Hypoventilation Syndromes

Papers of particular interest, published recently, have been highlighted as: • Of importance •• Of major importance

1. 1.
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   Chin TW, Chen JJ, Maharaj S. Congenital central hypoventilation syndrome. Congenital central hypoventilation syndrome: background, pathophysiology, epidemiology. In: http://emedicine.medscape.com/article/1002927-overview. (2014). Accessed Jan 28^th 2017.
3. 3.
   Boing S, Randerath W. Chronic hypoventilation syndromes and sleep-related hypoventilation. Journal of Thoracic Disease. 2015;7:1273–85. doi: 10.3978/j.issn.2072-1439.2015.06.10.PubMedPubMedCentralGoogle Scholar
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7. 7.
   Straus C, Trang H, Becquemin M-H, Touraine P, Similowski T. Chemosensitivity recovery in Ondine’s curse syndrome under treatment with desogestrel. Respir Physiol Neurobiol. 2010;171:171–4. doi: 10.1016/j.resp.2010.03.015.CrossRefPubMedGoogle Scholar
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   •• Joubert F, Perrin-Terrin A-S, Verkaeren E, Cardot P, Fiamma M-N, Frugière A, Rivals I, Similowski T, Straus C, Bodineau L. Desogestrel enhances ventilation in ondine patients: animal data involving serotoninergic systems. Neuropharmacology. 2016;107:339–50. doi: 10.1016/j.neuropharm.2016.03.041. Desogestrel enhances ventilation in Ondine patients: animal data involving serotoninergic systems. This highlights newer medical treatments for hypoventilation which may be a possible alternative to PAP therapy or may be used in conjunction with PAP therapy for added benefit CrossRefPubMedGoogle Scholar
9. 9.
   •• Zanni ED, Bachetti T, Parodi S, Bocca P, Prigione I, Lascio SD, Fornasari D, Ravazzolo R, Ceccherini I. In vitro drug treatments reduce the deleterious effects of aggregates containing polyAla expanded PHOX2B proteins. Neurobiol Dis. 2012;45:508–18. doi: 10.1016/j.nbd.2011.09.007. In vitro drug treatments reduce the deleterious effects of aggregates containing polyAla expanded PHOX2B proteins. I highlighted this despite being an older study as it represents a possible cure for the disease using targeted therapy. It is unclear as to how long the effect of treatment lasts and the effect on hypoventilation in human subjects. Further testing would be prudent. CrossRefPubMedGoogle Scholar
10. 10.
    Praud J-P. Central hypoventilation syndrome. Paediatr Respir Rev. 2010; doi: 10.1016/s1526-0542(10)70069-5.PubMedGoogle Scholar
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12. 12.
    Ize-Ludlow D, Gray JA, Sperling MA, Berry-Kravis EM, Milunsky JM, Farooqi IS, Rand CM, Weese-Mayer DE. Rapid-onset obesity with hypothalamic dysfunction, hypoventilation, and autonomic dysregulation presenting in childhood. Pediatrics. 2007;120 doi: 10.1542/peds.2006-3324.
13. 13.
    Reppucci D, Hamilton J, Yeh EA, Katz S, Al-Saleh S, Narang I. ROHHAD syndrome and evolution of sleep disordered breathing. Orphanet Journal of Rare Diseases. 2016;11:106. doi: 10.1186/s13023-016-0484-1.CrossRefPubMedPubMedCentralGoogle Scholar
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15. 15.
    Evrensel A, Erensoy H, Ceylan M. Psychiatric symptoms in rapid-onset obesity with hypothalamic dysfunction, hypoventilation, and autonomic dysregulation syndrome and its treatment: a case report. Chin Med J. 2016;129:242–3. doi: 10.4103/0366-6999.173550.CrossRefPubMedPubMedCentralGoogle Scholar
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38. 38.
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