Bone Abstracts

Loss of genomic maintenance contributes to aging, as exemplified by mutations in Ercc DNA repair proteins that lead to a plethora of progeroid syndromes of which some display accelerated bone loss. It is generally accepted that dietary restriction (DR) increases life span and improves organ function. We therefore assessed the impact of DR on life span and bone mass in WT and bona fide prematurely aging hypomorphic Ercc-deficient mice (Ercc1−/Δ).<...

Background: We present a case of unusual delayed multi-systemic reaction, following treatment with Pamidronate. The reaction, resembling rhabdomyolysis, requiring intensive care support, has not been reported previously to our knowledge.Presenting problem: An 11 month old boy with severe osteogenesis imperfecta (OI) presented with hyperpyrexia and respiratory distress 10 days after his fifth cycle of Pamidronate. He had significant derangement of his bio...

Objectives: Patients with beta Thalassemia have been reported to have low bone mass; poorly chelated patients are likely to be at an even higher risk. Pubertal delay, hypogonadism, and reduced physical activity and sunlight exposure are likely to be additional contributors to poor bone health and increased fracture risk. The objective of our study was to assess the prevalence of fractures in Indian underprivileged, poorly chelated thalassaemic children.M...

FOP is an autosomal dominant disorder characterized by early onset, episodic and progressive ossification of skeletal muscle and associated connective tissue. FOP is driven by mutations in the intracellular domain of ACVR1 (ALK2), the most common of which is R206H. However, rare FOP causing mutations exist throughout the GS and the kinase domain of Acvr1. Several of these mutations result what appears to be a more severe FOP phenotype that includes significant developmental ab...

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....

Objectives: The in-utero environment affects fetal development and health and disease risk in adulthood1. Maternal obesity during pregnancy is associated with low-grade inflammation and long-term offspring health risks2. Pro-inflammatory adipocytokines (TNF-α/IL-6) are linked with later obesity, insulin resistance and osteoporosis3 4, while low early-life bone mineral content (BMC) is associated with osteoporosis5. We assessed the impact o...

We have reported femoral osteopenia in short term-vitamin D restricted rats without deterioration in tibial cortical bone volume (CBV), geometry or strength1. This study aimed to establish the effect of extended vitamin D deficiency in aged rat tibial volume and strength. Female Sprague-Dawley rats (9 m, n=6/group) were fed a diet containing varying vitamin D3 (D) levels (0, 2, 12, and 20 IU/day) with either low (0.1%, LCa) or high (1%, HCa) diet...

Bisphosphonates are the mainstay of medical therapy in the fracturing child with osteoporosis. The majority of the data in children pertains to i.v. pamidronate use in children and adolescents with osteogenesis imperfecta (OI), where pamidronate has been associated with improvements in bone mineral density, cortical thickness, vertebral shape, pain, mobility and height.1 Side-effects of pamidronate including acute phase response to the initial dose and retardation o...

Objective: Low dietary calcium intakes and increasing adiposity in Indian adolescents may increase their risk of hypertension (Sanwalka et al., Asia Pac J Clin Nutr. 2010, Khadilkar et al., Int J Pediatr Obes. 2010). Therefore, the aim of the present study was to explore association of dietary calcium intakes and body composition with blood pressure in 10–14 year old Indian adolescents.Method: 370 apparently healt...

Background: Congenital multiple hormone deficiency (CMHD) is a rare condition caused by mutations in transcription factors involved in pituitary ontogenesis1. Incidence of mutations in POU1F1 gene in results between 3.8 and 7.7%2. POU1F1 gene mutations lead to somatolactotroph and thryotroph deficiencies. Brain MRI can be normal or shows pituitary hypoplasia without extrapituitary anomalies.Presenting problem: We describe the growth...