Aims. The sensitivity and specificity of electrodiagnostic parameters in diagnosing carpal tunnel syndrome (CTS) have been reported differently, and this study aims to address this gap. Methods. This case-control study was conducted on 57 cases with CTS and 58 controls without complaints, such as pain or paresthesia on the median nerve. The main assessed electrodiagnostic parameters were terminal latency index (TLI), residual latency (RL), median ulnar F-wave latency difference (FdifMU), and median sensory latency-ulnar motor latency difference (MSUMLD). Results. The mean age in cases and controls were 50.7 years (SD 9.9) and 47.9 years (SD 12.1), respectively. The CTS severity was mild in 20 patients (34.4%), moderate in 19 patients (32.8%), and severe in 19 patients (32.8%). The sensitivity and specificity of the electrodiagnostic parameters in diagnosing CTS were as follows: TLI 75.4% and 87.8%; RL 85.9% and 82.5%; FdifMU 87.9% and 82.9%; and MSUMLD 94.8% and 60.0%, respectively. Conclusion. Our findings indicated that electrodiagnostic parameters are significantly associated with the clinical manifestation of CTS, and are associated with high diagnostic accuracy in CTS diagnosis. However, further studies are required to highlight the role of electrodiagnostic parameters and their combination in CTS detection. Cite this article: Bone Jt Open 2024;5(10):898–903

Experience with thirty-eight Asian children and adolescents who presented with either stiffness of the knee, genu recurvatum, habitual dislocation of the patella or congenital lateral dislocation of the patella showed that all those disorders were manifestations of contracture of the extensor mechanism, which fell into two groups according to the components involved. In Group I the main components affected were in the midline of the limb, namely rectus femoris and vastus intermedius; these patients presented with varying degrees of stiffness of the knee, or worse, with genu recurvatum. In Group II the main components involved were lateral to the midline of the limb, namely vastus lateralis and the ilio-tibial band; these patients presented with habitual dislocation of the patella, or worse, congenital lateral dislocation of the patella. In both groups untreated patients developed secondary adaptive changes such as subluxation of the tibia or marked genu valgum which made operative procedures more formidable and less effective. Release of the contracture should therefore be performed as early as possible.

Objectives. X-linked hypophosphataemic rickets (XLHR) is a disease of impaired bone mineralization characterized by hypophosphataemia caused by renal phosphate wasting. The main clinical manifestations of the disorder are O-shaped legs, X-shaped legs, delayed growth, and bone pain. XLHR is the most common inheritable form of rickets, with an incidence of 1/20 000 in humans. It accounts for approximately 80% of familial cases of hypophosphataemia and serves as the prototype of defective tubular phosphate (PO4. 3+. ) transport, due to extra renal defects resulting in unregulated FGF23 activity. XLHR is caused by loss-of-function mutations in the PHEX gene. The aim of this research was to identify the genetic defect responsible for familial hypophosphataemic rickets in a four-generation Chinese Han pedigree and to analyze the function of this mutation. Methods. The genome DNA samples of all members in the pedigree were extracted from whole blood. We sequenced all exons of the PHEX and FGF23 genes, as well as the adjacent splice site sequence with Sanger sequencing. Next, we analyzed the de novo mutation c.1692 del A of the PHEX gene with an online digital service and investigated the mutant PHEX with SWISS-MODEL, immunofluorescence, and protein stability detection. Results. Through Sanger sequencing, we found a de novo mutation, c.1692 del A, in exon 16 of the PHEX gene in this pedigree. This mutation can make the PHEX protein become unstable and decay rapidly, which results in familial XLHR. Conclusion. We have found a de novo loss-of-function mutation, c.1692 del A, in exon 16 of the PHEX gene that can cause XLHR. Cite this article: J. Huang, X. Bao, W. Xia, L. Zhu, J. Zhang, J. Ma, N. Jiang, J. Yang, Q. Chen, T. Jing, J. Liu, D. Ma, G. Xu. Functional analysis of a de novo mutation c.1692 del A of the PHEX gene in a Chinese family with X-linked hypophosphataemic rickets. Bone Joint Res 2019;8:405–413. DOI: 10.1302/2046-3758.88.BJR-2018-0276.R1

