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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 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 ...
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.
28 Ιαν 2004 · Diagnosis. The 2010 American Thoracic Society Statement on congenital central hypoventilation syndrome (CCHS) presents the current consensus clinical diagnostic criteria for CCHS (neonatal-onset and LO-CCHS [later-onset CCHS]) [Weese-Mayer et al 2010] (full text).
14 Μαρ 2023 · What are the symptoms of congenital central hypoventilation syndrome? The first symptoms of CCHS usually appear shortly after birth and may include: Bluish skin or lips (cyanosis). Hypoventilation when sleeping. But mild cases may not be noticed until later in life. Other signs may include:
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).
Infants born with CCHS may have the following symptoms: Poor breathing or complete lack of spontaneous breathing, especially during sleep. Abnormal pupils. Feeding difficulty due to acid reflux and decreased intestinal motility. Absent or impaired bowel function (Hirschsprung’s disease) Diagnosis.
