Search results for "Musculoskeletal diseases"
showing 10 items of 842 documents
NOTCH, a new signaling pathway implicated in holoprosencephaly.
2011
International audience; Genetics of Holoprosencephaly (HPE), a congenital malformation of the developing human forebrain, is due to multiple genetic defects. Most genes that have been implicated in HPE belong to the sonic hedgehog signaling pathway. Here we describe a new candidate gene isolated from array comparative genomic hybridization redundant 6qter deletions, DELTA Like 1 (DLL1), which is a ligand of NOTCH. We show that DLL1 is co-expressed in the developing chick forebrain with Fgf8. By treating chick embryos with a pharmacological inhibitor, we demonstrate that DLL1 interacts with FGF signaling pathway. Moreover, a mutation analysis of DLL1 in HPE patients revealed a three-nucleoti…
Effects of loss of metatarsophalangeal joint mobility on gait in rheumatoid arthritis patients
2005
Objective. To evaluate the effects of loss of range of motion (ROM) of the metatarsophalangeal (MTP) joint on the kinematic parameters of walking in rheumatoid arthritis (RA) patients. Methods. Inclusion of RA patients with inactive disease, no synovitis of the inferior limb and reduced ROM of the MTP joints. Evaluation of the ROM of the MTP dorsal and plantar flexion, and gait analysis using a three-dimensional computerized movement analysis. Calculation of gait parameters and maximal flexion and extension of the hips and knees during walking. Analysis 1 compared the ROM of dorsal and plantar flexion in patients with or without walking pain; 2 compared the gait parameters between patients …
Widespread pain among 11-year-old Finnish twin pairs
2001
Objective To examine the prevalence of widespread musculoskeletal pain (WSP) symptoms in 11-year-old Finnish twins and to determine the relative role of genetic and environmental factors in the etiology of WSP. Methods Data on current pain items were collected from 1995 to 1998 from a national sample of Finnish families with 11-year-old twins born between 1984 and 1987. The presence of WSP was determined using a validated questionnaire method. Pairwise similarity was computed for 583 monozygotic (MZ) pairs, 588 same-sex dizygotic (DZ) pairs, and 618 opposite-sex DZ twin pairs. Variance components for genetic and environmental factors were estimated using biometric structural equation modeli…
Genetic determinants of heel bone properties: genome-wide association meta-analysis and replication in the GEFOS/GENOMOS consortium
2014
Quantitative ultrasound of the heel captures heel bone properties that independently predict fracture risk and, with bone mineral density (BMD) assessed by X-ray (DXA), may be convenient alternatives for evaluating osteoporosis and fracture risk. We performed a meta-analysis of genome-wide association (GWA) studies to assess the genetic determinants of heel broadband ultrasound attenuation (BUA; n = 14 260), velocity of sound (VOS; n = 15 514) and BMD (n = 4566) in 13 discovery cohorts. Independent replication involved seven cohorts with GWA data (in silico n = 11 452) and new genotyping in 15 cohorts (de novo n = 24 902). In combined random effects, meta-analysis of the discovery and repli…
Clinical spectrum time course in anti jo-1 positive antisynthetase syndrome: Results from an international retrospective multicenter study
2015
Anti Jo-1 antibodies are the main markers of the antisynthetase syndrome (ASSD), an autoimmune disease clinically characterized by the occurrence of arthritis, myositis, and interstitial lung disease (ILD). These manifestations usually co-occur (for practical purpose complete forms) in the same patient, but cases with only 1 or 2 of these findings (for practical purpose incomplete forms) have been described. In incomplete forms, the ex novo occurrence of further manifestations is possible, although with frequencies and timing not still defined. The aim of this international, multicenter, retrospective study was to characterize the clinical time course of anti Jo-1 positive ASSD in a large c…
Is minor salivary gland biopsy more than a diagnostic tool in primary Sjorgren's syndrome? Association between clinical, histopathological, and molec…
2014
Objectives: Several histological scoring systems, including the focus score, performed in minor salivary glands (MSGs) by hematoxylin-eosin (H&E) staining, have been employed in clinical practice to assess the inflammatory infiltrate and provide the diagnosis of primary Sjorgren's syndrome (pSS). Aims of this study were to integrate different scoring systems and identify potential differences in the molecular profile of lymphoid cytokines related to germinal center (GC) formation and clinical subsets in pSS. Methods: Overall, 104 pSS patients and 40 subjects with sicca non-pSS were retrospectively evaluated. MSG biopsies were evaluated by H&E and immunofluorescence to assess histological pa…
The effect of the pro-inflammatory cytokine tumor necrosis factor-alpha on human joint capsule myofibroblasts.
2009
Introduction Previous studies have shown that the number of myoblastically differentiated fibroblasts known as myofibroblasts (MFs) is significantly increased in stiff joint capsules, indicating their crucial role in the pathogenesis of post-traumatic joint stiffness. Although the mode of MFs' function has been well defined for different diseases associated with tissue fibrosis, the underlying mechanisms of their regulation in the pathogenesis of post-traumatic joint capsule contracture are largely unknown. Methods In this study, we examined the impact of the pro-inflammatory cytokine tumor necrosis factor-alpha (TNF-α) on cellular functions of human joint capsule MFs. MFs were challenged w…
Early Life Origins of All-Cause and Cause-Specific Disability Pension: Findings from the Helsinki Birth Cohort Study
2015
BackgroundThere is some evidence linking sub-optimal prenatal development to an increased risk of disability pension (DP). Our aim was to investigate whether body size at birth was associated with transitioning into all-cause and cause-specific DP during the adult work career.Methods10 682 people born in 1934-44 belonging to the Helsinki Birth Cohort Study had data on birth weight extracted from birth records, and on time, type and reason of retirement between 1971 and 2011 extracted from the Finnish Centre for Pensions.ResultsAltogether 21.3% transitioned into DP during the 40-year follow-up, mainly due to mental disorders, musculoskeletal disorders and cardiovascular disease. Average age …
EMG-guided percutaneous placement of cement-augmented pedicle screws for osteoporotic thoracolumbar burst fractures
2017
Background: Percutaneous techniques have increasingly gained popularity in recent years. The application of technological innovation, including neuromonitoring techniques, has the potential to increase the safety and efficacy of these procedures. Methods: Thirty patients suffering from osteoporotic dorsolumbar burst fracture were prospectively enrolled in this study. The patients underwent percutaneous fenestrated pedicle screw fixation augmented with polymethylmethacrylate (PMMA) injection. A novel surgeon-dedicated neuromonitoring device was used in order to increase the safety and the accuracy of the screw insertion. A second group of 30 patients who did not undergo neuromonitoring durin…
Immediate effects of active versus passive scapular correction on pain and pressure pain threshold in patients with chronic neck pain.
2012
OBJECTIVE: The purpose of this study was to investigate the effect of active vs passive scapular correction on pain and pressure pain threshold at the most symptomatic cervical segment in patients with chronic neck pain. METHODS: Twenty-three volunteers with chronic, idiopathic neck pain were recruited (age, 38.9 ± 14.4 years; sex [man/woman], 3/20; Neck Disability Index, 28.1% ± 9.9%). Subjects were randomly allocated to 2 groups: active scapular correction or passive scapular correction. Pressure pain threshold and pain intensity rated on a numerical rating scale during a posteroanterior glide over the most symptomatic cervical segment were measured before and immediately after the active…