Publications by authors named "Emmanuelle Vignot"
Immune 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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- Still's disease (SD) is an autoinflammatory condition with varying forms, and this study aimed to compare adult-onset SD (AOSD) and systemic juvenile idiopathic arthritis (sJIA) while identifying prognosis.
- Researchers analyzed data from 238 patients, finding that 64% had AOSD, with symptoms like sore throat and muscle pain being more common in this group, as well as higher levels of liver enzymes and inflammatory markers.
- Key findings indicated that symptoms like fever and skin rash are linked to better recovery chances, while high lactate dehydrogenase levels suggest a poorer prognosis, supporting the idea that SD can evolve into chronic arthritis if not treated promptly.
Background: Poor medication adherence is a serious barrier to successful chronic disease management. Previous reviews reported that low health literacy could be associated with medication non-adherence but conclusions were uncertain.
Aim: The aim of this systematic review was to clarify the relationship between health literacy and medication adherence in adults with chronic diseases.
Article Synopsis
- X-linked hypophosphatemia (XLH) is a rare genetic disorder linked to high levels of fibroblast growth factor 23 (FGF23), which may affect inflammation and bone cell activity, but hasn't been thoroughly studied in this context.
- A multicenter study analyzed the expression of eight inflammatory markers in blood samples from 28 XLH patients and 19 healthy controls, finding significantly increased inflammation in XLH patients along with impaired osteoclast formation.
- The findings suggest that the unique inflammatory profile in XLH patients may contribute to associated health issues like hypertension and obesity, indicating that inflammation might exacerbate these complications.
Background: To assess current practice regarding the management of rheumatoid arthritis patients among general practitioners of a French region, and their perception about the deployment of a multidisciplinary collaboration.
Methods: A cross-sectional online survey was sent to the general practitioners of a French region. The questionnaire comprised of 3 sections to collect data regarding 1/demographics, 2/practice and knowledge in rheumatoid arthritis, and 3/perception about the deployment of a multidisciplinary collaboration.
Article Synopsis
- Distinguishing macrophage activation syndrome (MAS) from a simple flare of Still's disease (SD) is complex; researchers aimed to identify clinical features and outcomes related to MAS and its predictive factors in SD patients.
- In a study involving 206 SD patients, 20 (9.7%) experienced MAS, which presented more often with symptoms like hepatomegaly and neurological issues, alongside higher rates of cytopenias, liver problems, and abnormal coagulation.
- High serum ferritin levels, specifically above 3500 μg/L, demonstrated strong predictive value for MAS development, with specific factors like neurological symptoms and coagulopathy aiding in early detection.
Article Synopsis
- - The study aimed to evaluate the feasibility and effectiveness of pharmacist-led patient interviews upon admission to a rheumatology department, focusing on simplifying the medication reconciliation process.
- - Conducted at a French university hospital between 2015 and 2017, the study revealed that out of 247 interviews, many uncovered new medication information and identified a significant number of medication errors.
- - The results showed that these interviews effectively detected medication errors and led to necessary modifications in hospital medication orders, suggesting they could be a beneficial alternative to comprehensive medication reconciliation in certain cases.
Unlabelled: We show the value of genetic screening in 3 adults with limited phenotypes of three bone sclerosing genetic disease (GD): osteopetrosis (OPT), Camurati-Engelmann disease (CED) and pycnodysostosis.
Introduction: OPT, CED and pycnodysostosis are three rare bone diseases often diagnosed in childhood. However, some atypical phenotypes raise the problem of delayed diagnosis in adults.
Erdheim-Chester disease is a rare non-langerhans systemic histiocytosis of unknown origin, associated with bone diseases and severe visceral complications. Therapies have been disappointing. A recombinant form of interleukin-1 receptor antagonist (anakinra) has been used in a few cases when usual treatment fails.
View Article and Find Full Text PDFPorokeratoma (porokeratotic acanthoma) is a very recently described tumor-like acanthoma with features of porokeratosis (cornoid lamellation). We report herein a new case of this poorly known lesion that was studied immunohistochemically and discuss briefly its relationship with porokeratosis.
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