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The Journal of Bone & Joint Surgery British Volume
Vol. 83-B, Issue 1 | Pages 22 - 28
1 Jan 2001
Bentley G Haddad F Bull TM Seingry D

We have treated 101 patients with scoliosis secondary to muscular dystrophy over a 13-year period; 64 had Duchenne’s muscular dystrophy, 33 spinal muscular atrophy and four congenital muscular dystrophy. The patients underwent a modified Luque (87) or Harrington-Luque instrumentation (14) combined with a limited Moe fusion in all except 27 cases. A mean of 13 levels was instrumented. The mean preoperative sitting Cobb angle was 84° (10 to 150) and the mean postoperative angle 40° (52% correction). Most patients (96%) were able to discard their braces and there was a high level of patient satisfaction (89.6%). Less correction was seen for severe curves, and there was a greater recurrence of postoperative pelvic tilt in those patients not instrumented to the sacrum. Although the incidence of minor or temporary complications was high, these occurred chiefly in the early high-risk patients with very severe curves and considerable pre-existing immobility


The Journal of Bone & Joint Surgery British Volume
Vol. 81-B, Issue 5 | Pages 821 - 824
1 Sep 1999
Alman BA Kim HKW

Spinal fusion, ending caudally at L5 rather than at the sacrum, is recommended for selected patients with scoliosis due to Duchenne muscular dystrophy. We present a retrospective review of 48 patients operated on for this condition. Patients having spinal curvature with a Cobb angle of less than 40° and with less than 10° between a line tangential to the superior margins of both iliac crests and a line perpendicular to the spinous processes of L4 and L5, were fused to L5 (38 patients); patients not meeting these criteria were fused to the sacrum (10 patients). Spinal and sitting obliquity increased in patients fused to L5, rather than to the sacrum, but the severity of the worsening obliquity was significantly greater in patients in whom the apex of the curve was below L1. Two of the ten latter patients required revision procedures for worsening obliquity when their pulmonary function deteriorated to less than 25% of predicted values. We recommend fusion to the sacrum for scoliosis in Duchenne muscular dystrophy, especially for patients with an apex to their curve below L1


The Bone & Joint Journal
Vol. 96-B, Issue 1 | Pages 100 - 105
1 Jan 2014
Shapiro F Zurakowski D Bui T Darras BT

We determined the frequency, rate and extent of development of scoliosis (coronal plane deformity) in wheelchair-dependent patients with Duchenne muscular dystrophy (DMD) who were not receiving steroid treatment. We also assessed kyphosis and lordosis (sagittal plane deformity). The extent of scoliosis was assessed on sitting anteroposterior (AP) spinal radiographs in 88 consecutive non-ambulatory patients with DMD. Radiographs were studied from the time the patients became wheelchair-dependent until the time of spinal fusion, or the latest assessment if surgery was not undertaken. Progression was estimated using a longitudinal mixed-model regression analysis to handle repeated measurements. Scoliosis ≥ 10° occurred in 85 of 88 patients (97%), ≥ 20° in 78 of 88 (89%) and ≥ 30° in 66 of 88 patients (75%). The fitted longitudinal model revealed that time in a wheelchair was a highly significant predictor of the magnitude of the curve, independent of the age of the patient (p <  0.001). Scoliosis developed in virtually all DMD patients not receiving steroids once they became wheelchair-dependent, and the degree of deformity deteriorated over time. In general, scoliosis increased at a constant rate, beginning at the time of wheelchair-dependency (p < 0.001). In some there was no scoliosis for as long as three years after dependency, but scoliosis then developed and increased at a constant rate. Some patients showed a rapid increase in the rate of progression of the curve after a few years – the clinical phenomenon of a rapidly collapsing curve over a few months. A sagittal plane kyphotic deformity was seen in 37 of 60 patients (62%) with appropriate radiographs, with 23 (38%) showing lumbar lordosis (16 (27%) abnormal and seven (11%) normal). This study provides a baseline to assess the effects of steroids and other forms of treatment on the natural history of scoliosis in patients with DMD, and an approach to assessing spinal deformity in the coronal and sagittal planes in wheelchair-dependent patients with other neuromuscular disorders. Cite this article: Bone Joint J 2014;96-B:100–5


The Journal of Bone & Joint Surgery British Volume
Vol. 74-B, Issue 2 | Pages 210 - 214
1 Mar 1992
Galasko C Delaney C Morris P

