Evaluating Process and Outcomes of Public Involvement in Applied Health and Social Care Research: A Rapid Systematic Review.

Objective: Public Involvement (PI) in applied health and social care research has grown exponentially in the UK. This review aims to synthesise published UK evidence that evaluates the process and/or outcome(s) of PI in applied health and social care research to identify key contextual factors, effective strategies, outcomes and public partner experiences underpinning meaningful PI in research.

Methods: Following a pre-registered protocol, we systematically searched four databases and two key journals for studies conducted within the UK between January 2006 and July 2024.

Ultrasensitive Protein Aggregate Quantification Assays for Neurodegenerative Diseases on the Simoa Platform.

Nanoscale aggregates play a key role in the pathogenesis of neurodegenerative disorders such as Alzheimer's and Parkinson's disease. However, quantifying these aggregates in complex biological samples, such as biofluids and postmortem brain tissue, has been challenging due to their low concentration and small size, necessitating the development of methods with high sensitivity and specificity. Here, we have developed ultrasensitive assays utilizing the Quanterix Simoa platform to detect α-synuclein, β-amyloid and tau aggregates, including those with common posttranslational modifications such as truncation of α-synuclein and AT8 phosphorylation of tau aggregates.

Effects of initial peritoneal dialysis prescription on clinical outcomes in Japanese peritoneal dialysis patients: a cohort study.

Effects of the initial peritoneal dialysis (PD) prescription on clinical outcomes are unknown in Japan. We conducted a cohort study using data from Peritoneal Dialysis Outcomes and Practice Patterns Study. The patients were divided into two groups by the volume of the initial PD prescription (≤ 4 L/day or > 4 L/day).

Identification of novel 3D-genome altering and complex structural variants underlying retinitis pigmentosa type 17 through a multistep and high-throughput approach.

Introduction: Autosomal dominant retinitis pigmentosa type 17 (adRP, type RP17) is caused by complex structural variants (SVs) affecting a locus on chromosome 17 (chr17q22). The SVs disrupt the 3D regulatory landscape by altering the topologically associating domain (TAD) structure of the locus, creating novel TAD structures (neo-TADs) and ectopic enhancer-gene contacts. Currently, screening for RP17-associated SVs is not included in routine diagnostics given the complexity of the variants and a lack of cost-effective detection methods.