychemistry.chemical_compoundGlucosidesDESIGNMedicineFAILUREDiabetic NephropathiesDapagliflozinrandomized controlled clinical trialPrognosisfemale genital diseases and pregnancy complications//purl.org/pe-repo/ocde/ford#3.02.13 [https]Cardiovascular DiseasesNephrologyFemalesodium–glucose co-transporter-2 inhibitormedicine.symptomBENAZEPRILGlomerular Filtration Ratemedicine.medical_specialtyFinerenoneINHIBITIONNephropathy//purl.org/pe-repo/ocde/ford#3.02.20 [https]Double-Blind MethodClinical ResearchInternal medicineDiabetes mellitusEND-POINTSHumansBenzhydryl CompoundsRenal Insufficiency ChronicAcademicSubjects/MED00340Sodium-Glucose Transporter 2 InhibitorsAgedTransplantationDECLINEbusiness.industrysodium-glucose co-transporter-2 inhibitordapagliflozinmedicine.diseaseEFFICACYEditor's ChoiceDiabetes Mellitus Type 2chemistryAlbuminuriaORIGINAL ARTICLESbusinesschronic kidney diseaseKidney disease
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Trends in the prevalence of asthma and allergic rhinitis in Italy between 1991 and 2010

2012

The prevalence of asthma increased worldwide until the 1990s, but since then there has been no clear temporal pattern. The present study aimed to assess time trends in the prevalence of current asthma, asthma-like symptoms and allergic rhinitis in Italian adults from 1990 to 2010. The same screening questionnaire was administered by mail or phone to random samples of the general population (age 20-44 yrs) in Italy, in the frame of three multicentre studies: the European Community Respiratory Health Survey (ECRHS) (1991-1993; n=6,031); the Italian Study on Asthma in Young Adults (ISAYA) (1998-2000; n=18,873); and the Gene Environment Interactions in Respiratory Diseases (GEIRD) study (2007-2…

MalePediatricsCross-sectional study95% CI 1.19-1.59) from 1998-2000 to 2007-2010but since then there has been no clear temporal pattern. The present study aimed to assess time trends in the prevalence of current asthmaAbstract The prevalence of asthma increased worldwide until the 1990stemporal trendsSurveys and QuestionnairesEpidemiologySurveys and QuestionnaireMedicineasthma-like symptoms and allergic rhinitis in Italian adults from 1990 to 2010. The same screening questionnaire was administered by mail or phone to random samples of the general population (age 20-44 yrs) in ItalyYoung adultrespectively. The prevalence of current asthma was stable during the 1990s and increased (relative risk 1.38from 10.1% to 13.9% and from 16.8% to 25.8%education.field_of_studyAllergic rhinitis; Asthma; Epidemiology; Prevalence; Temporal trends; Wheezing;medicine.diagnostic_testSmokingthe median prevalence of current asthmaallergic rhinitis asthma epidemiology prevalence temporal trends wheezingItalyAbstract The prevalence of asthma increased worldwide until the 1990s but since then there has been no clear temporal pattern. The present study aimed to assess time trends in the prevalence of current asthma asthma-like symptoms and allergic rhinitis in Italian adults from 1990 to 2010. The same screening questionnaire was administered by mail or phone to random samples of the general population (age 20-44 yrs) in Italy in the frame of three multicentre studies: the European Community Respiratory Health Survey (ECRHS) (1991-1993; n=6031); the Italian Study on Asthma in Young Adults (ISAYA) (1998-2000; n=18873); and the Gene Environment Interactions in Respiratory Diseases (GEIRD) study (2007-2010; n=10494). Time trends in prevalence were estimated using Poisson regression models in the centres that repeated the survey at different points in time. From 1991 to 2010 the median prevalence of current asthma wheezing and allergic rhinitis increased from 4.1% to 6.6% from 10.1% to 13.9% and from 16.8% to 25.8% respectively. The prevalence of current asthma was stable during the 1990s and increased (relative risk 1.38 95% CI 1.19-1.59) from 1998-2000 to 2007-2010 mainly in subjects who did not report allergic rhinitis. The prevalence of allergic rhinitis has increased continuously since 1991. The asthma epidemic is not over in Italy. During the past 20 yrs asthma prevalence has increased by 38% in parallel with a similar increase in asthma-like symptoms and allergic rhinitis.mainly in subjects who did not report allergic rhinitis. The prevalence of allergic rhinitis has increased continuously since 1991. The asthma epidemic is not over in Italy. During the past 20 yrssymbolsasthma prevalence has increased by 38%FemaleepidemiologyHumanPulmonary and Respiratory MedicineAdult494). Time trends in prevalence were estimated using Poisson regression models in the centres that repeated the survey at different points in time. From 1991 to 2010in parallel with a similar increase in asthma-like symptoms and allergic rhinitismedicine.medical_specialtyRhinitis Allergic PerennialPopulationprevalencethe Italian Study on Asthma in Young Adults (ISAYA) (1998-2000Settore MED/10 - Malattie Dell'Apparato Respiratorio031)and the Gene Environment Interactions in Respiratory Diseases (GEIRD) study (2007-2010Settore MED/01 - Statistica Medicasymbols.namesakeYoung AdultAllergic rhinitiHumansRespiratory soundsPoisson regressioneducationAsthmaRespiratory SoundsCross-Sectional Studieallergic rhinitisbusiness.industrywheezingwheezing and allergic rhinitis increased from 4.1% to 6.6%Rhinitis Allergic Seasonalasthmain the frame of three multicentre studies: the European Community Respiratory Health Survey (ECRHS) (1991-1993medicine.disease873)Cross-Sectional Studiesn=10Relative riskTemporal trendRespiratory Soundn=6n=18business
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Definition of fibromyalgia severity: findings from a cross-sectional survey of 2339 Italian patients

