The majority of chronic myeloid leukaemia (CML) patients express either e13a2 or e14a2 BCR-ABL1 transcripts. Variant fusion genes can arise, usually due to alternative splicing of either BCR or ABL1 exons, with molecular monitoring by quantitative PCR (qPCR) in response to tyrosine kinase inhibitor therapy rarely reported in such cases. A case of CML is described in which an e13a3 BCR-ABL1 fusion was characterised. A qPCR methodology was developed and applied prospectively to demonstrate a favourable molecular response to imatinib treatment. This case serves to highlight the requirement for molecular monitoring of those CML patients harbouring the e13a3 and other variant BCR-ABL1 transcripts.

For individuals with motor neuron disease, the transition to using non-invasive ventilation has a number of associated stressors, which can negatively impact adherence to ventilation and its benefits to quality of life. Music listening interventions have been linked with a reduction in anxiety and physiological stress responses in mechanically ventilated patients. This article presents four case studies from a feasibility study that investigated the experience and effect of a music-assisted relaxation intervention on anxiety, quality of life, and non-invasive ventilation use during the first 3 months of using non-invasive ventilation. The experiences of these four participants demonstrated how music-assisted relaxation served to distract from non-invasive ventilation and promote relaxation, indicating that for some, music-assisted relaxation could be a useful strategy to optimize their non-invasive ventilation experience. Early music therapy intervention in motor neuron disease progression could be beneficial to address obstacles faced by one participant in using music-assisted relaxation.

Background: Transitioning to non-invasive ventilation (NIV) can cause anxiety in people with Motor Neuron Disease (MND), which may reduce adherence rates. Music therapy has demonstrated positive effects with mechanical (invasive) ventilation.Method: This feasibility study examined the effects of music-assisted relaxation (MAR) on NIV adherence, anxiety, and quality of life for people with MND. Data were collected at baseline, 7-days post, and 3-months post NIV implementation.Results: Of 18 consenting participants, 15 chose the MAR condition. Results suggested that supporting NIV transition within the first 7 days may be advantageous for long-term adherence. No effects were found for anxiety or quality of life. Limitations included small sample size, lack of an adequate control, and possible ceiling effects on the instruments used. Qualitative data indicated most participants considered the relaxing and distracting effects of MAR were useful.Conclusions: In this small sample, we found some demand for and acceptability of a music-based intervention in this setting. Participants reported differing experiences of using MAR, and there were technical and logistical issues regarding timely and accessible provision of a MAR intervention within the treatment trajectory of NIV implementation. Conflicting quantitative and qualitative data support the need for mixed method research in this area.

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