Of 55 patients with Duchenne muscular dystrophy offered surgical stabilisation of the spine, 32 accepted and 23 refused. We compared both groups pre-operatively and at six-month intervals in respect of survival, forced vital capacity, peak expiratory flow rate and severity of scoliosis. In the nonoperated patients, the forced vital capacity deteriorated by a mean of 8% per annum; in the operated group it remained static for 36 months and diminished slightly thereafter. Spinal stabilisation resulted in an improvement in the peak expiratory flow rate which was maintained for up to five years. In the nonoperated patients the scoliosis progressed from a mean of 37 degrees to a mean of 89 degrees at five years; in the stabilised spines it was improved from a mean of 47 degrees to a mean 34 degrees at five years. There was significantly improved survival in the patients who had undergone spinal stabilisation


The Journal of Bone & Joint Surgery British Volume
Vol. 66-B, Issue 4 | Pages 546 - 550
1 Aug 1984
Williams E Read L Ellis A Morris P Galasko C

Equinus deformity of the ankle is one of the serious orthopaedic problems associated with Duchenne muscular dystrophy. Sixty-nine patients (age range 4 to 17 years) were treated, 43 conservatively and 26 operatively. They were followed up at six-monthly intervals for a minimum of two years and a maximum of six years. The patients were divided into three groups: independently mobile, mobile in calipers, and wheelchair-bound. It was found that conservative treatment could at best only minimise progression of the deformity. The indications for surgery, the operative procedure and the postoperative management are described; all varied according to the stage of the disease. The postoperative follow-up suggests that, though the deformity recurs, the patients have several years of benefit from the procedure


The Journal of Bone & Joint Surgery British Volume
Vol. 68-B, Issue 3 | Pages 481 - 482
1 May 1986
Read L Galasko C

For clinical, psychological and social reasons the diagnosis of Duchenne muscular dystrophy should be established as early as possible. In a survey of 83 families with 93 affected boys, the diagnosis was missed in every case referred to an orthopaedic surgeon (37 patients). In the whole group there was a mean delay of 2.0 years (0 to 6 years) during which time inappropriate treatment, difficulties in communication with parents, much parental anxiety and further pregnancies occurred. A serum creatine kinase estimation is a simple outpatient test which should be carried out on any boy with clumsy or abnormal gait, with flat feet or with an unexplained equinus deformity


The Journal of Bone & Joint Surgery British Volume
Vol. 86-B, Issue 4 | Pages 550 - 555
1 May 2004
Gaine WJ Lim J Stephenson W Galasko CSB

A consecutive series of 85 patients with Duchenne’s muscular dystrophy who underwent spinal fusion over a period of 16 years was followed up with regard to the progression of the scoliosis and pelvic obliquity. Of 74 patients with adequate radiographic follow-up, 55 were instrumented with the Luque single-unit rod system and 19 with the Isola pedicle screw system; seven were instrumented to L3/4, 42 to L5, 15 to S1 and 10 to the pelvis with intrailiac rods. The mean period of follow-up was 49 months (SD 22) before and 47 months (SD 24) after operation. There was one peri-operative death and three cases of failure of hardware. The mean improvement in the Cobb angle was 26° and in pelvic obliquity, 9.2°. Fusion to L3/4 achieved a poorer correction of both curves while intrapelvic rods, achieved and maintained the best correction of pelvic obliquity. Fusion to S1 did not provide any benefit over more proximal fusion excluding the sacrum, with regard to correction and maintenance of both angles. The Isola system appeared to provide and maintain a slightly better correction of the Cobb angle



The Journal of Bone & Joint Surgery British Volume
Vol. 51-B, Issue 4 | Pages 789 - 790
1 Nov 1969
Thomas PK


The Journal of Bone & Joint Surgery British Volume
Vol. 61-B, Issue 1 | Pages 13 - 17
1 Feb 1979
Jones R Khan R Hughes S Dubowitz V


The Journal of Bone & Joint Surgery British Volume
Vol. 94-B, Issue 9 | Pages 1253 - 1259
1 Sep 2012
Sewell MD Higgs DS Al-Hadithy N Falworth M Bayley I Lambert SM

