2024
Dysregulation in keratinocytes drives systemic lupus erythematosus onset
Tian J, Shi L, Zhang D, Yao X, Zhao M, Kumari S, Lu J, Yu D, Lu Q. Dysregulation in keratinocytes drives systemic lupus erythematosus onset. Cellular & Molecular Immunology 2024, 22: 83-96. PMID: 39627610, PMCID: PMC11686216, DOI: 10.1038/s41423-024-01240-z.Peer-Reviewed Original ResearchSystemic lupus erythematosusDendritic cellsT cellsActivated CD4+ T cellsDisease onsetSystemic lupus erythematosus onsetCD4+ T cellsHallmarks of systemic lupus erythematosusHuman systemic lupus erythematosusSkin lesions of patientsEtiology of systemic lupus erythematosusEffector T cellsLocal draining lymph nodesActivated dendritic cellsDraining lymph nodesMultiorgan autoimmune disorderSystemic autoimmune diseaseLesions of patientsPeroxisome proliferator-activated receptor gammaImmune cell dysregulationProliferator-activated receptor gammaInterferon regulatory factor 3Type I interferonII-dependent mannerRegulatory factor 3Innate acting memory Th1 cells modulate heterologous diseases
Rakebrandt N, Yassini N, Kolz A, Schorer M, Lambert K, Goljat E, Brull A, Rauld C, Balazs Z, Krauthammer M, Carballido J, Peters A, Joller N. Innate acting memory Th1 cells modulate heterologous diseases. Proceedings Of The National Academy Of Sciences Of The United States Of America 2024, 121: e2312837121. PMID: 38838013, PMCID: PMC11181110, DOI: 10.1073/pnas.2312837121.Peer-Reviewed Original ResearchConceptsIFN-gAutoimmune model of multiple sclerosisIFN-g productionInnate-like responsesMemory Th1 cellsModel of multiple sclerosisResponse to IL-12T helper 1Heterologous challengeTh1 cellsAutoimmune modelsIL-33IL-12Immune memoryDisease onsetIL-18Viral infectionUnrelated diseaseMultiple sclerosisDiseaseEnhanced responseInfectionHeterologous diseasesCellsRechallengeAssociation between sinusitis and incident rheumatic diseases: a population-based study
Kronzer V, Davis J, Hanson A, Sparks J, Myasoedova E, Duarte-Garcia A, Hinze A, Makol A, Koster M, Vassallo R, Warrington K, Wright K, Crowson C. Association between sinusitis and incident rheumatic diseases: a population-based study. RMD Open 2024, 10 PMCID: PMC10806468, DOI: 10.1136/rmdopen-2023-003622.Peer-Reviewed Original ResearchAssociated with increased riskElectronic health record historyPopulation-based case-control studyPopulation-based studyRheumatic disease casesLogistic regression modelsCase-control studyRheumatic diseasesEstimate ORsIncidence of rheumatic diseasesNever smokersDiagnosis codesPrimary exposureAssociated with increased incidenceRegression modelsHigh riskMatched controlsDisease groupDisease casesAssociationDisease onsetIncidenceRiskRheumatoid arthritisNeverAssociation between sinusitis and incident rheumatic diseases: a population-based study
Kronzer V, Davis J, Hanson A, Sparks J, Myasoedova E, Duarte-Garcia A, Hinze A, Makol A, Koster M, Vassallo R, Warrington K, Wright K, Crowson C. Association between sinusitis and incident rheumatic diseases: a population-based study. RMD Open 2024, 10: e003622. PMID: 38388169, PMCID: PMC10895223, DOI: 10.1136/rmdopen-2023-003622.Peer-Reviewed Original ResearchConceptsAssociated with increased riskElectronic health record historyPopulation-based case-control studyPopulation-based studyRheumatic disease casesLogistic regression modelsCase-control studyRheumatic diseasesEstimate ORsIncidence of rheumatic diseasesNever smokersDiagnosis codesPrimary exposureAssociated with increased incidenceRegression modelsHigh riskMatched controlsDisease groupDisease casesAssociationDisease onsetIncidenceRiskRheumatoid arthritisNever
2023
Neurological sequelae of vaccines
