2025
Secretory leukocyte protease inhibitor influences periarticular joint inflammation in Borrelia burgdorferi-infected mice
Yu Q, Tang X, Hart T, Homer R, Belperron A, Bockenstedt L, Ring A, Nakamura A, Fikrig E. Secretory leukocyte protease inhibitor influences periarticular joint inflammation in Borrelia burgdorferi-infected mice. ELife 2025, 14: rp104913. PMID: 40392222, PMCID: PMC12092001, DOI: 10.7554/elife.104913.Peer-Reviewed Original ResearchConceptsSecretory leukocyte protease inhibitorJoint inflammationC57BL/6 miceHigher infection loadTick-borne infectionsWild-type control miceClinical manifestations of infectionDevelopment of Lyme arthritisElevated serum levelsExcessive pro-inflammatory responsesManifestations of infectionProtease inhibitorsPro-inflammatory responseAnkle joint tissueInfection loadPromote tissue repairAnti-inflammatory effectsSerum levelsPeriarticular swellingClinical manifestationsControl miceTibiotarsal jointMMP-8Lyme diseaseIL-6Secretory leukocyte protease inhibitor influences periarticular joint inflammation in Borrelia burgdorferi-infected mice
Yu Q, Tang X, Hart T, Homer R, Belperron A, Bockenstedt L, Ring A, Nakamura A, Fikrig E. Secretory leukocyte protease inhibitor influences periarticular joint inflammation in Borrelia burgdorferi-infected mice. ELife 2025, 14 DOI: 10.7554/elife.104913.4.Peer-Reviewed Original ResearchSecretory leukocyte protease inhibitorSLPI-deficient miceJoint inflammationC57BL/6 miceDeficient miceB. burgdorferiHigher infection loadTick-borne infectionsWild-type control miceDeficient C57BL/6 miceClinical manifestations of infectionDevelopment of Lyme arthritisElevated serum levelsExcessive pro-inflammatory responsesManifestations of infectionProtease inhibitorsPro-inflammatory responseAnkle joint tissueInfection loadPromote tissue repairAnti-inflammatory effectsSerum levelsPeriarticular swellingClinical manifestationsControl miceCharacterizing the Social Epigenome in Mexican Patients with Early-Onset Psychosis
Ruiz-Ramos D, Martínez-Magaña J, Juárez-Rojop I, Nolasco-Rosales G, Sosa-Hernández F, Cruz-Castillo J, Cavazos J, Callejas A, Zavaleta-Ramírez P, Zorrilla-Dosal J, Lanzagorta N, Nicolini H, Montalvo-Ortiz J, Glahn D, Genis-Mendoza A. Characterizing the Social Epigenome in Mexican Patients with Early-Onset Psychosis. Genes 2025, 16: 591. PMID: 40428414, PMCID: PMC12111507, DOI: 10.3390/genes16050591.Peer-Reviewed Original ResearchConceptsEarly-onset psychosisRisk scoreEpigenetic ageEpigenome-wide association studiesAssociation studiesYears of educationShort life expectancyMexican patientsPsychiatric admissionsAssociation of DNA methylationSocial epigenomicsYears of schoolingAccelerated epigenetic agingLife expectancyAssociated with panic disorderEnvironmental exposuresEarly-onsetGlobal functioningClinical characteristicsClinical manifestationsDNA methylationAgeEpigenetic mechanismsPsychosisManifestation of psychosisNavigating the dynamic landscape of lower-risk MDS: Advances and emerging insights
Mina A, Madanat Y, Abaza Y, Zeidan A. Navigating the dynamic landscape of lower-risk MDS: Advances and emerging insights. Blood Reviews 2025, 101301. PMID: 40450506, DOI: 10.1016/j.blre.2025.101301.Peer-Reviewed Original ResearchAcute myeloid leukemiaLR-MDSErythropoiesis stimulating agentsIncreased risk of transformation to acute myeloid leukemiaMolecular International Prognostic Scoring SystemRisk of transformation to acute myeloid leukemiaTransformation to acute myeloid leukemiaAllogeneic hematopoietic stem cell transplantationInternational Prognostic Scoring SystemHematopoietic stem cell transplantationClonal myeloid malignanciesPrognostic Scoring SystemStem cell transplantationPredominant clinical manifestationLowered riskClinical trial designIneffective hematopoiesisCurative optionMyeloid malignanciesCell transplantationIndolent natureTransfusion supportImprove patient outcomesMyeloid leukemiaClinical manifestationsAssociation of clinical manifestations and immune alterations with genetic variants of uncertain significance in patients concerned for inborn errors of immunity
