Sleep-related breathing disorders (SBD) are conditions of abnormal and difficult respiration during sleep, including chronic snoring, obstructive sleep apnea (OSA), central sleep apnea (CSA), sleep-related hypoventilation disorders and sleep-related hypoxemia. Some of them have a limited impact on health, but others (e.g., OSA) can have serious consequences, because of their dangerous effects on sleep and the hematic balance of oxygen and carbon dioxide. According to several population-based...

The timely introduction of non-invasive ventilation (NIV) is extremely relevant in the multidisciplinary management of patients affected by amyotrophic lateral sclerosis (ALS) and is based on the proper identification of red flags for early diaphragmatic exhaustion. Polygraphic sleep recording may provide insightful information on the ongoing respiratory impairment; in particular, atypical breathing patterns need to be recognized, as the application of current guidelines for sleep-related...

A novel form of injury associated with obstructive sleep apnea (OSA) that was comorbid with obesity hypoventilation syndrome, and severe daytime somnolence is reported in a 55 year-old woman, manifesting as severe ocular and extra-ocular muscle injuries sustained from suddenly falling asleep and colliding with a sharp object, resulting in surgical enucleation of the right eye and orbital implant. The literature on injuries (falls, motor vehicle accidents) related to OSA and excessive day time...

PHOX2B is a transcription factor essential for the development of different classes of neurons in the central and peripheral nervous system. Heterozygous mutations in the PHOX2B coding region are responsible for the occurrence of Congenital Central Hypoventilation Syndrome (CCHS), a rare neurological disorder characterised by inadequate chemosensitivity and life-threatening sleep-related hypoventilation. Animal studies suggest that chemoreflex defects are caused in part by the improper...