2025
Exercise Pulmonary Hypertension and Beyond: Insights in Exercise Pathophysiology in Pulmonary Arterial Hypertension (PAH) from Invasive Cardiopulmonary Exercise Testing
Tarras E, Singh I, Kreiger J, Joseph P. Exercise Pulmonary Hypertension and Beyond: Insights in Exercise Pathophysiology in Pulmonary Arterial Hypertension (PAH) from Invasive Cardiopulmonary Exercise Testing. Journal Of Clinical Medicine 2025, 14: 804. PMID: 39941482, PMCID: PMC11818252, DOI: 10.3390/jcm14030804.Peer-Reviewed Original ResearchInvasive cardiopulmonary exercise testingPulmonary arterial hypertensionCardiopulmonary exercise testingArterial hypertensionAssociated with pulmonary vascular remodelingExercise testRight heart failureExercise pulmonary hypertensionPulmonary vascular remodelingPulmonary hypertensionProgressive diseasePulmonary vasculatureTherapeutic optionsExercise pathophysiologyHigh morbidityHeart failureEarly diagnosisVascular remodelingTherapeutic approachesPersonalized treatmentHypertensionDisease subtypesDiagnosisSkeletal muscleDisease
2024
Enhancing patient representation learning with inferred family pedigrees improves disease risk prediction
Huang X, Arora J, Erzurumluoglu A, Stanhope S, Lam D, Arora J, Erzurumluoglu A, Lam D, Khoueiry P, Jensen J, Cai J, Lawless N, Kriegl J, Ding Z, de Jong J, Zhao H, Ding Z, Wang Z, de Jong J. Enhancing patient representation learning with inferred family pedigrees improves disease risk prediction. Journal Of The American Medical Informatics Association 2024, 32: 435-446. PMID: 39723811, PMCID: PMC11833479, DOI: 10.1093/jamia/ocae297.Peer-Reviewed Original ResearchConceptsElectronic health recordsDisease risk predictionElectronic health record researchFamily health historyGenetic aspects of diseaseRisk predictionInflammatory bowel disease subtypeHealth recordsHealth historyAspects of diseaseFamily relationsHealthcare ResearchPatient's disease riskInfluence of geneticsDisease riskDiagnosis dataFamily pedigreeEnvironmental exposuresRisk factorsDisease dependencyPatient representation learningClinical profileFamilyDisease subtypesRiskNew Treatment Approaches in Non-Muscle-Invasive Bladder Cancer
Kim S, Lerner S. New Treatment Approaches in Non-Muscle-Invasive Bladder Cancer. 2024, 439-456. DOI: 10.1007/978-3-031-68505-7_21.Peer-Reviewed Original ResearchNon-muscle-invasive bladder cancerBladder cancerBCG-unresponsive NMIBCProbability of response to treatmentUS Food and Drug AdministrationNew treatment approachesResponse to treatmentFood and Drug AdministrationNuclear gradeBC casesDrug AdministrationHigh riskTreatment approachesDisease subtypesMorphological appearanceDisease statesCancerDrug developmentTreatment
2022
Novel pathophysiological insights in autoimmune myasthenia gravis
Masi G, O’Connor K. Novel pathophysiological insights in autoimmune myasthenia gravis. Current Opinion In Neurology 2022, 35: 586-596. PMID: 35942663, PMCID: PMC9458626, DOI: 10.1097/wco.0000000000001088.Peer-Reviewed Reviews, Practice Guidelines, Standards, and Consensus StatementsConceptsAutoimmune myasthenia gravisMyasthenia gravisMG patientsClinical responseMuscle-specific tyrosine kinaseSpecific therapeutic strategiesNovel pathophysiological insightsMG pathologyMG subtypesAutoantibody repertoireTreatment optionsCancer immunotherapyPredictive biomarkersSuch therapyImmunological heterogeneityPathophysiological insightsMG phenotypeTherapeutic strategiesClinical observationsTherapeutic outcomesAcetylcholine receptorsDisease subtypesTherapeutic perspectivesSubtypesDevelopment of assaysRelationships between short-term ambient temperature exposure and kidney disease hospitalizations in the warm season in Vietnam: A case-crossover study
Chu L, Phung D, Crowley S, Dubrow R. Relationships between short-term ambient temperature exposure and kidney disease hospitalizations in the warm season in Vietnam: A case-crossover study. Environmental Research 2022, 209: 112776. PMID: 35074348, DOI: 10.1016/j.envres.2022.112776.Peer-Reviewed Original ResearchConceptsChronic kidney diseaseRisk of hospitalizationTubulo-interstitial diseaseKidney diseaseHospital admissionIndependent associationGlomerular diseaseDisease subtypesAmbient temperature exposureProvince-level hospitalsKidney disease outcomesCase-crossover studyExposure time windowsSingle-day lagsCase-crossover designAdverse health effectsAdditional independent associationsOdds ratioDisease outcomeHospitalizationAdmission dataConvincing associationCumulative associationDiseaseEpidemiologic research
2021
Elevated N-Linked Glycosylation of IgG V Regions in Myasthenia Gravis Disease Subtypes.
