Bone Abstracts

Maternal vitamin D status has been positively associated with infant bone mass in observational studies. We therefore evaluated whether 1000 IU/day cholecalciferol during pregnancy would lead to greater offspring bone mass at birth, in a UK, multicentre, randomised, double-blind, placebo-controlled trial (MAVIDOS, ISRCTN82927713).At 12 weeks’ gestation, pregnant women with a serum 25-hydroxyvitamin D [25(OH)D] 25-100 nmol/l were randomised to either...

Objectives: Single nucleotide polymorphisms (SNP) in genes related to vitamin D metabolism have been associated with 25-hydroxyvitamin D (25(OH)D) status, but these relationships have not been examined in pregnancy or following antenatal vitamin D supplementation. We assessed whether SNPs in DHCR7 (7-dehydrocholesterol reductase), CYP2R1 (25-hydroxylase), CYP24A1 (24-hydroxylase) and GC (Vitamin D binding protein) were associated with the re...

Background: Treatment with multipotent mesenchymal stromal cells (MSC) has the potential to ameliorate mesodermal disorders.Objective: To treat severe osteogenesis imperfecta (OI) with fetal MSC.Methods: Ten years ago, we treated a fetus with OI type III (COL1A2: c.3008G>A, p.Gly1003Asp) in utero with fetal HLA-mismatched MSC. The procedure was uncomplicated. At the age of 4 months i.v. pamidronete treatment was starte...

Radiation therapy is one of the most effective and indispensable treatment modalities for cancer patients. Known tissue complications caused by radiation-induced stem cell depletion, may result in structural and functional alterations of the surrounding matrix. Although, studies have demonstrated that ionizing radiation can induce apoptosis and senescence, little is known about the effects of therapeutic irradiation concerning the commitment of mesenchymal stem cells to the os...

Aim: Osteoporosis and resulting spontaneous fractures in young patients with neurological impairments living outside institutions have not received much attention. The aim of this study was to determine the degree of demineralization in children and teens with such disabilities living in South Lebanon, an under privileged region.Subjects and methods: We reviewed 40 patients attending outpatient clinics in a referral rehabilitation center in South Lebanon...

Background: Cannabinoid receptors are expressed in synovial joints but their role in joint disease is unknown. Here we examined the role of the type 2 cannabinoid receptor (CB2) in the pathogenesis of age-related osteoarthritis and osteoarthritis caused by destabilisation of the medial meniscus (DMM) in WT and CB2-deficient mice (Cnr2−/− mice).Methods: The severity of arthritis was graded histologically according to standard techni...

Fibroblast growth factor-23 (FGF23) is a bone derived phosphate-regulating hormone which is elevated in hypophosphataemic rickets. Recent findings demonstrate iron deficiency as a potential mediator of FGF23 expression and murine studies have shown in utero effects of maternal iron deficiency leading to increased FGF23 concentration and disordered bone development (Clinkenbeard. JBMR 2013). Children with rickets in rural Gambia, West Africa, have high prevalences of i...

Objectives: Fractures are common in older children. There are only few population-based studies on fractures in infants. Child abuse is a possible trauma mechanism, especially in younger children. New national guidelines for increasing awareness of child abuse and screening for suspected non-accidental traumas in Finland were given in 2003. Our goal was to establish fracture incidence and epidemiologic fracture patterns in children under the age of 1 year.<p class="abstext...

Objective: To evaluate safety and efficacy after 5 years of treatment with asfotase alfa in adolescents and adults with hypophosphatasia (HPP) in a Phase 2, open-label, randomized, dose-ranging study (NCT01163149).Methods: Treatment with subcutaneous asfotase alfa 0.3 or 0.5 mg/kg per d was compared with no treatment (control) for 6 months in patients aged 13–66 years. After 6 months, all patients (treatment and control groups) received active treat...

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...