Rationale: Cystic fibrosis transmembrane conductance regulator (CFTR) is expressed in human skeletal muscle cells. Variations of CFTR dysfunction among patients with cystic fibrosis may be an important determinant of maximal exercise capacity in cystic fibrosis. Previous studies on the relationship between CFTR genotype and maximal exercise capacity are scarce and contradictory. Objectives: This study was designed to explore factors influencing maximal exercise capacity, expressed as peak oxygen uptake (V. o2peak), with a specific focus on CFTR genotype in children and adults with cystic fibrosis. Methods: In an international, multicenter, cross-sectional study, we collected data on CFTR genotype and cardiopulmonary exercise tests in patients with cystic fibrosis who were ages 8 years and older. CFTR mutations were classified into functional classes I–V. Results: The final analysis included 726 patients (45% females; age range, 8–61 yr; forced expiratory volume in 1 s, 16 to 123% predicted) from 17 cystic fibrosis centers in North America, Europe, Australia, and Asia, all of whom had both valid maximal cardiopulmonary exercise tests and complete CFTR genotype data. Overall, patients exhibited exercise intolerance (V. o2peak, 77.3 ± 19.1% predicted), but values were comparable among different CFTR classes. We did not detect an association between CFTR genotype functional classes I–III and either V. o2peak (percent predicted) (adjusted β = −0.95; 95% CI, −4.18 to 2.29; P = 0.57) or maximum work rate (Wattmax) (adjusted β = −1.38; 95% CI, −5.04 to 2.27; P = 0.46) compared with classes IV–V. Those with at least one copy of a F508del-CFTR mutation and one copy of a class V mutation had a significantly lower V. o2peak (β = −8.24%; 95% CI, −14.53 to −2.99; P = 0.003) and lower Wattmax (adjusted β = −7.59%; 95% CI, −14.21 to −0.95; P = 0.025) than those with two copies of a class II mutation. On the basis of linear regression analysis adjusted for relevant confounders, lung function and body mass index were associated with V. o2peak. Conclusions: CFTR functional genotype class was not associated with maximal exercise capacity in patients with cystic fibrosis overall, but those with at least one copy of a F508del-CFTR mutation and a single class V mutation had lower maximal exercise capacity.

Despite the disabling nature of ankle osteoarthritis (OA), there is poor scientific evidence for a conservative treatment compared to the hip and knee OA. In this regard, most of the treatment options in use are not based on clinical studies of the ankle, and they are extracted from evidence obtained from clinical studies of other lower limb joints. However, this does not seem to be a good idea, since the aetiology of ankle OA is quite different from that of the hip or knee. Nonpharmacological and pharmacological treatments such as nonsteroidal anti-inflammatory drugs, hyaluronic acid, corticosteroid, platelet-rich plasma injection and mesenchymal stem cells injections have been reported. However, further research is required in this field to obtain a specific clinical practice guideline for the conservative treatment of ankle OA.

Ankle deformity is a disabling condition especially if concomitant with osteoarthritis (OA). Varus ankle OA is one of the most common ankle OA deformities. This deformity usually leads to unequal load distribution in the ankle joint and decreases joint contact surface area, leading to a progressive degenerative arthritic situation. Varus ankle OA might have multiple causative factors, which might present as a single isolated factor or encompassed together in a single patient. The etiologies can be classified as post-traumatic (e.g., after fractures and lateral ligament instability), degenerative, systemic, neuromuscular, congenital, and others. Treatment options are determined by the degree of the deformity and analyzing the pathology, which range from the conservative treatments up to surgical interventions. Surgical treatment of the varus ankle OA can be classified into two categories, joint-preserving surgery (JPS) and joint-sacrificing surgery (JSS) as total ankle arthroplasty and ankle arthrodesis. JPS is a valuable treatment option in varus ankle OA, which should not be neglected since it has showed a promising result, optimizing biomechanics and improving the survivorship of the ankle joint.

Background: Charcot neuroarthropathy is a non-infective, destructive process occurring in patients rendered insensate by peripheral neuropathy, which is caused mainly by diabetes. Repetitive trauma from standing and walking provides a neuro-traumatic stimulus that leads to dislocation, or peri-articular fracture, or both, within the ankle. This review concentrates on the management protocols regarding the ankle only. Methods: A Pubmed search for clinical trials performed to manage ankle Charcot neuroarthropathy and a systematic review of these articles were undertaken. Results: Twenty papers met the inclusion criteria: four of them describe non-surgical management, while the rest show different surgical management options of ankle Charcot neuroarthropathy. Conclusions: Surgical algorithms for the treatment of CN of the ankle are based almost entirely on level four. There is inconclusive evidence concerning the timing of treatment and the use of different fixation methods. Instability and ulceration are the main precursors for surgical interventions. Prospective series and randomized studies, albeit difficult to perform, are necessary to support and strengthen current practice.

Achilles tendon ruptures that are not immediately recognized and treated are sometimes diagnosed as delayed injuries and may require different surgical repair options based on gap size. The potential complications associated with using an allograft for reconstruction may lead some surgeons to prefer the use of autologous techniques. However, allografts are often considered a salvagement option when large defects are present. In this study, we examined the long-term clinical outcomes and complications of 17 patients who underwent surgical repair for chronic ruptures with large gaps using both autologous and allograft techniques. During an 11-year period, nine patients were treated with autologous techniques (mean gap of 4.33 ± 1.32 cm) and Achilles allograft reconstruction was performed in eight patients (47.1%) (mean gap of 7.75 ± 0.89 cm). At a mean of 82 ± 36.61 months of follow-up, all 17 patients (100%) were able to perform a single heel rise and improved AOFAS (American Orthopaedic Foot and Ankle Society) and ATRS (Achilles Tendon Total Rupture Score) scores. No infections, complications, or re-ruptures were recorded at the end of the follow-up. No significant differences were found in the AOFAS and ATRS scales between both techniques. When an extensive defect is present, the reconstruction with an Achilles tendon allograft can be considered a proper treatment option, as it does not show a higher rate of complications than autologous techniques achieving similar functional outcomes.