2025
Association 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 dataImmunityVariantsAssociationPatientsSacral tumors: a comprehensive review of imaging, diagnostic challenges, and tumor mimics
Adin M, Woolf G, Hegde R, Elsamadicy A, Mendel E, Zucconi W, Pucar D, Aygün N. Sacral tumors: a comprehensive review of imaging, diagnostic challenges, and tumor mimics. Skeletal Radiology 2025, 1-26. PMID: 39821683, DOI: 10.1007/s00256-024-04862-6.Peer-Reviewed Original ResearchPrimary tumorTumor mimicsImaging findingsAssessment of response to treatmentGerm cell tumorsEvaluation of systemic diseasesResponse to treatmentInsufficiency fracturesSacral massSecondary tumorsCell tumorsPretreatment evaluationDiagnostic challengeLymphoproliferative diseaseClinical detailsMalignant tumorsPrimary modalitySystemic diseaseEwing sarcomaTumorNotochordal remnantsDevelopmental entityEpidemiological factorsDiagnosisMetastasis
2024
Expanding the spectrum of progressive familial intrahepatic cholestasis: A report of 3 cases
Jiao J, Morotti R, Shafizadeh N, Jain D. Expanding the spectrum of progressive familial intrahepatic cholestasis: A report of 3 cases. American Journal Of Clinical Pathology 2024, 163: 332-339. PMID: 39333837, DOI: 10.1093/ajcp/aqae123.Peer-Reviewed Original ResearchProgressive familial intrahepatic cholestasisATP-binding cassette subfamily B member 4Whole-exome sequencingFamilial intrahepatic cholestasisIntrahepatic cholestasisDiagnostic challengeGroup of autosomal recessive disordersAbnormal liver function testsHomozygous splice site variantDrug-induced liver injuryHeterozygous frameshift mutationHeterozygous missense mutationLiver function testsAged 2 monthsAutosomal recessive disorderSplice site variantHistory of alcoholismABCB4 mutationsPediatric ageLiver biopsyClinical historyRecessive disorderLiver injuryMolecular testingHeterogeneous presentationMisdiagnosis and underdiagnosis of multiple sclerosis: A systematic review and meta-analysis
Zürrer W, Cannon A, Ilchenko D, Gaitán M, Granberg T, Piehl F, Solomon A, Ineichen B. Misdiagnosis and underdiagnosis of multiple sclerosis: A systematic review and meta-analysis. Multiple Sclerosis Journal 2024, 30: 1409-1422. PMID: 39246018, DOI: 10.1177/13524585241274527.Peer-Reviewed Original ResearchMeta-analysisSystematic reviewPooled proportionDiagnostic errorsPotential impact of sexMultiple sclerosisMS careMS misdiagnosisHealthcare systemQualitative synthesisImpact patientsMeta-analysesMS diagnosisHighest prevalenceImpact of sexDiagnostic delayUnderdiagnosisFrequency of misdiagnosisDiagnostic challengeMisdiagnosisCareHealthcarePatientsDiagnosisPotential impactALL-408 Unveiling the Shadows: Thiamine Deficiency Manifesting As Sudden-Onset Blindness in a Patient With Leukemia
Ramachandran S, Stempel J, Podoltsev N, Mahajan A. ALL-408 Unveiling the Shadows: Thiamine Deficiency Manifesting As Sudden-Onset Blindness in a Patient With Leukemia. Clinical Lymphoma Myeloma & Leukemia 2024, 24: s268. DOI: 10.1016/s2152-2650(24)01106-6.Peer-Reviewed Original ResearchWernicke's encephalopathyThiamine deficiencyB-ALLHematologic malignanciesDiagnostic challengePhiladelphia chromosome-positive B-cell acute lymphoblastic leukemiaB-cell acute lymphoblastic leukemiaTreated with hyper-CVADHigh index of suspicionPrevent permanent neurological damageDasatinib dose reductionSudden onset blindnessIndex of suspicionAcute lymphoblastic leukemiaLoss of vibratory sensationPh+ B-ALLCerebrospinal fluid analysisSevere neurological dysfunctionCancer-directed therapyPermanent neurological damageVitamin B1 levelsAtypical neurological findingsHyper-CVADOphthalmologic examBilateral blindnessPulmonary embolism with thrombus in transit across a patent foramen ovale
