ABSTRACT
OBJECTIVES: Nutritional rickets may be a preventable cause of craniosynostosis. This potential association is under-recognised. A late diagnosis of craniosynostosis may result in reduced brain growth, raised intracranial pressure and long-term psychosocial problems. CASE PRESENTATION: We present four cases of craniosynostosis associated with nutritional rickets. Those who had delayed presentation underwent emergency craniotomy. CONCLUSIONS: Treatment of nutritional rickets and early identification of craniosynostosis can reduce morbidity in these children.
Subject(s)
Craniosynostoses/pathology , Familial Hypophosphatemic Rickets/complications , Child, Preschool , Craniosynostoses/etiology , Female , Humans , Infant , Male , PrognosisABSTRACT
BACKGROUND: Health-related quality of life of adults with osteogenesis imperfecta (OI), fibrous dysplasia (FD) and X-linked hypophosphatemia (XLH) remains poorly described. The aim of this study was to describe the HRQoL of adults with osteogenesis imperfecta, fibrous dysplasia and X-linked hypophophataemia and perform a cost-utility simulation to calculate the maximum cost that a health care system would be willing to pay for a hypothetical treatment of a rare bone disease. RESULTS: Participants completed the EQ-5D-5 L questionnaire between September 2014 and March 2016. For the economic simulation, we considered a hypothetical treatment that would be applied to OI participants in the lower tertile of the health utility score. A total of 109 study participants fully completed the EQ-5D-5 L questionnaire (response rate 63%). Pain/discomfort was the most problematic domain for participants with all three diseases (FD 31%, XLH 25%, OI 16%). The economic simulation identified an expected treatment impact of +2.5 QALYs gained per person during the 10-year period, which led to a willing to pay of £14,355 annually for a health care system willing to pay up to £50,000 for each additional QALY gained by an intervention. CONCLUSIONS: This is the first study to quantitatively measure and compare the HRQoL of adults with OI, FD and XLH and the first to use such data to conduct an economic simulation leading to healthcare system willingness-to-pay estimates for treatment of musculoskeletal rare diseases at various cost-effectiveness thresholds.
Subject(s)
Familial Hypophosphatemic Rickets/physiopathology , Fibrous Dysplasia, Polyostotic/physiopathology , Osteogenesis Imperfecta/physiopathology , Quality of Life , Adolescent , Adult , Aged , Cross-Sectional Studies , Female , Humans , Male , Middle Aged , United Kingdom , Young AdultABSTRACT
The term 'bone strength' is often used to explain why some children's bones fracture while others do not. Bone strength describes the general integrity of bone; a complex organ with multiple structural levels and an array of biomechanical properties. Key biomechanical properties of bone include stiffness, toughness, ductility and mechanical strength. When measured in bone tissue, these properties are known as the intrinsic biomechanical properties of bone, while the extrinsic biomechanical properties reflect the structural behaviour of a whole bone. The fine balance between various and often opposing intrinsic and extrinsic biomechanical properties of bone is crucial for fracture resistance. When clinically evaluating a child with a fracture, an understanding of basic bone biomechanics helps determine the likely mechanism of injury and whether underlying reduced fracture resistance exists.
