Browsing by Author "Proietti, M"
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- Adherence to the “Atrial Fibrillation Better Care” (ABC) Pathway in Patients with Atrial Fibrillation and Cancer: a Report From the ESC-EHRA EURObservational Research Programme in Atrial Fibrillation (EORP-AF) General Long-Term RegistryPublication . Vitolo, M; Proietti, M; Malavasi, V; Bonini, N; Romiti, G; Imberti, J; Fauchier, L; Marin, F; Nabauer, M; Potpara, T; Dan, GA; Kalarus, Z; Maggioni, A; Lane, D; Lip, G; Boriani, G; Boriani Chair, G; Lip, G; Tavazzi, L; Maggioni, A; Dan, G; Potpara, T; Nabauer, M; Marin, F; Kalarus, Z; Fauchier, L; Goda, A; Mairesse, G; Shalganov, T; Antoniades, L; Taborsky, M; Riahi, S; Muda, P; Bolao, I; Piot, O; Nabauer, M; Etsadashvili, K; Simantirakis, E; Haim, M; Azhari, A; Najafian, J; Santini, M; Mirrakhimov, E; Kulzida, K; Erglis, A; Poposka, L; Burg, M; Crijns, H; Erküner, Ö; Atar, D; Lenarczyk, R; Oliveira, M; Shah, D; Serdechnaya, E; Dan, G; Potpara, T; Diker, E; Lip, G; Lane, DBackground: Implementation of the Atrial fibrillation Better Care (ABC) pathway is recommended by guidelines on atrial fibrillation (AF), but the impact of adherence to ABC pathway in patients with cancer is unknown. Objectives: To investigate the adherence to ABC pathway and its impact on adverse outcomes in AF patients with cancer. Methods: Patients enrolled in the EORP-AF General Long-Term Registry were analyzed according to (i) No Cancer; and (ii) Prior or active cancer and stratified in relation to adherence to the ABC pathway. The composite Net Clinical Outcome (NCO) of all-cause death, major adverse cardiovascular events and major bleeding was the primary endpoint. Results: Among 6550 patients (median age 69 years, females 40.1%), 6005 (91.7%) had no cancer, while 545 (8.3%) had a diagnosis of active or prior cancer at baseline, with the proportions of full adherence to ABC pathway of 30.6% and 25.7%, respectively. Adherence to the ABC pathway was associated with a significantly lower occurrence of the primary outcome vs. non-adherence, both in 'no cancer' and 'cancer' patients [adjusted Hazard Ratio (aHR) 0.78, 95% confidence interval (CI): 0.66-0.92 and aHR 0.59, 95% CI 0.37-0.96, respectively]. Adherence to a higher number of ABC criteria was associated with a lower risk of the primary outcome, being lowest when 3 ABC criteria were fulfilled (no cancer: aHR 0.54, 95%CI: 0.36-0.81; with cancer: aHR 0.32, 95% CI 0.13-0.78). Conclusion: In AF patients with cancer enrolled in the EORP-AF General Long-Term Registry, adherence to ABC pathway was sub-optimal. Full adherence to ABC-pathway was associated with a lower risk of adverse events.
- Characterization of the Clinical and Immunologic Phenotype and Management of 157 Individuals with 56 Distinct Heterozygous NFKB1 MutationsPublication . Lorenzini, T; Fliegauf, M; Klammer, N; Frede, N; Proietti, M; Bulashevska, A; Camacho-Ordonez, N; Varjosalo, M; Kinnunen, M; de Vries, E; van der Meer, JW; Ameratunga, R; Roifman, CM; Schejter, YD; Kobbe, R; Hautala, T; Atschekzei, F; Schmidt, RE; Schröder, C; Stepensky, P; Shadur, B; Pedroza, LA; van der Flier, M; Martínez-Gallo, M; Gonzalez-Granado, LI; Allende, LM; Shcherbina, A; Kuzmenko, N; Zakharova, V; Neves, JF; Svec, P; Fischer, U; Ip, W; Bartsch, O; Barış, S; Klein, C; Geha, R; Chou, J; Alosaimi, M; Weintraub, L; Boztug, K; Hirschmugl, T; Dos Santos Vilela, MM; Holzinger, D; Seidl, M; Lougaris, V; Plebani, A; Alsina, L; Piquer-Gibert, M; Deyà-Martínez, A; Slade, CA; Aghamohammadi, A; Abolhassani, H; Hammarström, L; Kuismin, O; Helminen, M; Allen, HL; Thaventhiran, JE; Freeman, AF; Cook, M; Bakhtiar, s; Christiansen, M; Cunningham-Rundles, C; Patel, NC; Rae, W; Niehues, T; Brauer, N; Syrjänen, J; Seppänen, MJ; Burns, SO; Tuijnenburg, P; Kuijpers, TW; Warnatz, K; Grimbacher, BBackground: An increasing number of NFKB1 variants are being identified in patients with heterogeneous immunologic phenotypes. Objective: To characterize the clinical and cellular phenotype as well as the management of patients with heterozygous NFKB1 mutations. Methods: In a worldwide collaborative effort, we evaluated 231 individuals harboring 105 distinct heterozygous NFKB1 variants. To provide evidence for pathogenicity, each variant was assessed in silico; in addition, 32 variants were assessed by functional in vitro testing of nuclear factor of kappa light polypeptide gene enhancer in B cells (NF-κB) signaling. Results: We classified 56 of the 105 distinct NFKB1 variants in 157 individuals from 68 unrelated families as pathogenic. Incomplete clinical penetrance (70%) and age-dependent severity of NFKB1-related phenotypes were observed. The phenotype included hypogammaglobulinemia (88.9%), reduced switched memory B cells (60.3%), and respiratory (83%) and gastrointestinal (28.6%) infections, thus characterizing the disorder as primary immunodeficiency. However, the high frequency of autoimmunity (57.4%), lymphoproliferation (52.4%), noninfectious enteropathy (23.1%), opportunistic infections (15.7%), autoinflammation (29.6%), and malignancy (16.8%) identified NF-κB1-related disease as an inborn error of immunity with immune dysregulation, rather than a mere primary immunodeficiency. Current treatment includes immunoglobulin replacement and immunosuppressive agents. Conclusions: We present a comprehensive clinical overview of the NF-κB1-related phenotype, which includes immunodeficiency, autoimmunity, autoinflammation, and cancer. Because of its multisystem involvement, clinicians from each and every medical discipline need to be made aware of this autosomal-dominant disease. Hematopoietic stem cell transplantation and NF-κB1 pathway-targeted therapeutic strategies should be considered in the future.