Search results for "Bone disease"
showing 10 items of 119 documents
Mandibular-pelvic-patellar syndrome (mpp) is a novel pitx1-related disorder due to alteration of pitx1 transactivation ability
2020
International audience; PITX1 is a homeobox transcription factor essential for hindlimb morphogenesis. Two PITX1-related human disorders have been reported to date: PITX1 ectopic expression causes Liebenberg syndrome, characterized by malformation of upper limbs showing a "lower limb" appearance; PITX1 deletions or missense variation cause a syndromic picture including clubfoot, tibial hemimelia, and preaxial polydactyly. We report two novel PITX1 missense variants, altering PITX1 transactivation ability, in three individuals from two unrelated families showing a distinct recognizable autosomal dominant syndrome, including first branchial arch, pelvic, patellar, and male genital abnormaliti…
Bone status assessed by quantitative ultrasound in children with inflammatory bowel disease: a comparison with DXA
2016
Background: To determine the bone status in children with inflammatory bowel diseases (IBD) using quantitative ultrasound (QUS) measurement at hand phalanges and compare the obtained results with dual-energy X-ray absorptiometry (DXA). Methods: Fifty-one children with IBD underwent DXA and QUS measurements at hand phalanges in the year 2013. The control group for the QUS consisted of 460 children. Reference data for DXA comes from Hologic Explorer. Results: QUS measurements did not differ significantly between IBD patients and healthy controls. There was no difference between UC and CD subjects. DXA measurements in patients with IBD were lower than in the healthy population. Tanner stage an…
Serum osteocalcin in relation to calcaneal bone mineral density in elderly men and women: a 5-year follow-up
2000
A 5-year follow-up study investigated serum concentrations of total (tOC) and intact (iOC) osteocalcin in relation to calcaneal bone mineral density (BMD). The study comprised two cohorts, 75- and 80-year-olds, both resident in the city of Jyvaskyla, Finland. Baseline OC and BMD were obtained for 161 men and 233 women, of whom 83 men and 189 women participated in follow-up bone measurements. The mean concentration of tOC increased from 9.6 +/- 4.3 to 13.2 +/- 8.5 microg/l (P = 0.001) in men and from 11.2 +/- 4.9 to 14.0 +/- 6.1 microg/l (P < 0.001) in women, whereas mean iOC decreased from 6.4 +/- 3.0 to 5.9 +/- 3.0 microg/l (P = 0.273) and from 7.7 +/- 3.7 to 6.9 +/- 3.4 microg/l (P = 0.02…
The use of zoledronic acid in patients with bone metastases from prostate carcinoma: Effect on analgesic response and bone metabolism biomarkers
2005
Zoledronic acid is a bisphosphonate that is effective in the treatment of complications of metastatic bone disease. We have carried out a perspective study on 24 consecutive patients with prostate cancer metastatic to bone to verify the effect of zoledronic acid on analgesic response and a possible relationship with the levels of bone metabolism biomarkers. Eligibility for this study required prostate cancer patients with metastatic bone disease and pain not controlled by analgesics. Patients were excluded from the study if they were receiving cytotoxic chemotherapy or radiation therapy within three months. Eighteen patients (75%) were considered responder to acid zoledronic, only 6 patient…
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…
Characterization of C4-2 Prostate Cancer Bone Metastases and Their Response to Castration
2003
New well-characterized preclinical models of prostate cancer (CaP) bone metastases are needed to improve our understanding of the development of CaP-related bone disease in patients. Here we describe characterization of a model consisting of direct injection of C4–2 cells into tibias. Introduction: Prostate cancer (CaP) has a high proclivity to metastasize to bone. Development and characterization of preclinical models of CaP bone metastases are of high interest. The objective of this study was to characterize C4–2 bone metastases and their response to castration. Materials and Methods: Cell suspensions of C4-2, a subline of LNCaP, were injected directly into the tibias of intact male mice.…
Thickness sensitivity of ultrasound velocity in long bone phantoms
2004
One approach to bone disease diagnosis such as osteoporosis is to measure the velocity of ultrasound propagating axially along long bones. In this study, the variation in velocity as a function of radial position was assessed using two polyvinyl chloride (PVC) bone phantoms with cross-sectional geometry similar to the human tibia but differing in medullary cavity diameter. Two ultrasonometers were used: these were a commercial device operating at a relatively high frequency (HF) of 1.25 MHz and a prototype low frequency (LF) device operating at approximately 200 kHz. The LF measurements showed a larger variation with radial position, with changes in velocity of up to 20% occurring around th…
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…
Natural History of Malignant Bone Disease in Gastric Cancer: Final Results of a Multicenter Bone Metastasis Survey
2013
BackgroundBone metastasis represents an increasing clinical problem in advanced gastric cancer (GC) as disease-related survival improves. In literature, few data on the natural history of bone disease in GC are available.Patients and methodsData on clinicopathology, skeletal outcomes, skeletal-related events (SREs), and bone-directed therapies for 208 deceased GC patients with evidence of bone metastasis were statistically analyzed.ResultsMedian time to bone metastasis was 8 months (CI 95%, 6.125-9.875 months) considering all included patients. Median number of SREs/patient was one. Less than half of the patients (31%) experienced at least one and only 4 and 2% experienced at least two and …