Controversy surrounds the most appropriate treatment
method for patients with a rupture of the tendo Achillis. The aim
of this study was to assess the long term rate of re-rupture following
management with a non-operative
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.
Aims. The objective of this study was to compare early postoperative
functional outcomes and time to hospital discharge between conventional
jig-based total knee arthroplasty (TKA) and robotic-arm assisted
TKA. Patients and Methods. This prospective cohort study included 40 consecutive patients
undergoing conventional jig-based TKA followed by 40 consecutive
patients receiving robotic-arm assisted TKA. All surgical procedures
were performed by a single surgeon using the medial parapatellar
approach with identical implant designs and standardized postoperative inpatient
rehabilitation. Inpatient functional outcomes and time to hospital
discharge were collected in all study patients. Results. There were no systematic differences in baseline characteristics
between the conventional jig-based TKA and robotic-arm assisted
TKA treatment groups with respect to age (p = 0.32), gender (p =
0.50), body mass index (p = 0.17), American Society of Anesthesiologists
score (p = 0.88), and preoperative haemoglobin level (p = 0.82). Robotic-arm
assisted TKA was associated with reduced postoperative pain (p <
0.001), decreased analgesia requirements (p < 0.001), decreased
reduction in postoperative haemoglobin levels (p < 0.001), shorter
time to straight leg raise (p < 0.001), decreased number of physiotherapy
sessions (p < 0.001) and improved maximum knee flexion at discharge
(p < 0.001) compared with conventional jig-based TKA. Median
time to hospital discharge in robotic-arm assisted TKA was 77 hours
(interquartile range (IQR) 74 to 81) compared with 105 hours (IQR
98 to 126) in conventional jig-based TKA (p < 0.001). Conclusion. Robotic-arm assisted TKA was associated with decreased pain,
improved early
Improvement in the life expectancy of patients with primary bone tumours has led to increased emphasis on limb salvage and preservation of function. Between 1979 and 1994 we used custom-made endoprostheses in 18 patients to reconstruct diaphyseal defects after excision of primary bone tumours. The mean age at operation was 26 years (9 to 64) and the median follow-up 65 months (6 to 188). Fifteen patients have survived and are free from local or metastatic disease. Local recurrence developed in one patient. Using the modified Enneking
We identified a series of 128 patients who had unilateral open reconstruction of the anterior cruciate ligament (ACL) by a single surgeon between 1993 and 2000. In all, 79 patients were reviewed clinically and radiologically eight to 15 years after surgery. Assessment included measurement of the Lysholm and Tegner scores, the ACL quality-of-life score and the Short Form-12 score, as well as the International Knee Documentation Committee clinical assessment, measurement of laxity by the KT-1000 arthrometer, a single-leg hop test and standardised radiography of both knees using the uninjured knee as a control. Of the injured knees, 46 (57%) had definite radiological evidence of osteoarthritis (Kellgren-Lawrence grade 2 or 3), with a mean difference between the injured and non-injured knees of 1.2 grades. The median ACL quality-of-life score was 80 (interquartile range (IQR) 60 to 90), the Lysholm score 84 (IQR 74 to 95), the Short Form-12 physical component score 54 (IQR 49 to 56) and the mean Hop Index 0.94 (0.52 to 1.52). In total 58 patients were graded as normal, 20 as nearly normal and one as abnormal on the KT-1000 assessment and pivot-shift testing. Taking the worst-case scenario of assuming all non-attenders (n = 48), two septic failures and one identified unstable knee found at review to be failures, the failure rate was 40%. Only two of the patients reviewed stated that they would not have similar surgery again. Open reconstruction of the ACL gives good, durable
We have examined the relief from pain and the functional outcome in 18 patients who underwent resection arthroplasty of the shoulder as a salvage operation between 1988 and 2002. The indications included failed shoulder replacement in 17, with infection in 13, and chronic septic arthritis in one. The mean follow-up was 8.3 years (2.5 to 16.6). Two intra-operative fractures of the humerus occurred, both of which healed. The level of pain was significantly decreased (t-test, p <
0.001) but five patients continued to have moderate to severe pain. The mean active elevation was 70° (0° to 150°) postoperatively and represented an improvement from 39° (0° to 140°) (t-test, p = 0.003), but internal and external rotation were hardly changed. The mean number of positive answers on the 12-question Simple Shoulder Test was 3.1 (0 to 12) but the shoulder was generally comfortable when the arm was positioned at rest by the side. The mean post-operative American Shoulder and Elbow Surgeon’s score was 36 (8 to 73). Despite applying this procedure principally to failed shoulder replacements, the results were similar to those reported in the literature for patients after severe fracture-dislocation. Reduction of pain is possible in one half to two-thirds of patients. The outcome of this operation in providing relief from pain cannot be guaranteed, but the shoulder is usually comfortable at rest, albeit with profound
We have reviewed our recent results with
After establishing anatomical feasibility,
