Search results for "Risk Assessment"

showing 10 items of 1384 documents

2017

Purpose BRCA1/2 mutations increase the risk of breast and prostate cancer in men. Common genetic variants modify cancer risks for female carriers of BRCA1/2 mutations. We investigated—for the first time to our knowledge—associations of common genetic variants with breast and prostate cancer risks for male carriers of BRCA1/ 2 mutations and implications for cancer risk prediction. Materials and Methods We genotyped 1,802 male carriers of BRCA1/2 mutations from the Consortium of Investigators of Modifiers of BRCA1/2 by using the custom Illumina OncoArray. We investigated the combined effects of established breast and prostate cancer susceptibility variants on cancer risks for male carriers of…

0301 basic medicineGeneticsOncologyCancer Researchmedicine.medical_specialtymedicine.diagnostic_testbusiness.industryCase-control studyGenome-wide association studyOdds ratiomedicine.disease3. Good health03 medical and health sciencesProstate cancer030104 developmental biology0302 clinical medicineBreast cancerOncology030220 oncology & carcinogenesisInternal medicinemedicineOverdiagnosisbusinessRisk assessmentGenetic testingJournal of Clinical Oncology
researchProduct

Exome-Wide Association Study on Alanine Aminotransferase Identifies Sequence Variants in the GPAM and APOE Associated With Fatty Liver Disease.

2021

BACKGROUND & AIMS: Fatty liver disease (FLD) is a growing epidemic that is expected to be the leading cause of end-stage liver disease within the next decade. Both environmental and genetic factors contribute to the susceptibility of FLD. Several genetic variants contributing to FLD have been identified in exome-wide association studies. However, there is still a missing hereditability indicating that other genetic variants are yet to be discovered. METHODS: To find genes involved in FLD, we first examined the association of missense and nonsense variants with alanine amino transferase at an exome-wide level in 425,671 participants from the UK Biobank. We then validated genetic variants wit…

0301 basic medicineGenome-wide association studyLiver disease0302 clinical medicineENRICHMENT ANALYSISNon-alcoholic Fatty Liver DiseaseRisk FactorsNonalcoholic fatty liver diseaseExomeCONFERS SUSCEPTIBILITYGeneticsINSULIN-RESISTANCEmedicine.diagnostic_testFatty liverGastroenterologyAlanine Transaminase1-Acylglycerol-3-Phosphate O-Acyltransferase3. Good healthGENOMEEuropePhenotypeLiver biopsy030211 gastroenterology & hepatologyNonalcoholic Fatty Liver DiseaseMAFLDSingle-nucleotide polymorphismBiologyTransaminaseRisk Assessment03 medical and health sciencesApolipoproteins ENAFLDmedicineGenetic predispositionHumansGenetic Predisposition to DiseaseHEPATIC STEATOSISGenetic associationMAFLD Phenotype Reproducibility of Results Risk Assessment Risk Factors Transcriptome Genetic Variation Metabolic Associated Fatty Liver Disease Nonalcoholic Fatty Liver Disease Transaminase 1-Acylglycerol-3-Phosphate O-Acyltransferase Alanine Transaminase Apolipoproteins E Biomarkers Europe Exome Gene Expression Profiling Genetic Predisposition to Disease Genome-Wide Association Study Humans Non-alcoholic Fatty Liver DiseaseHepatologyMUTATIONSGene Expression ProfilingGenetic VariationReproducibility of Resultsmedicine.diseaseX-RECEPTORGENE030104 developmental biology3121 General medicine internal medicine and other clinical medicineMetabolic Associated Fatty Liver DiseaseRNA-SEQ DATATranscriptomePATHOGENICITYBiomarkersGenome-Wide Association StudyGastroenterology
researchProduct

Clinical and molecular characterization of 112 single-center patients with Neurofibromatosis type 1.

