Bone Abstracts

Objectives: Early-onset osteoporosis is characterized by low bone mineral density (BMD) and reduced bone strength since childhood or young adulthood. Although several monogenic forms have already been identified, the spectrum of mutations and genes behind this condition remain inadequately characterized. Furthermore, it is not clear whether genetic factors determine susceptibility to bone fractures in children with normal BMD. In order to further explore the genetic background...

Introduction: Reduced bone mineral density [BMD] and increased fracture risk are common complications in all conditions characterized by severely reduced physical activity and/or requiring long-term glucocorticoid [GC] treatment, including Duchenne Muscular Dystrophy [DMD].Objectives: The RisBo-DMD study (EudraCT 2011-005745-12) is a 24-month prospective multicenter study, aimed at identifying DMD patients at higher risk of fractures and improving the bo...

Objective: Rett syndrome (RTT) is an X-linked neurodevelopment disorder. More than 95% of RTT female have mutations in methyl-CpG-binding protein 2 (MECP2), whose protein product modulates gene transcription. Specific MECP2 mutations may lead phenotypic variability and different degrees of disease severity. It is known that low bone mass is a frequent complication of subjects with Rett syndrome. This study aimed to investigate if specific MECP2 mutations may affects the degree...

Background: Osteoporosis is common in subjects with Duchenne muscular dystrophy (DMD). Studies in paediatric DMD identified a high frequency of fragility fractures but there are no studies in the adult population. Recent updated international standards of care (2018) for children and adults with DMD recommend the following for bone monitoring:- Lateral thoracolumbar spine x-rays to screen for vertebral fracture (1–2 yearly if on glucocorticoid; 2&#1...

Tartrate resistant acid phosphatase (TRAP) consists of two isoforms TRAP 5a and TRAP 5b suggested to exert different functions and clinical relevance. TRAP 5a is a 35 kDa monomer and a potential marker of inflammatory conditions e.g. atherosclerosis and rheumatoid arthritis. TRAP 5b, a heterodimer of 16 and 23 kDa generated by proteolytic cleavage of a repressive loop in TRAP 5a, is used as marker for osteoclast numbers/bone resorption and osteoclast-related pathological condi...

Background: Metaphyseal chondrodysplasias with cone-shaped epiphyses and cup-shaped metaphyses are very rare. We present a case with this particular skeletal phenotype, along with its differentials.Presenting Problem: Our female patient, aged 3.8 years, was the 2nd child of healthy, unrelated Greek parents, who were worried about her bilateral knee stiffness, which resulted in a limp and also in walking with her knees bent. At presentation, she was noted...

There is increasing evidence for the key role of osteocytes in the regulation of bone remodeling. One of the main products of these cells, sclerostin, inhibits bone formation and may also stimulate bone resorption. To our knowledge, there are few data in prostate cancer (PC) patients especially in patients with hypogonadism related to androgen deprivation therapy (ADT). The aim of this study was to compare serum levels of sclerostin in ADT-treated and untreated PC patients wit...

Context: Variations in sex hormones influence bone health in men. Aging in men is associated with a decrease in testosterone (T) levels.Aims: To examine the relationship between T levels and changes in bone health status as measured by quantitative ultrasound (QUS) at the phalanges and the os calcis and by peripheral bone mineral density (pBMD) at the phalanges in healthy elderly Spanish men.Methods and material: We examined 162 me...

Objectives: We aimed to evaluate hospitalization rate of femoral neck fractures in the elderly Italian population over ten years.Methods: We analyzed national hospitalizations records collected at central level by Ministry of Health from 2000 to 2009. Age- and sex-specific rates of fractures occurred at femoral neck in people ≥65 years old. We performed a sub-analysis over a 3-year period (2007–2009), presenting data per five-year age groups, ...

Background: Surgical treatment of type 2 diabetes, specially in obese patients, has provided good results in the control of blood glucose and Hb1Ac although its effect on bone health is not clear. The aim of this study was to evaluate gene expression of bone remodelling markers in type 2 diabetic Goto-Kakizaki (GK) non-obese rats after gastrojejunal bypass and sleeve gastroplasty, and their relationship with hormonal parameters.Materials and methods: We ...