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 (PO43+) transport, due to extra renal defects resulting in unregulated The genome DNA samples of all members in the pedigree were extracted from whole blood. We sequenced all exons of the Objectives
Methods
Aims. The primary aim of this study was to investigate the effect of
an enhanced recovery program (ERP) on the short-term functional
outcome after total hip arthroplasty (THA). Secondary outcomes included
its effect on rates of dislocation and mortality. . Patients and Methods. Data were gathered on 1161 patients undergoing primary THA which
included 611 patients treated with traditional rehabilitation and
550 treated with an ERP. . Results. The ERP was shown to be a significant independent factor which
shortened length of stay (LOS) by a mean of 1.5 days (95% confidence
interval (CI) 1.3 to 1.8, p <
0.001) after adjusting for confounding
variables. The rates of dislocation (traditional 1.03% vs ERP
0.91%, p = 0.84) and mortality (1.5% vs 0.6%, p = 0.14)
one year post-operatively were not significantly different. Both
groups showed significant improvement in Harris Hip Score (42.8 vs 41.5)
at 12 to 18 months post-operatively and there was no significant
difference in the magnitude of improvement on univariate (p = 0.09)
and multivariate analysis (p = 0.35). There was no significant difference
in any of the eight domain scores of the Short-Form - 36 general
health surveys post-operatively (p >
0.38). . Conclusion . We conclude that an ERP after THA shortens LOS by a mean of 1.5
days and does not increase the rate of
To prevent insufficiency of the triceps after
total elbow arthroplasty, we have, since 2008, used a triceps-sparing ulnar
approach. This study evaluates the clinical results and post-operative
alignment of the prosthesis using this approach. We reviewed 25 elbows in 23 patients. There were five men and
18 women with a mean age of 69 years (54 to 83). There were 18 elbows
with rheumatoid arthritis, six with a fracture or pseudoarthrosis
and one elbow with osteoarthritis. Post-operative
The purpose of this study was to identify factors associated with limitations in function, measured by patient-reported outcome measures (PROMs), six to nine months after a proximal humeral fracture, from a range of demographic, injury, psychological, and social variables measured within a week and two to four weeks after injury. We enrolled 177 adult patients who sustained an isolated proximal humeral fracture into the study and invited them to complete PROMs at their initial outpatient visit within one week of injury, between two and four weeks, and between six to nine months after injury. There were 128 women and 49 men; the mean age was 66 years (Aims
Patients and Methods
Objectives. Venous thromboembolism (VTE) is a major potential
The purpose of this study was to compare clinical
outcomes of total knee arthroplasty (TKA) after manipulation under
anaesthesia (MUA) for post-operative stiffness with a matched cohort
of TKA patients who did not requre MUA. . In total 72 patients (mean age 59.8 years, 42 to 83) who underwent
MUA following TKA were identified from our prospective database
and compared with a matched cohort of patients who had undergone
TKA without subsequent MUA. Patients were evaluated for range of
movement (ROM) and clinical outcome scores (Western Ontario and
McMaster Universities Arthritis Index, Short-Form Health Survey,
and Knee Society Clinical Rating System) at a mean follow-up of
36.4 months (12 to 120). MUA took place at a mean of nine weeks
(5 to 18) after TKA. In patients who required MUA, mean flexion
deformity improved from 10° (0° to 25°) to 4.4° (0° to 15°) (p <
0.001),
and mean range of flexion improved from 79.8° (65° to 95°) to 116°
(80° to 130°) (p <
0.001). There were no statistically significant
differences in ROM or functional outcome scores at three months,
one year, or two years between those who required MUA and those
who did not. There were no
This is a prospective analysis on 30 physically
active individuals with a mean age of 48.9 years (35 to 64) with chronic
insertional tendinopathy of the tendo Achillis. Using a transverse
incision, the tendon was debrided and an osteotomy of the posterosuperior
corner of the calcaneus was performed in all patients. At a minimum
post-operative follow-up of three years, the Victorian Institute
of Sports Assessment scale – Achilles tendon scores were significantly
improved compared to the baseline status. In two patients a superficial
infection of the wound developed which resolved on antibiotics.
