hrp0089na1.1 | The clinical relevance of metabolomics; genomic engineering - CRISP-R/Cas9 and its many implications | ESPE2018

The Clinical Relevance of Metabolomics

Klapa Maria

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...

hrp0089p2-p216 | GH & IGFs P2 | ESPE2018

Incidence and Prevalence of GH Deficiency in the Russian Federation – An Analysis of Two Registries

Vorontsova Maria

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 ...

hrp0095p2-261 | Sex Differentiation, Gonads and Gynaecology, and Sex Endocrinology | ESPE2022

VSD genetic diagnosis exploiting single-cell expression data and deep learning

von der Decken Isabel , Azimi Hamid , Lauber-Biason Anna

The majority of patients with Variations of Sex Development (VSD) lack a genetic diagnosis. Patients that are born with atypical chromosomal, gonadal, or phenotypical sex, present a wide spectrum of phenotypes that are often associated with ambiguous genitalia, infertility as well as increased susceptibility to testicular or ovarian cancer. Many different genetic causes of VSD have been reported [2], but for more than 50% [3] of all VSD patients, the molecular cause of their c...

hrp0089p3-p241 | Growth & Syndromes P3 | ESPE2018

Small Stature: A Singular Difference for Accessing to Job

Diez-Lopez Ignacio , Sarasua Ainhoa , Lorente Isabel , Carranza Manuel

The pathological low stature is considered to be one that does not conform to normality (<2 SDS), that with a pathological growth rate. An obvious element is the conditioning that can generate in their professional outings, both in public and private activity. This seems to be evident in the female sex than in the male sex. The health system considers the treatment (with Ghrh) in pathological size without considering sexual dimorphism.Goals: To study...

hrp0082p3-d3-759 | Diabetes (4) | ESPE2014

Diabetes Mellitus Type 2 in Pediatrics: an Emerging Reality in Our Country: First Described in Spain

Diez-Lopez Ignacio , Sarasua-Miranda Ainhoa , Lorente-Blazquez Isabel

Background: The diagnosis of increasingly serious in the early years of life obesity has experienced a large epidemiological increased worldwide in recent decades, and especially in our country and in some groups. Many of the metabolic complications (SM) and cardiovascular have their origins in childhood and are closely related to the presence of insulin resistance (IR), which associated complications: hepatic steatosis, endothelial dysfunction, polycystic ovary syndrome (PCOS...

hrp0084p3-669 | Bone | ESPE2015

Comparison of the Levels of Vitamin D in Children in Northern Spain (Domestic or Foreign)

Sarasua-Miranda Ainhoa , Diez-Lopez Ignacio , Lorente-Blazquez Isabel

Background: In recent years, vitamin D is attracting increasing interest due to the resurgence of vitamin D deficiency and rickets in developed countries, identifying their extraesqueletics actions and greater understanding of its many benefits. Vitamin D deficiency in children prevalence of vitamin D deficiency in certain regions described up to 80%, especially at high latitudes (above 37) and some breeds.Objective and hypotheses: To study the degree of...

hrp0084p3-777 | Diabetes | ESPE2015

Clinical Changes Observed After System Implementation of JUNIORSTAR Systems in Children with Dm1a

Diez-Lopez Ignacio , Sarasua-Miranda Ainhoa , Lorente-Blazquez Isabel

Background: Several drugs and pharmaceutical formulations not sold in our country for different reasons: economic, market requirements or the prevalence of the disease. Like occur in so-called orphan treatments, diabetes mellitus (DM) children may be deprived of pharmaceutical presentations for its lower numerical prevalence vs the number of adult patients affections DMtipo2 One of the problems that young children face DM1 is its high sensitivity to insulin. Since May 2014 mar...

hrp0084p3-778 | Diabetes | ESPE2015

Metabolic Control in Children in Northern Spain DM1A with Deficit of Vitamin D

Diez-Lopez Ignacio , Sarasua-Miranda Ainhoa , Lorente-Blazquez Isabel

Background: 1 000 million people worldwide presenting vitamin D deficiency in children prevalence of vitamin D deficiency in certain regions described up to 80%, especially at high latitudes (above 37). Has been postulated role of vitamin D in the immune system and in clinical variability DM1.Objective and hypotheses: To study the degree of deficit VITD in our population (Location: 42° 51’north latitude 2° 41’west longitude) with DM1 ...

hrp0084p3-939 | GH &amp; IGF | ESPE2015

Increasing Lean Body Mass, Phase Angle, and Total Body Water But Decreasing Body Fat Among Short-statured Children Born Small-for-Gestational Age on GH Treatment

Volkl Thomas M K , Stumpf Isabel , Dorr Helmuth-G

Background: There is a small proportion of children born SGA without postnatal catch-up growth who are presented with persistent short stature, low BMI, and decreased lean body mass (LBM). Data on body composition are rarely reported in the literature. Our study addresses the question whether human recombinant GH treatment could affect body composition in these SGA children or not.Design: We included 58 SGA children (n=20 females) with SGA (birt...

hrp0094p2-229 | Fat, metabolism and obesity | ESPE2021

Influence of the basal metabolic profile on the evolution of the pediatric patient with obesity

Diez-Lopez Ignacio , Fernandez Belen , Lorente Isabel , Sarasua-Miranda Ainhoa ,

Objective: To study how basal metabolism influences the somatometric evolution of the child and adolescent population with obesity in a pediatric endocrinology clinic; multichannel impedance study, TANITA BF 430.Results: 100 randomly selected patients from a database with 1400 records were studied. Most of the patients who come to these consultations for obesity are girls, between 8 and 11 years old. The group of boys at...