Search

Porous tantalum augments are widely used in revision total hip arthroplasty for the reconstruction of severe bone defects. Here, we present the first 3 cases who underwent femoral revision arthroplasty using standard distal femoral and proximal tibial porous tantalum cones to reconstruct severe bone loss in the proximal femur. Cones were inserted press fit, followed by implantation of a cemented revision stem in all cases. After a mean follow-up period of 15.8 months, all patients showed an improved Harris-Hip-Score and no radiological signs of subsidence or loosening. Porous tantalum cones may be an option in the reconstruction of severe femoral defects in revision total hip arthroplasty. The shape of the tantalum cones should be optimized for the use in the proximal femur.

Resection arthroplasty can be performed as the first stage of a two-stage procedure in some patients with severe periprosthetic hip joint infections with poor bone stock. This retrospective study aimed to evaluate factors associated with the subsequent failure or success of these patients. Between 2011 and 2020, in 61 (26.4%) of 231 patients who underwent a two-stage protocol of periprosthetic hip joint infections, no spacer was used in the first stage. The minimum follow-up period was 12 months. Patient’s demographics and various infection risk factors were analyzed. In total, 37/61 (60.7%) patients underwent a successful reimplantation, and four patients died within the follow-up period. Patients within the failure group had a significantly higher Charlson comorbidity index (p = 0.002), number of operations prior to resection arthroplasty (p = 0.022) and were older (p = 0.018). Failure was also associated with the presence of a positive culture in the first- and second-stage procedures (p = 0.012). Additional risk factors were persistent high postoperative CRP values and the requirement of a negative-pressure wound therapy (p ≤ 0.05). In conclusion, multiple factors need to be evaluated when trying to predict the outcome of patients undergoing resection arthroplasty as the first stage of a two-stage procedure in patients with challenging periprosthetic hip joint infections.

Accurate assessment of knee alignment and leg length discrepancy is currently measured manually from standing long-leg radiographs (LLR), a process that is both time consuming and poorly reproducible. The aim was to assess the performance of a commercial available AI software by comparing its outputs with manually performed measurements. The AI was trained on over 15,000 radiographs to measure various clinical angles and lengths from LLRs. We performed a retrospective single-center analysis on 295 LLRs obtained between 2015 and 2020 from male and female patients over 18 years. AI and expert measurements were performed independently. Kellgren-Lawrence score and reading time were assessed. All measurements were compared and non-inferiority, mean-absolute-deviation (sMAD), and intra-class-correlation (ICC) were calculated. A total of 295 LLRs from 284 patients (mean age, 65 years (18; 90); 97 (34.2%) men) were analyzed. The AI model produces outputs on 98.0% of the LLRs. Manually annotations were considered as 100% accurate. For each measurement, its divergence was calculated, resulting in an overall accuracy of 89.2% when comparing the AI outputs to the manually measured. AI vs. mean observer revealed an sMAD between 0.39 and 2.19° for angles and 1.45–5.00 mm for lengths. AI showed good reliability in all lengths and angles (ICC ≥ 0.87). Non-inferiority comparing AI to the mean observer revealed an equivalence-index (γ) between 0.54 and 3.03° for angles and − 0.70–1.95 mm for lengths. On average, AI was 130 s faster than clinicians. Automated measurements of knee alignment and length measurements produced with an AI tool result in reproducible, accurate measures with a time savings compared to manually acquired measurements.

Joint replacement surgeries are one of the most frequent medical interventions globally. Infections of prosthetic joints are a major health challenge and typically require prolonged or even indefinite antibiotic treatment. As multidrug-resistant pathogens continue to rise globally, novel diagnostics are critical to ensure appropriate treatment and help with prosthetic joint infections (PJI) management. To this end, recent studies have shown the potential of molecular methods such as next-generation sequencing to complement established phenotypic, culture-based methods. Together with advanced bioinformatics approaches, next-generation sequencing can provide comprehensive information on pathogen identity as well as antimicrobial susceptibility, potentially enabling rapid diagnosis and targeted therapy of PJIs. In this review, we summarize current developments in next generation sequencing based predictive antibiotic susceptibility testing and discuss potential and limitations for common PJI pathogens.