The mucopolysaccharidoses (MPS) are a group of inherited lysosomal storage disorders with clinical manifestations relevant to the orthopaedic surgeon. Our aim was to review the recent advances in their management and the implications for surgical practice. The current literature about MPSs is summarised, emphasising orthopaedic complications and their management. Recent advances in the diagnosis and management of MPSs include the recognition of slowly progressive, late presenting subtypes, developments in life-prolonging systemic treatment and potentially new indications for surgical treatment. The outcomes of surgery in these patients are not yet validated and some procedures have a high rate of complications which differ from those in patients who do not have a MPS. The diagnosis of a MPS should be considered in adolescents or young adults with a previously unrecognised dysplasia of the hip. Surgeons treating patients with a MPS should report their experience and studies should include the assessment of function and quality of life to guide treatment. Cite this article: Bone Joint J 2017;99-B:1132–9

Aims. Sickle cell disease (SCD) is an autosomal recessive inherited condition that presents with a number of clinical manifestations that include musculoskeletal manifestations (MM). MM may present differently in different individuals and settings and the predictors are not well known. Herein, we aimed at determining the predictors of MM in patients with SCD at the University Teaching Hospital, Lusaka, Zambia. Methods. An unmatched case-control study was conducted between January and May 2019 in children below the age of 16 years. In all, 57 cases and 114 controls were obtained by systematic sampling method. A structured questionnaire was used to collect data. The different MM were identified, staged, and classified according to the Standard Orthopaedic Classification Systems using radiological and laboratory investigations. The data was entered in Epidata version 3.1 and exported to STATA 15 for analysis. Multiple logistic regression was used to determine predictors and predictive margins were used to determine the probability of MM. Results. The cases were older median age 9.5 (interquartile range (IQR) 7 to 12) years compared to controls 7 (IQR 4 to 11) years; p = 0.003. After multivariate logistic regression, increase in age (adjusted odds ratio (AOR) = 1.2, 95% confidence interval (CI) 1.04 to 1.45; p = 0.043), increase in the frequency of vaso-occlusive crisis (VOC) (AOR = 1.3, 95% CI 1.09 to 1.52; p = 0.009) and increase in percentage of haemoglobin S (HbS) (AOR = 1.18, 95% CI 1.09 to 1.29; p < 0.001) were significant predictors of MM. Predictive margins showed that for a 16-year-old the average probability of having MM would be 51 percentage points higher than that of a two-year-old. Conclusion. Increase in age, frequency of VOC, and an increase in the percentage of HbS were significant predictors of MM. These predictors maybe useful to clinicians in determining children who are at risk. Cite this article: Bone Joint Open 2020;1-6:175–181

Aims. Spinal tuberculosis (TB) remains an important concern. Although spinal TB often has sequelae such as myelopathy after treatment, the predictive factors affecting such unfavourable outcomes are not yet established. We investigated the clinical manifestations and predictors of unfavourable treatment outcomes in patients with spinal TB. Patients and Methods. We performed a multicentre retrospective cohort study of patients with spinal TB. Unfavourable outcome was defined according to previous studies. The prognostic factors for unfavourable outcomes as the primary outcome were determined using multivariable logistic regression analysis and a linear mixed model was used to compare time course of inflammatory markers during treatment. A total of 185 patients were included, of whom 59 patients had unfavourable outcomes. Results. In multivariate regression analysis, the factors associated with unfavourable outcome were old age (odds ratio (OR) 2.51; 95% confidence interval (CI) 1.07 to 5.86; p = 0.034), acid-fast bacilli (AFB) smear positivity in specimens obtained through biopsy (OR 3.05; 95% CI 1.06 to 8.80; p = 0.039), and elevated erythrocyte sedimentation rate (ESR) at the end of treatment (OR 3.85; 95% CI 1.62 to 9.13; p = 0.002). Patients with unfavourable outcomes had a significant trend toward higher ESR during treatment compared with patients with favourable outcome (p = 0.009). Duration of anti-TB and surgical treatment did not affect prognosis. Conclusion. Elevated ESR at the end of treatment could be used as a marker to identify spinal TB patients with a poor prognosis. Patients whose ESR is not normalized during treatment, as well as those with old age and AFB smear positivity, should be aware of unfavourable outcomes. Cite this article: Bone Joint J 2019;101-B:1542–1549

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Knee osteoarthritis (OA) involves a variety of tissues in the joint. Gene expression profiles in different tissues are of great importance in order to understand OA.

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This study aimed, through bioinformatics analysis, to identify the potential diagnostic markers of osteoarthritis, and analyze the role of immune infiltration in synovial tissue.

