Bone Abstracts

Background: Stuve–Wiedemann syndrome (SWS, OMIM 601559) is a severe autosomal recessive condition characterized by bowing of the lower limbs with cortical thickening, wide metaphyses, abnormal trabecular pattern and camptodactyly. Additional features include dysautonomia symptoms with temperature instability, respiratory distress and sucking/swallowing difficulties in the first months of life.Most SWS cases do not survive beyond the first y...

Objectives: Beta thalassemia major (BTM) is characterized by anemia and iron overload, especially in children with inadequate chelation therapy. Dual energy x-ray absorptiometry software (DXA) may misanalyse bone measurements due to iron overload/deposition in organs such as the liver. Our objective was to study difference between the anterio-posterior spine measurements of bone mineral content (BMC), area (BA) and density (BMD) in non-chelated beta thalassaemia children with ...

Collagen barrier membranes are used in guided tissue regeneration to support bone healing and periodontal regeneration. Pharmacological inhibitors of prolyl-hydroxylases (PHD) can support hard and soft tissue regeneration and are therefore a promising tool for periodontal therapy. Here we evaluate the release kinetic of the PHD inhibitors dimethyloxaloylglycine and L-mimosine from the collagen barrier membranes.The PHD inhibitors were lyophilized onto co...

PHP1B -iPPSD3 per the new proposed classification- is a rare disorder characterized in most patients by proximal tubular resistance to PTH resulting in hypocalcemia, hyperphosphatemia and elevated PTH. Loss-of-methylation (LOM) at the Differentially Methylated Region (DMR) at GNAS exon A/B occurs in all PHP1B patients, but methylation changes at other DMRs within GNAS occur in some familial and most sporadic PHP1B cases. All patients with autosomal dominant PHP1B (AD-...

It is well known that osteoporotic fragility fractures are an important risk factor for subsequent new vertebral and non-vertebral fractures. Many countries published recommendations to prevent fractures. Also in Italy the Minister of the Health highlighted the importance to prevent osteoporosis and the subsequent fractures, without practical instructions on the management of patients with fragility fractures in the daily clinical practice. Up to date there is no standardized ...

It is well known that thyroid hormone (TH) is essential for normal bone growth and development. However, the mechanisms by which TH regulates these processes are poorly understood. Recently, the sympathetic nervous system (SNS) was identified as a potent regulator of bone metabolism. In vivo studies by our group have shown that TH interacts with the SNS to regulate bone mass and structure, and that this interaction involves α2 adrenoceptor (α2-A...

Success in periodontal regeneration through guided tissue regeneration relies on the healing capacity of the host tissue. Platelet preparations are mitogenic and stimulate regeneration through high growth factor levels. Here we assessed collagen barrier membranes (CBM) as carriers for the secretome of activated platelets. We evaluated cell-attachment, the release of the secretome, and cell proliferation.Secretome of washed platelets (washed PSEC) and unw...

Autosomal Recessive Osteopetrosis (ARO) presents early in life with extreme sclerosis of the skeleton, reduction of bone marrow spaces, hepatosplenomegaly, cranial nerves compression and severe growth failure. ARO is often lethal and at present the only therapy is HSCT, which should be performed as soon as possible in order to obtain a major benefit. ARO is genetically heterogeneous and delays in clinical diagnosis sometimes occur, due to its rareness and to the presence of co...

Introduction: Paget’s bone disease (PBD) is the second most prevalent metabolic bone disease. Most patients present with pain or fracture but many remain asymptomatic. Evidence suggests a significant reduction both in its prevalence and clinical severity. Recent papers described differences in clinical course and therapeutic options in the last 10–15 years.Objective: To characterize PBD differences between patients having been diagnosed before ...

Background: Skeletal maturation is the most reliable indicator of biological age in children and adolescents. The evaluation of hand and wrist X-Ray according to Tanner-Whitehouse (TW3) or Greulich-Pyle (GP) are the most commonly used methods for biological age assessment. Automated bone age assessment has recently become increasingly popular, however a large independent study comparing automated and manual evaluation of bone age is still missing. The aim of this study was to ...