Search results for "OSA"

showing 10 items of 9388 documents

Performance comparison of two whole genome amplification techniques in frame of multifactor preimplantation genetic testing

2018

Purpose To compare multiple displacement amplification and OmniPlex whole genome amplification technique performance during array comparative genome hybridization (aCGH), Sanger sequencing, SNaPshot and fragment size analysis downstream applications in frame of multifactor embryo preimplantation genetic testing. Methods Preclinical workup included linked short tandem repeat (STR) marker selection and primer design for loci of interest. It was followed by a family haplotyping, after which an in vitro fertilization preimplantation genetic testing (IVF-PGT) cycle was carried out. A total of 62 embryos were retrieved from nine couples with a confirmed single gene disorder being transmitted in t…

0301 basic medicineMalePregnancy RateFertilization in VitroBiology03 medical and health sciencessymbols.namesake0302 clinical medicinePregnancymedicineGeneticsSingle Embryo TransferHumansGenetic TestingAlleleGenetics (clinical)Preimplantation DiagnosisGenetic testingGeneticsWhole Genome AmplificationSanger sequencingComparative Genomic Hybridization030219 obstetrics & reproductive medicinePreimplantation genetic testingSingle gene disordermedicine.diagnostic_testTripeptidyl-Peptidase 1HaplotypeMultiple displacement amplificationObstetrics and GynecologyGeneral MedicineAneuploidyHuman geneticsWhole genome amplification030104 developmental biologyBlastocystReproductive MedicineEmbryosymbolsMicrosatelliteFemaleNucleic Acid Amplification TechniquesDevelopmental BiologyJournal of Assisted Reproduction and Genetics
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Could formaldehyde induce mutagenic and cytotoxic effects in buccal epithelial cells during anatomy classes?

2017

Background Due to increased formaldehyde exposure, carcinogenic to humans, several researches have been studying the potential toxicity and the safe levels for human beings. The aim of this study was to investigate mutagenicity and cytotoxicity in buccal epithelial exfoliated cells (BEC) of students subjected to formaldehyde (FA) during anatomy classes. Material and Methods BEC were collected periodically from 17 volunteers of undergraduate programs, who had participated in practical anatomy classes, before and after FA exposure. Cells were stained according to Feulgen method and then micronucleus test was applied. A total of 1,500 cells were assessed per individual in this study for the mi…

0301 basic medicineMaleProgrammed cell death03 medical and health sciencesFixativesYoung Adult0302 clinical medicineFormaldehydeMedicineCytotoxic T cellHumansFeulgen stainALDEÍDOSCytotoxicityGeneral DentistryCarcinogenOral Medicine and Pathologybusiness.industryCytotoxinsResearchMouth MucosaEpithelial Cells030206 dentistryBuccal administrationAnatomy:CIENCIAS MÉDICAS [UNESCO]030104 developmental biologyOtorhinolaryngologyMutagenesisMicronucleus testUNESCO::CIENCIAS MÉDICASSurgeryFemaleAnatomybusinessMicronucleusMedicina Oral, Patología Oral y Cirugía Bucal
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Investigating the emerging role of comparative proteomics in the search for new biomarkers of metal contamination under varying abiotic conditions

2016

13 pages; International audience; This study aims at investigating the potential use of comparative proteomics as a multi-marker approach of metal contamination, taking into account the potential confounding effect of water temperature. The major objective was to identify combinations of proteins specifically responding to a given metal, even if included in a metal mixture. The diagnostic approach was performed via the comparative analysis of protein expression on spot mapping provided by adult males of Gammarus pulex (Amphipoda, Crustacea) respectively exposed to arsenate (As), cadmium (Cd) or a binary mixture of these metals (AsCd) at three realistic temperatures (5, 10 and 15 °C). Proteo…

0301 basic medicineMaleProteomicsEnvironmental EngineeringProteomechemistry.chemical_element[ SDV.TOX.ECO ] Life Sciences [q-bio]/Toxicology/Ecotoxicology010501 environmental sciencesProteomics01 natural sciences03 medical and health scienceschemistry.chemical_compoundGammarus[SDV.BBM.GTP]Life Sciences [q-bio]/Biochemistry Molecular Biology/Genomics [q-bio.GN]Environmental ChemistryAnimalsSample preparationAmphipodaWaste Management and DisposalEcotoxicological impact0105 earth and related environmental sciencesMetal interactionCadmiumChromatographybiologyArsenateTemperaturebiology.organism_classificationPollutionElectrophoresisGammarus pulex030104 developmental biologyPulexchemistryArsenate13. Climate action[ SDV.BBM.GTP ] Life Sciences [q-bio]/Biochemistry Molecular Biology/Genomics [q-bio.GN]Arsenates[SDV.TOX.ECO]Life Sciences [q-bio]/Toxicology/EcotoxicologyGammarusBiomarkersWater Pollutants ChemicalCadmium
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Functional role of endothelial CXCL16/CXCR6-platelet-leucocyte axis in angiotensin II-associated metabolic disorders.

