Browsing by Subject "Clinical diagnosis"

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    Correction to: Inflammatory breast cancer defined: proposed common diagnostic criteria to guide treatment and research
    (Springer, 2022) Jagsi, R.; Mason, G.; Overmoyer, B.A.; Woodward, W.A.; Badve, S.; Schneider, R.J.; Lang, J.E.; Alpaugh, M.; Williams, K.P.; Vaught, D.; Smith, A.; Smith, K.; Miller, K.D.; Medicine, School of Medicine
    Erratum for: Inflammatory breast cancer defined: proposed common diagnostic criteria to guide treatment and research. Jagsi R, Mason G, Overmoyer BA, Woodward WA, Badve S, Schneider RJ, Lang JE, Alpaugh M, Williams KP, Vaught D, Smith A, Smith K, Miller KD; Susan G. Komen-IBCRF IBC Collaborative in partnership with the Milburn Foundation. Breast Cancer Res Treat. 2022 Apr;192(2):235-243. doi: 10.1007/s10549-021-06434-x. Epub 2022 Jan 1. PMID: 34973083
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    Inflammatory breast cancer defined: proposed common diagnostic criteria to guide treatment and research
    (Springer, 2022) Jagsi, R.; Mason, G.; Overmoyer, B.A.; Woodward, W.A.; Badve, S.; Schneider, R.J.; Lang, J.E.; Alpaugh, M.; Williams, K.P.; Vaught, D.; Smith, A.; Smith, K.; Miller, K.D.; Medicine, School of Medicine
    Purpose: Inflammatory breast cancer is a deadly and aggressive type of breast cancer. A key challenge relates to the need for a more detailed, formal, objective definition of IBC, the lack of which compromises clinical care, hampers the conduct of clinical trials, and hinders the search for IBC-specific biomarkers and treatments because of the heterogeneity of patients considered to have IBC. Methods: Susan G. Komen, the Inflammatory Breast Cancer Research Foundation, and the Milburn Foundation convened patient advocates, clinicians, and researchers to review the state of IBC and to propose initiatives to advance the field. After literature review of the defining clinical, pathologic, and imaging characteristics of IBC, the experts developed a novel quantitative scoring system for diagnosis. Results: The experts identified through consensus several "defining characteristics" of IBC, including factors related to timing of onset and specific symptoms. These reflect common pathophysiologic changes, sometimes detectable on biopsy in the form of dermal lymphovascular tumor emboli and often reflected in imaging findings. Based on the importance and extent of these characteristics, the experts developed a scoring scale that yields a continuous score from 0 to 48 and proposed cut-points for categorization that can be tested in subsequent validation studies. Conclusion: To move beyond subjective 'clinical diagnosis' of IBC, we propose a quantitative scoring system to define IBC, based on clinical, pathologic, and imaging features. This system is intended to predict outcome and biology, guide treatment decisions and inclusion in clinical trials, and increase diagnostic accuracy to aid basic research; future validation studies are necessary to evaluate its performance.
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    Sex differences in clinical phenotypes of behavioral variant frontotemporal dementia
    (Wiley, 2025) Liu, Xulin; de Boer, Sterre C. M.; Cortez, Kasey; Poos, Jackie M.; Illán-Gala, Ignacio; Heuer, Hilary; Forsberg, Leah K.; Casaletto, Kaitlin; Memel, Molly; Appleby, Brian S.; Barmada, Sami; Bozoki, Andrea; Clark, David; Cobigo, Yann; Darby, Ryan; Dickerson, Bradford C.; Domoto-Reilly, Kimiko; Galasko, Douglas R.; Geschwind, Daniel H.; Ghoshal, Nupur; Graff-Radford, Neill R.; Grant, Ian M.; Hsiung, Ging-Yuek Robin; Honig, Lawrence S.; Huey, Edward D.; Irwin, David; Kantarci, Kejal; Léger, Gabriel C.; Litvan, Irene; Mackenzie, Ian R.; Masdeu, Joseph C.; Mendez, Mario F.; Onyike, Chiadi U.; Pascual, Belen; Pressman, Peter; Bayram, Ece; Ramos, Eliana Marisa; Roberson, Erik D.; Rogalski, Emily; Bouzigues, Arabella; Russell, Lucy L.; Foster, Phoebe H.; Ferry-Bolder, Eve; Masellis, Mario; van Swieten, John; Jiskoot, Lize; Seelaar, Harro; Sanchez-Valle, Raquel; Laforce, Robert; Graff, Caroline; Galimberti, Daniela; Vandenberghe, Rik; de Mendonça, Alexandre; Tiraboschi, Pietro; Santana, Isabel; Gerhard, Alexander; Levin, Johannes; Sorbi, Sandro; Otto, Markus; Pasquier, Florence; Ducharme, Simon; Butler, Chris R.; Le Ber, Isabelle; Finger, Elizabeth; Rowe, James B.; Synofzik, Matthis; Moreno, Fermin; Borroni, Barbara; Boeve, Brad F.; Boxer, Adam L.; Rosen, Howie J.; Pijnenburg, Yolande A. L.; Rohrer, Jonathan D.; Tartaglia, Maria Carmela; ALLFTD Consortium; GENFI Consortium; Medicine, School of Medicine
    Introduction: Higher male prevalence in sporadic behavioral variant frontotemporal dementia (bvFTD) has been reported. We hypothesized differences in phenotypes between genetic and sporadic bvFTD females resulting in underdiagnosis of sporadic bvFTD females. Methods: We included genetic and sporadic bvFTD patients from two multicenter cohorts. We compared behavioral and cognitive symptoms, and gray matter volumes, between genetic and sporadic cases in each sex. Results: Females with sporadic bvFTD showed worse compulsive behavior (p = 0.026) and language impairments (p = 0.024) compared to females with genetic bvFTD (n = 152). Genetic bvFTD females had smaller gray matter volumes than sporadic bvFTD females, particularly in the parietal lobe. Discussion: Females with sporadic bvFTD exhibit a distinct clinical phenotype compared to females with genetic bvFTD. This difference may explain the discrepancy in prevalence between genetic and sporadic cases, as some females without genetic mutations may be misdiagnosed due to atypical bvFTD symptom presentation. Highlights: Sex ratio is equal in genetic behavioral variant of frontotemporal dementia (bvFTD), whereas more males are present in sporadic bvFTD. Distinct neuropsychiatric phenotypes exist between sporadic and genetic bvFTD in females. Phenotype might explain the sex ratio difference between sporadic and genetic cases.