The aim of this study was to evaluate the number of primary and revision total joint arthroplasties (TJA/rTJA) in 2020 compared to 2019. Specifically, the first and the second waves of the COVID-19 pandemic were evaluated as well as the pre-operative COVID-19 test. A cross-sectional single-center study of our prospectively maintained institutional arthroplasty registry was performed. The first COVID-19 wave and the second COVID-19 wave led to a socioeconomic lockdown in 2020. Performed surgeries, cause of revision, age, gender, and American Society of Anesthesiologists-level were analyzed. Preoperative COVID-19 testing was evaluated and nationwide COVID-19 data were compared to other countries. In 2020, there was a decrease by 16.2% in primary and revision TJAs of the hip and knee compared to 2019. We observed a reduction of 15.8% in primary TJAs and a reduction of 18.6% on rTJAs in 2020 compared to 2019. There is an incline in total hip arthroplasties (THAs) and a decline in total knee arthroplasties (TKAs) comparing 2019 to 2020. During the first wave, there was a reduction in performed primary TJAs of 86%. During the second wave, no changes were observed. This is the first study quantifying the impact of the COVID-19 pandemic on primary and revision TJAs regarding the first and second wave.

Hip dysplasia (DDH) as well as femoroacetabular impingement (FAI) are common causes of hip pain in young adults and lead to premature osteoarthritis (OA). However, not all patients with radiographic features of DDH or FAI develop symptoms and degenerative changes, which indicates that various factors play a role in the disease process. Here we use a diamond concept to illustrate anatomical factors that play a role in the pathomechanism of symptomatic DDH and FAI. This concept may help clinicians in the diagnosis of hip pain in young adults. For DDH, the following factors are included: (1) acetabular and (2) femoral morphology, (3) pelvic shape and geometry, (4) spinopelvic alignment and (5) soft tissue properties. For FAI, the following factors are included: (1) intraarticular acetabular and (2) intraarticular femoral morphology, (3) extraarticular pelvic and (4) extraarticular femoral morphology, (5) spinopelvic alignment and (6) soft tissue properties. Knowledge of these factors can help to identify an adequate treatment. Surgical treatment options include (1) extraarticular acetabular, (2) extraarticular femoral, (3) intraarticular acetabular and (4) intraarticular femoral procedures. Further research is warranted on the specific role and the interaction of the parameters presented in the diamond concept in the disease process of hip joint degeneration.

Background A positive microbiological result at reimplantation may lead to a failed 2-stage revision arthroplasty in the treatment of periprosthetic joint infections. Little is known about changes in microbiological spectrum and resistance pattern between culture positive first and second stage procedures in revision knee and hip arthroplasty. Methods Between January 2011 and December 2019, we performed 327 two-stage revision arthroplasties on 312 patients. There were 37 of 312 (11.9%) patients (20 hips/17 knees) who had a positive microbiological culture during the first and second stage procedure. We analyzed the microbiological spectrum, antimicrobial resistance pattern, and clinical outcome of culture positive first and second stage procedures as well as subsequent re-revisions. Results Re-revision was necessary in 40.5% (15/37) of patients with culture positive first and second stage procedure at a median follow-up of 3.5 years. We found microbiological changes in 83.8% (31/37) of patients between the first and second stage and in 88.9% (8/9) between the second stage and subsequent culture positive re-revision. Polymicrobial infections were found in 21.6% (8/37) of first and in 16.2% (6/37) of second stage procedures. In 27% (10/37) of patients, microorganisms persisted between the first and second stage procedure. The antimicrobial resistance pattern changed in 60% of persistent microorganisms between the first and second stage procedure. Conclusion Changes in microbiological spectrum and resistance pattern are common between culture positive first and second stage procedures as well as subsequent re-revisions. This has to be considered in the antimicrobial treatment of periprosthetic joint infections.

