Search results for "TERT"

showing 10 items of 1210 documents

Orthokeratinized odontogenic cysts: a Spanish tertiary care centre study based on HPV DNA detection

2018

Abstract Background The role of human papillomavirus (HPV) in orthokeratinized odontogenic cysts (OOCs) has rarely been studied. The objective is to describe the clinicopathological findings in a series of OOCs from a Spanish population that were investigated in relation to the possible presence of HPV. Methods A clinicopathological retrospective analysis followed by a molecular analysis of 28 high- and low-risk HPV genotypes was performed in OOC samples of patients seen during the last 15-years in a Spanish tertiary care center. Results Of 115 odontogenic cysts with keratinization, 16 cases of OOCs were confirmed and evaluated. OOCs occurred predominantly in the mandible of males (mean age…

MaleTertiary careCohort StudiesTertiary Care Centers0302 clinical medicineRecurrenceMedicinePapillomaviridaeBiopsy Needlevirus diseasesMiddle AgedImmunohistochemistryfemale genital diseases and pregnancy complicationsOdontogenicMolecular analysisHPV DNA detectionCell Transformation Neoplastic030220 oncology & carcinogenesisCarcinoma Squamous CellOral and maxillofacial surgeryMouth NeoplasmsAdultmedicine.medical_specialtyHPVAdolescentlcsh:Specialties of internal medicineDents MalaltiesRisk AssessmentYoung Adult03 medical and health scienceslcsh:RC581-951HumansMandibular DiseasesNeoplastic transformationGeneral DentistryRetrospective Studiesbusiness.industryOrthokeratinized odontogenic cystResearch030206 dentistryHigh- and low-riskDermatologyOtorhinolaryngologyOtorhinolaryngologySpainDNA ViralOdontogenic CystsEtiologyNeurology (clinical)HPV High- and low-risk Orthokeratinized odontogenic cyst RecurrencebusinessFollow-Up StudiesHead & Face Medicine
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Plasma membrane Ca2+ ATPase 4 is required for sperm motility and male fertility.

2004

Calcium and Ca(2+)-dependent signals play a crucial role in sperm motility and mammalian fertilization, but the molecules and mechanisms underlying these Ca(2+)-dependent pathways are incompletely understood. Here we show that homozygous male mice with a targeted gene deletion of isoform 4 of the plasma membrane calcium/calmodulin-dependent calcium ATPase (PMCA), which is highly enriched in the sperm tail, are infertile due to severely impaired sperm motility. Furthermore, the PMCA inhibitor 5-(and-6)-carboxyeosin diacetate succinimidyl ester reduced sperm motility in wild-type animals, thus mimicking the effects of PMCA4 deficiency on sperm motility and supporting the hypothesis of a pivot…

MaleTime FactorsBiochemistryMiceTestisProtein IsoformsCloning MolecularCation Transport Proteinsreproductive and urinary physiologySperm motilityMice KnockoutRecombination GeneticReverse Transcriptase Polymerase Chain ReactionPlasma Membrane Calcium-Transporting ATPasesFluoresceinsTransport proteinCell biologyBlotting SouthernBiochemistrySperm Motilityendocrine systemDNA ComplementaryGenotypeBlotting WesternMolecular Sequence Datachemistry.chemical_elementSuccinimidesCalcium-Transporting ATPasesFertilization in VitroCalciumBiologyPlasma Membrane Calcium-Transporting ATPasesAnimalsHumansMolecular BiologyFluorescent DyesCalcium metabolismModels Geneticurogenital systemCell BiologyBlotting NorthernSpermProtein Structure TertiaryRatsCalcium ATPaseAlternative SplicingFertilitychemistryMicroscopy FluorescencePlasma membrane Ca2+ ATPaseCalciumThe Journal of biological chemistry
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Assessment of Acute Acral Lesions in a Case Series of Children and Adolescents During the COVID-19 Pandemic

2020

Importance A novel coronavirus named severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) has recently been identified as the cause of a pandemic called coronavirus disease 2019 (COVID-19). In this context, some associated skin diseases have been described. Cutaneous lesions referred to as acute acro-ischemia have been reported as a possible sign of COVID-19 in adolescents and children. Objective To evaluate the pathogenesis of these newly described acute acral lesions. Design, Setting, and Participants This prospective case series was conducted at La Fe University Hospital, a tertiary referral hospital in Valencia, Spain, between April 9 and April 15, 2020. Among 32 referred patien…

