Search results for "DM"

showing 10 items of 8932 documents

The population genomics of archaeological transition in west Iberia: Investigation of ancient substructure using imputation and haplotype-based metho…

2017

We analyse new genomic data (0.05–2.95x) from 14 ancient individuals from Portugal distributed from the Middle Neolithic (4200–3500 BC) to the Middle Bronze Age (1740–1430 BC) and impute genomewide diploid genotypes in these together with published ancient Eurasians. While discontinuity is evident in the transition to agriculture across the region, sensitive haplotype-based analyses suggest a significant degree of local hunter-gatherer contribution to later Iberian Neolithic populations. A more subtle genetic influx is also apparent in the Bronze Age, detectable from analyses including haplotype sharing with both ancient and modern genomes, D-statistics and Y-chromosome lineages. However, t…

0301 basic medicineMaleCancer ResearchHistoryHereditySteppePopulation geneticsGenetic LinkagePopulation geneticsStone AgeSocial SciencesQH426-470Population genomics0302 clinical medicineddc:590Databases GeneticGenetics(clinical)Sequencing dataGenetics (clinical)MigrationGenetics0303 health sciencesgeography.geographical_feature_categoryGenomeAncient DNAGeographyPaleogeneticsGeologyGenomicsCChumanitiesPositive selectionEuropeGenetic MappingPhylogeographyGeographyBiogeographyArchaeologyNeolithic PeriodlanguageFemaleResearch Articlelcsh:QH426-470GenotypeIntrogressionVariant GenotypesAdmixtureBiologyInsightsAssociation03 medical and health sciencesAgeBronze AgeGeneticsHumansGenetic variationQH426Molecular BiologyEcology Evolution Behavior and Systematics030304 developmental biologyEvolutionary BiologyChromosomes Human YHuman genomePopulation BiologyPortugalGenome HumanHaplotypeEcology and Environmental SciencesBiology and Life SciencesPaleontologyGenetic VariationGeologic TimeDnaSequence Analysis DNAArchaeologylanguage.human_languagePhylogeographylcsh:Genetics030104 developmental biologyAncient DNAGenetics PopulationHaplotypesEvolutionary biologyEarth SciencesIberiaPortuguesePaleogenetics030217 neurology & neurosurgeryImputation (genetics)Population GeneticsPLoS Genetics
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Blockade of nitric oxide signalling promotes resilience to the effects of social defeat stress on the conditioned rewarding properties of MDMA in mice

2020

Abstract MDMA abuse continues being a serious problem in our society. Environmental factors, such as stress, increase the vulnerability of individuals to develop drug abuse and we have observed that exposure to social defeat (SD) stress alters the sensitivity of mice to the rewarding effects of MDMA in the conditioned place preference (CPP) paradigm. In the present study, we evaluated the role of the nitric oxide (NO) pathway in the effects of SD on the rewarding properties of MDMA. Three groups of mice were treated with an inhibitor of NO synthesis, 7-nitroindazole (0, 7.25 and 12.5 mg/kg), before each exposure to SD and place conditioning with MDMA (1.25 mg/kg) on PND 54, 56, 58, and 60. …

0301 basic medicineMaleCancer Researchmedicine.medical_specialty7-NitroindazoleIndazolesMDMAPhysiologyN-Methyl-34-methylenedioxyamphetamineClinical BiochemistryHippocampusMice Inbred StrainsStriatum030204 cardiovascular system & hematologyNitric OxideBiochemistrySocial defeat03 medical and health scienceschemistry.chemical_compoundMice0302 clinical medicineSocial defeatInternal medicineConditioning Psychologicalmental disordersmedicineAnimalsPrefrontal cortex7-NitroindazoleSocial stressDose-Response Relationship Drugbusiness.industryMDMANitric oxideConditioned place preferenceConditioned place preference030104 developmental biologyEndocrinologychemistrybusinessStress Psychologicalpsychological phenomena and processesmedicine.drugSignal Transduction
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A phase I dose-escalation study of IMAB362 (Zolbetuximab) in patients with advanced gastric and gastro-oesophageal junction cancer

2018

Introduction IMAB362 (Zolbetuximab) is a chimeric monoclonal antibody that binds to Claudin-18.2, a target antigen specific to cancer cells. In vitro, IMAB362 mediates cell death through antibody-dependent cellular cytotoxicity and complement-dependent cytotoxicity; thus, IMAB362 may serve as a potent, targeted immunotherapeutic agent. Methods This first-in-human phase I study enroled adult patients (N = 15) with advanced gastric or gastro-oesophageal junction cancer into five sequential single dose-escalation cohorts (33, 100, 300, 600, and 1000 mg/m2) following a 3 + 3 design. Safety/tolerability, including determination of maximum tolerated dose and recommended phase II dose, were the pr…

