Introduction Loss-of-function mutations in the IL36RN gene define a novel recessively inherited autoinflammatory syndrome named deficiency of IL-36 receptor antagonist (DITRA). This genetically determined deficiency was first described in a subgroup of patients with generalized pustular psoriasis. It is a life-threatening condition characterized by recurrent episodes of severe skin inflammation...

Introduction Young women with autoinflammatory diseases on long term IL-1 blockade are increasingly asking about the feasibility, safety and outcomes of pregnancy but few data are available. The FDA classes anakinra as pregnancy risk grade B and rilonacept and canakinumab as grade C. The manufacturers advise that there are no data on the outcome of pregnancy or on excretion into breast milk and...

Introduction PFAPA syndrome is characterized by recurrent fever with aphtosis, pharyngitis and cervical adenitis. It is suspected to be an auto-inflammatory disease (AID). For some AID, a monogenic origin has been established in the past years. In PFAPA no clear aetiology has been found yet. However in some patients variants in the NLRP3 gene can be found. The variant Q703K was described so far...

We investigate the possibility of constructing a fully compositional concurrent process algebra (dubbed Communicating Visibly pushdown Processes or CVP for short) based on visibly pushdown automata. CVP is a superset of CSP, thus combining all the good properties of finite-state algebrae with context-free features. In particular, CVP includes support for parallel composition (which has however ...

In recent years, mixture models have found widespread usage in discovering latent cluster structure from data. A popular special case of finite mixture models are naive Bayes models, where the probability of a feature vector factorizes over the features for any given component of the mixture. Despite their popularity, naive Bayes models suffer from two important restrictions: first, they do not...

Methods After detailed clinical characterization including funduscopy and optic coherence tomography, exome sequencing analysis was performed in a proband of Dutch origin with non-syndromic autosomal recessive RP. Identified mutations were tested for segregation within the family and in a large cohort of genetically unsolved RP patients. Upon identification of mutations in MVK, encoding mevalon...

The influence of surface charge of nanomaterials on toxicological effects is not yet fully understood. We investigated the inflammatory response, the acute phase response and the genotoxic effect of two different titanium dioxide nanoparticles (TiO2 NPs) following a single intratracheal instillation. NRCWE-001 was unmodified rutile TiO2 with endogenous negative surface charge, whereas NRCWE-002...

Department of Biochemistry and Biotechnology, Faculty of Science, Annamalai University, Annamalainagar 608 002, Tamilnadu, India