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Three-dimensional Evaluation of Gait: Kinetics, Kinematics, and Electromyographic in Patients with Mucopolysacharidosis Types IV and VI.
Rev Bras Ortop (Sao Paulo)
October 2024
Universidade Federal de Pernambuco, Recife, PE, Brasil.
This study evaluated and determined, through instrumented three-dimensional (3D) gait analysis, the kinetic, kinematic, and electromyographic profile of patients with mucopolysaccharidosis (MPS) IV and VI. This crossectional study included 11 patients treated at a rare diseases reference service and evaluated in a movement analysis laboratory. We collected clinical, physical examination, and kinetic, kinematic, and electromyographic data using a 3D movement system, from June 2020 to January 2021.
View Article and Find Full Text PDFMorphological abnormalities in the white blood cells of a baby with type VI mucopolysaccharidosis.
Ann Biol Clin (Paris)
November 2024
Laboratory of hematology, CHU Brugmann LHUB-ULB site Horta 4, Pl Van Gehuchten, 1020 Brussels Belgium.
Molecular analysis of mucopolysaccharidosis type VI in Iranian patients; the influence of founder effect and consanguinity.
Mol Biol Rep
November 2024
Children Growth Disorder Research Center, Shahid Sadoughi University of Medical Sciences, Yazd, Iran.
Background: Mucopolysaccharidosis type VI (MPS VI), also known as Manteaux-Lamy syndrome, is an autosomal recessive lysosomal storage disorder caused by deficiency of the enzyme arylsulfatase B(ARSB). This syndrome is progressive and affects many tissues and organs, leading to inflammation and scarring. The classic clinical features of Maroteaux-Lamy syndrome are significant impairment of the osteoarticular system with dysostosis multiplex, short stature and motor dysfunction.
View Article and Find Full Text PDFEndocannabinoid receptor 2 is a potential biomarker and therapeutic target for the lysosomal storage disorders.
J Inherit Metab Dis
January 2025
Department of Genetics & Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, New York, USA.
Article Synopsis
- The study investigated the expression of the endocannabinoid receptor 2 (CB2R) in various animal models of lysosomal storage disorders (LSDs) to evaluate its potential as a biomarker and therapeutic target.
- CB2R levels were significantly increased in the plasma and tissues of specific LSD models, such as Farber disease and mucopolysaccharidosis type IIIA, while other models showed minimal or no increase.
- Treatment with CB2R agonists not only reduced CB2R and inflammatory markers like MCP-1 in LSD patient cells and mice but also improved their performance in functional tests, suggesting the need for further research on CB2R as a therapeutic target and biomarker for monitoring treatment efficacy.
Retinopathy in Mucopolysaccharidoses.
Ophthalmology
November 2024
Manchester Royal Eye Hospital, Manchester University Hospitals NHS Foundation Trust, Manchester, United Kingdom; School of Biological Sciences, Medicine and Health, The University of Manchester, Manchester, United Kingdom. Electronic address:
Purpose: To determine the pattern(s) of onset, variation, and progression of retinopathy in patients with Mucopolysaccharidosis (MPS).
Design: Prospective, longitudinal, observational study.
Participants: Between November 2015 and March 2023, individuals with MPS were recruited from Ophthalmology clinics at the Manchester Royal Eye Hospital, United Kingdom.
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