2025
Thoracic aortic aneurysm
Berger T, Dumfarth J, Kreibich M, Minatoya K, Ziganshin B, Czerny M. Thoracic aortic aneurysm. Nature Reviews Disease Primers 2025, 11: 34. PMID: 40341396, DOI: 10.1038/s41572-025-00617-2.Peer-Reviewed Original ResearchConceptsThoracic aortic aneurysmAortic diseasePathophysiological mechanismsTreatment of aortic diseaseThoracic aortic diseaseVascular smooth muscle cellsGold standard diagnostic toolSmooth muscle cellsCardiovascular risk factorsStandard diagnostic toolAortic medicineAdvanced imaging techniquesEmbryological factorsCT angiographyArterial hypertensionDiagnostic challengeAortic aneurysmAbnormal dilatationThoracic aortaAsymptomatic natureGenetic predispositionTreatment outcomesMuscle cellsMedical managementRisk factorsEpidemiology of Opioid Use, Misuse, and Overdoses
Draghmeh K, Gold M, Fuehrlein B. Epidemiology of Opioid Use, Misuse, and Overdoses. Current Addiction Reports 2025, 12: 36. DOI: 10.1007/s40429-025-00649-4.Peer-Reviewed Original ResearchOpioid use disorderEpidemiology of opioid useComplex public health challengesMental health disordersRisk factorsPublic health challengeOpioid useHarm reduction programsSocioeconomic disadvantagePsychosocial interventionsAccess barriersHealth disordersHealth challengesReduction programsOverdose deathsImprove outcomesGenetic predispositionCollaborative effortsPolysubstance useTreatment retentionEpidemiologyInnovative therapiesIncreasing overdose deathsReviewThis reviewLimited accessibilityObservational and Genetic Analyses of Traumatic Experiences and Endometriosis
Koller D, Løkhammer S, Goroshchuk O, Denner V, Stiltner B, Mitjans M, He J, Taylor H, Lawn R, Koenen K, Polimanti R. Observational and Genetic Analyses of Traumatic Experiences and Endometriosis. JAMA Psychiatry 2025, 82: 386-394. PMID: 39908042, PMCID: PMC11800128, DOI: 10.1001/jamapsychiatry.2024.4694.Peer-Reviewed Original ResearchPolygenic risk scoresLatent class analysisAssociated with increased oddsTraumatic experiencesImpact of childhoodIndividual-level dataCase-control studyStressful eventsGenetic predispositionTrauma-related outcomesUnaffected womenMain OutcomesFinnGen cohortRisk scoreAssociation of endometriosisPosttraumatic stress disorderTrauma eventsMeta-analysisSexual traumaAssociated with endometriosisContact traumaPotential associationStress disorderPsychological traumaPhenotypic associations
2024
Health-Related Behaviors and Risk of Common Age-Related Brain Diseases Across Severities of Genetic Risk
Marini S, Kimball T, Mayerhofer E, Tack R, Senff J, Prapiadou S, Rivier C, Duskin J, Kourkoulis C, Falcone G, Yechoor N, Tanzi R, Rosand J, Singh S, Parodi L, Anderson C. Health-Related Behaviors and Risk of Common Age-Related Brain Diseases Across Severities of Genetic Risk. Neurology 2024, 103: e210014. PMID: 39504504, DOI: 10.1212/wnl.0000000000210014.Peer-Reviewed Original ResearchConceptsLate-life depressionGenetic riskDementia riskUK Biobank (UKBEffects of healthy lifestylesHealth-related behaviorsGenetic predispositionElevated genetic riskProspective cohort studyHazard of strokeCox proportional hazards modelsAge-related brain diseasesLifestyle behaviorsCare scoresUKB participantsProportional hazards modelHealthy lifestyleIncidence of strokeMultivariate Cox proportional hazards modelPolygenic scoresTargeted interventionsLifestyle adjustmentsAggregate risk estimatesRisk estimatesCohort studyFurther evidence for the association between childhood trauma and suicidal ideation in young individuals: A twin based study
