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Novel insights into congenital hypoventilation syndrome
David Gozal,Ronald M. Harper +1 more
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TLDR
Three principal issues have become apparent: 1) the autonomic nervous system is involved universally in CCHS cases, albeit to a varying extent; 2) the use of novel functional imaging approaches incorporating refined stimulus paradigms may provide essential research and clinical insights into localization and assessment of neural sites underlying the phenotypic expression of this syndrome.Abstract:
Congenital central hypoventilation syndrome (CCHS) is a rare and unique condition that may prompt unparalleled approaches to the discovery of genes involved in development of cardiorespiratory control and gas exchange homeostasis. Its higher risk of recurrence in families and its association with Hiread more
Citations
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Physiological and Genomic Consequences of Intermittent Hypoxia Invited Review: Physiological and pathophysiological responses to intermittent hypoxia
TL;DR: Neubauer et al. as mentioned in this paper summarized the physiological adaptations to and pathophysiological consequences of intermittent hypoxia with special emphasis given to the pathophysiology associated with obstructive sleep apnea.
Journal ArticleDOI
Invited review: Physiological and pathophysiological responses to intermittent hypoxia.
TL;DR: This mini-review summarizes the physiological adaptations to and pathophysiological consequences of intermittent hypoxia with special emphasis given to the pathophysiology associated with obstructive sleep apnea.
Journal ArticleDOI
Molecular analysis of congenital central hypoventilation syndrome.
Ayako Sasaki,Masayo Kanai,Kazuki Kijima,Kazuhiro Akaba,Motoya Hashimoto,Hisaya Hasegawa,Shinsuke Otaki,Takenobu Koizumi,Satoshi Kusuda,Youhei Ogawa,Keiji Tuchiya,Wakako Yamamoto,Tomohiko Nakamura,Kiyoshi Hayasaka +13 more
TL;DR: The prominent role of mutations in the PHOX2B gene in the pathogenesis of CCHS is confirmed and the analysis of more cases and further candidates concerned with the development of the autonomic nervous system is required.
Journal ArticleDOI
Evidence for a conserved function in synapse formation reveals Phr1 as a candidate gene for respiratory failure in newborn mice
Robert W. Burgess,Kevin A. Peterson,Michael J. Johnson,Jeffrey J. Roix,Ian C. Welsh,Timothy P. O'Brien +5 more
TL;DR: It is proposed that Phr1 plays a conserved role in synaptic development and is a candidate gene for respiratory distress and ventilatory disorders that arise from defective neuronal control of breathing.
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Congenital central hypoventilation syndrome: not just another rare disorder
Maida Lynn Chen,Thomas G. Keens +1 more
TL;DR: All patients with CCHS require lifelong ventilatory support during sleep but some will be able to maintain adequate ventilation without assistance while awake once past infancy, however, some CCHs patients require ventilatories support for 24h/day.
References
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Journal ArticleDOI
Oxygenation-sensitive contrast in magnetic resonance image of rodent brain at high magnetic fields.
TL;DR: At high magnetic fields (7 and 8.4 T), water proton magnetic resonance images of brains of live mice and rats under pentobarbital anesthetization have been measured by a gradient echo pulse sequence with a spatial resolution of 65 × 65‐ μm pixel size and 700‐μm slice thickness.
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Mutations of the RET proto-oncogene in Hirschsprung's disease
Patrick Edery,Stanislas Lyonnet,Lois M. Mulligan,Anna Pelet,Eleanore Dow,Laurent Abel,Susan Holder,Claire Nihoul-Fékété,Bruce A.J. Ponder,Arnold Munnich +9 more
TL;DR: No recombination was observed between the disease locus and the locus for the RET proto-oncogene, a protein tyrosine kinase gene expressed in the cells derived from the neural crest, and it is shown that the mutant genotypes segregate with the disease in HSCR families.
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Point mutations affecting the tyrosine kinase domain of the RET proto-oncogene in Hirschsprung's disease
Giovanni Romeo,Patrizia Ronchetto,Yin Luo,Virginia Barone,Marco Seri,Isabella Ceccherini,Barbara Pasini,Renata Bocciardi,Margherita Lerone,Helena Kääriäinen,Giuseppe Martucciello +10 more
TL;DR: The hypothesis that RET, in addition to its potential role in tumorigenesis, plays a critical role in the embryogenesis of the mammalian enteric nervous system is supported.
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Mutation of the endothelin-3 gene in the Waardenburg-Hirschsprung disease (Shah-Waardenburg syndrome)
Patrick Edery,T Attié,Jeanne Amiel,Anna Pelet,Charis Eng,Robert M. W. Hofstra,Helene Martelli,Christelle Bidaud,Arnold Munnich,Stanislas Lyonnet +9 more
TL;DR: A homozygous substitution/deletion mutation of the EDA/3 gene is reported in a WS-HSCR patient, supporting the view that the endothelin-signaling pathways play a major role in the development of neural crests.