Research Topics
Species | Ha TrangSummaryCountry: France Publications
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Publications
The French Congenital Central Hypoventilation Syndrome Registry: general data, phenotype, and genotypeHa Trang
Service de Physiologie, Hopital Robert Debre, Assistance Publique Hopitaux de Paris, Universite Paris 7, Paris, France
Chest 127:72-9. 2005..To analyze the main clinical features, genetic mutations, and outcomes of patients of the French Congenital Central Hypoventilation Syndrome (CCHS) Registry...- PHOX2B gene mutation in a patient with late-onset central hypoventilationHa Trang
Service de Physiologie, INSERM E 9935, Hopital Robert Debre, Universite Paris 7, Paris, France
Pediatr Pulmonol 38:349-51. 2004..This finding suggests that some of these cases may be genetically determined and allelic to congenital central hypoventilation syndrome... - Sleep desaturation: comparison of two oximetersHa Trang
Service de Physiologie, Hopital Robert Debre, Paris, France
Pediatr Pulmonol 37:76-80. 2004..002, and P = 0.021, for desaturation > or =3% and > or =5%, respectively). In conclusion, standardized oximeter settings are required to achieve more accurate assessments of hypoxemia in children with sleep-disordered breathing... - 24-hour BP in children with congenital central hypoventilation syndromeHa Trang
Service de Physiologie, Hopital Robert Debre, Universite Paris VII, INSERM E9935, Paris, France
Chest 124:1393-9. 2003..To study circadian BP patterns in patients with congenital central hypoventilation syndrome (CCHS)... - Use of nasal cannula for detecting sleep apneas and hypopneas in infants and childrenHa Trang
Service de Physiologie, Hopital Robert Debre, Universite Paris VII, INSERM E9935, 48 Boulevard Serurier, 75019 Paris, France
Am J Respir Crit Care Med 166:464-8. 2002..quot; Thus, the NC is more likely than the thermistor to detect OA and OH in infants and children, and this superiority is particularly marked for hypopneas... - Pediatric disorders with autonomic dysfunction: what role for PHOX2B?Claude Gaultier
Service de Physiologie, Hopital Robert Debre, 48 Boulevard Serurier, 75019 Paris, France
Pediatr Res 58:1-6. 2005..Furthermore, the development of genetic mouse models should help to improve our understanding of the molecular mechanisms underlying neural crest disorders... - Genetics and early disturbances of breathing controlClaude Gaultier
INSERM E9935, Réanimation Médicale Pédiatrique, Hopital Robert Debre, 75019 Paris, France
Pediatr Res 55:729-33. 2004..Recent insights into the genetic basis for CCHS may shed light on the genetics of other early disturbances in breathing control, such as apnea of prematurity and sudden infant death syndrome... - PHOX2B genotype allows for prediction of tumor risk in congenital central hypoventilation syndromeDelphine Trochet
Unité de Recherches sur les Handicaps Génétiques de l Enfant INSERM U 393, Département de génétique, Hopital Necker Enfants Malades, Paris, France
Am J Hum Genet 76:421-6. 2005..These data further highlight the link between congenital malformations and tumor predisposition when a master gene in development is mutated... - Exclusion of RNX as a major gene in congenital central hypoventilation syndrome (CCHS, Ondine's curse)Jeanne Amiel
Département de Génétique et INSERM U 393, Hopital Necker Enfants Malades, Paris, France
Am J Med Genet A 117:18-20. 2003..The screening of the RNX gene in a series of 25 patients with CCHS did not reveal any significant nucleotide variation. We therefore conclude that RNX is not a major gene for CCHS in human... - [Ondine syndrome or central congenital hypoventilation syndrome]Ha Trang
Centre de Référence du Syndrome d Ondine, Hopital Robert Debre, Paris