Moreno-Gamazo N, Pries L, Marqués-Feixa L, Papiol S, Romero S, Menne-Lothmann C, Decoster J, van Winkel R, Collip D, Delespaul P, De Hert M, Derom C, Thiery E, Jacobs N, Wichers M, van Os J, Rutten B, Fañanás L, Guloksuz S. Further evidence for the association between childhood trauma and suicidal ideation in young individuals: A twin based study. Journal Of Affective Disorders 2024, 370: 118-123. PMID: 39488234, DOI: 10.1016/j.jad.2024.10.125.Peer-Reviewed Original ResearchChildhood traumaSuicidal ideationPsychiatric evaluation of patientsSCL-90-R.Environmental risk factorsGene-environment correlationHistory of CTSample of twinsTwin analysesGenetic vulnerabilityPsychiatric evaluationRisk factorsTwin studiesTwin pairsPhysical abuseEvaluation of patientsDizygotic twinsGenetic riskIdeationProtective factorsPsychosocial environmentIndividual characteristicsGenetic predispositionIncreased riskTotal CTW94. ALLELE FREQUENCIES AT CRUCIAL LOCI MIGHT UNDERLIE DISPARATE CONSEQUENCES OF ALCOHOL ABUSE ACROSS WORLD POPULATIONS
Shankarappa B, Ganesh S, Purushottam M, Jain S. W94. ALLELE FREQUENCIES AT CRUCIAL LOCI MIGHT UNDERLIE DISPARATE CONSEQUENCES OF ALCOHOL ABUSE ACROSS WORLD POPULATIONS. European Neuropsychopharmacology 2024, 87: 151. DOI: 10.1016/j.euroneuro.2024.08.303.Peer-Reviewed Original ResearchDistribution of allele frequenciesAllele frequenciesAlcohol use disorderAlcohol-related comorbiditiesAlcohol abuseUse disorderHeritability of alcohol use disordersRisk of diseaseIll healthSequence alignmentSIFT scoreAlcohol consumptionAlcohol-related complicationsHealth consequencesAlcohol useAssociated with alcoholDisease burdenConsequences of alcohol abuseHealth complicationsContext of alcohol abuseRisk factorsHealthGenetic predispositionMetabolize alcoholCultural practicesDifferential interactions between gene expressions and stressors across the lifespan in major depressive disorder
Wang R, Su Y, O'Donnell K, Caron J, Meaney M, Meng X, Li Y. Differential interactions between gene expressions and stressors across the lifespan in major depressive disorder. Journal Of Affective Disorders 2024, 362: 688-697. PMID: 39029669, DOI: 10.1016/j.jad.2024.07.069.Peer-Reviewed Original ResearchMDD riskDepressive disorderPatterns of stressorsVulnerability-stress theoriesSusceptibility to MDDTranscriptome-wide association studyDimensions of stressorsLatent profile modelsLongitudinal community-based cohortPrefrontal cortexLifetime stressorsMDDGene expressionBrain amygdalaBasal gangliaStress researchNominal p-values <Southwest MontrealStressorsBrainFine-mapping analysisBrain cortexStudy cohortGenetic predispositionCortexIndividuals as active co-creators of their environments: implications for prevention of inequalities
Viding E, McCrory E. Individuals as active co-creators of their environments: implications for prevention of inequalities. Oxford Open Economics 2024, 3: i749-i753. DOI: 10.1093/ooec/odad071.Peer-Reviewed Original ResearchEarly adversityLatent vulnerabilityReduce inequalitiesGene-environment correlationAdaptability to adversityTargeted interventionsPattern of processingDispositional differencesPrevent inequalitiesEarly interventionContext of preventionInterventionIndividual dispositionsAdversityGenetic predispositionDevelopmental effectsCorrelational researchPreventionCo-creationActive co-creatorsIndividualsChildrenEducation domainInequalityLearning processIntrauterine chromium exposure and cognitive developmental delay: The modifying effect of genetic predisposition
Jia Z, Zhang H, Lv Y, Yu L, Cui Y, Zhang L, Yang C, Liu H, Zheng T, Xia W, Xu S, Li Y. Intrauterine chromium exposure and cognitive developmental delay: The modifying effect of genetic predisposition. The Science Of The Total Environment 2024, 946: 174350. PMID: 38960203, DOI: 10.1016/j.scitotenv.2024.174350.Peer-Reviewed Original ResearchRisk due to interactionCognitive developmental delayGenetic riskSynergy indexGenetic factorsExcess risk due to interactionDevelopmental delayBayley Scales of Infant DevelopmentProportion due to interactionPolygenic risk scoresHigh-risk factorsEffects of genetic predispositionDose-response relationshipMother-child pairsGenetic backgroundBayley ScalesGenetic predispositionIncreased riskRisk scoreCr exposureLogistic regressionInfant developmentPlasma Cr concentrationIntrauterineAdditive interactionThe Future of Kidney Care in Low- and Middle-Income Countries: Challenges, Triumphs, and Opportunities
