ESPE Abstracts

Background: GH transduction defect (GHTD) is characterised by severe short stature and impaired STAT3 phosphorylation, which is overcome by simultaneous induction of GHTD fibroblasts with 200 ng/ml GH and short interference mRNA CIS (GH200/siRNA) or with 1 000 ng/ml GH (GH1000) and is clinically expressed with ‘catch-up’ growth after rhGH treatment.Objective and hypotheses: The involvement of epidermal growth factor receptor (EGFR) in the succe...

Background: epidermal growth factor (EGF) stimulates cell growth and differentiation through its receptor EGFR. Cross-talking between the GH and EGF signaling pathways is important for normal cellular development. GH transduction defect (GHTD), a clinical disorder characterized by impaired STAT3 phosphorylation due to excessive GHR degradation, is caused by over-expression of the E3 ubiquitin ligase, CIS.Induction of GHTD fibroblasts with 200 ng/ml hGH (GH200) and silencing mR...

Background: In this study we investigated mortality in children with monogenic diabetes.Methods: Within the Ukrainian Pediatric Diabetes Register (UPDR) the number of children with type 1 diabetes mellitus (DM1) 0-17 y.o. in 2019 was 9860 (1 in 769), with DM2 - 36 (1 in 210,547) with neonatal DM (NDM) - 66 (1 in 115,000), with MODY - 40 cases (1 in 114,844). We used targeted next generation sequencing (tNGS) of all known...

Introduction: Von Hippel-Lindau disease(VHL) is an autosomal dominantly inherited tumor syndrome that predisposes to development benign and malignant tumors. The prevalence of VHL disease is one in 36,000, and the penetrance is higher than 90%. PCC occur in up to 20% of VHL patients. Classically, it is characterized by having an adrenal location, mostly bilateral and being derived from the sympathetic nervous system, resulting in the releases of catecholamines...

Background: According to the World Health Organization, the social determinants of health, the conditions in which people are born, grow, live and work – significantly influences on health. The CAF Foundation, the Endocrinology Scientific Center and the Institute for Family Health under the Alfa-Endo Program studied prevalence of some social determinants in families of children with type 1 diabetes mellitus.Objective and hypotheses: Investigate soci...

Background: Nail-Patella syndrome (NPS) or hereditary onycho-osteodysplasia (OMIM: 161200) is an autosomal dominant disorder characterized by nail and elbow dysplasia, patellar aplasia or hypoplasia, nephropathy and intra-ocular hypertension. The diagnosis confirmes by pathogenic variant in the LMX1B gene. There are reports of short stature in patients with this syndrome, however, data of the use of somatropin have not been presented. We describe the ...

Background: Physical activity (PA) has been conclusively shown to reduce the incidence of diabetes in prior research. A 2,000 steps/day increment yielded hazard ratio (HR) 0.88 for incidence of diabetes 95% CI 0.78–1.00; P=0.046 (Garduno, 2022). Despite this, the role of different factors associated with higher adolescent after-school PA is understudied after the coronavirus pandemic, during which a greater proportion of parents worked remotely....

Novel CNS imaging techniques is a fast advancing field with frequent new developments in scanner’s hardware, protocols, clinical indications, and post-processing techniques. These techniques are designed to focus on the assessment of functional tissue characteristics, such as neuronal activity (functional MRI- fMRI), microstructural properties (diffusion tensor imaging-DTI) and tissue perfusion (DSC perfusion, ASL). fMRI reveals brain activation during performance of beha...

High-throughput biomolecular (omic) analyses enabled the simultaneous quantification of hundreds or thousands of transcripts, proteins, metabolites in a biological system, contributing to the identification of discriminatory multi-component molecular profiles of a pathophysiology. Molecular quantities being interconnected, even subtle differences in one can carry significance if viewed in the context of the observed changes in the rest of the molecules. We can now view molecul...

Background: GH therapy for GH deficient (GHD) children in Russia is fully state funded as part of the ‘Seven high expenditure diseases’ (7HED) federal program. Thus, it is important to thoroughly understand the disorder, including its epidemiology. In Russia, there are two parallel functioning registries: the official federal medical statistics (OFMS) which provides purely statistical information and the 7HED registry which must contain a patient’s data to make ...