Malemedicine.medical_specialtyAdolescentBiopsyPneumonia ViralContext (language use)DiseaseDermatologyTertiary referral hospitalSkin DiseasesDactylitisSerology030207 dermatology & venereal diseases03 medical and health sciencesCOVID-19 Testing0302 clinical medicineBiopsyHumansMedicineProspective StudiesChildProspective cohort studyPandemicsmedicine.diagnostic_testClinical Laboratory TechniquesReverse Transcriptase Polymerase Chain Reactionbusiness.industryCOVID-19Infantmedicine.diseaseDermatologyPneumoniaSpainChild Preschool030220 oncology & carcinogenesisFemaleCoronavirus InfectionsbusinessJAMA Dermatology
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Empirical examination of the indicator ‘pediatric gastroenteritis hospitalization rate’ based on administrative hospital data in Italy

2014

Background: Awareness of the importance of strengthening investments in child health and monitoring the quality of services in the pediatric field is increasing. The Pediatric Quality Indicators developed by the US Agency for Healthcare Research and Quality (AHRQ), use hospital administrative data to identify admissions that could be avoided through high-quality outpatient care. Building on this approach, the purpose of this study is to perform an empirical examination of the 'pediatric gastroenteritis admission rate' indicator in Italy, under the assumption that lower admission rates are associated with better management at the primary care level and with overall better quality of care for…

Malemedicine.medical_specialtyBacterial GastroenteritisAdolescentQuality indicatorspediatric gastroenteritisPediatricsDiagnosis DifferentialAge DistributionSettore MED/38 - Pediatria Generale E SpecialisticaAmbulatory careRisk FactorsHealth caremedicineHumansHealth services researchChildIntensive care medicineSettore MED/42 - IGIENE GENERALE E APPLICATAQuality Indicators Health CareRetrospective Studiesbusiness.industryIncidenceResearchIncidence (epidemiology)Quality of careHealth services researchInfantpedatric gastroentertiRetrospective cohort studyAwarenessHospital RecordsGastroenteritisItalyChild PreschoolData Interpretation StatisticalRelative riskpedatric gastroentertis; hospitalizationFemalehospitization rateDiagnosis codebusinesshospitalizationItalian Journal of Pediatrics
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A genetic variant of the atrial natriuretic peptide gene is associated with cardiometabolic protection in the general community

2011

Objectives We sought to define the cardiometabolic phenotype associated with rs5068, a genetic variant of the atrial natriuretic peptide (ANP) gene. Background The ANP and B-type natriuretic peptide play an important role in cardiorenal homeostasis but also exert metabolic actions. Methods We genotyped 1,608 randomly selected residents from Olmsted County, Minnesota. Subjects were well-characterized. Results Genotype frequencies were: AA 89.9%, AG 9.7%, and GG 0.4%; all subsequent analyses were AA versus AG+GG. The G allele was associated with increased plasma levels of N-terminal pro-atrial natriuretic peptide (p = 0.002), after adjustment for age and sex. The minor allele was also associa…

Malemedicine.medical_specialtyLinkage disequilibriumSettore MED/09 - Medicina InternaGenotypemedicine.drug_classPopulationBlood PressureArticlemetabolic syndromeBody Mass IndexRandom AllocationAtrial natriuretic peptideInternal medicineatrial natriuretic peptidelipid metabolismNatriuretic Peptide BrainHomeostasimedicineNatriuretic peptideHomeostasisHumansAlleleeducationAllelesAgedAlleleeducation.field_of_studycardiometabolic diseasebusiness.industryGenetic VariationDNAMiddle Agedmedicine.diseaseEchocardiography DopplerGenotype frequencyProtein Structure TertiaryMinor allele frequencyEndocrinologyPhenotypeFemaleMetabolic syndromebusinessCardiology and Cardiovascular Medicinenatriuretic peptidesAtrial Natriuretic FactorHuman
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Effect of dietary supplementation with a mixture of Vitamins C and E on fertilization of tertiary butyl hydroperoxide-treated oocytes and parthenogen…

