Y Rimet

Description Osteo-Oto-Hepato-Enteric (O2HE) syndrome, a new recessive autosomal syndrome secondary to loss of function mutations in the UNC45A gene

Laurence Faivre, Clothilde Estève, Ludmila Francescatto, Perciliz L. Tan et autres

51st Conference of the European-Society-of-Human-Genetics (ESHG) in conjunction with the European Meeting on Psychosocial Aspects of Genetics (EMPAG), Milan, ITALY, JUN 16-19, 2018

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Loss-of-Function Mutations in UNC45A Cause a Syndrome Associating Cholestasis, Diarrhea, Impaired Hearing, and Bone Fragility

Clothilde Estève, Ludmila Francescatto, Perciliz L. Tan, Aurélie Bourchany et autres

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Osteo-Oto-Hepato-Enteric Syndrome (O2HE) is caused by loss of function mutations in UNC45A

Clothilde Estève, Ludmila Francescatto, Perciliz L. Tan, Aurélie Bourchany et autres

Abstract Despite the rapid discovery of genes for rare genetic disorders, we continue to encounter individuals presenting with hitherto unknown syndromic manifestations. Here, we have studied four affected people in three families presenting with cholestasis, congenital diarrhea, impaired hearing and bone fragility, …

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Évaluation des connaissances et du vécu des parents d’enfants asthmatiques âgés de 2 à 15ans consultant en service d’accueil des urgences pédiatriques

M. Franquet, Marie Husson, J.‐C. Dubus, Y Rimet

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Apparent Life-Threatening Events in Presumably Healthy Newborns During Early Skin-to-Skin Contact

Patricia García, Y Rimet, C. Nicaise, Umberto Siméoni

The death or near death of a presumably healthy newborn in the delivery room is uncommon. We report here 6 cases of apparent life-threatening events (ALTEs) in the delivery room during the first 2 hours of life. In each case, the incident …

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MOTHER/INFANT SKIN TO SKIN CONTACT AT BIRTH: WIRELESS NEONATAL PULSE OXYMETRY MONITORING

Y Rimet, Michelle Leclaire, C Mathey, C D’Ercole et autres

Introduction Early maternal-neonatal skin to skin contact at birth has been shown to favour mother-infant bonding and breastfeeding. Few reports have pointed neonatal adverse events including respiratory arrest and death. This study evaluates the acceptance of a wireless, neonatal pulse oxymetry monitoring. …

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Surveillance of infants at risk of apparent life threatening events (ALTE) with the BBA bootee: a wearable multiparameter monitor

Y Rimet, Y Brusquet, D Ronayette, C. Dageville et autres

We report on the results of clinical evaluation of a newly developed system for wireless monitoring of pulse oximetry (SpO2), actimetry and position in infants. The sensors, electronics and the power supply were integrated into a specially designed infant shoe named BBA …

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Evaluation of a new, wireless pulse oximetry monitoring system in infants: the BBA bootee

Y Rimet, Y Brusquet, D Ronayette, C. Dageville et autres

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[Pediatric medical emergencies: clinical classification on basis of severity of illness, distribution between work days and non-working days].

J Marco, J.-F. Laude, L. Castanier, Y Rimet et autres

OBJECTIVES: Assess one year of activity in a pediatric medical emergency unit of a non-university hospital to detail the degree of gravity of patients admitted to pediatric wards and the distribution of non-programmed activity between and work days and non-work days. METHODS: …

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Abcès sous-phrénique révélateur d'une appendicite ectopique

J Marco, A. Poujol, Y Rimet, Julien Jarry et autres

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Ostéites récidivantes et Coxiella burnetii: relation avec l'ostéomyélite chronique récurrente multifocale

A. Poujol, S Toesca, JN Di Marco, Y Rimet et autres

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Intérêt de l'exploration par polysomnographie, pH métrie et ECG de 24 heures chez les fratries d'enfants décédés de mort subite du nourrisson: 212 cas

J Marco, Y Rimet, A. Poujol, P Cornus et autres

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