McAlpine L, Zubair A. Neurological sequelae of vaccines. Neurological Sciences 2023, 44: 1505-1513. PMID: 36622478, PMCID: PMC9838503, DOI: 10.1007/s10072-022-06581-z.Peer-Reviewed Original ResearchConceptsGuillain-Barre syndromeInfectious diseasesNeurological sequelaeAcute disseminated encephalomyelitisSystemic immune activationMild adverse reactionsDisseminated encephalomyelitisLocal sorenessNeurologic sequelaeTransverse myelitisAdverse eventsRecent vaccinationImmune activationAdverse reactionsDisease onsetPotential pathogenesisSafe optionPotential treatmentEarly identificationVaccineSequelaeRapid diagnosisAdverse effectsTypical symptomsDisease
2022
A multiple sclerosis–protective coding variant reveals an essential role for HDAC7 in regulatory T cells
Axisa P, Yoshida T, Lucca L, Kasler H, Lincoln M, Pham G, Del Priore D, Carpier J, Lucas C, Verdin E, Sumida T, Hafler D. A multiple sclerosis–protective coding variant reveals an essential role for HDAC7 in regulatory T cells. Science Translational Medicine 2022, 14: eabl3651. PMID: 36516268, DOI: 10.1126/scitranslmed.abl3651.Peer-Reviewed Original ResearchConceptsExperimental autoimmune encephalitisRegulatory T cellsHistone deacetylase 7Multiple sclerosisT cellsMouse modelFunction of Foxp3CD4 T cellsHigher suppressive capacityVivo modelingAutoimmune encephalitisEAE severityImmunosuppressive subsetAutoimmune diseasesImmunomodulatory roleSuppressive capacityImmune cellsDisease onsetDistinct molecular classesSusceptibility lociGenetic susceptibility lociSingle-cell RNA sequencingDisease riskPatient samplesProtective variantsRenal tubular acidosis and associated factors in patients with primary Sjögren’s syndrome: a registry-based study
Zhang Y, Qiao L, Zhang L, Li Q, Yang P, Kong X, Duan X, Zhang M, Li X, Wang Y, Xu J, Wang Y, Hsieh E, Zhao J, Xu D, Li M, Zhao Y, Zeng X. Renal tubular acidosis and associated factors in patients with primary Sjögren’s syndrome: a registry-based study. Clinical Rheumatology 2022, 42: 431-441. PMID: 36383239, DOI: 10.1007/s10067-022-06426-2.Peer-Reviewed Original ResearchConceptsRenal tubular acidosisPrimary Sjögren's syndromePSS patientsEarly disease onsetDisease onsetRenal involvementSjögren's syndromeKidney functionTubular acidosisEULAR Sjögren's Syndrome Disease Activity IndexSjögren's Syndrome Disease Activity IndexMethodThis case-control studyElevated alkaline phosphatase levelsSubjective dry mouthDisease activity indexHigh disease activityGlomerular filtration rateRegistry-based studyErythrocyte sedimentation rateYoung female patientCase-control studyLogistic regression analysisAlkaline phosphatase levelsAntibody positivityDisease activityPhenotypic Heterogeneity among GBA p.R202X Carriers in Lewy Body Spectrum Disorders
Napolioni V, Fredericks CA, Kim Y, Channappa D, Khan RR, Kim LH, Zafar F, Couthouis J, Davidzon GA, Mormino EC, Gitler AD, Montine TJ, Schüle B, Greicius MD. Phenotypic Heterogeneity among GBA p.R202X Carriers in Lewy Body Spectrum Disorders. Biomedicines 2022, 10: 160. PMID: 35052839, PMCID: PMC8774039, DOI: 10.3390/biomedicines10010160.Peer-Reviewed Original ResearchLewy body spectrum disordersParkinson's diseaseDisease patientsPathogenic roleGlucocerebrosidase 1 (GBA1) geneLewy body dementiaEarly disease onsetSystematic literature searchGaucher disease patientsPhenotypic heterogeneityNeuropathologic evaluationNeuropathologic featuresPathological featuresDisease onsetClinical penetranceSpectrum disorderGBA p.Index caseGaucher diseaseLiterature searchUnaffected relativesPatientsDiseaseNonsense variantAffected subjects
2021
Candidate Glaucoma Biomarkers: From Proteins to Metabolites, and the Pitfalls to Clinical Applications
