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Cardiac dysfunction and altered gene expression in acid ceramidase-deficient mice.
Am J Physiol Heart Circ Physiol
January 2025
Department of Pediatrics, Medical College of Wisconsin, Milwaukee, Wisconsin, United States.
Farber disease (FD) is an ultrarare, autosomal-recessive, lysosomal storage disorder attributed to gene mutations. FD is characterized by acid ceramidase (ACDase) deficiency and the accumulation of ceramide in various tissues. Classical FD patients typically manifest symptoms including lipogranulomatosis, respiratory complications, and neurological deficits, often leading to mortality during infancy.
View Article and Find Full Text PDFA whole-animal phenotypic drug screen identifies suppressors of atherogenic lipoproteins.
bioRxiv
January 2025
Department of Biology, Johns Hopkins University, Baltimore, United States.
Lipoproteins are essential for lipid transport in all bilaterians. A single Apolipoprotein B (ApoB) molecule is the inseparable structural scaffold of each ApoB-containing lipoprotein (B-lps), which are responsible for transporting lipids to peripheral tissues. The cellular mechanisms that regulate ApoB and B-lp production, secretion, transport, and degradation remain to be fully defined.
View Article and Find Full Text PDF[Therapeutic perspectives for lysosomal storage disorders caused by acid ceramidase deficiency].
Med Sci (Paris)
November 2024
Généthon, Évry, France - Université Paris-Saclay, Univ Évry, Inserm, Généthon, Integrare research unit UMR_S951, Évry, France.
Article Synopsis
- * ACDase deficiency leads to harmful buildup of ceramides, causing inflammation and affecting both the nervous and peripheral systems in varying degrees.
- * Currently, there are no specific or curative treatments for these diseases; the text reviews their clinical characteristics, enzyme roles, mouse models used for research, and potential therapies.
Article Synopsis
- This study investigates surgical outcomes for patients over 75 years old undergoing lateral lumbar interbody fusion (LLIF) for degenerative spine disease, focusing on complications, recovery, and long-term results.* -
- The authors analyzed data from 52 patients, averaging 78.6 years old, who had surgery between 2017 and 2022, finding significant improvements in disability and pain scores after the procedure.* -
- One year post-surgery, 88% of treated levels showed successful bone fusion, while age didn't significantly affect most perioperative outcomes apart from changes in back pain scores.*
Prevalence of metabolic syndrome among adults treated at a district hospital outpatient department.
S Afr Fam Pract (2004)
September 2024
Department of Family Medicine, Faculty of Health Sciences, University of the Free State, Bloemfontein.
Background: Metabolic syndrome (MetS) is a collection of risk factors, including hypertension, high fasting blood glucose, high fasting triglyceride and low high-density lipoprotein (HDL) cholesterol levels that may increase the risk for cardiovascular disease and type 2 diabetes. The study aimed to determine the prevalence of MetS among adults attending a Free State district hospital's outpatient department.
Methods: A cross-sectional study included a consecutive sample of consenting patients 18 years and older from 18 October 2021 to 19 November 2021.
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