Risk factors associated with myasthenia gravis in thymoma patients: The potential role of thymic germinal centers

International audienceThymomas are associated with a very high risk of developing Myasthenia Gravis (MG). Our objectives were to identify histological and biological parameters to allow early diagnosis of thymoma patients susceptible to developing MG. We conducted a detailed retrospective analysis from a patient database, searching for differences between patients with thymoma-associated MG (MGT, n = 409) and thymoma without MG (TOMA, n = 111) in comparison with nonthymomatous MG patients (MG, n = 1246). We also performed multiplex and single molecule arrays to measure the serum levels of cytokines in these groups of patients and controls (n = 14-22). We identified a set of parameters associated with MG development in thymoma patients: 1) detection of anti-acetylcholine receptor (AChR) antibodies, 2) development of B1 or B2 thymoma subtypes, 3) presence of ectopic thymic germinal centers (GCs), 4) local invasiveness of thymoma, and 5) being a woman under 50 years old. Among these parameters, 58.8% of MGT patients displayed GCs with a positive correlation between the number of GCs and anti-AChR titers. By immunohistochemistry, we found thymic GCs in the adjacent tissues of thymomas encircled by high endothelial venules (HEVs) that could favor peripheral cell recruitment. We also clearly associated MG symptoms with higher IFN-γ, IL-1β and sCD40L serum levels, specifically in MGT patients compared to TOMA patients. Altogether, these analyses allowed the clear identification of histological, in particular the presence of GCs, and biological parameters that would facilitate the evaluation of the probability of the MG outcome postoperatively in thymoma patients

Characteristics of Patients with Late-Onset Pompe Disease in France: Insights from the French Pompe Registry in 2022

International audienceBackground and ObjectivesThe French Pompe disease registry was created in 2004 for study of the natural course of the disease in patients. It rapidly became a major tool for assessing the long-term efficacy of enzyme replacement therapy (ERT) after the market release of alglucosidase-alfa.MethodsApproximately 10 years after publication of the baseline characteristics of the 126 initial patients of the French Late-Onset Pompe Disease registry, we provide here an update of the clinical and biological features of patients included in this registry.ResultsWe describe 210 patients followed at 31 hospital-based French neuromuscular or metabolic centers. The median age at inclusion was 48.67 ± 14.91 years. The first symptom was progressive lower limb muscle weakness, either isolated (50%) or associated with respiratory symptoms (18%), at a median age of 38 ± 14.9 years. At inclusion, 64% of the patients were able to walk independently and 14% needed a wheelchair. Positive associations were found between motor function measure, manual motor test, and 6-minute walk test (6MWT) results, and these parameters were inversely associated with the time taken to sit up from a lying position at inclusion. Seventy-two patients had been followed for at least 10 years in the registry. Thirty-three patients remained untreated a median of 12 years after symptom onset. The standard ERT dose was administered for 177 patients.DiscussionThis update confirms previous findings for the adult population included in the French Pompe disease registry, but with a lower clinical severity at inclusion, suggesting that this rare disease is now diagnosed earlier; thanks to greater awareness among physicians. The 6MWT remains an important method for assessing motor performance and walking ability. The French Pompe disease registry provides an exhaustive, nationwide overview of Pompe disease and can be used to assess individual and global responses to future treatments

Evolution of traditional agroforestry landscapes and development of invasive species: lessons from the Pyrenees (France)

International audienceThe term agroforestry covers practices that are promoted to maintain or even enhance biodiversity. However, the relationship between agroforestry and invasive species is rarely addressed, even though the spread of such species is an important issue, not only ecologically but also economically and socially. Over the past few decades, humans have greatly accelerated the process of biological invasions, to such an extent that they are now recognized as the second cause of rapid decline in biodiversity. In France (as in other parts in Europe) abandonment of agricultural land in remote areas is a major problem having socio-economic, landscape and environmental implications. The objective of the research presented here was to find a method for studying the relationship between traditional agroforestry systems and invasive species, despite a lack of available data. We investigated the evolution of a traditional agroforestry system in the Pyrenean foothills, where invasive species are abundant, by implementing two complementary methods: i/ interviews highlighting the local stakeholders’ perception of landscape evolution, invasive species and the challenges they represent for the local traditional agroforestry landscapes, and ii/ detailed mapping of an area occupied by invasive plants, by means of very high resolution spatial technologies using UAV’s and aerial photography. The results show that invasive species have spread in relation with the abandonment of agricultural land, which has also led to “landscape closure” by the encroachment of natural afforestation. They also underline the difficulty of assessing the spread of invasive species. This situation is of major importance in terms of land-use planning, as the various stakeholders have different perceptions of the problem, and it raises questions about the sustainability of practices and territories