ESPE Abstracts

Introduction: The PLIN1 gene encodes perilipin - a lipid droplet coat protein expressed in adipocytes where it inhibits basal and facilitates stimulated lipolysis. Mutations in PLIN1 have been described in several families with partial lipodystrophy, dyslipidemia and insulin resistance (partial lipodystrophy type 4, Familial, FPLD4). Herein we describe a novel heterozygous c.1210-1delG splicing variant in PLIN1 gene in three unrelate...

A 5-year old boy was referred to our clinic for short stature reported since first years of life. At birth weight and length were normal, psychomotor development was regular, target height was 165.9 cm. At 7 months of life he was subjected to correction of cleft lip-palate. Since 3 years of life he suffered from headache, for which a fundoscopy was performed and revealed a Morning Glory Disc Anomaly (MGDA) of the right eye. At our first visit height was 98.2 cm (-2.5DS), body ...

Introduction: Osteopetrosis (OP) is a rare genetic disorder that is characterized by abnormal osteoclast function resulting in dense bones and marrow failure. The only definitive cure for OP is stem cell transplantation (SCT). Hypercalcemia is a well described complication in children with OP undergoing SCT. This study describes the calcium profile and treatment modalities used to maintain normocalcemia in children with OP undergoing SCT.<p class="abstext"...

Context: Spinal muscular atrophy (SMA) is an autosomal recessive inherited disease characterized by degeneration of anterior horn cells of the spinal cord and brainstem resulting in variable degrees of muscular atrophy and proximal muscle weakness. In December 2016, nusinersen was FDA-approved for the treatment of SMA in pediatric and adult patients. The introduction of this therapeutic modality has provided a platform for professional medical-care providers i...

Childhood obesity has become a major health issue in the last decades. Moreover, identifying a simple, feasible, and valid screening tool to select subjects at higher risk for obesity-related comorbidities has become a challenge. Current guidelines reccommend to use BMI percentile for overweight and obesity diagnosis. However, waist-to-height ratio (WHR) has been associated with the risk of metabolic derangement in children and adolescents with overweight and obesity. In addit...

Introduction: It is well known that low birth weight in children (born small for gestational age, SGA) predisposes them to the occurrence of obesity, insulin resistance (IR) and lipid disorders, observed even through the whole first decade of life. Thus, early diagnostics and prevention are very important. The HOMA index is used to assess insulin resistance (IRIHOMA). However, in some cases, high, prolonged postprandial insulin secretion is observed...

Introduction: Vitamin D activity is controlled by its receptor (VDR). Increased risk of obesity and metabolic disturbances among certain VDR alleles has been proven. This study was conducted to assess the association between Cdx2 (rs11568820) polymorphism of VDR gene (genotypes: AG, GG) and genetic susceptibility to components of the lipid profile in survivors of acute lymphoblastic leukemia (ALL) treated during childhood.<stron...

Background: Postural orthostatic tachycardia syndrome (POTS) is a multifactorial condition, which implies symptoms as fatigue, tachycardia, sleep disorders and autonomic symptoms. The fundamental clinical sign is the manifestation of an abnormal increase in heart rates of at least 40 bpm within 10 minutes assuming an upright position, delineating a condition of orthostatic intolerance and decreasing quality of life.Objective</str...

Aim: To study the clinical profile of Neonatal Diabetes Mellitus (NDM) at our centreObjectives: 1. To study follow-up data on growth, glycemic control2. To review genetic analysisIntroduction: NDM is rare and occurs at a frequency of 1:1,00,000. There is scarce literature on follow up of these patients although genetic data is well established (1). Developing...

Background/Objectives: During treatment of children and adolescents with cancer, an imbalance of carbohydrate and mineral metabolism may occur, leading to clinical manifestations of the components of the metabolic syndrome. The aim of the work was to study the frequency and severity of various clinical signs associated with metabolic syndrome in a cohort of patients from the Russian Field Clinical Rehabilitation Center.Design/Met...