hypoventilation syndrome
Obesity hypoventilation syndrome
... Obesity hypoventilation syndrome (OHS) is defined as a combination of obesity (body mass index ⩾ 30 kg·m −2 ), daytime hypercapnia (arterial carbon dioxide tension ⩾ 45 mmHg) and sleep disordered breathing, ...
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Progressive Paranoid Psychosis in a 20-Year-Old With Central Congenital Hypoventilation Syndrome
... Over the year before presentation, the patient developed symptoms consistent with schizophrenia, including amotivation, avolition, increasing paranoia, and both auditory and visual hallucinations. The symptoms were ...
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A Triple Threat: Down Syndrome, Congenital Central Hypoventilation Syndrome, and Hirschsprung Disease
... 15. Trochet D, O ’ Brien LM, Gozal D, et al. PHOX2B genotype allows for prediction of tumor risk in congenital central hypo- ventilation syndrome [published correction appears in Am J Hum Genet. 2005;76(4): 715]. ...
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Extreme intra familial variability of congenital central hypoventilation syndrome: a case series
... Introduction: Congenital central hypoventilation syndrome is an autosomal dominant disorder that classically presents as sudden death in infancy secondary to central hypoventilation. Most cases are ...
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Congenital central hypoventilation syndrome: diagnostic and management challenges
... 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 paired-like homeobox 2B ...
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Abnormal auditory pathways in PHOX2B mutation positive congenital central hypoventilation syndrome
... central hypoventilation syndrome (CCHS) is a rare disease characterized by severe central hypoventilation due to abnormal autonomic control of ...
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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 curse, ...
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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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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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"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.
... central hypoventilation syndrome have disorders of central hypoventilation syndrome does not differ from controls, the relative increase above the mean heart rate at rest and with exercise is ...
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Massive Scrotal Edema: An Unusual Manifestation of Obstructive Sleep Apnea and Obesity-Hypoventilation Syndrome
... obesity- hypoventilation syndrome may present with massive scrotal ...obesity-hypoventilation syndrome is recognized as the cause of right heart failure, and if the apnea is corrected, the ...
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Characterization of Dermatoglyphics in PHOX2B-Confirmed Congenital Central Hypoventilation Syndrome
... central hypoventilation syndrome have char- acteristic variants in the PHOX2B gene (primarily polyalanine expansion muta- ...central hypoventilation syndrome would have characteristic ...
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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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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 mechanical ...
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Switch of noninvasive ventilation (NIV) to continuous positive airway pressure (CPAP) in patients with obesity hypoventilation syndrome: a pilot study
... Patients over 18 years old, suffering from OHS, defined as an association of obesity (BMI ≥ 30 kg/m 2 ) and day- time hypercapnia (paCO2 > 45 mm Hg), who had been undergoing NIV for more than 2 months, were prospect- ...
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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]. Linear ...
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The effect of positive airway pressure therapy on neurocognitive functions, depression and anxiety in obesity hypoventilation syndrome
... obesity hypoventilation Syndrome; OSAS, obstructive sleep apnea syndrome; PAP, positive airway pressure; PF, physical functioning; PSG, polysomnography; RE, role limitations due to ...
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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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Using PaCO2 values to grade obesity-hypoventilation syndrome severity: a retrospective study
... alveolar hypoventilation (lung, neuromuscular, and chest wall dis- eases); no evidence of acute respiratory failure (ie, patients with worsening symptoms during the last 2 weeks, a breathing frequency of > 30 ...
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Congenital Central Alveolar Hypoventilation Syndrome in Six Infants
... sleep states while receiving mechanical ventilation; no apneic periods were noted during the recording and arterial blood gases were as follows: quiet sleep Po2 87 torr, Pco2 = 39 torr; [r] ...
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