Inherited determinants of Crohn's disease and ulcerative colitis phenotypes: a genetic association study

Crohn's disease and ulcerative colitis are the two major forms of inflammatory bowel disease; treatment strategies have historically been determined by this binary categorisation. Genetic studies have identified 163 susceptibility loci for inflammatory bowel disease, mostly shared between Crohn's disease and ulcerative colitis. We undertook the largest genotype association study, to date, in widely used clinical subphenotypes of inflammatory bowel disease with the goal of further understanding the biological relations between diseases

Eruptive large melanocytic nevus in a patient with hereditary epidermolysis bullosa simplex

Hereditary epidermolysis bullosa (HEB) is a group of genetically determined mechanobullous disorders characterized by blister formation following minor trauma. Unusual melanocytic lesions may be a rare feature of all major categories of HEB. We report a large melanocytic nevus, clinically simulating malignant melanoma, which developed at a site of healing blisters in an 8-year-old male with recessive generalized epidermolysis bullosa simplex (EBS). Histological findings were consistent with a compound nevus. This is the third reported case of an eruptive melanocytic nevus developing in EBS. Due to their unique features, it has been suggested that these nevi may represent a distinct variant, referred to as epidermolysis bullosa nevi. Despite the atypical picture, no malignant transformation of HEB nevi has been seen. Therefore, after histologic verification, regular long-term follow-up rather than radical surgery is recommended. Copyright (C) 2003 S. Karger AG, Basel

T cell and monocyte/macrophage activation markers associate with adverse outcome, but give limited prognostic value in anemic patients with heart failure: results from RED-HF

BackgroundActivated leukocytes may contribute to the development and progression of heart failure (HF). We investigated the predictive value of circulating levels of stable and readily detectable markers reflecting both monocyte/macrophage and T-cell activity, on clinical outcomes in HF patients with reduced ejection fraction (HFrEF).MethodsThe association between baseline plasma levels of soluble CD163 (sCD163), macrophage migration inhibitory factor (MIF), granulysin, soluble interleukin-2 receptor (sIL-2R), and activated leukocyte cell adhesion molecule (ALCAM) and the primary endpoint of death from any cause or first hospitalization for worsening of HF was evaluated using multivariable Cox proportional hazard models in 1541 patients with systolic HF and mild to moderate anemia, enrolled in the Reduction of Events by darbepoetin alfa in Heart Failure (RED-HF) trial. Modifying effects and interaction with darbepoetin alfa treatment were also assessed.ResultsAll leukocyte markers, except granulysin, were associated with the primary outcome and all-cause death in univariate analysis (all