A strange Evans syndrome: a case report

Hepatic angiosarcoma is a rare malignant vascular tumor, which accounts for up to 2% of all primary liver tumors. The most frequent symptoms on presentation are weight loss, weakness and abdominal pain. Diagnosis of diffuse hepatic angiosarcoma can be challenging. We report an original case of diffuse liver angiosarcoma revealed by haematological abnormalities initially diagnosed as an Evans syndrome. Anaemia and thrombocytopenia are rarely the first manifestations of this pathology. They are explained by combination of several mechanisms. Diagnosis of diffuse liver angiosarcoma can be extremely difficult and physicians should be aware of these presentation

LE LYMPHANGIOME KYSTIQUE RETROPERITONEAL CHEZ L'ADULTE

LYON1-BU Santé (693882101) / SudocPARIS-BIUM (751062103) / SudocSudocFranceF

Polychondrite atrophiante et syndromes myélodysplasiques (trois nouvelles observations et revue de la littérature)

DIJON-BU Médecine Pharmacie (212312103) / SudocPARIS-BIUM (751062103) / SudocSudocFranceF

Semantic Enrichment of 3D Models Based on Ontology Integration

International audienceAbstract The rise of new technologies has led to a growth in the number of 3D models. They can come from various source, hence they are heterogeneous and complex. The level of 3D data access is often a function of the user’s expertise since the 3D data are often registered to different file formats. Some file formats do not show the data tree, as IGES. For using information inside a 3D model, that does not show a data tree, each company adopts his own system that will allow him to access easily to 3D model in order to exploit the hidden knowledge within the models. In this article, we are going to speak about technologies that helps user to exploit and knowledge coming from different file formats. In addition, we are going to present a system named VAQUERO that uses ontology to access, store and share knowledge coming from 3D models

Mécanisme de requête pour la navigation des données d'ingénierie 3D en contexte PLM

International audienceCITATIONS 0 READS 15 3 authors: Some of the authors of this publication are also working on these related projects: Filière Outillage View project Gestion de données et dynamique des connaissances en ingénierie numérique View project Résumé-L'essor des nouvelles technologies a permis une croissance du nombre de données. Plus les données sont volumineuses plus la quantité d'interrelations entre les données augmentent. Ces données peuvent provenir des sources diverses d'où leur hétérogénéité et leur complexité. L'augmentation de la complexité et les besoins d'ingénierie collaboratves font qu'un projet demande la participation et la collaboration d'acteurs qui viennent de domaines différents. Le niveau d'accès aux données est souvent fonction de l'expertise de l'utilisateur, car c'est une tâche qui n'est pas facile. L'accès aux données est le processus d'extraction des informations d'une base de données en utilisant des requêtes. Dans cet article nous parlerons des techniques permettant d'accéder aux données d'ingénierie en vue de les exploiter pour des besoins futurs

Mécanisme de requête pour la navigation des données d'ingénierie 3D en contexte PLM

International audienceCITATIONS 0 READS 15 3 authors: Some of the authors of this publication are also working on these related projects: Filière Outillage View project Gestion de données et dynamique des connaissances en ingénierie numérique View project Résumé-L'essor des nouvelles technologies a permis une croissance du nombre de données. Plus les données sont volumineuses plus la quantité d'interrelations entre les données augmentent. Ces données peuvent provenir des sources diverses d'où leur hétérogénéité et leur complexité. L'augmentation de la complexité et les besoins d'ingénierie collaboratves font qu'un projet demande la participation et la collaboration d'acteurs qui viennent de domaines différents. Le niveau d'accès aux données est souvent fonction de l'expertise de l'utilisateur, car c'est une tâche qui n'est pas facile. L'accès aux données est le processus d'extraction des informations d'une base de données en utilisant des requêtes. Dans cet article nous parlerons des techniques permettant d'accéder aux données d'ingénierie en vue de les exploiter pour des besoins futurs

The Scedosporium apiospermum species complex: seroprevalence in patients with cystic fibrosis and clinical relevance

International audienceSpecies of the Scedosporium apiospermum complex are emerging fungal pathogens widely recognized now as causing chronic colonization of the airways in patients with cystic fibrosis (CF). Some recent studies performed in Canada 1 and France 2 suggested that the chronic colonization of the airways by another fungal pathogen, Aspergillus fumigatus, may contribute to the progressive deterioration of the lung function observed in some patients. We studied retrospectively the seroprevalence of the S. apiospermum species complex, as a marker of close contact between patient and the fungi, in a large monocentric cohort of CF patients attended in the reference centre in Lyon, France, and evaluated the clinical parameters associated with seropositivity.RESULTS:Serum samples from 373 CF patients were analysed. Serum antibodies against the S. apiospermum species complex were detected in 35 patients (9.4% of studied population). In multivariate analysis, seropositivity to the S. apiospermum species complex was associated only with seropositivity to A. fumigatus.CONCLUSIONS:This study does not suggest an association between sensitization against the S. apiospermum species complex and poorer lung function in patients with CF. Nevertheless, prospective studies are needed to evaluate more precisely the impact of both seropositivity to this species complex and its impact on the airway colonization by these fungi and on evolution of the lung function in patients with CF and the course of the disease.</p

Iron Deficiency in Cystic Fibrosis: A Cross-Sectional Single-Centre Study in a Referral Adult Centre