Cueto A, Álvarez L, García M, Álvarez-Barrios A, Artime E, Cueto L, Coca-Prados M, González-Iglesias H. Candidate Glaucoma Biomarkers: From Proteins to Metabolites, and the Pitfalls to Clinical Applications. Biology 2021, 10: 763. PMID: 34439995, PMCID: PMC8389649, DOI: 10.3390/biology10080763.Peer-Reviewed Original ResearchGlaucoma biomarkersRetinal ganglion cell deathGanglion cell deathProgression of glaucomaExpression of moleculesFuture diagnostic testsHuman eye tissuesOptic nerveSystemic biomarkersHuman glaucomaIntraocular pressureDisease onsetRisk factorsIrreversible blindnessEye diseaseEarly diagnosisGlaucomaPathogenic processesEye tissuesProgressive lossDiagnostic testsNeurodegenerative diseasesBiomarker candidatesMolecular biomarkersBiomarkersDelayed production of neutralizing antibodies correlates with fatal COVID-19
Lucas C, Klein J, Sundaram ME, Liu F, Wong P, Silva J, Mao T, Oh JE, Mohanty S, Huang J, Tokuyama M, Lu P, Venkataraman A, Park A, Israelow B, Vogels CBF, Muenker MC, Chang CH, Casanovas-Massana A, Moore AJ, Zell J, Fournier JB, Wyllie A, Campbell M, Lee A, Chun H, Grubaugh N, Schulz W, Farhadian S, Dela Cruz C, Ring A, Shaw A, Wisnewski A, Yildirim I, Ko A, Omer S, Iwasaki A. Delayed production of neutralizing antibodies correlates with fatal COVID-19. Nature Medicine 2021, 27: 1178-1186. PMID: 33953384, PMCID: PMC8785364, DOI: 10.1038/s41591-021-01355-0.Peer-Reviewed Original ResearchConceptsDeceased patientsAntibody levelsAntibody responseDisease severityAnti-S IgG levelsCOVID-19 disease outcomesFatal COVID-19Impaired viral controlWorse clinical progressionWorse disease severitySevere COVID-19Length of hospitalizationImmunoglobulin G levelsHumoral immune responseCoronavirus disease 2019COVID-19 mortalityCOVID-19Domain (RBD) IgGSeroconversion kineticsDisease courseIgG levelsClinical parametersClinical progressionHumoral responseDisease onset
2020
Population-Based Screening for Endometrial Cancer: Human vs. Machine Intelligence
Hart GR, Yan V, Huang GS, Liang Y, Nartowt BJ, Muhammad W, Deng J. Population-Based Screening for Endometrial Cancer: Human vs. Machine Intelligence. Frontiers In Artificial Intelligence 2020, 3: 539879. PMID: 33733200, PMCID: PMC7861326, DOI: 10.3389/frai.2020.539879.Peer-Reviewed Original ResearchAverage-risk womenEndometrial cancerRisk womenOvarian Cancer Screening TrialEndometrial cancer riskCancer Screening TrialPrimary care physiciansPopulation-based screeningCancer risk predictionHealth dataCare physiciansGynecologic oncologistsRisk stratificationDisease onsetPositive rateIndividual patientsCancer riskInvasive proceduresScreening TrialPersonal health dataEarly cancer detectionMortality rateEarly screeningFalse positive ratePrevious risk modelsEvaluation of brain and spinal cord lesion distribution criteria at disease onset in distinguishing NMOSD from MS and MOG antibody-associated disorder
Cai M, Zheng Y, Shen C, Yang F, Fang W, Zhang Y, Ding M. Evaluation of brain and spinal cord lesion distribution criteria at disease onset in distinguishing NMOSD from MS and MOG antibody-associated disorder. Multiple Sclerosis Journal 2020, 27: 871-882. PMID: 32672091, DOI: 10.1177/1352458520939008.Peer-Reviewed Original ResearchConceptsMyelin oligodendrocyte glycoprotein antibody-associated disorderNeuromyelitis optica spectrum disorderLongitudinally extensive transverse myelitisDifferentiate neuromyelitis optica spectrum disordersDisease onsetMultiple sclerosisAQP4-ab-seropositive neuromyelitis optica spectrum disorderLongitudinally extensive transverse myelitis lesionsDiagnostic performanceChinese populationAntibody-associated disordersAQP4-Ab seropositivityExtensive transverse myelitisEvaluation of brainVentricle lesionsTransverse myelitisRetrospective studyImaging criteriaPeriventricular lesionsAquaporin-4Finger lesionsLesionsDiseaseOnsetDisordersNeuropsychiatric symptoms and cognitive abilities over the initial quinquennium of Parkinson disease