Iyengar S, Stolear A, Dulgher M, Ahmed A, Shkolnik E, Zarich S. Pulmonary embolism with thrombus in transit across a patent foramen ovale. Oxford Medical Case Reports 2024, 2024: omae091. PMID: 39184868, PMCID: PMC11343825, DOI: 10.1093/omcr/omae091.Peer-Reviewed Original ResearchPatent foramen ovalePatent foramen ovale closureImpending paradoxical embolismPulmonary embolismForamen ovaleCritical left anterior descending coronary artery stenosisObstructive sleep apneaCoronary artery bypass graftingOptimal treatment strategySaddle pulmonary embolusAbsence of standard guidelinesDeep vein thrombosisArtery bypass graftingLife-threatening conditionCoronary artery stenosisSleep apneaTransesophageal echocardiogramPulmonary emboliSurgical thrombectomyVein thrombosisDiagnostic challengeSurgical interventionRight atriumThrombolytic therapyBypass graftingPresenting clinical and imaging features of patients with clinically amyopathic interstitial lung disease associated with myositis-specific autoantibodies
Tzilas V, Tzouvelekis A, Sotiropoulou V, Panopoulos S, Bouros E, Avdoula E, Ryu J, Bouros D. Presenting clinical and imaging features of patients with clinically amyopathic interstitial lung disease associated with myositis-specific autoantibodies. Frontiers In Medicine 2024, 11: 1392659. PMID: 38711778, PMCID: PMC11070581, DOI: 10.3389/fmed.2024.1392659.Peer-Reviewed Original ResearchMyositis-specific autoantibodiesPresence of myositis-specific autoantibodiesImaging features of patientsChest imaging studiesIdiopathic inflammatory myopathiesFeatures of patientsInterstitial lung diseaseIncreased CK levelsSignificant diagnostic challengeMedian DLCOMedian FVCHRCT patternGottron's papulesUIP patternMedian agePresenting symptomsLung involvementInflammatory myopathiesRadiological featuresDiagnostic challengeMuscle involvementInspiratory cracklesRaynaud's phenomenonComputer-assisted searchLung diseaseCRE24-052: Hyperfibrinolysis as the Primary Presenting Sign of Metastatic Prostate Cancer: A Diagnostic Challenge
Lobo A, Zengin Z, Kenworthy C, Sharda A. CRE24-052: Hyperfibrinolysis as the Primary Presenting Sign of Metastatic Prostate Cancer: A Diagnostic Challenge. Journal Of The National Comprehensive Cancer Network 2024, 22 DOI: 10.6004/jnccn.2023.7326.Peer-Reviewed Original ResearchComplement protein signatures in patients with alcohol-associated hepatitis
Taiwo M, Huang E, Pathak V, Bellar A, Welch N, Dasarathy J, Streem D, McClain C, Mitchell M, Barton B, Szabo G, Dasarathy S, Consortium A, Schaefer E, Luther J, Day L, Ouyang X, Suyavaran A, Mehal W, Jacobs J, Goodman R, Rotroff D, Nagy L. Complement protein signatures in patients with alcohol-associated hepatitis. JCI Insight 2024, 9: e174127. PMID: 38573776, PMCID: PMC11141929, DOI: 10.1172/jci.insight.174127.Peer-Reviewed Original ResearchAlcohol-associated hepatitisSevere AHAlcohol use disorderAlcoholic cirrhosisHealthy controlsPredicting 90-day mortalityComplement proteinsSerum proteome of patientsEthanol-induced liver injurySerum proteomeDevelopment of effective therapiesProteome of patientsAssociated with pro-inflammatory cytokinesProtein signaturesPro-inflammatory cytokinesCoagulation factors IINon-invasive biomarkersDiagnostic challengeSerine protease 1Murine modelEffective therapyLiver injuryPrognostic biomarkerHepatic inflammationC1q binding proteinPrevalence of Sleep CALM nocturia factors in a male veteran population
Monaghan T, Fang A, Ksido L, Hachicho C, Muneeb M, Rahman S, Kheir G, Lazar J, Everaert K, Wein A, Weiss J. Prevalence of Sleep CALM nocturia factors in a male veteran population. Neurourology And Urodynamics 2024, 43: 1127-1133. PMID: 38511613, DOI: 10.1002/nau.25410.Peer-Reviewed Original ResearchAssociated with advanced ageFrequency-volume chartUrinary tract dysfunctionSignificant diagnostic challengeMedical history dataMale veteran populationGenitourinary abnormalitiesNocturnal voidsUrinary tractDiagnostic challengeConsensus guidelinesHost of conditionsNocturiaRetrospective analysisUrology settingAdvanced agePatient populationMultifactorial conditionReal-world practiceSleep disordersNocturia patientsDifferential effects of ageEffects of ageMedication useSleepClinical Applications of Dual‐Energy Computed Tomography for Acute Ischemic Stroke
