Search results for " Genetics"
showing 10 items of 4169 documents
Transient regional osteoporosis.
2014
Transient regional osteoporosis (TRO) is a disease that predisposes to fragility fracture in weight bearing joints of mid-life women and men. Pregnant women may also suffer the process, usually at the hip. The prevalence of TRO is lower than the systemic form, associated with postmenopause and advanced age, but may be falsely diminished by under-diagnosis. The disease may be uni- or bilateral, and may migrate to distinct joints. One main feature of TRO is spontaneous recovery. Pain and progressive limitation in the functionality of the affected joint(s) are key symptoms. In the case of the form associated with pregnancy, difficulties in diagnosis derive from the relatively young age at pres…
AB0465 Etanercept therapy in rheumatoid arthritis patients with moderate or severe disease activity
2013
Background Rheumatoid arthritis (RA) is conventionally defined as moderate when the disease activity score assessed in 28 joints (DAS28) is ≥3.2, and high disease with DAS28 >5.1 Objectives Aim of this analysis was to evaluate the rate of remission and LDA (low disease activity), in RA patients starting etanercept therapy with moderate disease activity in the real world settings Methods The clinical records were retrospectively analysed from the Italian nationwide registry, called GISEA (Gruppo Italiano Studio Early Arthritis). RA patients with moderate (Mod-RA) and high (H-RA) disease activity (DAS28 >3.2) with incomplete response to conventional DMARDs and beginning a treatment with etane…
Functional characterization of osteosarcoma cell lines provides representative models to study the human disease
2011
Cancer cell lines represent in vitro models for studying malignancies, general cell biology, drug discovery and more. Whether they can be considered as exact representative models of the parental tumors remains uncertain given the acquisition of additional ex vivo changes of the cells and the lack of tissue architecture and stroma. Previously, within the EuroBoNeT consortium, we characterized a collection of bone sarcoma cell lines on genomic and proteomic level. Here, we address the phenotypical and functional characterization of the unique set of osteosarcoma cell lines (n=19) in vitro and in vivo. For functional analysis of differentiation capacity, cells were stimulated towards osteobla…
Intestinal dysbiosis and hormonal neuroendocrine secretion in the fibromyalgic patient
2018
Fibromyalgia is a rheumatic syndrome and its pathogenesis is controversial. The recent literature has placed considerable attention on the link between alteration of the intestinal microbiota and fibromyalgia, emphasizing the close connection between the neuroenteric system and the CNS. This study aims to evaluate the probable relationship between intestinal dysbiosis and altered secretion of hormones and vitamins such as cortisol, serotonin, Vitamin D and thyroid hormones in a patient with fibromyalgia.
AB1197 Changes in Lumbar Spinopelvic Pattern of Movement Influence the Flexion Relaxation of the Erector Spinae
2015
Background In healthy subjects, the erector spinae muscles (ES) exhibits a relaxation of its electrical activity when the trunk is nearby its full flexion. Objectives To find out the influence of exhibiting a lumbar spine or a pelvis dominant pattern of movement during trunk flexion from upright position on the appearance of the myoelectric relaxation of the erector spinae. In healthy subjects, the erector spinae muscles (ES) exhibits a relaxation of its electrical activity when the trunk is nearby its full flexion. Objectives To find out the influence of exhibiting a lumbar spine or a pelvis dominant pattern of movement during trunk flexion from upright position on the appearance of the my…
Muscleblind, BSF and TBPH are mislocalized in the muscle sarcomere of a Drosophila myotonic dystrophy model
2012
SummaryMyotonic dystrophy type 1 (DM1) is a genetic disease caused by the pathological expansion of a CTG trinucleotide repeat in the 3' UTR of the DMPK gene. In the DMPK transcripts, the CUG expansions sequester RNA-binding proteins into nuclear foci, including transcription factors and alternative splicing regulators such as MBNL1. MBNL1 sequestration has been associated with key features of DM1. However, the basis behind a number of molecular and histological alterations in DM1 remain unclear. To help identify new pathogenic components of the disease, we carried out a genetic screen using a Drosophila model of DM1 that expresses 480 interrupted CTG repeats, i(CTG)480, and a collection of…
AB1057 risk factors associated with different lumbopelvic patterns of movement
2016
Background Rapid flexion movement increases the loading on the spine and it increases the risk of injuries 1 . In asymptomatic subjects lumbar-dominant and pelvis-dominant patterns of movement during trunk flexion have been observed 2,3 . However, little information about lumbar spine kinematics has been provided. Objectives To find out whether exhibiting different lumbopelvic patterns of movement during trunk flexion affects the kinematics of the lumbar spine in terms of velocity of motion. Methods Differential lumbar spine and pelvis angular displacement during the time course of a standardised sagittal trunk flexion from an upright position was recorded with an electromagnetic tracking d…
Training-induced increase in Achilles tendon stiffness affects tendon strain pattern during running
2019
Background During the stance phase of running, the elasticity of the Achilles tendon enables the utilisation of elastic energy and allows beneficial contractile conditions for the triceps surae muscles. However, the effect of changes in tendon mechanical properties induced by chronic loading is still poorly understood. We tested the hypothesis that a training-induced increase in Achilles tendon stiffness would result in reduced tendon strain during the stance phase of running, which would reduce fascicle strains in the triceps surae muscles, particularly in the mono-articular soleus. Methods Eleven subjects were assigned to a training group performing isometric single-leg plantarflexion co…
A10.8 Evaluation of Disease Activity in Adult Patients with Juvenile Idiopathic Arthritis
2013
Background Juvenile idiopathic arthritis (JIA) is a disease which maintains specific childish rheumatological features during whole life. There is still an open discussion which criteria of the disease activity should be used for the management of adult patients with JIA. Objectives To analyse the usefulness of known disease activity and functional indices used in adult rheumatological practise for the assessment of rheumatoid arthritis (RA) and spondyloarthritidies (SpA): disease acitivity score (DAS), disease acitivity score 28 (DAS28), Bath Ankylosing Spondylitis Disease Activity Index (BASDAI), Bath Spondylitis Functional Index (BASFI), Health Assessment Questionnaire – disability index…
Positive association of high-density lipoprotein cholesterol with lumbar and femoral neck bone mineral density in postmenopausal women.
2021
Abstract Objective Experimental studies suggest that lipids affect bone metabolism. We aimed to elucidate whether lipid levels are associated with bone mineral density (BMD) in a cohort of postmenopausal women. Design A cross-sectional study of participants in the Chronic Ailment Reduction after MENopause (CARMEN) cohort. Women underwent assessment of clinical and analytical parameters, including fasting lipid levels. BMD was assessed at both lumbar spine and hip. Homogeneity in the cohort was optimized by filtering out a series of confounding variables with a known impact on bone. Main outcome measures Association of BMD at lumbar spine and femoral neck with lipid levels. Results A total o…