Journal ArticleDOI
Residual chemosensitivity to ventilatory challenges in genotyped congenital central hypoventilation syndrome
Michael S. Carroll,Pallavi P. Patwari,Pallavi P. Patwari,Anna S. Kenny,Cindy D. Brogadir,Tracey M. Stewart,Debra E. Weese-Mayer,Debra E. Weese-Mayer +7 more
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TLDR
R residual cardiorespiratory responses suggest partial preservation of central nervous system networks that could provide a fulcrum for potential pharmacological interventions.Abstract:
Congenital central hypoventilation syndrome (CCHS) is a neurodevelopmental disorder characterized by life-threatening hypoventilation, possibly resulting from disruption of central chemosensory int...read more
Citations
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Journal ArticleDOI
The Retrotrapezoid Nucleus: Central Chemoreceptor and Regulator of Breathing Automaticity
Patrice G. Guyenet,Ruth L. Stornetta,George M. P. R. Souza,Stephen B. G. Abbott,Yingtang Shi,Douglas A. Bayliss +5 more
TL;DR: Several mechanisms that contribute to the activation of RTN neurons by CO2in vivo are discussed: cell-autonomous effects of protons; paracrine effects of pH mediated by surrounding astrocytes and blood vessels; and excitatory inputs from other CO2-responsive CNS neurons.
Journal ArticleDOI
Congenital central hypoventilation syndrome: a bedside-to-bench success story for advancing early diagnosis and treatment and improved survival and quality of life
Debra E. Weese-Mayer,Casey M. Rand,Amy Zhou,Michael S. Carroll,Michael S. Carroll,Carl E. Hunt +5 more
TL;DR: From an initial guarantee of early mortality or severe neurologic morbidity in survivors, CCHS children can now be diagnosed early and managed effectively, achieving dramatically improved quality of life as adults.
OtherDOI
Integration of Central and Peripheral Respiratory Chemoreflexes
TL;DR: Critically review pertinent literature related to O2 and CO2 sensing from the perspective of system integration and concludes that either the nature of combination is not important to system responses, contrary to what has long been supposed, or that the nature is more malleable than previously assumed, changing depending on physiological state and/or respiratory requirement.
Journal ArticleDOI
A wireless, skin-interfaced biosensor for cerebral hemodynamic monitoring in pediatric care
Alina Y. Rwei,Alina Y. Rwei,Wei Lu,Changsheng Wu,Kelia A. Human,Emily Suen,Daniel Franklin,Monica Fabiani,Gabriele Gratton,Zhaoqian Xie,Yujun Deng,Sung Soo Kwak,Sung Soo Kwak,Lizhu Li,Carol Ge Gu,Alanna Liu,Casey M. Rand,Tracey M. Stewart,Yonggang Huang,Debra E. Weese-Mayer,Debra E. Weese-Mayer,John A. Rogers +21 more
TL;DR: A wireless, miniaturized, and mechanically soft, flexible device that supports measurements quantitatively comparable to existing clinical standards has the potential to substantially enhance the quality of pediatric care across a wide range of conditions and use scenarios.
Journal ArticleDOI
Breathing regulation and blood gas homeostasis after near complete lesions of the retrotrapezoid nucleus in adult rats
George M. P. R. Souza,Roy Kanbar,Daniel S. Stornetta,Stephen B. G. Abbott,Ruth L. Stornetta,Patrice G. Guyenet +5 more
TL;DR: RTN lesions in rats virtually eliminated the central respiratory chemoreflex (CRC) while preserving the cardiorespiratory responses to hypoxia; the relationship between CRC and number of surviving RTN Nmb neurons was an inverse exponential.
References
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Journal ArticleDOI
Polyalanine expansion and frameshift mutations of the paired-like homeobox gene PHOX2B in congenital central hypoventilation syndrome
Jeanne Amiel,Béatrice Laudier,Tania Attié-Bitach,Ha Trang,Loïc de Pontual,Blanca Gener,Delphine Trochet,Heather C. Etchevers,Pierre F. Ray,Michel Simonneau,Michel Vekemans,Arnold Munnich,Claude Gaultier,Stanislas Lyonnet +13 more
TL;DR: An essential role of PHOX2B in the normal patterning of the autonomous ventilation system and, more generally, of the autonomic nervous system in humans is supported.
Journal ArticleDOI
An Official ATS Clinical Policy Statement: Congenital Central Hypoventilation Syndrome: Genetic Basis, Diagnosis, and Management
Debra E. Weese-Mayer,Elizabeth Berry-Kravis,Isabella Ceccherini,Thomas G. Keens,Darius A. Loghmanee,Ha Trang +5 more
TL;DR: The importance of PHOX2B testing in diagnosing and treating patients with CCHS is demonstrated and a review of pertinent literature allowed for the development of a document that summarizes recent advances in understanding CCHs and expert interpretation of the evidence for management of affected patients.
Journal ArticleDOI
Idiopathic congenital central hypoventilation syndrome: Analysis of genes pertinent to early autonomic nervous system embryologic development and identification of mutations in PHOX2b
Debra E. Weese-Mayer,Elizabeth Berry-Kravis,Lili Zhou,Brion S. Maher,Jean M. Silvestri,Mark E. Curran,Mary L. Marazita +6 more
TL;DR: Genes pertinent to early embryologic development of the ANS including mammalian achaete‐scute homolog‐1 (MASH1), bone morphogenic protein‐2 (BMP2), engrailed‐1(EN1), TLX3, endothelin converting enzyme‐ 1 (ECE1), endothelins‐1 ('EDN1), PHOX2a, andPHOX2b are studied in 67 probands with CCHS, and gender‐
Journal ArticleDOI
Failure of automatic control of ventilation (Ondine's curse). Report of an infant born with this syndrome and review of the literature.
Journal ArticleDOI
Expression of Phox2b by Brainstem Neurons Involved in Chemosensory Integration in the Adult Rat
Ruth L. Stornetta,Thiago S. Moreira,Ana C. Takakura,Bong Jin Kang,Darryl A. Chang,Gavin H. West,Jean-François Brunet,Daniel K. Mulkey,Douglas A. Bayliss,Patrice G. Guyenet +9 more
TL;DR: Observations suggest that Phox2b is expressed by an uninterrupted chain of neurons involved in the integration of peripheral and central chemoreception, which could explain why Phox1b mutations disrupt breathing automaticity during sleep without causing major impairment of respiration during waking.