Publications by authors named "V Bertini"
: Dominant mutations in are known to cause vascular Ehlers-Danlos syndrome (vEDS) by impairing extracellular matrix (ECM) homeostasis. This disruption leads to the fragility of soft connective tissues and a significantly increased risk of life-threatening arterial and organ ruptures. Currently, treatments for vEDS are primarily symptomatic, largely due to a limited understanding of its underlying pathobiology and molecular mechanisms.
View Article and Find Full Text PDFDiagnosing hypermobile Ehlers-Danlos syndrome (hEDS) and hypermobility spectrum disorders (HSD), common overlapping multisystemic conditions featuring symptomatic joint hypermobility, is challenging due to lack of established causes and diagnostic tools. Currently, the 2017 diagnostic criteria for hEDS are used, with non-qualifying cases classified as HSD, although the distinction remains debated. We previously showed extracellular matrix (ECM) disorganization in both hEDS and HSD dermal fibroblasts involving fibronectin (FN), type I collagen (COLLI), and tenascin (TN), with matrix metalloproteinase-generated fragments in conditioned media.
View Article and Find Full Text PDFArticle Synopsis
- This study examines how the TAS2R38 gene, linked to bitter taste perception, affects nasal nitric oxide (nNO) levels and respiratory infections in patients with primary ciliary dyskinesia (PCD).
- Researchers tracked 119 PCD patients over 10 years, comparing different TAS2R38 haplotypes and their correlation with nNO and lung function outcomes.
- Findings indicate that the PAV/PAV haplotype leads to higher nNO levels and better lung function in those with certain PCD mutations, suggesting TAS2R38 may influence the severity of mild PCD and guide future treatment strategies.
Background: International guidelines disagree on how best to diagnose primary ciliary dyskinesia (PCD), not least because many tests rely on pattern recognition. We hypothesized that quantitative distribution of ciliary ultrastructural and motion abnormalities would detect most frequent PCD-causing groups of genes by soft computing analysis.
Methods: Archived data on transmission electron microscopy and high-speed video analysis from 212 PCD patients were re-examined to quantitate distribution of ultrastructural (10 parameters) and functional ciliary features (4 beat pattern and 2 frequency parameters).