RESUMEN
BACKGROUND: The objective of this qualitative study was to explore the value of virtual IPE competition that involved a COVID-19 case among healthcare students and the lessons that can be learned to improve this experience in the future. METHODS: The 27 senior students from the colleges of medicine, pharmacy, nursing, and paramedics were invited to two focus groups that followed the IPE competition and lasted 60 minutes each. A semi-structured focus group discussion guide was used in the focus group discussion to explore the benefits and limitations of the virtual IPE experience. Verbatim transcription of the two video-recorded sessions was conducted, and inductive thematic analysis was performed to uncover different emerging themes. RESULTS: The number of students who consented to participate was 16 (59.26%). The IPE virtual competition was perceived favorably by all students; however, multiple organization and communication barriers were reported. Although the participants liked the IPE virtual competition, they clearly stated their preference for an in-person IPE competition over the virtual one. Managing a COVID-19 case was not perceived favorably by some participants due to the absence of evidence-based clinical guidelines supporting certain treatment protocols over others. Thus, some participants preferred a non-COVID-19 case where clear and evidence-based guidelines exist. CONCLUSION: The use of different IPE strategies to enhance healthcare students' collaboration and understanding of their roles in the multidisciplinary healthcare team, especially during pandemic times, such as COVID-19, is possible. Future studies should examine new and innovative IPE strategies that address the identified limitations of virtual IPE.
RESUMEN
Congenital myasthenic syndrome comprises several genetic disorders that impair neuromuscular junction transmission. Causative mutations occur in at least 30 genes, approximately 6-8% of which are presynaptic. One such gene, VAMP1, encodes vesicle-associated membrane protein-1, which is crucial in the formation and fusion of synaptic vesicles with the presynaptic membrane at the neuromuscular junction. VAMP1 mutations are associated with two main phenotypes: a) autosomal recessive congenital myasthenic syndrome and b) autosomal dominant spastic ataxia 1. We report a girl from a consanguineous Saudi family presenting with hypotonia, developmental delay, feeding difficulties and floppiness since birth. Comprehensive genetic testing revealed a homozygous splicing mutation in VAMP1. RT-PCR confirmed the presence of an aberrant transcript causing skipping of exon 2 in the gene.
