Journal of clinical laboratory analysis
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J. Clin. Lab. Anal. · May 2019
Clinical features and disease severity of Turkish FMF children carrying E148Q mutation.
Familial Mediterranean fever (FMF) is the most common hereditary monogenic autoinflammatory disease caused by mutations in the MEFV gene. It is controversial whether E148Q alteration is an insignificant variant or a disease-causing mutation. The aim of this study was to evaluate the clinical features and disease severity of FMF patients carrying E148Q mutation. ⋯ Familial Mediterranean fever patients with only E148Q mutation are presenting with late-onset and milder disease course despite having similar clinical findings as compared with patients who had other mutations. Finally, we imply that E148Q is a mutation and colchicine treatment should be given.
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J. Clin. Lab. Anal. · May 2019
The potential value of red blood cell distribution width in patients with invasive hydatidiform mole.
Red blood cell distribution width (RDW) has attracted increasing attention in cancer. The aim of this study was to assess the changes of RDW in patients with invasive hydatidiform mole and analyze the relationship between RDW and invasive hydatidiform mole. ⋯ This study reveals the potential value of RDW in invasive hydatidiform mole.