2025
Cerebrospinal fluid immune phenotyping reveals distinct immunotypes of myalgic encephalomyelitis/chronic fatigue syndrome.
Bastos V, Greene K, Tabachnikova A, Bhattacharjee B, Sjögren P, Bertilson B, Reifert J, Zhang M, Kamath K, Shon J, Gehlhausen J, Guan L, VanElzakker M, Proal A, Bragée B, Iwasaki A. Cerebrospinal fluid immune phenotyping reveals distinct immunotypes of myalgic encephalomyelitis/chronic fatigue syndrome. The Journal Of Immunology 2025 PMID: 40373264, DOI: 10.1093/jimmun/vkaf087.Peer-Reviewed Original ResearchMyalgic encephalomyelitis/chronic fatigue syndromeCerebrospinal fluidImmune phenotypeFatigue syndromeMatched healthy control subjectsAssessed plasma samplesMultiplex analysis of cytokinesHealthy control subjectsAnalysis of cerebrospinal fluidAnalysis of cytokinesTreatment developmentClinical presentationSymptom presentationMultiorgan diseaseInflammatory profileControl subjectsPathophysiological mechanismsMatrix metalloproteinase profilesDisease subgroupsME/CFS participantsClinical questionnaireMatrix metalloproteinasesMetalloproteinase profilesHigh-throughput microarrayPlasma samplesCardiac Magnetic Resonance Imaging in Immune Checkpoint Inhibitor–Related Myocarditis
Hammer M, Tysarowski M, Fuss C, Bader A. Cardiac Magnetic Resonance Imaging in Immune Checkpoint Inhibitor–Related Myocarditis. Echocardiography 2025, 42: e70131. PMID: 40067334, DOI: 10.1111/echo.70131.Peer-Reviewed Original ResearchConceptsImmune-related adverse eventsImmune checkpoint inhibitorsCardiac magnetic resonance imagingMagnetic resonance imagingAssociated with immune-related adverse eventsCardiac immune-related adverse eventsMechanisms of immune checkpoint inhibitorsICI-associated myocarditisICI-related myocarditisResonance imagingPersonalized cancer immunotherapySevere cardiovascular complicationsImmune tolerance pathwayCheckpoint inhibitorsCancer immunotherapyCardiac complicationsCombination therapyTumor cytotoxicityClinical presentationCardiovascular complicationsAdverse eventsTherapeutic efficacyOncological treatmentTherapeutic strategiesMyocarditisMultimodality imaging review of retroperitoneal fibrosis
Czerniak S, Mathur M. Multimodality imaging review of retroperitoneal fibrosis. Abdominal Radiology 2025, 1-19. PMID: 40035807, DOI: 10.1007/s00261-025-04847-6.Peer-Reviewed Original ResearchRetroperitoneal fibrosisSecondary causesEvaluation of retroperitoneal fibrosisAssociated with autoimmune diseasesNonspecific clinical presentationIgG4 related diseasePotential diagnostic pitfallsDiffusion weighted imagingMagnetic resonance imagingAdvanced imaging techniquesPET/CT imagingClinical presentationMultimodality imaging reviewVenous stenosisClinical featuresDiagnostic pitfallsFibroinflammatory diseaseImaging findingsAutoimmune diseasesImaging reviewInflammatory disordersIdiopathic diseaseTreatment approachesImaging appearanceImaging modalitiesThe Natural History of Congenital Hepatic Hemangiomas
Ostertag-Hill C, Fevurly R, Kulungowski A, Christison-Lagay E, McGuire A, Rialon K, Duggan E, Murillo R, Zurakowski D, Staffa S, Alomari A, Kozakewich H, Al-Ibraheemi A, Fishman S, Dickie B. The Natural History of Congenital Hepatic Hemangiomas. The Journal Of Pediatrics 2025, 281: 114523. PMID: 40023218, DOI: 10.1016/j.jpeds.2025.114523.Peer-Reviewed Original ResearchCongenital hepatic hemangiomasCongenital HHHepatic hemangiomaMedical therapyRetrospective review of patientsNatural historyReview of patientsKaplan-Meier curvesMonths of ageCongenital hemangiomaRetrospective reviewClinical presentationRespiratory failureClinical behaviorHeart failureHH volumeHistological findingsEarly recognitionResidual volumeGeneralized estimating equationsIncorrect diagnosisHemangiomaPatientsNo differenceRate of involutionEstablishing a Structured Hypospadias Biobank Cohort for Integrated Research: Methodology, Comprehensive Database Integration, and Phenotyping
