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hrp0098p2-102 | Fat, Metabolism and Obesity | ESPE2024

Diagnosis of monogenic obesity: the uncertainty due to the occurrence of VUS has decreased over time. A single center experience of variant follow-up.

Morandi Anita , Fornari Elena , Corradi Massimiliano , Olivieri Francesca , Piona Claudia , Maguolo Alice , Panzeri Carola , Emiliani Federica , Cavarzere Paolo , Maffeis Claudio

Background: The diagnosis of monogenic obesity is burdened by frequent variants of uncertain significance (VUS). We aim ed to describe our real-life approach of variant re-assessment over time for managing classification uncertainty in the diagnosis of monogenic obesity, and to infer if population data updates and novel functional evidence are decreasing inconclusive variants.Methods: We tested 101 children/adolescents (...

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hrp0098rfc1.6 | Diabetes and Insulin | ESPE2024

Metabolic dysfunction-associated steatotic liver disease and its association with glycemic control metrics in children and adolescents with type 1 diabetes: an exploratory study

Maffeis Claudio , Piona Claudia , Morandi Anita , Marigliano Marco , Morotti Elisa , Mancioppi Valentina , Zusi Chiara , Emiliani Federica , Mantovani Alessandro , Colecchia Antonio , Targher Giovanni

Context: Metabolic dysfunction-associated fatty liver disease (MASLD) is the most common chronic liver disease. Recent data showed that MASLD is a common condition also in adults with type 1 diabetes (T1D) and it is independently associated with an increased risk of diabetic complications.Aims: To examine the prevalence of MASLD and its association with glycemic control metrics in children and adolescents with T1D.<p...

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hrp0098rfc11.5 | Fat, Metabolism and Obesity 2 | ESPE2024

Hepatic lipogenesis increases FGF21 in children/adolescents with obesity.

Maffeis Claudio , Morandi Anita , Zusi Chiara , Olivieri Francesca , Fornari Elena , Corradi Massimiliano , Emiliani Federica , Da Ros Alessandro , Mantovani Alessandro , Targher Giovanni

Background and aim: Fibroblast growth factor 21 (FGF21) is produced and expressed in several tissues but mainly in the liver and adipose tissue, where it has endocrine and paracrine functions. Several experimental studies reported that FGF21 decreases lipogenesis, triggers beta oxidation of fatty acids, reduces hepatic ER stress and VLDL release and reduces fasting and postprandial triacylglycerols (TG). Consistently, several phase 2 trials with FGF21-agonists...

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ESPE Abstracts

Diagnosis of monogenic obesity: the uncertainty due to the occurrence of VUS has decreased over time. A single center experience of variant follow-up.

Metabolic dysfunction-associated steatotic liver disease and its association with glycemic control metrics in children and adolescents with type 1 diabetes: an exploratory study

Hepatic lipogenesis increases FGF21 in children/adolescents with obesity.

BiosciAbstracts