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Defective Slc7a7 transport reduces erythropoietin compromising erythropoiesis.
Mol Med
January 2025
Institute for Research in Biomedicine (IRB Barcelona), The Barcelona Institute of Science and Technology (BIST), Barcelona, Spain.
Background: Lysinuric protein intolerance is a rare autosomal disorder caused by mutations in the Slc7a7 gene that lead to impaired transport of neutral and basic amino acids. The gold standard treatment for lysinuric protein intolerance involves a low-protein diet and citrulline supplementation. While this approach partially improves cationic amino acid plasma levels and alleviates some symptoms, long-term treatment is suggested to be detrimental and may lead to life-threatening complications characterized by a wide range of hematological and immunological abnormalities.
View Article and Find Full Text PDFLearning by making - student-made models and creative projects for medical education: systematic review with qualitative synthesis.
BMC Med Educ
January 2025
Department of Anatomy, Clinical Sciences Building, Lee Kong Chian School of Medicine, Nanyang Technological University, Singapore, 308323, Singapore.
Study Objective: Student-centered learning and unconventional teaching modalities are gaining popularity in medical education. One notable approach involves engaging students in producing creative projects to complement the learning of preclinical topics. A systematic review was conducted to characterize the impact of creative project-based learning on metacognition and knowledge gains in medical students.
View Article and Find Full Text PDFEngineering synthetic signaling receptors to enable erythropoietin-free erythropoiesis.
Nat Commun
January 2025
Department of Surgery, University of California, San Francisco, San Francisco, CA, USA.
Blood transfusion plays a vital role in modern medicine, but frequent shortages occur. Ex vivo manufacturing of red blood cells (RBCs) from universal donor cells offers a potential solution, yet the high cost of recombinant cytokines remains a barrier. Erythropoietin (EPO) signaling is crucial for RBC development, and EPO is among the most expensive media components.
View Article and Find Full Text PDFDynamic simulation of breast behaviour during different activities based on finite element modelling of multiple components of breast.
Sci Rep
January 2025
School of Fashion and Textiles, The Hong Kong Polytechnic University, Hung Hom, Kowloon, Hong Kong, China.
This study presents an advanced dynamic finite element (FE) model of multiple components of the breast to examine the biomechanical impact of different types of physical activities and activity intensity on the breast tissues. Using 4D scanning and motion capture technologies, dynamic data are collected during different activities. The accuracy of the FE model is verified based on relative mean absolute error (RMAE), and optimal material parameters are identified by using a validated stepwise grid search method.
View Article and Find Full Text PDFK1 channels enable myelinated axons to transmit spikes reliably without spiking ectopically.
J Neurosci
January 2025
Neurosciences and Mental Health, The Hospital for Sick Children, Toronto, Ontario, Canada
Action potentials (spikes) are regenerated at each node of Ranvier during saltatory transmission along a myelinated axon. The high density of voltage-gated sodium channels required by nodes to reliably transmit spikes increases the risk of ectopic spike generation in the axon. Here we show that ectopic spiking is avoided because K1 channels prevent nodes from responding to slow depolarization; instead, axons respond selectively to rapid depolarization because K1 channels implement a high-pass filter.
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