Bone Abstracts

Background: Marfan syndrome (MFS) is a rare connective tissue disorder caused by mutation in the gene encoding the extracellular matrix protein fibrillin-1 (FBN1), leading to transforming growth factor-beta (TGF-β) signaling dysregulation. Although decreased axial and peripheral bone mineral density (BMD) has been reported in adults with MFS, data about the evolution of bone mass during childhood and adolescence are limited.Objectives: The aim of th...

While the connection between under-nutrition and growth retardation is well documented, the opposite connection between over-nutrition and bone development was barely studied. For instance, obese children grow faster in height than normal-weighed children, and prospective studies demonstrated an over-presentation of obese children amongst fracture cases. Furthermore, little is known about the direct effect and the underlying cellular and molecular mechanisms of the diet or sin...

During aging bone resorption often increases while bone formation decreases, thereby reducing bone mass and bone mineral density (BMD) and leading to osteoporosis. Evidence suggests that extrinsic factors may influence bone remodeling. While poorly understood, these mechanisms may function by inducing epigenomic programs that diminish the bone forming capacity of osteoblasts. This study is part of a bi-national consortium aimed at uncovering epigenomic networks controlling the...

Objectives: A heterozygous missense mutation p. C218G in WNT1 was recently identified as the cause of severe primary osteoporosis (Laine et al., New engl J Med 2013). The mutation has thus far been identified in two large Finnish families presenting with dominantly inherited, early-onset osteoporosis, with affected adult patients showing reduced bone mineral density (BMD), vertebral compression fractures, kyphosis and height loss. This study examined characte...

Early-onset primary osteoporosis is characterized by low bone mineral density (BMD) and increased tendency to fractures in young people. Studies on rare bone diseases, such as osteogenesis imperfecta (OI), have identified several new genes associated with early-onset skeletal fragility. This study aimed to explore the role of variation in the cartilage-associated protein (CRTAP) gene in early-onset osteoporosis and/or recurrent fractures. We first used homozygosity ma...

Background and aims: Dual energy X-ray absorptiometry (DXA) as currently utilised has limitations in identifying patients with osteoporosis and predicting fractures, since most low-trauma fracture (LTF) patients have osteopenia not osteoporosis based on DXA assessment. We aimed to express peripheral quantitative computed tomography (pQCT) variables of patients with low-trauma fracture as T-scores by using T-score scales obtained from healthy young women, and ...

Biographical DetailsEric HesseEric Hesse studied Medicine at Hannover Medical School in Germany where he became MD in 2003. He was trained in Orthopedic Surgery and graduated as PhD in 2007 in Genetics & Cell Biology in Hannover, Germany. In 2005, he moved as a Postdoctoral Fellow funded by the German Research Foundation to the laboratory of Dr ...

Objectives: X-linked hypophosphatemia (XLH) is a rare genetic disorder of phosphate metabolism caused by mutations in the PHEX gene. This pilot study aims to apply novel imaging techniques to asses the musculoskeletal phenotype of XLH patients by bidirectional axial transmission (BDAT) ultrasound, magnetic resonance spectroscopy (MRS) and high resolution peripheral quantitative computed tomography (HR-pQCT).Methods: BDAT bone ultrasound of the radius and...

Background: Juvenile Paget’s disease (JPD) is a rare autosomal-recessive condition. The disease is typically diagnosed in infants or young children and characterized by a generalized increased in bone turnover, bone pain, skeletal deformity and increased risk of pathological fractures. In our knowledge, inactivating mutations in the TNFRSF11B gene, which encodes osteoprotegerin, cause JPD, yet. There are no randomized controlled trials which to offer the optimal form of t...

Introduction: Fibrous dysplasia (FD) of bone is a benign, non-inheritable disease characterized by bone pain, bone deformities and fractures. Its prevalence is ~1 in 30 000 individuals and diagnosis is based on the clinical and radiologic findings and is confirmed by biopsy. Yet, in some cases biopsy is not applicable.Case report: A young woman presented to our outpatient clinic with a history of pain localized at the distal half of the left tibia that h...