ESPE Abstracts

Introduction: Increased adiposity has been associated with smoldering systemic inflammation and metabolic syndrome manifestations, leading to further morbidity by increasing the risk for type 2 diabetes mellitus and cardiovascular disease in adults. Similar analyses have not been performed systematically in children and adolescents.Hypothesis: This study investigates the interrelations between body composition parameters and indices of inflammation and m...

Background: Translational research has provided evidence of autonomic nervous system (ANS) interactions with cytokines and gut hormones. In the gastrointestinal track, the crosstalk of the stimulated vagus nerve with immune cells enhances the cholinergic tone. In obesity, on the other hand, hyperinsulinemia and hyperleptinemia induce ANS activation.Aim: To synthesize literature results exploring links among the autonomic nervous system, gut hormones, imm...

Introduction: GDM prevalence is increasing worldwide. The aim of the study was to identify potentially modifiable predictors of adverse neonatal outcomes in women with GDM.Methods: This prospective observational study included 576 singleton multiethnic women diagnosed with GDM after 13 weeks of gestational age, followed in the Diabetes and Pregnancy Unit of the CHUV between 4/2012 and 2/2017. Predictors included HbA1c at booking after GDM diagnosis and a...

Background: Li-Fraumeni Syndrome (LFS) is an autosomal dominant hereditary cancer syndrome associated with germline pathogenic variants in in the TP53 gene and high risk of a broad range of early-onset malignancies. The 70-77% of LFS associated tumors are: breast cancer, soft-tissue sarcoma, brain tumor, osteosarcoma and adrenocortical carcinoma. However, ovarian, pancreatic and gastrointestinal track tumors are also LFS-related. The patients with LFS are at risk for a second ...

Atopic dermatitis (AD) is a chronic inflammatory disease affecting children and adolescence. The traditional therapeutic options for AD, including emollients topically and immune modulatory agents systemically focusing on reducing skin inflammation and restoring the function of the epidermal barrier, are proven ineffective in many cases. Several studies have linked vitamin D supplementation with either a decreased risk to develop AD or a clinical improvement of the symptoms of...

Aim: This study aims to screen the genes/gene products associated with the polycystic ovary syndrome (PCOS) and to predict any possible interactions among them with high confidence. These interactions networks could contribute to the better understanding of PCOS pathophysiology and help generate new hypothesesMethods: Systems medicine approach using STRING v10.5 database and confidence level 0.7, interactions networking.Results: We...

Backgound: Alopecia areata (AA) or Alopecia Totalis (AT) is an autoimmune disease directed at the hair follicle, either limited to patchy hair loss over the scalp (focalis), or as total loss of scalp hair (totalis) or as total loss of both scalp and body hair (universalis). Management can be challenging, and despite multiple treatment modalities, no therapy still stands. While localized AA may respond well to topical corticosteroids, many patients require more aggressive secon...

Background: Several studies have correlated Assisted Reproduction Technologies (ART) including classic IVF and Intacytoplasmic Sperm Injection (ICSI) with epigenetic alterations in the offspring that could have long lasting unfavorable metabolic effects. Proteomics, a state-of-the-art technology used for the identification of early biomarkers of disease, has already been implemented in the search of success in ART but not yet for such markers evaluation in offspring of ART.</p...

Background: Knowing the changes of cardiovascular risk factors (CRF) in relation to weight loss would be helpful to advise overweight children and their parents and to decide whether drugs should be prescribed in addition to lifestyle intervention.Objective and hypotheses: The aim of the study was to determine the degree of overweight reduction to improve CRFs in overweight children.Method: We studied changes of blood pressure (BP)...

Background: Cytochrome P450 side-chain cleavage enzyme (CYP11A1 gene) catalyses the conversion of cholesterol to pregnenolone in steroidogenic cells, the first step in the biosynthesis of all steroid hormones. SCC deficiency has been established as an autosomal recessive disorder caused by inactivating homozygous or compound heterozygous mutations in the CYP11A1 gene, with a wide phenotypic spectrum ranging from prematurity, complete underandrogenization and severe early-onset...