hrp0084fc12.6 | Obesity - Clinical | ESPE2015

Initial Experience with Endoscopically Placed Duodenal–Jejunal Bypass Liner (Endobarrier) in Morbidly Obese Adolescents

Kotnik Primož , Homan Matjaž , Orel Rok , Battelino Tadej

Background: The duodenal–jejunal bypass liner (DJBL) is an endoscopically placed and removable intestinal liner that creates a duodenal–jejunal bypass. Weight loss and diabetes improvement was reported in the adults.Objective and hypotheses: To evaluate clinical effects and safety of this device in severely obese adolescents with obesity complications.Method: Six morbidly obese adolescents (four female, mean age 18.2 year...

hrp0092rfc3.6 | Multi-system Endocrine Disorders | ESPE2019

Prevalence of Endocrine Complications in Duchenne Muscular Dystrophy

Kotnik Primož , Jazbinšek Sončka , Golli Tanja , Osredkar Damjan

Background: Duchenne muscular dystrophy (DMD) is caused by mutations in the dystrophin gene and results in a progressive muscular damage and degeneration. Endocrine complications result from decreased energy expenditure, immobility and glucocorticoid (GC) treatment. Due to the multidisciplinary management and emerging genetic and molecular therapies longer survival is expected and there is an increasing emphasis on the quality of life in DMD. Aim of the study ...

hrp0092t12 | Top 20 Poster | ESPE2019

The First Description of Large Pathogenic Deletion in ACAN Gene and Additional Cases with Novel Pathogenic ACAN Variants

Stavber Lana , Hovnik Tinka , Avbelj Stefanija Magdalena , Kotnik Primož , Bertok Sara , Lovrečic Luca , Kovac Jernej , Battelino Tadej

Introduction: Recently novel approaches, through implementation of next-generation sequencing (NGS) in clinical practice for genetic evaluation of idiopathic short stature, has permitted to identify new variants of genes which modulate function of growth plate, including heterozygous mutations of the aggrecan gene. Aggrecan, a large chondroitin sulfated proteoglycan, is a major structural component of the extracellular matrix of cartilage, including growth pla...