2025
Multiple sclerosis diagnosis and its differential diagnosis in patients presenting with type four ‘mirror pattern’ CSF oligoclonal bands
Marastoni D, Sicchieri M, Pizzini F, Scartezzini A, Virla F, Turano E, Anni D, Bertolazzo M, Ziccardi S, Camera V, Tamanti A, Marini M, Lippi G, Bonetti B, Solomon A, Calabrese M. Multiple sclerosis diagnosis and its differential diagnosis in patients presenting with type four ‘mirror pattern’ CSF oligoclonal bands. Journal Of Neurology 2025, 272: 207. PMID: 39954124, PMCID: PMC11829897, DOI: 10.1007/s00415-025-12947-y.Peer-Reviewed Original ResearchConceptsCentral nervous systemCSF oligoclonal bandsOligoclonal bandsDiagnosis of MSAlternative diagnosesCerebrospinal fluidDemyelinating eventCentral nervous system demyelinating eventMultiple sclerosisInitial central nervous systemOligoclonal banding patternsRadiological follow-upDiagnostic work-upFrequent alternative diagnosesGroup of patientsMethodsSeventy-six patientsCentral nervous system disordersConclusionThe diagnosisMultiple sclerosis diagnosisClinical attacksMRI lesionsParaclinical examinationsDifferential diagnosisFollow-upWork-upMisoprostol administration mimicking a febrile transfusion reaction
Yurtsever N, Snyder E. Misoprostol administration mimicking a febrile transfusion reaction. Transfusion 2025, 65: 643-646. PMID: 39907501, DOI: 10.1111/trf.18150.Peer-Reviewed Original ResearchConceptsFebrile nonhemolytic transfusion reactionsTransfusion reactionsBlood culturesSynthetic prostaglandin E1 analogueThermogenic effectAdministration of misoprostolProstaglandin E1 analogueRed cell transfusionTransfusion medicineFebrile transfusion reactionsNonhemolytic transfusion reactionsG1P0 femaleMisoprostol administrationCell transfusionE1 analogueChart reviewSerological workupCase reportDifferential diagnosisEnhance patient satisfactionMisoprostolTransfusionUterotonic propertiesSerological findingsSide effectsAcid sphingomyelinase deficiency and Gaucher disease: Underdiagnosed and often treatable causes of hepatomegaly, splenomegaly, and low HDL cholesterol in lean individuals
Mistry P, Cassiman D, Jones S, Lachmann R, Lukina E, Prada C, Wasserstein M, Thurberg B, Foster M, Patel R, Underhill L, Peterschmitt M. Acid sphingomyelinase deficiency and Gaucher disease: Underdiagnosed and often treatable causes of hepatomegaly, splenomegaly, and low HDL cholesterol in lean individuals. Hepatology Communications 2025, 9: e0621. PMID: 39774103, PMCID: PMC11717527, DOI: 10.1097/hc9.0000000000000621.Peer-Reviewed Original ResearchConceptsGaucher disease type 1Acid sphingomyelinase deficiencyHDL cholesterolSphingomyelinase deficiencyDifferential diagnosis of patientsBiomarkers of disease activityLipoprotein phenotypeLower body mass indexMean HDL cholesterolLow HDL cholesterolLiver function testsDiagnosis of patientsBody mass indexModerate hepatosplenomegalySpleen volumeLipid abnormalitiesLow HDLDiagnostic delayIrreversible complicationsLiver volumeLyso-sphingomyelinMultisystemic manifestationsDisease activityLDL cholesterolDifferential diagnosisThe Art of Dermatology: Lessons Learned from Master Morphologist, Dr. Irwin Braverman
Eisenstein A, Johnston M, Laird M, Perkins S, Siegel J, Watsky K. The Art of Dermatology: Lessons Learned from Master Morphologist, Dr. Irwin Braverman. Clinics In Dermatology 2025 PMID: 39778634, DOI: 10.1016/j.clindermatol.2024.12.012.Peer-Reviewed Original Research
2024
Beyond cholangiocarcinoma: imaging features of mimicking pathologies in the biliary tract