2018

Aims Angiotensin-II (Ang-II) is the main effector peptide of the renin-angiotensin system (RAS) and promotes leucocyte adhesion to the stimulated endothelium. Because RAS activation and Ang-II signalling are implicated in metabolic syndrome (MS) and abdominal aortic aneurysm (AAA), we investigated the effect of Ang-II on CXCL16 arterial expression, the underlying mechanisms, and the functional role of the CXCL16/CXCR6 axis in these cardiometabolic disorders. Methods and results Results from in vitro chamber assays revealed that CXCL16 neutralization significantly inhibited mononuclear leucocyte adhesion to arterial but not to venous endothelial cells. Flow cytometry and immunofluorescence s…

0301 basic medicineMaleRHOAPhysiologyMice Knockout ApoE030204 cardiovascular system & hematology0302 clinical medicineLeukocytesReceptorCells CulturedMetabolic SyndromebiologyChemistryAngiotensin IIMiddle AgedAortic AneurysmVascular endothelial growth factor ALosartanmedicine.anatomical_structurecardiovascular systemFemaleCardiology and Cardiovascular Medicinemedicine.drugSignal TransductionAdultBlood Plateletsmedicine.medical_specialtyEndothelium03 medical and health sciencesPhysiology (medical)Internal medicinemedicineCell AdhesionAnimalsHumansPlatelet activationReceptors CXCR6Angiotensin II receptor type 1Endothelial CellsChemokine CXCL16Platelet ActivationAngiotensin IICoculture TechniquesMice Inbred C57BLDisease Models Animal030104 developmental biologyEndocrinologyCase-Control Studiesbiology.proteinAngiotensin II Type 1 Receptor BlockersCardiovascular research
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DNA methylation changes and somatic mutations as tumorigenic events in Lynch syndrome-associated adenomas retaining mismatch repair protein expression

2018

Background: DNA mismatch repair (MMR) defects are a major factor in colorectal tumorigenesis in Lynch syndrome (LS) and 15% of sporadic cases. Some adenomas from carriers of inherited MMR gene mutations have intact MMR protein expression implying other mechanisms accelerating tumorigenesis. We determined roles of DNA methylation changes and somatic mutations in cancer-associated genes as tumorigenic events in LS-associated colorectal adenomas with intact MMR. Methods: We investigated 122 archival colorectal specimens of normal mucosae, adenomas and carcinomas from 57 LS patients. MMR-deficient (MMR-D, n 49) and MMR-proficient (MMR-P, n 18) adenomas were of particular interest and were inter…

0301 basic medicineMaleResearch paperMICROSATELLITE INSTABILITYHYPOMETHYLATIONDNA mismatch repairPHENOTYPEmedicine.disease_causeEpigenesis Genetic0302 clinical medicineCOLORECTAL ADENOMASCDKN2APromoter Regions Geneticcolorectal adenomaDNA methylationLINE-1 methylationTumor suppressorGeneral MedicineMethylationMiddle AgedCANCERTUMORSLynch syndromeDNA-metylaatio3. Good healthDEFICIENCY030220 oncology & carcinogenesisDNA methylationsyöpätauditFemaleColorectal adenomaAdultcongenital hereditary and neonatal diseases and abnormalitiesAdenomatumor suppressorsuolistosyövätColorectal adenomaBiologycomplex mixturesGeneral Biochemistry Genetics and Molecular Biology03 medical and health sciencesBRAF MUTATIONmedicineHumansLynchin oireyhtymäAgedTumor Suppressor ProteinsMicrosatellite instabilityDNAUNE-1 methylationta3122medicine.diseaseGENEColorectal Neoplasms Hereditary Nonpolyposisdigestive system diseasestumorigenesisCOPY NUMBER030104 developmental biologyLynch syndromeLong Interspersed Nucleotide Elements3121 General medicine internal medicine and other clinical medicineMutationTumorigenesisCancer research3111 BiomedicineTumotigenesismutationCarcinogenesisEBioMedicine
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Mast cells are associated with the onset and progression of celiac disease

