Search results for "EFE"

showing 10 items of 5785 documents

Dominant variants in the splicing factor PUF60 cause a recognizable syndrome with intellectual disability, heart defects and short stature

2016

Item does not contain fulltext Verheij syndrome, also called 8q24.3 microdeletion syndrome, is a rare condition characterized by ante- and postnatal growth retardation, microcephaly, vertebral anomalies, joint laxity/dislocation, developmental delay (DD), cardiac and renal defects and dysmorphic features. Recently, PUF60 (Poly-U Binding Splicing Factor 60 kDa), which encodes a component of the spliceosome, has been discussed as the best candidate gene for the Verheij syndrome phenotype, regarding the cardiac and short stature phenotype. To date, only one patient has been reported with a de novo variant in PUF60 that probably affects function (c.505C>T leading to p.(His169Tyr)) associated wi…

0301 basic medicineMaleMESH: Heart Defects Congenital / physiopathologyMicrocephalyPathologyMESH: Heart Defects Congenital / geneticsMESH: Exome / genetics030105 genetics & heredityMESH: RNA Splicing / geneticsMicrophthalmia[SDV.MHEP.MI]Life Sciences [q-bio]/Human health and pathology/Infectious diseasesMESH: ChildExomeMESH: RNA Splicing Factors / geneticsChildFrameshift MutationMESH: High-Throughput Nucleotide SequencingGenetics (clinical)Exome sequencingColobomaMESH: Frameshift MutationHigh-Throughput Nucleotide SequencingMicrodeletion syndromeMicrocephaly Verheij syndrome PUF60ChemistryPhenotypeChild PreschoolDISEASESMicrocephalyMedical geneticsFemaleRNA Splicing Factorsmedicine.symptomChromosome DeletionChromosomes Human Pair 8MESH: Dwarfism / genetics*Heart Defects Congenitalmedicine.medical_specialtyGENESAdolescentRNA SplicingMESH: Chromosome DeletionDwarfismBiologyMESH: PhenotypeShort statureArticlePUF6003 medical and health sciencesInternal medicineIntellectual Disability[ SDV.MHEP ] Life Sciences [q-bio]/Human health and pathologyGeneticsmedicineHumansCraniofacialBiologyMESH: AdolescentNeurodevelopmental disorders Donders Center for Medical Neuroscience [Radboudumc 7]MESH: HumansMESH: Child Preschoolmedicine.diseaseMESH: Repressor Proteins / geneticsMESH: MaleRepressor Proteins030104 developmental biologyEndocrinologyMESH: Chromosomes Human Pair 8 / geneticsMESH: Dwarfism / physiopathologyMESH: Intellectual Disability / physiopathologyHuman medicineMESH: Intellectual Disability / geneticsVerheij syndromeMESH: Female[SDV.MHEP]Life Sciences [q-bio]/Human health and pathology
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Social stress during adolescence activates long-term microglia inflammation insult in reward processing nuclei

2018

The experience of social stress during adolescence is associated with higher vulnerability to drug use. Increases in the acquisition of cocaine self-administration, in the escalation of cocaine-seeking behavior, and in the conditioned rewarding effects of cocaine have been observed in rodents exposed to repeated social defeat (RSD). In addition, prolonged or severe stress induces a proinflammatory state with microglial activation and increased cytokine production. The aim of the present work was to describe the long-term effects induced by RSD during adolescence on the neuroinflammatory response and synaptic structure by evaluating different glial and neuronal markers. In addition to an inc…