Scapulothoracic fusion (STF) for painful winging of the scapula in neuromuscular disorders can provide effective pain relief and functional improvement, but there is little information comparing outcomes between patients with dystrophic and non-dystrophic conditions. We performed a retrospective review of 42 STFs in 34 patients with dystrophic and non-dystrophic conditions using a multifilament trans-scapular, subcostal cable technique supported by a dorsal one-third semi-tubular plate. There were 16 males and 18 females with a mean age of 30 years (15 to 75) and a mean follow-up of 5.0 years (2.0 to 10.6). The mean Oxford shoulder score improved from 20 (4 to 39) to 31 (4 to 48). Patients with non-dystrophic conditions had lower overall functional scores but achieved greater improvements following STF. The mean active forward elevation increased from 59° (20° to 90°) to 97° (30° to 150°), and abduction from 51° (10° to 90°) to 83° (30° to 130°) with a greater range of movement achieved in the dystrophic group. Revision fusion for nonunion was undertaken in five patients at a mean time of 17 months (7 to 31) and two required revision for fracture. There were three pneumothoraces, two rib fractures, three pleural effusions and six nonunions. The main risk factors for nonunion were smoking, age and previous shoulder girdle surgery.

STF is a salvage procedure that can provide good patient satisfaction in 82% of patients with both dystrophic and non-dystrophic pathologies, but there was a relatively high failure rate (26%) when poor outcomes were analysed. Overall function was better in patients with dystrophic conditions which correlated with better range of movement; however, patients with non-dystrophic conditions achieved greater functional improvement.


The Journal of Bone & Joint Surgery British Volume
Vol. 60-B, Issue 4 | Pages 547 - 551
1 Nov 1978
Copeland S Howard R

Eleven thoracoscapular fusion operations have been done on six patients. The indication is symptomatic winging of the scapula caused by thoracoscapular muscle paresis with intact function in the deltoid. This situation almost exclusively occurs in facioscapulohumeral dystrophy. The operation is successful in achieving stability of the scapula and in greatly improving function and cosmesis. Although the course of this type of muscular dystrophy is variable, the benefits of operation have not deteriorated with progression of the disease over a maximum follow-up period of twenty-three years


Bone & Joint Open
Vol. 3, Issue 1 | Pages 85 - 92
27 Jan 2022
Loughenbury PR Tsirikos AI

The development of spinal deformity in children with underlying neurodisability can affect their ability to function and impact on their quality of life, as well as compromise provision of nursing care. Patients with neuromuscular spinal deformity are among the most challenging due to the number and complexity of medical comorbidities that increase the risk for severe intraoperative or postoperative complications. A multidisciplinary approach is mandatory at every stage to ensure that all nonoperative measures have been applied, and that the treatment goals have been clearly defined and agreed with the family. This will involve input from multiple specialities, including allied healthcare professionals, such as physiotherapists and wheelchair services. Surgery should be considered when there is significant impact on the patients’ quality of life, which is usually due to poor sitting balance, back or costo-pelvic pain, respiratory complications, or problems with self-care and feeding. Meticulous preoperative assessment is required, along with careful consideration of the nature of the deformity and the problems that it is causing. Surgery can achieve good curve correction and results in high levels of satisfaction from the patients and their caregivers. Modern modular posterior instrumentation systems allow an effective deformity correction. However, the risks of surgery remain high, and involvement of the family at all stages of decision-making is required in order to balance the risks and anticipated gains of the procedure, and to select those patients who can mostly benefit from spinal correction.


The Bone & Joint Journal
Vol. 106-B, Issue 7 | Pages 713 - 719
1 Jul 2024
Patel MS Shah S Elkazaz MK Shafafy M Grevitt MP

Aims

Historically, patients undergoing surgery for adolescent idiopathic scoliosis (AIS) have been nursed postoperatively in a critical care (CC) setting because of the challenges posed by prone positioning, extensive exposures, prolonged operating times, significant blood loss, major intraoperative fluid shifts, cardiopulmonary complications, and difficulty in postoperative pain management. The primary aim of this paper was to determine whether a scoring system, which uses Cobb angle, forced vital capacity (FVC), forced expiratory volume in one second (FEV1), and number of levels to be fused, is a valid method of predicting the need for postoperative critical care in AIS patients who are to undergo scoliosis correction with posterior spinal fusion (PSF).

Methods

We retrospectively reviewed all AIS patients who had undergone PSF between January 2018 and January 2020 in a specialist tertiary spinal referral centre. All patients were assessed preoperatively in an anaesthetic clinic. Postoperative care was defined as ward-based (WB) or critical care (CC), based on the preoperative FEV1, FVC, major curve Cobb angle, and the planned number of instrumented levels.


Bone & Joint Research
Vol. 13, Issue 8 | Pages 411 - 426
28 Aug 2024
Liu D Wang K Wang J Cao F Tao L

Aims

This study explored the shared genetic traits and molecular interactions between postmenopausal osteoporosis (POMP) and sarcopenia, both of which substantially degrade elderly health and quality of life. We hypothesized that these motor system diseases overlap in pathophysiology and regulatory mechanisms.

