ESPE Abstracts

Introduction: Hypophosphatasia (HPP) is the rare, inherited, metabolic disease with broad-ranging severity caused by inactivating mutation(s) in the tissue-nonspecific alkaline phosphatase (TNSALP) gene. In the childhood form of HPP, there are mineralization defects of the bones and teeth, often with impaired physical function, muscle weakness, and decreased growth. We previously reported sustained radiographic improvement in rickets compared to historical controls in 5–1...

Objective: To do longitudinal assessment of fat mass (FM)% of term, healthy Indian infants by stable isotope dilution method and skinfold thicknesses.Methods: Term healthy singleton newborns, with birth weight between 1.8 to 4.0 Kg, were followed from birth to 2 years. Anthropometry and skinfold thickness measurement at biceps, triceps, subscapular and supra-iliac sites was done serially at 10 days, 3 months, 1 and 2 years. Anthropometric data was conver...

Background: FOP is an ultra-rare, severely disabling genetic disorder characterised by progressive heterotopic ossification. The median age at diagnosis is 5 years and patients are supported by multiple specialties. We describe normal long bone growth changes and incidence of bone abnormalities in participants with FOP aged <18 years in a 3-year, prospective, global NHS (NCT02322255).Methods: Individuals with FOP age...

Background: Vitamin D is a steroid hormone which contributes to the maintenance of calcium homeostasis and bone mineralization. As bone mineral accretion occurs mostly during the third trimester of pregnancy, mineral storages are deficient especially in the extremely low birth weight (ELBW <1000g) preterm infants at birth. Recent studies suggest that ELBW is a risk factor for compromised bone mineral density at adulthood, but the role of neonatal morbidity ...

Introduction: Primary adrenal insufficiency (PAI) is a potentially life-threatening condition that requires appropriate diagnosis and treatment. The most common cause of PAI is congenital adrenal hyperplasia (CAH), but other well-established aetiologies include metabolic and autoimmune disorders, and physical damage. Mutations in more than 30 genes have now been associated with PAI, with considerable biochemical and phenotypic overlap. It is therefore importan...

Introduction: International guidelines for management of Duchenne Muscular Dystrophy (DMD) advise active screening for vertebral fractures (VF), complications of which include pain, scoliosis and impact on ambulation. Vertebral fracture assessment (VFA) is a technique of visualising thoracic and lumbar vertebrae with a lateral view on dual energy X-ray absorptiometry (DEXA) to identify VF. This is at reduced cost and radiation exposure when compared to spinal ...

Osteogenesis imperfecta is a hereditary connective tissue disease developing based on the structure or synthesis impairment of type 1 collagen and proceeding with diffuse osteoporosis, fragility, fractures and deformities in bones. Bone mineral density can be at normal or even high levels particularly especially in type I and XIII. Here, a 13 year-old boy diagnosed as osteogenesis imperfecta with normal bone mineral density was presented and treatment results were shared. A 13...

Direct relationships of estimated birth brain weight(BRW) to birth body weight (BW) ratios (BBR) and of BW<=10.th centile for GA(SGA) with blood serum Insulin-like Growth Factor-II(IG2) to blood serum Insulin-like Growth Factor Binding Protein-3 (IB3) ratios (IG2/IB3R), and inverse relations between BW-SDS and birth chest circumference(CC) / BW ratio (i.e., CC through BW; CC/BWR) have been detected by our group in the human newborn(NWB). We evaluated the possibility that CC...

Background: Obesity interventions often result in increased motivation to eat after weight loss.Objective: We investigated relationships between obesity outcomes and changes in brain activation by visual food cues and hormone levels in response to obesity intervention by family-based behavioral treatment (FBT).Design, Methods, and Participants: Functional neuroimaging and plasma ho...

Background: It is widely assumed that short stature can result in psychological, social, and physical problems. The validity and efficacy of GH in management of short stature is still debated.Aims: This study aimed to i) estimate the prevalence of short stature in preschool children (4–6 years), and determine the final diagnosis of abnormality based on different investigations, and ii) assess the impact of intervention for short stature among presch...