Abbas T, Al-Shafai K, Jamil A, Mancha M, Azzah A, Arar S, Kumar S, Al Massih A, Mackeh R, Tomei S, Saraiva L. Establishing a Structured Hypospadias Biobank Cohort for Integrated Research: Methodology, Comprehensive Database Integration, and Phenotyping. Diagnostics 2025, 15: 561. PMID: 40075808, PMCID: PMC11898921, DOI: 10.3390/diagnostics15050561.Peer-Reviewed Original ResearchHypospadias severitySurgical outcomesEvidence-based surgical techniquesImprove long-term resultsPatient outcomesSeverity of hypospadiasTranslational researchGroup of patientsLong-term resultsFollow-up dataDiverse group of patientsLongitudinal follow-up dataPersonalized care strategiesPostoperative complicationsClinical presentationCongenital anomaliesImprove patient outcomesSurgical dataSurgical interventionBiobank cohortSurgical techniquePhenotypic spectrumClinical dataCongenital conditionHypospadiasAge‐associated differences in FIRES: Characterizing prodromal presentation and long‐term outcomes via the web‐based NORSE/FIRES Family Registry
Kazazian K, Gaspard N, Hirsch L, Kellogg M, Hocker S, Wong N, Farias‐Moeller R, Eschbach K, Gofton T. Age‐associated differences in FIRES: Characterizing prodromal presentation and long‐term outcomes via the web‐based NORSE/FIRES Family Registry. Epilepsia 2025, 66: e35-e40. PMID: 39804054, PMCID: PMC11908657, DOI: 10.1111/epi.18260.Peer-Reviewed Original ResearchConceptsFamily RegistryFebrile infection-related epilepsy syndromeAnti-seizure medicationsSelf-reported qualityQuality of lifePediatric patientsLong-term outcomesWeb-based registryProdromal symptomsAnxiety outcomesPoor cognitionAnti-seizure medication useClinical presentationSeizure burdenAdult survivorsProdromal presentationInternational web-based registryBad moodRegistryAge groupsRefractory status epilepticusAdultsCognitive outcomesOutcomesAge-associated differencesA comprehensive analysis of serotype-specific invasive capacity, clinical presentations, and mortality trends of invasive pneumococcal disease
Yildirim M, Keskinocak P, Hinderstein S, Tran K, Dasthagirisaheb Y, Madoff L, Pelton S, Yildirim I. A comprehensive analysis of serotype-specific invasive capacity, clinical presentations, and mortality trends of invasive pneumococcal disease. Vaccine 2025, 47: 126692. PMID: 39778476, DOI: 10.1016/j.vaccine.2024.126692.Peer-Reviewed Original ResearchConceptsInvasive pneumococcal diseasePneumococcal conjugate vaccineClinical presentationInvasive diseasePneumococcal diseaseAnnual incidence of invasive pneumococcal diseaseIncidence of invasive pneumococcal diseaseInvasive capacityInvasive pneumococcal disease serotypesPost-PCV13 eraReduced invasive diseasePneumococcal nasopharyngeal colonizationYears of ageNP carriageSerotype 35BPost-PCV13Respiratory seasonsCarriage prevalenceNasopharyngeal colonizationStreptococcus pneumoniaeConjugate vaccineSerotype 18CAnnual incidenceVaccination strategiesNP isolatesPhenotypic variability in phosphate transport disorders highlights need for individualized treatment strategies
Zhu Z, Bergwitz C. Phenotypic variability in phosphate transport disorders highlights need for individualized treatment strategies. Kidney International 2025, 107: 12-15. PMID: 39746740, DOI: 10.1016/j.kint.2024.10.020.Peer-Reviewed Original ResearchConceptsPhosphate-wasting disordersIndividualized treatment strategiesLong-term outcomesGenetic variantsPathogenic variantsPhenotypic variabilitySLC34A3 geneClinical presentationTreatment strategiesTreatment challengesTransport disordersTreatment outcomesAffected individualsTherapeutic strategiesPotential treatment challengesBiochemical profileVariantsDisordersGenesOutcomesPhenotypeNpt2cSLC34A3Npt2a
2024
Acute Decompensated Valvular Disease in the Intensive Care Unit
Miller P, Senman B, Gage A, Carnicelli A, Jacobs M, Rali A, Senussi M, Bhatt A, Hollenberg S, Kini A, Menon V, Grubb K, Morrow D, Section A. Acute Decompensated Valvular Disease in the Intensive Care Unit. JACC Advances 2024, 3: 101402. PMID: 39735779, PMCID: PMC11681797, DOI: 10.1016/j.jacadv.2024.101402.Peer-Reviewed Original ResearchIntensive care unitCardiac intensive care unitValvular diseaseCritically ill patientsCare unitIll patientsPrimary cardiac disorderMultidisciplinary heart teamModern cardiac intensive care unitPercutaneous interventional therapyDefinitive treatmentSurgical riskClinical presentationSocietal guidelinesHeart teamValvular disordersTreatment optionsInterventional therapyCardiac disordersDiseasePatientsTreatmentDisordersSurgeryTherapyA Systematic Review of Human Paenibacillus Infections and Comparison of Adult and Pediatric Cases.