Kalyesubula R, Aklilu A, Calice-Silva V, Kumar V, Kansiime G. The Future of Kidney Care in Low- and Middle-Income Countries: Challenges, Triumphs, and Opportunities. Kidney360 2024, 5: 1047-1061. PMID: 38922683, PMCID: PMC11296549, DOI: 10.34067/kid.0000000000000489.Peer-Reviewed Original ResearchKidney careMiddle-income countriesHealth system infrastructureResilient health care systemHealth care providersKidney healthHealth care systemChronic kidney diseaseCare providersUnique risk factorsHealth priorityCare systemLack of awarenessChronic diseasesGeneral populationCareLMICsKidney replacement therapyHealthRisk factorsGenetic predispositionEarly detectionMultidisciplinary followFinancing mechanismsHuman resourcesStem Cells and Platelet-Rich Plasma in the Treatment of Osteochonndral Lesions of the Talus
Fraser E, Kennedy J, Gianakos A, Yasui Y. Stem Cells and Platelet-Rich Plasma in the Treatment of Osteochonndral Lesions of the Talus. 2024, 47-56. DOI: 10.1201/9781003524205-7.Peer-Reviewed Original ResearchThe relationship between 11 different polygenic longevity scores, parental lifespan, and disease diagnosis in the UK Biobank
Don J, Schork A, Glusman G, Rappaport N, Cummings S, Duggan D, Raju A, Hellberg K, Gunn S, Monti S, Perls T, Lapidus J, Goetz L, Sebastiani P, Schork N. The relationship between 11 different polygenic longevity scores, parental lifespan, and disease diagnosis in the UK Biobank. GeroScience 2024, 46: 3911-3927. PMID: 38451433, PMCID: PMC11226417, DOI: 10.1007/s11357-024-01107-1.Peer-Reviewed Original ResearchConceptsGenome-wide association studiesPolygenic risk scoresDisease-associated variantsPolygenic scoresParental lifespanLarge-scale genome-wide association studiesUK Biobank (UKBEffects of disease-associated variantsTests of associationUK BiobankGenetic architecturePopulation structureAssociation studiesPolygenic basisAssociated with parental lifespanDisease traitsPolygenic componentGenetic variantsRisk scoreDisease susceptibilityHuman longevityGenetic predispositionHealthTraitsHealth span
2023
Guidelines for best practices in monitoring established coeliac disease in adult patients
Elli L, Leffler D, Cellier C, Lebwohl B, Ciacci C, Schumann M, Lundin K, Chetcuti Zammit S, Sidhu R, Roncoroni L, Bai J, Lee A, Dennis M, Robert M, Rostami K, Khater S, Comino I, Cebolla A, Branchi F, Verdu E, Stefanolo J, Wolf R, Bergman-Golden S, Trott N, Scudeller L, Zingone F, Scaramella L, Sanders D. Guidelines for best practices in monitoring established coeliac disease in adult patients. Nature Reviews Gastroenterology & Hepatology 2023, 21: 198-215. PMID: 38110546, DOI: 10.1038/s41575-023-00872-2.Peer-Reviewed Original ResearchConceptsCoeliac diseaseLevel of evidenceLife-long gluten-free dietGluten-free dietMucosal atrophyAdult patientsCirculating autoantibodiesFollow-upGenetic predispositionImmunological diseasesRecommendations AssessmentMonitoring patientsClinical guidelinesEvidence levelPatientsConsumption of glutenDiagnosisDiseaseGuidelinesScientific societiesCeDAutoantibodiesGastroenterologistsAtrophyPatient Preferences for Postmastectomy Breast Reconstruction
Shammas R, Hung A, Mullikin A, Sergesketter A, Lee C, Reed S, Fish L, Greenup R, Hollenbeck S. Patient Preferences for Postmastectomy Breast Reconstruction. JAMA Surgery 2023, 158: 1285-1292. PMID: 37755818, PMCID: PMC10535024, DOI: 10.1001/jamasurg.2023.4432.Peer-Reviewed Original ResearchConceptsRisk of complicationsBreast reconstructionAbdominal morbidityFlap reconstructionBreast cancerGenetic predispositionPatient-physician discussionsImplant-based reconstructionPostmastectomy breast reconstructionCross-sectional studyChance of complicationsPatient-centered careAdditional operationsHigher educational levelMajor complicationsPreoperative counselingPatient preferencesFlap appearanceTreatment preferencesImplant reconstructionMAIN OUTCOMENew diagnosisPatient valuesComplicationsMean increaseThrombotic Microangiopathy and Acute Tubular Injury After Diethylene Glycol Ingestion: A Kidney Biopsy Teaching Case
