Evidence for low bioavailability of dietary nanoparticulate cerium in a freshwater food chain.

Radioactive Ce in ionic (I-Ce), nano (N-Ce, 11 ± 9 nm mean primary particle size ± standard deviation) and micron-sized (M-Ce, 530 ± 440 µm) forms associated with natural and artificial diets in natural river water and synthetic freshwater were used to measure the real-time biokinetics of dietary Ce assimilation in a freshwater food chain. The model food chain consisted of microalgae (Raphidocelis subcapitata), snails (Potamopyrgus antipodarum) and prawns (Macrobrachium australiense). Pulse-chase experiments showed that 91-100 % of all forms of cerium associated with all diets and water types were eliminated from the digestive system of the snail and prawn within 24 h, with no detectable cerium assimilation.

An open-source SQL database schema for integrated clinical and translational data management in clinical trials.

Unlocking the power of personalised medicine in oncology hinges on the integration of clinical trial data with translational data (i.e. biospecimen-derived molecular information).

Griscelli Syndrome Type 2: Comprehensive Analysis of 149 New and Previously Described Patients with RAB27A Deficiency.

Griscelli syndrome type 2 (GS2) is a rare, life-threatening immunodysregulatory disorder characterised by impaired cytotoxic activity leading to susceptibility to haemophagocytic lymphohistiocytosis (HLH) and hypopigmentation. We completed a literature review and analysis of clinical data of 149 patients with GS2 including 8 new patients.We identified three founder mutations which show diverse phenotypic profiles (RAB27A c.

Dominant negative variants in ITPR3 impair T cell Ca2+ dynamics causing combined immunodeficiency.

The importance of calcium (Ca2+) as a second messenger in T cell signaling is exemplified by genetic deficiencies of STIM1 and ORAI1, which abolish store-operated Ca2+ entry (SOCE) resulting in combined immunodeficiency (CID). We report five unrelated patients with de novo missense variants in ITPR3, encoding a subunit of the inositol 1,4,5-trisphosphate receptor (IP3R), which forms a Ca2+ channel in the endoplasmic reticulum (ER) membrane responsible for the release of ER Ca2+ required to trigger SOCE, and for Ca2+ transfer to other organelles. The patients presented with CID, abnormal T cell Ca2+ homeostasis, incompletely penetrant ectodermal dysplasia, and multisystem disease.