Background Advances in multimodal treatment have improved survival of patients with nonmetastatic osteosarcoma. At the same time, implant design has improved the outcomes of limb salvage with modular endoprostheses. However, little is known about sports activity in longterm survivors with osteosarcoma. Questions/purposes We wanted to evaluate (1) sports activity levels in long-term survivors of osteosarcoma about the knee who received a modular tumor endoprosthesis; (2) to determine if activity level changed over time from initial reconstruction or (3) was predicted from sports activity level before diagnosis; and (4) if complications that occurred affected sports or contributed to prosthetic failures. Methods Between 1995 and 2005, we treated 120 patients for osteosarcoma about the knee with resection and modular endoprosthetic reconstruction; of those, 25 (21%) have died, six (5%) had an amputation, 39 (32%) did not speak German and so were ineligible, and 14 (12%) were either lost to followup or refused to participate, leaving 27 patients (14 females, 13 males; median age 19 years [range, 12-60 years); average followup 11 ± 4 years) (54% of the living, German-speaking cohort) for this analysis. Tumors were located in the distal femur (n = 16) and the proximal tibia (n = 11). Sports participation as well as the UCLA Activity Score and the modified Weighted Activity Score were assessed retrospectively. Moreover, postoperative complications were evaluated. Results Before the diagnosis of osteosarcoma and 1, 3, and 5 years and at the latest followup, respectively, after their reconstructions, 24 (89%), nine (33%), 20 (74%), and 24 patients (89%) were able to perform sports activities. There was a reduction in high-impact activities. Those patients with followup longer than 5 years had no changes in sports activity at their latest followup. Patients who had higher levels of sports activity levels before surgery generally had higher levels of activity at last followup (UCLA Activity Score: r = 0.62, p \ 0.0005; modified Weighted Activity Score r = 0.49, p \ 0.01). Fourteen patients (51%) underwent revision surgery. With the numbers available, complications had no effect on sports activity. No sports activity-related complications were found. Conclusions Some long-term survivors of osteosarcoma can achieve high levels of sports activity. Preoperative activity levels seem to influence the postoperative activity levels. This information is important to give realistic expectations for long-term survivors of osteosarcoma of the knee.

BackgroundLimited information is available about sports activities of survivors after resection and reconstruction of primary malignant bone tumors with megaprostheses. Because patients often ask what activities are possible after treatment, objective knowledge about sports activities is needed to help assess the risks of sports participation and to help guide patients’ expectations.Questions/purposesThe aims of this study were to evaluate (1) what proportion of patients with proximal-femoral megaprostheses placed as part of tumor reconstructions can perform sports; (2) what activity levels they achieved; and (3) whether sports activity levels are associated with an increased likelihood of revision.MethodsThis retrospective study considered all 27 living patients in our institutional tumor registry with enduring proximal-femoral reconstructions performed more than 5 years ago who were between the ages of 11 and 49 years at the time of the reconstruction; seven were lost to followup and one was excluded because of paraplegia as a result of a car accident and another because of senile dementia; another two were excluded from statistics because of growing prostheses and skeletal immaturity at the time of followup, leaving 16 (11 male, five female) for analysis. Their mean age was 26 ± 12 years (range, 11–49 years) at surgery, and the mean followup was 18 ± 7 years (range, 5–27 years). Types of sports, frequency per week, duration of each sports session as well as the UCLA and modified Weighted Activity Score were assessed retrospectively by an independent assessor a median of 18 years (range, 5.3–27 years) after surgery.ResultsPatients recalled that preoperatively 14 were practicing sports 5 (± 4) hours/week. At followup, 11 of the patients were practicing one or more sports activities 2 (± 3) hours/week on a regular basis. The preoperative UCLA and modified Weighted Activity Score levels of 9 and 6 fell to levels of 6 (p = 0.005) and 3 (p = 0.025), respectively, at followup. With the numbers of patients available for study, we could not determine that prosthetic failures were associated with sport activity levels.ConclusionsPatients who survive primary malignant bone tumors in the proximal femur reconstructed by megaprostheses are able to perform some sports activities. The estimates of activity levels made in this study probably are best-case estimates, given that some patients were lost to followup; patients unaccounted for might not be doing as well as those represented here. Also, the degree to which sports participation influences implant durability remains, for the most part, unanswered; studies with more patients and longer followup will be needed to determine to what degree prosthesis survivorship relates to sporting activity levels. Most patients perform low-impact sports and at a lower level than they had preoperatively. Because this is a preliminary study of a select group of patients, further information is necessary to weight the benefits of higher sports activity levels against potential risks. If thi...

