Journal ArticleDOI
Failure of automatic control of ventilation (Ondine's curse). Report of an infant born with this syndrome and review of the literature.
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This article is published in Medicine.The article was published on 1970-11-01. It has received 342 citations till now. The article focuses on the topics: Congenital central hypoventilation syndrome.read more
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Journal ArticleDOI
Genetics of congenital central hypoventilation syndrome: lessons from a seemingly orphan disease.
TL;DR: This Pulmonary Perspective has been prepared to demonstrate the lesson that a seemingly straightforward orphan disease with disordered respiratory control is actually a more global phenomenon of ANS dysregulation, and to bring the remarkable genetic progress in CCHS, culminating with the identification of a defining gene, the paired-like homeobox gene (PHOX)2b, to the adult and pediatric pulmonologist/intensivist readership of the Journal.
Journal ArticleDOI
PHOX2B in respiratory control: lessons from congenital central hypoventilation syndrome and its mouse models.
Jeanne Amiel,Véronique Dubreuil,Véronique Dubreuil,Nelina Ramanantsoa,Gilles Fortin,Jorge Gallego,Jorge Gallego,Jean-François Brunet,Jean-François Brunet,Christo Goridis,Christo Goridis +10 more
TL;DR: Physiological experiments show that RTN/pFRG neurons are crucial to driving proper breathing at birth and are necessary for central chemoreception and the generation of a normal respiratory rhythm.
Journal ArticleDOI
Idiopathic congenital central hypoventilation syndrome: evaluation of brain-derived neurotrophic factor genomic DNA sequence variation.
TL;DR: A genetic basis for CCHS is supported, though mutations of BDNF are not consistent in this disorder, because of altered respiratory control in the BDNF knock-out mouse model and localization to the enteric nervous system in human tissue.
Journal ArticleDOI
Effect of a prosthetic appliance for treatment of sleep apnea syndrome on masticatory and tongue muscle activity.
TL;DR: The apnea appliance activated masticatory and tongue muscles during sleep and prevented the upper airway from collapsing and the prosthetic appliance was useful in the treatment of sleep apnea syndrome.
Journal ArticleDOI
Delineation of late onset hypoventilation associated with hypothalamic dysfunction syndrome.
Loïc de Pontual,Loïc de Pontual,Delphine Trochet,Sophie Caillat-Zucman,Othman A Abou Shenab,Pierre Bougnères,Yanick J. Crow,Steve Cunningham,Blandine Esteva,Lada Cindro Heberle,Juliane Léger,Graziella Pinto,Michel Polak,Magdy Helmy Shafik,Christian Straus,Ha Trang,Arnold Munnich,Stanislas Lyonnet,Isabelle Desguerre,Jeanne Amiel +19 more
TL;DR: The cause underlying LO-CHS/HD remains poorly understood although recurrence in siblings argues for a monogenic disorder and the outcome remains poor for this group of patients.