0301 basic medicineMaleMacroglial CellsHippocampuslcsh:MedicineSocial SciencesCell CountPathology and Laboratory MedicineHippocampusSocial defeatMice0302 clinical medicineCocaineAnimal CellsConditioning PsychologicalMedicine and Health SciencesPsychologylcsh:ScienceImmune ResponseNeuronsMultidisciplinaryMicrogliaAnimal BehaviorBrainChemistrymedicine.anatomical_structureBehavioral PharmacologyAnimal SocialityPhysical SciencesMicrogliamedicine.symptomCellular TypesAnatomyResearch ArticleInfralimbic cortexImmunologyPsychological StressInflammationGlial CellsNucleus accumbensProinflammatory cytokine03 medical and health sciencesAlkaloidsSigns and SymptomsRewardDiagnostic MedicineRecreational Drug UseMental Health and PsychiatrymedicineAnimalsMicroglial CellsSocial stressPharmacologyInflammationBehaviorbusiness.industrylcsh:RChemical CompoundsBiology and Life SciencesCell Biology030104 developmental biologyAstrocytesCellular Neurosciencelcsh:QbusinessNeuroscienceZoology030217 neurology & neurosurgeryStress PsychologicalNeuroscience
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Maternal Inheritance of a Recessive RBP4 Defect in Canine Congenital Eye Disease

2018

SUMMARY Maternally skewed transmission of traits has been associated with genomic imprinting and oocyte-derived mRNA. We report canine congenital eye malformations, caused by an amino acid deletion (K12del) near the N terminus of retinol-binding protein (RBP4). The disease is only expressed when both dam and offspring are deletion homozygotes. RBP carries vitamin A (retinol) from hepatic stores to peripheral tissues, including the placenta and developing eye, where it is required to synthesize retinoic acid. Gestational vitamin A deficiency is a known risk factor for ocular birth defects. The K12del mutation disrupts RBP folding in vivo, decreasing its secretion from hepatocytes to serum. T…

0301 basic medicineMaleNon-Mendelian inheritanceProtein Foldingcongenital eye defectEye Diseasesgenetic structuresNATIVE DISULFIDE BONDSMedical PhysiologyRetinoic acidReproductive health and childbirth413 Veterinary scienceMicrophthalmiavitamin Achemistry.chemical_compoundPlasmaA-vitamiini2.1 Biological and endogenous factorsMicrophthalmosPrealbuminCRYSTAL-STRUCTUREAetiologyBase Pairinglcsh:QH301-705.5Sequence DeletionPediatricwhole genome sequencingVITAMIN-A-DEFICIENCYANOPHTHALMIAPenetrancePedigreemedicine.anatomical_structurePhenotypeFemalemedicine.medical_specialtyGenotypeENDOPLASMIC-RETICULUMGenes RecessiveMETABOLISMBiologyGeneral Biochemistry Genetics and Molecular BiologyArticle03 medical and health sciencesDogscanine geneticsInternal medicinePlacentaRETINOL-BINDING-PROTEINGeneticsmedicineAnimalsHumansRecessiveMALFORMATIONSBIOCHEMICAL BASISAmino Acid SequenceAlleleEye Disease and Disorders of VisionNutritiongenome-wide association study030102 biochemistry & molecular biologywestern blottingMUTATIONSta1184RBP4maternal inheritancemedicine.diseaseRetinol-Binding ProteinsRetinol binding proteinnuclear magnetic resonance030104 developmental biologyEndocrinologychemistryGeneslcsh:Biology (General)microphthalmiaGenetic LociHela Cells1182 Biochemistry cell and molecular biologyCongenital Structural Anomalies3111 BiomedicineBiochemistry and Cell BiologyDigestive DiseasesGenomic imprintingRetinol-Binding Proteins PlasmaHeLa Cells
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Preventive Effect of Cow's Milk Fermented with Lactobacillus paracasei CBA L74 on Common Infectious Diseases in Children: A Multicenter Randomized Co…

2017

Background: Fermented foods have been proposed to prevent common infectious diseases (CIDs) in children attending day care or preschool. Objectives: To investigate the efficacy of dietary supplementation with cow’s skim milk fermented with the probiotic Lactobacillus paracasei CBA L74 in reducing CIDs in children attending day care or preschool. Methods: Multicenter, randomized, double-blind, placebo-controlled trial on healthy children (aged 12–48 months) consuming daily 7 grams of cow’s skim milk fermented with L. paracasei CBA L74 (group A), or placebo (maltodextrins group B) attending day care or preschool during the winter season. The main outcome was the proportion of children who exp…