Novotny S, Yoo N, Chen J, Granoth M, Kohli-Pamnani A, Hsu F, Rodenas M, Steele R, Kaman K, Soffer G, Price C, Kuster J, Kang I, Osmani L, Shin J. Association of clinical manifestations and immune alterations with genetic variants of uncertain significance in patients concerned for inborn errors of immunity. Clinical Immunology 2025, 277: 110513. PMID: 40354868, DOI: 10.1016/j.clim.2025.110513.Peer-Reviewed Original ResearchInborn errors of immunityErrors of immunityGenetic variantsInborn errorsAssociation of clinical manifestationsGene clusterGene functionStudy evaluated associationsImmune alterationsDiagnostic challengeClinical manifestationsImmunological profileGenetic testingVUSGenesImmunological characteristicsImmune functionLaboratory dataImmunityVariantsAssociationPatientsRapid Metagenomic Sequencing (RaMSes) of Bronchoalveolar Lavage Fluid for Diagnosis of Infection in Patients with Hematologic Malignancies and Pulmonary Complications
Hensley M, Sayed K, Haidar G, Wang X, Benos P, Ito S, Im A, Geramita E, Shlomchik W, Methé B, Dela Cruz C, Morris A, Kitsios G. Rapid Metagenomic Sequencing (RaMSes) of Bronchoalveolar Lavage Fluid for Diagnosis of Infection in Patients with Hematologic Malignancies and Pulmonary Complications. CHEST Pulmonary 2025, 100173. DOI: 10.1016/j.chpulm.2025.100173.Peer-Reviewed Original ResearchPulmonary complicationsHematologic malignanciesRespiratory pathogensCulture-independent sequencing approachesDetection of fungal pathogensNon-infectious pulmonary complicationsSuspected lower respiratory tract infectionLower respiratory tract infectionsCulture-independent sequencing methodsRespiratory tract infectionsBronchoalveolar lavage fluidDiagnosis of infectionEmpirical antimicrobialsPCR-based testsTract infectionsFungal pathogensMetagenomic sequencingClinical manifestationsSequencing approachLavage fluidMicrobial communitiesCohort studySequencing methodsPatientsComplicationsParkinson’s disease is characterized by vitamin B6-dependent inflammatory kynurenine pathway dysfunction
Wilson E, Umans J, Swarovski M, Minhas P, Mendiola J, Midttun Ø, Ulvik A, Shahid-Besanti M, Linortner P, Mhatre S, Wang Q, Channappa D, Corso N, Tian L, Fredericks C, Kerchner G, Plowey E, Cholerton B, Ueland P, Zabetian C, Gray N, Quinn J, Montine T, Sha S, Longo F, Wolk D, Chen-Plotkin A, Henderson V, Wyss-Coray T, Wagner A, Mormino E, Aghaeepour N, Poston K, Andreasson K. Parkinson’s disease is characterized by vitamin B6-dependent inflammatory kynurenine pathway dysfunction. Npj Parkinson's Disease 2025, 11: 96. PMID: 40287426, PMCID: PMC12033312, DOI: 10.1038/s41531-025-00964-7.Peer-Reviewed Original ResearchCerebral spinal fluidKynurenine pathwayKynurenic acidQuinolinic acidSites of brainB-vitamin statusParkinson's diseasePD clinical featuresVitamin B6 deficiencyKP metabolitesClinical featuresClinical manifestationsCerebral inflammationClinical symptomsPatient subgroupsB6 deficiencySpinal fluidPathway dysfunctionKynurenineCompare bloodDiseaseInflammationVitaminIncreased QASoluble TREM2Rosai-Dorfman Disease: A Case Series Illustrating CNS Involvement Characterized by Distinct Clinical Manifestations (P1-6.018)
