Search results for "Susceptibility"

showing 10 items of 912 documents

Genetic justification of severe COVID-19 using a rigorous algorithm

2021

Recent studies suggest excessive complement activation in severe coronavirus disease-19 (COVID-19). The latter shares common characteristics with complement-mediated thrombotic microangiopathy (TMA). We hypothesized that genetic susceptibility would be evident in patients with severe COVID-19 (similar to TMA) and associated with disease severity. We analyzed genetic and clinical data from 97 patients hospitalized for COVID-19. Through targeted next-generation-sequencing we found an ADAMTS13 variant in 49 patients, along with two risk factor variants (C3, 21 patients; CFH,34 patients). 31 (32%) patients had a combination of these, which was independently associated with ICU hospitalization (…

0301 basic medicineMaleThrombomodulinSeverity of Illness Index0302 clinical medicineRisk FactorsImmunology and AllergyMedicineComplement ActivationRigorous algorithmmedicine.diagnostic_testHigh-Throughput Nucleotide SequencingComplement C3EculizumabEculizumabMiddle AgedHospitalizationSettore ICAR/09 - Tecnica Delle CostruzioniIntensive Care UnitsFactor HComplement Factor HFemaleAlgorithmsmedicine.drugmedicine.medical_specialtyThrombotic microangiopathyCritical CareImmunologyComplementADAMTS13 Protein03 medical and health sciencesInternal medicineFull Length ArticleSeverity of illnessGenetic predispositionGenetic susceptibilityHumansGenetic Predisposition to DiseaseGenetic TestingRisk factorGenetic testingAgedbusiness.industryThrombotic MicroangiopathiesCOVID-19medicine.diseaseComplement system030104 developmental biologySARS-CoV2business030215 immunologyClinical Immunology (Orlando, Fla.)
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The Relation between Eating Habits and Abdominal Fat, Anthropometry, PON1 and IL-6 Levels in Patients with Multiple Sclerosis

2020

Background: Multiple sclerosis (MS) is a chronic neurodegenerative disease of an inflammatory, demyelinating and autoimmune nature. Diets with a high caloric density could be especially relevant in terms of the pathogenesis related to an increase in adipose tissue that is metabolically active and releases mediators, which can induce systemic inflammation and an increased oxidation state. The aim of this study was to analyse the eating habits related to calorie intake and their impact on abdominal obesity associated with anthropometric variables, the activity of the oxidation marker paraoxonase 1 (PON1), and interleukin 6 (IL-6) levelsin MS patients. Methods: An analytical and quantitative o…

0301 basic medicineMaleWaistPopulationAbdominal FatAdipose tissuePhysiologyinterleukin 6lcsh:TX341-641multiple sclerosisArticle03 medical and health sciences0302 clinical medicinefeeding behaviourMedicineHumansBody Weights and MeasureseducationAbdominal obesityeducation.field_of_study030109 nutrition & dieteticsNutrition and Dieteticsanthropometrybiologybusiness.industryAryldialkylphosphataseInterleukin-6Paraoxonasepon1 human proteinFeeding BehaviorAnthropometryPON1DietNutrition AssessmentPON1 human proteinbiology.proteinFemaleDisease Susceptibilitymedicine.symptombusinessBody mass indexlcsh:Nutrition. Foods and food supply030217 neurology & neurosurgeryBiomarkersFood Science
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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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Analysis of colon-infiltrating γδ T cells in chronic inflammatory bowel disease and in colitis-associated cancer

2019

Abstract Inflammatory bowel disease (IBD) remains a global health problem with a significant percentage of patients progressing to chronic inflammation and colitis-associated cancer (CAC). Whether or not γδ T cells contribute to initiation and maintenance of inflammation in IBD and in the development of CAC is not known. We have evaluated the frequency, phenotype, and functions of γδ T cells among tissue-infiltrating lymphocytes in healthy donors and IBD and CAC patients. Results show that Vδ1 T cells are the dominant γδ T-cell population in healthy tissue, whereas Vδ2 T significantly abound in chronic IBD. Vδ2 T cells produce more IFN-γ, TNF-α, and IL-17 than Vδ1 T cells in chronic inflame…

