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showing 10 items of 20610 documents

Characterization of the Clinical and Immunologic Phenotype and Management of 157 Individuals with 56 Distinct Heterozygous NFKB1 Mutations

2020

Contains fulltext : 229571.pdf (Publisher’s version ) (Closed access) BACKGROUND: An increasing number of NFKB1 variants are being identified in patients with heterogeneous immunologic phenotypes. OBJECTIVE: To characterize the clinical and cellular phenotype as well as the management of patients with heterozygous NFKB1 mutations. METHODS: In a worldwide collaborative effort, we evaluated 231 individuals harboring 105 distinct heterozygous NFKB1 variants. To provide evidence for pathogenicity, each variant was assessed in silico; in addition, 32 variants were assessed by functional in vitro testing of nuclear factor of kappa light polypeptide gene enhancer in B cells (NF-κB) signaling. RESU…

0301 basic medicineMaleNF-KAPPA-BMedizinlnfectious Diseases and Global Health Radboud Institute for Molecular Life Sciences [Radboudumc 4]Fluorescent Antibody TechniqueAutoimmunityDiseaseNUCLEAR-FACTORKaplan-Meier Estimatemedicine.disease_causeHypogammaglobulinemia0302 clinical medicineNFKB1 variants and mutations; autosomal dominant inheritance; common variable immunodeficiency; reduced penetrance; variable expressivityHDE PEDImmunology and Allergyvariants and mutationsNF-κB1-related phenotypeImmunodeficiencyIMMUNODEFICIENCY*NF-?B1-related phenotypeNFKB1 variants and mutations1184 Genetics developmental biology physiologycommon variable immunodeficiencyDisease ManagementMiddle AgedNF-kappa B1-related phenotypereduced penetrancePrognosisPenetranceImmunohistochemistryMagnetic Resonance Imaging3. Good healthPhenotypeNFKB1 variant*NFKB1 variant*common variable immunodeficiencyFemaleHaploinsufficiency*reduced penetranceNFKB1 mutationAdultHeterozygote*NFKB1 mutationImmunologyHAPLOINSUFFICIENCYArticle03 medical and health sciencesvariable expressivityautosomal dominantmedicineHumansGenetic Predisposition to DiseaseGenetic Association StudiesAgedbusiness.industryCommon variable immunodeficiencyNF-kappa B p50 SubunitNF-KAPPA-B1Immune dysregulationmedicine.diseaseautosomal dominant inheritance030104 developmental biologyBiological Variation PopulationImmunologyCELLSMutation*autosomal dominantPrimary immunodeficiency3111 BiomedicinebusinessTomography X-Ray ComputedBiomarkers030215 immunology
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Knockdown of Drosophila hemoglobin suggests a role in O2 homeostasis.

2016

Almost all insects are equipped with a tracheal system, which appears to be sufficient for O2 supply even in phases of high metabolic activity. Therefore, with the exception of a few species dwelling in hypoxic habitats, specialized respiratory proteins had been considered unnecessary in insects. The recent discovery and apparently universal presence of intracellular hemoglobins in insects has remained functionally unexplained. The fruitfly Drosophila melanogaster harbors three different globin genes (referred to as glob1-3). Glob1 is the most highly expressed globin and essentially occurs in the tracheal system and the fat body. To better understand the functions of insect globins, the lev…

0301 basic medicineMaleParaquatTransgenemedia_common.quotation_subjectInsectBiochemistry03 medical and health sciencesHemoglobinsRNA interferenceAnimalsDrosophila ProteinsHomeostasisGlobinMolecular Biologymedia_commonGeneticschemistry.chemical_classificationGene knockdownReactive oxygen speciesbiologyfungiGene Expression Regulation Developmentalbiology.organism_classificationCell biologyGlobinsOxygenOxidative Stress030104 developmental biologyDrosophila melanogasterchemistryInsect ScienceGene Knockdown TechniquesLarvaFemaleRNA InterferenceDrosophila melanogasterReactive Oxygen SpeciesHomeostasisInsect biochemistry and molecular biology
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Interim 2017/18 influenza seasonal vaccine effectiveness: combined results from five European studies

2018

Between September 2017 and February 2018, influenza A(H1N1)pdm09, A(H3N2) and B viruses (mainly B/Yamagata, not included in 2017/18 trivalent vaccines) co-circulated in Europe. Interim results from five European studies indicate that, in all age groups, 2017/18 influenza vaccine effectiveness was 25 to 52% against any influenza, 55 to 68% against influenza A(H1N1)pdm09, -42 to 7% against influenza A(H3N2) and 36 to 54% against influenza B. 2017/18 influenza vaccine should be promoted where influenza still circulates. Funding: The five studies have received funding from the European Union’s Horizon 2020 research and innovation programme under grant agreement No 634446 to conduct the study in…

