Search results for "beta"

showing 10 items of 3374 documents

The HLA-DQβ1 insertion is a strong achalasia risk factor and displays a geospatial north-south gradient among Europeans.

2016

Idiopathic achalasia is a severe motility disorder of the esophagus and is characterized by a failure of the lower esophageal sphincter to relax due to a loss of neurons in the myenteric plexus. Most recently, we identified an eight-amino-acid insertion in the cytoplasmic tail of HLA-DQβ1 as strong achalasia risk factor in a sample set from Central Europe, Italy and Spain. Here, we tested whether the HLA-DQβ1 insertion also confers achalasia risk in the Polish and Swedish population. We could replicate the initial findings and the insertion shows strong achalasia association in both samples (Poland P=1.84 × 10(-04), Sweden P=7.44 × 10(-05)). Combining all five European data sets - Central E…

0301 basic medicineMaleEuropean Continental Ancestry GroupShort ReportAchalasiaHuman leukocyte antigenWhite People03 medical and health sciences0302 clinical medicineSwedish populationGeneticGenetics esophageal achalasiaMutation RateGeneticsmedicineotorhinolaryngologic diseasesPrevalenceHLA-DQ beta-ChainsHumansIn patientEsophagusRisk factorGenetics (clinical)GeneticsHLA-DQ beta-ChainPolymorphism Geneticbusiness.industryEuropean populationmedicine.diseaseEsophageal AchalasiaEuropeMutagenesis Insertional030104 developmental biologymedicine.anatomical_structureAttributable risk030211 gastroenterology & hepatologyFemalebusinessHumanDemography
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Clinical and biochemical characteristics of individuals with low cholesterol syndromes: A comparison between familial hypobetalipoproteinemia and fam…

2017

Background The most frequent monogenic causes of low plasma cholesterol are familial hypobetalipoproteinemia (FHBL1) because of truncating mutations in apolipoprotein B coding gene (APOB) and familial combined hypolipidemia (FHBL2) due to loss-of-function mutations in ANGPTL3 gene. Objective A direct comparison of lipid phenotypes of these 2 conditions has never been carried out. In addition, although an increased prevalence of liver steatosis in FHBL1 has been consistently reported, the hepatic consequences of FHBL2 are not well established. Methods We investigated 350 subjects, 67 heterozygous carriers of APOB mutations, 63 carriers of the p.S17* mutation in ANGPTL3 (57 heterozygotes and …

0301 basic medicineMaleHepatic steatosisSettore MED/09 - Medicina InternaApolipoprotein BEndocrinology Diabetes and Metabolism030204 cardiovascular system & hematologymedicine.disease_causeANGPTL3 gene; APOB gene; Familial combined hypolipidemia; Familial hypobetalipoproteinemia; HDL cholesterol; Hepatic steatosis; Low cholesterol syndromesHypobetalipoproteinemiasExon0302 clinical medicineHDL cholesterolANGPTL3Nutrition and DieteticFamilial hypobetalipoproteinemiaGeneticsMutationNutrition and Dieteticsbiologyhepatic steatosisHomozygoteANGPTL3 geneMiddle AgedLow cholesterol syndromesPhenotypePhenotypelipids (amino acids peptides and proteins)FemaleCardiology and Cardiovascular MedicineANGPTL3 gene; APOB gene; familial combined hypolipidemia; familial hypobetalipoproteinemia; HDL cholesterol; hepatic steatosis; low cholesterol syndromesmedicine.medical_specialtyHeterozygoteLow cholesterol syndromeHepatic steatosi03 medical and health sciencesInternal medicineInternal MedicinemedicineHumansAPOB geneFamilial combined hypolipidemiaGeneAgedAngiopoietin-Like Protein 3Apolipoproteins Bbusiness.industryHeterozygote advantagemedicine.disease030104 developmental biologyEndocrinologyAngiopoietin-like ProteinsMutationbiology.proteinlow cholesterol syndromesSteatosisbusiness
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Multicomponent Training Prevents Memory Deficit Related to Amyloid-β Protein-Induced Neurotoxicity.