0301 basic medicineMaleCancer Researchmedicine.medical_specialtyTime FactorsEsophageal NeoplasmsMaximum Tolerated Dosemedicine.medical_treatmentMedizinGastroenterologyAntibodies Monoclonal/administration & dosage03 medical and health sciences0302 clinical medicineAntineoplastic Agents ImmunologicalPharmacokineticsAntineoplastic Agents Immunological/administration & dosageStomach NeoplasmsInternal medicineGermanymedicineHumansDrug Dosage CalculationsAdverse effectInfusions IntravenousAgedbusiness.industryCancerAntibodies MonoclonalEsophagogastric Junction/drug effectsImmunotherapyMiddle Agedmedicine.diseaseLatviaddc:030104 developmental biologyTreatment OutcomeOncologyTolerabilityResponse Evaluation Criteria in Solid Tumors030220 oncology & carcinogenesisToxicityDisease ProgressionFemaleStomach Neoplasms/drug therapyEsophagogastric JunctionEsophageal Neoplasms/drug therapybusinessProgressive disease
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Intranasal Administration of Extracellular Vesicles Derived from Human Teeth Stem Cells Improves Motor Symptoms and Normalizes Tyrosine Hydroxylase E…

2018

Abstract Parkinson's disease (PD) is the second most common neurodegenerative disorder affecting millions of people worldwide. At present, there is no effective cure for PD; treatments are symptomatic and do not halt progression of neurodegeneration. Extracellular vesicles (EVs) can cross the blood–brain barrier and represent promising alternative to the classical treatment strategies. In the present study, we examined therapeutic effects of intranasal administration of EVs derived from human exfoliated deciduous teeth stem cells (SHEDs) on unilateral 6-hydroxydopamine (6-OHDA) medial forebrain bundle (MFB) rat model of PD. CatWalk gait tests revealed that EVs effectively suppressed 6-OHDA-…

0301 basic medicineMaleCell signalingParkinson's diseaseParkinson's diseaseStriatumPharmacology0302 clinical medicineMedicineMedial forebrain bundleAdult stem cellsStem CellsNeurodegenerationParkinson DiseaseGeneral MedicineAnimal modelsSubstantia NigraDifferentiationmedicine.symptom:MEDICINE::Physiology and pharmacology::Pharmacological research [Research Subject Categories]Tyrosine 3-MonooxygenaseCellular therapySubstantia nigraLesion03 medical and health sciencesExtracellular VesiclesMicroscopy Electron TransmissionTissue Engineering and Regenerative MedicineAnimalsHumansRats WistarOxidopamineAdministration IntranasalAgedHydroxydopamineTyrosine hydroxylasebusiness.industryCell Biologymedicine.diseaseCorpus StriatumRatsDisease Models Animal030104 developmental biologynervous systemMesenchymal stem cellsbusinessTooth030217 neurology & neurosurgeryDevelopmental BiologyStem cells translational medicine
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Fast direct neuronal signaling via the IL-4 receptor as therapeutic target in neuroinflammation.

2018

Ongoing axonal degeneration is thought to underlie disability in chronic neuroinflammation, such as multiple sclerosis (MS), especially during its progressive phase. Upon inflammatory attack, axons undergo pathological swelling, which can be reversible. Because we had evidence for beneficial effects of T helper 2 lymphocytes in experimental neurotrauma and discovered interleukin-4 receptor (IL-4R) expressed on axons in MS lesions, we aimed at unraveling the effects of IL-4 on neuroinflammatory axon injury. We demonstrate that intrathecal IL-4 treatment during the chronic phase of several experimental autoimmune encephalomyelitis models reversed disease progression without affecting inflamma…

0301 basic medicineMaleEncephalomyelitis Autoimmune ExperimentalMultiple SclerosisEncephalomyelitisInflammation03 medical and health sciencesMice0302 clinical medicinemedicineAnimalsHumansAxonReceptorNeuroinflammationAdministration IntranasalInflammationNeuronsbusiness.industryMultiple sclerosisExperimental autoimmune encephalomyelitisTranslation (biology)General Medicinemedicine.diseaseAxonsReceptors Interleukin-4030104 developmental biologymedicine.anatomical_structurenervous systemInterleukin-4medicine.symptombusinessNeuroscience030217 neurology & neurosurgeryLocomotionScience translational medicine
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A Predictive Model of the Prevalence of Delirium in Elderly Subjects Admitted to Nursing Homes.

