2025
Decoding the Epigenome: Comparative Analysis of Uterine Leiomyosarcoma and Leiomyoma
Pfaff M, Costa P, Tang H, Sailo B, Sharma A, Ahuja N. Decoding the Epigenome: Comparative Analysis of Uterine Leiomyosarcoma and Leiomyoma. Cancers 2025, 17: 2610. PMID: 40867239, PMCID: PMC12384543, DOI: 10.3390/cancers17162610.Peer-Reviewed Original ResearchUterine leiomyosarcomaUterine leiomyomaSmooth muscle tumorsClass I expressionTherapeutic targetDysregulation of signaling pathwaysHistone deacetylasesGlobal DNA hypomethylationMuscle tumorsExtracellular matrix accumulationPotential therapeutic targetTumor typesTumor pathogenesisHistone acetyltransferase activityI expressionClinical managementTumorWnt/b-cateninDNA hypomethylationPathway dysregulationMatrix accumulationDiagnostic biomarkersEpigenetic profilesMethylation patternsEpigenetic landscapeChikungunya Fever and Rheumatoid Arthritis: A Systematic Review and Meta-Analysis
Amaral J, Schoen R, Weinblatt M, Cândido E. Chikungunya Fever and Rheumatoid Arthritis: A Systematic Review and Meta-Analysis. Tropical Medicine And Infectious Disease 2025, 10: 54. PMID: 39998058, PMCID: PMC11861052, DOI: 10.3390/tropicalmed10020054.Peer-Reviewed Original ResearchChikungunya virus infectionRheumatoid arthritisChikungunya virusChikungunya feverChronic chikungunya arthritisRheumatology follow-upIncidence of RARisk of biasChikungunya arthritisAutoimmune mechanismsImmunological mechanismsFollow-upRA incidenceRA diagnosisDiagnostic criteriaRA developmentInfectionPRISMA guidelinesRe-emerging infectious diseasesLiterature searchDiagnostic biomarkersLong-term health impactsData extractionInfectious diseasesIncidence
2024
Unlocking the potential of miRNAs in detecting pulmonary tuberculosis: prospects and pitfalls
Arya R, Kumar S, Vinetz J, Kim J, Chaurasia R. Unlocking the potential of miRNAs in detecting pulmonary tuberculosis: prospects and pitfalls. Expert Reviews In Molecular Medicine 2024, 26: e32. PMID: 39639643, PMCID: PMC11629464, DOI: 10.1017/erm.2024.29.Peer-Reviewed Original ResearchConceptsDisease stageHIV Co-InfectionAnti-TB therapyPotential of miRNAsInfectious diseasesPulmonary TBPulmonary tuberculosisActive TBFalse-positive outcomesTB diagnosticsDisease progressionLack of specificityPrognostic signatureCo-InfectionLethal infectious diseaseDeadliest infectious diseasesPoint-of-care testingTuberculosisDiagnostic biomarkersStandard protocolDiseaseBiomarkersGene expressionNon-invasiveRegulatory roleIncorporation of the central vein sign into the McDonald criteria
Amin M, Nakamura K, Daboul L, O'Donnell C, Cao Q, Rodrigues P, Derbyshire J, Azevedo C, Bar-Or A, Caverzasi E, Calabresi P, Cree B, Freeman L, Henry R, Longbrake E, Oh J, Papinutto N, Pelletier D, Prčkovska V, Raza P, Ramos M, Samudralwar R, Schindler M, Sotirchos E, Sicotte N, Solomon A, Shinohara R, Reich D, Sati P, Ontaneda D. Incorporation of the central vein sign into the McDonald criteria. Multiple Sclerosis And Related Disorders 2024, 93: 106182. PMID: 39622133, PMCID: PMC11779579, DOI: 10.1016/j.msard.2024.106182.Peer-Reviewed Original ResearchCentral vein signDIS criteriaDiagnostic performanceMultiple sclerosisDeep white matter lesionsDiagnosis of multiple sclerosisMulti-center studyInternational multi-center studyWhite matter lesionsNorth American ImagingMcDonald criteriaProspective studyDiagnostic accuracyMRI disseminationDemyelinating diseaseBackground DiagnosisMS diagnosisDiagnostic biomarkersCompare sensitivityLesionsBrain locationsMethods DataBrain imagingBrainSignsNext‐generation biomarkers for alcohol consumption and alcohol use disorder diagnosis, prognosis, and treatment: A critical review
