Bone Abstracts

Objectives: XLH is a rare, genetic, inherited disorder characterised by low blood phosphate which leads to inadequate mineralisation of bone, resulting in a spectrum of skeletal and functional muscle abnormalities, abnormal tooth development, physical and functional impairments. Treatment with conventional therapy places a significant burden on patients and families; it can require complex treatment dosage schedules, is often poorly tolerated, and can be associated with seriou...

Objective: Type 1 diabetes mellitus (TIDM) has been shown to adversely affect bone health in children. Hence, objective was to assess bone health status of children with T1DM, and to assess relationship between bone status and disease duration.Methods: Bone mineral content for total body (less head) (TBBMC) and lumbar spine was measured by DXA in 47 (25 boys) children with T1DM. Z-scores for TBBMC for bone area (TBBA), TBBA for height, lean body...

Objective: GH through IGF1 plays an important role in both bone growth and mineralization. This cross-sectional study was carried out to evaluate the relationship between serum IGF1 concentrations and dual energy X-ray (DXA) measured total body less head (TB) bone area (BA), lean body mass (LBM) and bone mineral content (BMC).Methods: One hundred and nineteen children (B=70, age =7.3–15.6 years) were studied for their anthropometric paramet...

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...

Objectives: Studies have reported prevalence of vitamin D deficiency in Indian children with adequate sunlight exposure (Harinarayan, 2008). The objectives of our study were to A) examine the prevalence of vitamin D deficiency in children with adequate sunlight exposure in a semi-rural setting in Western Maharashtra (18(°N), India and B) explore the association of serum 7-Dehydrocholesterol reductase (7-DHCR) with the serum vitamin D levels.Methods:...

We report a male child presenting with antenatally diagnosed bilateral talipes equinovarus, short stature, bilateral cryptorchidism and poor weight gain; born at 39 weeks gestation (birth weight 2.56 kg) to non-consanguineous Caucasian parents. Facial dysmorphism included a prominent forehead, brachycephaly, shallow orbits, a high anterior hairline, a narrow nasal bridge and small mouth with a thin upper lip. He had white sclera and was short for height (−4.4 SDS) with a...

Background: Valproic Acid (VPA) is a commonly used antiepileptic drug in the management of childhood epilepsy. Renal dysfunction presenting as Fanconi syndrome (FS) is a rare side effect of VPA use. This can lead to renal tubular phosphate loss, resulting in hypophosphataemic rickets, low bone mass and fractures. We report 6 children with VPA induced FS from three tertiary paediatric metabolic bone centres across England.Presenting problem: P1: Global de...

Background: Hypophosphatasia (HPP) is a disorder of bone mineralisation caused by deficiency of alkaline phosphatase (secondary to ALPL gene mutations), causing accumulation of inorganic pyrophosphate (PPi) thus inhibiting bone mineralisation. The perinatal form presents with severe manifestations at birth. Most severe skeletal manifestations are detectable by 20 weeks gestational age (GA) anomaly scan, and antenatal care within the UK practices routine detailed anoma...

Assessment of metaphyseal bone growth in children by peripheral quantitative computed tomography (pQCT) is limited by use of a thin (2.3 mm) 2D slice to represent the ~20 mm metaphyseal region within which there is substantial local variation in bone properties (Marjanovic et al., 2009). In addition, scan positioning is performed by manual visual growth plate identification from which a region located proximal to the growth plate at 4% of tibia leng...

Objective: The significance of low alkaline phosphatase (ALP) is often not recognised by clinicians. It is the hallmark of hypophosphatasia and this oversight leads to delays in diagnosis, inappropriate treatment and potentially harm. Using the standard that an abnormal result should be recognised by the clinician and the potential cause and need for further investigation documented in the medical records we conducted an audit of our practice at the Royal National Orthopaedic ...