hrp0084p3-841 | Fat | ESPE2015

Turn off and Turn in: The Influence of Television Viewing and Sleep on Lipid Profiles in Children

Manousaki Despoina , Radji Sanyath , Barnett Tracie , Mathieu Marie-Eve , Gray-Donald Katherine , Henderson Melanie

Background: Physical activity is beneficial to lipid profiles, however the association between sedentary behaviours and paediatric dyslipidaemia remains controversial. Understanding these associations is critical given that youth are increasingly engaging in sedentary pursuits, and are sleeping, on average, 1 h less than children were 20 years ago.Objective and hypotheses: To investigate whether various forms of sedentary behavior/sleep predict lipid pro...

hrp0095rfc2.6 | Bone, Growth Plate and Mineral Metabolism | ESPE2022

Genetic liability and late adverse musculoskeletal, metabolic and mental health effects in a cohort of survivors of childhood acute lymphoblastic leukemia – a PETALE study

Nadeau Geneviève , Yazdanpanah Mojgan , Yazdanpanah Nahid , Krajinovic Maja , Alos Nathalie , Manousaki Despoina

Objectives: Survivors of childhood acute lymphoblastic leukemia (cALL) present elevated fracture rates compared to the general population. A polygenic risk score for estimated bone mineral density (BMD), named gSOS, validated to predict the risk of adult osteoporotic fracture, has been previously associated with significant fracture risk in childhood. We hypothesized that gSOS could be associated with long-term, bone health-related mobidities in survivors of c...

hrp0092rfc6.3 | Bone, Growth Plate and Mineral Metabolism Session 2 | ESPE2019

Increased Burden of Common Risk Alleles in Children with a Significant Fracture History

Manousaki Despoina , Kämpe Anders , Forgetta Vince , Makitie Riikka , Bardai Ghalib , Belisle Alexandre , Li Rui , Makitie Outi , Rauch Frank , Richards Brent

Background: Fractures are common in children, but a significant fracture history, defined as low-trauma vertebral fractures or multiple long bone fractures, is rare. Children with such history and no osteogenesis imperfecta (OI) are often presumed to have another Mendelian disease. However, in adults, multiple common risk alleles of small effect influence risk of fracture. We tested if subjects with a significant childhood fracture history have an increased bu...

hrp0089fc3.2 | Diabetes and Insulin 1 | ESPE2018

Genome-Wide Meta-Analysis Identifies a Novel Low Frequency STK39 Variant of Large Effect on Risk of Type 1 Diabetes

Forgetta Vincenzo , Manousaki Despoina , Ross Stephanie , Tessier Marie-Catherine , Marchand Luc , Qu Hui-Qi , Bradfield Jonathan P , Grant Struan FA , Hakonarson Hakon , Paterson Andrew , Piccirillo Ciriaco , Polychronakos Constantin , Richards J Brent

Background: The genetic etiology of Type 1 Diabetes (T1D) is well recognized, with over 60 loci being identified to date, mainly through genome-wide association studies (GWAS). Most of these genetic associations involve common variants, while a sizable portion of the missing heritability of T1D could be attributed to unidentified rare single nucleotide polymorphisms (SNPs) (minor allele frequency (MAF) < 5%). The recent availability of large human whole genome sequencing d...