0301 basic medicineMalePediatricsCultured Milk ProductsGroup Blaw.inventionDefensinsFeces0302 clinical medicineRandomized controlled triallawOtitisacute gastroenteritisinnate immunityRhinitisNutrition and DieteticsbiologyAbsolute risk reductionfood and beveragesPharyngitisLacticaseibacillus paracaseiGastroenteritisMilkChild Preschool030211 gastroenterology & hepatologyFemaleTracheitisprobioticacute gastroenteritimedicine.medical_specialtyLactobacillus paracaseiPlaceboCommunicable DiseasesArticle03 medical and health sciencesDouble-Blind MethodCathelicidinsInternal medicinemedicineAnimalsHumansimmunonutritionFecesIntention-to-treat analysisgut microbiotabusiness.industryProbioticsInfantacute gastroenteritis; upper respiratory tract infections; probiotics; innate immunity; acquired immunity; gut microbiota; immunonutritionupper respiratory tract infectionsbiology.organism_classificationmedicine.diseaseImmunoglobulin Aacquired immunity030104 developmental biologyUpper respiratory tract infectionupper respiratory tract infectionSample SizeFermentationCattlebusinessFood ScienceAntimicrobial Cationic Peptides
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Portion size selection in children: Effect of sensory imagery for snacks varying in energy density

2020

Food sensory imagery - creating a vivid mental image of the sensory experience of eating - can lead to the selection of smaller portions because it serves as a reminder that eating enjoyment does not necessarily increase with portion size. The evidence is mostly limited to adults and to energy-dense foods for which it is particularly difficult to predict the satiating effects of consumption quantity. The objective was to study how food sensory imagery influences portion size selection of foods varying in energy density (brownie and applesauce) by 7- to 11-year-old children. During after-school time, 171 children were randomized into two conditions. Children in the food sensory imagery condi…

0301 basic medicineMalePleasureTasteImagery PsychotherapyAdolescentHungerChild Behaviormindful eating030209 endocrinology & metabolismSensory systemfood choiceChoice BehaviorDevelopmental psychology03 medical and health sciencesEatingFood Preferences0302 clinical medicineIntervention (counseling)Serving size0502 economics and businessFood choiceHumans050207 economicsChildGeneral PsychologySelection (genetic algorithm)2. Zero hunger030109 nutrition & dieteticsNutrition and Dietetics050208 financemental imagery[SDV.NEU.PC]Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC]/Psychology and behavior05 social sciencesdigestive oral and skin physiologyPortion SizechilhoodEnergy densityImaginationFemaleSnacksPsychologyEnergy Intakeenergy density[SDV.AEN]Life Sciences [q-bio]/Food and NutritionMental image
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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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Associations between food consumption patterns and saliva composition: Specificities of eating difficulties children

2017

Identifying objective markers of dietwould be beneficial to research fields such as nutritional epidemiology. As a preliminary study on the validity of using saliva for this purpose, and in order to explore the relationship between saliva and diet, we focused on clearly contrasted groups of children: children with eating difficulties (ED) receiving at least 50% of their energy intake through artificial nutrition vs healthy controls (C). Saliva of ED and C children was analyzed by various methods (targeted biochemical analyses, 2-D electrophoresis coupled to MS, 1H NMR) and their diet was characterized using food frequency questionnaires, considering 148 food items grouped into 13 categories…

0301 basic medicineMaleSaliva[SDV]Life Sciences [q-bio]carbonic anhydraseBehavioral NeuroscienceTandem Mass Spectrometryalimentation de l'enfantSurveys and Questionnaireshuman feedingAmylaseFood scienceChildprotéomeCarbonic Anhydrases2. Zero hungerbiologycomportement alimentaireHaptoglobinFood selectivitysalivationChild Preschoolfood consumptionFemalealimentation humaineconsommation alimentaireExperimental and Cognitive Psychologyfood habitsFeeding and Eating Disorders03 medical and health sciencesFood Preferencessalivary biomarkerscomposition de la saliveMultiple factor analysisHumansSalivaanhydrase carboniquemétabolome[ SDV ] Life Sciences [q-bio]Nutritional epidemiologyFood Consumption PatternsFeeding Behaviordietary behavior030104 developmental biologySaliva compositionproteome Metabolome Salivary biomarkersSpectrometry Mass Matrix-Assisted Laser Desorption-Ionizationbiology.proteinMuramidaseEnergy Intakedietsécrétion salivaire
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Dietary intake in population with metabolic syndrome: is the prevalence of inadequate intake influenced by geographical area? cross-sectional analysi…

