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1.
J Clin Sleep Med ; 19(9): 1697-1700, 2023 Sep 01.
Article in English | MEDLINE | ID: mdl-37185129

ABSTRACT

Congenital central hypoventilation syndrome is a rare disorder due to a mutation in the PHOX2B gene, characterized by a failure in autonomic control of breathing with diminished or absent response to hypoxia and hypercapnia, which is most pronounced during sleep. Most patients present from birth with central apneas and hypoventilation, or later in the setting of a physiologic stress. Recent literature in mice with a Phox2b27Ala/+ mutation suggests a predisposition to obstructive apneas likely due to hypoglossal dysgenesis. We report on three patients with obstructive sleep apneas with absent or mild hypoventilation. Our cases propose that obstructive apneas can be the primary presentation in patients who subsequently develop the classic phenotype of congenital central hypoventilation syndrome and emphasize their close monitoring and surveillance. CITATION: Kagan O, Zhang C, McElyea C, Keens TG, Davidson Ward SL, Perez IA. Obstructive sleep apnea as a presentation of congenital central hypoventilation syndrome. J Clin Sleep Med. 2023;19(9):1697-1700.

2.
J Ultrasound ; 25(2): 333-338, 2022 Jun.
Article in English | MEDLINE | ID: mdl-32844375

ABSTRACT

Lung ultrasound is an essential tool in critical care, made more so by the enhanced precautions associated with the Covid-19 pandemic. Here we describe 2 cases of multiple, small shred signs seen on ultrasound of Covid-19 patients.


Subject(s)
COVID-19 , Artifacts , Humans , Lung/diagnostic imaging , Pandemics , Ultrasonography
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