Bone Abstracts

Introduction: Recently reported high incidences of hip fractures emphasize the need of more effective methods for osteoporosis diagnosis, currently performed essentially by dual-energy X-ray absorptiometry (DXA) examinations of the proximal femur. However, high costs and radiation-related issues do not allow DXA employment for population mass screenings. Aim of this study is to carry out a preliminary clinical validation of a new ultrasound (US)-based method to perform femoral...

Biographical DetailsDr Antonella ForlinoDr Antonella Forlino obtained her Degree in Biological Science in 1991 at the University of Pavia, Italy; her PhD in Biochemistry in 1994 at the University of Pavia and her Speciality Degree in Genetic in 1997. From 1995 to 1999 Dr Forlino had a fellowship at NIH, Bethesda, MD, USA. She is now Associate Profes...

Objectives: The Brtl mouse, a unique model for the autosomal dominant forms of osteogenesis imperfecta was used to prove the feasibility of a lentiviral-shRNA-based strategy to improve collagen quality by targeting the mutant Col1a1 allele at the point mutation responsible for the causative substitution Gly349Cys. The ability to specifically suppress the mutant allele should convert the moderate Brtl outcome to the mild one caused by quantitative defect.<p class="...

Background: Proline and hydroxyproline account for ~25% of aminoacids in collagen., Prolidase (peptidase D (EC 3.4.14.9)), cleaves iminodipeptides with a C-terminal proline or hydroxyproline, playing a major role in collagen catabolism. Mice with prolidase deficiency (PD) present with varied phenotypes including reduced size compared to wild-type littermates. We measured structural and mechanical properties of bones in PD mice.Methods: Whole femurs from ...

Chronic recurrent multifocal osteomyelitis (CRMO) is a rare, auto-inflammatory disorder of unknown cause that affects children and adolescents. CRMO is characterized by periodic bone pain, fever, multiple bone lesions occurring at any skeletal site, even if the metaphyseal area of long bones, clavicle and shoulder girdle are the most common locations. Dermatological manifestations include psoriasis, acne and pustules. The clinical and radiological features of the disease are v...

Dominant osteogenesis imperfecta (OI) is a bone disease mainly caused by collagen type I mutations and characterized by bone fragility and growth delay. Nowadays no definitive cure is available. A zebrafish OI model (Chihuahua) carrying an heterozygous G574D substitution in the α1 chain of collagen type I was generated by ENU mutagenesis and is available in our laboratory. Control (WT) and mutant (Chi+/−) fish growth was followed up from day 1 post fertilization to ...

Bone tissue homeostasis requires the coordinated activity of osteoblasts, the bone forming cells, of osteoclasts, the bone resorbing cells, and of osteocytes, generally referred as the bone mechano-sensors. In this contest, osteoblasts are the mesenchymal cells secreting the extracellular matrix components on which hydroxyapatite crystals are then deposited. The most abundant protein of this organic matrix is type I collagen, a heterotrimeric secretory protein, synthesized as ...

Background: Osteoporosis is a leading cause of morbidity in patients affected by β-thalassaemia major (TM) and intermediate thalassaemia (TI). Appropriate supportive care and identification of long-term sequels of therapy are important in thalassaemic patients. As low bone mineral quality (BMQ) in patients can be considered a marker of possible degeneration to osteopenia and osteoporosis in adulthood, we evaluated bone features in a young population followed at ‘A. P...

Osteoporosis is a leading cause of morbidity in patients affected by β-thalassaemia major (TM) and intermediate thalassaemia (TI). Appropriate supportive care and identification of long-term sequels of therapy are important in thalassaemic patients. As low bone mineral quality (BMQ) in patients can be considered a marker of possible degeneration to osteopenia and osteoporosis in adulthood, we evaluated bone features in a young population followed at ‘A. Perrino’...

see P401....