0301 basic medicineMalechronic inflammationγδ T&nbspmedicine.medical_treatmentInflammatory bowel diseasePathogenesis0302 clinical medicineT-Lymphocyte SubsetsImmunology and AllergyCACeducation.field_of_studyReceptors Antigen T-Cell gamma-deltaMiddle AgedColitisIL-17Cytokine030220 oncology & carcinogenesisColonic NeoplasmsCytokinesFemaleInterleukin 17Disease Susceptibilitymedicine.symptomAdultImmunologyPopulationIBDInflammationBiologyProinflammatory cytokineImmunophenotyping03 medical and health sciencesmedicineHumansLymphocyte CountColitiseducationAgedGene Expression ProfilingCell Biologymedicine.diseaseInflammatory Bowel Diseasesdigestive system diseases030104 developmental biologycolitiImmunologyChronic DiseasecellsBiomarkers
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Meta-analysis of genome-wide association studies discovers multiple loci for chronic lymphocytic leukemia

2016

Chronic lymphocytic leukemia (CLL) is a common lymphoid malignancy with strong heritability. To further understand the genetic susceptibility for CLL and identify common loci associated with risk, we conducted a meta-analysis of four genome-wide association studies (GWAS) composed of 3,100 cases and 7,667 controls with follow-up replication in 1,958 cases and 5,530 controls. Here we report three new loci at 3p24.1 (rs9880772, EOMES, P=2.55 × 10−11), 6p25.2 (rs73718779, SERPINB6, P=1.97 × 10−8) and 3q28 (rs9815073, LPP, P=3.62 × 10−8), as well as a new independent SNP at the known 2q13 locus (rs9308731, BCL2L11, P=1.00 × 10−11) in the combined analysis. We find suggestive evidence (P<5 × 10−…

0301 basic medicineMedicin och hälsovetenskapChronic lymphocytic leukemiaGeneral Physics and AstronomyGenome-wide association studyVARIANTSMedical and Health SciencesMalalties hereditàries[ SDV.MHEP.HEM ] Life Sciences [q-bio]/Human health and pathology/HematologyChronicGeneticsRISKLeukemiaMultidisciplinaryBANK1VDP::Medisinske Fag: 700::Helsefag: 800::Samfunnsmedisin sosialmedisin: 801Bcl-2-Like Protein 11QAdaptor Proteins[SDV.MHEP.HEM]Life Sciences [q-bio]/Human health and pathology/HematologySingle NucleotideLymphocytic3. Good healthPRIORITIZATIONMultidisciplinary SciencesLeukemiamedicine.anatomical_structureScience & Technology - Other TopicsTRANSCRIPTION FACTOR EOMESODERMINGenetic disordersEXPRESSIONSUSCEPTIBILITY LOCIScienceEuropean Continental Ancestry GroupFAS GENE-MUTATIONSLocus (genetics)BiologyPolymorphism Single NucleotideGeneral Biochemistry Genetics and Molecular BiologyCLASSIFICATIONWhite PeopleArticle03 medical and health sciencesProto-Oncogene ProteinsMD MultidisciplinarymedicineGenetic predispositionSNPHumansLeucèmia limfocítica crònicaGenetic Predisposition to DiseasePolymorphismB cellSerpinsGenetic associationAdaptor Proteins Signal TransducingScience & TechnologySignal TransducingB-CellMembrane ProteinsGeneral Chemistrymedicine.diseaseLeukemia Lymphocytic Chronic B-Cell030104 developmental biologyChronic lymphocytic leukemiaVDP::Medical disciplines: 700::Health sciences: 800::Community medicine Social medicine: 801Apoptosis Regulatory ProteinsT-Box Domain ProteinsFOLLICULAR LYMPHOMAGenome-Wide Association Study
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Age reduces resistance and tolerance in malaria-infected mice.

