ESPE Abstracts

Iodide (I−) transport defect (ITD) is an autosomal recessive disorder caused by the inability of the thyroid follicular cell to actively accumulate iodide. Active I− accumulation is mediated by the Na+/I− symporter (NIS), an integral plasma membrane glycoprotein located on the basolateral surface of thyrocytes. The diagnostic criteria for ITD include a variable degree of hypothyroidism and goiter, low to absent thyr...

Introduction: Small-for-gestionational-age newborns (SGA-NB) may present subsequent comorbidities affecting their metabolism, growth, and development. Analysis of changes in serum proteome profile expression in SGA-NB may provide physiopathological information and help to identify postnatal biomarkers.Aim: To compare serum proteome profiles in SGA vs AGA newborns, stratified by gestational age.Study population and method: The study...

Background: Small-for-gestational-age (SGA) newborn infants (NB) may present long-term comorbidities influencing their metabolism, growth and/or development. Although their serum proteome is unknown, altered expression of the proteome profile may provide information on their physiopathology and lead to the discovery of biomarkers for postnatal complications.Aim: To detect changes in the serum proteome in SGA-NB vs adequate-for-gestational-age (AGA) newbo...

Background: CHRYSTAL (Costs and Health Related qualitY of life Study for Type 1 diAbetes mellitus pediatric patients in Spain) is an observational study conducted in 2014 on a representative sample of 275 patients aged 1-17 years with Type 1 Diabetes Mellitus (T1DM) in Spain.Objective and hypotheses: One of the objectives of the study was to describe the adherence to diabetes care using the Self Care Inventory (SCI), and to compare results by HbA1c level...

Background: Costs and health related quality of life study for type 1 diabetes mellitus (CHRYSTAL) pediatric patients in Spain is an observational study conducted in 2014 on a representative sample of 275 patients aged 1–17 years with type 1 diabetes mellitus (T1DM) in Spain. The study collects diabetes specific health related quality of life (HRQoL) using the Diabetes Module of the Pediatric Quality of Life Inventory (PedsQL). This scale has been identified to be one of ...

Background: The incidence rate of maturity onset diabetes of the young (MODY) and the proportion of different types of MODY will be different in different countries and races. GCK, HNF1A, and HNF4A are the three most common types of MODY, but the occurrence of other rare MODY subtypes in Chinese children is unknown. Therefore, studying the case group of MODY in Chinese children can help deepen understanding of MODY, early identification, and precise treatment....

Osteogenesis imperfecta (OI) is a rare, hereditary bone dysplasia with a broad clinical spectrum that includes skeletal and extra-skeletal manifestations. It is genetically heterogeneous and there are multiple described mutations that explain the clinical variability of this entity and make it difficult to establish a genotype-phenotype correlation.Objectives: To evaluate the clinical and genetic characteristics of the patient with OI.</...

Background: Insulin deficiency inhibits protein synthesis and stimulates protein degradation, and then amino acids metabolism could be altered in diabetes mellitus.Objective: The aim of this study is to analyze amino acid plasma profile in a group of children with type 1 diabetes, and to evaluate its potential application as markers of metabolic control of the disease.Subjects/Methods: A clinical assessment and metabolic study (ami...

Background: Glucocorticoids play an important role in the developing fetus; the most important of which is lung maturation by increasing surfactant production and release. Glucocorticoid receptor (GR) functioning changes throughout the fetal period, especially during the transition to extrauterine life. Given the importance of glucocorticoids in lung development and functioning, studying glucocorticoid sensitivity (GS) in this population would be helpful, especially in the pre...

Background: Osteogenesis imperfecta (OI) is a clinically and genetically heterogeneous rare disorder characterized by variable symptoms including predisposition to fractures. OI has been associated with mutations affecting the synthesis of type I collagen. However, the new technologies have permitted the identification of other responsible genes which are in the collagen metabolic pathway, while others are not.Objective: Characterize the genotype of pati...