Medicina clinica
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Review
Paradigm shift in monogenic autoinflammatory diseases and systemic vasculitis: The VEXAS syndrome.
VEXAS syndrome was described by the end of 2020 as an autoinflammatory disease caused by post-zygotic variants in the UBA1 gene. VEXAS syndrome occurs in adult males with recurrent fever, arthralgia/arthritis, ear/nose chondritis, neutrophilic dermatosis, lung inflammation, venous thrombosis, and different types of vasculitis. Common laboratory changes include raised acute phase reactants and macrocytic anemia. ⋯ Azacitidine has been associated with a good response, especially in patients with accompanying myelodysplastic syndrome. Allogeneic hematopoietic stem cell transplantation appears to be the only curative therapy by now. VEXAS syndrome has become a paradigm shift in the diagnosis and treatment of autoinflammatory diseases and systemic vasculitis.
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Diagnosing pulmonary thromboembolism (PTE) is difficult. Clinical probability scales (CPS) can help. The aim is to find out which one is the best. ⋯ The YEARS scale is shown to be better than the others due to its potential greater number of imaging tests avoided and the degree of application of the CPS could be improved.