Bone Abstracts

Despite mutations in SQSTM1 gene have been detected in up to 50% of patients with familial Paget’s disease of bone (PDB), their prevalence is low in sporadic PDB, likely due to the presence of additional predisposition genes. Recently, at least seven genes were associated with PDB in genome-wide-association studies, including polymorphic variation in OPTN,encoding for optineurin. In particular, a single OPTN variant (rs1561570) was highly associated with...

Objectives: Congenital adrenal hyperplasia (CAH) is a rare condition characterized by the inability of the adrenal gland to produce cortisol. The classical form is due to the deficit of 21-hydroxylase activity (21-OHD) and it accounts for 90–95% of all CAH cases. Treatment of CAH patients consists of life-long glucocorticoid therapy, which must be dosed carefully to avoid excessive or insufficient adrenal suppression. There are data showing low bone mineral density (BMD) ...

Biographical DetailsMaja Di Rocco, MD, is Head of the Unit of Rare Diseases, Department of Pediatrics, at the IRCCS Gaslini, Genoa, Italy, and a professor of metabolic diseases at the Postgraduate Schools of Pediatrics, Medical Genetics, and Pediatric Neurology and Psychiatry at the University of Genoa. She graduated in medicine and surgery from the University of Genoa in 1979, before com...

Gaucher disease (GD) is a lysosomal storage disorder due to deficiency of glucocerebrosidase, leading to glucocerebroside storage mainly in macrophages, but also in other cells (lymphocytes, osteoblasts, and neurons).Clinically important bone manifestations of GD include severe acute ‘bone crisis’ (acute avascular osteonecrosis), medullary infarction, osteopenia or osteoporosis, osteolytic lesions, pathologic fractures, defective bone remodelli...

Objective: A retrospective review of bone morbidity in a contemporary cohort of boys with Duchenne muscular dystrophy (DMD) currently managed in a Scottish tertiary neuromuscular centre.Method: Clinical details and results of bone surveillance were obtained in 47 boys, aged 9 years (2–16). DXA bone mineral content (BMC) at total body (TB) and lumbar spine (LS) were adjusted for bone area. Fractures were classified based on radiological confirmation....

Background and aim: Multifaceted risk factors impair bone mass in childhood cancer survivors. Aims of the study were to evaluate bone mass and it’s determinant and fracture prevalence in CBCS 2 (G+2) or 5 (G+5) years after off therapy (OT).Methods: Seventy-three (G+2) and 87 (G+5) CBCS were evaluated at 12.9±4.2 and 14.9±4.4 yrs, respectively. Diagnoses were: astrocytic (G+2:n=25, G+5:n=24), embryonal (G+2:n=28, ...

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...

Since their initial discovery, microRNAs (miRNAs) have emerged as critical post-transcriptional regulators of gene expression that are able to modulate bone remodeling. Nonetheless, despite the peculiar and aggressive phenotype of pagetic osteoclasts and the associated increase in osteoblast activity, whether deregulation of miRNAs is involved in Paget’s disease of bone (PDB) remains unknown. Here, we performed a serum miRNA expression profile (Taqman Human MicroRNA Array...

Recent studies have demonstrated that activin signalling plays a crucial role in the skeleton. Activins control both osteoblast and osteoclast function and are present in the bone extracellular matrix. This makes activin signalling an important new therapeutic target for a dual anabolic antiresorptive intervention in osteoporosis.Activins belong to the large TGF-β superfamily that also includes BMPs, TGFβs and GDFs. Like other TGF-β member...

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