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Evaluation of Lyso-Gb1 as a biomarker for Gaucher disease treatment outcomes using data from the Gaucher Outcome Survey.
Orphanet J Rare Dis
January 2025
Department of Gastroenterology, Hepatology and Infectious Diseases, University Hospital, Heinrich- Heine University, Düsseldorf, Germany.
Background: Patients with Gaucher disease (GD) require continual monitoring; however, lack of specific disease biomarkers was a significant challenge in the past. Glucosylsphingosine (lyso-Gb1) has been shown to be a reliable, key, specific, and sensitive biomarker for diagnosis, prognosis, and treatment response in clinical studies of patients with GD. We evaluated the change in lyso-Gb1 concentration over time following enzyme replacement therapy in patients with confirmed GD using real-world data from the Gaucher Outcome Survey disease registry.
View Article and Find Full Text PDFNiche-derived Semaphorin 4A safeguards functional identity of myeloid-biased hematopoietic stem cells.
Nat Aging
January 2025
Translational Science and Therapeutics Division, Fred Hutchinson Cancer Research Center, Seattle, WA, USA.
Somatic stem cell pools comprise diverse, highly specialized subsets whose individual contribution is critical for the overall regenerative function. In the bone marrow, myeloid-biased hematopoietic stem cells (myHSCs) are indispensable for replenishment of myeloid cells and platelets during inflammatory response but, at the same time, become irreversibly damaged during inflammation and aging. Here we identify an extrinsic factor, semaphorin 4A (Sema4A), which non-cell-autonomously confers myHSC resilience to inflammatory stress.
View Article and Find Full Text PDFRNAseq of peripheral blood mononucleated cells exposed to platelet-rich fibrin and enamel matrix derivatives.
Sci Rep
January 2025
Department of Oral Biology, University Clinic of Dentistry, Medical University of Vienna, Sensengasse 2a, 1090, Vienna, Austria.
Platelet-rich fibrin (PRF) and Enamel Matrix Derivatives (EMD) can support the local regenerative events in periodontal defects. There is reason to suggest that PRF and EMD exert part of their activity by targeting the blood-derived cells accumulating in the early wound healing blastema. However, the impact of PRF and EMD on blood cell response remains to be discovered.
View Article and Find Full Text PDFInteraction and cleavage of cell and plasma proteins by the platelet-aggregating serine protease PA-BJ of Bothrops jararaca venom.
Biochimie
January 2025
Laboratory of Applied Toxinology, Center of Toxins, Immune-Response and Cell Signaling (CeTICS), Butantan Institute, São Paulo, Brazil. Electronic address:
PA-BJ is a serine protease present in Bothrops jararaca venom that triggers platelet aggregation and granule secretion by activating the protease-activated receptors PAR-1 and PAR-4, without clotting fibrinogen. These receptors also have a relevant role in endothelial cells, however, the interaction of PA-BJ with other membrane-bound or soluble targets is not known. Here we explored the activity of PA-BJ on endothelial cell receptor, cytoskeleton, and coagulation proteins in vitro, and show the degradation of fibrinogen and protein C, and the limited proteolysis of actin, EPCR, PAR-1, and thrombomodulin.
View Article and Find Full Text PDFVariability in Coagulation Profiles in Patients with Chronic Kidney Disease and Peripheral Artery Disease.
Ann Vasc Surg
January 2025
Division of Vascular and Endovascular Surgery, Massachusetts General Hospital, Boston, MA. Electronic address:
Objectives: Chronic Kidney Disease (CKD) has been associated with a prothrombotic state. CKD affects hemostasis through altered platelet function and coagulation factors. Traditional tests provide limited insight into these changes.
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