ESPE Abstracts

Introduction: Cystic fibrosis related diabetes (CFRD) is associated with a poorer nutritional status, respiratory function and an increase in mortality rate. Screening is recommended from age 10; however, prediabetic conditions are diagnosed earlier.Objectives: 1) To characterize the degree of carbohydrate metabolism impairment (CMI) in 50 CF patients. 2) To explore the association with clinical parameters as eventual predictors of these conditions.<...

Introduction: Ovarian stimulation syndrome (OSS) in an infrequent disorder, in preterm infants under 30 weeks gestation. The are very few cases described in the literature. The immaturity, lack of gonadal axis feed-back or mutations in the FSH receptor genes, may explain its physiopathology. We present the case of a 26-week neonate with this syndrome.Case summary: 26-week newborn with extremely low weight (460g) born by emergency cesarean section due to ...

Introduction: The Immune Thrombocytopenic Purpura (ITP) and Graves Disease (GD) have in common an autoinmune physiopathology. ITP is characterized by a platelet count less than 100 × 106/l in the absence of other cause. On one hand, ITP has been associated with thyroid dysfunction, without developing GD. On the other hand, GD might develop with moderate thrombocytopenia, generally more than 100×109/l. It is described that in most cases ITP might...

Background: Fifteen years ago children born very preterm (<32 weeks of gestation) were reported to be insulin resistant. Neonatal intensive care has since improved considerably, but it is unclear whether this has affected long-term outcomes in those born preterm. Abnormalities in gut microbiome, which influence host metabolism, have been found in preterm newborns.Objective and hypotheses: We aimed to assess whether children born very preterm still ha...

Background: Permanent neonatal diabetes (PND)with heterozygous mutations of KCNJ11, respond to treatment with sulphonylureas. We report a case of PND in a baby, and mother previously mis-diagnosed with Type 1 DM. Both were switched from insulin to oral sulphonylureas. We evaluate the response and evolution.Case report: A male newborn at 37 weeks’ gestation, with a birthweight 2750 g (40thC) and length 48 cm (40thC), was admitte...

Background: We have previously shown in a randomised controlled trial that moderate-intensity exercise over the last 20 weeks of gestation in healthy nulliparous women led to a birth weight reduction of approximately 250 g.Objective and hypotheses: We aimed to assess the long-term effects of exercise in pregnancy on anthropometry and body composition in mothers and offspring 7 years after the intervention. We hypothesized that women who exercised in preg...

Background: Fatty liver disease is diagnosed increasingly in obese children, which pathophysiology remains unexplained. Risk factors as insulin resistance, evolution of steatosis and hypertriglyceridemia, should be taken into consideration in its development.Objective and hypotheses: To analyse the prevalence of hepatic steatosis identified by ultrasound, as well as features and anthropometric data in our population divided into 2 groups: with steatosis ...

Background: Hepatic steatosis is common in obese children. The pathophysiology remains unexplained but it is known that insulin resistance and hypertrilycerdemia are involved in its development.Objective and hypotheses: To analyse the prevalence of hepatic steatosis identified by ultrasound, as well as features and anthropometric data in our population divided into two groups: (with steatosis and without steatosis) to assess the risk factors.<p class...

Background: Achondroplasia and hypochondroplasia are more frequent types of skeletal dysplasia. De novo mutations in the fibroblast growth factor receptor 3 (FGFR3) gene are the principal cause. More than 95% of the cases of achondroplasia result from a mutation G1138A (Gly380Arg). In hypochondroplasia we usually (50–70%) found the change C1620A y C1620G, N540K (Asn540Lys).Objective and hypotheses: We describe an skeletal dysplasia...

Background: Adolescents with cerebral palsy (CP) have decreased muscle mass resulting in impaired mobility and osteopenia. There is a void in therapeutic interventions aimed at increasing muscle mass, muscle function as well as osteopoenia in this population. Whole body vibration training (WBVT) has the potential to fill this therapeutic void by maintaining/increasing muscle mass and bone mineral accrual during growth.Objective and hypotheses: We aimed t...