Malvar G, Gunasekaran D, Mehr N, Ishibe S, Moeckel G. Thrombotic Microangiopathy and Acute Tubular Injury After Diethylene Glycol Ingestion: A Kidney Biopsy Teaching Case. Kidney Medicine 2023, 6: 100758. PMID: 38304581, PMCID: PMC10831151, DOI: 10.1016/j.xkme.2023.100758.Peer-Reviewed Original ResearchAcute tubular injuryThrombotic microangiopathyTubular injuryEndothelial injuryPossible life-threatening complicationsDirect toxic injuryIncidence of AKIInitial gastrointestinal symptomsLife-threatening complicationsTypical clinical courseDiethylene glycol poisoningPeripheral sensorimotor neuropathyHigh mortality rateDiethylene glycol ingestionGastrointestinal symptomsClinical courseKidney biopsyGlycol ingestionSensorimotor neuropathyGlycol poisoningPathological lesionsToxic injuryGenetic predispositionUnusual caseMortality ratePsychosocial moderators of polygenic risk scores of inflammatory biomarkers in relation to GrimAge
Tamman A, Koller D, Nagamatsu S, Cabrera-Mendoza B, Abdallah C, Krystal J, Gelernter J, Montalvo-Ortiz J, Polimanti R, Pietrzak R. Psychosocial moderators of polygenic risk scores of inflammatory biomarkers in relation to GrimAge. Neuropsychopharmacology 2023, 49: 699-708. PMID: 37848731, PMCID: PMC10876568, DOI: 10.1038/s41386-023-01747-5.Peer-Reviewed Original ResearchPolygenic risk scoresRisk scoreGenetic predispositionModifiable psychosocial variablesAge-related morbidityGamma-glutamyl transferaseInflammatory biomarkersSystemic inflammationNational HealthApolipoprotein BMale veteransPsychosocial factorsVeterans StudySaliva samplesPsychosocial moderatorsPsychosocial variablesAntihistamine drugsMilitary veteransGrimAgeGrimAge accelerationInflammationUK BiobankDrugsRepresentative samplePredispositionT15. THE ADDITIVE VALUE OF BRAIN LIFESTYLE IN THE EXPLANATORY ABILITY OF POLYGENIC RISK PROFILES ON COGNITIVE PERFORMANCE IN AGING INDIVIDUALS
Zhang Y, Gülöksüz S, Stehouwer C, Greevenbroek M, Köhler S, Eussen S, Bosma H, Boxtel M, Schram M, Linden D, Rutten B, Blokland G. T15. THE ADDITIVE VALUE OF BRAIN LIFESTYLE IN THE EXPLANATORY ABILITY OF POLYGENIC RISK PROFILES ON COGNITIVE PERFORMANCE IN AGING INDIVIDUALS. European Neuropsychopharmacology 2023, 75: s169-s170. DOI: 10.1016/j.euroneuro.2023.08.303.Peer-Reviewed Original ResearchPolygenic risk scoresCognitive domainsCognitive functionHeritability of cognitive functionsEffect of polygenic risk scoresEnvironmental influencesThe Maastricht StudyPotential cognitive deficitsOverall cognitive functionBrain health indexImpact cognitive healthRisk factorsGenetic predispositionGene-environment interactionsCardio-metabolic diseasesLIBRA scoresNon-adjusted modelCognitive phenotypesCognitive deficitsCognitive performanceCognitive healthLifestyle factorsOverall cognitionBrain structuresMental healthEggerthella lenta augments preclinical autoantibody production and metabolic shift mimicking senescence in arthritis
Balakrishnan B, Luckey D, Wright K, Davis J, Chen J, Taneja V. Eggerthella lenta augments preclinical autoantibody production and metabolic shift mimicking senescence in arthritis. Science Advances 2023, 9: eadg1129. PMID: 37656793, PMCID: PMC10854426, DOI: 10.1126/sciadv.adg1129.Peer-Reviewed Original ResearchConceptsRheumatoid arthritisSevere diseaseAugmented antibody responsesCD4 T cellsHumanized mouse modelOnset of symptomsCollagen-induced arthritisAssociated with several diseasesNaive miceT cellsAutoantibody productionFemale miceB cellsEtiology of rheumatoid arthritisInterleukin-17Genetic predispositionMouse modelRheumatoid factorAntibody responseIncreased CXCL5RA severityGut dysbiosisArthritisBile acidsEggerthella lentaGenetic Susceptibility to Nonalcoholic Fatty Liver Disease and Risk for Pancreatic Cancer: Mendelian Randomization.
