Bone Abstracts

Biographical DetailsDr Gen Nishimura is Radiologist-in-Chief, Department of Pediatric Imaging, Tokyo Meteropolitan Children’s Medical Center, Tokyo, Japan. After obtaining the medical degree at Keio University School of Medicine in Tokyo, Dr G Nishimura started his career of diagnostic radiology in the late 1970s. During the exposure to pediatric radiology in early 1980s, he develope...

: Rickets can occur due to vitamin D deficiency or defects in its metabolism. Mutations in the CYP27B1 gene, which encodes vitamin D 1α-hydroxylase, are the genetic basis of vitamin D-dependent rickets type 1A (VDDR1A, OMIM 264700). Vitamin D dependent rickets type 1 is inherited in an autosomal recessive pattern. We report here a new mutation in CYP27B1, which lead to vitamin D dependent rickets type 1. Two boy siblings from a consanguineous Turkish family presented to e...

Background: Calcinosis cutis, the deposition of insoluble calcium salts in the cutaneous and subcutaneous tissue, is rare during infancy. Calcifications are most frequently reported after subcutaneous fat necrosis, hypothermia in neonates or following extravasation of calcium gluconate.Presenting problem: The patient was born at term by caesarean section because of fetal distress; the birth weight was 2426 g. At age 4 weeks, he was admitted to the hospit...

Introduction: The prospective, single-arm, open-label ZOTECT study was designed to assess the effect of zoledronic acid (ZOL) on bone-marker levels and potential correlations with disease outcomes in bisphosphonate-naive patients with bone metastases.Methods: Patients with bone metastases from prostate cancer (PC; n=301) or breast cancer (BC; n=99) who have not received bisphosphonates for ≥6 months were enrolled at 98 sites in Ge...

Objective: Chondrolysis, chondrocyte apoptosis, and local inflammation are described to exacerbate osteoarthritis development. We therefore aimed to investigate the effect of adrenomedullin (ADM) and its truncated peptide (22–52ADM) on in vitro and in vivo models. Both have exhibited anti-apoptotic and anti-inflammatory properties in collagen-induced arthritis (CIA) in mice.Methods: In normoxia or hypoxia (physiological condition),...

Objective: In children, factors such as age and puberty are confounders when investigating associations of fat or lean with bone mineral content (BMC). Our aim was to assess influence of fat on BMC in overweight/obese (ow/ob) and normal weight (nw) children at different stages of puberty.Methods: Cross-sectionally, 244 children+adolescents (6–16 years) (73nw, 177ow/ob) were assessed (tanner staging (TS), body composition (DXA) (total body BMC, lean ...

Juvenile Paget’s disease (JPD) is an extremely rare, yet painful and debilitating bone disease with onset occurring during early childhood. JPD can be caused by loss of function of osteoprotegerin, resulting in subsequent osteoclast stimulation via the activated receptor activator of nuclear factor-kappa B (RANK) pathway. Increased bone turnover and a lack of bone modelling lead to severe deformities, frequent fractures, short stature and loss of hearing.<p class="abs...

Primary hyperparathyroidism is extremely rare in childhood and adolescence. Here we report a clinical case of a 15-year-3-month-old boy who began 2 years before with pain in his knees, genu varum, and fatigue. Physical examination showed severe genu valgum with an inter-malleolar distance of more than 30 cm. Biochemical tests showed hypercalcemia (12.2 mg/dl), hypophosphatemia (2.3 mg/ dl), hypercalciuria (6.4 mg/kg per day), high alkaline phosphatase (2812 IU/l), low 25-hydro...

Poor bone mineralization remains a major health problem in patients with Thal and has been linked to functional zinc deficiency despite adequate dietary intake. The global etiology of poor bone mineralization includes inadequate dietary intake of calcium and vitamin D, endocrinopathies leading to disturbed calcium homeostasis, dysregulation of the GH–IGF1 axis, and delayed puberty, all resulting in limited growth, decreased bone formation and increased bone resorption. Th...

Objectives: Idiopathic hypercalciuria may infer not only an increased risk of nephrolithiasis but may also be associated with reduced bone mineral density (BMD) in adults. However, little is known about relationships between hypercalciuria, oxaluria, urolithiasis, citraturia and fracture risk in children. The aim of this cross-sectional study was to evaluate associations between hypercalciuria, urinary oxalate and citrate, BMD and fractures in hypercalciuric children.<p cl...