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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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Factors like hypoxia during birth, in-breeding, genetic or teratogenic defects and malformations, maternal disturbances, vaccination status of the mother, low birthweight, environmental conditions or infectious agents predispose puppies to life-threatening conditions.
Approximately 90% of all deaths in hypoxaemic pups occur during the first 2 days. Of 183 pups with hypoxia, 63 died, 92.7% of them within 48 h after birth. Among infectious causes, bacterial infection is the most common cause of neonatal mortality.
1 Νοε 2013 · Congenital central hypoventilation syndrome (CCHS) is characterized by hypoventilation during sleep and impaired ventilatory responses to hypercapnia and hypoxemia. Most cases are sporadic and caused by de novo PHOX2B gene mutations, which are usually polyalanine repeat expansions.
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 ...
28 Φεβ 2018 · Introduction: Congenital central hypoventilation syndrome (CCHS) is a rare disorder defined by a failure in autonomic control of breathing secondary to mutations of the PHOX2B gene.
Neonatal-onset CCHS is characterized by apparent hypoventilation with monotonous respiratory rates and shallow breathing either during sleep only or while awake as well as asleep; ANSD including decreased heart rate beat-to-beat variability and sinus pauses; altered temperature regulation; and altered pupillary response to light.
