Federica Pallotti

Inflammatory cell death and monocyte dysfunction in VEXAS syndrome

Paul Breillat, Samuel J. Magaziner, Stéphane M. Camus, Léa Dionet et autres

ABSTRACT: VEXAS (vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic) syndrome is a severe adult-onset autoinflammatory disease caused by somatic mutations in the UBA1 gene, disrupting cytoplasmic ubiquitin-activating enzyme E1 function in hematopoietic progenitors. Its pathogenesis remains poorly understood, particularly the mechanisms by which …

fr, us (code pays fourni par la source)

Long-Term Follow-Up and Quality of Life

Olga Nigro, Alessandro Cattoni, Francesca Filippi, Marta Podda et autres

it (code pays fourni par la source)

Overlapping forms of granulomatosis with polyangiitis and eosinophilic granulomatosis with polyangiitis: Insights from a European multicenter study

Federica Pallotti, C. Mettler, Matthias Papo, Michele Iudici et autres

BACKGROUND: Granulomatosis with polyangiitis (GPA) and eosinophilic granulomatosis with polyangiitis (EGPA) are distinct forms of antineutrophil cytoplasm antibody (ANCA)-associated vasculitis (AAV). Increasing evidence suggests overlapping features, particularly in proteinase 3 (PR3)-ANCA-positive EGPA and GPA with eosinophilia. This study aimed to characterize overlapping …

fr, ch, us, it, ru, gb, ca, nl, de, nc, pt, ie (code pays fourni par la source)

UBA1 Mutations Drive RIPK1-Mediated Cell Death and Monocyte Dysfunction in VEXAS Syndrome

Paul Breillat, Samuel J. Magaziner, Stéphane M. Camus, Léa Dionet et autres

Abstract VEXAS syndrome is a severe adult-onset autoinflammatory disease caused by somatic mutations in UBA1 gene, disrupting cytoplasmic ubiquitin-activating enzyme E1 function in hematopoietic progenitors. The pathogenesis remains poorly understood, particularly how UBA1 mutations perturb myeloid function. Here, we combine a genetically …

fr, us, ca (code pays fourni par la source)

Efficacité de l’augmentation de dose du mépolizumab de 100 à 300 mg/mois en cas de réponse insuffisance au cours de la granulomatose éosinophilique avec polyangéite (GEPA)

Federica Pallotti, Philippe Bonniaud, S. Perrine, Sue Maillard et autres

fr (code pays fourni par la source)

Carfilzomib-Induced Thrombotic Microangiopathy Treated with Eculizumab: A Case Report and Rapid Literature Review

Federica Pallotti, Claire Queffeulou, Mathieu Bellal, Bastien Jean‐Jacques et autres

Background: Thrombotic microangiopathies (TMAs) can be induced by drugs. Recent works have indicated proteasome inhibitors, including carfilzomib, as a possible new causative agent. Although the physiopathology and management of carfilzomib-induced TMA are still unknown, eculizumab seems to be efficient. Results: We report …

fr (code pays fourni par la source)

Secreting Germ Cell Tumors of the Central Nervous System: A Long-Term Follow-up Experience

Veronica Biassoni, Elisabetta Schiavello, Lorenza Gandola, Emilia Pecori et autres

INTRODUCTION: Due to the rarity of nongerminomatous germ cell tumors (NGGCT) with non-standard treatment as yet, we report retrospectively our 30 year experience with chemotherapy followed by craniospinal irradiation (CSI), plus a boost of whole ventricular irradiation (WVI)/tumor bed (TB), tailored to …

it (code pays fourni par la source)

Reduced-dose craniospinal irradiation is feasible for standard-risk adult medulloblastoma patients

Maura Massimino, Marie Pierre Sunyach, Francesco Barretta, Lorenza Gandola et autres

it, fr (code pays fourni par la source)

Precocious pseudopuberty, a paraneoplastic manifestation: a report of 2 cases

Giovanna Gattuso, Michela Casanova, Veronica Biassoni, Monica Terenziani et autres

Peripheral precocious puberty (PPP) may be a paraneoplastic manifestation, associated with beta human chorionic gonadotropin (β-hCG)-secreting tumors. We describe 2 young children with β-hCG-secreting tumors presenting with signs of pubertal activation. In the first patient, a 16-month-old boy with hepatoblastoma, only initial …

it (code pays fourni par la source)

Long-term safety of growth hormone replacement therapy after childhood medulloblastoma and PNET: it is time to set aside old concerns

Alice Indini, Elisabetta Schiavello, Veronica Biassoni, Luca Bergamaschi et autres

it (code pays fourni par la source)

Long-term results of combined preradiation chemotherapy and age-tailored radiotherapy doses for childhood medulloblastoma

Maura Massimino, Graziella Cefalo, Daria Riva, Veronica Biassoni et autres

it (code pays fourni par la source)

Radiation-induced thyroid changes: A retrospective and a prospective view

Maura Massimino, Lorenza Gandola, Franco Mattavelli, Natalia Pizzi et autres

it (code pays fourni par la source)