We performed MBL2 genotyping in 47 CF patients-cared of at the regional CF Centre of Trieste-trying to establish a correlation within allelic variants of MBL2 and modification of patients' clinical outcome. FEV1 values were significantly lowered and a significantly earlier age at onset of Pseudomonas aeruginosa colonisation was found in CF patients with at least one MBL2 variant.
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http://dx.doi.org/10.1016/j.jcf.2005.04.001 | DOI Listing |
Clin Chim Acta
January 2025
Department of Clinical and Toxicological Analyses, School of Pharmaceutical Sciences, University of Sao Paulo, Sao Paulo 05508-000 Brazil. Electronic address:
Background And Aims: Familial Hypercholesterolemia (FH) is a monogenic disease that leads to early-onset atherosclerosis. Causative mutations in FH-related genes are found in 60-80 % of patients, while epigenetic factors may contribute to mutation-negative cases. This study analyzed miRNAs and proteins from plasma-derived extracellular vesicles (EVs) of FH patients to explore their contribution in FH diagnosis.
View Article and Find Full Text PDFSci Rep
January 2025
Postgraduate Program in Sciences Applied to Hematology, State University of Amazonas, Av. Djalma Batista, 3578-Flores, Manaus, AM, Brazil.
Polymorphisms in the MBL2 gene exon 1 can decrease serum levels of mannose-binding lectin (MBL), increasing the risk of infection in immunocompromised individuals. This study evaluated the association between the polymorphism in exon 1 of the MBL2 gene, genotypes, serum MBL levels, and infection in 122 patients with acute lymphoid leukemia (ALL). The MBL*A allele exhibited the highest frequency (0.
View Article and Find Full Text PDFJAMA Cardiol
December 2024
Metabolism Unit, Massachusetts General Hospital, Harvard Medical School, Boston.
Objective: Reliable, circulating biomarkers for Duchenne, Becker and facioscapulohumeral muscular dystrophies (DBMD and FSHD) remain unvalidated. Here, we investigated the plasma extracellular vesicle (EV) proteome to identify disease-specific biomarkers that could accelerate therapy approvals.
Methods: We extracted EVs from the plasma of DBMD and FSHD patients and healthy controls using size-exclusion chromatography, conducted mass spectrometry on the extracted EV proteins, and performed comparative analysis to identify disease-specific biomarkers.
Int J Mol Sci
November 2024
Department of Toxicology "Akademik Danilo Soldatović", Faculty of Pharmacy, University of Belgrade, Vojvode Stepe 450, 11221 Belgrade, Serbia.
This study aimed to explore the health impacts, mechanisms of toxicity, and key gene biomarkers of a mixture of the most prominent perfluoroalkyl/polyfluoroalkyl substances (PFAS) through in silico ADMET and toxicogenomic analysis. The following databases and tools were used: AdmetSAR (2.0), ADMETlab (2.
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