Khasawneh H, O’Brien C, Czeyda-Pommersheim F, Qayyum A, Miller F, Arif Tiwari H, Paspulati R, Kierans A. Beyond cholangiocarcinoma: imaging features of mimicking pathologies in the biliary tract. Abdominal Radiology 2024, 1-16. PMID: 39710762, DOI: 10.1007/s00261-024-04749-z.Peer-Reviewed Original ResearchMalignant conditionsOverlap of imaging findingsDiagnosis of cholangiocarcinomaPrimary malignancyDifferentiate cholangiocarcinomaHistopathological confirmationImaging findingsMorphological subtypesDifferential diagnosisBiliary tractHeterogeneous diseaseDiagnostic accuracyPatient managementCholangiocarcinomaAccurate diagnosisHepatobiliary systemImage featuresPeriductal-infiltratingClinical practiceImaging characteristicsDiagnosisNeuroimaging Biomarkers in Parkinson’s Disease
Holmes S, Tinaz S. Neuroimaging Biomarkers in Parkinson’s Disease. Advances In Neurobiology 2024, 40: 617-663. PMID: 39562459, DOI: 10.1007/978-3-031-69491-2_21.Peer-Reviewed Original ResearchConceptsPublic health burdenNeuroimaging biomarkersTreatment developmentRisk of developing PDParkinson's diseaseHealth burdenDiagnosis of PDMultimodal neuroimaging techniquesIdiopathic Parkinson's diseaseNon-motorDifferential diagnosis of PDNeuroimaging techniquesProdromal phaseDifferential diagnosisSymptomatic treatmentDisease progressionClinical applicationBiomarkersMOGAD presenting as fulminant intracranial hypertension
Nagaratnam S, Gill A, Jeyakumar N, Xi S, Lin M, Martin A, Varikatt W, Fong M, Morales-Briceno H. MOGAD presenting as fulminant intracranial hypertension. Journal Of Neuroimmunology 2024, 397: 578487. PMID: 39547117, DOI: 10.1016/j.jneuroim.2024.578487.Peer-Reviewed Original ResearchMyelin oligodendrocyte glycoprotein antibody diseaseSevere intracranial hypertensionIntracranial hypertensionFulminant intracranial hypertensionAbsence of demyelinationBrain CT scanManagement of intracranial pressureImmunosuppressive therapyMOG antibodiesBiopsy resultsCortical encephalitisIntensive immunotherapyAntibody diseaseBrainstem encephalitisAntibody positivityClinical improvementSurgical managementNormal MRIBrain biopsyClinical featuresCT scanDifferential diagnosisHypertensionIntracranial pressureSubcortical demyelinationToxic and Metabolic Diseases of the CNS
Subramanian H, Mahajan A. Toxic and Metabolic Diseases of the CNS. What Radiology Residents Need To Know 2024, 231-244. DOI: 10.1007/978-3-031-55124-6_16.ChaptersCentral nervous systemMetabolic disordersBrain parenchymal involvementPredominant site of involvementSite of involvementNonspecific imaging appearancesDeep white matterParenchymal involvementDifferential diagnosisSpinal cordSevere casesImaging appearanceCerebral cortexCorpus callosumWhite matterMetabolic diseasesNervous systemPredominant siteToxic etiologyBasal gangliaSevere disordersDiagnosisDisordersImage patternsImage featuresBetween ‘NET’ and ‘CoGNET’: A biphasic Neuroendocrine-Gangliocytic tumor of the pancreas
Khandakar B, Ng M, Baum L, Robert M. Between ‘NET’ and ‘CoGNET’: A biphasic Neuroendocrine-Gangliocytic tumor of the pancreas. Human Pathology Reports 2024, 38: 300763. DOI: 10.1016/j.hpr.2024.300763.Peer-Reviewed Original ResearchNeuroendocrine tumorsLow-grade neuroendocrine tumorHead of pancreasNerve sheath tumorsClinico-pathological findingsPancreatic headSheath tumorsImmunohistochemical profilePeriampullary regionCase reportDifferential diagnosisGangliocytic paragangliomaTumorGangliocytic differentiationPancreasTumor classificationParagangliomaArtificial intelligence-based CT-free quantitative thyroid SPECT for thyrotoxicosis: study protocol of a multicentre, prospective, non-inferiority study
