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21 Σεπ 2020 · 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. Paired-like homeobox 2B (PHOX2B) mutations are found in most of the patients with CCHS.
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Congenital Central Hypoventilation Syndrome (CCHS) is a rare...
- An Institutional Experience
Introduction. Hirschsprung’s disease is a congenital defect...
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28 Φεβ 2018 · Congenital central hypoventilation syndrome (CCHS) is a rare genetic disorder defined by a failure in autonomic control of breathing secondary to mutations in the paired-like homeobox (PHOX2B) g...
18 Αυγ 2016 · Congenital central hypoventilation syndrome (CCHS) is a rare genetic disorder of the autonomic nervous system (ANS) due to a mutation in the paired-like homeobox 2B (PHOX2B) gene. 1 CCHS patients usually present in the newborn period with apnea, hypoxemia, and hypercapnia without clinical signs of respiratory compromise that occur and are most ...
Congenital central alveolar hypoventilation in the absence of neuromuscular or lung disease is characterized by normal ventilation while the patient is awake but hypoventilation
4 Αυγ 2017 · 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 the medulla.
Central alveolar hypoventilation disorders denote conditions resulting from underlying neurologic disorders affecting the sensors, the central controller, or the integration of the signals. Such disorders can lead to insufficient ventilation and an increase in PaCO 2 (hypercarbia), as well as a decrease in PaO 2 (hypoxemia).
27 Σεπ 2016 · The “bedside-to-bench” Congenital Central Hypoventilation Syndrome (CCHS) research journey has led to increased phenotypic-genotypic knowledge regarding autonomic nervous system (ANS)...
