Bone Abstracts

Classical vitamin D biology relates the active hormone, 1,25-dihydroxvitamin D3, to promotion of calcium homeostasis through actions on the intestine and bone, and regulation of parathyroid hormone production and release. Added to this classical action of vitamin D is the up-regulation of FGF23 production and release by osteocytes as a means of regulation of circulating levels of vitamin D by reducing kidney synthesis of 1,25-dihydroxvitamin D3 and increa...

Childhood and adolescence are critical periods for optimizing bone growth and mineral accrual. Bone strength is determined by bone size, geometry, quality, and mass – variables that are influenced by genetic factors, physical activity, nutrition, and pubertal hormones. Duchenne muscular dystrophy (DMD) and cerebral palsy (CP) are two chronic medical conditions of childhood associated with reduced mobility and increased rate of pathological fracture....

Selenium (Se) is an essential trace element active in the catalytic sites of many redox enzymes, including glutathione peroxidase and the iodothyronine deiodinases that metabolize thyroid hormones. In humans 25 genes encode selenoproteins, in which a specific tRNA incorporates the amino acid selenocysteine during protein translation. Although specific roles for many selenoproteins are unclear, studies suggest an important role for Se in skeletal development and bone maintenanc...

Hypothyroidism delays bone development and linear growth, whereas thyrotoxicosis accelerates skeletal development and is an important risk factor for osteoporosis in adulthood. Even sub-clinical thyrotoxicosis is associated with fracture, and treatment with thyroxine at doses that suppress TSH results in increased bone turnover and low BMD in postmenopausal women.To investigate the mechanism of T3 action in the skeleton, we characterized mice ...

Objectives: To identify and determine the extent to which effective/ineffective steps in the implementation of the Kaiser Permanente Southern California Healthy Bones Model of Care were perceived by physician champions and Healthy Bones Care Managers.Methods: The subjects in the study included 20 Physician Champions and 35 Healthy Bones Care Managers employed in the Kaiser Permanente Southern California Healthy Bones Model of Care.25 have been employed i...

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...

Objectives: Deteriorating bone mineral density and fragility fractures are common complications of Duchenne Muscular Dystrophy (DMD). This study aims to evaluate the effects of bisphosphonate therapy and testosterone supplementation (for pubertal induction) on the bone health of children with DMD.Methods: This retrospective cohort study examined the clinical records of children with DMD managed at the Neurogenetics and Endocrine clinics at The Children&#...

Objectives: To evaluate the diagnostic outcomes of massively parallel sequencing (MPS) and identify genotype-phenotype correlations in children and adolescents with recurrent fractures.Methods: A retrospective chart audit was conducted of children and adolescents referred to the endocrine clinic at a tertiary children’s referral hospital with a history of recurrent fractures. Phenotypic data including fracture history, bone mineral density (BMD) and...

Background: Pamidronate is FDA approved only in adults. It is frequently used off-label in the treatment of pediatric bone diseases, such as osteogenesis imperfecta, juvenile osteoporosis, and osteopenia in nonambulatory patients with cerebral palsy. The use of pamidronate in these conditions is relatively common, but there may be more to be understood about its role in other rare pediatric bone diseases.Presenting problem: Jansen’s Metaphyseal Chon...

Objectives: To evaluate the clinical outcomes of intravenous bisphosphonate treatment in children with mild-moderate osteogenesis imperfecta (OI) who had progressed from active bisphosphonate treatment to maintenance therapy for >2 years.Methods: A retrospective review was conducted on 17 patients with mild-moderate OI. Clinical data, fracture history, biochemistry, dual energy X-ray absorptiometry (DXA) parameters, vertebral measurements, bone age a...