Bone Abstracts

Background: Bone involvement in patients with β-thalassemia is well known, but only few studies have analyzed bone microarchitecture and the prevalence of intervertebral disc calcifications (IDCs) in these patients. The aim of our study was to evaluate the bone quality in a group of patients with β-thalassemia in terms of geometry and microarchitecture properties; moreover, we evaluated the presence of IDCs in these patients.Material and method...

Introduction: Osteogenesis imperfecta is a rare constitutional bone disease. The bone matrix is poor because of the often mutation on the gene coding for collagen I, leading to many fractures. Classification Sillence completed by Glorieux, describes the clinical variability. The management should be done case by case.Study objective: Evaluate the clinical profile, biological and radiological of 5 newly diagnosed cases.Material and ...

Background: The clinical presentation and the clinical phenotypic characterization and the natural history of Fibrodysplasia Ossificans Progressiva (FOP) is diverse and the natural history of the disease is to certain extent different from one patient to another.Methods: In a series of eleven patients age range from 0 to 16 years (eight girls and three boys), variable clinical presentations were the landmark of these patients. At birth, all our patients ...

Cherubism is a rare genetic disease (OMIM #118400) characterized by a massive jaw bone osteolysis. This pathology appears around 2–5 years old and in the less severe cases spontaneously regresses after puberty. So far the only treatment available is surgery, often disabling and traumatic. As the cherubism pathophysiology is not yet understood, we carried out a thoroughly characterization of the cherubism granulomas from ten unrelated patients to determine the cells involv...

Hypophosphatasia (HPP) is the rare inherited metabolic disease caused by loss-of-function mutations in the tissue-nonspecific alkaline phosphatase (TNSALP) gene. TNSALP deficiency leads to extracellular excess of inorganic pyrophosphate, a bone mineralization inhibitor. Here, we report the validity and reproducibility of a novel scale to quantify HPP-specific radiographic changes in pediatric patients.The Radiographic Global Impression of Change (RGI-C) ...

Background: Fractures are common injuries during childhood. Incidence rates and patterns varies, but population-based data are scarce. The aim of this study was to describe a population based sex, age and maturation specific incidence of fractures at different anatomical sites in a representative sample from regions above the Arctic Circle.Methods: All fractures in the population based convenient cohort Fit Futures, comprising 1038 adolescents mainly bor...

Objectives: For paediatric patients with hypoparathyroidism, genetic defects should be considered firstly. This study was to investigate the clinical features and analyse gene mutations of Chinese patients with child-onset hypoparathyroidism.Subjects and methods: We enrolled 35 paediatric patients with hypoparathyroidism at our clinical centre between 1984 and 2014. Clinical characteristics were collected and Targeted next-generation sequencing (NGS) was...

Context: Primary hyperparathyroidism (PHPT) in children is thought to be extremely rare. We reviewed our experience with PHPT to better characterize these patients.Objective and methods: A total of 62 patients (<18 years) treated in our hospital were respectively analysed to summarize the clinical characterization and molecular genetics in this rare condition in Chinese. The study was approved by the local Ethics Committee of our center.<p class=...

Children and adolescents with inflammatory bowel disease (IBD) have defects in bone mineral density (BMD) and bone structure that do not completely normalize with clinical remission.The objective of the study was to determine bone turnover marker (BTM) concentrations and factors behind altered bone metabolism in a case-control setting.We measured the bone formation marker PINP and bone resorption markers CTX and TRACP5b in 42 adole...

Low bone mass is a frequent complication of subjects with Rett syndrome. It is well known that many factors such as the use of anticonvulsant drugs, the presence of scoliosis, the nutrition status, the low levels of 25OHD and the ambulatory impairment influence the attainment of peak bone mass in Rett subjects. This study aimed to investigate the long-term influences of mobility on bone status in girls with Rett syndromeIn 47 girls with Rett syndrome, se...

Pseudovitamin D-deficiency rickets (PDDR) is a rare autosomal recessive disorder resulting from a defect in renal 25-hydroxyvitamin D 1α-hydroxylase, which is encoded by the CYP27B1 gene. To our best knowledge, 48 mutations of the CYP27B1 gene have been identified so far. In the present study, we investigated CYP27B1 mutations in seven individuals from six separate families and identified nine different mutations: two novel missense mutations (G194R, R259L), three novel a...

We analyzed body composition (DXA, Hologic) in 334 young patients (aged 3–24 years) with chronic diseases, most of them on long-term glucocorticoid (GC) treatment, and monitored its changes over 3–14 years (6.9±6.2 years).Bone mineral content (BMC), fat mass (FM) and fat-free mass (FFM) were measured on total body (TB), trunk, upper limbs, lower limbs. BMC, FM, FFM were expressed as percentages and compared with age- and sex-matched health...

Bruck syndrome, a disorder caused by bi-allelic mutations in either PLOD2 or FKBP10, is characterized by flexion contractures and bone fractures and shows strong clinical overlap with the brittle bone disease Osteogenesis Imperfecta. PLOD2 encodes the Lysyl hydroxylase 2 (LH2) enzyme, which is responsible for the hydroxylation of lysine residues in the type-I collagen telopeptides. This hydroxylation directs cross-linking of the collagen fibrils in t...

Early-onset primary osteoporosis is characterized by low bone mineral density (BMD) and increased tendency to fractures in young people. Studies on rare bone diseases, such as osteogenesis imperfecta (OI), have identified several new genes associated with early-onset skeletal fragility. This study aimed to explore the role of variation in the cartilage-associated protein (CRTAP) gene in early-onset osteoporosis and/or recurrent fractures. We first used homozygosity ma...