2018

Inadequate diet influences chronic diseases such as cardiovascular disease (CVD), the leading cause of death in Spain. CVD figures vary from one geographical region to another

0301 basic medicineMaleSíndrome metabòlicacumplimiento del pacienteCross-sectional studyhumanosejercicio físicoOverweightDiet MediterraneanRecommended Dietary AllowancesgeografíaNutrientClinical trialsSurveys and QuestionnairesFood choicePrevalenceMedicineMicronutrientsmediana edadDietoteràpiaRandomized Controlled Trials as Topic2. Zero hungereducation.field_of_studyancianoNutrition and DieteticssobrepesoGeographydietaensayos clínicos controlados aleatorizados como asuntoprevalenciaPREDIMED-Plus studyMiddle AgedMetabolic syndrome3. Good healthestado nutricionalDietary Reference IntakePlace of residenceFemalemedicine.symptomevaluación nutricionalcantidad dietética recomendadageographical arealcsh:Nutrition. Foods and food supplynutrient adequacyPopulationNutritional Statuslcsh:TX341-641metabolic syndromeArticle03 medical and health sciencesEnvironmental healthHumansplace of residencecardiovascular diseasesObesityeducationobesidadExerciseAgedGeographical area030109 nutrition & dieteticsNutrient adequacybusiness.industryDietary intakeDiet therapymicronutrientesOverweightmedicine.diseaseObesityDietCross-Sectional StudiesNutrition AssessmentSpainPatient ComplianceMetabolic syndromebusinessdietary intakeFood ScienceAssaigs clínicsestudios transversales
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Dietary Diversity and Nutritional Adequacy among an Older Spanish Population with Metabolic Syndrome in the PREDIMED-Plus Study: A Cross-Sectional An…

2019

Dietary guidelines emphasize the importance of a varied diet to provide an adequate nutrient intake. However, an older age is often associated with consumption of monotonous diets that can be nutritionally inadequate, increasing the risk for the development or progression of diet-related chronic diseases, such as metabolic syndrome (MetS). To assess the association between dietary diversity (DD) and nutrient intake adequacy and to identify demographic variables associated with DD, we cross-sectionally analyzed baseline data from the PREDIMED-Plus trial: 6587 Spanish adults aged 55&ndash

0301 basic medicineMaleSíndrome metabòlicamodelos logísticosCross-sectional studydietary diversityhumanosOverweightRecommended Dietary AllowancesFood groupencuestas sobre dietas0302 clinical medicineMedicinemediana edad2. Zero hungereducation.field_of_studyancianoNutrition and DieteticsdietaPREDIMED-Plus studyMiddle Aged3. Good healthestado nutricionalnutritionQuartileAvaluació de l'estat nutricionalDietary Reference IntakeDietaFemalemedicine.symptomNutritional status measurementcantidad dietética recomendadalcsh:Nutrition. Foods and food supplynutrient adequacyPopulationNutritional Status030209 endocrinology & metabolismlcsh:TX341-641Diet SurveysArticlemetabolic syndrome03 medical and health sciencesPremides-plus studyEnvironmental healthPREDIMED-Plus study aging dietary diversity metabolic syndrome nutrient adequacyHumansObesityanálisis multifactorialeducationobesidadAged030109 nutrition & dieteticsbusiness.industryagingOdds ratiomedicine.diseaseObesityDietCross-Sectional StudiesLogistic ModelsMultivariate AnalysisbusinessFood Scienceestudios transversales
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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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