ESPE Abstracts

Background: Nutritional excess of vitamin A, a precursor for retinoic acid (RA), causes premature epiphyseal fusion, craniosynostosis, as well as light-dependent retinopathy. Similarly, homozygous loss-of-function mutations in one of the major RA-metabolizing enzymes CYP26B1 causes advanced bone age, premature epiphyseal fusion, and craniosynostosis. We studied a patient with markedly accelerated skeletal and dental development, retinal scarring, and autism-spectrum disease.</...

Introduction: Most testis expressed (TEX) genes are testis-specific and evolutionarily conserved and several studies have reported important roles of TEX11, TEX12, TEX14, TEX15 and TEX 101 in mammalian fertility. Retrotransposons are thought to be critical for the evolution of mammalian genomes. TEX19 functions in the post-translational regulation of L1 retrotransposons, which are involved in maintaining trans-generational genome stability. In boys with crypto...

Background: Avascular necrosis (AVN) is common in Sickle Cell Disease (SCD), frequently involving the femoral and humeral head and less commonly involving the spine. AVN leads to joint collapse, chronic pain and disability, and often requires joint replacement in early adulthood. There are no medical therapies for AVN in SCD despite the high burden of disease and there are no published reports of bisphosphonate therapy in this condition....

Introduction: Overt clinical symptoms of type 1 diabetes (T1D) are often preceded by a pre-clinical stage of varying duration. Diagnosis of the pre-clinical stage is difficult and is based on the presence of specific islet autoantibodies in the subject's blood. Objectives: Apparently healthy first-degree relatives of patients with T1D were tested using the 3 Screen ICAELISA (RSR Ltd) for combined testing for autoantibodies to GAD65 (glutamic acid decarbox...

Background: Hypothalamic-pituitary (HP) deficiencies are frequent in childhood brain tumor survivors (CBTS) after cranial radiation. There is currently no consensus on the most optimal way to screen for HP dysfunction regarding diagnostic tests or time interval. It is not known whether MRI changes in time in the HP-region or in brain volume are predictive of HP dysfunction.Aim: To quantify changes in the HP-region and in brain volume on MRI in CBTS after...

Background: Vertebral fractures (VF) are recognised as an important aspect of bone health in children and adolescents, yet most of them are not clinically apparent. The clinical utility of vertebral fracture assessment (VFA) using dual-energy X-ray absorptiometry (DXA) for vertebral morphometry has not been evaluated in the paediatric population.Method: VFA was performed independently by two non-radiologist observers in 110 patients (52M/58F) as part of ...

Background: Mulibrey nanism (MUL) is a monogenic growth disorder with typical craniofacial features, perimyocardial heart disease, infertility and predisposition to tumors. MUL is caused by mutations in the TRIM37 gene encoding TRIM37 protein possessing E3 ubiquitin-ligase activity.Objective and hypotheses: MUL patients have pre- and postnatal growth failure with an average birth length SDS of -3.1 and birth weight SDS o...

Background: The survival of an organism relies on its ability to promptly, effectively and reproducibly communicate with brain networks that control food intake and energy homeostasis. To achieve this, circulating factors of hunger and satiety reflecting nutrient availability must cross the blood-brain barrier (BBB) to reach effectors neurons.Objective and hypotheses: Here I will discuss the key role played in this process by a peculiar type of glial cel...

Background: The European Programme on Cooperation of Science and Technology (COST) funds the formation of networking activities. These are especially favorable for research around rare diseases, because experts and scientists maybe at different centres and an international collaboration is needed.In November of 2013 the COST Action DSDnet was started. Currently 18 different European countries are participating and countries from all continents have voice...

Background: Fibrochondrogenesis 1 (FBCG1) is known as an autosomal recessive syndrome, which is related to short-limbed skeletal dysplasia. The disease is clinically characterized by a flat midface with a small nose and anteverted nares, significant shortening of all limb segments but relatively normal hands and feet, and a small bell-shaped thorax with a protuberant abdomen. Mutations in the gene encoding the α1 chain of type XI collagen (COL11A1) are s...