ArticleRespirology case reports2025
Resilience Story of Managing Severe Obstructive Sleep Apnea With Hypoventilation Secondary to SELENON (SEPN1)-Related Myopathy.
Article in Respirology case reports, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Who cites it
2 citing papers in PubMed.
- Selenoprotein N and SEPN1-Related Myopathies: Mechanisms, Models, and Therapeutic Perspectives.Biomolecules · 2026Review
- Resilience Story of Managing Severe Obstructive Sleep Apnea With Hypoventilation Secondary to SELENON (SEPN1)-Related Myopathy.Respirology case reports · 2025Article
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Authors and funding
4 authors.
Funding
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Abstract
SELENON-related myopathy is a rare autosomal recessive disorder characterised predominantly by muscle weakness; sleep-disordered breathing and respiratory failure are frequent complications. We report a 15-year-old male with genetically confirmed SELENON-RM and a 12-year history of progressive sleep-related breathing disorders, managed with overnight volume-targeted pressure support (VtPS) positive airway pressure (PAP) plus supplemental oxygen. Longitudinal polysomnography (PSG) revealed evolution from mild REM-predominant hypopneas to severe obstructive sleep apnea (OSA) with hypoventilation. Despite the elimination of apneas and hypopneas on bilevel positive airway pressure with spontaneous-timed mode (BPAP-ST), persistent desaturation occurred during REM sleep. Transitioning to VtPS nocturnal PAP combined with oxygen-corrected hypoventilation normalised oxygen saturation across all sleep stages and abolished respiratory events.
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