Clark S, Hartwell E, Choi D, Krystal J, Messing R, Ferguson L. Next‐generation biomarkers for alcohol consumption and alcohol use disorder diagnosis, prognosis, and treatment: A critical review. Alcohol Clinical And Experimental Research 2024, 49: 5-24. PMID: 39532676, PMCID: PMC11747793, DOI: 10.1111/acer.15476.Peer-Reviewed Original ResearchAlcohol use disorderRisk biomarkersAlcohol consumptionDiagnostic biomarkersAlcohol use disorder diagnosisAlcohol research fieldPredictive biomarkersAlcohol-related problemsMetabolomic informationUse disorderOmics-based biomarkersRegular drinkingClinical implicationsProblematic drinkingDisorder diagnosisBiomarkersNext-generation biomarkersRiskAcamprosateAlcoholPrognosisDiagnosisDrinkingMisdiagnosis of Multiple Sclerosis: Past, Present, and Future
Rjeily N, Solomon A. Misdiagnosis of Multiple Sclerosis: Past, Present, and Future. Current Neurology And Neuroscience Reports 2024, 24: 547-557. PMID: 39243340, DOI: 10.1007/s11910-024-01371-w.Peer-Reviewed Original ResearchMS diagnostic criteriaMultiple sclerosisDiagnostic criteriaCentral vein signParamagnetic rim lesionsAssociated with misdiagnosisRecent FindingsRecent studiesMS misdiagnosisMRI findingsEvaluating patientsSuspected MSDiagnostic accuracyRim lesionsFindingsRecent studiesImaging biomarkersMisdiagnosisDiagnostic biomarkersCommon disordersPatientsBiomarkersPotential strategyDiagnostic performance of central vein sign versus oligoclonal bands for multiple sclerosis
Toljan K, Daboul L, Raza P, Martin M, Cao Q, O’Donnell C, Rodrigues P, Derbyshire J, Azevedo C, Bar-Or A, Caverzasi E, Calabresi P, Cree B, Freeman L, Henry R, Longbrake E, Oh J, Papinutto N, Pelletier D, Samudralwar R, Schindler M, Sotirchos E, Sicotte N, Solomon A, Shinohara R, Reich D, Sati P, Ontaneda D. Diagnostic performance of central vein sign versus oligoclonal bands for multiple sclerosis. Multiple Sclerosis Journal 2024, 30: 1268-1277. PMID: 39234802, PMCID: PMC11421977, DOI: 10.1177/13524585241271988.Peer-Reviewed Original ResearchConceptsCentral vein signPositive predictive valueOligoclonal bandsDiagnostic performanceMS diagnosisCerebrospinal fluidMultiple sclerosisPredictive valueNegative predictive valueCerebrospinal fluid testingRadiological suspicionDiagnostic accuracyImaging biomarkersDiagnosisDiagnostic biomarkersMonthsSclerosisBiomarkersPilot studyBaselineSelection 3Multiple Sclerosis Diagnostic Delay and Misdiagnosis
Kaisey M, Solomon A. Multiple Sclerosis Diagnostic Delay and Misdiagnosis. Neurologic Clinics 2024, 42: 1-13. PMID: 37980109, DOI: 10.1016/j.ncl.2023.07.001.Peer-Reviewed Original ResearchConceptsMultiple sclerosis misdiagnosisPatients' clinical outcomesMS diagnostic criteriaMS symptomsClinical outcomesDiagnostic delayDiagnostic challengeDiagnostic criteriaMS misdiagnosisDiagnostic biomarkersAccurate diagnosisIncorrect diagnosisPatientsDiagnosisMisdiagnosisEducational effortsSymptoms
2023
miR-122 and miR-21 are Stable Components of miRNA Signatures of Early Lung Cancer after Validation in Three Independent Cohorts
Zyla J, Dziadziuszko R, Marczyk M, Sitkiewicz M, Szczepanowska M, Bottoni E, Veronesi G, Rzyman W, Polanska J, Widlak P. miR-122 and miR-21 are Stable Components of miRNA Signatures of Early Lung Cancer after Validation in Three Independent Cohorts. Journal Of Molecular Diagnostics 2023, 26: 37-48. PMID: 37865291, DOI: 10.1016/j.jmoldx.2023.09.010.Peer-Reviewed Original ResearchConceptsEarly lung cancerLung cancerLung cancer screening studyMiR-122MiR-21MiRNA signatureCancer screening studyLung cancer developmentPlasma miRNA signatureScreening studyIndependent cohortDiagnostic biomarkersPotential biomarkersCancer typesCohortCancer developmentCancerHealthy participantsMiR-144MiRNA panelDiagnostic potentialBiomarkersAdenocarcinomaDifferent cohortsMiRNAsIdentification and validation of urinary CXCL9 as a biomarker for diagnosis of acute interstitial nephritis
