2023
IRF8 may be a useful marker for blastic plasmacytoid dendritic cell neoplasm, especially with weak CD123 expression
Tang H, Panse G, Braddock D, Perincheri S, Xu M, McNiff J. IRF8 may be a useful marker for blastic plasmacytoid dendritic cell neoplasm, especially with weak CD123 expression. Journal Of Cutaneous Pathology 2023, 50: 595-600. PMID: 37082914, DOI: 10.1111/cup.14439.Peer-Reviewed Original ResearchConceptsBlastic plasmacytoid dendritic cell neoplasmPlasmacytoid dendritic cell neoplasmDendritic cell neoplasmPunch biopsy specimenBiopsy specimenCell neoplasmsCase of BPDCNUseful markerTumor cellsTCL-1 expressionAtypical mononuclear cellsBone marrow involvementDiffuse dermal infiltrateDendritic cell lineagePotential diagnostic pitfallRegulatory factor 8TCL-1BPDCN casesCD123 expressionMarrow involvementDermal infiltrateCutaneous nodulesMyelodysplastic syndromeSkin nodulesMononuclear cells
2019
Clinical and Biochemical Phenotypes in a Family With ENPP1 Mutations
Kotwal A, Ferrer A, Kumar R, Singh RJ, Murthy V, Schultz-Rogers L, Zimmermann M, Lanpher B, Zimmerman K, Stabach PR, Klee E, Braddock DT, Wermers RA. Clinical and Biochemical Phenotypes in a Family With ENPP1 Mutations. Journal Of Bone And Mineral Research 2019, 35: 662-670. PMID: 31826312, PMCID: PMC7771569, DOI: 10.1002/jbmr.3938.Peer-Reviewed Original ResearchConceptsAutosomal recessive hypophosphatemic rickets type 2Biallelic mutationsMonoallelic mutationsPrimary hyperparathyroidismPathogenic variantsCarotid intima-media thicknessClassic disease manifestationsNormocalcemic primary hyperparathyroidismC-terminal FGF23Intima-media thicknessWhole-exome sequencingClinical findingsArterial calcificationPeriarticular calcificationSpectrum of phenotypesIntact FGF23Disease manifestationsBilateral femursENPP1 variantsBone deformitiesBiochemical manifestationsType 2ENPP1 geneExome sequencingHyperparathyroidism
2013
Desmoplastic melanoma: A 12-year experience with sentinel lymph node biopsy
Broer PN, Walker ME, Goldberg C, Buonocore S, Braddock DT, Lazova R, Narayan D, Ariyan S. Desmoplastic melanoma: A 12-year experience with sentinel lymph node biopsy. European Journal Of Surgical Oncology 2013, 39: 681-685. PMID: 23522951, DOI: 10.1016/j.ejso.2013.02.025.Peer-Reviewed Original ResearchMeSH KeywordsAcademic Medical CentersAgedAged, 80 and overBiopsy, NeedleDatabases, FactualDisease-Free SurvivalFemaleFollow-Up StudiesHumansImmunohistochemistryLymph NodesLymphatic MetastasisMaleMelanomaMiddle AgedNeoplasm InvasivenessNeoplasm Recurrence, LocalNeoplasm StagingProspective StudiesRisk AssessmentSentinel Lymph Node BiopsySkin NeoplasmsSurvival AnalysisTreatment OutcomeConceptsSentinel lymph node biopsyDesmoplastic melanomaMixed desmoplastic melanomasPure desmoplastic melanomaNodal metastasisDM subtypesSpecific melanoma subtypesAdditional positive nodesLymph node biopsyHigh incidence rateYale Melanoma UnitPaucity of dataPositive SLNCompletion lymphadenectomyPositive nodesDM groupNodal involvementNode biopsyRegional lymphSentinel lymphLocal recurrenceTransit recurrenceClinical outcomesDistant metastasisMelanoma Unit