Delineation of a new fibrillin-2-opathy with evidence for a role of FBN2 in the pathogenesis of carpal tunnel syndrome.

BACKGROUND: Although carpal tunnel syndrome (CTS) is the most common form of peripheral entrapment neuropathy, its pathogenesis remains largely unknown. An estimated heritability index of 0.46 and an increased familial occurrence indicate that genetic factors must play a role in the pathogenesis. METHODS AND RESULTS: We report on a family in which CTS occurred in subsequent generations at an unusually young age. Additional clinical features included brachydactyly and short Achilles tendons resulting in toe walking in childhood. Using exome sequencing, we identified a heterozygous variant (c.5009T>G; p.Phe1670Cys) in the fibrillin-2 (FBN2) gene that co-segregated with the phenotype in the family. Functional assays showed that the missense variant impaired integrin-mediated cell adhesion and migration. Moreover, we observed an increased transforming growth factor-ß signalling and fibrosis in the carpal tissues of affected individuals. A variant burden test in a large cohort of patients with CTS revealed a significantly increased frequency of rare (6.7% vs 2.5%-3.4%, p<0.001) and high-impact (6.9% vs 2.7%, p<0.001) FBN2 variants in patient alleles compared with controls. CONCLUSION: The identification of a novel FBN2 variant (p.Phe1670Cys) in a unique family with early onset CTS, together with the observed increased frequency of rare and high-impact FBN2 variants in patients with sporadic CTS, strongly suggest a role of FBN2 in the pathogenesis of CTS.

Reduced joint awareness after total knee arthroplasty with a cruciate retaining design.

A range of different total knee arthroplasty (TKA) designs have been developed, each specifically designed to relieve pain and restore knee function with the greatest possible patient satisfaction. The purpose of this study was to compare a posterior stabilized design and a cruciate-retaining design. We hypothesized that a cruciate-retaining design would have a higher Forgotten Joint Score (FJS) than a posterior stabilized design. Ninety-two patients were used in our analysis (46 patients in each group) involving TKA (Attune, Depuy-Synthes) between January 2014 and March 2015. We excluded patients with valgus alignment, post-traumatic arthritis, rheumatoid arthritis and major previous surgery on the knee. We compared the FJS, the Oxford Knee Score (OKS) and their ceiling effects. FJS was significantly higher in the fixed-bearing cruciate-retaining group (P=0.043). The mean (-SD) FJS for the cruciate-retaining group was 78,4-25.1 compared to 67.6-27.6 for the posterior stabilized group. No significant difference in OKS was detected. The total ceiling effect for FJS and OKS was 32.2% and 45.5%, respectively. In conclusion, patients with cruciate-retaining TKA showed a better FJS in comparison to posterior stabilized TKA. FJS has a higher discriminatory power compared to OKS.

Primary bone and soft tissue tumours : epidemiological data from a non-referral teaching department in Belgium.

Primary bone and soft tissue tumours are rare in a non-referral teaching department. The incidence varies greatly among the different subtypes and every Orthopaedic surgeon will encounter one or more benign or malignant lesions during their careers. History, clinical examination and technical investigations are of great importance, but basic knowledge and basic principles are necessary for a correct clinical practice. It was the purpose of this study to raise awareness towards such pathology by exemplifying our cases from a two-year period in our community-based hospital and if necessary, to refer patients to specialised sarcoma centres.

Medial Unicompartmental Knee Arthroplasty with a Fixed Bearing Implant.

Unicompartmental knee arthroplasty (UKA) is an alternative to total knee arthroplasty in isolated medial arthritis. UKA restores native tibial and femoral joint surfaces and corrects pre-disease limb alignment, by which natural knee biomechanics are restored, ensuring effective functional recovery. Proper patient selection and accurate surgical technique contribute to good functional outcome and long-term survival. The key steps of the procedure (as well as multiple tips and tricks) are demonstrated in the video article: (1) preoperative assessment and planning; (2) patient positioning and setup; (3) exposure; (4) instrument options and surgical technique; (5) distal femoral resection; (6) proximal tibial resection; (7) assessment of alignment and gaps; (8) finishing the femur-sizing, position, and posterior resection; (9) finishing the tibia-sizing and position; (10) trialing the implant; (11) implanting final components-cementing technique; (12) closure; and (13) rehabilitation. Following these surgical steps and principles will lead to excellent functional long-term results with a low revision rate and a minimum of complications.

Modified anconeus muscle transfer as treatment of failed surgical release of lateral epicondylitis of the elbow.

The purpose of this study was to evaluate the safety and the effectiveness of a new modified anconeus transfer technique in revision surgery for refractory lateral epicondylitis of the elbow. A modified anconeus muscle transfer was performed in nine patients with persistent symptoms after previous surgical release of the common extensor origin. The original technique was modified by using only half of the anconeus muscle. Patients were clinically evaluated, including quickDASH score and grip strength measurement. At a mean follow up period of 36 months, 4 patients had an excellent result, 3 a good result and 1 a poor result. All patients rated their clinical situation as better than before surgery. All but one patient said to be happy with the result and they would undergo the procedure again. The mean quickDash score at the follow up was 10.6 (SD 14.4). No complications were observed. The modified Anconeus muscle transfer is a safe and effective procedure in patients with persistent lateral epicondylitis complaints after a previous surgical release.