Pennetti S, Fulbright R, Baehring J. Rosai-Dorfman Disease: A Case Series Illustrating CNS Involvement Characterized by Distinct Clinical Manifestations (P1-6.018). Neurology 2025, 104 DOI: 10.1212/wnl.0000000000211556.Peer-Reviewed Original ResearchCNS involvementClinical manifestationsBiomarkers in Autosomal Dominant Tubulointerstitial Kidney Disease
Li M, Jiang L, Liu Z, You R, Li Y, Xiang C, Yang L, Zhang H, Zhou X. Biomarkers in Autosomal Dominant Tubulointerstitial Kidney Disease. Integrative Medicine In Nephrology And Andrology 2025, 12 DOI: 10.1097/imna-d-24-00050.Peer-Reviewed Original ResearchAutosomal dominant tubulointerstitial kidney diseaseChronic kidney diseaseTubulointerstitial kidney diseaseKidney diseaseProgressive chronic kidney diseaseDelay kidney failureVariable clinical featuresUric acid levelsControl blood pressureRenal interstitial fibrosisImprove patient outcomesPotential therapeutic targetClinical featuresClinical manifestationsTreatment optionsInterstitial fibrosisInsidious onsetClinical indicationsDisease progressionTubular proteinuriaEarly diagnosisBlood pressurePathological featuresAdvanced stageKidney failureSocial functioning and frontal alpha asymmetry in schizophrenia
Farina E, Assaf M, Corbera S, Choi J, Yantz C, Chen C. Social functioning and frontal alpha asymmetry in schizophrenia. Journal Of Psychiatric Research 2025, 182: 74-82. PMID: 39799666, PMCID: PMC11830537, DOI: 10.1016/j.jpsychires.2025.01.006.Peer-Reviewed Original ResearchConceptsFrontal alpha asymmetryAutism spectrum disorderReduced social functioningSocial functioningNeurophysiological markersAlpha asymmetryPsychiatric disordersAtypical social behaviorUnique to schizophreniaSelf-report measuresHealthy controlsResting-state electroencephalogramClinical interviewPsychiatric diagnosisSchizophreniaSpectrum disorderDiagnostic groupsReduced motivationSocial behaviorDisordersEmotional tendencyAnalysis of varianceClinical manifestationsElectroencephalogramAutismPhenotype Spectrum of TRPM3‐Associated Disorders
Jolitz L, Helbig I, Fitzgerald M, Ruggiero S, Cohen S, Angelini C, Vallespin E, Michaud V, Gerasimenko A, Cogne B, Isidor B, Keren B, Dyment D, Heron D, Karstensen H, Cuppen I, Christodoulou J, Wilson M, Lake N, Biskup S, Syrbe S, Mori T, Becker L, Kaindl A. Phenotype Spectrum of TRPM3‐Associated Disorders. Annals Of Neurology 2025, 97: 561-570. PMID: 39749750, PMCID: PMC11831877, DOI: 10.1002/ana.27141.Peer-Reviewed Original ResearchConceptsEffective anti-seizure medicationDevelopmental delayGain-of-function variantsDevelopmental delay/intellectual disabilitySpike wave activityAnti-seizure medicationsPreponderance of girlsSystematic literature searchOcular involvementMedian ageMusculoskeletal anomaliesClinical spectrumAxial hypotoniaDysmorphic featuresElectroencephalogram abnormalitiesEffects of treatmentClinical manifestationsTreated patientsEpileptic encephalopathyMonoallelic variantsTreatment optionsFrequent findingPhenotypic spectrumVariant p.Epilepsy phenotypeChapter 14 Molecular biology, genetic, and epigenetics of kidney tumor
Kazemi R, Rezaeian A, Deyhimfar R, Taheri D. Chapter 14 Molecular biology, genetic, and epigenetics of kidney tumor. 2025, 209-221. DOI: 10.1016/b978-0-443-27302-5.00003-6.Peer-Reviewed Original ResearchDNA damage repair genesKidney cancer developmentRenal cell carcinomaTumor suppressor genePlanning therapeutic strategiesRenal tumorsUrothelial carcinomaWilms tumorCell carcinomaRenal sarcomaKidney tumorsClinical manifestationsUrological cancersKidney cancerPredisposing genesSuppressor geneTherapeutic strategiesCancer developmentTumorRepair genesCancerCarcinomaKidneyGenetic basisGenetic changesChapter 52 Obsessive–compulsive disorder
