hrp0084p3-649 | Bone | ESPE2015

Continuous 1–34 rhPTH Therapy in a Girl with a PTH-Gene Defect

Ertl Diana-Alexandra , Raimann Adalbert , Haeusler Gabriele

Case presentation: We recently started a 9-year-old girl with hypoparathyroidism due to a mutation in the PTH gene on a pump therapy with 1–34 rhPTH. She has received calcitriol and calcium since the age of 4 months. Bilateral nephrocalcinosis stage II/III was diagnosed at a young age. So far, her renal function remains normal. During the last 18 months symptomatic hypocalcemic episodes have become more frequent despite increased calcium and calcitriol doses. Continuous r...

hrp0094yb1.5 | Year of Paediatric Endocrinology 1 | ESPE2021

Bone, Growth Plate and Mineral Metabolism

Baroncelli Marta , Raimann Adalbert , Padidela Raja , Nilsson Ola ,

The skeletal research field develops rapidly and has produced several exciting findings in the last year and includes advances in the treatment of rare skeletal disorders and an ever deeper understanding into the fundamental molecular mechanisms that control skeletal development, metabolism, growth, and mineralization. The targeting of the C-type natriuretic peptide (CNP) pathway and options to directly antagonize the overactivity of the FGFR3 pathway in achondroplasia continu...

hrp0095rfc2.2 | Bone, Growth Plate and Mineral Metabolism | ESPE2022

Single-center analysis of quality of life in patients with X-linked hypophosphatemia (XLH)

Raimann Adalbert , Haufler Florentina , Ertl Diana-Alexandra , Haeusler Gabriele

Background: X-linked hypophosphatemia (XLH) is a rare metabolic bone disease which is caused by inactivating mutations in Phosphate-regulating neutral endopeptidase, X-linked (PHEX). Due to dysregulation of Fibroblast growth factor 23 (FGF-23), increased systemic levels of FGF-23 lead to chronic renal phosphate wasting and to impaired activation of 25OH-Vitamin D (25OHD). As a result, patients suffer from multiple musculoskeletal symptoms such as long bone def...

hrp0092fc6.2 | Bone, Growth Plate and Mineral Metabolism Session 2 | ESPE2019

Zone Wise Cell Separation Methods Comparison, Based on Relative Expression of Specific Growth Plate Markers in a Pig Model

Javanmardi Alireza , Raimann Adalbert , Egerbacher Monika , Sagmeister Susane , Gleiss Andreas , Haeusler Gabriele

Introduction: Longitudinal skeletal growth is achieved by enchondral ossification in epiphyseal growth plates (GP) of long bones and vertebrae. These highly organized cartilaginous tissues contain chondrocytes of all differentiational stages classified in three distinct zones named resting, proliferative and hypertrophic. Separated analysis of individual zones is essential in basic GP research thus efficiency of different zonal separation methods confers high ...

hrp0089fc11.2 | Bone, Growth Plate & Mineral Metabolism 2 | ESPE2018

Elevated Phosphate Levels Inhibit Skeletal Muscle Cell Differentiation In vitro

Raimann Adalbert , Egerbacher Monika , Greber-Platzer Susanne , Dangl Alexander , Pietschmann Peter , Haeusler Gabriele

Background: Hyperphosphatemic conditions such as chronic kidney disease are associated with muscle wasting and impaired life quality. While muscle regeneration relies on myogenic progenitor recruitment, the effects of high phosphate loads on this process has not been investigated in detail. This study aims to clarify the direct effectsof hyperphosphatemic conditions on skeletal myoblast differentiation in an murine cell model system.Material and methods:...

hrp0086p1-p144 | Bone & Mineral Metabolism P1 | ESPE2016

Effects of Phylloquinone and Magnesium on ATDC5 Prechondrocytes

Raimann Adalbert , Javanmardi Alireza , Sagmeister Susanne , Ertl Diana-Alexandra , Claudia Hochsmann , Monika Egerbacher , Gabriele Haeusler

Background: Cell-mediated initiation of enchondral ossification is essential for growth plate maturation. The matrix mineralization inhibitors matrix Gla protein (MGP) and osteocalcin (OC) represent key regulators of matrix mineralization and are highly expressed in growth plate chondrocytes. Pharmacological or nutritional phylloquinone (K1) depletion is known to affect skeletal mineralization by reduced gamma-carboxilisation of MGP and OC. Constituents of mineral matrix such ...

hrp0086p2-p852 | Syndromes: Mechanisms and Management P2 | ESPE2016

Assessment of the Medical and Psychological Status of Women with Turner-Syndrome in Young Adulthood

Ertl Diana-Alexandra , Culen Caroline , Schubert Katharina , Raimann Adalbert , Haeusler Gabriele

Background: Difficulties in transition of adolescent Turner Syndrome (TS) patients to adult health care has been reported in many studies.Objective and hypotheses: We conducted a medical and psychological follow-up of adult patients with Turner Syndrome which had been treated at our tertiary pediatric endocrine centre.Method: We screened for expected comorbidities and provided a questionnaire asking for current medical care. Furthe...

hrp0082p2-d2-297 | Bone (1) | ESPE2014

Severe Heterotopic Ossifications in a 10-year-old Boy with PHP1a

Raimann Adalbert , Alexandra Ertl Diana , Riedl Stefan , Schlegel Werner , Haeusler Gabriele

Background: Progressive osseous heteroplasia (POH) is a rare condition characterized by extensive heterotopic ossification (HO) of connective tissues. Associations of HO and Albright hereditary dystrophy (AHO) lead to the identification of GNAS mutations to be causative for ectopic none formations. The highly imprinted GNAS locus is known to cause a broad spectrum of pathologic conditions, including pseudohypoparathyrodism (PHP), pseudoPHP AHO. While PHP is caused by maternal ...

hrp0084p1-21 | Bone | ESPE2015

Effects of Inorganic Phosphate and FGF23 on C2C12 Myoblast Cells

Raimann Adalbert , Dangl Alexander , Greber-Platzer Susanne , Egerbacher Monika , Haeusler Gabriele

Background: Dysregulation of phosphate homeostasis in diseases such as tumor-induced osteomalacia and chronic kidney disease are often associated with impairment of musculoskeletal tissue function. While various factors such as intracellular calcium levels and dysegulated endocrine mechanisms are thought to contribute, the role of single factors such as phosphate and its main regulating hormone FGF23 are only partly revealed.Objective and hypotheses: Ino...

hrp0094p2-262 | Growth hormone and IGFs | ESPE2021

A Survey on Clinician Perceptions of Long-Acting Growth Hormone Analogs

Howard-James Naomi , Padidela Raja , Raimann Adalbert , Gevers Evelien , Semler Oliver , McDonnell Ciara ,

Background: Daily recombinant human growth hormone (rhGH) has been utilized since 1985 and has been proven to increase height velocity and improve body composition in growth hormone deficiency, various genetic syndromes and chronic kidney disease. Safety and efficacy are well established. Long-acting growth hormone (LAGH) analogs have been developed to improve compliance and patient experience. There are several LAGH preparations in development or early commer...