Mandel-Brehm C, Fichtner ML, Jiang R, Winton VJ, Vazquez SE, Pham MC, Hoehn KB, Kelleher NL, Nowak RJ, Kleinstein SH, Wilson MR, DeRisi JL, O'Connor KC. Elevated N-Linked Glycosylation of IgG V Regions in Myasthenia Gravis Disease Subtypes. The Journal Of Immunology 2021, 207: 2005-2014. PMID: 34544801, PMCID: PMC8492536, DOI: 10.4049/jimmunol.2100225.Peer-Reviewed Original ResearchConceptsMyasthenia gravisB-cell-mediated autoimmune diseasesBCR repertoireCell-mediated autoimmune diseaseTotal BCR repertoireTotal circulating IgGSubset of patientsB cell repertoireElevated NGene segment usageMG subtypesAutoimmune disordersAutoimmune diseasesHealthy donorsCell repertoireDisease subtypesDistinct subtypesReceptor repertoireAdaptive immune receptor repertoiresV regionsAutoantigen bindingPatientsSegment usageSubtypesImmune receptor repertoires
2020
Autoimmune Pathology in Myasthenia Gravis Disease Subtypes Is Governed by Divergent Mechanisms of Immunopathology
Fichtner ML, Jiang R, Bourke A, Nowak RJ, O’Connor K. Autoimmune Pathology in Myasthenia Gravis Disease Subtypes Is Governed by Divergent Mechanisms of Immunopathology. Frontiers In Immunology 2020, 11: 776. PMID: 32547535, PMCID: PMC7274207, DOI: 10.3389/fimmu.2020.00776.Peer-Reviewed Original ResearchConceptsLipoprotein receptor-related protein 4Chronic inflammatory demyelinating polyneuropathyMuSK myasthenia gravisMyasthenia gravisDisease subtypesPathogenic autoantibodiesNeuromyelitis opticaPemphigus vulgarisFab-arm exchangeNeuromuscular junctionAChR myasthenia gravisDistinct immune mechanismsInflammatory demyelinating polyneuropathyAutoimmune myasthenia gravisContribution of complementMuscle-specific kinaseNicotinic acetylcholine receptorsSubtype of diseaseDemyelinating polyneuropathyMG subtypesMG patientsAutoantibody productionClinical benefitAutoimmune diseasesAutoimmune pathologyAge-, sex- and disease subtype–related foetal growth differentials in childhood acute myeloid leukaemia risk: A Childhood Leukemia International Consortium analysis
Karalexi MA, Dessypris N, Ma X, Spector LG, Marcotte E, Clavel J, Pombo-de-Oliveira MS, Heck JE, Roman E, Mueller BA, Hansen J, Auvinen A, Lee PC, Schüz J, Magnani C, Mora AM, Dockerty JD, Scheurer ME, Wang R, Bonaventure A, Kane E, Doody DR, Group N, Baka M, Moschovi M, Polychronopoulou S, Kourti M, Hatzipantelis E, Pelagiadis I, Dana H, Kantzanou M, Tzanoudaki M, Anastasiou T, Grenzelia M, Gavriilaki E, Sakellari I, Anagnostopoulos A, Kitra V, Paisiou A, Bouka E, Group F, Nikkilä A, Lohi O, Erdmann F, Kang A, Metayer C, Milne E, Petridou E. Age-, sex- and disease subtype–related foetal growth differentials in childhood acute myeloid leukaemia risk: A Childhood Leukemia International Consortium analysis. European Journal Of Cancer 2020, 130: 1-11. PMID: 32163883, DOI: 10.1016/j.ejca.2020.01.018.Peer-Reviewed Original ResearchConceptsAcute myeloid leukemiaChildhood Leukemia International ConsortiumGestational ageFoetal growthInfant boyAcute myeloid leukemia riskMyeloid leukemia riskNewborn Growth ConsortiumRare childhood cancerBirth lengthGrowth markersChildhood cancerAML subtypesAML casesMyeloid leukemiaLeukemia riskNull associationDisease subtypesInternational FetalAgeMore studiesConsortium analysisLeukemiaSexBoys