Methods

We analyzed microarray data from the Gene Expression Omnibus (GEO) database using weighted gene co-expression network analysis (WGCNA), machine learning, and Kyoto Encyclopedia of Genes and Genomes (KEGG) enrichment analysis to identify common genetic factors between POMP and sarcopenia. Further validation was done via differential gene expression in a new cohort. Single-cell analysis identified high expression cell subsets, with mononuclear macrophages in osteoporosis and muscle stem cells in sarcopenia, among others. A competitive endogenous RNA network suggested regulatory elements for these genes.


Bone & Joint Research
Vol. 12, Issue 9 | Pages 522 - 535
4 Sep 2023
Zhang G Li L Luo Z Zhang C Wang Y Kang X

Aims

This study aimed, through bioinformatics analysis and in vitro experiment validation, to identify the key extracellular proteins of intervertebral disc degeneration (IDD).

Methods

The gene expression profile of GSE23130 was downloaded from the Gene Expression Omnibus (GEO) database. Extracellular protein-differentially expressed genes (EP-DEGs) were screened by protein annotation databases, and we used Gene Ontology (GO) and the Kyoto Encyclopedia of Genes and Genomes (KEGG) to analyze the functions and pathways of EP-DEGs. STRING and Cytoscape were used to construct protein-protein interaction (PPI) networks and identify hub EP-DEGs. NetworkAnalyst was used to analyze transcription factors (TFs) and microRNAs (miRNAs) that regulate hub EP-DEGs. A search of the Drug Signatures Database (DSigDB) for hub EP-DEGs revealed multiple drug molecules and drug-target interactions.


Bone & Joint Research
Vol. 13, Issue 4 | Pages 169 - 183
15 Apr 2024
Gil-Melgosa L Llombart-Blanco R Extramiana L Lacave I Abizanda G Miranda E Agirre X Prósper F Pineda-Lucena A Pons-Villanueva J Pérez-Ruiz A

Aims

Rotator cuff (RC) injuries are characterized by tendon rupture, muscle atrophy, retraction, and fatty infiltration, which increase injury severity and jeopardize adequate tendon repair. Epigenetic drugs, such as histone deacetylase inhibitors (HDACis), possess the capacity to redefine the molecular signature of cells, and they may have the potential to inhibit the transformation of the fibro-adipogenic progenitors (FAPs) within the skeletal muscle into adipocyte-like cells, concurrently enhancing the myogenic potential of the satellite cells.

Methods

HDACis were added to FAPs and satellite cell cultures isolated from mice. The HDACi vorinostat was additionally administered into a RC injury animal model. Histological analysis was carried out on the isolated supra- and infraspinatus muscles to assess vorinostat anti-muscle degeneration potential.


Bone & Joint Open
Vol. 1, Issue 3 | Pages 19 - 28
3 Mar 2020
Tsirikos AI Roberts SB Bhatti E

Aims

Severe spinal deformity in growing patients often requires surgical management. We describe the incidence of spinal deformity surgery in a National Health Service.

Methods

Descriptive study of prospectively collected data. Clinical data of all patients undergoing surgery for spinal deformity between 2005 and 2018 was collected, compared to the demographics of the national population, and analyzed by underlying aetiology.


Bone & Joint Research
Vol. 9, Issue 7 | Pages 351 - 359
1 Jul 2020
Fitzgerald J

The ability to edit DNA at the nucleotide level using clustered regularly interspaced short palindromic repeats (CRISPR) systems is a relatively new investigative tool that is revolutionizing the analysis of many aspects of human health and disease, including orthopaedic disease. CRISPR, adapted for mammalian cell genome editing from a bacterial defence system, has been shown to be a flexible, programmable, scalable, and easy-to-use gene editing tool. Recent improvements increase the functionality of CRISPR through the engineering of specific elements of CRISPR systems, the discovery of new, naturally occurring CRISPR molecules, and modifications that take CRISPR beyond gene editing to the regulation of gene transcription and the manipulation of RNA. Here, the basics of CRISPR genome editing will be reviewed, including a description of how it has transformed some aspects of molecular musculoskeletal research, and will conclude by speculating what the future holds for the use of CRISPR-related treatments and therapies in clinical orthopaedic practice.

Cite this article: Bone Joint Res 2020;9(7):351–359.


Bone & Joint Research
Vol. 8, Issue 10 | Pages 469 - 471
1 Oct 2019
Evans CH