Search results for "Bone Diseases"
showing 10 items of 52 documents
Genetic deficiency of tartrate-resistant acid phosphatase associated with skeletal dysplasia, cerebral calcifications and autoimmunity
2010
Vertebral and metaphyseal dysplasia, spasticity with cerebral calcifications, and strong predisposition to autoimmune diseases are the hallmarks of the genetic disorder spondyloenchondrodysplasia. We mapped a locus in five consanguineous families to chromosome 19p13 and identified mutations in ACP5, which encodes tartrate-resistant phosphatase (TRAP), in 14 affected individuals and showed that these mutations abolish enzyme function in the serum and cells of affected individuals. Phosphorylated osteopontin, a protein involved in bone reabsorption and in immune regulation, accumulates in serum, urine and cells cultured from TRAP-deficient individuals. Case-derived dendritic cells exhibit an …
Skeletal status assessed by quantitative ultrasound and dual-energy X-ray absorptiometry in children with inflammatory bowel disease: A 2-year prospe…
2019
PURPOSE To assess the bone status in children with inflammatory bowel diseases (IBD) using quantitative ultrasound (QUS) measurement and dual-energy X-ray absorptiometry (DXA) at baseline and after two years of adequate treatment of the IBD and bone protection medication. METHODS Sixteen children (six boys) with IBD, aged 13.4±2.4 years, were examined at baseline and two years later. DXA was used to asses bone mineral density (BMD) and reference data were provided by the device's manufacturer (Hologic Explorer). QUS measurements were performed in patients and controls - 48 healthy children. RESULTS Mean Z-scores for TB- and s-BMD were significantly below zero for both, baseline and follow-u…
Fibroma osificante maxilar: presentación de un caso y revisión de la literatura
2004
Existe un conjunto de procesos que han sido denominados genéricamente lesiones fibroóseas benignas, entre las que se encuentran la displasia fibrosa, la osteomielitis esclerosante y el fibroma osificante o cementificante. Todos estos procesos tienen un estroma fibroblástico vascular y producen una matriz calcificada que comprende desde el hueso hasta el cemento. El fibroma osificante se caracteriza por presentar un crecimiento y una tumefacción deformante de evolución lenta que generalmente aparece en la mandíbula y puede producir desplazamiento dentario precoz. Desde el punto de vista radiológico aparece generalmente como un área radiotransparente unilocular bien definida y demarcada o com…
Postmenopausal women with osteopenia and a healed wrist fracture have reduced physical function and quality of life compared to a matched, healthy co…
2013
Background Fractures lead to reduced physical function and quality of life (QOL), but little is known about postmenopausal women with osteopenia and a healed wrist fracture. The purpose was to evaluate physical function in terms of quadriceps strength, dynamic balance, physical capacity and QOL in postmenopausal women with osteopenia and a healed wrist fracture compared to a matched, healthy control group with no previous fracture. Methods Eighteen postmenopausal women with osteopenia (patients) (mean age 59.1 years, range 54 – 65) and a healed wrist fracture were matched to 18 healthy control subjects on age (mean age 58.5 years, range 51 – 65), height, weight and body mass index (BMI). We…
The Impact of Diet and Physical Activity on Bone Health in Children and Adolescents.
2021
There is growing recognition of the role of diet and physical activity in modulating bone mineral density, bone mineral content, and remodeling, which in turn can impact bone health later in life. Adequate nutrient composition could influence bone health and help to maximize peak bone mass. Therefore, children’s nutrition may have lifelong consequences. Also, physical activity, adequate in volume or intensity, may have positive consequences on bone mineral content and density and may preserve bone loss in adulthood. Most of the literature that exists for children, about diet and physical activity on bone health, has been translated from studies conducted in adults. Thus, there are still man…
Electroclinical features and outcome of ANKRD11-related KBG syndrome: A novel report and literature review.
2021
KBG syndrome (OMIM #148050) is a rare autosomal dominant disorder, typically characterized by macrodontia of the upper central incisors, distinct craniofacial findings, short stature, and skeletal anomalies associated with neurological involvement including intellectual disability, behaviour difficulties, and epilepsy. KBG syndrome is associated with mutations in ANKRD11 gene that plays a chromatin regulator role of histone acetylation and gene expression during neurogenesis in the embryonic brain.
Osteodystrophy in chronic liver diseases
2013
Osteoporosis and osteomalacia are, to date, among the most common metabolic diseases in the world. Lately, an association between metabolic bone diseases and chronic liver disease has been increasingly reported, inducing many authors to create a new nosographic entity known as 'hepatic osteodystrophy.' The importance of such a condition is further increased by the morbidity of these two diseases, which greatly reduce the quality of life because of frequent fractures, especially vertebral and femoral neck ones. For this reason, early identification of high-risk patients should be routinely performed by measuring bone mass density. The explanation for the association between bone diseases and…
Jaw osteonecrosis management around a dental implant inserted 2 years before starting treatment with zoledronic acid
2015
Journal Article; Bisphosphonates (BP) are a type of drug known to inhibit bone resorption through complex interventions. Their primary mechanism of action is aimed at the cellular level, inhibiting osteoclast activity and so bone resorption. BPs are widely used, with many patients receiving continuous treatment for years. But it is well known that these drugs can produce osteonecrosis of the jaw (ONJ). Zoledronic acid (ZA) is an intravenous BP used in the treatment and prophylaxis of bone disease in patients with malignant tumors with bone implication. ZA is the most potent BP in clinical development. This report describes the case of a 62-year-old woman with breast cancer antecedents which…
Immunomodulating role of bisphosphonates on human gamma delta T cells: an intriguing and promising aspect of their antitumour activity.
2007
Vgamma9Vdelta2 T cells have the ability to produce inflammatory cytokines involved in protective immunity against intracellular pathogens and tumours and to display strong cytolytic as well as bactericidal activities. This suggests a direct involvement of Vgamma9Vdelta2 T lymphocytes in immune control of cancer and infections. These observations have recently aided development of novel immunotherapeutic approaches aimed at Vgamma9Vdelta2 T cell activation. Nitrogen-containing bisphosphonates (N-BPs) play a crucial role in Vgamma9Vdelta2 T lymphocyte activation and in the acquisition of effector functions. The preliminary results of these innovative strategies are encouraging. Moreover, comp…
Vitamin D Deficiency in HIV Infection: Not Only a Bone Disorder
2015
Hypovitaminosis D is a worldwide disorder, with a high prevalence in the general population of both Western and developing countries. In HIV patients, several studies have linked vitamin D status with bone disease, neurocognitive impairment, depression, cardiovascular disease, high blood pressure, metabolic syndrome, type 2 diabetes mellitus, infections, autoimmune diseases like type 1 diabetes mellitus, and cancer. In this review, we focus on the most recent epidemiological and experimental data dealing with the relationship between vitamin D deficiency and HIV infection. We analysed the extent of the problem, pathogenic mechanisms, clinical implications, and potential benefits of vitamin …