First report of PURA syndrome in a Colombian patient with de novo missense variant c.692T>C (p.Phe231Ser).

We present the first documented case of PURA syndrome in Colombia. This rare neurological disease results from mutations in the PURA gene located on chromosome 5, leading to haploinsufficiency of the PUR-α protein. This protein is essential for early brain development and neuronal function.

Transcriptional re-programming of liver-resident iNKT cells into T-regulatory type-1-like liver iNKT cells involves extensive gene de-methylation.

Unlike conventional CD4+ T cells, which are phenotypically and functionally plastic, invariant NKT (iNKT) cells generally exist in a terminally differentiated state. Naïve CD4+ T cells can acquire alternative epigenetic states in response to different cues, but it remains unclear whether peripheral iNKT cells are epigenetically stable or malleable. Repetitive encounters of liver-resident iNKT cells (LiNKTs) with alpha-galactosylceramide (αGalCer)/CD1d-coated nanoparticles (NPs) can trigger their differentiation into a LiNKT cell subset expressing a T regulatory type 1 (TR1)-like (LiNKTR1) transcriptional signature.

Psychometric examination of the patient-reported outcome measurement information system parent proxy pediatric sleep measures from early childhood to adolescence in a nationally representative Spanish sample.

Study Objectives: To use a nationally representative sample to (1) evaluate the factor structure of the patient-reported outcome measurement information system (PROMIS) parent proxy pediatric sleep scales (Spanish translation), (2) examine the invariance of these scales across sex and across different developmental periods of childhood and adolescence, (3) confirm the information and precision of the scales using item response theory (IRT), and (4) provide age-based normative information.

Methods: Parents of a nationally representative sample of 5525 Spanish children and adolescents ages 5-16 years (56.1% boys) completed the Spanish translation parent proxy short versions of the sleep disturbance and sleep-related impairment scales.