2018

Abstract Background The aim of this retrospective study was to define clinical and molecular characteristics of a large sample of neurofibromatosis type 1 (NF1) patients, as well as to evaluate mutational spectrum and genotype-phenotype correlation. NF1 is a relatively common neurogenetic disorder (1:2500–1:3000 individuals). It is caused by mutations of the NF1 gene on chromosome 17ql1.2, with autosomal dominant pattern of inheritance and wide phenotypical variability. Café-au-lait spots (CALs), cutaneous and/or subcutaneous neurofibromas (CNFs/SCNFs), skinfold freckling, skeletal abnormalities, Lisch nodules of the iris and increased risk of learning and intellectual disabilities, as well…

0301 basic medicineGenotype-phenotype correlation; New mutation; NF1 gene; NF1 microdeletion syndrome; Adolescent; Adult; Age Factors; Child; Child Preschool; Cohort Studies; DNA Mutational Analysis; Female; Genes Neurofibromatosis 1; Genetic Association Studies; Genetic Predisposition to Disease; Humans; Italy; Male; Middle Aged; Neurofibromatosis 1; Prevalence; Prognosis; Retrospective Studies; Risk Assessment; Sex Factors; Young Adult; Mutation MissenseMaleGenotype-phenotype correlationDNA Mutational AnalysisDiseaseCohort Studies0302 clinical medicineDNA Mutational AnalysisGenotypePrevalenceMedicineYoung adultChildNew mutationlcsh:RJ1-570Age FactorsMiddle AgedPrognosisItalyNF1 geneChild PreschoolCohortFemaleNF1 microdeletion syndromeCohort studyAdultmedicine.medical_specialtycongenital hereditary and neonatal diseases and abnormalitiesNeurofibromatosis 1AdolescentMutation MissenseRisk Assessment03 medical and health sciencesYoung AdultSex FactorsGenes Neurofibromatosis 1HumansGenetic Predisposition to DiseaseNeurofibromatosisPreschoolGenetic Association StudiesRetrospective Studiesbusiness.industryResearchRetrospective cohort studylcsh:Pediatricsmedicine.diseaseDermatology030104 developmental biologyGenesPediatrics Perinatology and Child HealthMutationMissensebusiness030217 neurology & neurosurgeryItalian journal of pediatrics
researchProduct

The prevalence of malnutrition according to the new ESPEN definition in four diverse populations

2016

© 2015 Elsevier Ltd and European Society for Clinical Nutrition and Metabolism.Background & aims: Consensus on the definition of malnutrition has not yet been reached. Recently, The European Society for Clinical Nutrition and Metabolism (ESPEN) proposed a consensus definition of malnutrition. The aim of the present study was to describe the prevalence of malnutrition according to the ESPEN definition in four diverse populations. Methods: In total, 349 acutely ill middle-aged patients, 135 geriatric outpatients, 306 healthy old individuals and 179 healthy young individuals were included in the study. Subjects were screened for risk of malnutrition using the SNAQ. The ESPEN definition of maln…

0301 basic medicineGerontologyMalePediatricsNutritional SciencesCritical Care and Intensive Care MedicineThinness/etiologygeriatric patientBody Mass IndexNutritional Sciences/methods0302 clinical medicineunderweightWeight loss/dk/atira/pure/sustainabledevelopmentgoals/zero_hungerPrevalenceMedicine030212 general & internal medicineYoung adultcomparative studypathophysiologyhealth care organizationNutrition and Dieteticsta3141Scientificta3142Middle AgedEuropenutritional assessmentElder Nutritional Physiological PhenomenaoutpatientAcute DiseasePractice Guidelines as TopicBody CompositionFemalemedicine.symptomRisk assessmentSocieties ScientificPredictive validityAdultRiskmedicine.medical_specialtyConsensusgeriatric nutritionNutritional Statusmalnutritionadult; aged; Article; body mass; controlled study; disease predisposition; fat free mass; female; geriatric patient; human; major clinical study; male; malnutrition; middle aged; nutritional assessment; outpatient; population research; predictive validity; prevalence; risk assessment; short nutritional assessment questionnaire; weight reduction; acute disease; body composition; comparative study; consensus; Europe; geriatric assessment; geriatric nutrition; health care organization; malnutrition; nutritional assessment; nutritional science; nutritional status; pathophysiology; practice guideline; procedures; risk; risk assessment; underweight; young adult Acute Disease; Adult; Aged; Body Composition; Body Mass Index; Consensus; Elder Nutritional Physiological Phenomena; Europe; Female; Geriatric Assessment; Humans; Male; Malnutrition; Middle Aged; Nutrition Assessment; Nutritional Sciences; Nutritional Status; Practice Guidelines as Topic; Prevalence; Risk; Risk Assessment; Societies Scientific; Thinness; Young Adult; Body mass index; Definition; Fat free mass index; Malnutrition; PrevalenceRisk AssessmentArticleEurope/epidemiology03 medical and health sciencesYoung AdultThinnessFat free mass indexHumanscontrolled studyhumanproceduresSDG 2 - Zero HungerGeriatric AssessmentAged030109 nutrition & dieteticsbusiness.industrypractice guidelinedisease predispositionDefinitionNUTRITION&DIETETICSmedicine.diseasemajor clinical studybody masspredictive validityMalnutritionNutrition Assessmentfat free massweight reductionshort nutritional assessment questionnairenutritional scienceNutritional sciencebusinessSocietiespopulation researchBody mass indexMalnutrition/diagnosisClinical Nutrition
researchProduct

