ESPE Abstracts

Background: Thiamine-responsive megaloblastic anemia syndrome (TRMA), also known as Rogers syndrome, is characterized by megaloblastic anemia, sensorineural hearing loss, and diabetes mellitus. Disturbances of the thiamine transport into the cells results from homozygous mutation in the SLC19A2 gene. Rhythm disturbances and structural cardiac anomalies have been described in the syndrome.Case presentation: We report a bo...

Background: The relationship between 25 hydroxy cholecalciferol (25OHD) deficiency and autoimmune diseases including type I diabetes (T1D) is an ongoing area of research interest. Furthermore, vitamin D seems to affect β cells through calcium regulation, as insulin release is a calcium-dependent process. The aim of the study was to screen for (25OHD) deficiency in children with clinical onset of T1D and study the correlation between its serum levels an...

Background: This study aims to determine the incidence, clinical course and risk factors of hypothyroidism following cardiac catheter (CC) in infants with congenital heart diseases (CHD).Subjects and Methods: This prospective study included 102 patients with CHD, aged ≤ 3 years who underwent CC. Thyroid function tests were evaluated before CC, one day, one week, two weeks and four weeks after the procedure.<p clas...