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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...
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Introduction. Hirschsprung’s disease is a congenital defect...
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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.
22 Μαρ 2024 · In children, the most common cause of hypoventilation during sleep is obstructive sleep apnea (OSA), which is discussed in separate topic reviews. (See "Evaluation of suspected obstructive sleep apnea in children" and "Management of obstructive sleep apnea in children".)
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 CO2 receptors in the medulla.
14 Μαρ 2023 · What causes congenital central hypoventilation syndrome? A mutation in the PHOX2B gene causes CCHS. The gene helps make a protein important to the production of nerve cells during fetal development. Most cases of CCHS involve a sporadic (new, sudden) mutation, but the mutation can be inherited.
2 Ιουλ 2024 · Congenital central hypoventilation syndrome (CCHS), also known as Ondine’s curse, is a rare neurological condition characterized by alveolar hypoventilation and autonomic nervous system dysregulation. CHHS is a life-threatening condition that causes an oxygen shortage and an accumulation of carbon dioxide in the blood.
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...
