hrp0084fc2.3 | Bone & Mineral Metabolism | ESPE2015

High Success of a Next Generation Sequencing Panel for the Molecular Diagnosis of Rare Skeletal Dysplasias

Barreza Jimena , Rivera-Pedroza Carlos I , Sentchordi-Montane Lucia , Vallespin Elena , Montano Victoria E F , Mansilla Elena , Belinchon Alberta , Benito-Sanz Sara , del Pozo Angela , Ibanez Kristina , Gonzalez-Casado Isabel , Guillen-Navarro Encarna , Prieto Pablo , del Pozo Jaime Sanchez , Cruz-Rojo Jaime , Galan Enrique , Lapunzina Pablo , Garcia-Minaur Sixto , Santos-Simarro Fernando , Heath Karen E

Background: A total of 456 skeletal dysplasias have been classified by molecular, biochemical and/or radiological criteria, into 40 groups. Despite this, the precise, final diagnosis is often difficult due to the high phenotypic and genotypic variability.Objective: To improve the molecular and clinical diagnosis of skeletal dysplasias using a custom-designed next-generation sequencing (NGS) panel.Method: A total of 56 skeletal dysp...

hrp0095p1-482 | Fat, Metabolism and Obesity | ESPE2022

Liraglutide SC in the treatment of severe obesity in Pediatrics: a missed therapeutic opportunity?

Diez-Lopez Ignacio , Sarasua-Miranda Ainhoa , Jose Espina-Diez Mari

Liraglutide 3.0 mg has been shown to improve body mass index (BMI) and weight in obese adolescents. And it has done so in a randomized, double-blind, phase 3 clinical trial that has investigated the effect of liraglutide 3mg. compared with placebo for weight control in 251 obese minors, and as a complement to a healthy lifestyle. Adverse events associated with the use of liraglutide 3.0 in pediatric patients are not very different from those observed in adults. There may be ca...

hrp0095p2-50 | Diabetes and Insulin | ESPE2022

Inhaled glucagon, a new well-accepted therapeutic tool in pediatrics

Diez-Lopez Ignacio , Sarasua-Miranda Ainhoa , José Espina-Diez Maria

On 01/14/2021, the European Commission authorized the marketing of Baqsimi® 3 mg (nasal glucagon), a powder medicine, ready to be used, in the treatment of severe hypoglycemia in adults, adolescents and children over four years of age with diabetes mellitus. Baqsimi® is the first and only nasal glucagon treatment available approved in the European Union (EU), and has been designed as a rescue treatment in cases of severe hypoglycemia, being absorbed passively into the ...

hrp0095p2-87 | Diabetes and Insulin | ESPE2022

100 years with insulin. Implementation of analogs and technology in our environment

Diez-Lopez Ignacio , Sarasua-Miranda Ainhoa , José Espina-Diez Maria

Almost 100 years ago, a major turning point in the life expectancy of people with diabetes around the world was reached with the discovery of insulin. In 1936, Hagedorn had the ingenious idea of combining insulin with a protein, protamine, and zinc and his NPH was used almost mainly in pediatrics until the end of 2003, when glargine U100 made its appearance.Objective: To evaluate the clinical experience in the incorporation of different ...

hrp0092p3-316 | Late Breaking Abstracts | ESPE2019

Epidemiological and Socioeconomic CHANGES in the Child Population from Debut DM1 in this 21st Century

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

Objectives: To demographic, socio-economic and social changes in the population of children who debuted in this century with DM type 1aPatients and Methods: Study patients with Type 1 Diabetes Mellitus from January 2000 to the present. Longitudinal study of global epidemiological, social, demographic and clinical variables and by five-year periods, focusing on the latte at Basque CountryRes...

hrp0092p3-333 | Late Breaking Abstracts | ESPE2019

Influence of Nocturnal Hypoglycemia on School Performance of Teens with DM Type1

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

It is known that a larger number of blood glucose control, glycemic control of patients with type 1 Dm suffers improvement. Likewise, the presence of hypoglycaemias maintained, especially at night and in school-age patients, could have a significant influence on neurological aspects such as night rest, learning and memory. Improved technology has id allowed or development of control devices interstitial glucose, both blinded (retrospective) as erta abi (real time). The free FR...

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...

hrp0086p1-p548 | Perinatal Endocrinology P1 | ESPE2016

Recognition of a Sequence: More Growth before Birth, Longer Telomeres at Birth, More Lean Mass after Birth

de Zegher Francis , Diaz Marta , Lopez-Bermejo Abel , Ibanez Lourdes

Background: Telomere length at birth is a major determinant of telomere length in late adulthood. However, the prenatal setting of telomere length is poorly understood. Individuals born large from non-diabetic mothers are at lower risk for later-life disorders than those born small, a feature of their longer health span being a higher lean mass that provides more muscle strength and that is already present in infancy.Objective, hypotheses & methods: ...

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...