Moledina D, Obeid W, Smith R, Rosales I, Sise M, Moeckel G, Kashgarian M, Kuperman M, Campbell K, Lefferts S, Meliambro K, Bitzer M, Perazella M, Luciano R, Pober J, Cantley L, Colvin R, Wilson F, Parikh C. Identification and validation of urinary CXCL9 as a biomarker for diagnosis of acute interstitial nephritis. Journal Of Clinical Investigation 2023, 133: e168950. PMID: 37395276, PMCID: PMC10313360, DOI: 10.1172/jci168950.Peer-Reviewed Original ResearchConceptsUrinary CXCL9External validation cohortValidation cohortControl groupAIN diagnosisDiscovery cohortKidney tissueDiagnostic biomarkersAcute interstitial nephritisCXCL9 mRNA expressionAcute kidney injuryBiopsy-confirmed diagnosisAvailable clinical testsNational InstituteKidney injuryTubulointerstitial nephritisInterstitial nephritisKidney biopsyHistological confirmationHistological diagnosisTreatment optionsLymphocyte chemotaxisCXCL9MRNA expression differencesPatientsNeuroinflammation in Obsessive-Compulsive Disorder Sydenham Chorea, Pediatric Autoimmune Neuropsychiatric Disorders Associated with Streptococcal Infections, and Pediatric Acute Onset Neuropsychiatric Syndrome
Vreeland A, Thienemann M, Cunningham M, Muscal E, Pittenger C, Frankovich J. Neuroinflammation in Obsessive-Compulsive Disorder Sydenham Chorea, Pediatric Autoimmune Neuropsychiatric Disorders Associated with Streptococcal Infections, and Pediatric Acute Onset Neuropsychiatric Syndrome. Psychiatric Clinics Of North America 2023, 46: 69-88. PMID: 36740356, DOI: 10.1016/j.psc.2022.11.004.Peer-Reviewed Original ResearchConceptsPediatric acute-onset neuropsychiatric syndromePediatric autoimmune neuropsychiatric disordersAutoimmune neuropsychiatric disordersSydenham's choreaStreptococcal infectionNeuroinflammatory diseasesNeuropsychiatric syndromeNeuropsychiatric disordersSource of inflammationObsessive-compulsive disorderRheumatological diseasesBasal gangliaClinical trialsClinical dataMajor manifestationsDiagnostic biomarkersImmune systemDisordersDiseaseBehavioral disordersInflammationChoreaSyndromeInfectionFuture studiesCandidate diagnostic biomarkers for neurodevelopmental disorders in children and adolescents: a systematic review
Cortese S, Solmi M, Michelini G, Bellato A, Blanner C, Canozzi A, Eudave L, Farhat L, Højlund M, Köhler-Forsberg O, Leffa D, Rohde C, de Pablo G, Vita G, Wesselhoeft R, Martin J, Baumeister S, Bozhilova N, Carlisi C, Leno V, Floris D, Holz N, Kraaijenvanger E, Sacu S, Vainieri I, Ostuzzi G, Barbui C, Correll C. Candidate diagnostic biomarkers for neurodevelopmental disorders in children and adolescents: a systematic review. World Psychiatry 2023, 22: 129-149. PMID: 36640395, PMCID: PMC9840506, DOI: 10.1002/wps.21037.Peer-Reviewed Original ResearchAttention-deficit/hyperactivity disorderAutism spectrum disorderIntellectual disabilityLearning disordersTic disordersCommunication disordersSpectrum disorderNeurodevelopmental disordersEvidence of sensitizationNeurophysiological studiesDisordersGenome-wide association studiesMotor disordersReview of studiesPredictive valueSystematic review of studiesAdolescentsNegative predictive valuePositive predictive valueDiagnostic biomarkersSystematic reviewChildrenIncomplete accountAutismClinical practiceBiomarkers for acute kidney injury in children – where are we now?