0301 basic medicineMalePediatricsEpidemiologyvirusesInfluenza B viruinfluenza ; influenza vaccine effectiveness ; influenza vaccination ; case control study ; multicentre study ; EuropeEurope case control study influenza influenza vaccination influenza vaccine effectiveness multicentre study0302 clinical medicineInfluenza A Virus H1N1 Subtype[SDV.MHEP.MI]Life Sciences [q-bio]/Human health and pathology/Infectious diseasesInteriminfluenza vaccine effectivenessEpidemiologyPandemicInfluenza A Virus030212 general & internal medicineQAInfluenza vaccine effectivenessChildmedia_commonVaccine EffectivenessVaccinationvirus diseasesMiddle Agedinfluenza vaccinationmulticentre study3. Good healthVaccinationEuropeTreatment OutcomeInfluenza VaccinesChild PreschoolH3N2 SubtypeFemaleSeasonsInfluenza VaccineinfluenzaRapid CommunicationHumanAdultRMmedicine.medical_specialtyAdolescentInfluenza vaccine030106 microbiologyCase control studyMulticentre studyEuropean studiesSettore MED/07 - MICROBIOLOGIA E MICROBIOLOGIA CLINICA03 medical and health sciencesVirologyInfluenza Humanmedicinemedia_common.cataloged_instanceHumansH1N1 SubtypeVacina AntigripalEuropean UnionEuropean unionPreschoolPandemicsAgedPandemicInfluenza A Virus H3N2 SubtypeCuidados de SaúdePublic Health Environmental and Occupational HealthInfant NewbornInfantInfluenza ainfluenza vaccine effectivenecase control studyNewbornEurope; case control study; influenza; influenza vaccination; influenza vaccine effectiveness; multicentre studyInfluenzarespiratory tract diseasesInfluenza vaccinationInfluenza B virusEurope; case control study; influenza; influenza vaccination; influenza vaccine effectiveness; multicentre study; Adolescent; Adult; Aged; Child; Child Preschool; Europe; European Union; Female; Humans; Infant; Infant Newborn; Influenza A Virus H1N1 Subtype; Influenza A Virus H3N2 Subtype; Influenza B virus; Influenza Vaccines; Influenza Human; Male; Middle Aged; Pandemics; Treatment Outcome; Vaccination; Seasons[SDV.SPEE]Life Sciences [q-bio]/Santé publique et épidémiologieDeterminantes da Saúde e da Doença[SDV.IMM.VAC]Life Sciences [q-bio]/Immunology/Vaccinology
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A novel intracellular mutualistic bacterium in the invasive ant Cardiocondyla obscurior.

2016

The evolution of eukaryotic organisms is often strongly influenced by microbial symbionts that confer novel traits to their hosts. Here we describe the intracellular Enterobacteriaceae symbiont of the invasive ant Cardiocondyla obscurior, 'Candidatus Westeberhardia cardiocondylae'. Upon metamorphosis, Westeberhardia is found in gut-associated bacteriomes that deteriorate following eclosion. Only queens maintain Westeberhardia in the ovarian nurse cells from where the symbionts are transmitted to late-stage oocytes during nurse cell depletion. Functional analyses of the streamlined genome of Westeberhardia (533 kb, 23.41% GC content) indicate that neither vitamins nor essential amino acids a…

0301 basic medicineMalePhenylpyruvic Acidsmedia_common.quotation_subjectMicrobiologyGenomeNurse cellMicrobiology03 medical and health sciencesShikimate pathwayAnimalsMetamorphosisSymbiosisEcology Evolution Behavior and SystematicsPhylogenymedia_commonGeneticsbiologyBacteriaHost (biology)Antsfungibiochemical phenomena metabolism and nutritionbiology.organism_classificationEnterobacteriaceaeANT030104 developmental biologyCandidatusFemaleOriginal ArticleThe ISME journal
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Adolescent sugar-sweetened beverage consumption: An extended Health Action Process Approach.

