Bone Abstracts

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Over the past two years we have continued to see new developments and findings in paediatric bone disease that will help change and modify our clinical practice. I have selected some pertinent publications and divided these into different themes that I intend to highlight in this presentation. These include:(1) New treatment options – Burosumab for X-linked Hypophosphataemic Rickets and Anti-Sclerostin antibody for Osteogenesis Imperfecta.<p cla...

Mechanical stimulation generated by fetal kicking and movements is known to be important for prenatal musculoskeletal development. The most common human condition in which there is a link between abnormal fetal movements and delayed or impaired skeletal development is developmental dysplasia of the hip (DDH). DDH is a hip joint shape abnormality, with risk factors being associated with restricted fetal movement, such as fetal breech position and oligohydramnios. Evidence sugge...

Mechanical loading exerts a major influence on the size, shape and structure of the skeleton attained in early adulthood, an important determinant of osteoporotic fracture risk in later life. In studies of exercise interventions in children intended to optimise skeletal development, activities associated with relatively high impacts are generally more effective, in line with findings from laboratory studies that bone is exquisitely sensitive to high impacts producing transient...

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Rickets and osteomalacia are caused by calcium deprivation, meaning the body has insufficient calcium supply and the resulting secondary hyperparathyroidism leads to excessive bone resorption and, via renal phosphate wasting, also to hypomineralization of bone and growth plates. The two main environmental causes of calcium deprivation are dietary calcium deficiency and solar vitamin D deficiency. The environmental nature of rickets and osteomalacia is undisputed. On a global s...

In Canada, and many other countries, a vitamin D supplement of 400 IU/day is recommended for breastfed infants and staple foods are fortified with vitamin D in accordance with public health policy for the primary prevention of rickets. Both vitamin D receptors and 1-alpha hydroxylase enzymes are expressed in human muscle, implicating vitamin D status and metabolism in growth and development. In a randomized dose response study of vitamin D supplementation (400, 800, 1200, or 1...

Vitamin D deficiency in pregnancy is common, and is linked to increased risk of adverse outcomes including preterm birth, preeclampsia, infection, gestational diabetes and asthma. Vitamin D possesses well-recognized immunomodulatory functions, and programming of the immune system during foetal development can influence asthma-related risk factors and health outcomes in later life. We hypothesized that influencing vitamin D status during pregnancy would impact the immune profil...

Osteoclasts are giant multinucleated skeletal cells of hematopoietic origin primarily responsible for bone resorption. Their functional impairment disturbs bone homeostasis and, to a variable extent, a number of other processes, such as growth, hematopoiesis and immune function. The accumulation of bone tissue owing to failure in bone resorption results in increased bone density, which is the hallmark of osteopetrosis (OP), a heterogeneous group of monogenic disorders with aut...

Bone tissue homeostasis requires the coordinated activity of osteoblasts, the bone forming cells, of osteoclasts, the bone resorbing cells, and of osteocytes, generally referred as the bone mechano-sensors. In this contest, osteoblasts are the mesenchymal cells secreting the extracellular matrix components on which hydroxyapatite crystals are then deposited. The most abundant protein of this organic matrix is type I collagen, a heterotrimeric secretory protein, synthesized as ...

The circadian clock network is an evolutionally conserved system by which organisms adapt their metabolic activities to the environmental inputs including the availability of nutrients. The master pacemaker of circadian clock system is located in the suprachiasmatic nucleus (SCN) and is well known to play pivotal roles in metabolic regulations including skeletal and mineral metabolisms. In addition to the central pacemaker, peripheral tissues also possess its own circadian sys...

I. HistoryII. How the bisphosphonates changed the management plan?In babies No need to rod non walking childrenIn toddlers More Upper extremity surgeriesLong-term problems: Risk of delayed non-union:Several measures were introduced to limit the risk (no Bisphosphonates 48 hours pre-op, and 4 months post-op) as well as technical ad...

Craniosynostosis, defined as the premature closure of one or more of the cranial sutures, is a rare disease. It can be isolated or associated to some craniofacial syndromes. In some instances the craniosynostosis can be secondary to specific skeletal disorders such as hypophosphatemic rickets, hypophosphatasia, achondroplasia, mucopolysaccharidosis, osteopetrosis etc. In this evenience, the consequences of the craniosynostosis can be extremely variable depending on the underly...

To point out common patterns of malalignment and deformity in hypophosphatemic rickets and describe treatment principles and techniques as well as common obstacles.Methods: Deformities of the lower limb in hypophosphatemic rickets do not resolve spontaneously under metabolic control of the disease. To prevent severe deformity and joint overload in the growing child guided growth has been shown to be effective in most cases. As recurrence of malalignment ...

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Achondroplasia is the most common form of short-limbed dwarfism with a frequency of 1 in 10,000 to 30,000 births. Although it can be inherited in a autosomal dominant manner, 80% of the cases are sporadic. Achondroplasia is classified as one of the FGFR3 chondrodysplasias and more than 97% occur from an activating mutation at residue 380 (p.R380G) of the FGFR3 gene. Current treatment of achondroplasia is mainly directed at prevention and treatment of its complications (obstruc...

Osteogenesis Imperfecta (OI) is characterized by low bone mass, reduced bone strength and fractures. About 90% of OI cases are caused by autosomal dominant mutations in type I collagen (COL1A1 and COL1A2). Recessive OI can be caused by mutations in members of the prolyl-3-hydroxylation complex, including cartilage associated protein (CRTAP), that is important for post-translational collagen modification. The phenotypic overlap between dominant and recessive OI suggests common ...

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...