A study to identify individuals at risk to be affected by late-onset Pompe disease who had previously been given a non-specific or tentative diagnosis for their muscle weakness (Pompe PURSUE).

Background: Late-onset Pompe disease (LOPD) is an autosomal recessive lysosomal storage disorder that results in severe progressive proximal muscle weakness. Over time, reductions in muscle strength result in respiratory failure and a loss of ambulation. Delayed diagnosis of LOPD deprives patients of treatments that can enhance quality of life and potentially slow disease progression.

Time to surgery in early-stage non-small cell lung cancer: Defining the optimal diagnosis-to-resection interval to reduce mortality.

Background: Most patient variables that impact cancer case complexity and outcomes are not modifiable preoperatively; however, the time from diagnosis to surgical resection is fluid. This retrospective study sought to identify the optimal interval from diagnosis of non-small cell lung cancer (NSCLC) to surgery to reduce mortality.

Methods: We evaluated adult patients with early-stage NSCLC who underwent upfront surgical resection between 2009 and 2019 using institutional data.

Unveiling non-coding variants: synergising RNA sequencing and DNA sequencing for enhanced molecular diagnosis.

Background: Pathogenic variants in the gene are associated with dystrophinopathy including Duchenne and Becker muscular dystrophy (DMD/BMD). Targeted gene, gene panels, exomes and genome sequencing have advanced genetic diagnostics, yet some cases remain elusive.

Methods: We performed total RNA sequencing (RNAseq) on muscle biopsy from 13 male patients with a clinical diagnosis of DMD/BMD.

The molecular chaperone ALYREF promotes R-loop resolution and maintains genome stability.

Unscheduled R-loops usually cause DNA damage and replication stress, and are therefore a major threat to genome stability. Several RNA processing factors, including the conserved THO complex and its associated RNA and DNA-RNA helicase UAP56, prevent R-loop accumulation in cells. Here, we investigate the function of ALYREF, an RNA export adapter associated with UAP56 and the THO complex, in R-loop regulation.