Publications by authors named "R PARTRIDGE"

Dysregulated differentiation of naïve CD4+ T cells into T helper 17 (Th17) cells is likely a key factor predisposing to many autoimmune diseases. Therefore, better understanding how Th17 differentiation is regulated is essential to identify novel therapeutic targets and strategies to identify individuals at high risk of developing autoimmunity. Here, we extend our prior work using chemical inhibitors to provide mechanistic insight into a novel regulator of Th17 differentiation, the kinase dual-specificity tyrosine phosphorylation-regulated kinase 1A (DYRK1A).

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Background: Drug use trends change rapidly among youth, leaving intervention experts struggling to respond promptly. Delays in responses can lead to preventable morbidity and mortality. The COVID-19 pandemic underscored the need for implementation science to facilitate rapid, equitable responses using existing treatment and prevention efforts.

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Article Synopsis
  • Down Syndrome Regression Disorder (DSRD) is a rare neurological condition affecting individuals with Down syndrome (DS), presenting with acute neuropsychiatric symptoms and showing potential connections to immune dysregulation.
  • In a study of 41 individuals with DSRD, 20% had de novo variants in immune regulatory genes, with some linked to an interferon response, highlighting a possible genetic factor in disease development.
  • The presence of these pathogenic variants was associated with faster clinical decline, preceding triggers, and MRI abnormalities, suggesting a need for further research on the relationship between immune regulation and DSRD.
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Background: There is significant unmet need for effective and efficiently delivered care for people with Parkinson's disease (PwP). We undertook a service improvement initiative to co-develop and implement a new care pathway, Home Based Care (HBC), based on supported self-management, remote monitoring and the ability to trigger a healthcare contact when needed.

Objective: To evaluate feasibility, acceptability and safety of Home Based Care.

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Three large multi-center studies have identified the clinical utility of intravenous immunoglobulin (IVIg) in the treatment of Down syndrome regression disorder (DSRD). Yet the tolerability of infusions in individuals with DS and the safety of IVIg remains unknown in this population. This study sought to evaluate the safety and tolerability of IVIg in individuals with DSRD compared to a real-world cohort of individuals with pediatric onset neuroimmunologic disorders.

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