Introduction Lesions of the lateral cutaneous femoral nerve are a reported complication of the direct anterior approach (DAA) for total hip arthroplasty (THA). Little is known about the incidence rates of this lesion. The goal of this study was to answer the following questions: (1) Is the true incidence rate of LFCN lesions after DAA THA known? (2) What are the reasons for the wide range of reported incidence rates in the literature? (3) Are surgeons increasingly aware of the significance of LFCN lesions? Methods A US Medical Library of Medicine database search was performed for DAA THA. In total, 1261 search results were screened for reported LFCN lesions. Results Forty-five studies were included reporting LFCN lesions rates of 0–83%. Subgroup analysis for studies with (group A, 6 studies, n = 1113 cases) and without (group B, 39 studies n = 16,741) primary focus on the LFCN lesions was performed. Incidence in group A ranged from 14.8–81% (mean 31%) and 0–83% (mean 3.8%) in group B. The difference between the groups was significant (p = 0.005). No uniform and time sensitive definition of postoperative LFCN lesions was found in the literature. An analysis of the publication year and the discovered incidence rate showed an increase of incidence rates [rs = 0.521 (p Conclusion Despite the absence of a uniform definition: LFCN lesions after DAA THA are a frequent and, in the past, often underestimated complication. Level of evidence IV; systematic review of level II to level IV studies.

Background: The 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. Methods: In 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. Results: Our 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. Conclusion: The 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. J Clin Med Res. 2016;8(3):246-253 doi: http://dx.doi.org/10.14740/jocmr2465w

BackgroundNon-traumatic avascular osteonecrosis of the femoral head (ONFH) is a severe disease causing destruction of the hip joint, often necessitating total hip arthroplasty (THA) even in young patients. Magnetic resonance imaging (MRI) is commonly used for diagnosis of ONFH, but provides limited insight into the subchondral bone microstructure.PurposeTo analyze routine MRI findings in comparison to high-resolution quantitative computed tomography (HR-QCT) with a special focus on the subchondral layer and to estimate the importance of differences determining the indication for THA.Material and MethodsTwelve patients with ONFH were included before THA. Preoperative MRI and HR-QCT of the retrieved femoral heads were aligned using a registration algorithm. Pathological findings and trabecular bone parameters in matched areas were analyzed by two readers. McNemar, marginal homogeneity test, and Pearson’s correlation coefficient were used for comparison.ResultsSubchondral delamination was found in nine cases on HR-QCT, but missed or underestimated in all but one case on MRI ( P = 0.016). Chondral discontinuity was found in all cases on HR-QCT and in two cases on MRI ( P = 0.016). Areas of complete bone resorption on HR-QCT were linked to high signal intensity on 3D gradient-echo MRI sequences with water-selective excitation, while there was no correlation between trabecular bone parameters and MRI signal intensities in other areas ( P = 0.304).ConclusionSubchondral delamination, subchondral resorption, and chondral discontinuity are found frequently in advanced stages of ONFH. These lesions tend to be underestimated on conventional MRI. Our results support the importance of CT imaging in the evaluation of ONFH.

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 long-term survivors with osteosarcoma.

Rationale: Craniosynostosis is a disorder characterized by premature fusion of cranial sutures with subsequent development of abnormal craniofacial contour associated with variable skeletal and extra-skeletal abnormalities. In this family syndromic type of craniosynostosis was recognized and the etiology behind diverse forms of deformities have been diagnosed. Patient concerns: The negative impact of the disorder on the child and his family is enormous. Particularly when the diagnosis is late and little can be done. Though counselling the family through discussing the whole picture of the disorder might lessens their concern. Diagnoses: Diagnosis is the corner stone of management. In this paper we aimed to sensitize pediatricians, physicians, and orthopedic surgeons concerning the necessity to recognize syndromic associations early on. Interventions: Patients with syndromic craniosynostosis are usually associated with a complexity of malformation complex. Craniofacial surgery can be of remarkable help if the diagnosis is made early. It requires a series of corrections to avoid intellectual disability and other neurological deficits. The timing of interventions is strongly correlated on the timing of diagnosis. Outcomes: The earliest the diagnoses, the much better the outcomes are. And consequently avert the psychological and the financial cost on the patient and his family. Lessons: The golden principle of medicine should prevail in all medical disciplines, which states: The more you see, the more you know and conversely the more you know is the more you see.

