European spine journal : official publication of the European Spine Society, the European Spinal Deformity Society, and the European Section of the Cervical Spine Research Society
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Review
Ageing and degenerative changes of the intervertebral disc and their impact on spinal flexibility.
Degeneration of the intervertebral disc is associated with various morphological changes of the disc itself and of the adjacent structures, such as reduction of the water content, collapse of the intervertebral space, disruption and tears, and osteophytes. These morphological changes of the disc are linked to alterations of the spine flexibility. This paper aims to review the literature about the ageing and degenerative changes of the intervertebral disc and their link with alterations in spinal biomechanics, with emphasis on flexibility. ⋯ The literature suggests that the degenerative changes of the intervertebral disc and surrounding structures lead to subtle alteration of the mechanical properties of the functional spinal unit. A trend toward spinal stiffening with the increasing degeneration has been observed in most studies.
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Review
Advances in the diagnosis of degenerated lumbar discs and their possible clinical application.
One possible source of chronic low back pain is a degenerated intervertebral disc. In this review, various diagnostic methods for the assessment of the presence of degenerative changes are described. These include clinical MRI, a number of novel MRI techniques and nuclear magnetic resonance spectroscopy. ⋯ A reliable diagnostic tool that could help a clinician to determine if a disc is the source of the pain in patients with chronic LBP is still not available. New MRI techniques are under investigation that could result in a significant improvement over current methods, particularly as they can allow monitoring, not only of morphological but also of biochemical changes.
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To investigate what interventions can improve walking ability in neurogenic claudication with lumbar spinal stenosis. ⋯ Current evidence for surgical and non-surgical treatment to improve walking ability is of low and very low quality and thus prohibits recommendations to guide clinical practice.
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The phenotype, or observable trait of interest, is at the core of studies identifying associated genetic variants and their functional pathways, as well as diagnostics. Yet, despite remarkable technological developments in genotyping and progress in genetic research, relatively little attention has been paid to the equally important issue of phenotype. This is especially true for disc degeneration-related disorders, and the concept of degenerative disc disease, in particular, where there is little consensus or uniformity of definition. ⋯ While both have advantages, it cannot be assumed that associated gene variants will be similarly relevant to both. Among other considerations are factors influencing phenotype identification, comorbidities that are often present, and measurement issues. Genodisc, the European research consortium project on disc-related clinical pathologies has adopted a strategy that will allow for the careful characterisation and examination of both the complex clinical phenotypes of interest and their components.
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Review
Genetics of disc-related disorders: current findings and lessons from other complex diseases.
Disc-related disorders are highly genetic conditions with heritability estimates of up to 75 % and yet, few genomic locations have been moderately associated with the disorders. Candidate gene studies have shown possible disease associations on loci and genes of 1p21.1 (COL11A1), 6q27 (THBS2), 9q22.31 (ASPN), 10p12.31 (SKT), 20q11.2 (GDF5) and 20q13.12 (MMP9). More recently, in 2012, the first genome-wide association study revealed variants on loci and genes of 3p26.2, 6p21.32 (HLA region) and 6q26 (PARK2) that associate with disc-related disorders. ⋯ The past decade has taught us that the common variants seen throughout populations seem to have low effects in many common diseases, explain relatively little of the overall heritability of the diseases and demand thousands of study subjects to identify associations. It seems that familial rare variants play an important role in many common diseases leading us back to valuing studies with large families and isolated populations. Moreover, careful characterization of environmental conditions are needed to explore and determine gene-environment interactions as genes that increase disease risk in one context may not do so under another context.