Angular deformities of the lower limbs are a common clinical problem encountered in pediatric orthopaedic practices particularly in patients with osteochondrodysplasias. The varus deformity is more common than the valgus deformity in achondroplasia and hypochondroplasia patients because of the unusual growth of the fibulae than that of the tibiae. We retrospectively reviewed six patients (four patients with achondroplasia and two patients with hypochondroplsia) with relevant limb deformities due to the above-mentioned entities. All patients manifested significant varus deformity of the lower limbs. Detailed phenotypic characterization, radiologic and genetic testing was carried out as baseline diagnostic tool. We described the re-alignment procedures, which have been applied accordingly. Therefore, bilateral multi-level procedures, multi-apical planning and limb lengthening have been successfully applied. While recognition of the underlying syndromic association in patients who are manifesting angular deformities is the baseline for proper orthopaedic management, this paper demonstrates how to evaluate and treat these complex patients.

BackgroundThe clinical presentation, phenotypic characterization and natural history of fibrodysplasia ossificans progressiva (FOP) are diverse and the natural history of the disease is, to a certain extent, different from one patient to another.MethodsIn a series of 11 patients (eight girls and three boys, aged 0 - 16 years), variable clinical presentations were the landmarks of these patients. At birth, all of our patients manifested short great toes in a valgus position. Marfan syndrome was the suggested diagnosis in three children aged 3 - 8 years and in two pre-adult patients. Clinical symptoms were torticollis, painful spine, and painful and marked limitation of the pelvic movements. Monophalangia associated with Marfanoid habitus was also a prevailing clinical presentation.ResultsOur results were based upon the appearance of the earliest pathologic feature of FOP in correlation with the clinical presentation. In infants (0 - 1 year), three infants showed congenital hallux valgus and stiff spine. In the pediatric group (3 - 8 years), all children showed no mutation in the fibrillin-1 (FBN1) gene. Their prime presentation was a progressive torticollis with simultaneous development of erythematous subfascial nodules, most commonly located on the posterior neck and back. In pre-adult group (10 - 16 years), four patients presented with monophalangia associated with painful movements because of the progressive heterotopic ossification of the spine and the weight bearing zones and marked elevation of alkaline phosphatase. Genetic confirmation has been performed in six patients who manifested the classical mutation of the ACVR1 gene. The rest of the patients were assessed via clinical and radiographic phenotypes.ConclusionThe early recognition of FOP can be performed by noticing the short halluces and thumbs at early infancy and later on the high alkaline phosphatase activity in areas of heterotopic ossification. Misconception of FOP is of common practice and eventually unnecessary diagnostic biopsies might deteriorate the progression of the condition. The detection of ACVR1 gene mutation was a confirmatory procedure. Interestingly, the timing of the onset and the location of progressive heterotopic ossifications were extremely variable and confusing among our group of patients.

The plasma levels of tissue-specific microRNAs can be used as diagnostic, disease severity and prognostic biomarkers for chronic and acute diseases and drug-induced injury. Thereby, the combination of diverse microRNAs into biomarker signatures using multivariate statistics seems especially powerful from the perspective of tissue and condition specific microRNA shedding into the plasma. Although next-generation sequencing (NGS) technology enables one to analyse circulating microRNAs on a genome-scale level, it suffers from potential biases (e.g., adapter ligation bias) and lacks absolute transcript quantitation as well as tailor-made quality controls. In order to develop a robust NGS discovery assay for genome-scale quantitation of circulating microRNAs, we first evaluated the sensitivity, repeatability and ligation bias of four commercially available small RNA library preparation protocols. The protocol from RealSeq Biosciences was selected based on its performance and usability and coupled with a novel panel of exogenous small RNA spike-in controls to enable quality control and absolute quantitation, thus ensuring comparability of data across independent NGS experiments. The established microRNA Next-Generation-Sequencing Discovery Assay (miND) was validated for its relative accuracy, precision, analytical measurement range and sequencing bias and was considered fit-for-purpose for microRNA biomarker discovery. Summarized, all these criteria were met, and thus, our analytical platform is considered fit-for-purpose for microRNA biomarker discovery from biofluids in the setting of any diagnostic, prognostic or patient stratification need. The established miND assay was tested on serum, cerebrospinal fluid (CSF), synovial fluid (SF) and extracellular vesicles (EV) extracted from cell culture medium of primary cells and proved its potential to be used across different sample types.