Sandokji I, Greenberg J. Biomarkers for acute kidney injury in children – where are we now? Current Opinion In Pediatrics 2023, 35: 245-250. PMID: 36601976, DOI: 10.1097/mop.0000000000001217.Peer-Reviewed Original ResearchConceptsAcute kidney injuryNeutrophil Gelatinase-Associated LipocalinUrine neutrophil gelatinase-associated lipocalinInsulin-like growth factor binding protein 7AKI biomarkersKidney injuryGrowth factor binding protein 7AKI risk stratificationUrine tissue inhibitorGelatinase-Associated LipocalinBest discriminative valueBinding protein 7Early time pointsTubular injuryRisk stratificationTissue inhibitorDiagnostic biomarkersClinical modelMetalloproteinases 2Discriminative valueBiomarkersInjuryTime pointsProtein 7Modest Improvement
2022
Neural correlates of eye contact and social function in autism spectrum disorder
Hirsch J, Zhang X, Noah J, Dravida S, Naples A, Tiede M, Wolf J, McPartland J. Neural correlates of eye contact and social function in autism spectrum disorder. PLOS ONE 2022, 17: e0265798. PMID: 36350848, PMCID: PMC9645655, DOI: 10.1371/journal.pone.0265798.Peer-Reviewed Original ResearchConceptsAutism spectrum disorderDorsal parietal regionsNeural correlatesEye contactLive eyesNeural responsesSpectrum disorderAutism Diagnostic Observation ScheduleUnderlying neural correlatesSocial Responsiveness ScaleGold standard measureCentral diagnostic criterionDiagnostic criteriaDiagnostic biomarkersSRS-2ADOS-2Responsiveness ScaleObservation ScheduleParietal regionsPupillometry dataNeural systemsEyesNatural interactionDisordersCorrelatesEffect of GBCA Use on Detection and Diagnostic Performance of the Central Vein Sign: Evaluation Using a 3-T FLAIR* Sequence in Patients With Suspected Multiple Sclerosis.
Daboul L, O'Donnell CM, Cao Q, Amin M, Rodrigues P, Derbyshire J, Azevedo C, Bar-Or A, Caverzasi E, Calabresi P, Cree BAC, Freeman L, Henry RG, Longbrake EE, Nakamura K, Oh J, Papinutto N, Pelletier D, Samudralwar RD, Suthiphosuwan S, Schindler MK, Sotirchos ES, Sicotte NL, Solomon AJ, Shinohara RT, Reich DS, Ontaneda D, Sati P. Effect of GBCA Use on Detection and Diagnostic Performance of the Central Vein Sign: Evaluation Using a 3-T FLAIR* Sequence in Patients With Suspected Multiple Sclerosis. American Journal Of Roentgenology 2022, 220: 115-125. PMID: 35975888, PMCID: PMC10016223, DOI: 10.2214/ajr.22.27731.Peer-Reviewed Original ResearchConceptsWhite matter lesionsCentral vein signGBCA useMultiple sclerosisMS diagnosisVein signPostcontrast imagesGadolinium-based contrast agent administrationPilot study cohortDiagnostic performanceContrast agent administrationMcDonald criteriaInvestigational trialsStudy cohortMatter lesionsClinical dataClinical impactBrain MRIClinical practiceAgent administrationDiagnostic biomarkersMRI biomarkersPostcontrast FLAIRPrecontrast imagesSecondary analysis
2021
Central vein sign: A diagnostic biomarker in multiple sclerosis (CAVS-MS) study protocol for a prospective multicenter trial
Ontaneda D, Sati P, Raza P, Kilbane M, Gombos E, Alvarez E, Azevedo C, Calabresi P, Cohen JA, Freeman L, Henry RG, Longbrake EE, Mitra N, Illenberger N, Schindler M, Moreno-Dominguez D, Ramos M, Mowry E, Oh J, Rodrigues P, Chahin S, Kaisey M, Waubant E, Cutter G, Shinohara R, Reich DS, Solomon A, Sicotte NL, Cooperative N. Central vein sign: A diagnostic biomarker in multiple sclerosis (CAVS-MS) study protocol for a prospective multicenter trial. NeuroImage Clinical 2021, 32: 102834. PMID: 34592690, PMCID: PMC8482479, DOI: 10.1016/j.nicl.2021.102834.Peer-Reviewed Original ResearchConceptsCentral vein signDiagnosis of MSMultiple sclerosisDiagnostic biomarkersMcDonald criteriaVein signProspective multicenter trialCross-sectional studyNumerous cross-sectional studiesNorth American ImagingNeuroradiologist reviewMulticenter trialAtypical presentationMulticenter studyTypical presentationSectional studyStudy protocolClinical careMS lesionsCentral readersEcho-planar MRIDiagnostic criteriaMS misdiagnosisMRI biomarkersMajor causeSystematic Assessment of 10 Biomarker Candidates Focusing on α‐Synuclein‐Related Disorders
