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Introduction: The aim of this study was to define the relationships between factors other than transferrin saturation (TS) to mean corpuscular volume (MCV) and macrocytosis (MCV > 100 fL) in p.C282Y (rs1800562) homozygotes.

Methods: We studied white post-screening participants with p.

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Introduction: Eculizumab is a C5 complement inhibitor approved by the FDA for the targeted treatment of four rare diseases, paroxysmal nocturnal hemoglobinuria (PNH), atypical hemolytic uremic syndrome (aHUS), generalized myasthenia gravis (gMG), and aquaporin-4 immunoglobulin G-positive optic neuromyelitis optica spectrum disorders (AQP4-IgG+NMOSD). The current study was conducted to assess real-world adverse events (AEs) associated with eculizumab through data mining of the FDA Adverse Event Reporting System (FAERS).

Methods: Disproportionality analyses, including Reporting Ratio Ratio (ROR), Proportional Reporting Ratio (PRR), Bayesian Confidence Propagation Neural Network (BCPNN), and Multi-Item Gamma Poisson Shrinker (MGPS) algorithms were used to quantify the signals of eculizumab-associated AEs.

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TERT de novo mutation-associated dyskeratosis congenita and porto-sinusoidal vascular disease: a case report.

J Med Case Rep

January 2025

Department of Hepatic Biliary Pancreatic Medicine, First Hospital of Jilin University, 1 Xinmin Avenue, Changchun, 130021, China.

Background: Dyskeratosis congenita is a rare genetic disease due to telomere biology disorder and characterized by heterogeneous clinical manifestations and severe complications. "Porto-sinusoidal vascular disease" has been recently proposed, according to new diagnostic criteria, to replace the term "idiopathic non-cirrhotic portal hypertension." TERT plays an important role in telomeric DNA repair and replication.

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Folate metabolism in myelofibrosis: a missing key?

Ann Hematol

January 2025

Department of Medicine and Surgery, Anatomy Unit, University of Parma, Via Gramsci 14, Parma, 43126, Italy.

Folates serve as key enzyme cofactors in several biological processes. Folic acid supplementation is a cornerstone practice but may have a "dark side". Indeed, the accumulation of circulating unmetabolized folic acid (UMFA) has been associated with various chronic inflammatory conditions, including cancer.

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Background: (Lour.) Merr. is a plant used in traditional Chinese medicine that reduces hepatotoxicity, relieves kidney discomfort, and has anti-inflammatory and antioxidant properties.

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