Bone Abstracts

Biographical DetailsJosé Luis MillánProfessor José Luis Millán received his early training in clinical chemistry and biochemistry at the University of Buenos Aires, Argentina, and his PhD in Physiological Chemistry at the University of Umeå, Sweden, in 1983. Professor Millán is currently based at the Children’s Hea...

Background: Morquio disease was described by the Uruguayan pediatrician Luis Morquio. It’s a congenital disease caused by a deficiency of the N-acetilgalactosamine 6 sulfatase (MPS IV A) or B galactosidase (MPS IV B) and his frequency is 1/100 000 live births Accumulation of mucopolysacharides in tissues results in short stature, skeletal anomalies (vertebral column deformities), loss of hearing, visual anomalies (corneal opacities), cardiac, hepatic and respirat...

Background: Achondroplasia is a genetic disorder wich affects bone growth leading to short stature. It occurs in 1 of every 25 000 live births and it is characteristized by short extremities, hyperlordosis, small hands and macrocephaly, with high forehead and saddle nose. Neurologic complications are due to narrowing of the vertebral foramen. Is transmitted as autosomal dominant and it is due to mutations of the FGFR3 gene witch codifies the fibroblastic receptor of G...

Background: Pseudohypoparathyroidism is characterized by a resistance to parathormone, with variable phenotypical and biochemical manifestations. With genetic disorder caused by heterozygous inactivating mutations in GNAS1, the gene encoding the alpha-chain of G(s), and is associated with short stature, obesity, brachydactyly, and sc ossifications. AHO patients with GNAS1 mutations on maternally inherited alleles also manifest resistance to multiple hormones (e.g. PTH, TSH, LH...

Introduction: Albright-McCune Sternberg syndrome (SAMS) is a rare disorder which originates in a germinal mutation of gene GNAS1, which codifies the alpha subunit of protein G (Gsa). It is characterized by a typical phenotype which includes polyostotic fibrodysplasia, precocious puberty independent from gonadotropins, cafe-au-lait spots and a series of endocrine abnormalities. The most common mutations include a cysteine or histidine for arginine substitution in codon 201 of e...

Introduction: Denosumab monoclonal antibody approved for Osteoporosis’s treatment in Europe union and U.S.A. Dose of 60 mg every 6 months reduces the risk of vertebral, non vertebral and hip fractures. What is more increases BMDMaterial and methods: Descriptive observational study with densitometric characterisques and risk factors of 64 patients in Osteoporosis unit of HGUG Marañón from November 2011 to December 2013. Analyzing occurrence...

The Rickets is a disease which disturbs normal bone formation through different methods, like vitamin D deficiency, malabsorption, chronic renal disease, metaphisary dysplasia, low phosphorus and resistant rickets.The peak age at which rickets is most prevalent is usually 3–18 months, and the characteristic clinical features of this metabolic bone disease include enlargement of the epiphyses of the long bones and rib cage, bowing of the legs, bendin...

Adolescents with cerebral palsy (CP) have altered muscle tone and reduced bone mass, which can lead to impaired mobility and function increasing their risk for osteopenia in later life. OBJECTIVES: We evaluated the efficacy of two side-alternating vibration therapy (VT) protocols (9 minutes/day versus 15 minutes/day) over a 20-week program on mobility and bone health in adolescents with mild CP. METHODS: Sixteen participants (12.4±0.9 years; 10 males) with mild cerebral p...

Objective: To determine serum 25-lydroxivitamin D (25OHD) and intact parathyroid hormone (PTH) levels in an immobilized population from Northern Spain.Subjects and methods: We studied 125 immobilized people (37 men and 88 women) aged 53–101 years. (85±8 years.). Seventy-five percent of the subjects lived at home, residing in nursing homes the remaining 25%. None of them received antiresorptive therapy, corticosteroids or vitamin D supplements. ...

Experimental studies suggested that both, oxidative stress and the Wnt pathway, are important factors in the regulation of bone remodeling. Thus, low antioxidant levels and elevated markers of Wnt pathway inhibitors (sclerostin) levels are associated with a reduced bone mineral density and increased risk of osteoporotic fracture. Whether oxidative stress and the Wnt pathway are related to fracture risk is poorly understood.M&M: Cross-sectional study ...