Abdallah S, Olfson E, Fernandez T. Chapter 52 Obsessive–compulsive disorder. 2025, 937-950. DOI: 10.1016/b978-0-443-19176-3.00011-x.ChaptersObsessive-compulsive disorderObsessive-compulsive disorder etiologiesCognitive behavioral therapySerotonin reuptake inhibitorsReuptake inhibitorsBehavioral therapyMedication augmentationNeuroanatomical alterationsNeurochemical imbalanceMedication trialsGenetic influencesImprove treatment outcomesEvidence-based therapeutic strategiesTreatment outcomesRobust clinical trialsDisordersClinical manifestationsTreatment optionsClinical trialsTherapeutic strategiesSerotoninMultifactorial naturePharmacotherapyNeuromodulationTrials
2024
Coinfection and clinical impact of enterotoxigenic Escherichia coli harboring diverse toxin variants and colonization factors: 2017-2022
Amin M, Akhtar M, Khan Z, Islam T, Firoj G, Begum Y, Rahman S, Afrad M, Bhuiyan T, Chowdhury F, Faruque A, Ryan E, Qadri F, Khan A. Coinfection and clinical impact of enterotoxigenic Escherichia coli harboring diverse toxin variants and colonization factors: 2017-2022. International Journal Of Infectious Diseases 2024, 151: 107365. PMID: 39694230, PMCID: PMC11798591, DOI: 10.1016/j.ijid.2024.107365.Peer-Reviewed Original ResearchEnterotoxigenic Escherichia coliCo-infectionVibrio choleraeEnterotoxigenic Escherichia coli infectionDiarrheal Disease Surveillance SystemLikelihood of feverRisk of vomitingColonization factorsOverburden healthcare systemsShigella sppV. choleraeToxin variantsSalmonella sppEnteric pathogensClinical outcomesClinical manifestationsClinical impactIntravenous fluidsRisk factorsIllness severityVibrioPatientsRotavirusDisease surveillance systemsInfectionNovel PIBF1 Pathogenic Variant in Three Siblings with Joubert Syndrome Type 33
Aynekin B, Samur B, Gumus U, Bilguvar K, Gulec A, Efthymiou S, Gumus H, Caglayan A, Per H. Novel PIBF1 Pathogenic Variant in Three Siblings with Joubert Syndrome Type 33. Molecular Syndromology 2024, 1-10. DOI: 10.1159/000543107.Peer-Reviewed Original ResearchMolar tooth signRare autosomal recessive disorderOptic nerve atrophySevere renal diseaseAutosomal recessive disorderHomozygous nonsense mutationWhole-exome sequencingNerve atrophyRenal atrophyDisease-causing genesClinical spectrumClinical featuresDysmorphic featuresClinical manifestationsPhenotypic expansionDiagnostic awarenessHomozygous mutationJoubert syndromePathogenic variantsPatient's seizuresRecessive disorderRenal diseaseNonsense mutationDevelopmental delayKidney failureAge-dependent pathogenic profiles of enterotoxigenic Escherichia coli diarrhea in Bangladesh
Akhtar M, Begum Y, Isfat Ara Rahman S, Afrad M, Parvin N, Akter A, Tauheed I, Amin M, Ryan E, Khan A, Chowdhury F, Bhuiyan T, Qadri F. Age-dependent pathogenic profiles of enterotoxigenic Escherichia coli diarrhea in Bangladesh. Frontiers In Public Health 2024, 12: 1484162. PMID: 39726651, PMCID: PMC11669683, DOI: 10.3389/fpubh.2024.1484162.Peer-Reviewed Original ResearchEnterotoxigenic Escherichia coliETEC infectionColonization factorsEnterotoxigenic Escherichia coli strainsEnterotoxigenic Escherichia coli infectionEnterotoxigenic Escherichia coli diarrheaETEC casesClinical manifestationsETEC-associated diarrheaHost-pathogen interactionsAge groupsPrevalence of antimicrobial resistanceDevelopment of targeted vaccinesETEC antigensETEC diarrheaVirulence factorsYears age groupDiarrheal patientsHospital surveillance dataToxin typesAge-specific distributionChildren aged 0Pediatric casesAntimicrobial resistanceCFA/IValidation of Metallothionein Immunohistochemistry as a Highly Sensitive Screening Test for Wilson Disease
