Bone Abstracts

Background: Stuve–Wiedemann syndrome (SWS, OMIM 601559) is a severe autosomal recessive condition characterized by bowing of the lower limbs with cortical thickening, wide metaphyses, abnormal trabecular pattern and camptodactyly. Additional features include dysautonomia symptoms with temperature instability, respiratory distress and sucking/swallowing difficulties in the first months of life.Most SWS cases do not survive beyond the first y...

Introduction: Atypical markers will provide interesting information in order to assess the bone metabolism. Serotonin has a dual action related to the bone and its serum level is the easiest to use in daily clinical practice also the exact value is not very well described up to this moment.Aim: We correlate to serum levels of serotonin with different results of clinical bone health evaluation in menopausal women.Materials and metho...

Giant cell tumour of bone (GCTb) is an osteolytic neoplasia with tendency to local recurrence (10–25%), while metastases or malignant transformation are described in 1–4% of cases.It is composed by three distinct populations that cross-talk each other generating unbalance in bone remodeling and activation of NF-kB signaling pathway.To identify new candidate biological markers useful for improving clinical management of GC...

In the recent years the role of the skeleton in glucose and energy homeostasis has been studied. In particular the osteoblast-specific protein osteocalcin (OC), in its undercarboxylated form (uOC) has been shown to influence glucose homeostasis in animal models.The aim of our study is to evaluate if the intermittent administration of 1–84 PTH could influence glucose metabolism through its anabolic action on the skeleton.We enr...

Objective: Classical homocystinuria due to cystathionine beta-synthase (CBS) deficiency, is a rare autosomal recessively inherited disease characterized by the multiple involvement on different organs. While the most striking cause of morbidity and mortality is thromboembolism, patients develop a marked osteoporosis at early age along with many other skeletal abnormalities. As CBS normally converts homocysteine to cystathionine, the result of CBS deficiency is an accumulation ...

Fibrous dysplasia of bone (FD) is a crippling skeletal disease caused by activating mutations (R201C, R201H) of the Gsα gene. We recently generated GsαR201C transgenic mice that develop a FD skeletal phenotype. The analyses of these mice demonstrated that increased bone resorption is one of the main morbidity factors in FD and that RANKL is the major molecular mediator of osteolysis at affected skeletal sites.Ob...

Objective: To characterize a group of children with Osteogenesis Imperfecta (OI) followed up at the University Hospital of Brasília (HUB), Brazil.Methods: Data were collected with children and adolescents that were hospitalized in the HUB for intravenous pamidronate infusion treatment. This hospital is an OI reference center of the Midwest region in Brazil. The sample consisted of thirty-eight subjects, of which 50% were female. 52% of the children ...

Objectives: This study aimed to correlate handgrip strength and functionality of children with Osteogenesis Imperfecta (OI).Methods: Thirty-eight children and adolescents with different types of OI were single-timed evaluated during their hospitalization for pamidronate intravenous infusion at the University Hospital of Brasília, Brazil. This hospital is the Brazilian Midwest reference for OI treatment through the national health system. These child...

Ancient Egyptians were well known for the art of embalming, performed in the belief that preservation of the body was essential for survival in the afterlife. During the mummification process, internal organs were removed and some of them (lungs, stomach, liver, and intestines) washed, dehydrated with natron, perfumed, and stored in so-called canopic jars, buried with the mummy. Each jar had established contents and its own protective deity. To date, a limited number of studie...

Autosomal Recessive Osteopetrosis (ARO) presents early in life with extreme sclerosis of the skeleton, reduction of bone marrow spaces, hepatosplenomegaly, cranial nerves compression and severe growth failure. ARO is often lethal and at present the only therapy is HSCT, which should be performed as soon as possible in order to obtain a major benefit. ARO is genetically heterogeneous and delays in clinical diagnosis sometimes occur, due to its rareness and to the presence of co...