Schulz I, Kruse N, Gera R, Kremer T, Cedarbaum J, Barbour R, Zago W, Schade S, Otte B, Bartl M, Hutten S, Trenkwalder C, Mollenhauer B. Systematic Assessment of 10 Biomarker Candidates Focusing on α‐Synuclein‐Related Disorders. Movement Disorders 2021, 36: 2874-2887. PMID: 34363416, DOI: 10.1002/mds.28738.Peer-Reviewed Original ResearchConceptsGlial fibrillary acidic proteinCerebrospinal fluidChitinase-3-like protein 1Calcium-binding protein BUbiquitin C-terminal hydrolase L1Myeloid cells 2Neurofilament light chainObjective diagnostic biomarkersFibrillary acidic proteinNeurofilament heavy chainDiagnostic biomarker candidatesDiagnostic biomarkersClinical diagnosisTau proteinPhosphorylated aSynNeurodegenerative disordersAcidic proteinCells 2Α-synucleinBiomarker candidatesProtein 1Candidate markersAvailable kitsDisordersLight chainLipidomic Profiles of Plasma Exosomes Identify Candidate Biomarkers for Early Detection of Hepatocellular Carcinoma in Patients with Cirrhosis
Sanchez J, Jiao J, Kwan S, Veillon L, Warmoes M, Tan L, Odewole M, Rich N, Wei P, Lorenzi P, Singal A, Beretta L. Lipidomic Profiles of Plasma Exosomes Identify Candidate Biomarkers for Early Detection of Hepatocellular Carcinoma in Patients with Cirrhosis. Cancer Prevention Research 2021, 14: canprevres.0612.2021. PMID: 34253566, PMCID: PMC8546639, DOI: 10.1158/1940-6207.capr-20-0612.Peer-Reviewed Original ResearchConceptsLogistic regression analysisHCC exosomesCirrhotic patientsEarly detectionHepatocellular carcinomaCandidate biomarkersTumor developmentNoninvasive diagnostic biomarkersRegression analysisHCC surveillanceLipid profileEndocannabinoid signalingHCC diagnosisNovel biomarkersLipid classesDiagnostic biomarkersPlasma exosomesLipidomic profilesGlycerophospholipid metabolismHCCPatientsBiomarkersUntargeted lipidomicsCarcinomaDifferential effectsα-Fetoprotein mRNA in situ hybridisation is a highly specific marker of hepatocellular carcinoma: a multi-centre study
Lu SX, Huang YH, Liu LL, Zhang CZ, Yang X, Yang YZ, Shao CK, Li JM, Xie D, Zhang X, Jain D, Yun JP. α-Fetoprotein mRNA in situ hybridisation is a highly specific marker of hepatocellular carcinoma: a multi-centre study. British Journal Of Cancer 2021, 124: 1988-1996. PMID: 33824478, PMCID: PMC8184895, DOI: 10.1038/s41416-021-01363-4.Peer-Reviewed Original ResearchConceptsHepatocellular carcinomaHepatocytic lesionsDiagnosis of HCCLiver biopsy cohortHepatocyte paraffin 1Independent retrospective cohortsBenign liver lesionsMulti-center studyGood diagnostic valueNovel diagnostic biomarkersArginase-1 (Arg-1) proteinsΑ-fetoprotein mRNASurgical cohortRetrospective cohortBiopsy cohortHepPar-1Arg-1Liver lesionsDiagnostic biomarkersDiagnostic valueMalignancy lesionsLesionsGlypican3CohortSpecific markersCirculating Extracellular Vesicles Carrying Sphingolipid Cargo for the Diagnosis and Dynamic Risk Profiling of Alcoholic Hepatitis
Sehrawat T, Arab J, Liu M, Amrollahi P, Wan M, Fan J, Nakao Y, Pose E, Navarro‐Corcuera A, Dasgupta D, Liao C, He L, Mauer A, Avitabile E, Ventura‐Cots M, Bataller R, Sanyal A, Chalasani N, Heimbach J, Watt K, Gores G, Gines P, Kamath P, Simonetto D, Hu T, Shah V, Malhi H. Circulating Extracellular Vesicles Carrying Sphingolipid Cargo for the Diagnosis and Dynamic Risk Profiling of Alcoholic Hepatitis. Hepatology 2021, 73: 571-585. PMID: 32246544, PMCID: PMC7541595, DOI: 10.1002/hep.31256.Peer-Reviewed Original ResearchConceptsEnd-stage liver diseaseAlcohol-associated cirrhosisAlcoholic hepatitisAH subjectsHealthy controlsHeavy drinkersLiver diseaseEtiology of ESLDEV concentrationEnd-stage liver disease (MELD) scoreExtracellular vesiclesRisk profilingPathogenesis of AHLiver Disease scoreCholestatic liver diseaseNonalcoholic steatohepatitisRisk stratificationClinical criteriaPrognostic performanceDisease scoreDiagnostic biomarkersDisease controlEV countsDiseaseDrinkers
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