The atonal homolog 7 (ATOH7) gene encodes a transcription factor involved in determining the fate of retinal progenitor cells and is particularly required for optic nerve and ganglion cell development. Using a combination of autozygosity mapping and next generation sequencing, we have identified homozygous mutations in this gene, p.E49V and p.P18RfsX69, in two consanguineous families diagnosed with multiple ocular developmental defects, including severe vitreoretinal dysplasia, optic nerve hypoplasia, persistent fetal vasculature, microphthalmia, congenital cataracts, microcornea, corneal opacity and nystagmus. Most of these clinical features overlap with defects in the Norrin/β-catenin signalling pathway that is characterized by dysgenesis of the retinal and hyaloid vasculature. Our findings document Mendelian mutations within ATOH7 and imply a role for this molecule in the development of structures at the front as well as the back of the eye. This work also provides further insights into the function of ATOH7, especially its importance in retinal vascular development and hyaloid regression.
Objectives: Little is known about nurses’ and patients’ perceptions of learning needs following coronary artery bypass graft (CABG) surgery in Oman. This study aimed to identify patients' and nurses' perceptions of post-CABG learning needs. Methods: This cross-sectional study was conducted in two cardiac units in Oman between February and April 2018. Participants were from step-down units and perceptions of post-CABG learning needs were collected using a modified version of the Cardiac Patients Learning Need Inventory (MCPLNI) questionnaire. Data were analysed using descriptive and inferential statistics. Results: A total of 90 patients and 90 nurses were included in this study (response rate: 100%). Nurses perceived information about chest and leg wound care, medications and complications as patients’ most important learning needs (4.89 ± 0.31, 4.84 ± 0.33 and 4.78 ± 0.45, respectively). Similarly, patients perceived a need for post-CABG learning related to chest and leg wound care, complications and medication, while learning related to physical activity received a moderate priority (4.92 ± 0.20, 4.80 ± 0.45, 4.85 ± 0.26 and 3.50 ± 1.34, respectively). Conclusion: Before discharging patients, they should be provided with specific information related to post-CABG care. It is essential to assess patients’ learning needs and incorporate those learning needs into discharge plans.Keywords: Learning; Perception; Coronary Artery Bypass; Education; Patients; Nurses; Oman.
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