Chen H, Bodanapally U, Colasurdo M, Malhotra A, Gandhi D. Clinical Applications of Dual‐Energy Computed Tomography for Acute Ischemic Stroke. Stroke Vascular And Interventional Neurology 2024, 4 DOI: 10.1161/svin.123.001193.Peer-Reviewed Educational MaterialsDual-energy computed tomographyAcute ischemic strokePostinterventional managementIschemic strokeDual-energyClinical applicationPredicting hemorrhagic transformationContext of acute ischemic strokeDiagnostic challengePatient selectionEarly cerebral ischemiaHemorrhagic transformationRecanalization therapyComputed tomographyClinical evidenceDiagnostic accuracyTreatment strategiesAcute stroke triageVascular lesionsNeurological disabilityCerebral ischemiaDiagnostic imagingTomographyStroke triageNarrative reviewMultiple 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 effortsSymptomsAbstract B026: Detection and characterization of DDR reversion alterations in baseline tissue and plasma samples from patients enrolled in the TRESR and ATTACC Phase I clinical trials
Silverman I, Schonhoft J, Jain E, Ulanet D, Yang J, Kim I, Fei K, Lagow E, Yablonovitch A, Cecchini M, Rosen E, Lee E, Lheureux S, Yap T, Fontana E, Koehler M, Rimkunas V. Abstract B026: Detection and characterization of DDR reversion alterations in baseline tissue and plasma samples from patients enrolled in the TRESR and ATTACC Phase I clinical trials. Cancer Research 2024, 84: b026-b026. DOI: 10.1158/1538-7445.dnarepair24-b026.Peer-Reviewed Original ResearchPoly(ADP-ribose) polymerase inhibitorsPhase I clinical trialDNA damage repairReversible alterationsECOG PS 0-1Baseline tissuePlatinum-based therapyPlasma samplesInterpretation of efficacy dataHRD-related genesDamage repairDDR alterationsTumor biopsiesOvarian cancerSingle nucleotide variantsWhole-genome sequencingDiagnostic challengeSolid tumorsClinical developmentEvaluate safetyEfficacy dataPolymerase inhibitorsTumorAtaxia telangiectasiaPatientsSuccessful outcome in a case of idiopathic multicentric Castleman disease with atypical lymphadenopathy and kidney injury: Diagnostic challenges and treatment approach—Case report
Yalikun D, Zhuang J, Lei W, Wang C, Aierken A, Qu Y, Wang J, Tian X, Jiang H. Successful outcome in a case of idiopathic multicentric Castleman disease with atypical lymphadenopathy and kidney injury: Diagnostic challenges and treatment approach—Case report. SAGE Open Medical Case Reports 2024, 12: 2050313x241240097. PMID: 38559411, PMCID: PMC10981217, DOI: 10.1177/2050313x241240097.Peer-Reviewed Case Reports and Technical NotesIdiopathic multicentric Castleman diseaseCastleman's diseaseMulticentric Castleman's diseaseSignificant lymphadenopathySystemic inflammationKidney injuryCases of idiopathic multicentric Castleman's diseaseMonths of follow-upLymph node biopsyUrinary tract infectionAnti-infective treatmentPatient's clinical symptomsAcute kidney injuryNo significant lymphadenopathyLoss of appetiteNode biopsySymptomatic recurrencePersistent feverTract infectionsMultiorgan involvementRenal functionDiagnostic challengeInflammatory markersCase reportFavorable outcome
2023
Peritoneal Washings and Ovary
Sun T, Gilani S. Peritoneal Washings and Ovary. 2023, 51-56. DOI: 10.1007/978-3-031-44289-6_4.Peer-Reviewed Original ResearchFirst-episode psychosis and autism spectrum disorder: a scoping review and a guide to overcome diagnostic challenges
Ferrara M, Curtarello E, Simonelli G, Yoviene Sykes L, Fusar-Poli L, Folesani F, Belvederi Murri M, Aguglia E, Politi P, Grassi L. First-episode psychosis and autism spectrum disorder: a scoping review and a guide to overcome diagnostic challenges. International Journal Of Mental Health 2023, 53: 4-35. DOI: 10.1080/00207411.2023.2276872.Peer-Reviewed Original ResearchFirst-episode psychosisDifferential diagnosisFEP servicesDiagnostic challengeAutism spectrum disorderAdequate differential diagnosisUndiagnosed autism spectrum disorderComprehensive literature searchPRISMA-ScR guidelinesAdult patientsClinical presentationFunctional recoveryHigh prevalenceSpectrum disorderHigh riskPsychotic symptomsComorbid diagnosesSymptoms of autismSuicidal behaviorLiterature searchDiagnosisSymptomsSensory processingPerceptual abnormalitiesSeparate groupsPulmonary Complications of Lung Cancer Treatment
