Bone Abstracts

The pediatric osteogenesis imperfecta (OI) team at our university hospital was established in 1991. The multi- and inter-disciplinary team consists of: pediatric neurologist, nurse, nursing assistant, physiotherapist, occupational therapist, orthopedic surgeon, orthotist, radiologist, dentist and geneticist. We also have a close collaboration with other specialists.Our assignment is high qualified diagnostics, functional assessments and also individualiz...

Introduction: Recent data suggest that imbalances in lipid metabolism affect bone cell function resulting in osteoporosis. Here, we investigated the role of apolipoprotein E (ApoE), essential component of chylomicron and very low density Lipoprotein metabolic pathways, in the regulation of osteoblast and osteoclast function and thus in the pathogenesis of osteoporosis.Material and methods: We used apoE deficient (ApoE−/−) and wild ...

Introduction: Recent data suggest that imbalances in lipid metabolism affect the function of both osteoblasts and osteoclasts and thus bone quality. Here we investigated the role of apolipoprotein A-I (ApoA-I), a key-element of HDL biogenesis, in the regulation of cardinal genes/proteins that regulate lipoblasts and osteoblasts in mice.Materials and methods: We used apoA-I deficient (ApoA-I−/−) and wild-type (C57BL/6) mice (10 anim...

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...

Introduction: Dentinogenesis imperfecta (DI) is a common dental aberration in patients with osteogenesis imperfecta (OI). Mutations that cause abnormal collagen chains will cause more serious types of OI and it has been claimed that DI should be a marker for qualitative defected collagen. It has also been supposed that normal development of teeth may be more dependent on normal α2(I) than normal α1(I) chains which are encoded by COLIA2 and COLIA1 ge...

Abstract: Osteogenesis imperfecta, also known as ‘brittle bone disease’, is a heterogeneous disorder of connective tissue generally caused by dominant mutations in the genes COL1A1 and COL1A2, encoding the α1 and α2 chains of type I (pro)collagen. Symptomatic patients are usually prescribed bisphosphonates, but this treatment is neither curative nor sufficient. A promising field is gene silencing through RNA interference. In this study, small interfering RN...

Introduction: We describe a monozygotic twin pair, of which one boy was diagnosed with anorchia. Both were followed-up till age 17.Case report: At birth, in one twin 46 XY boy (A), testes were not palpable while his brother (B) was unaffected. Stimulation with human chorionic gonadotrophin (hCG) and orchidopexia were unsuccessful at age 3. A second hCG-stimulation test was performed at age 8, where serum testosterone response failed to increase. No testi...

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Introduction: Recent data suggest that lipid metabolism imbalances affect osteoblast and osteoclast function resulting in altered bone mass quality and quantity. Here we investigated the role of apolipoprotein A-I (apoA-I), key-element in HDL biogenesis in the pathogenesis of osteoporosis in mice.Materials and methods: Lumbar vertebrae and femora from apoA-I deficient (ApoA-I−/−) and WT (ApoA-I<s...