2017

Background Celiac disease (CD) is an immune-mediated disorder characterized by an accumulation of immune cells in the duodenal mucosa as a consequence of both adaptive and innate immune responses to undigested gliadin peptides. Mast cells (MCs) are innate immune cells that are a major source of costimulatory signals and inflammatory mediators in the intestinal mucosa. Although MCs have previously been associated with CD, functional studies have never been performed. Objective We aimed at evaluating the role of MCs in the pathogenesis of CD. Methods Intestinal biopsy specimens of patients with CD were scored according to the Marsh classification and characterized for leukocyte infiltration a…

0301 basic medicineMaleSettore MED/09 - Medicina InternaImmunologygliadin immunologyFluorescent Antibody TechniqueBiologyCell DegranulationGliadinProinflammatory cytokinePathogenesis03 medical and health sciencesMice0302 clinical medicineImmune systemIntestinal mucosamedicineImmunology and AllergyAnimalsHumansCeliac diseaseMast CellsIntestinal Mucosap31-43 fragmentToll-like receptorInnate immune systemCeliac disease; gliadin immunology; mast cell; p31-43 fragment; mast cellFOXP3Mast cellImmunohistochemistryhumanitiesPeptide FragmentsMice Inbred C57BL030104 developmental biologymedicine.anatomical_structure030220 oncology & carcinogenesisImmunologyDisease ProgressionFemalemast cell
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Omega-3 long-chain polyunsaturated fatty acids intake in children : the role of family-related social determinants

2020

Omega-3 long-chain polyunsaturated fatty acids play a central role in neuronal growth and in the development of the human brain, since they are essential elements which depend on intake through diet to ensure an adequate amount. Fish and seafood are the main dietary sources of these fatty acids in Spain and in other countries. In order to assess the effect of the intake of common foods containing high amounts of omega-3 polyunsaturated fatty acids, a food frequency questionnaire was administered to parents of children and adolescents attending a primary school in Valencia (Spain), and the intake of dietary omega-3 such as eicosapentaenoic acid (EPA) and docosahexaenoic acid (DHA) was estima…

0301 basic medicineMaleSocial Determinants of HealthBody Mass Index0302 clinical medicineNutrientMedicine030212 general & internal medicineChildchemistry.chemical_classificationÁcidos grasos.Nutrition and Dieteticsomega-3 fatty acidsEicosapentaenoic acidChildren - Nutrition - Social aspects.Docosahexaenoic acidNiños - Alimentación - Aspectos sociales.Educational StatusFemalelcsh:Nutrition. Foods and food supplyLong chainPolyunsaturated fatty aciddiet-deficientmedicine.medical_specialtylcsh:TX341-641Article03 medical and health scienceschildrennutrientsEnvironmental healthFatty Acids Omega-3AnimalsHumansADHDSocial determinants of healthFish as food.030109 nutrition & dieteticsbusiness.industryPublic healthFeeding Behaviorfish intakeSmoked fishCross-Sectional StudiesPescado.chemistrySeafoodSpainUnemploymentFatty acids.businessFood Science
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Facial cutaneo-mucosal venous malformations can develop independently of mutation of TEK gene but may be associated with excessive expression of Src…

2017

International audience; We aimed to search for mutations in the germline and somatic DNA of the TEK gene and to analyze the expression level of Src and phospho- Src (p-Src) in tumor and healthy tissues from patients with facial cutaneo-mucosal venous malformations (VMCM). Eligible patients from twelve families and thirty healthy controls were recruited respectively at the Departments of Stomatology and Oral Surgery, and Transfusion Medicine of Tlemcen University Medical Centre. Immunoblot analyses of Src and p-Src were performed after direct DNA sequencing. No somatic or germline mutations were found in all the 23 exons and their 5' and 3' intronic flanking regions, except for one case in w…