2021

Background: Alzheimer’s disease (AD) is characterized by the accumulation of the amyloid-β peptide in the brain, leading to early oxidative stress and neurotoxicity. It has been suggested that physical exercise could be beneficial in preventing AD, but studies with multicomponent training are scanty. Objective: Verify the effects of multicomponent exercise training to prevent deficits in recognition memory related to Aβ neurotoxicity. Methods: We subjected Wistar rats to multicomponent training (including aerobic and anaerobic physical exercise and cognitive exercise) and then infused amyloid-β peptide into their hippocampus. Results: We show that long-term multicomponent training prevents …

0301 basic medicineMaleHippocampusPhysical exercisePharmacologyHippocampal formationmedicine.disease_causeHippocampusLipid peroxidationStereotaxic Techniques03 medical and health scienceschemistry.chemical_compound0302 clinical medicinePhysical Conditioning AnimalMedicineAnimalsRats WistarRecognition memoryMemory DisordersAmyloid beta-Peptidesbusiness.industryGeneral NeuroscienceNeurotoxicityBrainGeneral Medicinemedicine.diseaseRatsPsychiatry and Mental healthClinical PsychologyDisease Models AnimalOxidative Stress030104 developmental biologychemistryNeurotoxicity SyndromesLipid PeroxidationGeriatrics and GerontologybusinessAnaerobic exercise030217 neurology & neurosurgeryOxidative stressJournal of Alzheimer's disease : JAD
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Inflammasome activation in Ankylosing Spondylitis is associated to gut dysbiosis

2021

Objective: We undertook this study to evaluate the activation and functional relevance of inflammasome pathways in ankylosing spondylitis (AS) patients and rodent models and their relationship to dysbiosis. Methods: An inflammasome pathway was evaluated in the gut and peripheral blood from 40 AS patients using quantitative reverse transcriptase–polymerase chain reaction (qRT-PCR), immunohistochemistry (IHC), flow cytometry, and confocal microscopy, and was compared to that of 20 healthy controls and 10 patients with Crohn’s disease. Bacteria was visualized using silver stain in human samples, and antibiotics were administered to HLA–B27–transgenic rats. The NLRP3 inhibitor MCC950 was admini…

0301 basic medicineMaleInflammasomesmedicine.medical_treatmentInterleukin-1betaInterleukin-23Mice0302 clinical medicineCrohn DiseaseNLRC4Interleukin 23Immunology and AllergyIleitisHLA-B27 AntigenSulfonamidesReverse Transcriptase Polymerase Chain ReactionCaspase 1Interleukin-17Interleukin-18InflammasomeIleitisMiddle AgedImmunohistochemistryAnti-Bacterial AgentsDNA-Binding ProteinsCytokineIndenesFemaleInterleukin 17Rats Transgenicmedicine.drugAdultAdolescentImmunologyReceptors Cell Surface03 medical and health sciencesAIM2Young AdultRheumatologyIleumNLR Family Pyrin Domain-Containing 3 ProteinmedicineAnimalsHumansSpondylitis AnkylosingFurans030203 arthritis & rheumatologybusiness.industryCalcium-Binding Proteinsmedicine.diseaseGastrointestinal MicrobiomeRatsCARD Signaling Adaptor Proteins030104 developmental biologyCase-Control StudiesImmunologyDysbiosisJointsbusinessDysbiosis
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Pistachio Consumption Alleviates Inflammation and Improves Gut Microbiota Composition in Mice Fed a High-Fat Diet.

2019

High-fat diet (HFD) induces inflammation and microbial dysbiosis, which are components of the metabolic syndrome. Nutritional strategies can be a valid tool to prevent metabolic and inflammatory diseases. The aim of the present study was to evaluate if the chronic intake of pistachio prevents obesity-associated inflammation and dysbiosis in HFD-fed mice. Three groups of male mice (four weeks old

0301 basic medicineMaleInterleukin-1betaAdipose tissueGut floralcsh:ChemistryMice0302 clinical medicineLactobacilluslcsh:QH301-705.5SpectroscopyChemokine CCL2biologydigestive oral and skin physiologyfood and beveragesGeneral Medicinepistachio intakeobesity-related inflammation pistachio intake gut microbiota HFD mice adipose tissueComputer Science Applicationsadipose tissueLiverPistacialipids (amino acids peptides and proteins)medicine.symptomhormones hormone substitutes and hormone antagonistsmedicine.medical_specialty030209 endocrinology & metabolismInflammationDiet High-FatCatalysisArticleInorganic Chemistry03 medical and health sciencesInternal medicineobesity-related inflammationmedicineAnimalsHFD miceObesityPhysical and Theoretical ChemistryMolecular BiologyFecesgut microbiotaTumor Necrosis Factor-alphaOrganic Chemistrynutritional and metabolic diseasesmedicine.diseasebiology.organism_classificationObesityGastrointestinal MicrobiomeMice Inbred C57BL030104 developmental biologyEndocrinologylcsh:Biology (General)lcsh:QD1-999DysbiosisMetabolic syndromeDysbiosisDiet TherapyInternational journal of molecular sciences
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Differential role of interleukin-1β in neuroinflammation-induced impairment of spatial and nonspatial memory in hyperammonemic rats.

