Predictors of remission and relapse in retroperitoneal fibrosis.

Objectives: In retroperitoneal fibrosis (RPF), glucocorticoids (GC), alone or in combination with immunosuppressive agents, induce remission in 80%-90% of patients but up to two thirds of them relapse. There is limited knowledge on outcome predictors in RPF. We aimed to identify clinical, laboratory and imaging predictors of remission and relapse in RPF.

Cluster analysis reveals the clinical spectrum of Erdheim-Chester disease.

Erdheim-Chester disease (ECD) is a clonal-inflammatory neoplasm driven by mutations in MAPK pathway proto-oncogenes, such as BRAF. Clinical manifestations are protean, affecting virtually every system. This cohort study analyzed 661 patients with ECD to classify them based on clinical features and mutational profiles using unsupervised clustering.

Ontology-based integration and querying of heterogeneous rare disease data sources - POLVAS perspective.

The integration of rare disease medical databases belonging to different countries is an important problem, as a large number of observations are required for reliable statistical inference of patient data in order to facilitate clinical research. Such integration of national registry data, which requires harmonization of the heterogeneous data sets into a unified view, is facilitated in the European FAIRVASC project by developing a domain-specific ontology. The FAIRVASC project is dedicated to the rare disease of anti-neutrophil cytoplasmic antibody (ANCA) associated vasculitis (AAV).

Data-driven subclassification of ANCA-associated vasculitis: model-based clustering of a federated international cohort.

Background: Antineutrophil cytoplasmic antibody (ANCA)-associated vasculitis is a heterogenous autoimmune disease. While traditionally stratified into two conditions, granulomatosis with polyangiitis (GPA) and microscopic polyangiitis (MPA), the subclassification of ANCA-associated vasculitis is subject to continued debate. Here we aim to identify phenotypically distinct subgroups and develop a data-driven subclassification of ANCA-associated vasculitis, using a large real-world dataset.

Genetics of ANCA-associated vasculitis: role in pathogenesis, classification and management.

Anti-neutrophil cytoplasmic antibody (ANCA)-associated vasculitis (AAV) comprises granulomatosis with polyangiitis (GPA), microscopic polyangiitis (MPA) and eosinophilic granulomatosis with polyangiitis (EGPA), that share features of pauci-immune small-vessel vasculitis and the positivity of ANCA targeting proteinase-3 (PR3-ANCA) or myeloperoxidase (MPO-ANCA). AAV syndromes are rare, complex diseases and their aetio-pathogenesis is mainly driven by the interaction between environmental and genetic factors. In patients with GPA and MPA, the genetic associations are stronger with ANCA specificity (PR3- versus MPO-ANCA) than with the clinical diagnosis, which, in keeping with the known clinical and prognostic differences between PR3-ANCA-positive and MPO-ANCA-positive patients, supports an ANCA-based re-classification of these disorders.

Genome-scale metabolic reconstruction of the symbiosis between a leguminous plant and a nitrogen-fixing bacterium.

The mutualistic association between leguminous plants and endosymbiotic rhizobial bacteria is a paradigmatic example of a symbiosis driven by metabolic exchanges. Here, we report the reconstruction and modelling of a genome-scale metabolic network of Medicago truncatula (plant) nodulated by Sinorhizobium meliloti (bacterium). The reconstructed nodule tissue contains five spatially distinct developmental zones and encompasses the metabolism of both the plant and the bacterium.