Bone Abstracts

Bisphosphonates (BPs) are used to treat bone diseases characterized by excessive bone resorption. However, BPs can negatively affect the jaw bone by causing osteonecrosis of the jaw. Previously, we showed that BPs differently affect long-bone and jaw osteoclast precursors. Administration of BPs in vivo reduced the number of jaw bone marrow cells, without affecting long-bone marrow cells. Yet, BPs increased bone volume and mineral density of both long bone and jaw. Her...

Biographical DetailsHans van LeeuwenHans (J.P.T.M.) van Leeuwen studied biology in Amsterdam, and did his PhD study on the mechanism of action of PTH in Leiden, The Netherlands. Currently he is professor at the Erasmus University Medical Center in Rotterdam, The Netherlands, leading the research program on Calcium and Bone Metabolism. Main research ...

About two decades ago, evidence was generated that canonical Wnt signaling plays an important role in bone accrual mainly based on the identification of mutations in genes from the Wnt pathway resulting in extremely low or high bone mass. Since then, it became clear that genetic variation in a lot of genes from this pathway have an influence on bone mass both in a number of skeletal dysplasias as well as in the general population. This is the case for a number of wnt ligands (...

Objectives: To elucidate the incidence and risk factors of skeletal toxicity in children with ALL treated with the dexamethasone-based DCOG-ALL9 protocol.Methods: Prospectively, the cumulative incidence of fractures was assessed in 672 patients and compared between different subgroups using the log-rank test. Serial measurements of bone mineral density of the lumbar spine (BMDLS) were performed in 399 ALL patients using dual energy X-ray absor...

Infantile spinal muscular atrophy X-linked 2 (SMAX2) is a rare form of spinal muscular atrophy manifesting in severe hypotonia, areflexia, arthrogryposis, facial weakness and cryptorchidism, as frequently accompanied by bone fractures.We present a boy patient with SMAX2 who presented typical symptoms from birth, as preceded by reduced fetal movements in the second and third trimester of pregnancy. In the first days of life the patient was found to have s...

Background: Long-term use of bisphosphonates has raised concerns about the association with Atypical Femur Fractures (AFFs) that have been reported mainly in postmenopausal women.Clinical case: An 18-year-old patient with juvenile osteoporosis based on X-linked osteoporosis due to a PLS3 mutation developed a low trauma femoral fracture after seven years of intravenous and two years of oral bisphosphonate use, fulfilling the revised ASBMR diagnostic crite...

High resolution peripheral quantitative computed tomography (HR-pQCT) in combination with micro finite element analysis (μFEA) is a promising tool to assess longitudinal changes in bone mechanical properties during the fracture healing process in the distal radius. In the present study we investigate if these changes can be detected as well when using images with lower resolutions, comparable to clinical QCT images.Postmenopausal women with a stable...

Background: Mutations in the PLS3 gene, encoding plastin 3, cause X-linked osteoporosis. Osteoporosis is characterized by low bone mineral density (BMD) and increased susceptibility to fractures. Here we describe a 7-year-old boy with osteoporosis due to a novel PLS3 deletion.Presenting problem: The patient, born to non-consanguineous parents, had a history of one low-energy long-bone fracture, three vertebral fractures (T5, T6 T8) and kyphosis. DXA scan...

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...

Introduction: Measures of physical function may be related to osteoporosis and fractures in older individuals and may thus be used in the identification of individuals at high fracture risk.Aim: The aim of this study was to investigate which measures of physical functioning are associated with bone quality and fracture incidence and whether gender-specific differences exist within these associations.Methods: We studied 1486 partici...