2019

Activated microglia and increased brain IL-1β play a main role in cognitive impairment in much pathology. We studied the role of IL-1β in neuroinflammation-induced impairment of the following different types of learning and memory: novel object recognition (NOR), novel object location (NOL), spatial learning, reference memory (RM), and working memory (WM). All these processes are impaired in hyperammonemic rats. We assessed which of these types of learning and memory are restored by blocking the IL-1 receptor in vivo in hyperammonemic rats and the possible mechanisms involved. Blocking the IL-1 receptor reversed microglial activation in the hippocampus, perirhinal cortex, and prefrontal cor…

0301 basic medicineMaleInterleukin-1betaPostrhinal cortexHippocampusBiochemistryHippocampusReceptors N-Methyl-D-Aspartate03 medical and health sciences0302 clinical medicineReceptors GABAAmmoniaMemoryPerirhinal cortexGeneticsmedicineMemory impairmentAnimalsHyperammonemiaReceptors AMPARats WistarPrefrontal cortexMolecular BiologyNeuroinflammationCerebral CortexInflammationMicrogliabusiness.industryWorking memoryAnimal FeedRatsInterleukin 1 Receptor Antagonist ProteinProtein Subunits030104 developmental biologymedicine.anatomical_structureGene Expression RegulationReceptors GlutamateMicrogliabusinessNeuroscience030217 neurology & neurosurgeryBiotechnologyFASEB journal : official publication of the Federation of American Societies for Experimental Biology
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Spatial learning and long-term memory impairments in RasGrf1 KO, Pttg1 KO, and double KO mice

2018

© 2018 The Authors.

0301 basic medicineMaleMemory Long-TermHippocampusSpatial learningBiologyHippocampusBarnes mazememory03 medical and health sciencesBehavioral Neuroscience0302 clinical medicineDiscrimination PsychologicalMemoryAnimalsPttg1Maze LearningChromosome separationOriginal ResearchMice KnockoutPCALong-term memoryras-GRF1spatial learningBrainBarnes mazeMice Inbred C57BLSecurin030104 developmental biologySecurinCervell Localització de funcionsMemory consolidationFemaleSignal transductionBeta cellRasGrf1Neuroscience030217 neurology & neurosurgerySignal Transduction
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Use of Cepheid Xpert Carba-R® for Rapid Detection of Carbapenemase-Producing Bacteria in Abdominal Septic Patients Admitted to Intensive Care Unit.

2016

Abstract Early institution of effective antibiotic therapy and source control are pivotal to improve survival of abdominal septic patients. Xpert® Carba-R is a real time polymerase chain reaction assay for rapid detection and differentiation of five genes (blaKPC, blaVIM, blaOXA-48, blaIMP-1, blaNDM) responsible for carbapenem resistance. We performed an observational study investigating the clinical usefulness and applicability of Xpert® Carba-R to detect carbapenem resistance in abdominal septic patients admitted to intensive care unit. We compared the results of Xpert® Carba-R with standard microbiological culture. We collected a set of two rectal/stomia swabs and two swabs from abdomina…

0301 basic medicineMaleMicrobiological cultureAntibioticslcsh:MedicineArtificial Gene Amplification and ExtensionPathology and Laboratory MedicinePolymerase Chain Reactionlaw.inventionKlebsiella Pneumoniae0302 clinical medicinelawAntibioticsKlebsiellaEpidemiologymultidrug resistance sepsis intensive care unitAbdomenMedicine and Health SciencesMedicine030212 general & internal medicinelcsh:ScienceMultidisciplinaryAntimicrobialsCepheid Xpert Carba-R®DrugsMicrobial CulturesMiddle AgedIntensive care unitHospitalsBacterial PathogensIntensive Care UnitsAbdominal SurgeryMedical MicrobiologyFemaleBiological CulturesPathogensResearch ArticleDNA Bacterialmedicine.medical_specialtymedicine.drug_class030106 microbiologySurgical and Invasive Medical ProceduresResearch and Analysis MethodsReal-Time Polymerase Chain ReactionRapid detectionMicrobiologySensitivity and Specificitybeta-Lactamases03 medical and health sciencesAntibiotic resistanceBacterial ProteinsEnterobacteriaceaeDiagnostic MedicineInternal medicineIntensive careMicrobial ControlSepsisDrug Resistance BacterialHumansMED/41 - ANESTESIOLOGIAMolecular Biology TechniquesMicrobial PathogensMolecular BiologyAgedPharmacologyBacteriabusiness.industrylcsh:ROrganismsRectumBiology and Life SciencesSurgeryHealth CareCarbapenemsHealth Care FacilitiesAntibiotic Resistancelcsh:QAntimicrobial ResistanceReagent Kits DiagnosticbusinessAbdominal surgery
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Autosomal-Recessive Mutations in AP3B2, Adaptor-Related Protein Complex 3 Beta 2 Subunit, Cause an Early-Onset Epileptic Encephalopathy with Optic At…

