Next generation phenotyping in Emanuel and Pallister-Killian syndrome using computer-aided facial dysmorphology analysis of 2D photos.

High throughput approaches are continuously progressing and have become a major part of clinical diagnostics. Still, the critical process of detailed phenotyping and gathering clinical information has not changed much in the last decades. Forms of next generation phenotyping (NGP) are needed to increase further the value of any kind of genetic approaches, including timely consideration of (molecular) cytogenetics during the diagnostic quest.

A role for the transcription factor Helios in human CD4(+)CD25(+) regulatory T cells.

Relative upregulation of the Ikaros family transcription factor Helios in natural regulatory T cells (Tregs) has been reported by several groups. However, a role for Helios in regulatory T cells has not yet been described. Here, we show that Helios is upregulated in CD4(+)CD25(+) regulatory T cells.

Tc17 CD8 T cells: functional plasticity and subset diversity.

IL-17-secreting CD8 T cells (Tc17) have been described in several settings, but little is known regarding their functional characteristics. While Tc1 cells produced IFN-gamma and efficiently killed targets, Tc17 cells lacked lytic function in vitro. Interestingly, the small numbers of IFN-gamma-positive or IL-17/IFN-gamma-double-positive cells generated under Tc17 conditions also lacked lytic activity and expressed a similar pattern of cell surface proteins to IL-17-producing cells.

Functionally distinct LAG-3 and PD-1 subsets on activated and chronically stimulated CD8 T cells.

Lymphocyte Activation Gene-3 (LAG-3) is a transmembrane protein that binds MHC class II, enhances regulatory T cell activity, and negatively regulates cellular proliferation, activation, and homeostasis of T cells. Programmed Death 1 (PD-1) also negatively regulates T cell function. LAG-3 and PD-1 are both transiently expressed on CD8 T cells that have been stimulated during acute activation.

Rescue me: saving the vulnerable non-ICU patient population.

Background: From 2003-2005, a comprehensive review of all cardiac/respiratory arrests at Mission Hospital (Mission Viejo, California) uncovered deficits in knowledge and judgment in the hours preceding 75% of our non-ICU patients. Nearly half of all arrests were occurring outside the ICU, with an overall mortality rate of 60%. In addition, transfers into ICU from the floor averaged 96 patients per month.