2021

7 pages; International audience; Once infected, hosts can rely on two strategies to cope with parasites: fight them (resist the infection) or minimize the damage they induce (tolerate the infection). While there is evidence that aging reduces resistance, how tolerance varies as hosts become old has been barely studied. Here, we used a rodent malaria parasite (Plasmodium yoelii) to investigate whether 2- and 12-month old house mice differ in their capacity to resist and tolerate the infection. We found that 12-month old mice harbored higher parasitemia, showing that age reduces resistance to malaria. Infection-induced deterioration of host health was assessed using red blood cell and body ma…

0301 basic medicineMicrobiology (medical)SenescenceAgingsenescenceRodentAnemia[SDV]Life Sciences [q-bio]030106 microbiologyParasitemiaBiologyParasitemiaMicrobiologyHost-Parasite Interactions03 medical and health sciencesMiceImmunitybiology.animalparasitic diseasesGeneticsmedicineAnimals[SDV.MP.PAR]Life Sciences [q-bio]/Microbiology and Parasitology/ParasitologyMolecular BiologyEcology Evolution Behavior and SystematicsPhysiological PhenomenaDisease ResistanceAge FactorsImmunityPlasmodium yoeliimedicine.diseasebiology.organism_classificationanemia3. Good healthMalaria[SDV] Life Sciences [q-bio]virulenceMice Inbred C57BL030104 developmental biologyInfectious DiseasesImmunology[SDV.IMM]Life Sciences [q-bio]/ImmunologyFemaleHouse miceDisease SusceptibilityMalariaPlasmodium yoeliiInfection, genetics and evolution : journal of molecular epidemiology and evolutionary genetics in infectious diseases
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Occurrence and Antimicrobial Resistance of Arcobacter spp. Recovered from Aquatic Environments

2021

Arcobacter spp. are emerging waterborne and foodborne zoonotic pathogens responsible for gastroenteritis in humans. In this work, we evaluated the occurrence and the antimicrobial resistance profile of Arcobacter isolates recovered from different aquatic sources. Besides, we searched for Arcobacter spp. in seaweeds and the corresponding seawater samples. Bacteriological and molecular methods applied to 100 samples led to the isolation of 28 Arcobacter isolates from 27 samples. The highest prevalence was detected in rivers followed by artificial ponds, streams, well waters, and spring waters. Seaweeds contained a higher percentage of Arcobacter than the corresponding seawater samples. The is…

0301 basic medicineMicrobiology (medical)Water samplesVeterinary medicineAntibiotic susceptibilityArcobacter cryaerophilusTetWTetracyclinemedicine.drug_class030106 microbiologyAntibioticsTetOBiochemistryMicrobiologyArticle03 medical and health sciencesAntibiotic resistancemedicinePharmacology (medical)General Pharmacology Toxicology and PharmaceuticsbiologyAquatic ecosystemlcsh:RM1-950Arcobacter butzleri<i>Arcobacter butzleri</i>Multiplex PCRbiology.organism_classificationIsolation (microbiology)Arcobacter butzlerilcsh:Therapeutics. Pharmacology030104 developmental biologyInfectious DiseasesArcobacter<i>tetO</i><i>tetW</i>medicine.drugAntibiotics
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Evaluation of a mass spectrometry and Vitek 2 combined protocol for rapid identification and susceptibility testing of Enterobacterales directly from…

2020

Abstract Objective The aim was to evaluate a rapid method which would combine identification and susceptibility testing directly from positive blood cultures for Gram-negative bacilli of the Enterobacterales. Material and methods Gram-negative rods from blood cultures were directly identified by MALDI-TOF. Samples with Enterobacterales were selected for direct antimicrobial susceptibility testing by Vitek 2. The results were compared to those obtained with our laboratory's standard method. Results MALDI-TOF directly from blood cultures identified correctly 83% of the samples. Enterobacterales (n = 68) were identified at gender and species level in 85% of blood cultures with a score >1.7. In…