Hg and Se exposure in brain tissues of striped dolphin (Stenella coeruleoalba) and bottlenose dolphin (Tursiops truncatus) from the Tyrrhenian and Ad…

2017

In this study we analyzed Hg and Se concentrations in dolphin brain tissues of fifteen specimens of striped dolphin (Stenella coeruleoalba) and eight specimens of bottlenose dolphin (Tursiops truncatus) stranded in the Tyrrhenian and Adriatic Seas, in order to assess the toxicological risks associated with Hg exposure. High Hg concentrations were found in brain tissues of both analyzed specie (1.86–243 mg/kg dw for striped dolphin and 2.1–98.7 mg/kg dw for bottlenose dolphin), exceeding levels associated with marine mammals neurotoxicity. Althougth the results clearly suggest that the protective effects of Se against Hg toxicity occur in cetaceans’ brain tissues, a molar excess of mercury w…

0301 basic medicineHealth Toxicology and MutagenesisZoologyStenella coeruleoalba010501 environmental sciencesBiologyManagement Monitoring Policy and LawToxicology01 natural sciencesAquatic organisms03 medical and health sciencesSeleniumStenellabiology.animalNeurotoxicityAnimalsSettore CHIM/01 - Chimica Analitica0105 earth and related environmental sciencesBrain; Mercury; Neurotoxicity; Selenium; Stenella coeruleoalba; Tursiops truncatus; Animals; Bottle-Nosed Dolphin; Brain; Italy; Mercury; Selenium; Stenella; Water Pollutants; Risk assessmentAnimalBrainAquatic animalGeneral MedicineMercuryBottlenose dolphinbiology.organism_classificationFisheryBottle-Nosed Dolphin030104 developmental biologyItalyStenella coeruleoalbaTursiops truncatuhuman activitiesWater Pollutants ChemicalEcotoxicology (London, England)
researchProduct

Environmental Factors Such as Noise and Air Pollution and Vascular Disease

2020

Significance: According to the World Health Organization, noncommunicable diseases are the globally leading cause of mortality. Recent Advances: About 71% of 56 million deaths that occurred worldwide are due to noncommunicable cardiovascular risk factors, including tobacco smoking, unhealthy diets, lack of physical activity, overweight, arterial hypertension, diabetes, and hypercholesterolemia, which can be either avoided or substantially reduced. Critical Issues: Thus, it is estimated that 80% of premature heart disease, stroke, and diabetes can be prevented. More recent evidence indicates that environmental stressors such as noise and air pollution contribute significantly to the global b…

0301 basic medicineHeart diseasePhysiologyClinical BiochemistryDiseaseOverweightRisk AssessmentBiochemistry03 medical and health sciencesRisk FactorsAir PollutionDiabetes mellitusEnvironmental healthmedicineAnimalsHumansEndotheliumVascular DiseasesEndothelial dysfunctionMolecular BiologyGeneral Environmental Science030102 biochemistry & molecular biologybusiness.industryNoise pollutionVascular diseaseStressorEnvironmental ExposureCell Biologymedicine.diseaseOxidative Stress030104 developmental biologyCardiovascular DiseasesGeneral Earth and Planetary SciencesDisease Susceptibilitymedicine.symptomNoisebusinessAntioxidants & Redox Signaling
researchProduct

