Bone Abstracts

Objectives: Osteogenesis imperfecta (OI) is a bone disease mainly caused by collagen type I mutations and characterized by bone fragility. No definitive cure is available and the search for novel treatments is necessary. The small teleost D. rerio is particularly appealing for drug screening approaches. A zebrafish OI model (Chihuahua) carrying in heterozygosis the G574D substitution in the α1 chain of collagen type I is available. To use this model for ...

Objectives: Osteogenesis Imperfecta (OI) is a heritable brittle bone disease mainly caused by mutation of COL1A1 or COL1A2. Treatment with bisphosphonate is not effective enough in patients with severe OI. 4-phenylbutyric acid (4-PBA) may become a new medicine, which was reported to ameliorate the phenotype of an OI zebrafish model. In the present study, we aimed to analyze the pathology of OI and the effects of 4-PBA on patient-derived fibroblasts and induced pluripotent stem...

Objectives: Osteogenesis imperfecta (OI) is a heritable disorder characterized by bone deformity and skeletal fragility. Cartilage associated protein (CRTAP), proline 3-Hydroxylase 1 (P3H1) and Cyclophylin B (PPIB) are components of the endoplasmic reticulum (ER)-resident complex involved in the 3-hydroxylation of specific proline residues in collagen type I α chains. Mutations in these proteins are responsible for recessive OI type VII, VIII and IX, respectively. Murine ...

Background: Observations in rodents suggest that osteocalcin (OC) participates in glucose metabolism. Data from human studies are inconclusive and it remains unclear whether OC is simply a marker of bone turnover (BTM) or if it also mediates interactions between the skeleton and glucose homeostasis. This study determined the responses of BTMs, including OC, to oral glucose tolerance test (OGTT) in obese and normal-weight subjects.Materials and methods: P...

Background: Puberty is highly important for the accumulation of bone mass. Bone turnover and bone mineral density can be affected in transgender adolescents when puberty is postponed by gonadotropin-releasing hormone analogues (GnRHa), followed by treatment with cross-sex hormone therapy (CSHT).Objective: To investigate the effect of GnRHa and CSHT on bone turnover markers (BTMs) and bone mineral apparent density (BMAD) in transgender adolescents.<p ...

Background: Hypocalcemia presenting in adolescence is rare. Most common etiology is autoimmune hypoparathyroidism. Pseudohypoparathyroidism (PHP) is a rare group of disorders characterized by end-organ resistance to parathyroid hormone (PTH), and other hormones, such as TSH, with or without features of Albright’s hereditary osteodystrophy.Case presentation: A 14-year-old boy presented complaining of fatigue and spontaneous carpal spasms in associati...

Background and aims: Vitamin D supplementation has the potential to alleviate the cardiovascular damage in diabetic patients. The present study was designed to evaluate long term impact of high doses of vitamin D on arterial properties, glucose homeostasis, adiponectin and leptin in patients with type 2 diabetes mellitus.Methods and results: In randomized, placebo-controlled study 47 diabetic patients were assigned into two groups: Group 1 received oral ...

Background: Osteoarthritis (OA), the prevalent joint-affecting disease characterized by cartilage damage, is the leading cause of disability in adults and contributes to the excess of morbidity and healthcare costs. We performed the current trial to evaluate biomarkers, specifically adiponectin in serum and synovial fluid, associated with cartilage damage severity assessed by arthroscopy, in patients with symptomatic knee osteoarthritis.Methods: The 40 s...

Background: Identification of risk factors may help us to understand the pathogenesis of osteoporotic hip fracture as well as to formulate development of better diagnostic, prevention and treatment strategies. The present study was designed to determine the impact of multiple metabolic risk factors such as markers of systemic inflammation (C-reactive protein), body iron stores (ferritin), insulin resistance (HOMA-IR) and bone remodeling (osteoprotegerin), for the prediction of...

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="...