There were no other wound
The aim of this study was to evaluate blood metal ion levels, leucocyte profiles, and serum cytokines in patients with a total hip arthroplasty (THA) involving modular dual-mobility components. A total of 39 patients were recruited, with clinical follow-up of up to two years. Outcome was assessed using the Harris Hip Score (HHS, the 12-Item Short-Form Health Survey (SF-12), the Western Ontario and McMaster Universities Osteoarthritis Index (WOMAC), and a visual analogue scale (VAS) for pain. Blood concentrations of cobalt (Co), chromium (Cr), and serum cytokines were measured. Subpopulations of leucocytes were analyzed by flow cytometry.Aims
Patients and Methods
Obesity is a global epidemic of 2.1 billion people and a well known cause of osteoarthritis. Joint replacement in the obese attracts more
Primary arthroplasty may be denied to very elderly patients based upon the perceived outcome and risks associated with surgery. This prospective study compared the outcome,
The paradoxical migration of the femoral neck element (FNE) superomedially against gravity, with respect to the intramedullary component of the cephalomedullary device, is a poorly understood phenomenon increasingly seen in the management of pertrochanteric hip fractures with the intramedullary nail. The aim of this study was to investigate the role of bidirectional loading on the medial migration phenomenon, based on unique wear patterns seen on scanning electron microscopy of retrieved implants suggestive of FNE toggling. A total of 18 synthetic femurs (Sawbones, Vashon Island, Washington) with comminuted pertrochanteric fractures were divided into three groups (n = 6 per group). Fracture fixation was performed using the Proximal Femoral Nail Antirotation (PFNA) implant (Synthes, Oberdorf, Switzerland; n = 6). Group 1 was subjected to unidirectional compression loading (600 N), with an elastomer (70A durometer) replacing loose fracture fragments to simulate surrounding soft-tissue tensioning. Group 2 was subjected to bidirectional loading (600 N compression loading, 120 N tensile loading), also with the elastomer replacing loose fracture fragments. Group 3 was subjected to bidirectional loading (600 N compression loading, 120 N tensile loading) without the elastomer. All constructs were tested at 2 Hz for 5000 cycles or until cut-out occurred. The medial migration distance (MMD) was recorded at the end of the testing cycles.Objectives
Methods
The aim of this randomized trial was to compare the functional outcome of two different surgical approaches to the hip in patients with a femoral neck fracture treated with a hemiarthroplasty. A total of 150 patients who were treated between February 2014 and July 2017 were included. Patients were allocated to undergo hemiarthroplasty using either an anterolateral or a direct lateral approach, and were followed for 12 months. The mean age of the patients was 81 years (69 to 90), and 109 were women (73%). Functional outcome measures, assessed by a physiotherapist blinded to allocation, and patient-reported outcome measures (PROMs) were collected postoperatively at three and 12 months.Aims
Patients and Methods
Arthroscopy of the knee is one of the most commonly
performed orthopaedic procedures worldwide. Large-volume outcome
data have not previously been available for English NHS patients.
Prospectively collected admissions data, routinely collected on
every English NHS patient, were analysed to determine the rates
of
The Ilizarov method for leg lengthening was used for cosmetic reasons in 54 patients with constitutional short stature. A mean lengthening of 7 cm with a low rate of
We have investigated the effect of using tranexamic
acid (TXA) during peri-acetabular osteotomy (PAO) on peri-operative
blood loss and blood transfusion requirements. In addition we analysed
whether the use of TXA was associated with an increased risk of
venous thromboembolism (VTE) following this procedure. A consecutive series of 96 PAOs, performed by a single surgeon,
were reviewed. A total of 48 patients received TXA and 48 did not.
The TXA group received a continuous infusion of TXA at a rate of
10 mg/kg/h. The primary outcome measure was the requirement for
blood transfusion. Secondary outcomes included total blood loss,
the decrease in the level of haemoglobin in the blood, the length
of hospital stay, and the
There is increasing global awareness of adverse
reactions to metal debris and elevated serum metal ion concentrations
following the use of second generation metal-on-metal total hip
arthroplasties. The high incidence of these