Iron deficiency (ID) diagnosis in cystic fibrosis (CF) is challenging because of frequent systemic inflammation. We aimed to determine the prevalence and risk factors of ID in adult patients with CF. We conducted a single-centre prospective study in a referral centre. ID was defined by transferrin saturation ≤16% or ferritin ≤20 (women) or 30 (men) μg/L, or ≤100 μg/L in the case of systemic inflammation. Apparent exacerbation was an exclusion criterion. We included 165 patients (78 women), mean age—31.1 ± 8.9 years. ID prevalence was 44.2%. ID was significantly associated with female gender (58.9% vs. 38%), lower age (29.4 ± 8.5 vs. 32.5 ± 9.1), lower body mass index (20.5 ± 2.2 vs. 21.3 ± 2.5), and Pseudomonas aeruginosa colonization (70.8% vs. 55.1%). Diabetes mellitus, antiacid drug use and low pulmonary function were more frequent in patients with ID with no statistical significance. The use of CFTR correctors was not associated with ID. In the multivariate analysis, ID was associated with female gender (OR 2.64, CI95% 1.31–5.31), age P. aeruginosa (OR 2.09, CI95% 1.04–4.19)

A New Pathogenic Missense Variant in a Consanguineous North-African Family Responsible for a Highly Variable Aceruloplasminemia Phenotype: A Case-Report

International audienceAceruloplasminemia is a rare autosomal recessive inherited disorder. Mutations in the ceruloplasmin gene cause depressed ferroxidase activity leading to iron accumulation. The clinical phenotype is highly variable: anemia, retinopathy, diabetes mellitus, psychiatric disorders, and neurological symptoms including parkinsonian disorders and dementia are the main features of this disease. Characterized by high serum ferritin with low transferrin saturation, aceruloplasminemia uniquely combines brain, liver and systemic iron overload. We report here four new cases of aceruloplasminemia in a consanguineous North-African family. Genetic sequencing revealed a homozygous missense variant c.656T&gt;A in exon 4 of the ceruloplasmin gene, which had been described previously as of &quot;unknown significance&quot; in the dbSNP database and never associated with ACP in the HGMD database. Ferroxidase activity was strongly depressed. Clinical manifestations varied among cases. The proband exhibited mild microcytic anemia, diabetes mellitus, psychosis and parkinsonism, whereas the other cases were asymptomatic or mildly anemic, although high serum ferritin and brain iron deposition were documented in all of them. Therapeutic management was complex. The proband started deferoxamine treatment when already symptomatic and he rapidly declined. In the asymptomatic cases, the treatment was associated with poor tolerance and was discontinued due to anemia requiring red blood cell transfusion. Our series illustrates the need for new therapeutic approaches to aceruloplasminemia

The clinical phenotype associated with myositis-specific and associated autoantibodies: a meta-analysis revisiting the so-called antisynthetase syndrome

International audienceObjective: To describe the clinical spectrum associated with aminoacyl-transfer RNA synthetase (ARS) autoantibodies in patients with idiopathic inflammatory myositis defined according to Peter and Bohan's criteria. Methods: Cohort studies were selected from MEDLINE and Embase up to August 2013. Two investigators independently extracted data on study design, patient characteristics, and clinical features (interstitial lung disease [ILD], fever, mechanic's hands [MH], Raynaud's phenomenon [RPh], arthralgia, sclerodactyly, cancer and dermatomyositis-specific rash) according to the presence of myositis-specific (anti-aminoacyl-transfer RNA synthetase [ARS], anti-signal recognition particle [anti-SRP] and anti-Mi2) and myositis-associated (anti-PM/Scl, anti-U1-RNP and anti-Ku) autoantibodies. Results: 27 studies (3487 patients) were included in the meta-analysis. Arthralgia (75%, CI 67-81) and IW (69%, CI 63-74) were the most prevalent clinical signs associated with anti-ARS autoantibodies. Anti-Mi2 and anti-SRP autoantibodies were associated with few extramuscular signs. ARS autoantibodies were identified in 13% of patients with cancer-associated myositis (5-25). Patients with non-anti-Jo1 ARS had greater odds of presenting fever (RR 0.63, CI 0.52-0.90) and ILD (RR 0.87, CI 0.81-0.93) compared to those with anti-Jol autoantibodies. The frequencies of myositis (RR 1.60, CI 1.38-1.85), arthralgia (RR 1.52, CI 1.32-1.76) and MH (RR 1.47, CI 1.11-1.94) were almost 50% higher in patients with anti-Jo1 compared to non-anti-Jo1 ARS autoantibodies. Patients with anti-PM/Scl differed from those with anti-ARS autoantibodies by a greater prevalence of RPh (RR 0.70, CI 0.53-0.94) and sclerodactyly (RR 0.47, Cl 025-0.89). IID was less frequent in patients with anti-Ul-RNP autoantibodies (RR 3.35, CI 1.07-10.43). No difference was observed between anti-ARS and myositis-associated autoantibodies for other outcomes. Conclusions: The presence of anti-ARS autoantibodies delimits a heterogeneous subset of patients with a high prevalence of myositis, MH, arthralgia in anti-Jo1 patients, and RPh and fever in non-anti-Jo1 patients. The clinical signs of populations positive for anti-PM/Scl and anti-ARS autoantibodies largely overlap, especially with regard to ILD, challenging the clinical delimitation of the antisynthetase syndrome