EEFSEC deficiency: A selenopathy with early-onset neurodegeneration.

Inborn errors of selenoprotein expression arise from deleterious variants in genes encoding selenoproteins or selenoprotein biosynthetic factors, some of which are associated with neurodegenerative disorders. This study shows that bi-allelic selenocysteine tRNA-specific eukaryotic elongation factor (EEFSEC) variants cause selenoprotein deficiency, leading to progressive neurodegeneration. EEFSEC deficiency, an autosomal recessive disorder, manifests with global developmental delay, progressive spasticity, ataxia, and seizures.

The textures of sarcoidosis: quantifying lung disease through variograms.

Sarcoidosis is a granulomatous disease affecting the lungs in over 90\% of patients. Qualitative assessment of chest CT by radiologists is standard clinical practice and reliable quantification of disease from CT would support ongoing efforts to identify sarcoidosis phenotypes. Standard imaging feature engineering techniques such as radiomics suffer from extreme sensitivity to image acquisition and processing, potentially impeding generalizability of research to clinical populations.

Optimizing prone CT use for suspected interstitial lung abnormalities.

Objectives: We investigated whether supine chest CT alone suffices for diagnosing ILAs, thereby reducing the need for prone chest CT.

Materials And Methods: Patients who underwent prone chest CT for suspected ILAs from January 2021 to July 2023, with matching supine CT within 1 year, were retrospectively evaluated. Five multinational thoracic radiologists independently rated ILA suspicion and fibrosis scores (1 to 5-point) and ILA extent (1-100%) using supine CT first, then combined supine-prone CT after a 1-month washout.

Unravelling the druggability and immunological roles of the SOCS-family proteins.

The Suppressor of Cytokine Signalling (SOCS) protein family play a critical role in cytokine signalling and regulation of the JAK/STAT pathway with functional consequences to the immune response. Members of this family are implicated in multiple different signalling cascades that drive autoimmune diseases and cancer, through their binding to phosphotyrosine modified proteins as well as ubiquitination activity as part of Cullin5 RING E3 ligases. Here we review the SOCS family members CISH and SOCS1-SOCS7, with a focus on their complex role in immunity.

"Do they REALLY trust us"?: Lessons from a volunteer research registry.

Background: All IN for Health is a well-established community-academic partnership dedicated to helping improve the lives of Indiana residents by increasing health research literacy and promoting health resources, as well as opportunities to participate in research. It is sponsored by the Indiana Clinical and Translational Science Institute (I-CTSI). The study's purpose was to measure trust in biomedical research and healthcare organizations among research volunteers.