Journal ArticleDOI
PHOX2B mutations and ventilatory control.
Jorge Gallego,Stéphane Dauger +1 more
TLDR
The generation of mouse models of CCHS provides tools for evaluating treatments aimed at alleviating both the respiratory symptoms and all other autonomic symptoms of C CHS.About:
This article is published in Respiratory Physiology & Neurobiology.The article was published on 2008-12-10. It has received 25 citations till now. The article focuses on the topics: Congenital central hypoventilation syndrome & Hypoventilation.read more
Citations
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Journal ArticleDOI
Development of ventilatory control in infants
John L. Carroll,Amit Agarwal +1 more
TL;DR: Clinical care may be greatly enhanced by increased awareness of ventilatory control maturation and related disorders, including rare disorders like congenital central hypoventilation syndrome.
OtherDOI
Neuronal Control of Breathing: Sex and Stress Hormones
Mary Behan,Richard Kinkead +1 more
TL;DR: The role of sex hormones in respiratory control throughout life is reviewed, emphasizing how natural fluctuations in hormones are reflected in ventilatory metrics and how disruption of their endogenous cycle can predispose to respiratory disease.
Journal ArticleDOI
Breathing with Phox2b
TL;DR: Advances achieved by studying the homeodomain factor Phox2b, a transcriptional determinant of neuronal identity in the central and peripheral nervous systems, are reviewed, highlighting a key role of this transcription factor in setting up the circuits for breathing automaticity.
Journal ArticleDOI
The genetics of obstructive sleep apnoea.
TL;DR: As with other common disorders, OSAS is likely to result from multiple gene–gene interactions occurring in a suitable environment and the application of modern genetic investigative techniques, such as genome-wide association studies, may facilitate new discoveries in this field.
Journal ArticleDOI
Rapid-onset obesity with hypothalamic dysfunction, hypoventilation and autonomic dysregulation (ROHHAD): a case with additional features and review of the literature.
TL;DR: The difficulty of achieving the diagnosis of ROHHAD syndrome and its overlap with other well-established disease entities are highlighted and the mortality and morbidity resulting from the high incidence of cardiorespiratory arrest may be prevented by early ventilatory support.
References
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Journal ArticleDOI
Pre-Botzinger Complex: A Brainstem Region That May Generate Respiratory Rhythm in Mammals
TL;DR: The respiratory rhythm in the mammalian neonatal nervous system may result from a population of conditional bursting pacemaker neurons in the pre-Bötzinger Complex.
Journal ArticleDOI
Hirschsprung disease, associated syndromes and genetics: a review
Jeanne Amiel,Stanislas Lyonnet +1 more
TL;DR: Isolated HSCR appears to be a non-Mendelian malformation with low, sex-dependent penetrance, and variable expression according to the length of the aganglionic segment, which stands as a model for genetic disorders with complex patterns of inheritance.
Journal ArticleDOI
Caffeine Therapy for Apnea of Prematurity
Barbara Schmidt,Robin S. Roberts,Peter G Davis,Lex W. Doyle,Keith J. Barrington,Arne Ohlsson,Alfonso Solimano,Win Tin +7 more
TL;DR: Caffeine therapy for apnea of prematurity reduces the rate of bronchopulmonary dysplasia in infants with very low birth weight and reduced weight gain temporarily.
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The homeobox gene Phox2b is essential for the development of autonomic neural crest derivatives
TL;DR: It is shown that all autonomic ganglia fail to form properly and degenerate in mice lacking the homeodomain transcription factor Phox2b, as do the three cranial sensory ganglia that are part of the autonomic reflex circuits.
Journal ArticleDOI
Looking for inspiration: new perspectives on respiratory rhythm.
TL;DR: New evidence is evaluated and interpreted for two separate brainstem respiratory oscillators and for the essential role of emergent network properties in rhythm generation in mammalian respiratory rhythm generation.