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http://dx.doi.org/10.31083/j.rcm2504137 | DOI Listing |
Transl Oncol
January 2025
The First Affiliated Hospital of Guangxi Medical University, Nanning, China. Electronic address:
Background: Sarcomas (SARC) are a diverse group of malignant tumors originating from mesenchymal tissues, characterized by poor prognosis under conventional therapies. CX3CR1, a chemokine receptor involved in immune cell migration, has emerged as a key player in SARC. Post-translational modifications (PTMs) such as phosphorylation and ubiquitination critically modulate CX3CR1, influencing cancer progression, immune responses, and treatment resistance.
View Article and Find Full Text PDFJ Clin Invest
January 2025
Center for Inherited Myology Research, Virginia Commonwealth University, Richmond, United States of America.
Background: Myotonic dystrophy type 1 (DM1) is a multisystemic, CTG repeat expansion disorder characterized by a slow, progressive decline in skeletal muscle function. A biomarker correlating RNA mis-splicing, the core pathogenic disease mechanism, and muscle performance is crucial for assessing response to disease-modifying interventions. We evaluated the Myotonic Dystrophy Splice Index (SI), a composite RNA splicing biomarker incorporating 22 disease-specific events, as a potential biomarker of DM1 muscle weakness.
View Article and Find Full Text PDFFront Pediatr
January 2025
Division of Metabolic Diseases and Hepatology, Ospedale Pediatrico Bambino Gesù, IRCCS, Rome, Italy.
Acid sphingomyelinase deficiency (ASMD) is a rare, progressive lysosomal storage disorder resulting from a deficiency in acid sphingomyelinase, leading to sphingomyelin accumulation and multi-organ damage. ASMD presents a broad phenotypic spectrum with a continuum of severity, making it challenging to predict the phenotype in very young children and differentiate between acute and chronic neurovisceral disease. No disease-specific treatments existed for ASMD.
View Article and Find Full Text PDFJ Magn Reson Imaging
January 2025
Neuromuscular Research Center, Department of Neurology, Shariati Hospital, Tehran University of Medical Sciences, Tehran, Iran.
Background: Quantitative Susceptibility Mapping (QSM) provides a non-invasive post-processing method to investigate alterations in magnetic susceptibility (χ), reflecting iron content within brain regions implicated in neurodegenerative diseases (NDDs).
Purpose: To investigate alterations in thalamic χ in patients with NDDs using QSM.
Study Type: Systematic review and meta-analysis.
Curr Cardiol Rep
January 2025
Division of Rheumatology, Department of Internal Medicine, Texas Tech Health Sciences Center El Paso, Paul L. Foster School of Medicine, El Paso, TX, USA.
Purpose Of Review: To highlight advancements in managing traditional and rheumatoid arthritis (RA) specific risk factors and the impact of RA treatments on cardiovascular outcomes.
Recent Findings: Advancements in rheumatoid arthritis management have paralleled declining trends in cardiovascular disease risks. Biomarkers like CRP, Lipoprotein(a), Apolipoprotein B 100, and imaging tools such as coronary artery calcium scoring enhance cardiovascular risk stratification, particularly in intermediate-risk RA patients.
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