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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Several studies have analyzed the influence of meteorological and geographical factors on the incidence of COVID-19. Seasonality could be important in the transmission of SARS-CoV-2. This study aims to evaluate the geographical pattern of COVID-19 in Spain and its relationship with different meteorological variables. ⋯ Meteorological and geographical factors could influence the evolution of the pandemic in Spain. Knowledge regarding the seasonality of the virus would help to predict new waves of COVID-19 infections.
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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.