Medicina clinica
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Case Reports Multicenter Study
Importance of the determination of enzymatic activity in the diagnosis of deficiency of adenosine deaminase 2 (DADA2).
To describe the usefulness of determining the enzymatic activity of adenosine deaminase 2 (ADA2) in patients with suspected ADA2 deficiency (DADA2). ⋯ The reduced enzymatic detection of ADA2 confirms the diagnosis of DADA2, particularly important in carriers of variants of uncertain significance in CECR1.
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Autoimmune hepatitis is a chronic inflammatory disease of the liver. The etiology is partly unknown and commonly affects women of all ages. ⋯ The treatment is based on the combination of corticoids and azathioprine, but 20-40% of patients require second- or third-line therapies due to intolerance or insufficient response. Here, we will revise the most important aspects regarding the diagnosis and treatment of autoimmune hepatitis emphasizing the challenges faced in clinical practice.
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The implications of Covid-19 in patients with Behçet's disease (BD) are unknown. Patients with BD usually take long-term therapy with therapeutic agents that have been tested in Covid-19 patients. We aimed to assess the prevalence of Covid-19 in a cohort of patients with BD and investigate whether those patients with a long-term treatment with colchicine, tumor necrosis factor inhibitors (TNFi) or glucocorticoids are at reduced or increased prevalence of Covid-19 related clinical outcomes. ⋯ The prevalence of Covid-19 among patients with BD seems to be higher than that among the general population in Spain. Continuous TNFi therapy might increase the prevalence of worse clinical outcomes such as dyspnea; oral glucocorticoids and colchicine apparently provided no protection against the Covid-19 related clinical outcomes of patients with BD.