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Respiratory and autonomic dysfunction in congenital central hypoventilation syndrome.
Moreira TS, Takakura AC, Czeisler C, Otero JJ. Moreira TS, et al. J Neurophysiol. 2016 Aug 1;116(2):742-52. doi: 10.1152/jn.00026.2016. Epub 2016 May 25. J Neurophysiol. 2016. PMID: 27226447 Free PMC article. Review.
The molecular and cellular basis of central respiratory chemoreception is based on the detection of CO2 via intrinsic proton receptors (TASK-2, GPR4) as well as synaptic input from peripheral chemoreceptors and other brain regions. Murine models of congenital …
The molecular and cellular basis of central respiratory chemoreception is based on the detection of CO2 via intrinsic proton receptor …
Congenital central hypoventilation syndrome and the PHOX2B gene: a model of respiratory and autonomic dysregulation.
Patwari PP, Carroll MS, Rand CM, Kumar R, Harper R, Weese-Mayer DE. Patwari PP, et al. Respir Physiol Neurobiol. 2010 Oct 31;173(3):322-35. doi: 10.1016/j.resp.2010.06.013. Epub 2010 Jun 30. Respir Physiol Neurobiol. 2010. PMID: 20601214 Free PMC article. Review.
The paired-like homeobox 2B gene (PHOX2B) is the disease-defining gene for congenital central hypoventilation syndrome (CCHS). Individuals with CCHS typically present in the newborn period with alveolar hypoventilation during sleep and often dur …
The paired-like homeobox 2B gene (PHOX2B) is the disease-defining gene for congenital central hypoventilation syndro …
Congenital central hypoventilation syndrome: An overview of etiopathogenesis, associated pathologies, clinical presentation, and management.
Zaidi S, Gandhi J, Vatsia S, Smith NL, Khan SA. Zaidi S, et al. Auton Neurosci. 2018 Mar;210:1-9. doi: 10.1016/j.autneu.2017.11.003. Epub 2017 Nov 13. Auton Neurosci. 2018. PMID: 29249648 Review.
Congenital central hypoventilation syndrome (CCHS), known colloquially as Ondine's curse, is a rare disorder characterized by impaired autonomic control of breathing during sleep from the loss of vagal input and diminished sensitivity of CO(2 …
Congenital central hypoventilation syndrome (CCHS), known colloquially as Ondine's curse, is a rare disorder cha …
Control of Breathing and Central Hypoventilation Syndromes.
Baughn JM, Matarese CA. Baughn JM, et al. Sleep Med Clin. 2023 Jun;18(2):161-171. doi: 10.1016/j.jsmc.2023.01.002. Sleep Med Clin. 2023. PMID: 37120159 Review.
Control of breathing in children varies with age and sleep state. There is overlap between central hypoventilation, autonomic dysfunction, and hypothalamic dysfunction in the rare disorders (congenital central hypoventilation …
Control of breathing in children varies with age and sleep state. There is overlap between central hypoventilation, autonom …
Congenital central hypoventilation syndrome associated with Hirschsprung's Disease: case report and literature review.
Sandoval RL, Zaconeta CM, Margotto PR, Cardoso MT, França EM, Medina CT, Canó TM, Faria AS. Sandoval RL, et al. Rev Paul Pediatr. 2016 Sep;34(3):374-8. doi: 10.1016/j.rpped.2015.10.009. Epub 2016 Jan 6. Rev Paul Pediatr. 2016. PMID: 26838603 Free PMC article. Review.
OBJECTIVE: To report the case of a newborn with recurrent episodes of apnea, diagnosed with Congenital Central hypoventilation syndrome (CCHS) associated with Hirschsprung's disease (HD), configuring Haddad syndrome. ...COMMENTS: This is a rare …
OBJECTIVE: To report the case of a newborn with recurrent episodes of apnea, diagnosed with Congenital Central hypoventilat …
Sleep dysregulation in sympathetic-mediated diseases: implications for disease progression.
Olivares MJ, Toledo C, Ortolani D, Ortiz FC, Díaz HS, Iturriaga R, Del Río R. Olivares MJ, et al. Sleep. 2022 Nov 9;45(11):zsac166. doi: 10.1093/sleep/zsac166. Sleep. 2022. PMID: 35878762 Review.
The autonomic nervous system (ANS) plays an important role in the coordination of several physiological functions including sleep/wake process. ...The purpose of this review is to explore potential neural mechanisms involved in both the onset/maintenance of s …
The autonomic nervous system (ANS) plays an important role in the coordination of several physiological functions inclu …
Pediatric disorders with autonomic dysfunction: what role for PHOX2B?
Gaultier C, Trang H, Dauger S, Gallego J. Gaultier C, et al. Pediatr Res. 2005 Jul;58(1):1-6. doi: 10.1203/01.PDR.0000166755.29277.C4. Epub 2005 May 18. Pediatr Res. 2005. PMID: 15901893 Review.
Hirschsprung disease, neuroblastomas, and congenital central hypoventilation syndrome can occur in combination, and familial cases have been reported in all three conditions. ...For clarifying the variable clinical expression of the autonomic …
Hirschsprung disease, neuroblastomas, and congenital central hypoventilation syndrome can occur in combination, …
[Ondine syndrome or central congenital hypoventilation syndrome].
Trang H. Trang H. Rev Prat. 2006 Jan 31;56(2):125-8. Rev Prat. 2006. PMID: 16584036 Review. French.
Congenital central hypoventilation syndrome (CCHS) is a rare disease due to a severely impaired central autonomic control of breathing and dysfunction of the autonomous nervous system. ...
Congenital central hypoventilation syndrome (CCHS) is a rare disease due to a severely impaired central …