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Table representation of search results timeline featuring number of search results per year.

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1997 4
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1999 3
2000 2
2001 2
2002 2
2003 3
2004 5
2005 8
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129 results

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Page 1
Guidelines for diagnosis and management of congenital central hypoventilation syndrome.
Trang H, Samuels M, Ceccherini I, Frerick M, Garcia-Teresa MA, Peters J, Schoeber J, Migdal M, Markstrom A, Ottonello G, Piumelli R, Estevao MH, Senecic-Cala I, Gnidovec-Strazisar B, Pfleger A, Porto-Abal R, Katz-Salamon M. Trang H, et al. Orphanet J Rare Dis. 2020 Sep 21;15(1):252. doi: 10.1186/s13023-020-01460-2. Orphanet J Rare Dis. 2020. PMID: 32958024 Free PMC article. Review.
BACKGROUND: Congenital Central Hypoventilation Syndrome (CCHS) is a rare condition characterized by an alveolar hypoventilation due to a deficient autonomic central control of ventilation and a global autonomic dysfunction. ...
BACKGROUND: Congenital Central Hypoventilation Syndrome (CCHS) is a rare condition characterized by an alveolar hypo …
Hirschsprung disease.
Montalva L, Cheng LS, Kapur R, Langer JC, Berrebi D, Kyrklund K, Pakarinen M, de Blaauw I, Bonnard A, Gosain A. Montalva L, et al. Nat Rev Dis Primers. 2023 Oct 12;9(1):54. doi: 10.1038/s41572-023-00465-y. Nat Rev Dis Primers. 2023. PMID: 37828049 Review.
Hirschsprung disease (HSCR) is a rare congenital intestinal disease that occurs in 1 in 5,000 live births. HSCR is characterized by the absence of ganglion cells in the myenteric and submucosal plexuses of the intestine. ...Syndromes associated with HSCR include trisomy 21 …
Hirschsprung disease (HSCR) is a rare congenital intestinal disease that occurs in 1 in 5,000 live births. HSCR is characterized by t …
The trisomy 18 syndrome.
Cereda A, Carey JC. Cereda A, et al. Orphanet J Rare Dis. 2012 Oct 23;7:81. doi: 10.1186/1750-1172-7-81. Orphanet J Rare Dis. 2012. PMID: 23088440 Free PMC article. Review.
Despite the well known infant mortality, approximately 50% of babies with trisomy 18 live longer than 1 week and about 5-10% of children beyond the first year. The major causes of death include central apnea, cardiac failure due to cardiac malformations, respiratory insuff …
Despite the well known infant mortality, approximately 50% of babies with trisomy 18 live longer than 1 week and about 5-10% of children bey …
Congenital central hypoventilation syndrome: diagnosis and management.
Maloney MA, Kun SS, Keens TG, Perez IA. Maloney MA, et al. Expert Rev Respir Med. 2018 Apr;12(4):283-292. doi: 10.1080/17476348.2018.1445970. Epub 2018 Feb 28. Expert Rev Respir Med. 2018. PMID: 29486608 Review.
Congenital central hypoventilation syndrome (CCHS) is a rare disorder defined by a failure in autonomic control of breathing secondary to mutations of the PHOX2B gene. ...There is currently no pharmacologic treatment proven effective in improving disease-rela …
Congenital central hypoventilation syndrome (CCHS) is a rare disorder defined by a failure in autonomic control of brea …
Congenital Central Hypoventilation Syndrome and Disorders of Control of Ventilation.
Kasi AS, Perez IA. Kasi AS, et al. Clin Chest Med. 2024 Sep;45(3):663-673. doi: 10.1016/j.ccm.2024.02.018. Clin Chest Med. 2024. PMID: 39069329 Review.
Congenital disorders of ventilatory control typically manifest as central apneas, periodic breathing, and hypoventilation in the neonatal period, but some may present at a later age. ...This article discusses the presentation, pathophysiology, evaluation, and …
Congenital disorders of ventilatory control typically manifest as central apneas, periodic breathing, and hypoventilation …
Rapid-onset obesity with hypothalamic dysfunction, hypoventilation, and autonomic dysregulation (ROHHAD): a collaborative review of the current understanding.
Khaytin I, Victor AK, Barclay SF, Benson LA, Slattery SM, Rand CM, Kurek KC, Weese-Mayer DE. Khaytin I, et al. Clin Auton Res. 2023 Jun;33(3):251-268. doi: 10.1007/s10286-023-00936-y. Epub 2023 May 10. Clin Auton Res. 2023. PMID: 37162653 Review.
PURPOSE: To provide an overview of the discovery, presentation, and management of Rapid-onset Obesity with Hypothalamic dysfunction, Hypoventilation, and Autonomic Dysregulation (ROHHAD). To discuss a search for causative etiology spanning multiple disciplines and continen …
PURPOSE: To provide an overview of the discovery, presentation, and management of Rapid-onset Obesity with Hypothalamic dysfunction, Hypo …
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.
These cells are thought to function as central respiratory chemoreceptors, i.e., the mechanism by which brain Pco2 regulates breathing. ...Murine models of congenital central hypoventilation syndrome designed with PHOX2B mutations have suggested RTN ne …
These cells are thought to function as central respiratory chemoreceptors, i.e., the mechanism by which brain Pco2 regulates breathin …
Central respiratory chemoreception.
Guyenet PG, Bayliss DA. Guyenet PG, et al. Handb Clin Neurol. 2022;188:37-72. doi: 10.1016/B978-0-323-91534-2.00007-2. Handb Clin Neurol. 2022. PMID: 35965033 Free PMC article. Review.
RTN inactivity (periodic or sustained) contributes to periodic breathing and, likely, to central sleep apnea. RTN development relies on transcription factors Egr2, Phox2b, Lbx1, and Atoh1. PHOX2B mutations cause congenital central hypoventilation syndr …
RTN inactivity (periodic or sustained) contributes to periodic breathing and, likely, to central sleep apnea. RTN development relies …
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) receptors in th …
Congenital central hypoventilation syndrome (CCHS), known colloquially as Ondine's curse, is a rare disorder characteri …
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 syndrome and rapid- …
Control of breathing in children varies with age and sleep state. There is overlap between central hypoventilation, autonomic …
129 results