We investigated the detailed anatomy of the gluteus maximus, gluteus medius and gluteus minimus and their neurovascular supply in 22 hips in 11 embalmed adult Caucasian human cadavers. This led to the development of a surgical technique for an extended posterior approach to the hip and pelvis that exposes the supra-acetabular ilium and preserves the glutei during revision hip surgery. Proximal to distal mobilisation of the gluteus medius from the posterior gluteal line permits exposure and mobilisation of the superior gluteal neurovascular bundle between the sciatic notch and the entrance to the gluteus medius, enabling a wider exposure of the supra-acetabular ilium. This technique was subsequently used in nine patients undergoing revision total hip replacement involving the reconstruction of nine Paprosky 3B acetabular defects, five of which had pelvic discontinuity. Intra-operative electromyography showed that the innervation of the gluteal muscles was not affected by surgery. Clinical follow-up demonstrated good hip abduction function in all patients. These results were compared with those of a matched cohort treated through a Kocher–Langenbeck approach. Our modified approach maximises the exposure of the ilium above the sciatic notch while protecting the gluteal muscles and their neurovascular bundle. Cite this article: Bone Joint J 2014;96-B:48–53.

Objective: To further investigate the underlying pathology of axial and appendicular skeletal abnormalities such as painful spine stiffness, gait abnormalities, early onset osteoarthritis and patellar instability in patients with Stickler syndrome type I. Radiographic and tomographic analyses were organized. Methods: From a series of Stickler syndrome patients followed from early life to late childhood. Ten patients (6 boys and four girls of different ethnic origins were consistent with the diagnosis of Stickler syndrome type I ). Phenotypic characterization was the baseline tool applied for all patients and genotypic correlation was performed on four families Results: A constellation of axial abnormalities namely; anterolateral ossification of the anterior longitudinal spinal ligament with subsequent fusion of two cervical vertebrae, early onset Forestier disease (progressive spinal hyperostosis with subsequent vertebral fusion on top of bridging osteophytes and “Bamboo-like spine” resembling ankylosing spondylitis) and severe premature spine degeneration were evident. Appendicular abnormalities in connection with generalized epiphyseal dysplasia were the underlying aetiology in patients with Intoeing gait and femoral anteversion, early onset severe osteoarthritis of the weight bearing joint. Remarkable trochleo-patellar dysplasia secondary to severe osteoarthritis causing effectively the development of patellar instability was additional pathology. Mutation of COL2A1 has been confirmed as the causative gene for Stickler syndrome type I Conclusion: We concluded that conventional radiographs and the molecular determination of a COL2A1 in patients with (Stickler syndrome type I) are insufficient tools to explain the reasons behind the tremendous magnitude of axial and appendicular skeletal abnormalities. We were able to modify the criteria of the clinical phenotype as designated by Rose et al in accordance with the novel axial and appendicular criteria as emerged from within our current study.

Introduction The goal of this in vitro validation study was to investigate the feasibility of biochemical MRI techniques, such as sodium imaging, T 2 mapping, fast imaging with steady state precession (FISP), and reversed FISP (PSIF), as potential markers for collagen, glycosaminoglycan and water content in the Achilles tendon. Materials and methods Five fresh cadaver ankles acquired from a local anatomy department were used in the study. To acquire a sodium signal from the Achilles tendon, a 3D-gradient-echo sequence, optimized for sodium imaging, was used with TE = 7.71 ms and TR = 17 ms. The T 2 relaxation times were obtained using a multi-echo, spin-echo technique with a repetition time (TR) of 1200 ms and six echo times. A 3D, partially balanced, steady-state gradient echo pulse sequence was used to acquire FISP and PSIF images, with TR/TE = 6.96/2.46 ms. MRI parameters were correlated with each other, as well as with histologically assessed glycosaminoglycan and water content in cadaver Achilles tendons. Results The highest relevant Pearson correlation coefficient was found between sodium SNR and glycosaminoglycan content ( r = 0.71, p = 0.007). Relatively high correlation was found between the PSIF signal and T 2 values ( r = 0.51, p = 0.036), and between the FISP signal and T 2 values ( r = 0.56, p = 0.047). Other correlations were found to be below the moderate level. Conclusion This study demonstrated the feasibility of progressive biochemical MRI methods for the imaging of the AT. A GAG-specific, contrast-free method (sodium imaging), as well as collagen- and water-sensitive methods ( T 2 mapping, FISP, PSIF), may be used in fast-relaxing tissues, such as tendons, in reasonable scan times.

