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 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...

Nanoindentation measurements in single crystals of carbamazepine form III show that the (020) face is stiffer and harder than (002) (101) faces. AFM imaging molecular simulations reveal plane most likely slip plane.

Background: Recent evidence shows that epileptiform activity (EA) in sleep can present early Alzheimer’s Disease (AD) with faster cognitive decline. Existing literature examining sleep, AD and seizures is mostly qualitative. We conducted a systematic review to quantify the stage most associated EA amnestic mild impairment (aMCI)Methods: searched MEDLINE Embase using MeSH terms: “Alzheimer’s Dis...