2016

International audience; Early-onset epileptic encephalopathy (EOEE) represents a heterogeneous group of severe disorders characterized by seizures, interictal epileptiform activity with a disorganized electroencephalography background, developmental regression or retardation, and onset before 1 year of age. Among a cohort of 57 individuals with epileptic encephalopathy, we ascertained two unrelated affected individuals with EOEE associated with developmental impairment and autosomal-recessive variants in AP3B2 by means of whole-exome sequencing. The targeted sequencing of AP3B2 in 86 unrelated individuals with EOEE led to the identification of an additional family. We gathered five addition…

0301 basic medicineMaleMicrocephalyDevelopmental DisabilitiesPostnatal microcephalycopper-metabolismEpilepsy0302 clinical medicineexpansionhermansky-pudlak-syndromeddc:576.5Age of OnsetChilddisordersGenetics (clinical)seizuresGeneticsMEDNIK syndromeSyndrome3. Good healthPedigreeintellectual disabilityChild Preschoolmednik syndromeMicrocephalyFemaleDevelopmental regressionAdaptor Protein Complex 3Genes RecessiveBiologyAP3B103 medical and health sciencesAtrophyReport[ SDV.MHEP ] Life Sciences [q-bio]/Human health and pathologyGeneticsmedicineHumansAdaptor Protein Complex beta SubunitsmousediseaseEpilepsyap-4 deficiencyInfant NewbornInfantmedicine.diseaseOptic Atrophy030104 developmental biologyMutationHermansky–Pudlak syndrome030217 neurology & neurosurgery[SDV.MHEP]Life Sciences [q-bio]/Human health and pathology
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Myeloid Cells Restrict MCMV and Drive Stress- Induced Extramedullary Hematopoiesis through STAT1

2019

Cytomegalovirus (CMV) has a high prevalence worldwide, is often fatal for immunocompromised patients, and causes bone marrow suppression. Deficiency of signal transducer and activator of transcription 1 (STAT1) results in severely impaired antiviral immunity. We have used cell- type restricted deletion of Stat1 to determine the importance of myeloid cell activity for the defense against murine CMV (MCMV). We show that myeloid STAT1 limits MCMV burden and infection- associated pathology in the spleen but does not affect ultimate clearance of infection. Unexpectedly, we found an essential role of myeloid STAT1 in the induction of extramedullary hematopoiesis (EMH). The EMH- promoting function…

0301 basic medicineMaleMuromegalovirusMyeloidIFN-II receptorReceptor Interferon alpha-betamonocytes signal transducer and activator of transcription Herpesviridae IFN-I receptor IFN-II receptor L-27 receptor TLR9 agonistmedicine.disease_causeVirus Replication0302 clinical medicineTLR9 agonistMyeloid CellsSTAT1Cells CulturedHerpesviridaeReceptors Interferonsignal transducer and activator of transcriptionvirus diseasesIL-27 receptorHerpesviridae InfectionsExtramedullary hematopoiesisKiller Cells NaturalHaematopoiesismedicine.anatomical_structureSTAT1 Transcription FactorBone marrow suppressionHematopoiesis ExtramedullaryFemalemonocytesBIOMEDICINA I ZDRAVSTVO. Temeljne medicinske znanosti.SpleenBiologyGeneral Biochemistry Genetics and Molecular BiologyHerpesviridaeArticle03 medical and health sciencesStress PhysiologicalmedicineAnimalsBIOMEDICINE AND HEALTHCARE. Basic Medical Sciences.Receptors Interleukinmedicine.diseaseMice Inbred C57BL030104 developmental biologyImmunologySTAT proteinbiology.protein030217 neurology & neurosurgeryGene DeletionSpleenIFN-I receptor
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