2017

INTRODUCTION Delirium is common in geriatric patients admitted to nursing homes, with an incidence of 22-79% among long-term residents. AIM To establish a predictive model of the risk of delirium episodes in a sample of elderly people living in nursing homes. MATERIAL AND METHODS A retrospective, cross-sectional case-control study covering a period of 12 consecutive months (April 2014 - March 2015) was carried out. The included cases had suffered at least one episode of delirium during the study period. Sociodemographic and clinical variables as well as risk factors predisposing to or triggering episodes of delirium were recorded. RESULTS A total of 193 cases and 123 controls were recruited…

0301 basic medicineMaleEndocrinology Diabetes and MetabolismUrinary incontinenceCholinergic Antagonists0302 clinical medicinePatient AdmissionRisk FactorsOdds RatioPrevalenceImmunology and AllergyHomes for the AgedDepression (differential diagnoses)Aged 80 and overDepressionIncidence (epidemiology)Area under the curveAge FactorsArea Under CurveFemalemedicine.symptommedicine.medical_specialtymedicine.drug_classUrinary systemCommunicable Diseases03 medical and health sciencesInternal medicinemedicineAnticholinergicDementiaHumansIntensive care medicineGeriatric AssessmentRetrospective StudiesChi-Square Distributionbusiness.industryDeliriummedicine.diseaseNursing HomesAffect030104 developmental biologyCross-Sectional StudiesLogistic ModelsUrinary IncontinenceROC CurveSpainDeliriumDementiabusiness030217 neurology & neurosurgeryEndocrine, metabolicimmune disorders drug targets
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Shared language, diverging genetic histories: high-resolution analysis of Y-chromosome variability in Calabrian and Sicilian Arbereshe.

2015

The relationship between genetic and linguistic diversification in human populations has been often explored to interpret some specific issues in human history. The Albanian-speaking minorities of Sicily and Southern Italy (Arbereshe) constitute an important portion of the ethnolinguistic variability of Italy. Their linguistic isolation from neighboring Italian populations and their documented migration history, make such minorities particularly effective for investigating the interplay between cultural, geographic and historical factors. Nevertheless, the extent of Arbereshe genetic relationships with the Balkan homeland and the Italian recipient populations has been only partially investi…

0301 basic medicineMaleGenetics; Genetics (clinical)PopulationY-chromosome variabilityPopulationSettore BIO/08 - ANTROPOLOGIAPopulation geneticsGenetic admixtureHomelandgenetics (clinical)Diversification (marketing strategy)Population stratificationChromosomesArticle03 medical and health sciencesGeneticModelsGenetic variationHumansgeneticseducationLanguageeducation.field_of_studygenetics (clinical); geneticsChromosomes Human YY chromosomeModels GeneticMediterranean Regionpopulation geneticsGenetic Variationlanguage.human_languageY-ChromosomeChromosomes Human Y; Female; Humans; Italy; Male; Mediterranean Region; Pedigree; Population; Genetic Variation; Language; Models GeneticPedigreeHuman Population Genetics Y chromosome Arbereshe linguistic minorities genetic isolates admixture simulations micro-evolutionary history Southern Italy030104 developmental biologyGeographyItalyEvolutionary biologylanguageArbereshe linguistic minorityArbreshFemaleSicilianSicily and CalabriaYHumanEuropean journal of human genetics : EJHG
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De Novo and Inherited Pathogenic Variants in KDM3B Cause Intellectual Disability, Short Stature, and Facial Dysmorphism

2019

Contains fulltext : 202646.pdf (Publisher’s version ) (Open Access) By using exome sequencing and a gene matching approach, we identified de novo and inherited pathogenic variants in KDM3B in 14 unrelated individuals and three affected parents with varying degrees of intellectual disability (ID) or developmental delay (DD) and short stature. The individuals share additional phenotypic features that include feeding difficulties in infancy, joint hypermobility, and characteristic facial features such as a wide mouth, a pointed chin, long ears, and a low columella. Notably, two individuals developed cancer, acute myeloid leukemia and Hodgkin lymphoma, in childhood. KDM3B encodes for a histone …

