Search results for "Bone diseases"
showing 10 items of 52 documents
Phenotypic spectrum and incidence of TRPV4 mutations in patients with inherited axonal neuropathy.
2014
Objective: To clarify the phenotypic spectrum and incidence of TRPV4 mutations in patients with inherited axonal neuropathies. Methods: We screened for TRPV4 mutations in 169 French unrelated patients with inherited axonal peripheral neuropathy. Ninety-five patients had dominant Charcot-Marie-Tooth type 2 (CMT2) disease, and 74 patients, including 39 patients with distal hereditary motor neuropathy, 14 with congenital spinal muscular atrophy and arthrogryposis, 13 with CMT2, and 8 with scapuloperoneal spinal muscular atrophy, presented with additional vocal cord paralysis and/or skeletal dysplasia. Results: No deleterious TRPV4 mutation was identified in the 95 patients with “pure” CMT2 (0/…
Prenatal sonographic chest and lung measurements for predicting severe pulmonary hypoplasia.
1999
Pulmonary hypoplasia was diagnosed sonographically in 32 fetuses from 20 to 33 weeks of gestation. In addition to standard biometry, transverse thoracic diameter (TTD), sagittal thoracic diameter (TSD), thoracic circumference (TC) and lung diameter (LD) were measured in all cases and compared with known nomograms. The fetuses were divided into five groups according to the main sonographic findings: group 1—skeletal dysplasia; group 2—renal agenesis; group 3—diaphragmatic hernia; group 4—hydrothorax; and group 5—others. Severe pulmonary hypoplasia (PH) was diagnosed prenatally in all cases on the basis of LD measurements. In 17 (53.1 per cent) out of 32 cases TTD was below the 5th percentile…
Effect of exercises with weight vests and a patient education programme for women with osteopenia and a healed wrist fracture: a randomized, controll…
2015
Background Exercise programmes have shown to be important for the prevention of fractures in patients with established osteoporosis. However, few studies have evaluated the effect of such programmes for women with low bone mineral density (BMD) (osteoporosis or osteopenia) who have already suffered a fracture. Studies have indicated that exercise programmes concentrating on muscular strength and dynamic balance have a positive effect on significant risk factors for falls such as quadriceps strength and balance. The aim of the present study was to assess the effect of a 6-month exercise programme and a patient education component (OsteoACTIVE) on quadriceps strength, BMD, dynamic balance, wa…
Cathepsin L in Normal and Pathological Bone Remodeling
2011
Abstract Cathepsin L is a ubiquitous lysosomal cysteine endopeptidase that is mainly involved in the metabolic turnover of intracellular proteins. However, it is now well established that this enzyme may also be implicated in the regulation of other important biological processes includ- ing bone resorption. Therefore, altered expression levels of Cathepsin L may result in disturbances of bone homeo- stasis and, eventually, in the onset of pathological condi- tions associated with altered bone turnover. These observations support the concept that Cathepsin L may be regarded as an additional target for the development of novel therapeutic options for the treatment of patients with bone disea…
Association between osteocalcin and cognitive performance in healthy older adults.
2016
INTRODUCTION: cognitive deterioration and reductions of bone health coincide with increasing age. We examine the relationship between bone composition and plasma markers of bone remodelling with measures of cognitive performance in healthy adults.METHODS: this cross-sectional study included 225 old (52% women, mean age: 74.4 ± 3.3 years) and 134 young (52% women, mean age: 23.4 ± 2.7 years) adult participants from the MyoAge project. Whole body bone mineral density was measured by dual-energy X-ray absorptiometry. Blood analyses included a panel of bone-related peptides (dickkopf-1, osteoprotegerin, osteocalcin (OC), osteopontin, sclerostin, parathyroid hormone and fibroblast growth factor …
Evaluation of the risk factors of asymptomatic vertebral fractures in postmenopausal women with osteopenia at the femoral neck
2016
To identify risk factors of asymptomatic vertebral fracture (aVF) in postmenopausal women with osteopenia at the femoral neck and to evaluate the association between the number of aVFs and the risk of major and hip osteoporotic fracture calculated with the FRAX(®) algorithm.Epidemiological case-series study with data collected transversally.728 postmenopausal women with osteopenia were included: 284 (39.0%) had aVF, of whom 200 (70.4%) had prior fragility fractures (FF). The likelihood of having an osteoporotic fracture in the next 10 years increased significantly with the number of aVF. The percentage of women with height loss, which was assessed as the difference between the greatest heig…
Pain neuroscience education and physical exercise for patients with chronic spinal pain in primary healthcare: a randomised trial protocol.
2019
AbstractBackgroundChronic musculoskeletal pain affects more than 20% of the population, and the prevalence is increasing, causing suffering, loss of quality of life, disability, and an enormous expenditure on healthcare resources. The most common location for chronic pain is the spine. Many of the treatments used are mainly passive (pharmacological and invasive) and poor outcomes. The treatments currently applied in the public health system do not comply with the recommendations of the main clinical practice guidelines, which suggest the use of educational measures and physical exercise as the first-line treatment. A protocol based on active coping strategies is described, which will be eva…
Sonography and computed tomography in the diagnosis of orbitocranial malformations and tumors
1987
Standardized sonography and CT scanning have distinct advantages and disadvantages in the evaluation of patients with orbital diseases. Echography provides an efficient screening examination in patients presenting with signs and symptoms of orbital pathology. It allows the detection, localization, measurement and in almost 80% differentiation of orbital lesions. High resolution CT scanning gives an excellent topographic display of masses in the orbit. In visualization of intracranial causes of orbital processes and demonstration of changes in the posterior third of the orbit, in the orbital bones and the periorbital sinuses it is superior to ultrasonography.
Osteoprotegerin: a new biomarker for impaired bone metabolism in complex regional pain syndrome?
2014
Abstract Osteoprotegerin (OPG) is important for bone remodeling and may contribute to complex regional pain syndrome (CRPS) pathophysiology. We aimed to assess the value of OPG as a biomarker for CRPS and a possible correlation with radiotracer uptake in 3-phase bone scintigraphy (TPBS). OPG levels were analyzed in 23 CRPS patients (17 women; mean age 50 ± 9.0 years; disease duration: 12 weeks [IQR 8–24]), 10 controls (6 women; mean age 58 ± 9.6 years) and 21 patients after uncomplicated fractures (12 women; mean age: 43 ± 15 years; time after fracture: 15 weeks [IQR: 6–22]). The CRPS and control patients also underwent TPBS. OPG in CRPS patients was significantly increased by comparison wi…
Bio-silica and bio-polyphosphate: applications in biomedicine (bone formation)
2012
Bio-silica represents the main mineral component of the sponge skeletal elements (siliceous spicules), while bio-polyphosphate (bio-polyP), a multifunctional polymer existing in microorganisms and animals acts, among others, as reinforcement for pores in cell membranes. These natural inorganic bio-polymers, which can be readily prepared, either by recombinant enzymes (bio-silica and bio-polyP) or chemically (polyP), are promising materials/substances for the amelioration and/or treatment of human bone diseases and dysfunctions. It has been demonstrated that bio-silica causes in vitro a differential effect on the expression of the genes OPG and RANKL, encoding two mediators that control the …