hrp0084p1-106 | Perinatal | ESPE2015

Influence of Nocturnal Glycaemia on Ventricular Repolarisation and Heart Rate Variability in Prepubertal Children with Type 1 Diabetes

Saade Marie-Beatrice , Pecquet Aurelien , Pladys Patrick , Beuchee Alain , Pele Fabienne , Nivot Sylvie , de Kerdanet Marc

Background: ‘Dead in Bed syndrome’ mechanism in childhood diabetes remains unknown. The hypothesis is that a nocturnal hypoglycaemia could lead to arrhythmias related to abnormal ventricular repolarisation.Objective and hypotheses: To look for a relationship between spontaneous fluctuations of nocturnal glycaemia, ventricular repolarization and heart rate variability (HRV) in prepubertal children with type 1 diabetes.Meth...

hrp0086fc3.3 | Pituitary | ESPE2016

Contribution of GLI2 Mutations to Pituitary Deficits and Delineation of the Associated Phenotypic Spectrum

Cohen Enzo , Pham Aurelie , Dastot Florence , Collot Nathalie , Afenjar Alexandra , Carel Jean-Claude , Furioli Jean , Leger Juliane , Leheup Bruno , Mignot Brigitte , Naud-Saudreau Catherine , Nivot Sylvie , Polak Michel , Rappaport Raphael , Simon Dominique , Sizonenko Pierre , Vincent-Delorme Catherine , Zung Amnon , Amselem Serge , Legendre Marie

Background: GLI2 is a zinc-finger transcription factor of the SHH signaling pathway, expressed during ventral forebrain and pituitary development. GLI2 mutations account for microforms of dominant holoprosencephaly. So far, only 15 unambiguous mutations were found in hypopituitarism –essentially combined pituitary hormone deficiency (CPHD)– frequently associated with holoprosencephaly-like malformations and/or polydactyly.Objective and...