The immunoglobulin γ marker 17 allotype and KIR/HLA genes prevent the development of chronic hepatitis B in humans

2020

Hepatitis B virus (HBV) infection causes a self-limiting disease in most individuals. However, < 10% of infected subjects develop a chronic disease. Genetic host variability of polymorphic genes at the interface of innate and acquired immunity, such as killer immunoglobulin-like receptors (KIR), their human leucocyte antigen (HLA) and IgG allotypes (GM), could explain this different clinical picture. We previously showed a protective role of the KIR2DL3 gene for the development of chronic hepatitis B (CHB), and a detrimental role of the KIR ligand groups, HLA-A-Bw4 and HLA-C2. We have expanded the previous analysis genotyping patients for GM23 and GM3/17 allotypes. The comparison of the …

0301 basic medicineHepatitis B virusKIR LigandImmunologyhepatitis B viruHuman leukocyte antigenHLA-C Antigensmedicine.disease_causeRisk Assessment03 medical and health sciences0302 clinical medicineHepatitis B ChronicGene FrequencyImmunoglobulin Gm AllotypesRisk Factorskiller immunoglobulin-like receptorImmunology and AllergyMedicineHumansGenetic Predisposition to DiseaseGenotypingHepatitis B virusSettore MED/04 - Patologia Generalebiologybusiness.industryOriginal ArticlesProtective FactorsAcquired immune systemAllotypeγ marker030104 developmental biologyPhenotypeHLA-B AntigensReceptors KIR2DL3Case-Control StudiesImmunologyHost-Pathogen Interactionsbiology.proteinGene polymorphismAntibodyhepatitis B virus; human leucocyte antigen; killer immunoglobulin-like receptor; ? markerbusiness030215 immunologyhuman leucocyte antigen
researchProduct

DNA multigene characterization of Fasciola hepatica and Lymnaea neotropica and its fascioliasis transmission capacity in Uruguay, with historical cor…

2017

Background Fascioliasis is a pathogenic disease transmitted by lymnaeid snails and recently emerging in humans, in part due to effects of climate changes, anthropogenic environment modifications, import/export and movements of livestock. South America is the continent presenting more human fascioliasis hyperendemic areas and the highest prevalences and intensities known. These scenarios appear mainly linked to altitude areas in Andean countries, whereas lowland areas of non-Andean countries, such as Uruguay, only show sporadic human cases or outbreaks. A study including DNA marker sequencing of fasciolids and lymnaeids, an experimental study of the life cycle in Uruguay, and a review of hum…

0301 basic medicineHeredityPhysiologySnailsHelminth geneticsMoltingGeographical locationslaw.invention0302 clinical medicinelawRNA Ribosomal 16SMedicine and Health SciencesCluster AnalysisPhylogenyGalba truncatulaMammalsbiologyEcologylcsh:Public aspects of medicineAgricultureRuminants030108 mycology & parasitologyDNA HelminthGenetic MappingInfectious DiseasesTransmission (mechanics)Helminth InfectionsVertebratesResearch ArticleNeglected Tropical DiseasesMitochondrial DNAFascioliasisLivestocklcsh:Arctic medicine. Tropical medicineGenotypelcsh:RC955-962030231 tropical medicineDNA RibosomalRisk Assessment03 medical and health sciencesHepaticaBovinesAcanthaceaeDNA Ribosomal Spacerparasitic diseasesGeneticsParasitic DiseasesFasciola hepaticaAnimalsHumansHorsesSheepPublic Health Environmental and Occupational HealthOrganismsOutbreakGenetic VariationBiology and Life Scienceslcsh:RA1-1270Sequence Analysis DNAMolluscsParasitologia veterinàriaFasciola hepaticaSouth Americabiology.organism_classificationTropical DiseasesInvertebratesHaplotypesGastropodsVector (epidemiology)AmniotesUruguayCattlePeople and placesBestiarPhysiological ProcessesPLoS Neglected Tropical Diseases
researchProduct

SARS-CoV-2 infection risk assessment in the endometrium: viral infection-related gene expression across the menstrual cycle

