[PDF] Top 20 Congenital Central Alveolar Hypoventilation Syndrome in Six Infants
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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] ... See full document
13
Extreme intra familial variability of congenital central hypoventilation syndrome: a case series
... [1,2,5]. Infants with CCHS typically do not breathe spontaneously for the first few months of life, but can develop breathing patterns while awake over ...The hypoventilation associated with CCHS is more ... See full document
5
A Triple Threat: Down Syndrome, Congenital Central Hypoventilation Syndrome, and Hirschsprung Disease
... that 1.5% of all individuals with HSCR also have CCHS. They also delineated a differ- ence in the amount of bowel involvement in HSCR depending on the presence of CCHS as well as DS. Most patients with HSCR and CCHS had ... See full document
5
Point Mutation in Exon 12 of the Receptor Tyrosine Kinase Proto-oncogene RET in Ondine-Hirschsprung Syndrome
... with congenital central hypoventilation syndrome associated with Hirsch- sprung’s disease (Ondine-Hirschsprung syndrome) rep- resenting a missense mutation in exon 12 of the receptor ... See full document
5
Progressive Paranoid Psychosis in a 20-Year-Old With Central Congenital Hypoventilation Syndrome
... schizophrenia-like syndrome that may have an atypical pulmonary ...silent hypoventilation may de- crease metabolic activity in the brain, resulting in slow neural adaptations with complex behavioral ... See full document
5
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]. ... See full document
5
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] ... See full document
5
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] ... See full document
8
Abnormal auditory pathways in PHOX2B mutation positive congenital central hypoventilation syndrome
... Table 3 shows BAEP responses for the study group. Nor- mal BAEP responses were observed in nine children (60%) and abnormal responses in the other six (40%). For three patients (N°6, 11 and 14), abnormalities con- ... See full document
6
Using non invasive bi level positive airway pressure ventilator via tracheostomy in children with congenital central hypoventilation syndrome: two case reports
... a central hypoventilation disorder, in which the severity of oxygen desaturation and hypercapnia was worsening during non-rapid eye movement compared to rapid eye movement ... See full document
7
Monozygotic Twins Discordant for ROHHAD Phenotype
... dysfunction, hypoventilation, and autonomic dysregulation (ROHHAD) falls within a group of pediat- ric disorders with both respiratory control and autonomic nervous system ...develop alveolar ... See full document
7
Outcomes in Multifocal Neuroblastoma as Part of the Neurocristopathy Syndrome
... neurocristopathy syndrome occurs because of a germline muta- tion of the paired-like homeobox 2b (PHOX2B) gene at 4p12, a neuro- genesis regulator ...in congenital central hypoventilation syn- ... See full document
8
Characterization of Dermatoglyphics in PHOX2B-Confirmed Congenital Central Hypoventilation Syndrome
... This work was supported by Rush University Dean’s Office Summer Research Fellowship and Sigma Xi Out- standing Rush Medical College Student Research Award (E. S. Todd), Spastic Paralysis and Allied Diseases of the ... See full document
9
Normal sleep on mechanical ventilation in adult patients with congenital central alveolar hypoventilation (Ondine’s curse syndrome)
... Fourteen of the 17 adult patients with CCHS followed at the adult branch of the French national reference center for this disease at the time of the study were included (age: 23 [22; 26] years old, median [1rst-3rd ... See full document
5
Proceedings of the fourth international conference on central hypoventilation
... Central hypoventilation syndromes (CHS) are rare diseases of central autonomic respiratory control associated with autonomous nervous ...Severe central hypoventilation is the hallmark ... See full document
24
"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.
... or Congenital Central Hypoventilation Syndrome, is a disorder of the central nervous system where, most dramatically, the automatic control of breathing is absent or ...stress. ... See full document
6
Apnea as a Presenting Sign of Hydrocephalus
... drome and central nervous system infections and in preterm infants with hydrocephalus secondary to intraventricular hemorrhage.25 Apnea secondary to congenital central hypoventilation sy[r] ... See full document
5
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] ... See full document
8
The genetics of congenital central hypoventilation syndrome: clinical implications
... infants and younger children for several reasons. CCHS infants and younger children have longer sleep periods therefore require more hours of being on ventilatory support per day. In this age group, the ... See full document
10
Congenital central hypoventilation syndrome: diagnostic and management challenges
... The purpose of polysomnography is to assess the presence of sleep hypoventilation and sleep-related breathing disorders. Profound hypoxia and hypercapnia should be treated accord- ing to institutional policies and ... See full document
9
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