McAvoy K, Possick J. Pulmonary Complications of Lung Cancer Treatment. Respiratory Medicine 2023, 229-254. DOI: 10.1007/978-3-031-38412-7_11.ChaptersPulmonary complicationsTreatment-related risk factorsNonspecific respiratory symptomsLife-saving therapyLung cancer treatmentLung cancer therapyUnderstanding of patientsRespiratory symptomsRadiographic findingsAttendant complicationsDiagnostic challengeRisk factorsTreatment paradigmRadiation therapyTraditional chemotherapyComplicationsAccurate diagnosisAreas of uncertaintyCancer treatmentTherapyCancer therapyDisease responsePatientsImmunotherapyChemotherapyIRF8 in Conjunction With CD123 and CD20 to Distinguish Lupus Erythematosus Panniculitis From Subcutaneous Panniculitis-like T-Cell Lymphoma
Wong J, Roy S, McNiff J, Xu M. IRF8 in Conjunction With CD123 and CD20 to Distinguish Lupus Erythematosus Panniculitis From Subcutaneous Panniculitis-like T-Cell Lymphoma. The American Journal Of Surgical Pathology 2023, 47: 1425-1431. PMID: 37767989, DOI: 10.1097/pas.0000000000002133.Peer-Reviewed Original ResearchConceptsSubcutaneous panniculitis-like T-cell lymphomaLupus erythematosus panniculitisPanniculitis-like T-cell lymphomaCase of SPTCLT-cell lymphomaPlasmacytoid dendritic cell differentiationPlasmacytoid dendritic cellsExpression of IRF8Dendritic cell differentiationCharacteristic curve analysisImportant clinical implicationsRegulatory factor 8Dendritic cellsCutaneous biopsyLymphoid aggregatesDiagnostic challengeImmunohistochemical panelImmunohistochemical expressionCD123CD20Distinct patientsClinical implicationsSubcutaneous fatDiagnostic testsPositive markersExtrauterine epithelioid trophoblastic tumour and its somatic carcinoma mimics: short tandem repeat genotyping meets the diagnostic challenges
Niu N, Ordulu Z, Burak Z, Buza N, Hui P. Extrauterine epithelioid trophoblastic tumour and its somatic carcinoma mimics: short tandem repeat genotyping meets the diagnostic challenges. Histopathology 2023, 84: 325-335. PMID: 37743102, DOI: 10.1111/his.15054.Peer-Reviewed Original ResearchConceptsEpithelioid trophoblastic tumorGestational trophoblastic tumorsTrophoblastic tumorExtrauterine sitesSomatic carcinomasDifferential diagnosisDiagnosis of ETTExtrauterine epithelioid trophoblastic tumorsTriple-negative breast carcinomaTrophoblastic differentiationMetastatic triple-negative breast carcinomaPrimary lung carcinomaMain differential diagnosisMajor differential diagnosisEctopic gestationImmunohistochemical featuresDiagnostic challengeMetastatic tumorsLung carcinomaBreast carcinomaPatient managementEpithelioid malignanciesImmunohistochemical levelCarcinomaTumor tissueUtility of parathyroid hormone immunocytochemistry in fine needle aspiration diagnosis of parathyroid tissue
Sardana R, Abi‐Raad R, Adeniran A, Cai G. Utility of parathyroid hormone immunocytochemistry in fine needle aspiration diagnosis of parathyroid tissue. Cytopathology 2023, 34: 597-602. PMID: 37534757, DOI: 10.1111/cyt.13283.Peer-Reviewed Original ResearchConceptsParathyroid tissueFine-needle aspirationPTH casesClinicopathological characteristicsCytomorphological featuresThyroid lesionsThinPrep slidesFine needle aspiration diagnosisNeck soft tissuePatients' clinicopathological characteristicsNeedle aspiration diagnosisNegative predictive valueClinical suspicionStudy cohortPathology databaseRetrospective studyDiagnostic challengeDifferential diagnosisInstitutional experienceNeedle aspirationCytological diagnosisFNA casesAspiration diagnosisPredictive valueAdjunct test
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