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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...
4 Αυγ 2017 · The primary cause of CCHS is the mutation of the paired-like homeobox PHO2XB gene, found in 90% of the patients. This mutation not only affects breathing but also drives neurological abnormalities such as autonomic and neurocognitive dysfunction. Though typically congenital, there have been late-onset (i.e., acquired) cases reported.
Background: Congenital central hypoventilation syndrome (CCHS) is characterized by alveolar hypoventilation and autonomic dysregulation. Purpose: (1) To demonstrate the importance of PHOX2B testing in diagnosing and treating patients with CCHS, (2) to summarize recent advances in understanding how mutations in the PHOX2B gene lead to the CCHS ...
Congenital central alveolar hypoventilation in the absence of neuromuscular or lung disease is characterized by normal ventilation while the patient is awake but hypoventilation with normal respiratory rates and shallow breathing (di- minished tidal volume) during sleep. The severity of hypo-
27 Σεπ 2016 · Congenital Central Hypoventilation Syndrome (CCHS) patients characteristically present with diminutive tidal volumes and monotonous respiratory rates asleep and awake, with more profound...
18 Αυγ 2016 · Congenital central hypoventilation syndrome (CCHS) is a rare genetic disorder with failure of central control of breathing and of the autonomic nervous system function due to a mutation in the paired-like homeobox 2B (PHOX2B) gene.
