ESPE Abstracts

Background: Optimal glycemic control in children and adolescents with type 1 diabetes mellitus (T1DM) is often hampered owing to psychologic maladjustment of both patients and their parents. Accumulating evidence suggests that hyperglycemia may be associated with prolonged activation of the stress system.Objective and hypotheses: To pilot test a 12-week intervention program including psychoeducation about stress, healthy lifestyle, diaphragmatic breathin...

Background: Dystrophinopathies, including Duchenne (DMD) and Becker (BMD) muscular dystrophy, are X-linked muscle wasting disorders caused by mutations in the dystrophin gene. Dystrophin deficiency compromises functional integrity of the muscle fibers leading to progressive weakness, accompanied by a gradual bone loss.Objective and hypotheses: This study’s goal was to evaluate the effect of whole body low magnitude vibration (WBLMV) on timed motor p...

Background: SHORT syndrome is an autosomal dominant genetic multisystem disorder determined by PIK3R1 gene mutations, which normally plays a role in cell signalling. SHORT is an acronym for short stature, hyperextensibility of joints and/or hernia, ocular depression, Rieger anomaly and teething delay. It is a rare condition; its prevalence is unknown with only few affected individuals and families reported worldwide.Case report: We report a case of 4 yea...

Background: MicroRNAs are small non-coding RNAs that regulate gene expression and play major roles in many physiological and pathological processes.Objective and hypotheses: Determine whether changes in microRNA expression contribute to β-cell dysfunction and/or loss and favor the development of diabetes.Method: Analysis of the changes in microRNA expression occurring in pancreatic islets of diabetes animal models and assessme...

Background: Neural crest (NC) cells emerge at the interface between neural and non-neural ectoderm, and migrate extensively to form a variety of NC derivatives such as peripheral neurons, glia, melanocytes, endocrine cells, and mesenchymal precursor cells. NC cells possess various unique properties and are capable of undergoing cell fate decisions across multiple tissues and germ layers. In zebrafish and mouse, GnRH neurons are reported to arise also from NC.<p class="abst...

Background: Transient generalized glucocorticoid hypersensitivity is a rare disorder characterized by increased tissue sensitivity to glucocorticoids and compensatory hypoactivation of the hypothalamic–pituitary–adrenal (HPA) axis. The condition itself and the molecular mechanisms that underlie its pathophysiology have not been elucidated as yet. Adenovirus 36 has been reported to cause obesity in various animal species.Objective and Hypotheses...

Introduction: The extracellular calcium-sensing receptor (CaSR) enables the parathyroid glands and other CaSR-expressing cells involved in calcium homeostasis to sense alterations in calcium serum concentrations. Mutations in the CASR gene may produce gain or loss in its activity. Activating mutations cause a hypocalcaemic syndrome of varying severity, as autosomal-dominant hypocalcaemia or Bartter’s syndrome.Case report: We describe a 6 months infa...

Background: In blood, leptin is suggested to circulate both in the free form as well as bound to soluble leptin receptor (sLR) and possibly also to other as yet unidentified binding protein. However, the role of the sLR in the regulation of the physiological function of leptin is until now unclear.Objective and hypotheses: We aimed to investigate the relation of serum leptin and sLR levels with metabolic and anthropometric parameters in obese and healthy...

Background: Folate and cobalamin are needed for synthesis of methionine, a substrate of methylation in epigenetic, and epigenomic pathways. Methyl donor deficiency (MDD) leads to hyperhomocysteinemia, which has been related to osteoporosis in humans and disruption of epiphyseal cartilage and bone development in rodents. Recent studies have revealed evidence for association between 25(OH)D3 and homocysteine levels, however, underlying mechanisms remain elusive.<p...

Background: Type 1 diabetes (T1D) is a T cell-mediated autoimmune disease. A more complex immunological picture is being unraveled, with a key role of innate immune cells at disease onset and maintenance. For new therapies based on immune-modulation to be possible, immune characterization of T1D patients is crucial.Objective and hypotheses: We aimed to characterise innate and adaptive immune cells of T1D children at a well-defined ‘onset-window&#146...