2020

Objective To determine the susceptibility of the endometrium to infection by—and thereby potential damage from—SARS-CoV-2. Design Analysis of SARS-Cov-2 infection-related gene expression from endometrial transcriptomic data sets. Setting Infertility research department affiliated with a public hospital. Patient(s) Gene expression data from five studies in 112 patients with normal endometrium collected throughout the menstrual cycle. Intervention(s) None. Main Outcome Measure(s) Gene expression and correlation between viral infectivity genes and age throughout the menstrual cycle. Result(s) Gene expression was high for TMPRSS4, CTSL, CTSB, FURIN, MX1, and BSG; medium for TMPRSS2; and low for…

0301 basic medicineInfertilityAdultGene Expression Regulation Viralmedia_common.quotation_subjectPneumonia ViralcoronavirusACE2BiologyPeptidyl-Dipeptidase AEndometriumTMPRSS2Risk AssessmentArticleAndrology03 medical and health sciencesBetacoronavirusEndometriumYoung Adult0302 clinical medicineViral entryGene expressionObstetrics and GynaecologymedicineHumansGeneFurinPandemicsMenstrual cycleMenstrual Cyclemedia_common030219 obstetrics & reproductive medicineSARS-CoV-2Age FactorsObstetrics and GynecologyCOVID-19Middle AgedVirus Internalizationmedicine.diseaseendometrial transcriptomics030104 developmental biologymedicine.anatomical_structureReproductive Medicinebiology.proteinFemaleAngiotensin-Converting Enzyme 2Coronavirus InfectionsFertility and Sterility
researchProduct

The membrane-bound O-acyltransferase domain-containing 7 variant rs641738 increases inflammation and fibrosis in chronic hepatitis B.

2017

Chronic hepatitis B (CHB) is characterized by hepatic inflammation that promotes progression to cirrhosis and predisposes to the development of hepatocellular carcinoma (HCC). Subtle interindividual genetic variation as well as viral and environmental factors interact to determine disease progression between individuals. Recently, the rs641738 membrane-bound O-acyltransferase domain-containing 7 (MBOAT7) polymorphism was demonstrated to influence histological liver damage in alcoholic liver disease, nonalcoholic fatty liver disease, and hepatitis C, but no data are available for CHB. We evaluated rs641738 influence on disease severity in a cohort of 1,101 patients with CHB. Forty-two patien…

0301 basic medicineLiver CirrhosisMaleAlcoholic liver diseaseCirrhosisSex FactorSeverity of Illness IndexCohort StudiesGene FrequencyFibrosisNon-alcoholic Fatty Liver DiseaseNonalcoholic fatty liver diseaseAge FactorProspective StudiesChronicMembrane ProteinMultivariate AnalysiAge FactorsHepatitis CSingle NucleotideMiddle AgedHepatitis BPrognosisHepatocellular carcinomaDisease ProgressionFemaleHumanAdultmedicine.medical_specialtyLogistic ModelPrognosiAcyltransferaseLiver CirrhosiAcetyltransferases; Acyltransferases; Adult; Age Factors; Cohort Studies; Confidence Intervals; Disease Progression; Female; Gene Frequency; Genetic Predisposition to Disease; Hepatitis B Chronic; Humans; Liver Cirrhosis; Logistic Models; Male; Membrane Proteins; Middle Aged; Multivariate Analysis; Non-alcoholic Fatty Liver Disease; Polymorphism Single Nucleotide; Prognosis; Prospective Studies; Risk Assessment; Severity of Illness Index; Sex FactorsPolymorphism Single NucleotideRisk Assessment03 medical and health sciencesHepatitis B ChronicSex FactorsSDG 3 - Good Health and Well-beingAcetyltransferasesInternal medicineAcetyltransferasemedicineConfidence IntervalsHumansGenetic Predisposition to DiseasePolymorphismHepatologybusiness.industryMembrane ProteinsHepatologymedicine.diseaseMinor allele frequencyProspective Studie030104 developmental biologyLogistic ModelsImmunologyMultivariate AnalysisCohort StudiebusinessConfidence IntervalAcyltransferasesHepatology (Baltimore, Md.)
researchProduct