2019

Abstract Objective Consumption of excess added sugar in the form of sugar-sweetened beverages (SSBs) contributes to a wide range of health concerns in adolescents. Identification of modifiable determinants of SSB consumption based on behavioral theory may inform development of interventions aimed at reducing SSB consumption. The aim of the current study was to test the efficacy of an extended version of the Health Action Process Approach to predict adolescent SSB consumption. Methods Using a prospective design, adolescent students (N = 450) self-reported their outcome expectancies, perceived behavioral control, intentions, habit, action, maintenance, and recovery self-efficacy, action and c…

0301 basic medicineMalePsychological interventionIntentionDevelopmental psychologyravitsemuskäyttäytyminen0302 clinical medicinenuoretsokeriProspective StudiesGeneral Psychologymedia_commonSugar-Sweetened BeveragesPediatricNutrition and DieteticsSelf EfficacyLatent Class AnalysisFemaleYoung peoplePsychologyPsychological TheoryAdolescentmedia_common.quotation_subjectDrinking Behavior030209 endocrinology & metabolismAdded sugarStructural equation modeling03 medical and health sciencesFood PreferencesComplementary and Alternative MedicineMD MultidisciplinarySugar intakeBehavioral and Social ScienceComplementary and Integrative HealthHumansHealth Action Process ApproachConsumption (economics)030109 nutrition & dieteticsNutrition & DieteticsHealth action process approachEducational psychologyDietstomatognathic diseasesGood Health and Well BeingAction (philosophy)Adolescent BehaviorterveyskäyttäytyminenvirvoitusjuomatHabitSelf Report
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Passive exposure to speech sounds induces long-term memory representations in the auditory cortex of adult rats

2016

AbstractExperience-induced changes in the functioning of the auditory cortex are prominent in early life, especially during a critical period. Although auditory perceptual learning takes place automatically during this critical period, it is thought to require active training in later life. Previous studies demonstrated rapid changes in single-cell responses of anesthetized adult animals while exposed to sounds presented in a statistical learning paradigm. However, whether passive exposure to sounds can form long-term memory representations remains to be demonstrated. To investigate this issue, we first exposed adult rats to human speech sounds for 3 consecutive days, 12 h/d. Two groups of …

0301 basic medicineMaleSTIMULUS-SPECIFIC ADAPTATIONLong-Term PotentiationMismatch negativityAudiologyMAGNITUDE0302 clinical medicineauditory cortexPLASTICITYBRAINta515media_commonSound (medical instrument)MultidisciplinaryLong-term memorySoundPsychologymedicine.medical_specialtyMISMATCH NEGATIVITY MMN515 Psychologymedia_common.quotation_subjectEVENT-RELATED POTENTIALSFREQUENCYAuditory cortexta3112Article03 medical and health scienceslong-term memoryEvent-related potentialPerceptual learningMemoryPerceptionmedicineotorhinolaryngologic diseasesAnimalsSpeechRats WistarAuditory CortexPERCEPTIONpassive exposure3112 Neuroscienceshuman speechsäilömuistiRatsratsElectrophysiology030104 developmental biologyDISCRIMINATION030217 neurology & neurosurgeryRESPONSESScientific Reports
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Biomarkers for vascular ageing in aorta tissues and blood samples.

2019

Abstract Objectives Functional and quantitative alterations and senescence of circulating and expanded endothelial progenitor cells (EPC), as well as systemic and tissue modifications of angiogenetic and inflammatory molecules, were evaluated for predicting age-related vessel wall remodeling, correlating them to intima media thickness (IMT) in the common carotid artery (CCA), a biomarker of early cardiovascular disease and aortic root dilation. Populations and methods A homogenous Caucasian population was included in the study, constituted by 160 healthy subjects (80 old subjects, mean age 72 ± 6.4, range 66–83 years; and 80 younger blood donors, mean age 26.2 ± 3.4, range 21–33 years), and…

0301 basic medicineMaleVascular Endothelial Growth Factor AAgingPhysiologySystemic inflammationBiochemistryCarotid Intima-Media Thickness0302 clinical medicineEndocrinologySA-β-Gal activityp21 and p16 genesMedicineTP53Receptor Notch1AortaEndothelial Progenitor CellsAged 80 and overeducation.field_of_studyChemotaxisInflammatory cytokinesmedicine.anatomical_structurecardiovascular systemBiomarker (medicine)Femalemedicine.symptomTP53 p21 and p16 genesSenescenceAdultEndotheliumInflammatory cytokineNotch and TLR4Carotid Artery CommonPopulationProinflammatory cytokine03 medical and health sciencesYoung AdultTP53 p21 and p16 genemedicine.arteryGeneticsHumansEPC cell populationeducationMolecular BiologyEPC cell populationsAgedAortabusiness.industryEndothelium age-related impairmentCell BiologyChemokine CXCL12Toll-Like Receptor 4EPC cell populations; Endothelium age-related impairment; Inflammatory cytokines; Notch and TLR4; SA-β-Gal activity; TP53 p21 and p16 genesSettore MED/23030104 developmental biologyIntima-media thicknessbusiness030217 neurology & neurosurgeryBiomarkersExperimental gerontology
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Is harsh caregiving effective in toddlers with low inhibitory control? An experimental study in the food domain