Stokes N, Patil A, Adeyi O, Bhalla A, Brown I, Byrnes K, Calderaro J, Chen D, Chen W, Cooper C, Dhall D, Frankel W, Gooch G, Gonzalez R, Hammer S, Hale G, Lagana S, McKenzie C, Allende D, Moreira R, Nakhleh R, Nalbantoglu I, Pai R, Salomao M, Schaeffer D, Shih A, Shin J, Simoes C, Vij M, Rela M, Xue Y, Yantiss R, Sabatto B, Graham R. Validation of Metallothionein Immunohistochemistry as a Highly Sensitive Screening Test for Wilson Disease. Modern Pathology 2024, 38: 100628. PMID: 39384020, DOI: 10.1016/j.modpat.2024.100628.Peer-Reviewed Original ResearchWilson's diseaseHistological featuresRare autosomal recessive conditionChronic cholestatic diseaseProtean clinical manifestationsEvaluation of patientsAutosomal recessive conditionSensitive screening testCase of WDCost-effective screening toolRoutine histologic sectionsMedian ageNeedle biopsyCholestatic diseasesWD patientsFibrosis stageClinical manifestationsHistopathological patternsATP7B mutationsHistological patternWD diagnosisTissue specimensAssessed patientsImmunohistochemistryMasson's trichromeSAT-283 Tumor-Induced Osteomalacia Disease Monitoring Program: A Longitudinal Cohort Study on An Ultra-Rare Disease
De Beur S, Dahir K, Imel E, Zanchetta M, Li J, Hetzer J, Ciğeroğlu O, Carpenter T. SAT-283 Tumor-Induced Osteomalacia Disease Monitoring Program: A Longitudinal Cohort Study on An Ultra-Rare Disease. Journal Of The Endocrine Society 2024, 8: bvae163.2316. PMCID: PMC12047137, DOI: 10.1210/jendso/bvae163.2316.Peer-Reviewed Original ResearchTumor-induced osteomalaciaGroup 1Group 2Group 3Burosumab treatmentTreatment of tumor-induced osteomalaciaData cutoff dateDiagnosis to enrollmentSafety of burosumabComplete surgical removalRenal phosphate wastingHuman monoclonal antibodyEfficacy of burosumabLong-term safetyAge of subjectsTime of enrollmentBone painMean doseLongitudinal cohort studyMesenchymal tumorsSurgical removalMusculoskeletal painClinical manifestationsConventional therapyPhosphate wastingAn unusual case of primary melioidotic prostatic disease: Misdiagnosed as benign prostatic hyperplasia
Cai Y, Jiang H, Li T, Luo D, Li P, Wang Y. An unusual case of primary melioidotic prostatic disease: Misdiagnosed as benign prostatic hyperplasia. Heliyon 2024, 10: e37906. PMID: 39323819, PMCID: PMC11422042, DOI: 10.1016/j.heliyon.2024.e37906.Peer-Reviewed Original ResearchBenign prostatic hyperplasiaProstate diseaseProstatic hyperplasiaBurkholderia pseudomallei</i>.Urine culturePulmonary infectionTrimethoprim-sulfamethoxazoleSurvival rate of patientsTreated with imipenemUrinary tract infectionAnti-infective treatmentRate of patientsHistory of hypertensionYear old maleMultiple organ damageProstatic abscessTract infectionsInflammatory markersClinical manifestationsCure rateUnusual caseFatal infectious diseaseOrgan damageDifficulty urinatingSurvival rateClinical and Histologic Variants of CD8+ Cutaneous T-Cell Lymphomas
Swallow M, Micevic G, Zhou A, Carlson K, Foss F, Girardi M. Clinical and Histologic Variants of CD8+ Cutaneous T-Cell Lymphomas. Cancers 2024, 16: 3087. PMID: 39272944, PMCID: PMC11394026, DOI: 10.3390/cancers16173087.Peer-Reviewed Original ResearchT-cell lymphomaPrimary cutaneous gamma/delta T-cell lymphomaSubcutaneous panniculitis-like T-cell lymphomaLymphoproliferative disordersMycosis fungoidesCD8+ cutaneous T-cell lymphomasCutaneous gamma/delta T-cell lymphomaPanniculitis-like T-cell lymphomaGamma/delta T-cell lymphomaCytotoxic T-cell lymphomaT-cell lymphoproliferative disorderAbnormal T-cell populationCutaneous T-cell lymphomaCytotoxic molecule expressionT cell populationsIndicator of prognosisAppropriate treatment planCD8-positiveAggressive entityLymphomatoid papulosisHistological variantsHistopathological differentiationTreatment algorithmCD8Clinical manifestations
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