Bone Abstracts

Autoimmune hepatitis (AIH) is an immune-mediated chronic inflammatory disease of the liver of unknown origin, that suddenly appears in previously healthy, normally growing children. Standard therapy is long-term prednisone, aimed at avoiding progression to cirrhosis. Considering the inflammatory origin of the disease and the long-term steroid therapy, negative consequences for bone health can be expected, but no data on this complication have been published until now.<p cl...

We performed a prospective study on 440 young patients (aged 3–20 years), affected by various chronic diseases (cystic fibrosis; juvenile idiopathic arthritis; nephrotic syndrome; systemic lupus erythematosus; Duchenne muscular dystrophy; autoimmune hepatitis; transplants; etc.), with periodical bone mineral density (BMD) evaluations with DXA, for 3–14 years (7.8±6.2).266 patients were on long-term treatment with glucocorticoids (GCs); amo...

Background: The significant increase in the life expectancy of the patients with cystic fibrosis (CF) came with some costs, as new complications have emerged. Among endocrine disorders, CF-related bone disease (CFBD) is a leading complications reported in the adult patients.Objectives: Our study present the first results of the bone mass and body composition evaluation by DXA in a small group of Romanian children with CF treated in the author’s depa...

Objectives: Osteogenesis Imperfecta (OI) type XIV is a recessive OI form characterized by bone fragility, multiple fractures and growth retardation. It is caused by mutation in TMEM38B gene encoding the endoplasmic reticulum (ER) channel TRIC-B. This channel allows the transport of K+ across the ER membrane modulating Ca2+ flux. Defective ER Ca2+ impaires collagen type I synthesis, likely affecting the activity of ER enzymes involved in its post translational modification. To ...

Achondroplasia is the commonest form of dwarfism. Key features in infancy impacting positioning are rhizomelia, spinal deformities and large head size. Both standard high chairs and specialized adaptive seating are currently inadequate to meet the needs of these infants. This is due to their anatomical limitations and the guidance for supportive positioning in this group of children, which recommend that a flat, elongated spine is optimal, avoiding a ‘C shape’, as is...

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 ...

Objectives: To estimate the status of 25-hydroxyvitamin D in healthy Mexican children and to describe factors related to vitamin D deficiency.Methods: A cross-sectional study was conducted in children 2–14 years old in Mexico City and Toluca Edo de Mexico. Trained interviewers applied a questionnaire including all relevant demographics, medical history, sun exposure, sunblock use and skin phototype. Morning fasting blood was collected in all subject...

Introduction: Hypophosphatasia is a rare genetic disease caused by a mutation in the tissue-nonspecific alkaline phosphatase gene. TNSALP gene is located on the short arm of chromosome 1 (1p36.1-34). Over 200 point mutations have been described for this gene so far. Hypophosphatasia is inherited in an autosomal recessive or dominant way, which is related to the severity of symptoms. Pathophysiology of this disease is associated with the impaired function of osteoblasts that do...

Introduction: The bone mineral density loss may be related to cancer. A specific correlation in the neuroendocrine tumors (NET) is not fully described yet.Aim: The analyze DXA in patients with or without NET.Material and method: We perfomed central DXA (spine and hip) with a GE Lunar device in post-menopausal women. None of them were previously treated with anti-osteoporotics drugs. The study groups included women with carcinoid tu...

Different results might be registered in DXA assessment in patients with neuroendocrine tumors (NET) since various factors induce bone disturbances as bone metastases, vitamin D hypovitaminosis, etc.Aim: The analyze DXA in NET.Material and method: The patients (p) were evaluated between 2008 and 2013. The diagnosis of NET was histological confirmed. We also included medullar thyroid cancer (MTC) with distance metastases and carcino...