ESPE Abstracts

Background: Osteonecrosis (ON) is bone death caused by inadequate blood supply resulting in demineralization and trabecular thinning and, subsequently, mechanical failure. Although the pathophysiology of ON is not fully understood, the use of high-dose glucocorticoid (GC) is one of the triggers. Furthermore, its optimal management remains uncertain. The use of bisphosphonates (BP) for the treatment of ON has been reported, however, data on outcomes are limited...

Introduction: The aim of this study was to investigate the molecular genetic etiology and to determine the relationship between genotype and phenotype with targeted next-generation sequence (NGS)analysis.Method: Patients with a clinical diagnosis of OI were included in the study. Initially, mutations in COL1A1 and COL1A2 genes which are known to be most responsible for OI were investigated. In the second step, a targeted...

Background: MKRN3 gene, encoding Makorin RING-finger protein 3, is a maternally imprinted gene located at a Prader-Willi syndrome region on chromosome 15q11.13. Deleterious mutations of MKRN3 gene are a common cause of paternally inherited central precocious puberty (CPP), being identified in 33-46% of familial cases and in about 5% and 40% of apparently sporadic female and male cases, respectively.Objectives: To evaluate the presence o...

Introduction: The major genetic cause of CPP is the paternally inherited Makorin RING-finger protein 3 (MKRN3) deficiency. Rare patients carry variants in kisspeptin and its receptor and DLK1.Objectives: To identify genetic causes of CPP.Population and methods: MKRN3 Sanger sequencing was performed in 56 unrelated subjects (12 familial non-maternal, 44 sporadic (6 boys)), whole-ge...

Science was formerly an integral part of philosophy, but these two broad disciplines have gradually grown apart and are now typically viewed as completely different endeavors. In this talk, I will argue in favor of a renaissance in the integration of science and philosophy. I will argue first that philosophy can fruitfully contribute to science. I will take the example of stem cells in various contexts (homeostasis, regeneration and regenerative medicine, cancer) to illustrate...

Background: The GH/IGF-I axis is involved in metabolic control and studies suggest that IGF-I deficiency and subsequent changes in IGF-I signaling in brown adipose tissue (BAT) modifies its thermogenic capacity. Food restriction reduces thermogenic capacity in BAT, while leptin stimulates thermogenesis through uncoupling protein 1 (UCP-1) induction. Leptin and IGF-I maintain important crosstalk in different tissues, but whether these two hormones interact to r...

Introduction: The incidence of type 1 diabetes mellitus (DM I) is rising. Newly discovered peptides: adropin, afamin and neudesin may play a key role in the diagnostic process in the future. Most studies assessing the relationship of those peptides provide data obtained from studies conducted on animals, adults with type DM II and women with gestational DM. There are only few studies concerning these relationships in children.Aim of the ...

Patients with discordant thyroid function tests (TFTs) are common clinical conundrums for the practising paediatric and adult endocrinologist. In order to avoid unnecessary investigation and treatment, a structured approach to the work up is required. During this session I will use a case based approach to review common causes of discordant TFTs, such as confounding physiological and pathophysiological factors, analytical errors, binding protein abnormalities and genetic cause...

Background: To update the ongoing debate about the use of universal strict vs (local) national intrauterine growth charts, we compared the prevalence of small and large-for-gestational-age (SGA/LGA) infants according to international charts and national growth data.Methods: We classified singleton births from 33 to 42 weeks of gestation in 2016 and 2019 from Qatar (n = 92431), SGA (birthweight <10th percentil...

To support people with chronic diseases in labour, reïntegration or participation, the Dutch Centre of Chronic Illness and Work developed a certification programme for professional experienced based coaching for patient support organisations. This 8-month during programme combines professional aid and peer-support for a diversity of chronic diseases. Experience based coaching is innovative and can assist patients emotionally by supporting them with coping and accepting th...