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Early Severe Cortical Involvement and Novel FUCA1 Mutations in a Pediatric Fucosidosis Case.
Mol Genet Genomic Med
February 2025
Department of Pediatric Neurology, Hospital Universitario Quirónsalud, Madrid, Spain.
Background: Biallelic pathogenic variants in the FUCA1 gene are associated with fucosidosis. This report describes a 4-year-old boy presenting with psychomotor regression, spasticity, and dystonic postures.
Methods And Results: Trio-based whole exome sequencing revealed two previously unreported loss-of-function variants in the FUCA1 gene.
VEXAS, Chediak-Higashi syndrome and Danon disease: myeloid cell endo-lysosomal pathway dysfunction as a common denominator?
Cell Mol Biol Lett
January 2025
University Cote d'Azur, Inserm, C3M, Nice, France.
Vacuolization of hematopoietic precursors cells is a common future of several otherwise non-related clinical settings such as VEXAS, Chediak-Higashi syndrome and Danon disease. Although these disorders have a priori nothing to do with one other from a clinical point of view, all share abnormal vacuolization in different cell types including cells of the erythroid/myeloid lineage that is likely the consequence of moderate to drastic dysfunctions in the ubiquitin proteasome system and/or the endo-lysosomal pathway. Indeed, the genes affected in these three diseases UBA1, LYST or LAMP2 are known to be direct or indirect regulators of lysosome trafficking and function and/or of different modes of autophagy.
View Article and Find Full Text PDFRecovery process of patients with iliac vein compression syndrome after stenting: a grounded theory study.
BMC Cardiovasc Disord
January 2025
School of Nursing and Midwifery, Griffith University, Southport, QLD 4215, Australia.
Background: Iliac vein compression syndrome (IVCS) impedes venous blood return from the lower extremities due to iliac vein compression, manifesting as leg swelling, varicose veins, and thrombosis. These symptoms significantly degrade quality of life. Although iliac vein stenting provides symptomatic relief, the recovery process is protracted and fraught with challenges such as in-stent restenosis and psychological distress.
View Article and Find Full Text PDFLabel-free proteomic analysis of Duchenne and Becker muscular dystrophy showed decreased sarcomere proteins and increased ubiquitination-related proteins.
Sci Rep
January 2025
Graduate Course in Medicine (Pathological Anatomy), Federal University of Rio de Janeiro, Rio de Janeiro, Brazil.
Muscular dystrophies (MD) are a group of hereditary diseases marked by progressive muscle loss, leading to weakness and degeneration of skeletal muscles. These conditions often result from structural defects in the Dystrophin-Glycoprotein Complex (DGC), as seen in Duchenne Muscular Dystrophy (DMD) and Becker Muscular Dystrophy (BMD). Since MDs currently have no cure, research has focused on identifying potential therapeutic targets to improve patients' quality of life.
View Article and Find Full Text PDFA comprehensive analysis of trends in the burden of gout in China and globally from 1990 to 2021.
Sci Rep
January 2025
Panzhihua Central Hospital, No. 34, Yikang Street, East District, Panzhihua City, 617067, Sichuan Province, China.
Gout is a prevalent metabolic disorder characterized by urate crystal accumulation in joints, leading to acute arthritis and tophi formation. Despite advancements in management, the incidence and prevalence of gout have been increasing globally, particularly in China. This study analyzed data from the Global Burden of Disease Injuries and Risk Factors Study (GBD) to evaluate trends in gout from 1990 to 2021.
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