ESPE Abstracts

Introduction: Down syndrome (DS) is a chromosomal disorder. Children with DS have different height and weight patterns compared to children without DS. The aim of our study was to compare anthropometric parameters (expressed in standard deviation score-SDS) of people with DS using charts for DS and population (P) charts.Materials and Methods: The study group consisted of 114 patients with DS (64 girls), aged 4 months – 36 years (average age: 8.2 yea...

Introduction: Adrenoleukodystrophy (ALD) is a genetic diseases classified in the group of peroxisomal disorders caused by mutations in ABCD1, a gene located on the X chromosome. It is the most common monogenetically inherited neurodegenerative diseases. X-ALD is an inborn error of metabolism characterized by impaired peroxisomal beta-oxidation of very long-chain fatty acids (VLCFA) with a heterogeneous clinical spectrum. VLCFA accumulate principally in the CNS...

Background: People with Down syndrome (DS) are considered to be atherosclerosis-free. However, obesity predispositions and thyroid gland dysfunction that accompanies this syndrome can influence on the heart ischemic risk. The aim of the study was the evaluation of lipid profile of children with DS and estimation of omega-3 supplementation effect on serum lipid profile.Materials and methods: The group constituted 69 children with DS (41 boys), average age...

Background: People with Down syndrome (DS) are considered to be atherosclerosis-free. However, obesity predispositions and thyroid gland dysfunction that accompanies this syndrome can influence on the heart ischemic risk.Aim: The aim of the study was the evaluation of lipid profile of children with DS and estimation of omega-3 supplementation effect on serum lipid profile.Materials and methods: The group constituted 69 children wit...

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...

Introduction: Medical advances result in cure and life extension. Modern methods of oncological treatment lead to late endocrinological side effects.Objective of the study: The aim of the study was to assess the patients’ knowledge of possible result of chemotherapy and its long-term effects linked to gonadal dysfunction.Materials and methods: The survey covered a group of 92 (62 women) patients with hematologic neoplasms at t...

Backgrounds and objectives: Low bone mass density is an important problem in survivors of childhood cancers. The aim of this study is to determinate the influence of factors on bone mass density (BMD) and the prevalence of abnormal bone turnover.Materials and methods: The evaluation was performed in 67 patients (64.18% boys and 35.82% girls) at least 1 year after therapy of solid tumours, aged 4–27 years (median 12.67). The following parameters were...

Background: Forkhead box P3 (Foxp3) is an important regulatory factor for the development and function of T regulatory cells (Tregs). Moreover it has been established that deficiency of the Foxp3 gene in Treg cells suppresses their regulatory function leading to the development of autoimmune diseases especially autoimmune thyroid diseases (AITDs).Objective and hypotheses: The aim of our study was to estimate the association of three polymorphism of FOXP3...