Oh D, Ryoo H, Chung H, Cho S, Kwon K, Kim J, So Y, Moon J, Ahn S, Lee W. Artificial intelligence-based CT-free quantitative thyroid SPECT for thyrotoxicosis: study protocol of a multicentre, prospective, non-inferiority study. BMJ Open 2024, 14: e089552. PMID: 39401965, PMCID: PMC11475049, DOI: 10.1136/bmjopen-2024-089552.Peer-Reviewed Original ResearchMeSH KeywordsAdultArtificial IntelligenceDiagnosis, DifferentialEquivalence Trials as TopicFemaleGraves DiseaseHumansMaleMulticenter Studies as TopicProspective StudiesRepublic of KoreaSingle Photon Emission Computed Tomography Computed TomographySingle-Blind MethodThyroid GlandThyroiditisThyrotoxicosisTomography, Emission-Computed, Single-PhotonConceptsGraves' diseaseDestructive thyroiditisDifferential diagnosisDifferential diagnosis of Graves' diseaseDifferential diagnosis of thyrotoxicosisDiagnosis of Graves' diseaseKonkuk University Medical CenterSingle-photon emission CT/CTSeoul National University Bundang HospitalTc-99m pertechnetateDiagnosis of thyrotoxicosisChonnam National University HospitalHistory of hyperthyroidismAttenuation correctionStudy protocolNational University HospitalNon-inferiority studyUniversity Medical CenterClinical Research Information ServiceInstitutional review boardPrimary endpointThyrotoxicosis patientsSecondary endpointsTechnetium thyroid uptakeThyroid uptakeDifferential diagnosis of suspected multiple sclerosis: global health considerations
Correale J, Solomon A, Cohen J, Banwell B, Gracia F, Gyang T, de Bedoya F, Harnegie M, Hemmer B, Jacob A, Kim H, Marrie R, Mateen F, Newsome S, Pandit L, Prayoonwiwat N, Sahraian M, Sato D, Saylor D, Shi F, Siva A, Tan K, Viswanathan S, Wattjes M, Weinshenker B, Yamout B, Fujihara K. Differential diagnosis of suspected multiple sclerosis: global health considerations. The Lancet Neurology 2024, 23: 1035-1049. PMID: 39304243, DOI: 10.1016/s1474-4422(24)00256-4.Peer-Reviewed Original ResearchConceptsWestern EuropeLatin AmericaEastern EuropeMiddle EastSoutheast AsiaNorth AmericaLatinEuropeHealth considerationsDifferential diagnosis of multiple sclerosisAfricaAmericaPacific regionAsiaDiagnosis of multiple sclerosisDifferential diagnosisCollaborative effortsComprehensive approachMultiple sclerosisEastMedical careDifferential diagnosis of suspected multiple sclerosis: considerations in people from minority ethnic and racial backgrounds in North America, northern Europe, and Australasia
Amezcua L, Rotstein D, Shirani A, Ciccarelli O, Ontaneda D, Magyari M, Rivera V, Kimbrough D, Dobson R, Taylor B, Williams M, Marrie R, Banwell B, Hemmer B, Newsome S, Cohen J, Solomon A, Royal W. Differential diagnosis of suspected multiple sclerosis: considerations in people from minority ethnic and racial backgrounds in North America, northern Europe, and Australasia. The Lancet Neurology 2024, 23: 1050-1062. PMID: 39304244, DOI: 10.1016/s1474-4422(24)00288-6.Peer-Reviewed Original ResearchConceptsSocial determinants of healthDeterminants of healthRacial backgroundSocial determinantsDiagnosis of multiple sclerosisClinical characteristics of peopleCharacteristics of peopleWhite peopleMultiple sclerosisDifferential diagnosisPrevalence of multiple sclerosisSocial challengesMinorityChanging demographicsDifferential diagnosis of multiple sclerosisWhite populationNorthern EuropePeopleEuropeDifferential 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 adultsYearsAdultsResidual Ultrasound-Enhancing Agents Mimicking Portal Venous Gas
Bitar R, Langdon J, Kaur M, Crandall I, McNamara R, Revzin M. Residual Ultrasound-Enhancing Agents Mimicking Portal Venous Gas. Ultrasound Quarterly 2024, 40: e00694. PMID: 39466239, DOI: 10.1097/ruq.0000000000000694.Peer-Reviewed Original ResearchConceptsUltrasound enhancing agentsPortal venous gasBowel ischemiaAbdominal ultrasoundVenous gasEchogenic fociContrast-enhanced echocardiographyEvaluation of cardiac functionPortal venous systemSeries of casesSonographic detectionCardiac functionDifferential diagnosisPortal veinVenous systemObservational studyLiver parenchymaPortal triadsVascular patencyBowelIschemiaEchocardiographyLiverUltrasoundConventional and Contrast-enhanced US of the Lung: From Performance to Diagnosis.
