Bone Abstracts

Objectives: Neurofibromatosis 1 (NF1) is one of the most common autosomal dominant diseases. Skeletal involvement such as short stature, kyphoscoliosis, tibial bowing and pseudarthrosis are common osseous manifestations of NF1. Moreover, there is a growing evidence that reduced bone mineral density (BMD), is a common feature of NF1 subjects. The aim of the study was to evaluate the usefulness of Bone Mineral Density and Quantitative Ultrasound (QUS) at phalanxes in the assessm...

Objectives: Research studies confirm that children with osteogenesis imperfecta (OI) benefit from co-ordinated multidisciplinary services to optimise outcomes and reduce morbidity and mortality. Implementation of a tertiary paediatric centre of excellence within the Republic of Ireland is contentious due to the absence of data on the prevalence, service needs and medical requirements of these patients.Methods: A retrospective chart review of all patients...

Objectives: Fractures in older children are common, often related to physical activity. In contrast, fractures in infants are rare and especially those involving the femur (upper leg) are infrequent. Femoral fractures in young children are highly suspicious for non-accidental trauma, and screening for possible child abuse should be urgently carried out. However, some metabolic bone diseases, like osteogenesis imperfecta (OI), may predispose to fractures already in infancy and ...

Background: Asfotase alfa therapy improves clinical outcome in young children with severe form of hypophosphatasia (HPP). Treatment outcome in older children (≥12 years) has not been reported.Presenting problem: We report clinical outcome of a 16 year-old male with childhood HPP who started enzyme therapy at age 15 years.Clinical management: The patient was diagnosed with HPP at age 2 years when he presented with premature lo...

Objectives: Autosomal Dominant Hypocalcaemia (ADH) is due to gain-of-function mutations of the CASR resulting in constitutive activation of the GPCR Calcium Sensing Receptor (CaSR) leading to hypercalciuric hypocalcaemia, hypoparathyroidism and occasionally Bartter syndrome type V. Patients usually present with hypocalcaemic seizures at young age. Conventional treatment is with Alfacalcidol and Calcium or PTH injections. We describe a series of five patients with ADH ...

Objectives: Rickets is a disease of growing children with potentially serious short and long-term complications. The United Kingdom (UK) national incidence of Nutritional Rickets(NR) is unknown and thought to be increasing. This study aims to describe the incidence, presentation and clinical management of children with NR in the UK and Republic of Ireland.Methods: Data is being collected prospectively monthly between March 2015 and March 2017 from 3500 p...

Objectives: Poor bone health in boys with Duchenne Muscular Dystrophy (DMD) due to muscle weakness and glucocorticoid treatment is a major concern. This study assesses the bone health status in DMD boys with glucocorticoid treatment in a single centre.Methods: A retrospective chart review from January 2009 to January 2017 was undertaken on all DMD cases with active follow-up in a single paediatric unit in a University-affiliated hospital. We assessed the...

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...

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...

Objectives: Patients with anorexia nervosa (AN) are at high risk of reduced bone mass. The aim of this intervention study was to investigate the long-term effects on bone and body composition three years after intense weight gain therapy.Methods: Twenty-five female AN patients, mean age 20.1 years, mean BMI of 15.5 kg/m2, were included. Twenty-two patients fulfilled the treatment for 12 weeks with a high-energy diet. Body composition and bone ...