0301 basic medicineMaleJumonji Domain-Containing Histone DemethylasesDevelopmental DisabilitiesWEAVER SYNDROMEPROTEINHaploinsufficiencyCraniofacial AbnormalitiesHistones0302 clinical medicineIntellectual disabilityTumours of the digestive tract Radboud Institute for Molecular Life Sciences [Radboudumc 14]Missense mutationDEMETHYLASE KDM3BExomeChildGenetics (clinical)Exome sequencingGeneticsRUBINSTEIN-TAYBI SYNDROMEMetabolic Disorders Radboud Institute for Molecular Life Sciences [Radboudumc 6]Phenotype030220 oncology & carcinogenesisFemalemedicine.symptomHaploinsufficiencyRare cancers Radboud Institute for Health Sciences [Radboudumc 9]Joint hypermobilityGENETICSJMJD1CMutation MissenseDwarfismBiologyShort statureKdm3b ; Cancer Predisposition ; Developmental Delay ; Facial Recognition ; Intellectual Disability ; Leukemia ; Lymphoma ; Short Stature03 medical and health sciencesReportIntellectual DisabilitymedicineHumansMYELOID-LEUKEMIAGenetic Association StudiesGerm-Line MutationWeaver syndromeNeurodevelopmental disorders Donders Center for Medical Neuroscience [Radboudumc 7]Rubinstein–Taybi syndromeMUTATIONSDELETIONGenetic Variationmedicine.diseaseBody HeightMusculoskeletal AbnormalitiesINDIVIDUALS030104 developmental biologyFaceNanomedicine Radboud Institute for Molecular Life Sciences [Radboudumc 19]American Journal of Human Genetics
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Heterozygous Variants in KDM4B Lead to Global Developmental Delay and Neuroanatomical Defects

2020

International audience; KDM4B is a lysine-specific demethylase with a preferential activity on H3K9 tri/di-methylation (H3K9me3/2)-modified histones. H3K9 tri/di-demethylation is an important epigenetic mechanism responsible for silencing of gene expression in animal development and cancer. However, the role of KDM4B on human development is still poorly characterized. Through international data sharing, we gathered a cohort of nine individuals with mono-allelic de novo or inherited variants in KDM4B. All individuals presented with dysmorphic features and global developmental delay (GDD) with language and motor skills most affected. Three individuals had a history of seizures, and four had a…

0301 basic medicineMaleJumonji Domain-Containing Histone Demethylases[SDV]Life Sciences [q-bio]Developmental DisabilitiesCorpus callosumHippocampusEpigenesis GeneticHistonesMice0302 clinical medicineNeurodevelopmental disorderPolymicrogyriaGlobal developmental delayAgenesis of the corpus callosumGenetics (clinical)BrainMagnetic Resonance Imaging[SDV] Life Sciences [q-bio]intellectual disabilityBrain sizeFemaledysmorphic hippocampiSignal TransductionHeterozygoteheterozygous variantglobal developmental delayBiologyNervous System MalformationsMethylation03 medical and health sciencesSeizuresReportKDM4BGeneticsmedicineAnimalsHumansneurodevelopmental disorder.Dentate gyrusGenetic VariationJMJD2Bmedicine.diseaseneurodevelopmental disorder030104 developmental biologyagenesis of the corpus callosumNeuroscienceProtein Processing Post-Translational030217 neurology & neurosurgeryVentriculomegalyAmerican journal of human genetics
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Dietary Magnesium and Incident Frailty in Older People at Risk for Knee Osteoarthritis: An Eight-Year Longitudinal Study.

2017

Inadequate magnesium (Mg) intake is associated with lower physical performance, but the relationship with frailty in older people is unclear. Therefore, we aimed to investigate whether higher dietary Mg intake is associated with a lower risk of frailty in a large cohort of North American individuals. Details regarding Mg intake were recorded through a food-frequency questionnaire (FFQ) and categorized as greater than/equal to Recommended Dietary Allowance (RDA) vs. lower. Frailty was defined using the Study of Osteoporotic Fractures index. Multivariable Cox’s regression analyses, calculating hazard ratios (HRs) with 95% confidence intervals (CIs), were undertaken by sex. In total, 4421 in…

0301 basic medicineMaleLongitudinal studymedicine.medical_specialtySettore MED/09 - Medicina InternaFrail ElderlyOsteoarthritis Initiative; frailty; magnesium; older adultslcsh:TX341-641OsteoarthritisfrailtymagnesiumLower riskRecommended Dietary AllowancesArticle03 medical and health sciences0302 clinical medicineRisk FactorsInternal medicinemedicineHumans030212 general & internal medicineLongitudinal StudiesOlder adultolder adultsAgedMagnesium/administration & dosage030109 nutrition & dieteticsNutrition and Dieteticsbusiness.industryConfoundingHazard ratioOsteoarthritis Knee/etiologyfrailty; magnesium; older adults; Osteoarthritis InitiativeMiddle AgedOsteoarthritis Kneemedicine.diseaseConfidence intervalDietFrailty; Magnesium; Older adults; Osteoarthritis Initiative; Food Science; Nutrition and DieteticsDietary Reference IntakeOsteoarthritis InitiativePhysical therapyFemaleOlder peoplebusinesslcsh:Nutrition. Foods and food supplyFood ScienceNutrients
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