2019
A clonal expression biomarker associates with lung cancer mortality
Biswas D, Birkbak N, Rosenthal R, Hiley C, Lim E, Papp K, Boeing S, Krzystanek M, Djureinovic D, La Fleur L, Greco M, Döme B, Fillinger J, Brunnström H, Wu Y, Moore D, Skrzypski M, Abbosh C, Litchfield K, Al Bakir M, Watkins T, Veeriah S, Wilson G, Jamal-Hanjani M, Moldvay J, Botling J, Chinnaiyan A, Micke P, Hackshaw A, Bartek J, Csabai I, Szallasi Z, Herrero J, McGranahan N, Swanton C. A clonal expression biomarker associates with lung cancer mortality. Nature Medicine 2019, 25: 1540-1548. PMID: 31591602, PMCID: PMC6984959, DOI: 10.1038/s41591-019-0595-z.Peer-Reviewed Original ResearchConceptsNon-small cell lung cancerClinicopathological risk factorsCell lung cancerLung cancer mortalityPrognostic gene expression signaturesCancer cell proliferationGene expression signaturesCancer mortalityLung cancerRisk factorsExpression-based biomarkersCopy number gainsDisease subtypesClinical descriptorsTranscriptomic biomarkersIndividual tumorsCancer typesDiagnostic precisionMolecular biomarkersExpression signaturesCell proliferationDNA copy number gainsBiomarkersPatientsIntratumor heterogeneity
2018
Risk thresholds for alcohol consumption: combined analysis of individual-participant data for 599 912 current drinkers in 83 prospective studies
Wood AM, Kaptoge S, Butterworth AS, Willeit P, Warnakula S, Bolton T, Paige E, Paul DS, Sweeting M, Burgess S, Bell S, Astle W, Stevens D, Koulman A, Selmer RM, Verschuren WMM, Sato S, Njølstad I, Woodward M, Salomaa V, Nordestgaard BG, Yeap BB, Fletcher A, Melander O, Kuller LH, Balkau B, Marmot M, Koenig W, Casiglia E, Cooper C, Arndt V, Franco OH, Wennberg P, Gallacher J, de la Cámara AG, Völzke H, Dahm CC, Dale CE, Bergmann MM, Crespo CJ, van der Schouw YT, Kaaks R, Simons LA, Lagiou P, Schoufour JD, Boer JMA, Key TJ, Rodriguez B, Moreno-Iribas C, Davidson KW, Taylor JO, Sacerdote C, Wallace RB, Quiros JR, Tumino R, Blazer DG, Linneberg A, Daimon M, Panico S, Howard B, Skeie G, Strandberg T, Weiderpass E, Nietert PJ, Psaty BM, Kromhout D, Salamanca-Fernandez E, Kiechl S, Krumholz HM, Grioni S, Palli D, Huerta JM, Price J, Sundström J, Arriola L, Arima H, Travis RC, Panagiotakos DB, Karakatsani A, Trichopoulou A, Kühn T, Grobbee DE, Barrett-Connor E, van Schoor N, Boeing H, Overvad K, Kauhanen J, Wareham N, Langenberg C, Forouhi N, Wennberg M, Després JP, Cushman M, Cooper JA, Rodriguez CJ, Sakurai M, Shaw JE, Knuiman M, Voortman T, Meisinger C, Tjønneland A, Brenner H, Palmieri L, Dallongeville J, Brunner EJ, Assmann G, Trevisan M, Gillum RF, Ford I, Sattar N, Lazo M, Thompson SG, Ferrari P, Leon DA, Smith GD, Peto R, Jackson R, Banks E, Di Angelantonio E, Danesh J, Group E, Wood A, Kaptoge S, Butterworth A, Willeit P, Warnakula S, Bolton T, Paige E, Paul D, Sweeting M, Burgess S, Bell S, Astle W, Stevens D, Koulman A, Selmer R, Verschuren M, Sato S, Njølstad I, Woodward M, Veikko S, Nordestgaard B, Yeap B, Flecther A, Melander O, Kuller L, Balkau B, Marmot M, Koenig W, Casiglia E, Cooper C, Arndt V, Franco O, Wennberg