Bone Abstracts

Introduction: ENPP1 Deficiency manifests as GACI type 1 in infants, a disorder characterized by extensive arterial calcifications and stenoses, often fatal in utero or in early infancy. Beyond six months, the mortality rate significantly decreases among survivors, who may later develop ARHR2, characterized clinically by short stature, bone deformities and pain. ABCC6 Deficiency also manifests as GACI type 2 in infants and is clinically indistinguishable from GACI type 1. Anima...

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Sclerostin (SCL) and FGF23 are osteocyte-secreted factors with a major role in bone homeostasis. Despite their skeletal effects and their association with fracture risk in some studies, variations in circulating levels were also described in patients with diabetes (DM), chronic renal failure (CRF) and/or cardiovascular disease (CVD). In order to provide further insight on the relationship between these osteocyte-derived factors, osteoporosis and cardio-metabolic disorders we a...

Background: Pathophysiological calcification in the vasculature is a risk factor for cardiovascular disease (CVD). CVD are among the most common causes of death in patients with chronic kidney disease and crucial for kidney transplantation (RTX) outcomes.Aim: The aim of this study is to identify differences in the pattern and the onset of expression of regulators of calcification (RC) in atherosclerosis (AS) and media sclerosis (MS).<p class="abstext...

Objectives: To evaluate musculoskeletal trajectories in children with newly diagnosed Crohn’s disease (CD), and to determine whether children treated with anti-tumour necrosis factor-alpha antibody (anti-TNF, TREATED vs NAÏVE) had persistent deficits at two years.Methods: This was a single-centre prospective, observational inception cohort study. Children with CD underwent assessments within 6.5±9.5 days from diagnosis and annually for two...

Objectives: We sought to identify the disease-causing mutations in two unrelated girls with a clinical diagnosis of osteogenesis imperfecta type IV.Methods: Whole-exome sequencing and cellular studies in skin fibroblasts were conducted.Results: We identified two homozygous variants in SPARC (NM_003118.3; c.497G>A (p.Arg166His) in individual 1; c.787G>A (p.Glu263Lys) in individual 2). Secreted protein, acidic, cyste...

Objectives: Osteoporosis is a frequent cause of morbidity in boys with glucocorticoid (GC)-treated Duchenne Muscular Dystrophy (DMD). We sought to determine the frequency and characteristics of the two most debilitating types of fractures, vertebral and long bone (VF and LBF), in pediatric DMD.Methods: This was a prospective, bi-centre, single-visit observational study in boys 4 to 17 years of age with genetically-confirmed DMD. The bone health assessmen...

Chronic kidney disease (CKD) is defined according to the presence of kidney damage and level of kidney function – irrespective of the type of kidney disease (diagnosis). Among individuals with chronic kidney disease, the stages are defined based on the level of glomerular filtration rate. From infancy through young adulthood, the major causes of CKD arise from congenital abnormalities of the kidneys and urinary tract (CAKUT), acquired or congenital forms of nephrotic synd...

Intravenous (IV) bisphosphonates (pamidronate, zoledronic acid and neridronate) are the mainstays of medical therapy for numerous pediatric bone diseases. While most frequently prescribed for hypercalcemic disorders and osteoporosis, their potent analgesic effects have also led to their use in fibrous dysplasia, osteonecrosis, sickle cell disease, chronic non-bacterial osteomyelitis, and complex regional pain syndrome. Bisphosphonates given IV are highly effective in preventin...

Objectives: Within the National Health Service there is a recognised need for supporting young peoples transition into adult services1. Focus groups and forums have historically been used to identify how to achieve ‘good’ transition between services, from the perspective of patients, carers and professionals. A recent article recommended an individualised programme supporting transition for young people with osteogenesis imperfecta (OI)2. The ai...