Background: We studied an unusual combination of severe short stature, mesomelia (Leri-Weill dyschondrosteosis syndrome), and multiple exostosis in several family subjects over three generations. The pattern of inheritance was compatible with autosomal dominant. Methods: Of 21 affected members over three generations, shortness of stature, associated with mesomelia resembling Leri-Weill dyschondrosteosis syndrome with no exostoses was evident in three family subjects. The rest of the family subjects manifested with normal height, and yet multiple exostoses. In this family, the skeletal manifestations were sufficiently variable for the presentation to be with either short stature or scoliosis, a Madelung’ deformity, or with severe hallux valgus associated with exostosis and with Leri-Weill dyschondrosteosis syndrome. Results: Subjects with structural chromosomal aberrations of the proband IV-7, who manifested with normal height but with multiple exostoses were excluded via 20 CAG-banded mitoses (there were no microdeletions or microduplication after performing Array-CGH-analysis). In addition, DNA examination for subject IV-8 (male cousin of the proband showed short stature and Leri-Weill dyschondrosteosis syndrome) revealed no evidence of SHOX deletions. Conclusion: We described a multigenerational non-consanguineous North African family , in which mesomelic dysplasia, whose clinical and radiological phenotypes resembled dyschondrosteosis, was a prominent feature in three family subjects. Multiple exostoses were evident in several other family subjects (most were with normal height). We would like to emphasize the variability in the phenotypic expression of multiple exostosis, especially the confusion that might arise when the condition appears both clinically and radiologically to be more complicated, and the overall picture might then be overlapped with one of the other bone dysplasias such as Leri-Weill dyschondrosteosis syndrome. J Clin Med Res. 2016;8(8):605-609 doi: http://dx.doi.org/10.14740/jocmr2593w

Little is known whether trabecular bone matrix mineralization is altered at the site of osteoporotic vertebral fractures. Bone mineralization density distribution (BMDD) was assessed in trabecular bone of acute, single-level compression fractures of the spine at various stages of fracture repair using quantitative backscattered electron imaging (qBEI). The grading of the repair stage was performed by histological methods. From 20 patients, who underwent either kyphoplasty (n = 18) or vertebroplasty (n = 2), a vertebral bone biopsy was taken prior to cement augmentation. Six patients took bisphosphonates (BP) prior to fracture. Three study groups were formed: N1 = early-, N2 = late-healing and B = BP treatment at late healing stage. In general, all groups had an altered BMDD when compared to historical normative reference data. Mean matrix mineralization (CaMean) was significantly (p

To investigate the feasibility of sodium magnetic resonance (MR) imaging in the diagnosis of Achilles tendinopathy.Institutional review board approval and written informed consent were obtained. Twenty healthy volunteers and eight patients with Achilles tendinopathy were examined by using a 7-T whole-body MR imager with a 15-channel sodium knee coil. The sodium signal-to-noise ratio (SNR) from each region, as well as from the whole Achilles tendon, was compared between patients and healthy control subjects. The changes in SNR were assessed with a two-tailed unpaired t test in three regions of the Achilles tendon: the insertion area, the middle portion, and the muscle-tendon junction. P values less than .05 were considered to indicate a statistically significant difference. To validate a relationship between the sodium SNR and the glycosaminoglycan content in tendon, five cadaver ankles were examined with MR imaging and immunohistologically. The Pearson correlation coefficient between sodium SNR and glycosaminoglycan content was calculated.Significant differences (P.05) in the mean sodium SNR of healthy control subjects (mean SNR, 4.9 ± 2.1 [standard deviation]) and patients with chronic Achilles tendinopathy (mean SNR, 9.3 ± 2.3) were observed. Similar results were found at the insertion (mean SNR in control subjects, 6.7 ± 2.3; mean SNR in patients, 12.3 ± 4.5; P.05) and the midportion (mean SNR in control subjects, 5.1 ± 1.9; mean SNR in patients, 9.4 ± 3.0; P.05) of the Achilles tendon. At the muscle-tendon junction, the sodium SNR difference between control subjects and patients was small but still bellow the significance level (P = .0137). The increase in sodium SNR was observed in all regions independently of the location of morphologic findings. The Pearson correlation coefficient between sodium SNR and glycosaminoglycan content was 0.71.Sodium MR imaging may allow detection of the proteoglycan content increase in Achilles tendinopathy and thus identify the biochemical changes in the early stages of tendinopathy.