P, Gallacher J, de la Cámara A, Völzke H, Dahm C, Dale C, Bergmann M, Crespo C, van der Schouw Y, Kaaks R, Simons L, Lagiou P, Schoufour J, Boer J, Key T, Rodriguez B, Moreno-Iribas C, Davidson K, Taylor J, Sacerdote C, Wallace R, Quiros J, Rimm E, Tumino R, Blazer D, Linneberg A, Daimon M, Panico S, Howard B, Skeie G, Salomaa V, Strandberg T, Weiderpass E, Nietert P, Psaty B, Kromhout D, Salamanca-Fernandez E, Kiechl S, Krumholz H, Grioni S, Palli D, Huerta J, Price J, Sundström J, Arriola L, Arima H, Travis R, Panagiotakos D, Karakatsani A, Trichopoulou A, Kühn T, Grobbee D, Barrett-Connor E, van Schoor N, Boeing H, Overvad K, Kauhanen J, Wareham N, Langenberg C, Forouhi N, Wennberg M, Després J, Cushman M, Cooper J, Rodriguez C, Sakurai M, Shaw J, Knuiman M, Voortman T, Meisinger C, Tjønneland A, Brenner H, Palmieri L, Dallongeville J, Brunner E, Assmann G, Trevisan M, Gillumn R, Ford I, Sattar N, Lazo M, Thompson S, Ferrari P, Leon D, Smith G, Peto R, Jackson R, Banks E, Di Angelantonio E, Danesh J. Risk thresholds for alcohol consumption: combined analysis of individual-participant data for 599 912 current drinkers in 83 prospective studies. The Lancet 2018, 391: 1513-1523. PMID: 29676281, PMCID: PMC5899998, DOI: 10.1016/s0140-6736(18)30134-x.Peer-Reviewed Original ResearchConceptsIndividual participant dataCardiovascular disease subtypesCause mortalityCurrent drinkersCardiovascular diseaseHazard ratioAlcohol consumptionMyocardial infarctionLower riskProspective studyHigh-income countriesDisease subtypesIncident cardiovascular disease eventsFatal aortic aneurysmsMinimum mortality riskTotal cardiovascular diseasePrevious cardiovascular diseaseCardiovascular disease eventsHistory of diabetesDose-response associationUK Medical Research CouncilAge 40 yearsAlcohol consumption amountBritish Heart FoundationWeeks of alcoholBreast cancer‐specific survival by age: Worse outcomes for the oldest patients
Freedman RA, Keating NL, Lin NU, Winer EP, Vaz‐Luis I, Lii J, Exman P, Barry WT. Breast cancer‐specific survival by age: Worse outcomes for the oldest patients. Cancer 2018, 124: 2184-2191. PMID: 29499074, PMCID: PMC5935594, DOI: 10.1002/cncr.31308.Peer-Reviewed Original ResearchConceptsBreast cancer-specific deathCancer-specific deathTriple-negative diseaseHuman epidermal growth factor receptor 2Epidermal growth factor receptor 2Growth factor receptor 2Breast cancer outcomesOlder patientsFactor receptor 2Breast cancerCancer outcomesReceptor 2Disease subtypesWorse breast cancer outcomesHR-positive diseaseCancer stage IEnd Results (SEER) dataAmerican Joint CommitteePopulation-based cohortStage of diseaseGray regression modelsAdjusted hazardClinical variablesDisease stageHigh risk69 Chemotherapy and HER2-Directed Therapy for Metastatic Breast Cancer
Waks A, Winer E. 69 Chemotherapy and HER2-Directed Therapy for Metastatic Breast Cancer. 2018, 885-906.e8. DOI: 10.1016/b978-0-323-35955-9.00069-6.Peer-Reviewed Original ResearchMetastatic breast cancerBreast cancerHER2-positive metastatic breast cancerTriple-negative breast cancerTriple-negative diseaseBRCA-deficient breast cancersUnderstanding of treatmentDistinct disease subtypesBrain metastasesOverall survivalSystemic therapyClinical efficacyNovel therapiesDisease subtypesTherapyCancerHER2ChemotherapyImportant advancesImmunotherapyPertuzumabPatientsMetastasisSubtypesDisease