Smith D, Bastug K, Burgoine K, Broach J, Hammershaimb E, Hehnly C, Morton S, Osman M, Schiff S, Ericson J. A Systematic Review of Human Paenibacillus Infections and Comparison of Adult and Pediatric Cases. The Pediatric Infectious Disease Journal 2024 PMID: 39705610, DOI: 10.1097/inf.0000000000004668.Peer-Reviewed Original ResearchClinical presentation of infectionSurgical management of hydrocephalusPresentation of infectionManagement of hydrocephalusEpidemiology of infectionCentral nervous systemNeonatal infectionBrain abscessSepsis syndromeClinical presentationPediatric casesSurgical managementRare involvementCystic encephalomalaciaAdult patientsInfant casesPatient populationClinical syndromeHydrocephalusCerebral destructionInfectionNervous systemInfantsSystematic reviewBrain destructionBIOS-03. CLINICAL PRESENTATION, MANAGEMENT, AND OUTCOME IN NEUROLYMPHOMATOSIS: A SYSTEMATIC REVIEW AND ANALYSIS OF INDIVIDUAL PATIENT DATA FROM 459 CASES
Kaulen L, Hielscher T, Doubrovinskaia S, Hoffmann D, Kessler T, Traub B, Baehring J, Wick W. BIOS-03. CLINICAL PRESENTATION, MANAGEMENT, AND OUTCOME IN NEUROLYMPHOMATOSIS: A SYSTEMATIC REVIEW AND ANALYSIS OF INDIVIDUAL PATIENT DATA FROM 459 CASES. Neuro-Oncology 2024, 26: viii38-viii38. PMCID: PMC11552887, DOI: 10.1093/neuonc/noae165.0151.Peer-Reviewed Original ResearchPeripheral nervous systemPrimary NLPrognostic factorsDiagnostic yieldFDG-PETRituximab-based therapyRituximab-based treatmentMedian overall survivalNon-Hodgkin's lymphomaManifestation of malignancyNervous systemTumor-directed therapyMultivariate survival analysisCox proportional hazards modelsTreatment of NLConcurrent systemic diseaseSystematic reviewProportional hazards modelConsensus therapyPainful polyneuropathyLymphomatous infiltrationOverall survivalPerformance statusPrognostic stratificationClinical presentationSkin Thickening and Vascular Lesions
Andrejeva L, Lanjewar S, Woolf G, Killelea B, Brownson K, Podany P, Harigopal M. Skin Thickening and Vascular Lesions. 2024, 297-323. DOI: 10.1007/978-3-031-65711-5_11.Peer-Reviewed Original ResearchRare group of neoplasmsInflammatory breast carcinomaInvasive lobular carcinomaMalignant vascular tumorsGroup of neoplasmsIll-defined marginsLobular carcinomaBreast carcinomaBenign tumorsClinical presentationBenign lesionsVascular tumorsBreast parenchymaClinical historyWell-circumscribedSkin thickeningMalignant processVascular lesionsRare groupImaging appearanceSubcutaneous tissueContrast enhancementBreastCarcinomaTumorSmall fiber neuropathy
Kool D, Hoeijmakers J, Waxman S, Faber C. Small fiber neuropathy. International Review Of Neurobiology 2024, 179: 181-231. PMID: 39580213, DOI: 10.1016/bs.irn.2024.10.001.Peer-Reviewed Original ResearchSmall fiber neuropathySodium channelopathiesAssociated with small fiber neuropathyTherapeutic strategiesNerve fibersNeuropathic pain disordersQuantitative sensory testingUnmyelinated C-fibersNervous systemSmall nerve fibersDiagnostic methodsPeripheral nervous systemAutonomic nervous systemNeuropathic painFiber neuropathyPain disordersClinical presentationC-fibersImmune-mediatedAutonomic dysfunctionClinical featuresSkin biopsiesDiagnosed patientsClinical trialsHereditary conditionRare presentations of glioblastoma multiforme in the septum pellucidum: illustrative case