Rev Prat 56:125-8. 2006..Despite a high mortality rate and a lifelong dependence to mechanical ventilation, the long-term outcome of CCHS should be ultimately improved by multidisciplinary and coordinated follow-up of the patients... - Chemosensitivity recovery in Ondine's curse syndrome under treatment with desogestrelChristian Straus
Assistance Publique Hopitaux de Paris, Groupe Hospitalier Pitie Salpetriere, Service Central d explorations fonctionnelles respiratoires, F 75013 Paris, France
Respir Physiol Neurobiol 171:171-4. 2010..This is the first documented case of pharmacologically restored chemosensitivity in CCHS. It suggests that a very potent progestin such as desogestrel could unveil latent chemosensitive neural circuits... - Delineation of late onset hypoventilation associated with hypothalamic dysfunction syndromeLoic de Pontual
INSERM U781, Hopital Necker Enfants Malades, Paris, 75015, France
Pediatr Res 64:689-94. 2008..We ruled out PHOX2B, ASCL1, and NECDIN as disease-causing genes by direct sequencing in our series of patients and discuss possible disease-causing mechanisms... - Short-term blood pressure and heart rate variability in congenital central hypoventilation syndrome (Ondine's curse)Ha Trang
, INSERM E9935, , , 75019 Paris, France
Clin Sci (Lond) 108:225-30. 2005..It is likely that the impaired ontogeny of the visceral reflexes, considered now to cause CCHS syndrome, includes the baroreceptive pathway and mainly its vagal component... - Noradrenergic neuronal development is impaired by mutation of the proneural HASH-1 gene in congenital central hypoventilation syndrome (Ondine's curse)Loic de Pontual
Unité de Recherches sur les Handicaps Génétiques de l Enfant INSERM U 393, and Département de Génétique, Hopital Necker Enfants Malades, Paris, France
Hum Mol Genet 12:3173-80. 2003.... - Abnormal esophageal motility in children with congenital central hypoventilation syndromeChristophe Faure
Services de Gastroenterologie et de Physiologie, Hopital Robert Debre, Universite Paris VII, Paris, France
Gastroenterology 122:1258-63. 2002..Because swallowing-induced peristalsis is centrally controlled and depends on neural crest-derived esophageal innervation, we looked for esophageal dysmotility in patients with congenital central hypoventilation syndrome... - Chiari type I malformation causing central apnoeas in a 4-month-old boyMieke J A Van den Broek
Pediatric Neurology and Metabolic Diseases Department, Robert Debré Hospital Assistance Publique Hôpitaux, University of Paris 7 Denis Diderot, 48 Boulevard Serurier, F 75935 Paris Cedex 19, France
Eur J Paediatr Neurol 13:463-5. 2009.... - Relevance of a portable spirometer for detection of small airways obstructionNadia Ezzahir
Service de Physiologie, , Paris, France
Pediatr Pulmonol 39:178-84. 2005..004, respectively). We conclude that the Spirotel portable spirometer is reliable for measurement of forced expiratory flows, in large and small airways, provided that all curve waveforms can be stored and available for visual inspection... - PHOX2B germline and somatic mutations in late-onset central hypoventilation syndromeDelphine Trochet
Département de génétique, Hôpital Necker Enfants Malades 149, rue de Sevres, 75743 Paris Cedex 15, France
Am J Respir Crit Care Med 177:906-11. 2008..The potential overlap of LO-CHS with congenital CHS is under debate, even though both disorders can result from heterozygous PHOX2B gene mutations... - Polyalanine expansion and frameshift mutations of the paired-like homeobox gene PHOX2B in congenital central hypoventilation syndromeJeanne Amiel
Unité de Recherches sur les Handicaps Génétiques de l Enfant INSERM U 393, et Département de Génétique, Hopital Necker Enfants Malades, 149, rue de Sevres, 75743 Paris Cedex 15, France
Nat Genet 33:459-61. 2003..Our data support an essential role of PHOX2B in the normal patterning of the autonomous ventilation system and, more generally, of the ANS in humans...