hrp0082p1-d1-203 | Reproduction | ESPE2014

Girls with Turner Syndrome have Normal Muscle Force but Decreased Muscle Power

Soucek Ondrej , Lebl Jan , Matyskova Jana , Snajderova Marta , Kolouskova Stanislava , Pruhova Stepanka , Hlavka Zdenek , Sumnik Zdenek

Background: Turner syndrome (TS) associates with decreased bone mineral density and altered bone geometry, a risk factors leading to increased fracture rate. Although hypogonadism or SHOX gene haploinsufficiency are the probable causes, the exact mechanism remains unclarified. Particularly, the muscle function as an important determinant of bone strength has yet not been widely studied in TS patients.Objective and hypotheses: We hypothesised there is mus...

hrp0086p1-p104 | Bone & Mineral Metabolism P1 | ESPE2016

Clinically Significant Fracture Incidence in Czech Children: A Population-based Study

Soucek Ondrej , Lebl Jan , Sumnik Zdenek

Background: Before reaching adulthood, every second boy and every third girl will sustain a fracture. This growth spurt-related bone fragility is partially caused by a quick longitudinal growth and a relatively slower increase in bone width. However, no study has focused particularly on clinically significant fractures, a criterion for osteoporosis diagnostics.Objective and hypotheses: The aim of this study was to describe the incidence of clinically sig...

hrp0092fc6.3 | Bone, Growth Plate and Mineral Metabolism Session 2 | ESPE2019

Decreased Trabecular Bone Mineral Density and Muscle Area at the Forearm Despite Improvement in Glycaemic Control Over 3 Years After Simultaneous Pancreas Kidney Transplantation

Soucek Ondrej , Maratova Klara , Sumnik Zdenek , Brunova Jana , Kratochvilova Simona

Background: Simultaneous pancreas kidney transplantation (SPKT) is a standard treatment option for young adults with type I diabetes (T1D) and concurrent renal failure. Despite the long-term immunosuppressive therapy the patients have better glycemic control, normalized renal function and an improved quality of life. Whether this is also reflected in the skeleton is not that clear yet.Methods: Patients were prospectively...

hrp0089p2-p240 | Growth & Syndromes P2 | ESPE2018

The Validation of an Automated Bone Age Assessment in Girls with Turner Syndrome – A Pilot Study

Soucek Ondrej , Lebl Jan , Maratova Klara , Zemkova Dana , Sumnik Zdenek

Background: Bone age evaluation is a basic tool to manage the treatment of girls with Turner syndrome (TS). The current standard of care is to involve an experienced medical staff to use the Tanner Whitehouse 3 (TW3) or Greulich-Pyle (GP) method for manual evaluation of the bone age. As this is time consuming and may be partially influenced by the evaluator’s skills, automated systems may prove more efficient.Objective and hypothesis: The aim of thi...

hrp0084p1-142 | Turner & Puberty | ESPE2015

Fracture Incidence is Not Associated with the Six-Year Development of Trabecular BMD in Paediatric Turner Syndrome Patients

Soucek Ondrej , Sumnik Zdenek , Snajderova Marta , Kolouskova Stanislava , Lebl Jan

Background: Increased fracture risk and decreased bone mineral density (BMD) have been demonstrated by several studies in Turner syndrome (TS). However, longitudinal data on BMD development in childhood and adolescence and a reliable densitometric predictor of fractures in TS are still lacking.Objective and hypotheses: Our aim was to longitudinally assess BMD in paediatric TS patients and test whether trabecular BMD development over six years of observat...

hrp0084p2-266 | Diabetes | ESPE2015

Increased Arterial Wall Stiffness in Children with Type 1 Diabetes and Poor Metabolic Control: An Early Marker of Vascular Complications?

Obermannova Barbora , Petruzelkova Lenka , Sulakova Terezie , Sumnik Zdenek

Background: The prevalence of macrovascular complications is probably underestimated in children with type 1 diabetes (T1D). Arterial stiffness (AS) represents a subclinical marker of CV risk. The most validated non-invasive method for AS measurement is pulse wave velocity (PWV). There are limited numbers of studies with PWV on children with T1D.Aim: Our aim was to assess the relationship between AS and parameters associated with metabolic control in chi...

hrp0097p1-19 | Bone, Growth Plate and Mineral Metabolism | ESPE2023

Bone mineral density development in children with chronic non-bacterial osteomyelitis treated with zoledronate

Soucek Ondrej , Cebecauerova Dita , Malcova Hana , Sumnik Zdenek

Introduction: Chronic non-bacterial osteomyelitis (CNO) is a sterile inflammatory disease of the skeleton characterized by local pain and swelling. If first line treatment (non-steroidal anti-inflammatory drugs) fails, bisphosphonates are recommended. There are no randomized controlled studies so far that would clarify the zoledronate efficiency, and also no study systematically exploring the effect on bone mineral density (BMD)....

hrp0086rfc5.7 | Management of Disorders of Insulin Secretion | ESPE2016

Early Successful Hematopoietic Cell Transplantation (HSCT) in a Boy with IPEX Syndrome Caused by Novel C.721T>C FOXP3 Mutation

Obermannova Barbora , Formankova Renata , Sumnik Zdenek , Dusatkova Lenka , Pruhova Stepanka , Kayserova Jana , Sedlacek Petr , Lebl Jan

Background: IPEX (OMIM #304790) is a rare and fatal, X-linked immune dysregulatory disorder caused by mutation in transcription factor FOXP3 that result in either quantitative or functional deficiencies of Tregs causing autoimmune disease and allergic inflammation. HSCT is the only curative therapy available for IPEX patients.Objective: Presented boy was born at 38th GW with birth weight 3380 g and birth length 50 cm. Three maternal brothers d...

hrp0086p1-p136 | Bone & Mineral Metabolism P1 | ESPE2016

Growth Characteristics of a Girl with Multicentric Carpo-Tarsal Osteolysis Caused by Novel Mutation in the MAFB Gene

Dusatkova Lenka , Potuznikova Kristyna , Zemkova Daniela , Marik Ivo , Rozenkova Klara , Lebl Jan , Pruhova Stepanka , Sumnik Zdenek

Background: Recently, mutations in the highly conserved transactivation domain of MAFB gene have been identified as a cause of multicentric carpo-tarsal osteolysis (MCTO), rare skeletal disorder characterised by extensive bone resorption predominantly of the carpal and tarsal bones and frequently accompanied by progressive renal impairment. The MAFB is a basic leucine zipper transcription factor that is involved in the regulation of osteoclastogenesis and renal develo...

hrp0086p1-p229 | Diabetes P1 | ESPE2016

Phenotypic Variability of Identical Mutations in the ABCC8 Gene in Two Families

Rozenkova Klara , Zapletalova Jirina , Dusatkova Lenka , Dusatkova Petra , Obermannova Barbora , Pruhova Stepanka , Lebl Jan , Sumnik Zdenek

Background: Mutations in the SUR1 subunit of the KATP channel encoded by the ABCC8 gene can result in diverse phenotypes ranging from Transient Neonatal Diabetes (TNDM) to type 2 diabetes in adulthood. These patients may benefit from sulphonylurea treatment.Objective and hypotheses: To describe the course of diabetes in two families with ABCC8 gene mutations and to assess the effect of sulphonylurea treatment.<p class="ab...