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The PROPHECI trial: a phase II, double-blind, placebo-controlled, randomized clinical trial for the treatment of pseudoxanthoma elasticum with oral pyrophosphate.
Trials
January 2025
Université Côte d'Azur, CNRS, LP2M, Nice, France.
Background: /aims. Pseudoxanthoma Elasticum (PXE, OMIM 264800) is an autosomal, recessive, metabolic disorder characterized by progressive ectopic calcification in the skin, the vasculature and Bruch's membrane. Variants in the ABCC6 gene are associated with low plasma pyrophosphate (PPi) concentration.
View Article and Find Full Text PDFMolecular basis of vitamin K driven γ-carboxylation at membrane interface.
Nature
January 2025
Department of Biochemistry and Molecular Biophysics, Washington University School of Medicine, St. Louis, MO, USA.
The γ-carboxylation of glutamate residues enables Ca-mediated membrane assembly of protein complexes that support broad physiological functions including hemostasis, calcium homeostasis, immune response, and endocrine regulation. Modulating γ-carboxylation level provides prevalent treatments for hemorrhagic and thromboembolic diseases. This unique posttranslational modification requires vitamin K hydroquinone (KH) to drive highly demanding reactions catalyzed by the membrane-integrated γ-carboxylase (VKGC).
View Article and Find Full Text PDFPediatric Immune Thrombocytopenia: The Impact of Antithyroid Antibodies on the Treatment Outcomes.
Clin Pediatr (Phila)
February 2025
Department of Biochemistry, University Children's Hospital Belgrade, Beograd, Serbia.
Immune thrombocytopenic purpura (ITP) is an acquired immune-mediated bleeding disorder characterized by isolated low platelet (PLT) counts. Immune thrombocytopenic purpura pathogenesis involves multiple immune mechanisms causing PLT destruction and inadequate production. Owing to impaired immune homeostasis, ITP patients can develop other than anti-PLT autoantibodies even in the absence of clinical signs of autoimmune disease, such as anti-thyroglobulin (TG) and anti-thyroperoxidase (TPO) antibodies.
View Article and Find Full Text PDFSimultaneous total hip and knee arthroplasties in hemophilic arthropathy: series of 5 cases.
Acta Orthop Traumatol Turc
December 2024
Department of Orthopedics and Traumatology, Ege University School of Medicine, Izmir, Türkiye.
Objective: This study aimed to compare preoperative and postoperative measures in haemophiliacs who had simultaneous total hip and knee arthroplasties.
Methods: A retrospective database search identified five patients with severe factor 8 deficiencies who underwent simultaneous hip and knee joint replacement surgery between 2002-2018. Preoperative and postoperative evaluations included Harris Hip Score (HHS), Knee Society Score (KSS), Knee Injury and Osteoarthritis Outcome Score (KOOS), range of motion, flexion contracture (FC), Visual Analog Scale (VAS), hip-knee angle, and leg length discrepancy.
Rapamycin-resistant polyclonal Th1/Tc1 cell therapy (RAPA-201) safely induces disease remissions in relapsed, refractory multiple myeloma.
J Immunother Cancer
January 2025
Rapa Therapeutics, Rockville, Maryland, USA.
Background: Polyclonal autologous T cells that are epigenetically reprogrammed through mTOR inhibition and IFN-α polarization (RAPA-201) represent a novel approach to the adoptive T cell therapy of cancer. Ex vivo inhibition of mTOR results causes a shift towards T central memory (T) whereas ex vivo IFN-α promotes type I cytokines, with each of these functions known to enhance the adoptive T cell therapy of cancer. Rapamycin-resistant T cells polarized for a type II cytokine phenotype were previously evaluated in the allogeneic transplantation context.
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