Subah G, Zeller S, Jain A, Gozum N, Smith G, Cooper J, Kleinman G, Gandhi C, Hanft S. Rare presentations of glioblastoma multiforme in the septum pellucidum: illustrative case. Journal Of Neurosurgery Case Lessons 2024, 8: case23770. PMID: 39432918, PMCID: PMC11505928, DOI: 10.3171/case23770.Peer-Reviewed Original ResearchGlioblastoma multiformeSeptum pellucidumInitial head computed tomographyHistory of prostate carcinomaKi-67 labeling indexHigh-grade primary brain tumorsTumor grade 4Head computed tomographyDiverse clinical presentationsPrimary brain tumorGlial fibrillary acidic proteinFibrillary acidic proteinMagnetic resonance imagingProstate carcinomaBiopsy findingsRare presentationIntracranial malignanciesClinical presentationKi-67Mass lesionDiagnostic advancesLabeling indexLateral ventricleNeuro-oncologyInfiltrative growthP27.10.B FACTORS INFLUENCING TIMELY DIAGNOSIS IN NEUROLYMPHOMATOSIS
Doubrovinskaia S, Egert A, Karschnia P, Scheffler G, Huttner A, Fulbright R, Baehring J, Kaulen L. P27.10.B FACTORS INFLUENCING TIMELY DIAGNOSIS IN NEUROLYMPHOMATOSIS. Neuro-Oncology 2024, 26: v138-v139. PMCID: PMC11485484, DOI: 10.1093/neuonc/noae144.472.Peer-Reviewed Original ResearchNon-Hodgkin's lymphomaPeripheral nervous systemNerve root lesionsDiagnostic intervalRelapse of NHLSymptom onsetAssociated with early diagnosisTertiary referral centerAtypical clinical presentationRoot lesionsCerebrospinal fluid examinationDiagnostic work-upYale Cancer CenterPainful polyneuropathyAsymmetric neuropathyClinical presentationReferral centerFluid examinationQuality control databaseDiagnostic delayFDG-PETPrimary diseaseUnivariate analysisConventional CTNeurolymphomatosisRocky Mountain Spotted Fever Encephalitis and “Starry Sky” Pattern on MRI
Mikhaiel J, Parasram M, Park J, Cappucci S, McGuone D, Falcone G, Sheth K, Gilmore E. Rocky Mountain Spotted Fever Encephalitis and “Starry Sky” Pattern on MRI. The Neurologist 2024, 30: 34-38. PMID: 39382206, DOI: 10.1097/nrl.0000000000000586.Peer-Reviewed Original ResearchMagnetic resonance imagingPetechial rashCase reportDiffusion restrictionMagnetic resonance imaging brainMagnetic resonance imaging brain findingsRepeat MRI brainRocky Mountain spotted feverUrinary tract infectionFoci of diffusion restrictionRight centrum semiovaleProgression to comaPerivascular lymphocytic infiltrateDiffuse petechial rashTract infectionsClinical presentationViral cultureClinical improvementMRI brainLymphocytic infiltrationLumbar punctureSkin biopsiesElevated proteinNeurological manifestationsPunctate fociDifferential Diagnosis of Suspected Multiple Sclerosis in Pediatric and Late-Onset Populations
Hua L, Solomon A, Tenembaum S, Scalfari A, Rovira À, Rostasy K, Newsome S, Marrie R, Magyari M, Kantarci O, Hemmer B, Hemingway C, Harnegie M, Graves J, Cohen J, Bove R, Banwell B, Corboy J, Waubant E. Differential Diagnosis of Suspected Multiple Sclerosis in Pediatric and Late-Onset Populations. JAMA Neurology 2024, 81: 1210-1222. PMID: 39283621, DOI: 10.1001/jamaneurol.2024.3062.Peer-Reviewed Original ResearchDifferential diagnosisMultiple sclerosisAdult-onset MSClinical presentation of MSPresentation of MSNon-MS diagnosisClinical presentationAdult MSSuspected MSNeuronal injuryLate-onsetConsensus guidanceDiagnostic approachApproximately 5%Age groupsDiagnosisRed flagsMS expertsAgeEarly adulthoodBiological differencesSclerosisOlder adultsYearsAdultsCardiac manifestations and outcomes of COVID-19 vaccine-associated myocarditis in the young in the USA: longitudinal results from the Myocarditis After COVID Vaccination (MACiV) multicenter study
