hrp0094p2-220 | Fat, metabolism and obesity | ESPE2021

Characteristics of eating behavior in children with type 1 diabetes and obesity

Waaks-Stępień Bogdan , Mikhno Hanna ,

Objective: to evaluate the characteristics of eating behavior in children with type 1 diabetes mellitus and various forms of obesity.Methods: We examined 80 children in the University Hospital (Minsk) in 2021. All children were divided into 2 groups: group 1 30 children (18 boys (B) (BMI 31.68±4.57 kg/m2, age 13.23±2.01 years) and 12 girls (G) (BMI 30.30±4.65 kg/m2, age 13.43±2.4...

hrp0092fc6.1 | Bone, Growth Plate and Mineral Metabolism Session 2 | ESPE2019

Bone Tissue Characterization of a Mouse Model of Atypical Type VI Osteogenesis Imperfecta Reveals Hypermineralization of the Bone Matrix, Elevated Osteocyte Lacunardensity and Altered Vascularity

Hedjazi Ghazal , Guterman-Ram Gali , Blouin Stéphane , Roschger Paul , Klaushofer Klaus , Fratzl-Zelman Nadja , Marini Joan C

Objectives: Osteogenesis imperfecta (OI) is an extremely heterogeneous connective tissue disorder characterized by low bone mass, which together with altered bone matrix properties leads to skeletal fragility. Due to the wide range of symptoms, the pathophysiology of the OI is not fully understood. Null mutations in SERPINF1, encoding the potent antiangiogenic factor PEDF, cause type VI OI with excessive osteoid formation, abnormal osteoblast-osteocyt...

hrp0092fc5.4 | Thyroid | ESPE2019

Thyroid Dysgenesis: Exome-Wide Analysis Identifies Rare Variants in Genes Involved in Thyroid Development and Cancer

Larrivée-Vanier Stéphanie , Jean-Louis Martineau , Magne Fabien , Bui Helen , Samuels Mark E. , Polak Michel , Van Vliet Guy , Deladoëy Johnny

Context: Congenital hypothyroidism from thyroid dysgenesis (CHTD) is mainly a sporadic and non-syndromic condition occurring in 1:4,000 live births. In contrast to rare cases of syndromic monogenic CHTD, non-syndromic (NS) CHTD shows low familial recurrence risk (~2%) and low concordance rate between MZ twins, suggesting a two-hit scenario combining post-zygotic events with either a de novo monogenic mutation or incomplete penetrance of polyg...