Bone Abstracts

Background: Weyers acrofacial dysostosis (WAD, OMIM 193530) is a rare autosomal dominant disease, characterized by mildly short stature, postaxial polydactyly, nail dystrophy and dental anomalies. WAD should be distinguished from Ellis-van Creveld syndrome (OMIM 225500), a similar but more severe disease, comprising chondrodysplasia, orofacial anomalies and, in a proportion of patients, cardiovascular malformations. Both diseases are caused by mutations in either EVC or EVC2<s...

There is discussed an interrelation of BMD, progressing of erosive and destructive changes in hands and feet with development of vertebral deformations in rheumatoid arthritis (RA).The aim: To receive data on bone mineral density (BMD), erosive and destructive changes in hands and feet and vertebral deformations in patients with RA.Materials/methods: In this research, it was included 106 women, with RA, age 23–69 years. In all...

Background and aims: Bone and joint infections like osteomyelitis and septic arthritis occur in ~3–12/100.000 children per year in high-income countries with predominance in males. The most common causative pathogen is Staphylococcus aureus, however, only in 50% pathogen detection succeeds. The aim of this study is to describe clinical characteristics of osteomyelitis and septic arthritis in children recruited within the EUCLIDS network (<a href="http://www.eucli...

Objective: To establish the difference between deficiency, insufficiency and normal results of vitamin D according to severity of motor function disorder and the level of bone mineral density in children with cerebral palsy.Methods: Investigation encompassed 23 children, both genders, between 6 and 17 years of age, with diagnosed cerebral palsy, who were hospitalized between January 1 and December 31, 2014. Bone mineral density (BMD) was established usin...

Objective: The aim of the study was to establish effect of nutritional status on bone mineral density in children with cerebral palsy.Methods: The nutritional status was established in 23 children, both genders, with cerebral palsy, who were hospitalized at the Clinic for children habilitation and rehabilitation and at the, ‘Veternik’ Home, between January 1 and December 31, 2014. Evaluation of nutritional status has been done based on BMI. BMI...

Objective: Investigate bone mineral density in children with cerebral palsy (CP) with special focus on severe forms of CP.Methods: Investigation encompassed 23 children, both genders, between 6 and 17 years of age, with diagnosed cerebral palsy, who were hospitalized between January 1 and December 31, 2014. Bone mineral density (BMD) was established using Dual-energy x-ray Absorptiometry – DXA method, at L1–L4 lumbar vertebrae and at the femur ...

Sclerosing bone dysplasias (too much bone diseases) are divided into two major groups, one group caused by impaired bone resorption and the other by increased bone formation. The former comprises a group of osteopetrosis (disorders due to abnormal osteoclastogenesis or osteoclast dysfunction) with relatively homogeneous skeletal phenotypes. By contrast, the latter encompasses a complex group of disorders with heterogeneous pathogeneses and diverse skeletal phenotypes.<p cl...

Introduction: Collagen induced arthritis (CIA) is a mouse model of rheumatoid arthritis marked by persistent inflammation and enhanced osteoresorption at the affected joints as well as systemic osteopenia due to increased activation of osteoclast progenitors (OCP). Abundantly secreted chemokines presumably attract OCPs to the inflamed sites. Our goal was to identify chemotactic signals important for OCPs recruitment in CIA.Methods: After obtaining approv...

Background: Fracture incidence rate and growth according to different glucocorticoid (GC) regimen in Duchenne Muscular Dystrophy (DMD) is currently unknown.Objective: To determine the extent of skeletal morbidity and the influence of GC regimen on fracture incidence rate and growth in a contemporary cohort of DMD in the UK.Method: Clinical details of 832 boys with DMD in the North Star database (2006–2015) from 23 centres were...

Objectives: In XLH, FGF23-mediated hypophosphatemia leads to defective bone mineralization and rickets. Investigational product KRN23 binds FGF23 and inhibits its activity. The objective of this Phase 2 study was to evaluate the safety and efficacy of KRN23 in 52 children with XLH (ages 5–12 years, ≤Tanner 2).Methods: Patients were randomized to receive KRN23 biweekly (Q2W) or monthly (Q4W) by SC injection. KRN23 dose was titrated (maximum 2 m...