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
Neurocognitive monitoring in congenital central hypoventilation syndrome with the NIH Toolbox®
Sign Up to like & getrecommendations! 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
Decannulation in congenital central hypoventilation syndrome
Sign Up to like & getrecommendations! 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
Residual hypoxemia in obesity-hypoventilation syndrome: quantification of the ventilation/perfusion imbalance
Sign Up to like & getrecommendations! Published in 2021 at "Sleep and Breathing"
DOI: 10.1007/s11325-021-02484-z
Abstract: The obesity-hypoventilation syndrome (OHS) is defined by the presence of obesity (BMI greater than 30 kg/m2) and daytime hypercapnia, in the absence of other situations that could explain the alveolar hypoventilation. Treatment consists of applying… read more here.
Keywords: hypoxemia; obesity hypoventilation; ventilation; obesity ... See more keywords
Spanish patients with central hypoventilation syndrome included in the European Registry. The 2015 data
Sign Up to like & getrecommendations! 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
[Spanish patients with central hypoventilation syndrome included in the European Registry. The 2015 data].
Sign Up to like & getrecommendations! 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
Effectiveness of different treatments in obesity hypoventilation syndrome.
Sign Up to like & getrecommendations! Published in 2020 at "Pulmonology"
DOI: 10.1016/j.pulmoe.2020.05.012
Abstract: Obesity hypoventilation syndrome (OHS) is an undesirable consequence of obesity, defined as daytime hypoventilation, sleep disorder breathing and obesity; during the past few years the prevalence of extreme obesity has markedly increased worldwide consequently increasing… read more here.
Keywords: hypoventilation; obesity hypoventilation; effectiveness different; hypoventilation syndrome ... See more keywords
A Newborn Infant with Congenital Central Hypoventilation Syndrome and Pupillary Abnormalities: A Literature Review
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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
Leptin-mediated neural targets in obesity hypoventilation syndrome.
Sign Up to like & getrecommendations! Published in 2022 at "Sleep"
DOI: 10.1093/sleep/zsac153
Abstract: Obesity hypoventilation syndrome (OHS) is defined as daytime hypercapnia in obese individuals in the absence of other underlying causes. In the United States OHS is present in 10-20% of obese patients with obstructive sleep apnea… read more here.
Keywords: obesity hypoventilation; hypoventilation syndrome; leptin; hypoventilation ... See more keywords
0803 Sleep Patterns in Patients with Congenital Central Hypoventilation Syndrome and Their Parents
Sign Up to like & getrecommendations! 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
Acquired Central Hypoventilation Syndrome Unmasked by Propofol Sedation.
Sign Up to like & getrecommendations! 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