Publications by authors named "Amy O'Neill"
Introduction: Restricted ankle dorsiflexion is common after lower limb injury. The aim of this pilot study was to investigate the effect of passive ankle joint mobilization and calf muscle massage on ankle dorsiflexion range of motion in adults with residual restricted dorsiflexion. The secondary aim was to assess the methodology of the pilot study to inform a larger clinical trial.
View Article and Find Full Text PDFHuntington's disease (HD) is caused by an expanded CAG trinucleotide repeat in exon 1 of the huntingtin () gene. We report the design of a series of pre-mRNA splicing modulators that lower huntingtin (HTT) protein, including the toxic mutant huntingtin (mHTT), by promoting insertion of a pseudoexon containing a premature termination codon at the exon 49-50 junction. The resulting transcript undergoes nonsense-mediated decay, leading to a reduction of mRNA transcripts and protein levels.
View Article and Find Full Text PDFArticle Synopsis
- Spinal Muscular Atrophy (SMA) is caused by a deficiency in the SMN protein due to a genetic issue with the SMN2 gene, which can be potentially treated by improving its splicing mechanism.
- Two main therapy options covered are nusinersen (Spinraza®) and risdiplam (Evrysdi®), both of which target SMN2's splicing but operate through different methods to enhance SMN protein production.
- These treatments not only benefit SMA patients but also represent significant advances in the development of targeted therapies for genetic disorders.
Objective: Assess the effectiveness of Make the Connection (MTC), an attachment-focused parenting programme, in fostering maternal attitudes thought to underlie sensitive responding.
Background: Effective parenting programmes are likely to mitigate negative outcomes associated with insecure attachment in infancy. Negative maternal attitudes and cognitions are thought to underlie insensitive parenting behaviour, and thus constitute a promising target for intervention.
Prosocial behavior requires expenditure of personal resources for the benefit of others, a fact that creates a "problem" when considering the evolution of prosociality. Models that address this problem have been developed, with emphasis typically placed on reciprocity. One model considers the advantages of being selective in terms of one's allocation of prosocial behavior so as to improve the chance that one will be benefitted in return.
View Article and Find Full Text PDFObjective: To report two cases of mouth ulcers in lamotrigine patients after oxcarbazepine withdrawal.
Patients And Methods: The first patient was a 35-year-old woman with bipolar disorder II (BD II) started on lamotrigine and tapered off oxcarbazepine while an inpatient. The second patient was a 36-year-old man with BD II.