hrp0092p2-112 | Fat, Metabolism and Obesity | ESPE2019

Identification of a Novel Heterozygous Missense Mutation in Low-density Lipoprotein Receptor Gene (LDLR) p.(Met652Thr) in an Emirati Family with Familial Hypercholesterolaemia (FH), Observed Genotype-phenotype Correlations and Pharmacotherapeutic Approaches

Al-Olabi Lara , Suliman Sara , Daggag Hinda

Background: Familial Hypercholesterolaemia (FH) is a common autosomal dominant disorder of low-density lipoprotein (LDL) metabolism characterised by elevated levels of plasma LDL-cholesterol (LDL-C), accelerated atherosclerosis and premature cardiovascular disease (CVD). In the Gulf Co-operation Council states, CVD is often diagnosed at a younger age and is the leading cause of mortality. As such, early genetic diagnosis and treatment of FH is important for ri...

hrp0084p3-746 | Diabetes | ESPE2015

Residual C-Peptide in Paediatric Patients with Type 1 Diabetes

Martin-Frias Maria , Oyakawa Yoko P , Alonso Milagros , Roldan Belen , Alvarez M Angeles , Barrio Raquel

Background: Preservation of C-peptide is important and has become regarded a relevant endpoint as already a quite small residual C-peptide seems to be related to both less acute and late diabetes complications.Objective: To assess the residual C-peptide secretion in pediatric patient with T1D.Method: Cross-sectional study of 157 patients with T1D. We analyzed: age at diagnosis, age at time of study (years), sex, diabetes duration (...

hrp0084lbp-1256 | Late Breaking Posters | ESPE2015

Higher Expression of the Oncogene YAP1, a Wnt/β-Catenin Target, is associated with Poor Outcome in Pediatric Patients with Adrenocortical Tumors

Abduch Rafael H , Bueno Ana Carolina , Leal Leticia F , Cavalcanti Marcelo M , Brandalise Silvia R , Masterallo Maria J , Yunes Jose A , Martinelli Jr Carlos E , Scrideli Carlos A , Tone Luiz G , Tucci Silvio , Moreira Ayrton C , Ramalho Leandra Z , Castro Margaret , Antonini Sonir R

Background: overexpression of the oncogene Yes-associated protein 1 (YAP1), a Hippo pathway target, associates with increased cell proliferation in some human cancers. There is not data on adrenocortical tumors (ACT). YAP1 is a potential target of Wnt/β-catenin pathway, which plays an important role in ACTs.Objective and hypotheses: to evaluate the role of YAP1 and its interaction with the Wnt/β-catenin pathway in ACT.Met...

hrp0097lb6 | Late Breaking | ESPE2023

A concomitant increase in thinness and weight excess in Brazilian schoolchildren: evaluation from 2010 to 2022

M de Jesus Luciana , M Pinto Renata , B D de Sousa Mariana , P de Oliveira Nayara , de S Gomes Laís

Introduction: The Body Mass Index (BMI) is an essential indicator for the nutritional assessment of children and reflects the exposure to health conditions that are harmful to the development of this population.Objective: To analyze the temporal trends of the BMI of Brazilian children aged 5-10 between 2010 and 2022.Patients and methods: Descriptive ecological study. Data obtained ...

hrp0097p2-254 | Late Breaking | ESPE2023

Decrease in the percentage of eutrophic adolescents in Brazil, temporal evaluation from 2010 to 2022.

M de Jesus Luciana , B D de Sousa Mariana , P de Oliveira Nayara , de S Gomes Laís , M Pinto Renata

Introduction: Adequate nutritional status of adolescents is essential for their healthy development, with health repercussions in both short-term and adult life.Objective: To analyze the temporal trends of the BMI of Brazilian adolescents (10 to 19 years old) between 2010 and 2022.Patients and methods: Descriptive ecological study. Data obtained from e-SUS Primary Care. The BMI cat...

hrp0086fc12.6 | Neuroendocrinology | ESPE2016

Pubertal Onset in Boys is Influenced by BMI and Genetic Variation of Fshb and Fshr: A Study in Two Population-Based Cohorts of Different Genetic Ancestry

Busch Alexander S. , Hagen Casper P. , Main Katharina M. , Almstrup Kristian , Pereira Anita , Corvalan Camila , Mericq Veronica , Juul Anders

Background: Age at onset of puberty exhibits a remarkable variation mirroring nutritional, environmental, socioeconomic and genetic factors. While large genome-wide association studies identified more than hundred genetic loci associated with age at menarche in girls, knowledge on loci associated with age at pubertal onset in boys is sparse. FSHB/FSHR genetic variants have been shown to affect pubertal timing in girls and reproductive parameters in men.<p class="a...

hrp0097p2-264 | Late Breaking | ESPE2023

Improvement in the nutritional status of Brazilian children under five years of age, evaluation from 2010 to 2022.

M Pinto Renata , M de Jesus Luciana , B D de Sousa Mariana , P de Oliveira Nayara , de S Gomes Laís

Introduction: The good nutritional status of children in the first years of life is essential for their healthy growth and development. Evaluating the repercussions of nutritional status is fundamental since nutrition can influence both short-term and adult life.Objective: To analyze the temporal trends of the BMI of Brazilian children aged 0 to 5 between 2010 and 2022.Patients and methods:...

hrp0082p2-d1-416 | Growth Hormone | ESPE2014

Absence of GH Signaling Induces Hypothalamic Inflammation that is Reversed in Response to a High Fat Diet

Baquedano Eva , Ruiz-Lopez Ana , Pardo-Barquin Elena , Gosney Elahu S , Herpy James , Chowen Julie A , Argente Jesus , Kopchick John J , Frago Laura M

Background: The GH/IGF1 axis has important roles in growth, metabolism, lipid profile and body composition. GH receptor disrupted mice (GHRKO mice) are resistant to the action of GH, thereby, GHRKO mice are dwarf, hypoinsulinemic, hypoglycemic and obese. Consumption of a high fat diet (HFD) induces inflammatory processes in a multitude of peripheral tissues, including hypothalamus.Objective and hypotheses: Our aim was to evaluate the effect of HFD intake...

hrp0082p1-d1-62 | Diabetes | ESPE2014

Effect of Adjunctive Therapy with Cholecalciferol on Residual β-Cell Function in Recent-Onset Type 1 Diabetes Mellitus: a Prospective Pilot Study

Fitas Ana Laura , Almeida Ana Filipa , Limbert Catarina , Lopes Lurdes

Background: Several studies have suggested that vitamin D supplementation in early childhood is successful in decreasing the risk of type 1 diabetes (T1D) through a complex immunomodulatory role. However, Intervening in disease once clinical symptoms have appeared and autoreactive immune responses are active might be more challenging. Controlled trials with vitamin D supplementation in recent-onset T1D have shown mixed results.Objective and hypotheses: T...

hrp0095p1-52 | Diabetes and Insulin | ESPE2022

Relationship between the quantification of physical activity according to the PAQ-c survey and the metabolic control of pediatric patients with type 1 diabetes.

Dominguez-Riscart Jesus , Buero-Fernandez Nuria , Garcia-Zarzuela Ana , Magdalena: Lerida-Nolasco Maria , López-Morago Casamayor Claudia , M Lechuga-Sancho Alfonso

Introduction: To achieve glycemic control goals in patients with type 1 diabetes (T1D), they are instructed in three fundamental principles: diet, insulin therapy and physical activity. Physical activity recommendations for children and adolescents with T1D are the same as for the general population. Following the physical activity recommendations helps mitigate the increased cardiovascular risk inherent to DM. We set out to explore the degree of glycemic cont...