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
Congenital central pulmonary artery anomalies: Part 2
Sign Up to like & getrecommendations! Published in 2020 at "Pediatric Radiology"
DOI: 10.1007/s00247-020-04703-3
Abstract: There is a broad spectrum of congenital anomalies of the central pulmonary arteries including abnormalities of development, origin, course and caliber. These anomalies incorporate simple lesions such as isolated pulmonary valve stenosis to very complex… read more here.
Keywords: part; congenital central; central pulmonary; artery anomalies ... See more keywords
A Newborn Infant with Congenital Central Hypoventilation Syndrome and Pupillary Abnormalities: A Literature Review
Sign Up to like & getrecommendations! 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
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
Neurogenic hypertension characterizes children with congenital central hypoventilation syndrome and is aggravated by alveolar hypoventilation during sleep.
Sign Up to like & getrecommendations! Published in 2023 at "Journal of hypertension"
DOI: 10.1097/hjh.0000000000003475
Abstract: OBJECTIVES Autonomic nervous system (ANS) dysfunction characterizes congenital central hypoventilation syndrome (CCHS). The objectives were to describe ambulatory blood pressure monitoring (ABPM) of children with CCHS, to assess cardiac ANS dysfunction as compared with control… read more here.
Keywords: hypertension; congenital central; ans dysfunction; night ... See more keywords
Neonatal apneic phenotype in a murine congenital central hypoventilation syndrome model is induced through non‐cell autonomous developmental mechanisms
Sign Up to like & getrecommendations! Published in 2020 at "Brain Pathology"
DOI: 10.1111/bpa.12877
Abstract: Congenital central hypoventilation syndrome (CCHS) represents a rare genetic disorder usually caused by mutations in the homeodomain transcription factor PHOX2B. Some CCHS patients suffer mainly from deficiencies in CO2 and/or O2 respiratory chemoreflex, whereas other… read more here.
Keywords: murine; congenital central; visceral motor; non cell ... See more keywords
Novel PHOX2B mutations in congenital central hypoventilation syndrome
Sign Up to like & getrecommendations! 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
Congenital central hypoventilation syndrome: a life-threatening cause of neonatal apnoea
Sign Up to like & getrecommendations! 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
Detecting Congenital Central Hypothyroidism by Newborn Screening: Difficulty in Distinguishing from Congenital Thyroxine-Binding Globulin Deficiency
Sign Up to like & getrecommendations! Published in 2017 at "Hormone Research in Paediatrics"
DOI: 10.1159/000479367
Abstract: Background/Aims: Congenital central hypothyroidism (CH-C) can be detected on newborn screening (NBS) by programs using thyroxine (T4)-reflex thyroid-stimulating hormone (TSH) test approach. CH-C must be distinguished from T4-binding globulin (TBG) deficiency. We sought to determine… read more here.
Keywords: central hypothyroidism; congenital central; binding globulin; tbg deficiency ... See more keywords