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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 PDFLangerhans cell histiocytosis in children: the value of ultrasound in diagnosis and follow-up.
BMC Med Imaging
January 2025
Department of Ultrasound Medicine, First Affiliated Hospital, Fujian Medical University, Fuzhou, 350005, China.
Background: Langerhans cell histiocytosis (LCH) is a rare disease, most prevalent in children. Ultrasound is a noninvasive, cheap, and widely available technique. However, systematic elucidation of sonographic features of LCH and treatment related follow-up are relatively few, resulting in overall underestimation of the clinical value of ultrasound in diagnosing and monitoring LCH.
View Article and Find Full Text PDFLarge exciton binding energy in a bulk van der Waals magnet from quasi-1D electronic localization.
Nat Commun
January 2025
Department of Physics, University of Michigan, Ann Arbor, MI, USA.
Excitons, bound electron-hole pairs, influence the optical properties in strongly interacting solid-state systems and are typically most stable and pronounced in monolayer materials. Bulk systems with large exciton binding energies, on the other hand, are rare and the mechanisms driving their stability are still relatively unexplored. Here, we report an exceptionally large exciton binding energy in single crystals of the bulk van der Waals antiferromagnet CrSBr.
View Article and Find Full Text PDFTransient Photoluminescence Reveals the Dynamics of Injected Charge Carriers in Perovskite Light-Emitting Diodes.
ACS Appl Mater Interfaces
January 2025
Center for Physical Sciences and Technology, Saulėtekio av.3, 10257 Vilnius, Lithuania.
Understanding the dynamics of injected charge carriers is crucial for the analysis of the perovskite light-emitting diode (PeLED) operation. The behavior of the injected carriers largely dictates the external quantum efficiency (EQE) roll-off at high current densities and the temperature dependence of the EQE in PeLEDs. However, limitations such as sample capacitance and external circuitry hinder precise control of carrier injection rates, making it challenging to directly track the dynamics of individual carriers.
View Article and Find Full Text PDFIdentification of the molecular characterization and tumor microenvironment of thoracic inflammatory myofibroblastic tumors.
J Formos Med Assoc
January 2025
Department of Internal Medicine, National Taiwan University Cancer Center, Taipei, Taiwan; Department of Internal Medicine, National Taiwan University Hospital, Taipei, Taiwan. Electronic address:
Background: Inflammatory myofibroblastic tumors (IMTs), rare soft tissue neoplasms, are characterized by a blend of myofibroblastic proliferation and inflammatory features. While generally characterized by slow growth, IMTs can exhibit locally aggressive behavior, and in rare instances, metastasize to distant sites. This study elucidated the clinical characteristics, molecular profile, and tumor microenvironment of thoracic IMTs.
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