Bone Abstracts

Background: Mutations in the ENPP1 gene have been identified in individuals with generalized arterial calcification of infancy (GACI), a life-threatening disorder characterized by calcification in the blood vessels, because of reduced availability of pyrophosphate. We describe a case of GACI due to a novel ENPP1 mutation.Presenting problem: The patient, born at term to non-consanguineous parents, was referred to us at birth with weak femoral pulses for e...

Objectives: We recently demonstrated that cow’s milk allergic infants who received an amino acid-based formula (AAF) for 16 weeks as oral feeding had adequate mineral status (1). One factor that may negatively affect mineral solubility and bioavailability and hence mineral status, is high gastric pH (2), but data on this in infants are lacking. Therefore, the present study evaluates serum concentrations of phosphorus, calcium and magnesium in a subgroup of infants on AAF ...

Objectives: To characterize clinical features and long-term outcome of CRMO, a rare inflammatory bone disease of childhood and adolescence, which forms part of the spectrum of chronic non-bacterial osteomyelitis (CNO).Methods: We studied 33 patients with an established diagnosis of CRMO followed at the Centre for Bone Quality of the Leiden University Medical Center from 1994 to 2018. Demographic and clinical data were collected at presentation and last f...

Background: Primary tumoral calcinosis is an orphan disease. The data about the incidence of this disease, as well as clinical recommendations for treatment are not presented in the literature.Presenting problem: Two patients – 11.5 years old boy and 8 years old girl with primary tumoral calcinosis had multiple foci of the subcutaneous calcification, walking impossibility, wheel-chair condition, fatigue, high fever and equinus deformity of the left ...

Vertebral fractures (VF) defined by morphometric analysis of spine radiographs are the most common complication of osteoporosis. Those that come to medical attention, with symptoms such as back pain and kyphosis are termed clinical vertebral fractures (CVF) and account for significant morbidity and mortality. Although much progress was made in identifying loci for bone mineral density, the genetic determinants of CVF remain unclear. Here we present the initial results from a g...

Peripheral quantitative computed tomography (pQCT) is receiving considerable attention in the diagnosis and monitoring of human bone diseases. It is well accepted that lower image resolution compared to micro-computed tomography (micro-CT) affects bone morphometry. With advances in micro-CT evaluation techniques such as sample-specific remodeling simulations or dynamic bone morphometry, there is the potential to also allow the application of such techniques to clinical pQCT sc...

Interleukin- 34 (IL34) is a new, challenging cytokine discovered in 2008. It promotes the proliferation, survival and differentiation of the monocyte/macrophage lineage with almost the same efficiency as the macrophage-colony stimulating factor (M-CSF). IL34 has already been described to play a key role in various musculoskeletal bone diseases such as bone giant cell tumors or in rheumatoid arthritis. These ‘twin’ cytokines share a lot of functional similarities whic...

Objectives: Low bone mass in adolescent idiopathic scoliosis (AIS) has been well reported, however the etiologies of the disease and this abnormal phenotype were still unknown. Leptin have profound effects on bone metabolism and skeletal growth, and was speculated to play a role in the etiopathogenesis of AIS. The objective of this study was to investigate the bone quality in AIS and its association with leptin and soluble leptin receptor (sOB-R).Methods...

Objectives: High resolution peripheral quantitative computed tomography (HR-pQCT) was used to evaluate bone quality and volumetric bone mineral density (vBMD). However, manufacturers only provide a standard protocol for adult but not for growing subjects. The aim of this study was to investigate the difference on measurement between two different HR-pQCT scanning protocols in adolescence with unfused growth plate.Methods: 27 boys and 26 girls aged 13&#15...

Bone has recently emerged as a novel endocrine organ regulating glucose metabolism. Ectonucleotide pyrophosphatase/phosphodiesterase-1 (NPP1) controls bone mineralisation by generating the mineralisation inhibitor pyrophosphate. In clinical studies increased activity of NPP1 has been found in patients with insulin resistance, and it has been shown to directly inhibit the insulin receptor. We hypothesised that mice lacking NPP1 (Enpp1−/−) would exhibit im...