Weintraub D, Caspell‐Garcia C, Simuni T, Cho HR, Coffey CS, Aarsland D, Alcalay RN, Barrett MJ, Chahine LM, Eberling J, Espay AJ, Hamilton J, Hawkins KA, Leverenz J, Litvan I, Richard I, Rosenthal LS, Siderowf A, York M, Initiative P. Neuropsychiatric symptoms and cognitive abilities over the initial quinquennium of Parkinson disease. Annals Of Clinical And Translational Neurology 2020, 7: 449-461. PMID: 32285645, PMCID: PMC7187707, DOI: 10.1002/acn3.51022.Peer-Reviewed Original ResearchConceptsParkinson's disease participantsNeuropsychiatric symptomsParkinson's diseaseHealthy controlsCognitive impairmentMedication useYear 5Anticholinergic medication useCross-sectional prevalenceParkinson's disease patientsHypnotic useDisease patientsNeuropsychiatric featuresDisease onsetAnnual visitsSymptomsDisorder subtypesAbsolute prevalenceDiseaseTime pointsPrevalenceBaselineImpairmentParticipantsOnset
2019
CXCR3+ T cells in multiple sclerosis correlate with reduced diversity of the gut microbiome
Choileáin SN, Kleinewietfeld M, Raddassi K, Hafler DA, Ruff WE, Longbrake EE. CXCR3+ T cells in multiple sclerosis correlate with reduced diversity of the gut microbiome. Journal Of Translational Autoimmunity 2019, 3: 100032. PMID: 32743517, PMCID: PMC7388357, DOI: 10.1016/j.jtauto.2019.100032.Peer-Reviewed Original ResearchInflammatory T cell subsetsCentral nervous systemT cell subsetsMultiple sclerosisT cellsGut microbiomeCell subsetsCNS-reactive T cellsRelapsing-remitting MS patientsGrey matter inflammationGut-immune axisExpression of CXCR3CD8 T cellsAltered gut microbiomeAutoreactive T cellsMultiple sclerosis correlateGut microbiome compositionInflammatory subsetMS pathogenesisMS patientsTh1 phenotypeAxonal degenerationAutoimmune diseasesCascade of eventsDisease onsetExamining the relationship between astrocyte dysfunction and neurodegeneration in ALS using hiPSCs
Halpern M, Brennand KJ, Gregory J. Examining the relationship between astrocyte dysfunction and neurodegeneration in ALS using hiPSCs. Neurobiology Of Disease 2019, 132: 104562. PMID: 31381978, PMCID: PMC6834907, DOI: 10.1016/j.nbd.2019.104562.Peer-Reviewed Original ResearchConceptsAmyotrophic lateral sclerosisAstrocyte dysfunctionNeurodegenerative diseasesRole of astrocytesNon-cell autonomous mechanismsFatal neurodegenerative diseaseRisk-associated genesAstrocytic dysfunctionNeural cell typesAstrocyte functionDisease onsetDisease progressionMotor neuronsLateral sclerosisTherapeutic interventionsDysfunctionDisease initiationGenetic factorsPotential targetProgressionAutonomous mechanismsDiseaseStem cellsNeurodegenerationCell types
2018
Acquisition of Early Developmental Milestones and Need for Special Education Services in Pediatric Multiple Sclerosis
Aaen G, Waltz M, Vargas W, Makhani N, Ness J, Harris Y, Casper TC, Benson L, Candee M, Chitnis T, Gorman M, Graves J, Greenberg B, Lotze T, Mar S, Tillema JM, Rensel M, Rodriguez M, Rose J, Rubin J, Schreiner T, Waldman A, Weinstock-Guttman B, Belman A, Waubant E, Krupp L. Acquisition of Early Developmental Milestones and Need for Special Education Services in Pediatric Multiple Sclerosis. Journal Of Child Neurology 2018, 34: 148-152. PMID: 30556452, PMCID: PMC6579723, DOI: 10.1177/0883073818815041.Peer-Reviewed Original ResearchConceptsPediatric multiple sclerosisMultiple sclerosisEarly developmental milestonesPediatric Multiple Sclerosis CentersPediatric-onset multiple sclerosisMultiple sclerosis onsetMultiple Sclerosis CenterDevelopmental milestonesPediatric controlsDisease onsetHealthy controlsSclerosisAge 18Age 11ChildrenOnsetIndividualized education planFurther researchControl119. Prospective Validation of a 3-Gene Signature for Tuberculosis Diagnosis, Predicting Progression and Evaluating Treatment Response
