Central hypoventilation syndrome
Conscious sedation with dexmedetomidine for implantation of a phrenic nerve stimulator in a pediatric case of late-onset congenital central hypoventilation syndrome
... The operative procedure was based on a previous report of diaphragm pacing by stimulation of the phrenic nerve with a spinal cord stimulator in patients with central hypoventilation syndrome [8]. ...
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Congenital central hypoventilation syndrome: diagnostic and management challenges
... Congenital central hypoventilation syndrome (CCHS) is a rare genetic disorder with failure of central control of breathing and of the autonomic nervous system function due to a mutation in the ...
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Abnormal auditory pathways in PHOX2B mutation positive congenital central hypoventilation syndrome
... Congenital central hypoventilation syndrome (CCHS) is a rare disease characterized by abnormal autonomic control of breathing resulting in severe alveolar hypoventilation that is most marked ...
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Characterization of Dermatoglyphics in PHOX2B-Confirmed Congenital Central Hypoventilation Syndrome
... congenital central hypoventilation syndrome have char- acteristic variants in the PHOX2B gene (primarily polyalanine expansion muta- ...congenital central hypoventilation ...
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Hypercapneic Arousal Responses in Children With Congenital Central Hypoventilation Syndrome
... Congenital central hypoventilation syndrome (CCHS, Ondine's curse) is a rare disorder of central control of ventilation in which patients hypoventi late primarily during sleep, despite t[r] ...
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A Triple Threat: Down Syndrome, Congenital Central Hypoventilation Syndrome, and Hirschsprung Disease
... 4. Weese-Mayer DE, Berry-Kravis EM, Ceccherini I, Keens TG, Loghmanee DA, Trang H; ATS Congenital Central Hypoventilation Syn- drome Subcommittee. An of fi cial ATS clini- cal policy statement: Congenital ...
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Central Hypoventilation Syndrome in Pyruvate Dehydrogenase Complex Deficiency
... 74:1034-1040; central hypoventilation syndrome, doxap- ram, almitrine, lactic acidosis, pyruvate dehydrogenase complex.. In recent years, more than 50 patients have been reported with va[r] ...
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The genetics of congenital central hypoventilation syndrome: clinical implications
... Abstract: Congenital central hypoventilation syndrome (CCHS) is a rare genetic disorder of the autonomic nervous system (ANS) and respiratory control. This disorder, formerly referred to as Ondine’s ...
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Long-Term Follow-up of Children With Congenital Central Hypoventilation Syndrome
... The purpose of this report is to describe our experience with long-term follow-up of six patients with congenital central hypoventilation syndrome treated with home mechanical ventilatio[r] ...
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Extreme intra familial variability of congenital central hypoventilation syndrome: a case series
... congenital central hypoventilation syndrome, previously thought to be a rare genetic ...congenital central hypoventilation syndrome in the general population is much higher than ...
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"CLINICAL ASPECTS OF CONGENITAL CENTRAL HYPOVENTILATION SYNDROME (ONDINE'S CURSE): A REVIEW" " by Raghvendra*, Satyanand Tyagi, Pramod Yadav, Sunanda Saxena, Rajesh A. Dodia, Tanvi D. Patel, India.
... congenital central hypoventilation syndrome have disorders of central hypoventilation syndrome does not differ from controls, the relative increase above the mean heart rate at ...
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Using non invasive bi level positive airway pressure ventilator via tracheostomy in children with congenital central hypoventilation syndrome: two case reports
... Introduction: Due to the economic downturn in Thailand, two baby girls with congenital central hypoventilation syndrome had to wait for several months to obtain definite diagnosis and long-term ...
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Health-related quality of life in young adults with congenital central hypoventilation syndrome due to PHOX2B mutations: a cross-sectional study
... Background: Congenital central hypoventilation syndrome (CCHS) is a rare genetic disease due to PHOX2B mutations. CCHS patients suffer from many autonomic disorders, dominated clinically by defective ...
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Point Mutation in Exon 12 of the Receptor Tyrosine Kinase Proto-oncogene RET in Ondine-Hirschsprung Syndrome
... 22. Bolk S, Angrist M, Schwartz S, Silvestri JM, Weese-Mayer DE, Chakra- varti A. Congenital central hypoventilation syndrome: mutation analy- sis of the receptor tyrosine kinase RET. Am J Med Genet. ...
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Progressive Paranoid Psychosis in a 20-Year-Old With Central Congenital Hypoventilation Syndrome
... congenital central hypoventilation syndrome presented with recent-onset psychosis, catatonia, and a di- agnosis of ...primary central nervous system ...
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ROHHAD syndrome and evolution of sleep disordered breathing
... nocturnal hypoventilation and autonomic ...Congenital Central Hypoventilation Syndrome ...nocturnal hypoventilation and/or obstructive sleep apnea and/or central apnea as defined ...
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Idiopathic Hypothalamic Dysfunction and Impaired Control of Breathing
... Central hypoventilation syndrome, the most se- vene example of a respiratory control abnormality, may be congenital or acquired.24 In some cases, only sleep ventilation may be impaired, [r] ...
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Normal sleep on mechanical ventilation in adult patients with congenital central alveolar hypoventilation (Ondine’s curse syndrome)
... sleep abnormalities according to a standard polysomno- graphy approach. Normal sleep in this genetically homo- geneous CCHS cohort suggests that the genetic PHOXB2 defect does not directly impact the brain structures ...
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A prospective observational study of associated anomalies in Hirschsprung’s disease
... Although Moore reported a relatively high proportion of brain abnormalities in HSCR patients, we could only confirm a case of corpus callosum agenesis in a patient of ours who was already diagnosed with prenatal US ...
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Chronic Alveolar Hypoventilation Secondary to Macroglossia in the Beckwith-Wiedemann Syndrome
... A 3-month-old child with Beckwith- Wiedemann syndrome who manifested chronic upper air- way obstruction secondary to macroglossia is reported.. Early recognition and therapy of airway co[r] ...
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