Sleep apnoea and hypoventilation in patients with five major types of muscular dystrophy.

BACKGROUND: The characteristics of and relationship between sleep apnoea and hypoventilation in patients with muscular dystrophy (MD) remain to be fully understood. METHODS: We analysed 104 in-laboratory sleep studies of 73 patients with MD with five common types (DMD-Duchenne, Becker MD, CMD-congenital, LGMD-limb-girdle and DM-myotonic dystrophy). We used generalised estimating equations to examine differences among these types for outcomes. RESULTS: Patients in all five types had high risk of sleep apnoea with 53 of the 73 patients (73%) meeting the diagnostic criteria in at least one study. Patients with DM had higher risk of sleep apnoea compared with patients with LGMD (OR=5.15, 95% CI 1.47 to 18.0; p=0.003). Forty-three per cent of patients had hypoventilation with observed prevalence higher in CMD (67%), DMD (48%) and DM (44%). Hypoventilation and sleep apnoea were associated in those patients (unadjusted OR=2.75, 95% CI 1.15 to 6.60; p=0.03), but the association weakened after adjustment (OR=2.32, 95% CI 0.92 to 5.81; p=0.08). In-sleep average heart rate was about 10 beats/min higher in patients with CMD and DMD compared with patients with DM (p=0.0006 and p=0.02, respectively, adjusted for multiple testing). CONCLUSION: Sleep-disordered breathing is common in patients with MD but each type has its unique features. Hypoventilation was only weakly associated with sleep apnoea; thus, high clinical suspicion is needed for diagnosing hypoventilation. Identifying the window when respiratory muscle weakness begins to cause hypoventilation is important for patients with MD; it enables early intervention with non-invasive ventilation-a therapy that should both lengthen the expected life of these patients and improve its quality.Cite Now.

A Gut Feeling: Abdominal Symptoms as an Initial Presentation of EVALI.

Electronic cigarette or vaping product use-associated lung injury (EVALI) is a disease process that has become prevalent in the United States.1 The Centers for Disease Control and Prevention reported there have been almost 2700 cases of this condition in the United States as of January 14, 2020, with >50% of these patients aged ≤24.2 We present a 13-year-old boy with a history of functional abdominal pain who presented with recurrent episodes of nausea, emesis, periodic fevers, and severe episodic abdominal pain after a 12-month history of significant electronic cigarette use. On admission, he had severe abdominal pain and appeared anxious. A computed tomography scan of the abdomen was unremarkable, but a computed tomography scan of the chest demonstrated both multifocal ground-glass and crazy-paving pulmonary opacities bilaterally, with scattered septal thickening and dependent bibasilar opacities associated with volume loss. Inflammatory markers were significantly elevated, and cell counts were remarkable for leukocytosis and neutrophilia. The patient was ultimately diagnosed with EVALI and treated with intravenous methylprednisolone, resulting in improvement. This is an example of a case of EVALI in an adolescent, in which the presenting symptoms are largely gastrointestinal. It is important to keep EVALI in the differential diagnosis of patients who exhibit gastrointestinal symptoms, have markers of increased systemic inflammation, and endorse a history of vaping or are in the age range of electronic cigarette users. Although obtaining an accurate history of vaping can be challenging in the pediatric population, it is especially critical to do so.