From science to practice: Bringing innovations to agronomy and forestry

The challenge of the work presented here is to make innovative research output in the agronomy and forestry domain accessible to end-users, so that it can be practically applied. We have developed an approach that consists of three key-elements: an ontology with domain knowledge, a set of documents that have been annotated and meta-annotated, and a system (ask-Valerie) that is based on a dialogue to represent the interaction between end user and system.<br/> We show that the dialogue-metaphor is a good way of modelling the interaction between user and system. The system helps the user in formulating his question and in answering it in a useful way. Meta-annotations of key-paragraphs in the document-base turn out to be relevant in assessing in one glance what the content of a document is. <br/> End-users are very enthusiastic about the possibilities that ask-Valerie offers them in translating scientific results to their own situation

Clinical and Molecular Spectrum of Nonsyndromic Early-Onset Osteoarthritis

International audienceObjective: Osteoarthritis (OA) is the most common joint disease worldwide. The etiology of OA is varied, ranging from multifactorial to environmental to monogenic. In a condition called early-onset OA, OA occurs at an earlier age than is typical in the general population. To our knowledge, there have been no large-scale genetic studies of individuals with early-onset OA. The present study was undertaken to investigate causes of monogenic OA in individuals with nonsyndromic early-onset OA. Methods: The study probands were 45 patients with nonsyndromic early-onset OA who were referred to our skeletal disease center by skeletal dysplasia experts between 2013 and 2019. Criteria for early-onset OA included radiographic evidence, body mass index ≤30 kg/m2, age at onset ≤50 years, and involvement of ≥1 joint site. Molecular analysis was performed with a next-generation sequencing panel. Results: We identified a genetic variant in 13 probands (29%); the affected gene was COL2A1 in 11, ACAN in 1, and SLC26A2 in 1. After familial segregation analysis, 20 additional individuals were identified. The mean ± SD age at onset of joint pain was 19.5 ± 3.9 years (95% confidence interval 3–47). Eighteen of 33 subjects (55%) with nonsyndromic early-onset OA and a genetic variant had had at least 1 joint replacement (mean ± SD age at first joint replacement 41 ± 4.2 years; mean number of joint replacements 2.6 per individual), and 21 (45%) of the joint replacement surgeries were performed when the patient was andlt;45 years old. Of the 20 patients age andgt;40 years, 17 (85%) had had at least 1 joint replacement. Conclusion: We confirmed that COL2A1 is the main monogenic cause of nonsyndromic early-onset OA. However, on the basis of genetic heterogeneity of early-onset OA, we recommend next-generation sequencing for all individuals who undergo joint replacement prior to the age of 45 years. Lifestyle recommendations for prevention should be implemented

Mutations in SMAD3 cause a syndromic form of aortic aneurysms and dissections with early-onset osteoarthritis

Thoracic aortic aneurysms and dissections are a main feature of connective tissue disorders, such as Marfan syndrome and Loeys-Dietz syndrome. We delineated a new syndrome presenting with aneurysms, dissections and tortuosity throughout the arterial tree in association with mild craniofacial features and skeletal and cutaneous anomalies. In contrast with other aneurysm syndromes, most of these affected individuals presented with early-onset osteoarthritis. We mapped the genetic locus to chromosome 15q22.2-24.2 and show that the disease is caused by mutations in SMAD3. This gene encodes a member of the TGF-beta pathway that is essential for TGF-beta signal transmission(1-3). SMAD3 mutations lead to increased aortic expression of several key players in the TGF-beta pathway, including SMAD3. Molecular diagnosis will allow early and reliable identification of cases and relatives at risk for major cardiovascular complications. Our findings endorse the TGF-beta pathway as the primary pharmacological target for the development of new treatments for aortic aneurysms and osteoarthritis