Warsinske H, Rao A, Moreira F, Dos Santos P, Liu A, Scott M, Malherbe S, Ronacher K, Walzl G, Winter J, Sweeney T, Croda J, Andrews J, Khatri P. 119. Prospective Validation of a 3-Gene Signature for Tuberculosis Diagnosis, Predicting Progression and Evaluating Treatment Response. Open Forum Infectious Diseases 2018, 5: s5-s5. PMCID: PMC6253029, DOI: 10.1093/ofid/ofy209.010.Peer-Reviewed Original ResearchNegative predictive valueTB scoreWorld Health OrganizationActive tuberculosisATB patientsCohort studyTriage testTreatment responseHigh negative predictive valueProspective cohort studyCase-control trialEnd of treatmentIndependent prospective cohortsAdolescent cohort studySputum positivityActive diseaseProspective cohortTreatment initiationSputum testDisease onsetProspective validationPET-CTPredicting ProgressionTuberculosis diagnosisPredictive valueCritical role of CD4+ T cells and IFNγ signaling in antibody-mediated resistance to Zika virus infection
Lucas CGO, Kitoko JZ, Ferreira FM, Suzart VG, Papa MP, Coelho SVA, Cavazzoni CB, Paula-Neto HA, Olsen PC, Iwasaki A, Pereira RM, Pimentel-Coelho PM, Vale AM, de Arruda LB, Bozza MT. Critical role of CD4+ T cells and IFNγ signaling in antibody-mediated resistance to Zika virus infection. Nature Communications 2018, 9: 3136. PMID: 30087337, PMCID: PMC6081430, DOI: 10.1038/s41467-018-05519-4.Peer-Reviewed Original ResearchConceptsT cellsZika virusMurine adoptive transfer modelParticipation of CD4Adoptive transfer modelT cell responsesImportance of CD4Protective adaptive immunityRapid disease onsetZika virus infectionFuture vaccine designAntibody-mediated resistanceCytotoxic CD8Viral loadZIKV infectionAntibody responsePrimary infectionRecipient miceDisease onsetVirus infectionProtective effectAdaptive immunityIFNγ signalingCD4B lymphocytesOP0224 Adamts-12 protects against inflammatory arthritis through interacting with proinflammatory ctgf
Fu W, Wei J, Hettinghouse A, He W, Liu C. OP0224 Adamts-12 protects against inflammatory arthritis through interacting with proinflammatory ctgf. Annals Of The Rheumatic Diseases 2018, 77: 160-161. DOI: 10.1136/annrheumdis-2018-eular.4748.Peer-Reviewed Original ResearchCollagen-induced arthritisClinical arthritis scoreInflammatory arthritisADAMTS-12Arthritis scoreCTGF antibodyIL-1βDisease onsetHistological analysisAccelerated disease onsetCIA mouse modelAnti-inflammatory cytokinesRheumatoid arthritis developmentPro-inflammatory roleFurther tissue destructionDestruction of boneSignificant increaseCritical regulatorCIA miceRA patientsArthritis developmentArthritis incidenceKO miceNormal inflammationSafranin O stainingSevere Leukoencephalopathy with Clinical Recovery Caused by Recessive BOLA3 Mutations
Stutterd C, Lake N, Peters H, Lockhart P, Taft R, van der Knaap M, Vanderver A, Thorburn D, Simons C, Leventer R. Severe Leukoencephalopathy with Clinical Recovery Caused by Recessive BOLA3 Mutations. JIMD Reports 2018, 43: 63-70. PMID: 29654549, PMCID: PMC6323033, DOI: 10.1007/8904_2018_100.Peer-Reviewed Original ResearchComplete clinical recoveryClinical recoveryClinical courseMRI abnormalitiesWhite matterTrio whole-genome sequencingBilateral T2 hyperintensitiesWhole-genome sequencingPatient's clinical courseDeep white matterFrontal white matterCompound heterozygous variantsRespiratory chain enzyme activitiesNovel disease-causing variantsCultured patient fibroblastsPatient fibroblastsMitochondrial respiratory chain enzyme activitiesAcute hemiplegiaT2 hyperintensityMultisystem diseaseSevere leukoencephalopathyDisease onsetGenetic leukoencephalopathiesNeurological regressionLactate levels
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