0301 basic medicineMaleSomatic cellVascular MalformationsCutaneo-mucosal venous malformationsTyrosine Kinase Tie2Bioinformaticsmedicine.disease_causeGermlineMetastasisp-SrcExonPharmacology Toxicology and Pharmaceutics(all)General Pharmacology Toxicology and PharmaceuticsPhosphorylationCancerMedicine(all)MutationBrief ReportGeneral MedicineReceptor TIE-2[SDV.BDD.MOR] Life Sciences [q-bio]/Development Biology/Morphogenesis3. Good healthsrc-Family Kinases[SDV.BBM.GTP] Life Sciences [q-bio]/Biochemistry Molecular Biology/Genomics [q-bio.GN]FemaleProto-oncogene tyrosine-protein kinase SrcReceptorSrc[SDV.MHEP.AHA] Life Sciences [q-bio]/Human health and pathology/Tissues and Organs [q-bio.TO]AdolescentDirect sequencingContext (language use)BiologyVegfGeneral Biochemistry Genetics and Molecular BiologyPermeability03 medical and health sciencesGermline mutationTEK gene[SDV.BBM.GTP]Life Sciences [q-bio]/Biochemistry Molecular Biology/Genomics [q-bio.GN][ SDV.MHEP ] Life Sciences [q-bio]/Human health and pathologymedicine[SDV.MHEP.AHA]Life Sciences [q-bio]/Human health and pathology/Tissues and Organs [q-bio.TO]HumansAmino Acid SequenceGeneMucous MembraneCell-Lines[ SDV ] Life Sciences [q-bio]Base SequenceBiochemistry Genetics and Molecular Biology(all)[SDV.BDD.MOR]Life Sciences [q-bio]/Development Biology/MorphogenesisGermline and somatic DNA030104 developmental biologyFaceMutationCancer researchSkin AbnormalitiesAngiogenesisPathwayJournal of negative results in biomedicine
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Seafood Consumption, Omega-3 Fatty Acids Intake, and Life-Time Prevalence of Depression in the PREDIMED-Plus Trial.

2018

Background: The aim of this analysis was to ascertain the type of relationship between fish and seafood consumption, omega-3 polyunsaturated fatty acids (&omega

0301 basic medicineMaleeicosapentaenoic acidmodelos logísticoshumanosdepresiónencuestas sobre dietas0302 clinical medicineClinical trialsSurveys and QuestionnairesOdds RatioPrevalence030212 general & internal medicineDepressió psíquicamediana edadDietoteràpia2. Zero hungerancianoNutrition and Dieteticsintegumentary systemdietaDepressionEuropean researchFatty AcidsprevalenciaFishesfood and beveragesMiddle Ageddocosahexaenoic acidcociente de probabilidades relativasMental depressiondepressionChristian ministryFemaleomega-3lcsh:Nutrition. Foods and food supplyEuropean Regional Development Fundlcsh:TX341-641Àcids grassos omega-3Diet SurveysArticle03 medical and health sciencesalimentos del marDepression (economics)pecestrastorno depresivoEnvironmental healthPolitical scienceFatty Acids Omega-3ingesta energéticaOmega-3 fatty acidsAnimalsHumansácidos grasosAgedConsumption (economics)fishconducta alimentariaDepressive Disorder030109 nutrition & dieteticsDiet therapyLife timeFeeding BehaviorPredimedDietCross-Sectional StudiesLogistic ModelsSeafoodanimalesEnergy IntakeFood Scienceestudios transversalesAssaigs clínicsNutrients
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Bovine piRNA-like RNAs are associated with both transposable elements and mRNAs.

2017

PIWI proteins and their associated piRNAs have been the focus of intensive research in the past decade; therefore, their participation in the maintenance of genomic integrity during spermatogenesis has been well established. Recent studies have suggested important roles for the PIWI/piRNA system outside of gametogenesis, based on the presence of piRNAs and PIWI proteins in several somatic tissues, cancers, and the early embryo. Here, we investigated the small RNA complement present in bovine gonads, gametes, and embryos through next-generation sequencing. A distinct piRNA population was present in the testis as expected. However, we also found a large population of slightly shorter, 24–27 n…

0301 basic medicineMaleendocrine systemEmbryologySmall RNAPopulationPiwi-interacting RNABiologyTranscriptome03 medical and health sciencesEndocrinologyTestisAnimalsRNA MessengerSmall nucleolar RNARNA Small InterferingeducationSpermatogenesisAU-rich elementeducation.field_of_studyurogenital systemObstetrics and GynecologyRNACell BiologyFold changeCell biology030104 developmental biologyReproductive MedicineDNA Transposable ElementsOocytesCattleFemaleTranscriptomeReproduction (Cambridge, England)
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