hrp0089p2-p102 | Diabetes & Insulin P2 | ESPE2018

A Novel Missense Variant, p.(Thr405Arg), in the SLC19A2 Gene in an Infant with Thiamine Responsive Megaloblastic Anemia Syndrome Presenting with Anemia and Diabetes but with Normal Hearing

Spehar Uroic Anita , Milenkovic Dragan , De Franco Ellisa , Rojnic Putarek Natasa , Krnic Nevena

Objectives: Thiamine responsive megaloblastic anemia syndrome (TRMA) is characterized by the clinical triad of megaloblastic anemia, non-immune diabetes mellitus and sensorineural deafness. It is a very rare autosomal recessive disease with an increased frequency in consanguineous marriages and isolated communities. The syndrome is due to intracellular thiamine deficiency which is the result of a defective high affinity low performance thiamine transporter pro...

hrp0082p2-d2-270 | Adrenals & HP Axis (1) | ESPE2014

Osteoporosis in Triple A Syndrome: an Overlooked Symptom of Unexplained Etiolaogy

Dumic Miroslav , Rojnic Putarek Natasa , Kusec Vesna , Barisic Nina , Koehler Katrin , Huebner Angela

Background: Triple A syndrome (alacrima, achalasia, adrenal failure, progressive neurodegenerative disease) is caused by mutations in the AAAS gene which encodes the protein ALADIN. Osteoporosis seems to be an overlooked symptom in triple A syndrome.Objective and hypotheses: To evaluate etiology of osteoporosis in six male and four female patients with triple A syndrome.Method: X-ray, dual X-absorptiometry (DXA) of the lum...

hrp0095p1-460 | Diabetes and Insulin | ESPE2022

Assessing the clinical effectiveness of advanced hybrid closed loop insulin pump therapy and calibration-free glucose sensor - experience of a single centre, Arendal, Norway

Rojnic Putarek Natasa , Schmidt Katharina , Henrik Augustsson Johan , Hurvenes Moen Hilde , Spehar Uroic Anita

Introduction: Automated insulin delivery has demonstrated improved glycemic control in children and adolescents with type 1 diabetes mellitus (T1DM). The present analysis investigates real-world glycemic outcomes in children and adolescent on the MiniMedâ„¢ 780G advanced hybrid closed loop (AHCL) system after switching from MiniMedâ„¢ 640G predictive low glucose suspend system (PLGS) or MiniMed 670G hybrid closed loop (HCL) system and calibration-free ...