Publications by authors named "K Swoboda"
Background: Low physical performance is associated with higher mortality rate in multiple pathological conditions. Here, we aimed to determine whether body composition and physical performance could be prognostic factors in non-small cell lung cancer (NSCLC) patients. Moreover, we performed an exploratory approach to determine whether plasma samples from NSCLC patients could directly affect metabolic and structural phenotypes in primary muscle cells.
View Article and Find Full Text PDFSpinal muscular atrophy (SMA) is caused by mutations in SMN1. SMN2 is a paralogous gene with a C•G-to-T•A transition in exon 7, which causes this exon to be skipped in most SMN2 transcripts, and results in low levels of the protein survival motor neuron (SMN). Here we show, in fibroblasts derived from patients with SMA and in a mouse model of SMA that, irrespective of the mutations in SMN1, adenosine base editors can be optimized to target the SMN2 exon-7 mutation or nearby regulatory elements to restore the normal expression of SMN.
View Article and Find Full Text PDFArticle Synopsis
- The NURTURE study investigated the effects of nusinersen on children with spinal muscular atrophy (SMA) who started treatment before showing symptoms, finding positive outcomes in survival, motor milestones, and safety after 5 years.
- All participating children remained alive, with significant motor skill achievements, particularly among those with three SMN2 gene copies.
- Results emphasize the benefits of early treatment for SMA and the importance of considering specific criteria when evaluating trial data.
Spinal muscular atrophy (SMA) is a devastating neuromuscular disease caused by mutations in the gene. Despite the development of various therapies, outcomes can remain suboptimal in SMA infants and the duration of such therapies are uncertain. is a paralogous gene that mainly differs from by a C•G-to-T•A transition in exon 7, resulting in the skipping of exon 7 in most transcripts and production of only low levels of survival motor neuron (SMN) protein.
View Article and Find Full Text PDFBackground: Comfort and recovery are major concerns of patients seeking aesthetic surgery. This study aimed to assess postoperative pain and recovery after outpatient breast surgery under sedation, intercostal block, and local anaesthesia.
Methods: This prospective cohort study included all consecutive patients who underwent aesthetic breast surgery between April 2021 and August 2022.