Adolescent idiopathic scoliosis (AIS), defined by an age at presentation of 11 to 18 years, has a prevalence of 0.47% and accounts for approximately 90% of all cases of idiopathic scoliosis. Despite decades of research, the exact aetiology of AIS remains unknown. It is becoming evident that it is the result of a complex interplay of genetic, internal, and environmental factors. It has been hypothesized that genetic variants act as the initial trigger that allow epigenetic factors to propagate AIS, which could also explain the wide phenotypic variation in the presentation of the disorder. A better understanding of the underlying aetiological mechanisms could help to establish the diagnosis earlier and allow a more accurate prediction of deformity progression. This, in turn, would prompt imaging and therapeutic intervention at the appropriate time, thereby achieving the best clinical outcome for this group of patients.

Cite this article: Bone Joint J 2022;104-B(8):915–921.

This short contribution aims to explain how intervertebral disc ‘degeneration’ differs from normal ageing, and to suggest how mechanical loading and constitutional factors interact to cause disc degeneration and prolapse. We suggest that disagreement on these matters in medico-legal practice often arises from a misunderstanding of the nature of ‘soft-tissue injuries’.

We analysed the clinical and radiological outcomes of a new surgical technique for the treatment of heterozygote post-axial metatarsal-type foot synpolydactyly with HOX-D13 genetic mutations with a mean follow-up of 30.9 months (24 to 42). A total of 57 feet in 36 patients (mean age 6.8 years (2 to 16)) were treated with this new technique, which transfers the distal part of the duplicated fourth metatarsal to the proximal part of the fifth metatarsal. Clinical and radiological assessments were undertaken pre- and post-operatively and any complications were recorded. Final outcomes were evaluated according to the methods described by Phelps and Grogan. Forefoot width was reduced and the lengths of the all reconstructed toes were maintained after surgery. Union was achieved for all the metatarsal osteotomies without any angular deformities. Outcomes at the final assessment were excellent in 51 feet (89%) and good in six (11%). This newly described surgical technique provides for painless, comfortable shoe-wearing after a single, easy-to-perform operation with good clinical, radiological and functional outcomes.

Cite this article: Bone Joint J 2013;95-B:929–34.

The incidence of acute and chronic conditions of the tendo Achillis appear to be increasing. Causation is multifactorial but the role of inherited genetic elements and the influence of environmental factors altering gene expression are increasingly being recognised. Certain individuals’ tendons carry specific variations of genetic sequence that may make them more susceptible to injury. Alterations in the structure or relative amounts of the components of tendon and fine control of activity within the extracellular matrix affect the response of the tendon to loading with failure in certain cases.

This review summarises present knowledge of the influence of genetic patterns on the pathology of the tendo Achillis, with a focus on the possible biological mechanisms by which genetic factors are involved in the aetiology of tendon pathology. Finally, we assess potential future developments with both the opportunities and risks that they may carry.

Cite this article: Bone Joint J 2013;95-B:305–13.

Mechanical function and failure of intervertebral discs. In a healthy disc, the nucleus pulposus acts like a pressurised fluid which is restrained by tensile stress within the annulus. With increasing age, the nucleus becomes more fibrous, and biochemical changes cause the whole disc to become less elastic, and more yellow in colour. Mechanically, the hydrostatic nucleus shrinks with age, and concentrations of compressive stress appear in the posterior annulus. Experiments on cadaveric spines have shown that healthy discs can prolapse when loaded severely or repetitively in bending and compression, and that internal disruption of the disc probably follows damage to the vertebral endplates. However, mechanical loading is not necessarily harmful to living discs: on the contrary, moderate repetitive loading may lead to disc hypertrophy rather than injury. Disc degeneration. Degeneration represents some mechanical or biological “insult” superimposed on normal ageing. A defining feature of “degeneration” should be structural failure of the annulus or endplate, because all degenerated discs exhibit structural failure whereas many old discs do not. Degeneration creates high stress concentrations within the annulus. Paradoxically, severe degeneration can lead to gross disc narrowing and reduced stresses in the annulus, presumably because it is “stress shielded” by the apophyseal joints. Animal experiments show that disc degeneration always follows mechanical disruption. In some cases, it may possibly precede it. Disc degeneration and back pain. Pain-provocation studies have shown that severe and chronic back pain often originates in the posterior annulus fibrosus, and can be elicited by relatively moderate mechanical pressure. Anatomical studies indicate that the outer annulus is supplied with complex and free nerve endings from the mixed sinuvertebral nerve. MRI and discographic studies show that back pain is closely correlated with structural features of disc degeneration such as radial fissures and prolapse, although age-related changes in composition are clinically irrelevant. The stress-shielding of severely degenerated discs (see above) suggests that discogenic pain may be most closely associated with intermediate stages of degeneration. The localised stress concentrations found in degenerated cadaveric discs have been directly linked to low back pain in living people. Medico-legal implications. The widely-held belief that a disc will not prolapse unless it is degenerated is no longer compatible with the scientific evidence. Severe loading, which in life usually arises from vigorous muscle contractions, can injure normal discs. On the contrary, it seems likely that severely degenerated discs are too fibrous to prolapse, and that many of the cell-mediated changes associated with disc prolapse occur after prolapse, rather than before. However, genetic inheritance is important in disc degeneration and prolapse, suggesting that some discs are more vulnerable than others to mechanical loading. The nature of this vulnerability is largely unknown, but is likely to involve genetic weaknesses in composition, and previous fatigue damage. It would be desirable to distinguish between these last two factors, but this is likely to prove difficult in practice