Hypomorphic RAG2 Deficiency Promotes Selection of Self-Reactive B Cells.

Reduced function or hypomorphic variants in recombination-activating genes (RAG) 1 or 2 result in a broad clinical phenotype including common variable immunodeficiency (CVID) and even adult-onset disease. Milder RAG variants are less characterized. Here we describe the longitudinal course of a milder combined RAG deficiency in 3 of 7 siblings sharing the same RAG2 mutations over a 50-year study.

Intermittent standing does not acutely improve postprandial metabolism in university students.

Height-adjustable workstations offer a practical strategy to reduce sedentary behaviour in student populations, but the effect of standing intervals on young adults' metabolic health remains uncertain. This study investigated the acute impact of breaking up sitting time with intermittent standing on postprandial metabolic responses in university students. Using a randomised, cross-over design, 23 participants (13 females, 10 males; age, 24 ± 5 years; BMI, 23.

Therapeutic potential of seaweeds and their biofabricated nanoparticles in treating urolithiasis: A review.

Urolithiasis affects a significant portion of the global population, causing discomfort and pain. Unfortunately, effective drugs to treat this disorder are currently unavailable due to multiple mechanisms and an incomplete understanding of its causes. Consequently, drugs with multiple targets could be a safer and more effective remedy for treating urolithiasis.

A retrospective service evaluation of patient awareness and engagement, and medication compliance and adherence, in patients with opportunistically identified vertebral fragility fractures in a local fracture liaison service.

Introduction: Fracture liaison services (FLS), often staffed by radiographers, identify and treat patients over the age of 50 at high risk of future fractures by intervening after the first fracture. Vertebral fragility fractures (VFF) are particularly disabling and are highly predictive of future fracture but are underdiagnosed as they often do not come to clinical attention. To review the behaviour traits of patient with opportunistically identified VFF's (OIVFF), local FLS data can be used to compare outcomes of OIVFF's with acute VFF's (AVFF) and non-hip/spine fragility fractures (NHSFF).