Jiménez-Serrano S, Páez-Carpio A, Doménech-Ximenos B, Cornellas L, Sánchez M, Revzin M, Vollmer I. Conventional and Contrast-enhanced US of the Lung: From Performance to Diagnosis. RadioGraphics 2024, 44: e230171. PMID: 38935548, DOI: 10.1148/rg.230171.Peer-Reviewed Original ResearchConceptsPeripheral lung diseaseContrast-enhanced USDiagnosis of peripheral lung diseasePercutaneous biopsyLung USEnhancement patternLung diseaseImage-guided percutaneous biopsyAccurate differential diagnosisDiagnostic chest imagingLung biopsySubpleural lesionsConventional USDifferential diagnosisPathological findingsPulmonary physiologyChest imagingArterial supplyBiopsyLungDiagnostic testsDiagnosisSoft tissueDiseaseImaging timeEvaluation of large language models as a diagnostic aid for complex medical cases
Ríos-Hoyo A, Shan N, Li A, Pearson A, Pusztai L, Howard F. Evaluation of large language models as a diagnostic aid for complex medical cases. Frontiers In Medicine 2024, 11: 1380148. PMID: 38966538, PMCID: PMC11222590, DOI: 10.3389/fmed.2024.1380148.Peer-Reviewed Original ResearchClinical casesLanguage modelHospital case recordsConsecutive clinical casesDifferential diagnosis listComplex clinical casesDifferential diagnosisDiagnostic considerationsCase discussionDiagnostic aidCase recordsDiagnosisComplex medical casesDiagnosis listDifferential listMedical specialtiesMedical professionalsDiseaseIncidenceNon-dominant, Lesional Parieto-occipital Lobe Epilepsy
Herlopian A. Non-dominant, Lesional Parieto-occipital Lobe Epilepsy. 2024, 221-240. DOI: 10.1007/978-3-031-23828-4_11.Peer-Reviewed Original ResearchFocal cortical dysplasiaCortical dysplasiaSupratentorial cystic lesionsPost-operative outcomesInterictal epileptiform activityPredictors of outcomeAnti-seizure medicationsMechanisms of epileptogenesisVisual evoked potentialsNeocortical epilepsy surgeryResection surgeryCystic lesionsSurgical interventionEpileptiform activityDifferential diagnosisEvoked potentialsPharmacoresistant epilepsyPatient populationNeuroimaging characteristicsEpilepsy surgeryDysplasiaPatientsOccipital lobeSensorimotor cortexSurgeryDominant, Tumor-Related Mesial Temporal Lobe Epilepsy
Herlopian A. Dominant, Tumor-Related Mesial Temporal Lobe Epilepsy. 2024, 747-755. DOI: 10.1007/978-3-031-23828-4_30.Peer-Reviewed Original ResearchSpiny Keratoderma: Clinical and Histopathological Findings in a Series of 3 Cases
Hanly A, Turner N, Ko C, Panse G. Spiny Keratoderma: Clinical and Histopathological Findings in a Series of 3 Cases. American Journal Of Dermatopathology 2024, 46: 439-442. PMID: 38574081, DOI: 10.1097/dad.0000000000002705.Peer-Reviewed Original ResearchClinical Decision Making in Inflammatory Bowel Disease Mimics: Practice Management from Inflammatory Bowel Disease LIVE
Fiske H, Ward C, Shah S, Holubar S, Al-Bawardy B, Barnes E, Binion D, Bohm M, Brand M, Clarke K, Cohen B, Cross R, Dueker J, Engels M, Farraye F, Fine S, Forster E, Gaidos J, Ginsburg P, Goyal A, Hanson J, Herfath H, Hull T, Kelly C, Lazarev M, Levy L, Melia J, Philpott J, Qazi T, Siegel C, Watson A, Wexner S, Williams E, Regueiro M. Clinical Decision Making in Inflammatory Bowel Disease Mimics: Practice Management from Inflammatory Bowel Disease LIVE. Crohn's & Colitis 360 2024, 6: otae022. PMID: 38720935, PMCID: PMC11078036, DOI: 10.1093/crocol/otae022.Peer-Reviewed Original ResearchInflammatory bowel diseaseReview of patient historyPresentation of inflammatory bowel diseaseInflammatory bowel disease patientsTreated with biologicsCost of patient careClinical management implicationsReassessment of treatmentIBD specialistsClinical responseMedication-inducedIBD patientsPrescribed steroidsPatient careEndoscopic biopsyTherapeutic workupMultidisciplinary managementIBD casesBalloon enteroscopyAdverse eventsDifferential diagnosisDisease mimicsDiverse presentationsPatient historyBowel disease
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