hrp0092p2-49 | Bone, Growth Plate and Mineral Metabolism | ESPE2019

Successful Treatment with Enzyme Replacement Therapy in a Girl with Severe Infantile Hypophosphatasia

Heldt Katrin , L`Allemand Dagmar

Background: Infantile Hypophosphatasia (HPP) is an inborn error of metabolism characterized by low serum alkaline phosphatase activity caused by loss-of-function mutations within the ALPL-gene encoding the tissue nonspecific isoenzyme of ALP (TNSALP). TNSALP controls skeletal and dental mineralization by hydrolyzing inorganic pyrophosphate, a potent inhibitor of bone mineralization. Patients develop substantial skeletal disease, failure to thrive, and sometime...

hrp0084p3-809 | DSD | ESPE2015

A 19-Year-Old Adolescent with Short Stature and Scrotal Tumour

Heldt Katrin , L'Allemand Dagmar , Waibel Peter

Introduction: Primordial short stature can have many different causes. In addition to maternal factors (e.g. placental insufficiency), genetic or skeletal disorders may be found in the child. It is important to identify the underlying aetiology in time, since not only the risk of diabetes is increased, but also the prevalence of insufficient gonadal function and malignancy, e.g. in mixed gonadal dysgenesis (MGD).Case report: A 19 year old adolescent pres...

hrp0094p1-30 | Diabetes A | ESPE2021

Metabolic Control and Health-Related Quality of Life in Children with Diabetes Mellitus during the COVID-19 Pandemic: Results from a Prospective Swiss Cohort Study

Vural Serpil , Kahlert Christian , Gozzi Tiziana , Heldt Katrin , Roduit Caroline , Lauener Roger , l’Allemand Dagmar ,

Introduction: The COVID-19 pandemic led to regional lockdowns and restrictions associated with changes in lifestyle and quality of life (QoL) thus potentially burdening metabolic control in Diabetes Mellitus (DM). We examined whether the stages of restrictions lead to changes in QoL and metabolic control in children with DM.Methods: Starting in April 2020, this monocentric prospective longitudinal cohort study included c...

hrp0095rfc8.3 | Diabetes and Insulin | ESPE2022

Peripheral nerve conduction velocity in children and young adults with type 1 diabetes mellitus as a marker of metabolic control

Oberhauser Sarah , l'Allemand Dagmar , Heldt Katrin , Gozzi Tiziana , Stasinaki Aikaterini , Eilers Miriam , Lütschg Jürg , Broser Philip

Background: Nerve conduction velocity (NCV) abnormalities are considered as early signs of peripheral neuropathy in patients with diabetes mellitus (DM). We investigated which determinants NCV is subject to and how it is related to markers of metabolic control.Methods: We included 51 patients treated at the outpatient clinic of paediatric diabetology because of their type 1 DM and randomly assigned them for a nerve condu...

hrp0089p1-p119 | Fat, Metabolism and Obesity P1 | ESPE2018

Telemedicine Therapy for Overweight Adolescents: First Results of a Novel Smartphone App Intervention Using a Behavioural Health Platform

Heldt Katrin , Buchter Dirk , Brogle Bjorn , Chen-Hsuan Iris Shih , Ruegger Dominik , Filler Andreas , Gindrat Pauline , Durrer Dominique , Farpour-Lambert Nathalie , Kowatsch Tobias , l'Allemand Dagmar

Introduction: Despite improved therapy measures since 2014 the prevalence of overweight and obesity in Swiss adolescence stabilized on 19%. Particular challenges are lack of adherence to therapy in youth who are in difficult life situations or live further from specified centres. Therefore it is essential to find simple and novel therapeutic approaches. But although the number of digital based health information systems increases steadily, the effectiveness in reaching long te...

hrp0089p2-p135 | Fat, Metabolism and Obesity P2 | ESPE2018

A Simple Relaxation Exercise Reduces Stress in Obese Youth - A Path to a Healthy Lifestyle?

Stasinaki Aikaterini , Buchter Dirk , Shih C.-H. I. , Heldt Katrin , White Catherine , Ruegger Dominic , Filler Andreas , Gindrat Pauline , Durrer Dominique , Brogle Bjorn , Farpour-Lambert Nathalie , Kowatsch Tobias , L'Allemand Dagmar

Introduction: Lack of impulse control and impaired stress regulation may explain the development of obesity and its challenging therapy, already in youth. To improve self-regulation of overweight adolescents and subsequently their weight status, we tested, whether a biofeedback relaxation exercise decreases stress and whether relaxation services implemented in a novel Smartphone App supported intervention have effects on stress and weight outcomes.Method...

hrp0095rfc4.6 | Fat, Metabolism and Obesity | ESPE2022

European Consortium of Lipodystrophies Registry, 2022

von Schnurbein Julia , Gambinieri Alessandra , Fernández-Pombo Antia , Akinci Baris , Vatier Camille , Cecchetti Carolina , Adiyaman Cem , Vigoroux Corrine , Araujo-Vilar David , Savage David , Gilio Donatella , Bismuth Elise , Sorkina Ekaterina , Vorona Elena , Santos Silva Ermelinda , Nobecourt Estelle , Csajbok Eva , Santini Ferrucio , Prodam Flavia , Nagel Gabriele , Aimaretti Gianluca , Latanzi Giovanna , Ceccarini Giovanni , Novelli Giuseppe , Yildirim Simsir Ilgin , Jeru Isabelle , Štotl Iztok , Carel Jean-Claude , Writzl Karin , Heldt Katrin , Miehle Konstanze , Kleinendorst Lotte , D’Apice Maria-Rosaria , Beghini Mariana , Vantyghem Marie-Christine , Broekema Marjoleine , Faßhauer Mathias , Stumvoll Michael , Sbraccia Paolo , Ozen Samim , Magno Silvia , Scherer Thomas , Daffara Thomaso , Pekkolay Zafer , Wabitsch Martin

Background: Lipodystrophy syndromes comprise a large group of extremely rare diseases characterized by loss or dysfunction of adipose tissue. Due to their extreme rarity and variability, research in the field of lipodystrophy is difficult for single centres warranting larger co-operations.Methods: Therefore, the European Consortium of Lipodystrophies decided to found an international registry in 2016. This registry is ba...