2016
NR1H3 p.Arg415Gln Is Not Associated to Multiple Sclerosis Risk
Consortium T, Antel J, Ban M, Baranzini S, Barcellos L, Barizzone N, Beecham A, Berge T, Bernardinelli L, Booth D, Bos S, Buck D, Butkiewicz M, Celius E, Comabella M, Compston A, Dedham K, Cotsapas C, Alfonso S, De Jager P, Dubois B, Duquette P, Fontaine B, Gasperi C, Gil E, Goris A, Gourraud P, Graetz C, Gyllenberg A, Hadjigeorgiou G, Hafler D, Hribko D, Haines J, Harbo H, Hauser S, Warto S, Hawkins C, Hemmer B, Henry R, Hintzen R, Horakova D, Ivinson A, Howard M, Jelcic I, Kaskow B, Kira J, Kleinova P, Kockum I, Kucerova K, Lill C, Luessi F, Malhotra S, Martin R, Martinelli F, Matsushita T, McCabe C, McCauley J, Mescheriakkova J, Mitrovic M, Moen S, Montalban X, Muhlau M, Nakmura Y, Oksenberg J, Olsson T, Oturai A, Palotie A, Patsopoulos N, Pavlicova J, Pericak-Vance P, Piehl F, Rebeix I, Rioux J, Saarela J, Sawcer S, Sellebjerg F, Sondergaard H, Sorensen P, Sospedra M, Spurkland A, Stewart G, Taylor B, Uitterlinden A, Van Duijn C, Zipp F. NR1H3 p.Arg415Gln Is Not Associated to Multiple Sclerosis Risk. Neuron 2016, 92: 333-335. PMID: 27764667, PMCID: PMC5641967, DOI: 10.1016/j.neuron.2016.09.052.Peer-Reviewed Original ResearchConceptsPrimary progressive diseaseMultiple sclerosis riskProgressive diseaseMultiple sclerosisPatient's likelihoodDisease subtypesPatient collectionInsufficient sample sizeCommon variant associationsLow-frequency associationMendelian formsAssociationRecent studiesCertain individualsSample sizeVariant associationsSclerosisSubtypesDiseaseNeurons
2011
Induced pluripotent stem cell models from X‐linked adrenoleukodystrophy patients
Jang J, Kang H, Kim H, Kim JY, Huh YJ, Kim D, Yoo J, Lee J, Lim B, Lee J, Yoon T, Park I, Hwang D, Daley GQ, Kim D. Induced pluripotent stem cell models from X‐linked adrenoleukodystrophy patients. Annals Of Neurology 2011, 70: 402-409. PMID: 21721033, DOI: 10.1002/ana.22486.Peer-Reviewed Original ResearchMeSH KeywordsAdrenoleukodystrophyATP Binding Cassette Transporter, Subfamily DATP-Binding Cassette TransportersBrainCell DifferentiationDNAExcitatory Postsynaptic PotentialsFatty Acids, NonesterifiedHematopoietic Stem Cell TransplantationHumansHydroxymethylglutaryl-CoA Reductase InhibitorsInduced Pluripotent Stem CellsLovastatinNeuronsOligodendrogliaPhenotypePhenylbutyratesReverse Transcriptase Polymerase Chain ReactionConceptsChildhood cerebral ALDX-ALDVLCFA accumulationLong chain fatty acid levelsAppropriate animal model systemsSevere clinical manifestationsFatty acid levelsAnimal model systemsDisease-relevant phenotypesClinical manifestationsCerebral ALDABCD1 mutationsAdrenoleukodystrophy patientsDevelopment of therapeuticsHuman oligodendrocytesUnique cellular modelDisease subtypesAbnormal accumulationAccurate diagnosisPluripotent stem cell modelsOligodendrocytesNew therapeuticsAcid levelsOligodendrocyte differentiationStem cell model
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