hrp0089p3-p401 | Growth & Syndromes P3 | ESPE2018

Is Using a Specific Growth Charts a Chance to be More Precise in Evaluation the Growth of the Children and Adolescence with Down Syndrome? Comparison of the Down’s Syndrome Growth Charts with the Growth Charts for Polish Population

Barg Ewa , Hetman Marta

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...

hrp0089p3-p414 | Adrenals and HPA Axis P3 | ESPE2018

Is the Third Time Really a Charm? The Story about Three Brothers Suffering from Adrenoleukodystrophy and about HSCT being a Chance to Stop the Unstoppable Disease

Hetman Marta , Kalwak Krzysztof , Barg Ewa

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...

hrp0092lb-19 | Late Breaking Posters | ESPE2019

CDX2 Polymorphism of VDR Gene and Lipid Profile in Patients Treated for Acute Lymphoblastic Leukemia During Childhood

Wysoczanska-Klaczynska Anna , Hetman Marta , Placzkowska Sylwia , Laczmanska Izabela , Slezak Ryszard , Barczynski Edwin , Barg Ewa

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...