Phenotypic spectrum of the first Belgian founder: a large multi-exon deletion with a varying phenotype.

Background: Variants in the gene are a frequent cause of hypertrophic cardiomyopathy (HCM) but display a large phenotypic heterogeneity. Founder mutations are often believed to be more benign as they prevailed despite potential negative selection pressure. We detected a pathogenic variant in (del exon 23-26) in several probands.

Keratinocytes activated by IL-4/IL-13 express IL-2Rγ with consequences on epidermal barrier function.

Atopic dermatitis (AD) is a Th2-type inflammatory disease characterized by an alteration of epidermal barrier following the release of IL-4 and IL-13. These cytokines activate type II IL-4Rα/IL-13Rα1 receptors in the keratinocyte. Whilst IL-2Rγ, that forms type I receptor for IL-4, is only expressed in haematopoietic cells, recent studies suggest its induction in keratinocytes, which questions about its role.

Deletion of Gene in Human Keratinocytes Demonstrates a Role for TSG-6 to Retain Hyaluronan Inside Epidermis.

TSG-6 is a soluble protein secreted in the extracellular matrix by various cell types in response to inflammatory stimuli. TSG-6 interacts with extracellular matrix molecules, particularly hyaluronan (HA), and promotes cutaneous wound closure in mice. Between epidermal cells, the discrete extracellular matrix contains HA and a tiny amount of TSG-6.

Impending paradoxical embolism: about two cases. 3D echocardiographic imaging and discussion of treatment options.

Introduction: Impending paradoxical embolism (IPDE) is a rare condition where a thrombus straddles the foramen ovale with a high risk of arterial embolism.

Cases Report: We report two cases of impending paradoxical embolism, an uncommon condition with a high mortality rate. The first in a young woman with acute right heart failure operated emergently, the second, in an old and frail lady presenting an ischemia of the left arm, treated by anticoagulants.