Publications by authors named "E Vignot"
This study explores FD/MAS patient's perceptions about their disease and its impact on their quality of life. We have evaluated quality of life (QoL) in French Fibrous Dysplasia/MacCune-Albright Syndrome (FD/MAS) patients using a qualitative approach with focus groups to explore perceptions, symptoms and limitations associated with FD/MAS and a quantitative method with the Short Form-36 (SF36) to quantify QoL. Focus groups revealed the heterogeneity of FD forms and allowed for understanding the reasons of reduced QoL.
View Article and Find Full Text PDFImmune recovery uveitis in Whipple's disease: an unusual ocular presentation.
J Ophthalmic Inflamm Infect
February 2024
Purpose: To describe an unusual case of Whipple's disease (WD) complicated by uveitis, and subsequent paradoxical worsening after effective antibiotic treatment targeting Tropheryma whipplei (TW).
Methods: Case report.
Results: A 53-year-old male presented with bilateral knee arthritis, weight loss, chronic low-grade fever, and cognitive disorders.
Article Synopsis
- X-linked hypophosphatemia (XLH) is a rare, disabling disease that requires a coordinated approach from various healthcare specialists due to the diverse needs of patients and caregivers.
- To better understand these needs, focus groups were organized with XLH children, adults, and caregivers, guided by trained professionals, to discuss their daily experiences and quality of life.
- The findings highlighted key areas of need such as knowledge about XLH, treatment options, dental care, and adapted physical activities, which were used to develop educational sessions and a therapeutic education program tailored to XLH patients and their caregivers.
Context: X-linked hypophosphatemia (XLH) is a rare genetic disorder that results in increased plasma levels of fibroblast growth factor 23 (FGF23). Several studies have demonstrated a direct association between FGF23 and cardiovascular mortality in cohorts of patients with chronic renal failure. However, in patients with XLH, studies on the cardiovascular impact of the disease are rare, with contradictory results.
View Article and Find Full Text PDFAs epigenetic regulators of gene expression, circulating micro-RiboNucleic Acids (miRNAs) have been described in several bone diseases as potential prognostic markers. The aim of our study was to identify circulating miRNAs potentially associated with the severity of osteogenesis imperfecta (OI) in three steps. We have screened by RNA sequencing for the miRNAs that were differentially expressed in sera of a small group of OI patients versus controls and then conducted a validation phase by RT-qPCR analysis of sera of a larger patient population.
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