hrp0089p3-p161 | Fat, Metabolism and Obesity P3 | ESPE2018

Autonomic Nervous System - Inflammation Link: A New Independent Mechanism for Homeostasis

Geronikolou Styliani , Chrousos George , Albanopoulos Konstantinos , Cokkinos Dennis , Kanaka-Gantenbein Christina

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...

hrp0089p2-p186 | Fetal, Neonatal Endocrinology and Metabolism P2 | ESPE2018

Potentially Modifiable Predictors of Adverse Neonatal Outcomes in Women with Gestational Diabetes Mellitus (GDM)

Antoniou Maria-Christina , Gilbert Leah , Fischer Fumeaux Celine , Gross Justine , Lanzi Stefano , Vial Yvan , Puder Jardena

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...

hrp0089p1-p187 | Growth & Syndromes P1 | ESPE2018

A Novel Deadly Variant in the TP53 Gene Causing Li-Fraumeni Syndrome. The Importance of Clinical Awareness and the Contribution of Molecular Diagnosis in Active Prevention Within Families with Multiple Tumor Incidents at a Young Age

Bothou Christina , Spyridis Georgios P , Papantonatos Dionysios A , Stratakis Constantine A , Papadimitriou Dimitrios T

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 ...

hrp0089p2-p290 | Multisystem Endocrine Disorders P2 | ESPE2018

Successful Treatment of Severe Atopic Dermatitis with Calcitriol and Paricalcitol in an 8-Year Old Girl

Bothou Christina , Alexopoulos Alexis , Dermitzaki Eleni , Kleanthous Kleanthis , Papadimitriou Anastasios , Mastorakos George , Papadimitriou Dimitrios T

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...

hrp0089p3-p280 | Multisystem Endocrine Disorders P3 | ESPE2018

Polycystic Ovary Syndrome Gene/Gene Products Interaction Network

Geronikolou Styliani , Pavlopoulou Athanassia , Cokkinos Dennis , Kanaka-Gantenbein Christina , Bacopoulou Flora

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...

hrp0089lb-p16 | Late Breaking P1 | ESPE2018

Successful Treatment of Alopecia Totalis with Calcitriol and Paricalcitol in Two Girls Aged 3 and 7-Years

Papadimitriou Dimitrios T , Bothou Christina , Dermitzaki Eleni , Kleanthous Kleanthis , Karkavitsas Konstantinos , Mastorakos George , Papadimitriou Anastasios

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...

hrp0086rfc13.2 | Management of Obesity | ESPE2016

The Use of Proteomics in the Assessment of Health Status of Offspring Born after Intracytoplasmic Sperm Injection (ICSI)

Kosteria Ioanna , Gkourogianni Alexandra , Papadopoulou Aggeliki , Anagnostopoulos Athanasios , Chrousos George , Tsagaris George , Kanaka-Gantenbein Christina

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...

hrp0086rfc13.4 | Management of Obesity | ESPE2016

Which Amount of BMI-SDS Reduction is Necessary to Improve Cardiovascular Risk Factors in Overweight and Obese Children?

Reinehr Thomas , Lass Nina , Toschke Christina , Rothermel Juliane , Lanzinger Stefanie , Holl Reinhard

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)...

hrp0086p1-p19 | Adrenal P1 | ESPE2016

Heterozygous Mutations in CYP11A1 Gene can Cause Life-Threatening Salt Wasting and Failure to Thrive

Papadimitriou Dimitrios T. , Bothou Christina , Willems Patrick J. , Zarganis Diagoras , Papaevangelou Vassiliki , Papadimitriou Anastasios

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...

hrp0086p2-p76 | Adrenal P2 | ESPE2016

High Sensitivity C-Reactive Protein (hsCRP) Levels as Predictor of Salivary Cortisol Acute Response to Mental Stress and/or Mobile Phone Call in Healthy Adolescents

Geronikolou Styliani , Vasdekis Vassilis , Cokkinos Dennis , Chrousos George , Kanaka-Gantenbein Christina

Background: The hypothalamic–pituitary–adrenal (HPA) axis responds to several acute or chronic environmental stessors, including those of social stress.Objective and hypotheses: To assess the HPA axis acute response during mental stress and mobile phone call exposure in healthy adolescents through salivary cortisol measurements and to investigate the modulatory effect of baseline biochemical or low-inflammation markers during this response....