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...

Background: Trisomy 9p is a rare abnormality caused by duplication of the short arm of chromosome 9. Translocation t(9;11) is a rarer variant. Both anomalies are compatible with long survival. Clinical manifestations are very variable, and include short height, mental retardation, hypertelorism, strabismus, foot/hand anomalies, delayed bone maturation. Low bone mineral density (BMD) or fragility fractures have never been reported.Presenting prob...

Osteogenesis imperfecta is a clinically heterogeneous heritable connective tissue disorder. Most OI cases are due to mutations in type I collagen genes, COL1A1 and COL1A2 encoding the pro-alpha1(I) and pro-alpha2(I) chains respectively. However, genotype-phenotype correlation has not been completely elucidated yet. In this study we evaluated a familial case including a mother and a daughter, classified as OI type I. The daughter had more severe clinical featu...

Osteogenesis imperfecta is a clinically heterogeneous heritable connective tissue disorder. Most OI cases are due to mutations in type I collagen genes, COL1A1 and COL1A2 encoding the pro-alpha1(I) and pro-alpha2(I) chains respectively. However, genotype–phenotype correlation has not been completely elucidated yet. In this study we evaluated a familial case including a mother and a daughter, classified as OI type I. The daughter had more severe clinical ...

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...

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...

In children and adolescents with acute lymphoblastic leukemia (ALL), low bone mineral density (BMD) and increased risk of fractures can be observed at diagnosis and/or during treatment.This prospective study was aimed to evaluate BMD and bone turnover in patients with a new diagnosis of ALL, treated with an international protocol (AIEOP BFM ALL 2009) (*), based on high-dose steroids and chemotherapeutic drugs.Inclusion criteria wer...

Low bone mineral density (BMD) and an increased rate of both peripheral and vertebral fractures have been observed in patients with Duchenne muscular dystrophy (DMD). However, studies specifically addressing bone metabolism, BMD and fractures in this disease are still very few.Our ongoing multicenter, prospective study is aimed to identify the characteristics of the DMD boys with a higher risk of bone loss and fractures, through the evaluation of bone tu...

Low bone mineral density (BMD) and an increased rate of both peripheral and vertebral fractures have been observed in patients with Duchenne muscular dystrophy (DMD), but studies on bone metabolic alterations in this disease are still very few.We are now presenting the preliminary findings of an ongoing multicenter, prospective study aimed to identify the characteristics of DMD boys carrying a higher risk of bone loss and fractures, through the evaluatio...

We analyzed body composition (DXA, Hologic) in 334 young patients (aged 3–24 years) with chronic diseases, most of them on long-term glucocorticoid (GC) treatment, and monitored its changes over 3–14 years (6.9±6.2 years).Bone mineral content (BMC), fat mass (FM) and fat-free mass (FFM) were measured on total body (TB), trunk, upper limbs, lower limbs. BMC, FM, FFM were expressed as percentages and compared with age- and sex-matched health...