ESPE Abstracts

Objective: Obesity and its complications affecting many organ systems have been documented. Nevertheless, study conducted on the ophthalmological effects of obesity are scarce. The aim of the present study was to evaluate the changes in the ophthalmological parameters in obese children in comparison to their healthy counterparts.Material and methods: Study included 61 obese and 35 age-sex matched controls. Obesity was defined as body mass index- standard...

Background: Cardiovascular risk factors largely determine morbidity and mortality in people with type 1 diabetes (T1D). Hyperlipidemia, especially in pediatric patients, is often undertreated, although it can lead to premature atherosclerotic changes. While non-HDL-C (non-HDL-cholesterol) is an important risk factor for cardiovascular events in patients with diabetes, guidelines only define LDL-C treatment targets. According to current ISPAD guidelines, childr...

Objective: Spexin is a novel peptide implicated in food intake and satiety. Spexin levels are reduced in obese patients.Aim: To evaluate the associations of metabolic syndrome (metS) antecedents with serum spexin levels in obese adolescents.Setting: A university- based tertiary care centre.Patients and methods: Eighty consecutive obese adolescents aged 10-18 y and 80 healthy ...

Background: Rare disease registries provide rich longitudinal data on patients with rare conditions that can be used for research. Those charged with access to data must safeguard the process, but also have a good oversight of the available data to be able to work with researchers to realistically assess whether there will be adequate data available to answer specific research questions. Data access committees would benefit from a pragmatic method of rapidly a...

Background: Cigarette contains more than 4,000 toxins and is suspected of having endocrine-disrupting properties. Anogenital distance (AGD) is an important biomarker of fetal androgen exposure and intrauterine masculinization. There are limited number of studies examining whether AGD is affected by prenatal smoke-exposure. The aim of this study is to investigate the effects of maternal smoking during pregnancy on newborn infants' AGD.<p class="abstext"...

Aims: Do-It-Yourself Artificial Pancreas Systems (DIYAPS) represent a unique patient-initiated treatment in which commercially available and approved medical devices such as continuous glucose monitoring systems (CGMs) and insulin pumps are connected by an off-label algorithm, and are remotely controlled by open-source algorithms to automate insulin delivery. While these systems are co-created by the DIYAPS community, and access is open to everyone, users have...

Background: Leptin, primarily secreted by adipocytes, is a pivotal signal of the body's energy status and exhibits pleiotropic effects. Homozygous mutations in the leptin gene which result in defective synthesis, release or bioactivity, cause intense hyperphagia and early-onset severe obesity, along with multiple metabolic, hormonal, and immunological abnormalities. In vitro and animal model studies suggest that leptin plays a role in linear growth. So far...

Introduction: The underlying genetic causes of congenital hypothyroidism with gland in-situ (CH GIS) and hyperthyrotropinemia (HT) remain largely a mystery. Thanks to NGS, genetic screening is now finding many novel variants. The challenge is to correctly identify which genes and which variants lead to CH and which cause only a transient HT.Objectives: Our objectives were to evaluate the presence of variants in 14 candid...

Introduction: Although there are several studies on the incidence of congenital hypothyroidism (CH), there are few data showing incidence and evolution of CH detected by the second newborn screening (NBS).Objectives: To assess the incidence of CH in Lombardia region and the percentage of patients identified by the 2ndNBS. To describe the clinical features and evolution of CH patients detected by the 2nd</...

Background: Protein subfamilies within the Nuclear receptor (NR) family share common domain architecture. These closely related receptors and their cognate ligand compounds play a key role in homeostasis, reproduction, growth, and development. Despite their biological significance, their evolution and diversification remains to be elucidated. SNPs and mutations are characterized by the permanent alteration of the nucleotide sequence in the genome of an organism. These alterati...