King S, Veliginti S, Brouwers M, Ren Z, Zheng W, Setiawan V, Wilkens L, Shu X, Arslan A, Beane Freeman L, Bracci P, Canzian F, Du M, Gallinger S, Giles G, Goodman P, Haiman C, Kogevinas M, Kooperberg C, LeMarchand L, Neale R, Visvanathan K, White E, Albanes D, Andreotti G, Babic A, Berndt S, Brais L, Brennan P, Buring J, Rabe K, Bamlet W, Chanock S, Fuchs C, Gaziano J, Giovannucci E, Hackert T, Hassan M, Katzke V, Kurtz R, Lee I, Malats N, Murphy N, Oberg A, Orlow I, Porta M, Real F, Rothman N, Sesso H, Silverman D, Thompson I, Wactawski-Wende J, Wang X, Wentzensen N, Yu H, Zeleniuch-Jacquotte A, Yu K, Wolpin B, Duell E, Li D, Hung R, Perdomo S, McCullough M, Freedman N, Patel A, Peters U, Riboli E, Sund M, Tjønneland A, Zhong J, Van Den Eeden S, Kraft P, Risch H, Amundadottir L, Klein A, Stolzenberg-Solomon R, Antwi S. Genetic Susceptibility to Nonalcoholic Fatty Liver Disease and Risk for Pancreatic Cancer: Mendelian Randomization. Cancer Epidemiology Biomarkers & Prevention 2023, 32: 1265-1269. PMID: 37351909, PMCID: PMC10529823, DOI: 10.1158/1055-9965.epi-23-0453.Peer-Reviewed Original ResearchConceptsNonalcoholic fatty liver diseasePancreatic cancer riskFatty liver diseasePancreatic cancerCancer riskLiver diseaseGenetic predispositionMendelian randomizationPancreatic Cancer Case-Control ConsortiumConfidence intervalsPancreatic Cancer Cohort ConsortiumPC risk factorsMR methodsRisk factorsGenome-wide association studiesGenetic susceptibilityLogistic regressionCancerMetabolic perturbationsMetabolic conditionsRiskDiseaseGenetic variantsAssociationPredispositionInterrogating the Etiology of Sporadic Alzheimer’s Disease Using Aging Rhesus Macaques: Cellular, Molecular, and Cortical Circuitry Perspectives
Datta D. Interrogating the Etiology of Sporadic Alzheimer’s Disease Using Aging Rhesus Macaques: Cellular, Molecular, and Cortical Circuitry Perspectives. The Journals Of Gerontology Series A 2023, 78: 1523-1534. PMID: 37279946, PMCID: PMC10460555, DOI: 10.1093/gerona/glad134.Peer-Reviewed Original ResearchConceptsPrimate dorsolateral prefrontal cortexSporadic Alzheimer's diseaseAlzheimer's diseaseDorsolateral prefrontal cortexRhesus macaquesPrefrontal cortexSignificant risk factorsHuman Alzheimer's diseaseAspartic acid (NMDA) receptorsNonhuman primate modelNovel therapeutic strategiesCalcium-buffering proteinsPattern of pathologyInflammatory cascadeTau pathologyNeuropathological cascadeSynaptic dysfunctionRisk factorsPrimate modelNeurofibrillary tanglesAmyloid plaquesDendritic spinesTherapeutic strategiesGenetic predispositionAnimal models
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