2002

The present study aims to analyze the effect of dietary supplementation with a mixture of Vitamins C and E on fertilization and later development of tertiary butyl hydroperoxide (tBH)-treated mouse oocytes and on parthenogenetic activation of freshly ovulated mouse oocytes. We fed hybrid mice a standard diet supplemented or not supplemented with Vitamins C and E from the first day of weaning until the age of 12 weeks. We noted no significant effect of diet on fertilization rate, percentage of total and hatching blastocysts, total number of cells, mitotic index and percentage of apoptotic nuclei at 120 h post-insemination of oocytes incubated for 15 min in the presence of 0, 1, 5 and 10 micr…

Malemedicine.medical_specialtyMitotic indexAntioxidantmedicine.medical_treatmentMaturation-Promoting FactorParthenogenesisAscorbic AcidFertilization in VitroWeaningBiologychemistry.chemical_compoundEmbryonic and Fetal DevelopmentMiceHuman fertilizationFood Animalstert-ButylhydroperoxideOral administrationInternal medicineCulture TechniquesmedicineWeaningAnimalsVitamin ESmall AnimalsProtein kinase AEthanolEquineHatchingMice Inbred C57BLEndocrinologychemistryFertilizationMesothelinDietary SupplementsMice Inbred CBAOocytesAnimal Science and ZoologyFemaleMitogen-Activated Protein KinasesTheriogenology
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Mechanism of Block by 4-Aminopyridine of the Transient Outward Current in Rat Ventricular Cardiomyocytes

1998

The effects of 4-aminopyridine (4-AP) on the transient outward current (I to ) were investigated in rat ventricular cardiomyocytes at different values of intracellular pH (pH i ) and extracellular pH (pH o ). The 4-AP was administered either extracellularly (bath application) or intracellularly (diffusion from the intrapipette solution). The 4-AP diminished I to given either from inside or outside the cell membrane. The block by extracellularly applied 4-AP (4-AP o ) of the peak amplitude of I to was decreased by external acidification but increased by external alkalinization: conversely. the block by 4-AP o was decreased by internal alkalinization but increased by internal acidification. I…

Malemedicine.medical_specialtyPatch-Clamp TechniquesTertiary amineHeart VentriclesIntracellular pHIn Vitro TechniquesIon ChannelsMembrane PotentialsRats Sprague-DawleyCell membraneInternal medicinemedicineExtracellularAnimalsMyocyte4-AminopyridinePharmacologyCardiac transient outward potassium currentChemistryMyocardiumCell Membrane4-AminopyridineHydrogen-Ion ConcentrationRatsEndocrinologymedicine.anatomical_structureBiophysicsFemaleExtracellular SpaceCardiology and Cardiovascular MedicineIntracellularmedicine.drugJournal of Cardiovascular Pharmacology
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Involvement of secretory phospholipase A2 activity in the zymosan rat air pouch model of inflammation.

1996

1. In the zymosan rat air pouch model of inflammation we have assessed the time dependence of phospholipase A2 (PLA2) accumulation in the inflammatory exudates as well as cell migration, myeloperoxidase activity, prostaglandin E2 (PGE2) and leukotriene B4 (LTB4) levels. 2. A significant increase in PLA2 activity was detected in 1,200 g supernatants of exudates 8 h after injection of zymosan into rat air pouch. This event coincided with peaks in cell accumulation (mainly neutrophils) and myeloperoxidase activity in exudates and was preceded by a rise in eicosanoid levels. 3. This enzyme (without further purification) behaved as a secretory type II PLA2 with an optimum pH at 7-8 units, lack o…

Malemedicine.medical_specialtySesterterpenesLeukotriene B4NeutrophilsAnti-Inflammatory AgentsLeukotriene B4DinoprostonePhospholipases AManoalidechemistry.chemical_compoundPhospholipase A2Internal medicinemedicineAnimalsProstaglandin E2Rats WistarPeroxidasePharmacologyInflammationAnalysis of VariancebiologyTerpenesZymosanZymosanRatsPhospholipases A2EndocrinologyEicosanoidBiochemistrychemistryMyeloperoxidasebiology.proteinHomosteroidslipids (amino acids peptides and proteins)PouchColchicinemedicine.drugResearch ArticleBritish journal of pharmacology
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Reproducibility, validity and responsiveness of the 200-metre fast walk test in patients undergoing cardiac rehabilitation

