hrp0094p1-113 | Fat, Metabolism and Obesity B | ESPE2021

Are you considering Idiopathic Intracranial Hypertension when evaluating a patient with obesity?

Apperley Louise , Kumar Ram , Senniappan Senthil ,

Introduction: Obesity is a recognised risk factor for raised intracranial pressure in the adult population but is still under-recognised in children and young people. The pathophysiology of raised intracranial pressure in relation to obesity remains unclear. The aim of our study is to investigate the association between idiopathic intracranial hypertension (IIH) and obesity in children and young people.Method: Patients d...

hrp0089p3-p214 | GH & IGFs P3 | ESPE2018

Two Siblings with Short Stature

V Sri Nagesh , Dauber Andrew , Kanithi Ravishankar , Dutta Deep , G Ram Kumar

2 siblings were referred for evaluation fo short stature and failure to thrive. Both were born of 3rd degree consanguinity, first and second in birth order. the first sibling was 2 1/2 year old at time of referral and had birthweight of 3.1 kg and had gross motor delay. Present height was 65 cm (SDS −6.2 S.D.)and weight was 6 kg (<3rd centile) Second sibling was 1.5 years old, with gross motor delay with height of 57 cm (SDS −6.5 S.D.</sma...

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...

hrp0089rfc12.3 | Diabetes and Insulin 2 | ESPE2018

Barriers and Sources of Support for the Performance of Physical Activity in Pediatric Type 1 Diabetes

Livny Ruth , Said Wasim , Shilo Smadar , Gal Shoshana , Oren Meirav , Weiss Ram , Zuckerman-Levin Nehama , Shehadeh Naim , Cohen Michal

Background: The advantages of physical activity are particularly emphasized in children with type-1-diabetes and 60 minutes of regular daily activity is recommended. However, reports suggest that children with type-1-diabetes perform less than the recommended daily activity and are less active than their non-diabetic peers. This study aimed to: i) Identify barriers and sources of support for exercise performance in children and adolescents with type-1-diabetes. ii) Identify st...

hrp0086fc15.2 | Late Breaking | ESPE2016

Mutations in SGPL1, the Gene Encoding Sphingosine-1-Phosphate Lyase, Cause a Novel Form of Primary Adrenal Insufficiency with Steroid Resistant Nephrotic Syndrome

Prasad Rathi , Maharaj Avinaash , Meimaridou Eirini , VanVeldhoven Paul , Buonocore Federica , Barbagaleta Eliana , Bergada Ignacio , Cassinelli Hamilton , Das Urmi , Krone Ruth , Saleem Moin , Hacihamdioglu Bulent , Sari Erkan , Storr Helen , Achermann John , Guasti Leonardo , Braslavsky Debora , Guran Tulay , Ram Nanik , Metherell Lou

Background: Primary adrenal insufficiency (PAI) is most commonly congenital in children. PAI is genetically heterogeneous with some gene defects causing syndromic disease. A third of patients have no genetic diagnosis meaning their prognosis is uncertain. We recently investigated families with a novel combination of PAI and steroid resistant nephrotic syndrome.Objective and hypotheses: To discover the genetic defect underlying this syndrome.<p class=...