Structural and functional differences in PHOX2B frameshift mutations underlie isolated or syndromic congenital central hypoventilation syndrome
Sign Up to like & getrecommendations! Published in 2018 at "Human Mutation"
DOI: 10.1002/humu.23365
Abstract: Heterozygous mutations in the PHOX2B gene are causative of congenital central hypoventilation syndrome (CCHS), a neurocristopathy characterized by defective autonomic control of breathing due to the impaired differentiation of neural crest cells. Among PHOX2B mutations,… read more here.
Keywords: syndromic cchs; congenital central; central hypoventilation; cchs ... See more keywords
Major depressive episodes and mortality in the Canadian household population.
Sign Up to like & getrecommendations! Published in 2019 at "Journal of affective disorders"
DOI: 10.1016/j.jad.2018.08.030
Abstract: OBJECTIVE To explore the association between major depressive episodes (MDE) and subsequent mortality in a representative sample of the general household population, with adjustment for other determinants of mortality. METHOD The analysis used four datasets… read more here.
Keywords: household population; mde; major depressive; mortality ... See more keywords
0901 An odd presentation of a hidden curse
Sign Up to like & getrecommendations! Published in 2023 at "SLEEP"
DOI: 10.1093/sleep/zsad077.0901
Abstract: Congenital central hypoventilation syndrome (CCHS) is a rare disorder of respiratory deficiency due to a mutation in the PHOX2B gene. Clinical presentation may be mild in certain individuals due to different levels of ventilatory dysregulation.… read more here.
Keywords: cchs; presentation; ventilatory; patient ... See more keywords
Cerebral Autoregulation During Orthostatic Challenge in Congenital Central Hypoventilation Syndrome.
Sign Up to like & getrecommendations! Published in 2021 at "American journal of respiratory and critical care medicine"
DOI: 10.1164/rccm.202103-0732oc
Abstract: RATIONALE Congenital Central Hypoventilation Syndrome (CCHS) is a rare autonomic disorder with altered regulation of breathing, heart rate (HR), and blood pressure (BP). Aberrant cerebral oxygenation in response to hypercapnia/hypoxia in CCHS raises concern that… read more here.
Keywords: cchs; congenital central; cerebral autoregulation; central hypoventilation ... See more keywords