Neuralgic amyotrophy is an uncommon condition characterised by the acute onset of severe pain in the shoulder and arm, followed by weakness and atrophy of the affected muscles, and sensory loss as the pain subsides. The diversity of its clinical manifestations means that it may present to a variety of different specialties within medicine. This article describes the epidemiology, aetiopathogenesis, clinical features, differential diagnoses, investigations, treatment, course and prognosis of the condition

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Metal particles detached from metal-on-metal hip prostheses (MoM-THA) have been shown to cause inflammation and destruction of tissues. To further explore this, we investigated the histopathology (aseptic lymphocyte-dominated vasculitis-associated lesions (ALVAL) score) and metal concentrations of the periprosthetic tissues obtained from patients who underwent revision knee arthroplasty. We also aimed to investigate whether accumulated metal debris was associated with ALVAL-type reactions in the synovium.

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In order to release the contracture band completely without damaging normal tissues (such as the sciatic nerve) in the surgical treatment of gluteal muscle contracture (GMC), we tried to display the relationship between normal tissue and contracture bands by magnetic resonance neurography (MRN) images, and to predesign a minimally invasive surgery based on the MRN images in advance.

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The metabolic variations between the cartilage of osteoarthritis (OA) and Kashin-Beck disease (KBD) remain largely unknown. Our study aimed to address this by conducting a comparative analysis of the metabolic profiles present in the cartilage of KBD and OA.

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Rheumatoid arthritis (RA) is a common chronic immune disease. Berberine, as its main active ingredient, was also contained in a variety of medicinal plants such as Berberaceae, Buttercup, and Rutaceae, which are widely used in digestive system diseases in traditional Chinese medicine with anti-inflammatory and antibacterial effects. The aims of this article were to explore the therapeutic effect and mechanism of berberine on rheumatoid arthritis.

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We aimed to evaluate the utility of ⁶⁸Ga-citrate positron emission tomography (PET)/CT in the differentiation of periprosthetic joint infection (PJI) and aseptic loosening (AL), and compare it with ^99mTc-methylene bisphosphonates (^99mTc-MDP) bone scan.

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Osteoarthritis (OA) is a prevalent joint disorder with inflammatory response and cartilage deterioration as its main features. Dihydrocaffeic acid (DHCA), a bioactive component extracted from natural plant (gynura bicolor), has demonstrated anti-inflammatory properties in various diseases. We aimed to explore the chondroprotective effect of DHCA on OA and its potential mechanism.

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The prevalence of scoliosis is not known in patients with idiopathic short stature, and the impact of treatment with recombinant human growth hormone on those with scoliosis remains controversial. We investigated the prevalence of scoliosis radiologically in children with idiopathic short stature, and the impact of treatment with growth hormone in a cross-sectional and retrospective cohort study.

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

Three cases of spinal osteomyelitis due to brucellosis are reported, all in women. Radiological confirmation was delayed for at least three months after the first clinical manifestation, while in one patient a bone scan was positive at an early stage. In two of the three cases the diagnosis was delayed because of insufficient awareness of the disease. Spinal osteomyelitis caused by Brucella is indistinguishable radiologically from that caused by other micro-organisms and needle aspiration or exploration is frequently performed to establish the correct diagnosis. Increased awareness of brucellosis and the carrying out of appropriate blood cultures and serological tests may make these procedures unnecessary

A girl aged ten, of Cape Coloured stock, with typical features of parastremmatic dwarfism has been investigated. The clinical manifestations included disproportionate dwarfism, limb deformity, a short stiff neck, and marked thoracic kyphosis. The radiographic changes were dramatic, the skeleton having a "flocky" appearance due to patches of radiolucency in an irregular lattice of sclerosis. The metaphyses and epiphyses of the long bones were grossly expanded, and the vertebrae were flattened and distorted. The clinical and radiographic features of five other previously reported individuals with parastremmatic dwarfism were very similar to those of our patient. The differential diagnosis of this condition includes metatrophic dwarfism, diatrophic dwarfism and the spondylo-epiphysial dysplasias. However, the unique "flocky" radiographic appearance of the bones permits diagnostic precision. There is some evidence to indicate that parastremmatic dwarfism might be transmitted as an autosomal dominant, although this is by no means certain. The fact that our patient had seven normal siblings and unaffected parents would be compatible woth autosomal recessive inheritance

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The purpose of this study was to compare the clinical outcomes, mortalities, implant survival rates, and complications of total knee arthroplasty (TKA) in patients with or without hepatitis B virus (HBV) infection over at least ten years of follow-up.