Jain S, Anderson S, Steele J, Wilson H, Muniz J, Soslow J, Beroukhim R, Maksymiuk V, Jacquemyn X, Frosch O, Fonseca B, Harahsheh A, Buddhe S, Ashwath R, Thacker D, Maskatia S, Misra N, Su J, Siddiqui S, Vaiyani D, Vaikom-House A, Campbell M, Klein J, Huang S, Mathis C, Cornicelli M, Sharma M, Nagaraju L, Ang J, Uppu S, Ramachandran P, Patel J, Han F, Mandell J, Akam-Venkata J, DiLorenzo M, Brumund M, Bhatla P, Eshtehardi P, Mehta K, Glover K, Dove M, Aldawsari K, Kumar A, Barfuss S, Dorfman A, Minocha P, Yonts A, Schauer J, Cheng A, Robinson J, Powell Z, Srivastava S, Chelliah A, Sanil Y, Hernandez L, Gaur L, Antonchak M, Johnston M, Reich J, Nair N, Drugge E, Grosse-Wortmann L. Cardiac manifestations and outcomes of COVID-19 vaccine-associated myocarditis in the young in the USA: longitudinal results from the Myocarditis After COVID Vaccination (MACiV) multicenter study. EClinicalMedicine 2024, 76: 102809. PMID: 39290640, PMCID: PMC11406334, DOI: 10.1016/j.eclinm.2024.102809.Peer-Reviewed Original ResearchCOVID-19 vaccine-associated myocarditisLate gadolinium enhancementMid-term clinical outcomesVaccine-associated myocarditisCardiac magnetic resonanceMyocardial injuryMulticenter studyClinical diagnosis of acute myocarditisThird dose of mRNA vaccineDiagnosis of acute myocarditisDose of mRNA vaccinePresence of myocardial injuryNo cardiac deathsMedian follow-upCohort multicenter studyMultisystem inflammatory syndromeFollow-up informationCardiac manifestationsAcute myocarditisClinical courseInflammatory syndromeClinical presentationGadolinium enhancementCardiac dysfunctionThird doseThyroid dysfunction caused by immune checkpoint inhibitors improves cancer outcomes.
García-Goñi M, Vázquez Gutiérrez B, Sanmamed M, Martín-Algarra S, Luis Pérez-Gracia J, Olmedo M, Chumbiauca E, Martín-Calvo N, Galofré J. Thyroid dysfunction caused by immune checkpoint inhibitors improves cancer outcomes. Endocrine Related Cancer 2024, 31 PMID: 39013402, DOI: 10.1530/erc-24-0064.Peer-Reviewed Original ResearchConceptsImmune checkpoint inhibitorsImmune-related adverse eventsRisk of progressionOverall survivalPrimary tumorThyroid dysfunctionPatients treated with immune checkpoint inhibitorsCancer patients treated with immune checkpoint inhibitorsAssociated with higher ORRImmune checkpoint inhibitor regimenTreated with atezolizumabLonger overall survivalCox proportional hazards modelsResponse to treatmentProbability of recurrenceMultivariable-adjusted regressionRisk of mortalityProportional hazards modelIndependent of ageCheckpoint inhibitorsRECIST v1.1Higher ORRCombination therapyUrothelial cancerClinical presentationLamotrigine Emerging as a Driver of Stevens-Johnson Syndrome and Toxic Epidermal Necrolysis: An 8-Year Retrospective Study
Glahn J, Almeida M, Kochen A, Noel O, Stogner V, Hsia H, Savetamal A. Lamotrigine Emerging as a Driver of Stevens-Johnson Syndrome and Toxic Epidermal Necrolysis: An 8-Year Retrospective Study. Burns 2024, 50: 2114-2123. PMID: 39127578, DOI: 10.1016/j.burns.2024.07.006.Peer-Reviewed Original ResearchStevens-Johnson syndromeToxic epidermal necrolysisOff-label useEpidermal necrolysisCause of SJS/TENDiagnosis of SJS/TENBurn centerNon-bipolar mood disordersImpact clinical courseLength of stayBiopsy confirmationDesquamating rashRegional burn centerCausative drugsClinical coursePresenting symptomsClinical presentationSJS/TEN patientsPrescribed lamotriginePatient demographicsHospital courseRetrospective cohortStevens-JohnsonSevere manifestationsPatient population
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