0301 basic medicineMicrobiology (medical)medicine.medical_specialtySusceptibility testing030106 microbiologyAntimicrobial susceptibilityBacteremiaMicrobial Sensitivity Tests03 medical and health sciences0302 clinical medicineSpecies levelEnterobacteriaceaeInternal medicineEnterobacteralesmedicineHumans030212 general & internal medicineProtocol (science)business.industryAnti-Bacterial AgentsRapid identificationCiprofloxacinAmikacinBlood CultureSpectrometry Mass Matrix-Assisted Laser Desorption-Ionizationbusinessmedicine.drugEnfermedades infecciosas y microbiologia clinica (English ed.)
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Contribution of MUTYH variants to male breast cancer risk: results from a multicenter study in Italy

2018

Inherited mutations in BRCA1, and, mainly, BRCA2 genes are associated with increased risk of male breast cancer (MBC). Mutations in PALB2 and CHEK2 genes may also increase MBC risk. Overall, these genes are functionally linked to DNA repair pathways, highlighting the central role of genome maintenance in MBC genetic predisposition. MUTYH is a DNA repair gene whose biallelic germline variants cause MUTYH-associated polyposis (MAP) syndrome. Monoallelic MUTYH variants have been reported in families with both colorectal and breast cancer and there is some evidence on increased breast cancer risk in women with monoallelic variants. In this study, we aimed to investigate whether MUTYH germline v…

0301 basic medicineOncologyCancer Researchmedicine.medical_specialtyMUTYHBRCA1/2; MUTYH; MUTYH-associated polyposis (MAP) syndrome; NGS; breast cancer risk; genetic susceptibility; male breast cancerPALB2male breast cancerlcsh:RC254-28203 medical and health sciencesbreast cancer risk0302 clinical medicineBreast cancerMUTYHBRCA1/2Internal medicinemedicineGenetic predispositionskin and connective tissue diseasesCHEK2MUTYH-associated polyposis (MAP) syndromeOriginal Researchbusiness.industryCancermedicine.diseaselcsh:Neoplasms. Tumors. Oncology. Including cancer and carcinogensPenetrancemale breast cancer; genetic susceptibility; BRCA1/2; MUTYH; NGS; MUTYH-associated polyposis (MAP) syndrome; breast cancer risk030104 developmental biologyOncology030220 oncology & carcinogenesisMale breast cancerNGSbusinessgenetic susceptibility
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Molecular profile in Paraguayan colorectal cancer patients, towards to a precision medicine strategy

2019

[EN] Somatic mutation analysis and evaluation of microsatellite instability (MSI) have become mandatory for selecting personalized therapy strategies for advanced colorectal cancer and are not available as routine methods in Paraguay. The aims of this study were to analyze the molecular profile as well as the microsatellite status in a series of advanced colorectal patients from two public hospitals from Paraguay, to introduce these methodologies in the routine practice to guide the therapeutic decisions. Thirty-six patients diagnosed with advanced colorectal cancer from two referent public hospitals from Paraguay were recruited from May 2017 to February 2018. Sequenom Mass spectrometry, On…

0301 basic medicineOncologyMaleCancer Researchmutational profileColorectal cancerDNA Mutational AnalysisKaplan-Meier Estimate0302 clinical medicineOriginal ResearchCancer BiologyPrecision medicineHigh-Throughput Nucleotide SequencingMiddle Agedlcsh:Neoplasms. Tumors. Oncology. Including cancer and carcinogensPrognosisImmunohistochemistryOncology030220 oncology & carcinogenesisFemaleMicrosatellite InstabilityDisease SusceptibilityColorectal NeoplasmsAdultmedicine.medical_specialtyprecision medicinecolorectal cancerlcsh:RC254-28203 medical and health sciencesYoung AdultInternal medicinemedicineBiomarkers TumorHumansRadiology Nuclear Medicine and imagingAgedNeoplasm Stagingbusiness.industryMicrosatellite instabilityOncocartaPrecision medicinemedicine.diseaseColorectal cancerMutational profile030104 developmental biologyMutationMicrosatellite instabilityMolecular ProfileNeoplasm GradingbusinessLENGUAJES Y SISTEMAS INFORMATICOSMicrosatellite Repeats
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