2016

International audience; The aim of our study is to evaluate the validity of the "Caregiving x Temperament Paradigm" in the food domain. In this study, two prototypes of caregiving,control have been contrasted: Harsh (forceful measures to curve the child's behavior) versus Gentle control (supportive measures to direct the child's behavior). In food domain, the most effective control to help a child to overcome initial dislike is repeated exposure. Our first objective was to test whether the repeated exposure displayed in a gentle context has a more benefical effect on dislike shifting than the one displayed in a harsh context. Our second objective was to assess whether this effect was modera…

0301 basic medicineMale[ SDV.AEN ] Life Sciences [q-bio]/Food and Nutritionmedia_common.quotation_subjectChild BehaviorContext (language use)effortful controlDevelopmental psychology03 medical and health sciencesFood PreferencesFeeding behaviorpreschool-childrenSurveys and QuestionnairesInhibitory controlDevelopmental and Educational PsychologyHumans0501 psychology and cognitive sciencesChild CareInhibitory controlTemperamentparental controlFood maternal feeding practicesDifficult temperamentmedia_commonEmotionChild care030109 nutrition & dieteticsexternalizing problems05 social sciencesdifficult temperamentInfantValidated questionnaireFeeding BehaviorInhibition Psychologicalvegetable consumptionCaregiversdifferential susceptibilityrepeated exposureChild PreschoolCaregivingenvironmental-influencesTemperamentFemalePsychology[SDV.AEN]Life Sciences [q-bio]/Food and Nutrition050104 developmental & child psychologyParental control
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Behavioral and Cortical Correlates of Self-Suppression, Anticipation, and Ambivalence in Rat Tickling.

2019

The relationship between tickling, sensation, and laughter is complex. Tickling or its mere anticipation makes us laugh, but not when we self-tickle. We previously showed rat somatosensory cortex drives tickling-evoked vocalizations and now investigated self-tickle suppression and tickle anticipation. We recorded somatosensory cortex activity while tickling and touching rats and while rats touched themselves. Allo-touch and tickling evoked somatotopic cortical excitation and vocalizations. Self-touch induced wide-ranging inhibition and vocalization suppression. Self-touch also suppressed vocalizations and cortical responses evoked by allo-touch or cortical microstimulation. We suggest a glo…

0301 basic medicineMalemedia_common.quotation_subjectBiologySomatosensory systemGeneral Biochemistry Genetics and Molecular BiologyLaughter03 medical and health sciences0302 clinical medicineSensationmedicineMicrostimulationAnimalsRats Long-Evansmedia_commonTicklingSomatosensory CortexAnticipationRatsAffect030104 developmental biologyTouch PerceptionTouchGabazineGABAergicGeneral Agricultural and Biological SciencesNeuroscience030217 neurology & neurosurgerymedicine.drugCurrent biology : CB
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Spinal plasticity with motor imagery practice.

2019

KEY POINTS: While a consensus has now been reached on the effect of motor imagery (MI) – the mental simulation of an action – on motor cortical areas, less is known about its impact on spinal structures. The current study, using H‐reflex conditioning paradigms, examined the effect of a 20 min MI practice on several spinal mechanisms of the plantar flexor muscles. We observed modulations of spinal presynaptic circuitry while imagining, which was even more pronounced following an acute session of MI practice. We suggested that the small cortical output generated during MI may reach specific spinal circuits and that repeating MI may increase the sensitivity of the spinal cord to its effects. T…

0301 basic medicineMalemental-imageryPhysiologypathwaysStimulationIsometric exerciseD1 presynaptic inhibitionSynaptic TransmissionH-Reflex0302 clinical medicineNeuronal PlasticityMotor Cortexmodulationmedicine.anatomical_structureSpinal Cordtriceps surae[SDV.NEU]Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC]FemaleFemoral NerveMuscle ContractionAdultia afferentsheteronymous Ia facilitationMovementSensory systemfacilitation03 medical and health sciencesMotor imageryexcitabilityNeuroplasticitymedicineHumansNeurons AfferentMuscle Skeletalsoleusinterneuronsbusiness.industryPeroneal NerveNeural Inhibitionpresynaptic inhibitionSpinal cordElectric StimulationSpine030104 developmental biologyactivationH-reflexbusinessNeuroscience030217 neurology & neurosurgeryCommon peroneal nerveNeuroscienceThe Journal of physiology
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