Bone Abstracts

Context: Variations in sex hormones influence bone health in men. Aging in men is associated with a decrease in testosterone (T) levels.Aims: To examine the relationship between T levels and changes in bone health status as measured by quantitative ultrasound (QUS) at the phalanges and the os calcis and by peripheral bone mineral density (pBMD) at the phalanges in healthy elderly Spanish men.Methods and material: We examined 162 me...

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...

Background: Osteoporosis in otherwise healthy children demands thorough study as it may be the first manifestation of an occult illness. When other diseases can be ruled out, juvenile idiopathic osteoporosis (JIO) is the purported diagnosis.PresentationWe report the case of an 8-year -old boy with no personal or family history of chronic disease who presented with sudden ankle pain unrelated to trauma and not responsive to rest and...

Transient osteoporosis of hip (TOH) is a spontaneous resolving skeletal disorder characterized by sudden onset of severe pain which resolves within 6–12 months. It is seen more commonly in middle aged men, though also seen in third trimester of pregnancy. MRI is the main diagnostic tool. It is idiopathic in nature.We present a case report of a young adult male who presented with migratory transient osteoporosis of both hip joints separated by a peri...

Background: Vitamin D (Vit-D) plays a role in calcium metabolism during pregnancy, and studies have found widespread deficiency in this period. Its significance is still not fully understood, although low Vit-D levels have been associated with increased risk for preeclampsia, bacterial vaginosis, neonatal sepsis and early respiratory infections in the infant. Supplementation to the pregnant mother remains a matter of debate; thus, it is important to better understand the cause...

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...

It has suggested that BGP is inversely related to body fat. BGP appears to regulate energetic metabolism through the insulin receptor signaling pathway in the osteoblast, which affects bone resorption and BGP activity. Fat tissue is an endocrine organ that secretes different hormones and growth factors; several of them affect bone remodeling and insulin secretion. The present report comparatively studied total BGP levels, glucose homeostasis and body fat mass in spontaneous ob...