Bone Abstracts

Objectives: Children with Duchenne muscular dystrophy (DMD) receiving long-term glucocorticoid (GC) therapy are at risk for osteoporosis and fragility fractures. Recent studies showed that cortical thickness and areas were associated with increased fracture risk. Digital X-ray measurement of the cortical thickness of the metacarpal bones has a potential role as a marker for bone health in children, but has not been evaluated in DMD. The aim of this study was to compare bone ag...

Objectives: Examine changes in volumetric BMD and cortical structure following Crohn Disease (CD) diagnosis, and identify associations with growth, glucocorticoid exposure and disease activity.Methods: Prospective cohort study in 76 CD participants, ages 5–21 years. Tibia pQCT scans were obtained at diagnosis, 6, 12 and a median of 42 months later. Sex, race and age-specific Z-scores were generated based on >650 controls. Cortical dimen...

Background: Boys with muscular dystrophy as presented by Duchenne muscular dystrophy (DMD) lose muscle strength and are usually confined to a wheelchair until 13 years. Furthermore they often have development of myogenic scoliosis, and scoliosis surgery is necessary to acquire sitting balance. Osteoporosis is one of the major concerns to perform surgical treatment. Patients with DMD or congenital muscular dystrophy (CMD) have fragile bones due to loss of ambulation, glucocorti...

Objectives: We recently identified a heterozygous missense mutation c.652T→G (p. C218G) in WNT1 as the cause of severe primary osteoporosis (Laine et al. New Engl J Med 2013). The mutated WNT1 reduces activation of the canonical WNT1/β-catenin-signaling, resulting in decreased osteoblastic function. The mutation was originally identified in a large Finnish family presenting with dominantly inherited, early-onset osteoporosis, with affected...

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...

Introduction: Presence of osteosynthetic material in the spinal region may result in decreased musculoskeletal activity in certain spinal column segments, leading to vertebral bone mineral density changes.Case study: The case involves a 12-year-old girl who was born prematurely, who complained of experiencing lower back pain after performing forward roll in the physical education class. The patient was born at 32 weeks of gestation by pelvic presentation...

Gross motor development is positively associated with bone mineral density in teenagers and is thought to be mediated by lean mass. Age at walking is an accepted milestone in motor development, achieved by 50% of infants by 12 mo of age according to the WHO Motor Development Study.Objective: To examine if walking within 12 mo of age is related to bone mineral density (BMD) and if this relationship is mediated by lean mass.Methods: ...

Background: Lysinuric Protein Intolerance (LPI) is a rare autosomal recessive metabolic disorder affecting amino acid transport. The condition typically presents at weaning, with recurrent diarrhoea and vomiting especially following protein rich meals. It may have a multisystem clinical presentation including growth and haematological abnormalities and rarely osteoporosis. The diagnosis is based on biochemical findings, including increased urine and reduced plasma concentratio...

Objectives: Simultaneous pancreas kidney transplantation (SPKT) is a standard treatment option for adults with long-lasting (usually adolescence onset) type 1 diabetes (T1D) and concurrent renal failure. Despite the need for life-long immunosuppressive therapy the patients achieve better glycemic control, normalized renal function and an improved quality of life. Whether metabolic improvement is also reflected in the skeleton is not yet clear.Methods: Pa...

Objectives: Bone disease is a long-term complication in patients with thalassaemia and therefore current UK guidelines recommend biannual bone density assessment from the age of 10 years. The aim of this study was to evaluate bone health in children with thalassaemia major.Methods: Twenty-nine patients (11 boys) with a mean (S.D.) age of 13.07 year (2.29) with thalassaemia major had measurement of lumbar spine BMAD (L2-L4) and of total bod...