2021

Abstract Objective To establish optimal cut-off values for the scores of the revised Fibromyalgia Impact Questionnaire (FIQR), the modified Fibromialgia Assessment Scale (FAS 2019mod), and the Polysymptomatic Distress Scale (PDS) in order to distinguish five levels of FM disease severity. Methods Consecutive FM patients were evaluated with the three clinimetric indices, and each patient was required to answer the anchor question: ‘In general, would you say your health is 1 = very good, 2 = good, 3 = fair, 4 = poor, or 5 = very poor?’—which represented the external criterion. Cut-off points were established through the interquartile reconciliation approach. Results The study sample consisted…

MalePercentileSettore MED/16 - REUMATOLOGIAFibromyalgiaCross-sectional studyseverityDiseaseSeverity of Illness IndexEconomica0302 clinical medicinemodifiedInterquartile rangeRetrospective StudieFibromyalgiaSurveys and QuestionnairesSurveys and QuestionnairePharmacology (medical)030212 general & internal medicinecut-off pointsPain MeasurementFibromyalgia Assessment Status; cut-off points; fibromyalgia; modified; polysymptomatic distress scale; revised Fibromyalgia Impact Questionnaire; severity; Cross-Sectional Studies; Female; Fibromyalgia; Follow-Up Studies; Humans; Incidence; Italy; Male; Middle Aged; Pain Measurement; Prognosis; Retrospective Studies; Severity of Illness Index; Surveys and Questionnaires; Quality of LifeIncidencerevised Fibromyalgia Impact Questionnairecut-off points; fibromyalgia; Fibromyalgia Assessment Status; modified; polysymptomatic distress scale; revised Fibromyalgia Impact Questionnaire; severityMiddle AgedPrognosisDistressItalyFemalefibromyalgiaFibromyalgia Assessment StatusHumanmedicine.medical_specialtyPrognosiRevised Fibromyalgia Impact QuestionnaireFollow-Up Studie03 medical and health sciencesRheumatologyInternal medicineSeverity of illnesscut-off pointmedicineHumansRetrospective Studies030203 arthritis & rheumatologyCross-Sectional Studiebusiness.industrymedicine.diseaseFibromyalgia Assessment StatuCross-Sectional StudiesFibromyalgia; severity; cut-off points; revised Fibromyalgia Impact Questionnaire; modified; Fibromyalgia Assessment Status; polysymptomatic distress scalepolysymptomatic distress scalefibromyalgia assessment status; cut-off points; fibromyalgia; modified; polysymptomatic distress scale; revised fibromyalgia impact questionnaire; severityQuality of LifebusinessFollow-Up Studies
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Genetic Instability and Intratumoral Heterogeneity in Neuroblastoma with MYCN Amplification Plus 11q Deletion

2013

Background/Aim Genetic analysis in neuroblastoma has identified the profound influence of MYCN amplification and 11q deletion in patients’ prognosis. These two features of high-risk neuroblastoma usually occur as mutually exclusive genetic markers, although in rare cases both are present in the same tumor. The purpose of this study was to characterize the genetic profile of these uncommon neuroblastomas harboring both these high-risk features. Methods We selected 18 neuroblastomas with MNA plus 11q loss detected by FISH. Chromosomal aberrations were analyzed using Multiplex Ligation-dependent Probe Amplification and Single Nucleotide Polymorphism array techniques. Results and Conclusion Thi…

Malelcsh:MedicineMutually exclusive eventsGenetic analysisPediatricsGenetic profileChromosome BreakpointsNeuroblastomaGene duplicationPathologylcsh:ScienceChildGeneticsOncogene ProteinsN-Myc Proto-Oncogene ProteinMultidisciplinaryNuclear ProteinsOncologyChild PreschoolCytogenetic AnalysisMedicineFemaleChromosome DeletionResearch ArticleGenetic MarkersBiologyPolymorphism Single NucleotideCytogeneticsDiagnostic MedicineNeuroblastomamedicineGeneticsCancer GeneticsHumansIn patientGenetic Predisposition to DiseaseneoplasmsBiologyClinical GeneticsChromosomes Human Pair 11lcsh:RGene AmplificationInfantmedicine.diseaseGenetic markerPediatric OncologyMycn amplificationCancer researchlcsh:QBiomarkersGeneral PathologyPLoS ONE
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