The use of Orthoplast cast-bracing to allow early hand function in the treatment of displaced Colles' fractures was investigated in 243 patients. They were randomly allocated into three groups: in the first a conventional Colles' type plaster was used; in the second an above-elbow cast-brace with the forearm in supination; and in the third a below-elbow cast-brace. Radiographic measurements were made at each stage of treatment, and the final anatomical result was scored using Sarmiento's (1975) criteria. Function was assessed at three months and at six months. The anatomical result was not influenced by the method of immobilisation but was related to the efficacy of reduction. Loss of position in the braces was no greater than in plaster. The
To evaluate the donor site morbidity and tendon morphology after harvesting whole length, full-thickness peroneus longus tendon (PLT) proximal to the lateral malleolus for ligament reconstructions or tendon transfer. A total of 21 eligible patients (mean age 34.0 years (standard deviation (SD) 11.2); mean follow-up period 31.8 months (SD 7.7), and 12 healthy controls (mean age, 26.8 years (SD 5.9) were included. For patients, clinical evaluation of the donor ankle was performed preoperatively and postoperatively. Square hop test, ankle strength assessment, and MRI of distal calf were assessed bilaterally in the final follow-up. The morphological symmetry of peroneal tendons bilaterally was evaluated by MRI in healthy controls.Aims
Methods
The majority of patients with chronic infantile and juvenile forms of spinal muscular atrophy survive to adult life. Forty-four patients have been reviewed at an average of 17 years after diagnosis. The subdivision of patients into four groups, based on the maximal physical function developed by the individual, correlates well with the onset and severity of secondary deformity of the limbs and spine. This information allows anticipation of the problems and plans for their treatment to be made from early childhood. After analysis of the orthotic and surgical treatment received by these patients, a specific programme of care is recommended for each of the
The PROSTALAC
1. It was observed clinically that tactile gnosis varies directly with the sudomotor function in the hand. 2. Two methods of fingerprinting were elaborated to register the sudomotor function, and consequently the tactile gnosis objectively. They are sensitive, simple to perform and suitable for clinical work. Their anatomical background, sources of error and relative value are discussed. 3. The correspondence between the sudomotor function, determined with these methods, and the tactile gnosis was established. This was done by, firstly, comparing the regions which did not perspire with the ones which became insensible on total denervation of a region of the hand; secondly, by examining the loss of function after nerve block; and thirdly, by comparing the tactile gnosis and sudomotor function in cases of residual median nerve defect. 4. These two qualities do not accompany each other in skin grafts. Grafts regain sudomotor function but never tactile gnosis. 5. A practical procedure for determining the
There is no consensus on the benefit of arthroscopically
assisted reduction of the articular surface combined with fixation
using a volar locking plate for the treatment of intra-articular
distal radial fractures. In this study we compared the functional
and radiographic outcomes of fluoroscopically and arthroscopically
guided reduction of these fractures. Between February 2009 and May 2013, 74 patients with unilateral
unstable intra-articular distal radial fractures were randomised
equally into the two groups for treatment. The mean age of these
74 patients was 64 years (24 to 92). We compared
From 1982 to 1987 we treated 85 extra-articular comminuted distal third humeral fractures in adults with prefabricated plastic braces. Of these, 15% were open fractures and 18% had initial peripheral nerve injury. On average, the sleeve was applied 12 days after injury and used for 10 weeks. There was 96% union, with no infections. All nerve injuries resolved or were improving at the latest examination. At union there was varus deformity averaging 9 degrees in 81% of patients, but loss of range of movement was minimal and
Flexor hallucis longus (FHL) tendon transfer is a well-recognized
technique in the treatment of the neglected tendo Achillis (TA)
rupture. We report a retrospective review of 20/32 patients who had undergone
transtendinous FHL transfer between 2003 and 2011 for chronic TA
rupture. Their mean age at the time of surgery was 53 years (22
to 83). The mean time from rupture to surgery was seven months (1
to 36). The mean postoperative follow-up was 73 months (29 to 120).
Six patients experienced postoperative wound complications.Aims
Patients and Methods
We report a prospective, randomised, controlled trial of 50 severely displaced comminuted Colles' fractures treated by either external fixation or manipulation and plaster. Each patient was assessed radiographically throughout treatment, and
We examined the structure of the digital flexor sheath by dissection and histology. The inner aspect of the sheath was found not to be a continuous smooth surface, as depicted in anatomical and surgical texts. The thin parts of the sheath often overlapped the pulleys before attaching to their superficial aspects, so that the pulleys possessed free edges within the sheath. The frequency of occurrence and sizes of these overlaps were studied in 48 cadaveric fingers; the largest and most frequent overlap was at the distal end of the A2 pulley.
In a prospective study, we randomly allocated 39 patients with isolated fractures of the lower two-thirds of the ulnar shaft to treatment either by a prefabricated
This work studied the fibre bundle anatomy of the anterior cruciate ligament. Three