Introduction The environmental impact of endoscopy, including small-bowel capsule endoscopy (SBCE), is a topic of growing attention and concern. This study aimed to evaluate the greenhouse gas (GHG) emissions (kgCO(2)) generated by an SBCE procedure. Methods Life cycle assessment methodology (ISO 14040) was used to evaluate three brands of SBCE device and included emissions generated by patient travel, bowel pr...
Introduction The environmental impact of endoscopy is a topic of growing interest. This study aimed to compare the carbon footprint of performing an esogastroduodenoscopy (EGD) with a reusable (RU) or with a single-use (SU) disposable gastroscope.Methods SU (Ambu aScope Gastro) and RU gastroscopes (Olympus, H190) were evaluated using life cycle assessment methodology (ISO 14040) including the manufacture, distr...
The transition from a transcriptionally active state (GV) to a transcriptionally inactive state (mature MII oocytes) is required for the acquisition of oocyte developmental competence. We hypothesize that the expression of specific genes at the in vivo matured (MII) stage could be modulated by posttranscriptional mechanisms, particularly regulation of alternative splicing (AS). In this study, we examined the tr...
In this study, we have used a modified U1 snRNA that completely matches the splice donor site of HGSNAT gene exon 2, which corrected the effect of the common 5’ splice site mutation c.234+1G>A in Mucopolysaccharidosis IIIC. In another approach using an antisense oligonucleotide (AO) we have succeeded in the correction of the c.66G>A splicing mutation in CSTB gene (Unverricht–Lundborg disease). Besides that, we ...
Mutations affecting RNA splicing represent more than 20% of the mutant alleles in Sanfilippo syndrome type C, a rare lysosomal storage disorder that causes severe neurodegeneration. Many of these mutations are localized in the conserved donor or acceptor splice sites, while few are found in the nearby nucleotides. METHODS: In this study we tested several therapeutic approaches specifically designed for differen...