Novel Corrector for Variants of SLC6A8: A Therapeutic Opportunity for Creatine Transporter Deficiency.

Mutations in creatine transporter SLC6A8 cause creatine transporter deficiency (CTD), which is responsible for 2% of all cases of X-linked intellectual disability. CTD has no current treatments and has a high unmet medical need. Inspired by the transformational therapeutic impact of small molecule "correctors" for the treatment of cystic fibrosis, which bind to mutated versions of the CFTR ion channel to promote its trafficking to the cell surface, we sought to identify small molecules that could stabilize SLC6A8 as a potential treatment for CTD.

Development and multi-center validation of a fully automated digital immunoassay for neurofilament light chain: toward a clinical blood test for neuronal injury.

Objectives: Neurofilament light chain (NfL) has emerged as a promising biomarker for detecting and monitoring axonal injury. Until recently, NfL could only be reliably measured in cerebrospinal fluid, but digital single molecule array (Simoa) technology has enabled its precise measurement in blood samples where it is typically 50-100 times less abundant. We report development and multi-center validation of a novel fully automated digital immunoassay for NfL in serum for informing axonal injury status.

The Effects of High-Load Slow-Velocity Resistance Exercise Training in Athletes With Tendinopathy: A Critically Appraised Topic.

Clinical Scenario: Tendinopathy is a musculoskeletal pathological condition experienced by athletes that can result in pain, impaired muscle performance, and loss of physical function and can hinder return to sports. Various types of resistance exercise training are effective for treating tendinopathy, including isometric, concentric, eccentric, and high-load slow-velocity resistance exercise.

Clinical Question: What are the effects of high-load slow-velocity resistance exercise training, compared with other forms of resistance exercise, on tendon morphology and patient-reported outcomes in athletes with tendinopathy?

Summary Of Key Findings: The findings of 4 randomized clinical trials were included.

Treatment of Stage 4 Pressure Injuries With Autologous Heterogenous Skin Construct: A Single-Center Retrospective Study.

Background: Pressure injuries (PIs) are a challenging problem in health care affecting 2.5 million people per year in the US, with 60,000 deaths directly attributed to PIs annually. Surgical closure is the treatment of choice for stage 3 and 4 PIs, but with complication rates of 59% to 73%, less invasive and more effective treatments are needed.