Photo from wikipedia
Sign Up to like & get
recommendations!
0
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
Photo from wikipedia
Sign Up to like & get
recommendations!
1
Published in 2022 at "Pediatric Pulmonology"
DOI: 10.1002/ppul.25973
Abstract: 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. A broad…
read more here.
Keywords:
hypoventilation syndrome;
congenital central;
central hypoventilation;
nih toolbox ... See more keywords
Photo from wikipedia
Sign Up to like & get
recommendations!
2
Published in 2023 at "Pediatric Pulmonology"
DOI: 10.1002/ppul.26399
Abstract: Patients with congenital central hypoventilation syndrome (CCHS) require long‐term ventilation to ensure gas exchange and to prevent deleterious consequences for neurocognitive development. Two ventilation modes may be used for these patients depending on their tolerance,…
read more here.
Keywords:
hypoventilation syndrome;
congenital central;
central hypoventilation;
decannulation congenital ... See more keywords
Photo from wikipedia
Sign Up to like & get
recommendations!
1
Published in 2017 at "Anales De Pediatria"
DOI: 10.1016/j.anpede.2016.05.006
Abstract: Abstract Introduction Congenital central hypoventilation syndrome (CCHS) is a very rare genetic disease. In 2012 the European Central Hypoventilation Syndrome (EuCHS) Consortium created an online patient registry in order to improve care. Aim To determine…
read more here.
Keywords:
spanish patients;
hypoventilation syndrome;
central hypoventilation;
registry ... See more keywords
Photo from wikipedia
Sign Up to like & get
recommendations!
1
Published in 2017 at "Anales de pediatria"
DOI: 10.1016/j.anpedi.2016.05.008
Abstract: INTRODUCTION Congenital Central Hypoventilation Syndrome (CCHS) is a very rare genetic disease. In 2012 the European Central Hypoventilation Syndrome (EuCHS) Consortium created an online patient registry in order to improve care. AIM To determine the…
read more here.
Keywords:
spanish patients;
hypoventilation syndrome;
central hypoventilation;
registry ... See more keywords
Photo from wikipedia
Sign Up to like & get
recommendations!
0
Published in 2022 at "AJP Reports"
DOI: 10.1055/a-1883-0140
Abstract: We present a neonate with early onset apnea and bradycardia in the absence of primary cardiorespiratory and central nervous system disorders that eventually required chronic ventilator support starting at 6 hours of life. Molecular testing of…
read more here.
Keywords:
hypoventilation syndrome;
congenital central;
central hypoventilation;
newborn infant ... See more keywords
Photo from wikipedia
Sign Up to like & get
recommendations!
2
Published in 2023 at "SLEEP"
DOI: 10.1093/sleep/zsad077.0803
Abstract: Congenital central hypoventilation syndrome (CCHS) is a rare genetic disease affecting control of breathing necessitating lifelong assisted ventilation (AV) via noninvasive positive pressure ventilation (NPPV), diaphragm pacing (DP), or positive pressure ventilation via tracheostomy (PPV-T).…
read more here.
Keywords:
patients cchs;
hypoventilation syndrome;
congenital central;
sleep patterns ... See more keywords
Photo from wikipedia
Sign Up to like & get
recommendations!
0
Published in 2019 at "Journal of Neurosurgical Anesthesiology"
DOI: 10.1097/ana.0000000000000491
Abstract: distress, followed by bradycardia and cardiac arrest. She was successfully revived and shifted to intensive care unit on ventilator support. In the intensive care unit the patient was hemodynamically stable. A 12-lead electrocardiogram showed sinus…
read more here.
Keywords:
unmasked propofol;
acquired central;
syndrome unmasked;
central hypoventilation ... See more keywords
Sign Up to like & get
recommendations!
0
Published in 2020 at "Journal of Neuroimaging"
DOI: 10.1111/jon.12765
Abstract: The brainstem plays a key role in the control of respiration. Strokes involving the lateral medulla can rarely produce a central hypoventilation syndrome (CHS) characterized by loss of automatic respiration called Ondine's curse. In this…
read more here.
Keywords:
central hypoventilation;
lateral medullary;
medullary infarction;
hypoventilation syndrome ... See more keywords
Photo from wikipedia
Sign Up to like & get
recommendations!
0
Published in 2019 at "Pediatrics International"
DOI: 10.1111/ped.13812
Abstract: Congenital central hypoventilation syndrome (CCHS) is caused by mutation of paird‐like homeobox 2B (PHOX2B). Approximately 90% of patients were found to carry polyalanine repeat expansion mutation (PARM), and the remaining 10% had non‐PARM (NPARM). In…
read more here.
Keywords:
congenital central;
central hypoventilation;
hypoventilation;
phox2b ... See more keywords
Photo from wikipedia
Sign Up to like & get
recommendations!
0
Published in 2021 at "BMJ Case Reports"
DOI: 10.1136/bcr-2021-244679
Abstract: Congenital central hypoventilation syndrome (CCHS) is an uncommon genetic disease characterised by an autonomic nervous system dysfunction that affects ventilatory homeostasis. Involvement of other systems is also described, mainly cardiovascular, gastrointestinal and central nervous systems.…
read more here.
Keywords:
apnoea;
congenital central;
central hypoventilation;
life ... See more keywords