2011

Objective: To investigate the reliability, validity and responsiveness of the 200-metre fast walk test in patients with coronary artery disease engaged in a cardiac rehabilitation programme. Design: Descriptive study. Setting: Tertiary care hospital. Subjects: Thirty stable patients with coronary artery disease (51.9 ± 8.7 years), referred to the cardiac rehabilitation department after an acute coronary syndrome. Intervention: Not applicable. Main measures: Six-minute walk test distance, time to perform the 200-m fast walk test, peak power output of the graded maximal exercise test, before and after the programme; SF-36 quality of life questionnaire at baseline. Walk tests were performed tw…

Malemedicine.medical_specialtymedicine.medical_treatmentPhysical Therapy Sports Therapy and RehabilitationCoronary Artery DiseaseWalkingTertiary careCoronary artery diseasePhysical medicine and rehabilitationQuality of lifemedicineHumansIn patientRehabilitation departmentReproducibilityRehabilitationbusiness.industryRehabilitationReproducibility of ResultsMiddle Agedmedicine.diseaseWalk testExercise TestPhysical therapyFemalebusinessClinical Rehabilitation
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Pan-cancer analysis of whole genomes

2020

Publisher's version (útgefin grein)

Maletert promoter mutationsCancer development and immune defence Radboud Institute for Molecular Life Sciences [Radboudumc 2]DNA Mutational AnalysisNormal tissuesystematic analysisGermlineTranscriptome0302 clinical medicineAetiologyCàncerCellular SenescenceCancer0303 health sciencesdna-damageMassive parallel sequencingPan cancerREARRANGEMENTSHigh-Throughput Nucleotide SequencingGenomicsSciences bio-médicales et agricolesTelomereCOMPREHENSIVE3. Good healthTERT PROMOTER MUTATIONSsignatures030220 oncology & carcinogenesisScience & Technology - Other TopicsErfðarannsóknirHuman:Informàtica::Aplicacions de la informàtica::Bioinformàtica [Àrees temàtiques de la UPC]EvolutionRNA SplicingGenomicsArticleEvolution MolecularStructural variationRC025403 medical and health sciencesSDG 3 - Good Health and Well-beingGeneticgenomicsSYSTEMATIC ANALYSISGeneticsGenomics--Databases.HumansGenetic TestingMolecular BiologySIGNATURESWhole genome sequencing1000 MultidisciplinaryChromothripsisScience & TechnologyRC0254 Neoplasms. Tumors. Oncology (including Cancer)Information DisseminationResearchInstitutes_Networks_Beacons/mcrcPreventionBiology and Life SciencesMolecularOncogenesCloud Computingmedicine.diseaseGenòmicaCompute cloudsMutation570 Life sciences; biologyCOMPREHENSIVE CHARACTERIZATIONGenèticaWhole Genome Sequencing--methodsBackground informationDNA Mutational Analysis ; Evolution ; Genetic / genetics ; Genome ; Genomics ; Germ-Line Mutation / genetics ; High-Throughput Nucleotide Sequencing ; Human / genetics ; Humans ; ICGC/TCGA Pan-Cancer Analysis of Whole Genomes ConsortiumMedizinGenomeWhole-genomeGenome mappingNeoplasms2.1 Biological and endogenous factorsPromoter Regions GeneticCàncer -- Aspectes genèticsTelomeraseGeneticsWomen's cancers Radboud Institute for Molecular Life Sciences [Radboudumc 17]MultidisciplinaryChromothripsisGenomeManchester Cancer Research Centregenomics cancer profiling3rd-DAS10124 Institute of Molecular Life SciencesWomen's cancers Radboud Institute for Health Sciences [Radboudumc 17]Multidisciplinary SciencesParallel sequencingICGC/TCGA Pan-Cancer Analysis of Whole Genomes ConsortiumFemaleprofilingMedical GeneticsEngineering sciences. TechnologyBiotechnologyGeneral Science & TechnologyThe Cancer Genome Atlas610 Medicine & healthComputational biologyQH426 GeneticsBiologyConsortium of the International Cancer Genome ConsortiumPromoter RegionsGermline mutationPan-cancer analysisKrabbameinsrannsóknirmedicinecancerddc:610QH426Germ-Line MutationMedicinsk genetikKrabbamein030304 developmental biologyCell ProliferationLANDSCAPEGenome Humancomprehensive characterizationPan-cancer analysis of whole genomesPoint mutationHuman GenomeCancerReproducibility of ResultsSOMATIC MUTATIONSEVOLUTIONCancer sequencing Chromothripsis telomereDNA-DAMAGEMutagenesisPATTERNS3111 BiomedicineCHARACTERIZATION
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