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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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12 Αυγ 2023 · The CSF findings expected in bacterial, viral, and fungal meningitis are listed in the chart: Expected CSF findings in bacterial versus viral versus fungal meningitis. Ideally, the CSF sample should be obtained before initiating antimicrobials.
28 Ιαν 2004 · The diagnosis of congenital central hypoventilation syndrome (CCHS) is established in a proband with suggestive findings and a heterozygous PHOX2B pathogenic variant (or likely pathogenic variant) identified on molecular genetic testing (see Table 1).
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.
PMID: 27062097. DOI: 10.1016/j.cmi.2016.01.007. No abstract available. Keywords: Antibiotic; ESCMID; Neisseria meningitidis; Streptococcus pneumoniae; bacterial meningitis; guideline. Publication types. Practice Guideline. MeSH terms. Anti-Bacterial Agents / therapeutic use. Community-Acquired Infections. Humans. Meningitis, Bacterial / diagnosis*
Congenital central hypoventilation syndrome (CCHS) is a rare neurocristopathy, caused by mutations in the paired-like homeobox gene PHOX2B, which alters control of breathing and autonomic nervous system regulation, necessitating artificial ventilation as life-support.
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.