Craniodiaphyseal dysplasia is a severe disorder characterized by distinctive facial dysmorphisms, including prominent zygomatic bones, broadening of the center of the face, hypertelorism, a small upturned tip of the nose and massive hyperostosis and sclerosis of the skull and facial bones. The sclerosis is severe and is referred to as “leontiasis ossea” (leonine faces), and the bone deposition causes progressive stenosis of the craniofacial foramina (1-5). The skull and facial hyperostosis result in an increasing head circumference, paranasal bossing, nasal bridge distortion and an alteration in the orbital alignment. Radiographic features consist of osteosclerosis and hyperostosis of the skull and facial bones and, to a lesser degree, the diaphyses of the tubular bones. There is often secondary optic atrophy and deafness, and epilepsy and mental retardation have both been reported (6,7). Familial osteoectasia with macrocranium and hyperphosphatasia are features encountered in juvenile Paget's disease (juvenile deforming cortical hyperostosis) (7). Genotypical diseases of familial osteoectasia are characterized by Cushingoid facies, limb deformities (from generalized osteoporosis) and retarded growth (8,9).

Ankle arthrodesis (AAD) and total ankle replacement (TAR) are the major surgical treatment options for severe ankle arthritis. There is an ongoing discussion in the orthopaedic community whether ankle arthrodesis or ankle fusion should be the treatment of choice for end stage osteoarthritis. The purpose of this study was to compare the participation in sports and recreational activities in patients who underwent either AAD or TAR for end-stage osteoarthritis of the ankle.A total of 41 patients (21 ankle arthrodesis /20 TAR) were examined at 34.5 (SD18.0) months after surgery. At follow-up, pre- and postoperative participation in sports and recreational activities has been assessed. Activity levels were determined using the ankle activity score according to Halasi et al. and the University of California at Los Angeles (UCLA) activity scale. Clinical and functional outcome was assessed using the American Orthopaedic Foot and Ankle Society (AOFAS) hindfoot score. The percentage of patients participating in sports and recreational activities, UCLA score and AOFAS score were compared between both treatment groups.In the AAD group 86% were active in sports preoperatively and in the TAR group this number was 76%. Postoperatively in both groups 76% were active in sports (AAD, p = 0.08). The UCLA score was 7.0 (± 1.9) in the AAD group and 6.8 (± 1.8) in the TAR group (p = 0.78). The AOFAS score reached 75.6 (± 14) in the AAD group and 75.6 (± 16) in the TAR group (p = 0.97). The ankle activity score decrease was statistically significant for both groups (p = 0.047).Our study revealed no significant difference between the groups concerning activity levels, participation in sports activities, UCLA and AOFAS score. After AAD the number of patients participating in sports decreased. However, this change was not statistically significant.

Epidemiological studies show that arterial hypertension is associated with bone loss and an increased risk of fractures. Bone material properties are essential for bone strength. However, little is known about the effects of hypertension on bone matrix mineralization. Genetic animal models of hypertension are not ideal for studying bone matrix properties since these mutations may affect mineralization per se. The purpose of this study was to evaluate the effects of short-term hypertension on bone mineral density distribution (BMDD) using quantitative backscattered electron imaging in the proximal humerus in an established surgical model of pressure-overload cardiac hypertrophy in immature rabbits. Banding of the descending aorta was performed in 10-day-old rabbits (n = 4). Systolic blood pressure was elevated at all timepoints in the upper extremity but reached statistical significance at 5 and 6 weeks of age (+30.1% and +25.1 mm Hg; P < 0.05 each, respectively). Diastolic blood pressure was not affected. The left proximal humerus was harvested at 6 weeks of age, which is the maximum time in this animal model. Four non-operated, matched animals served as controls. Bone mineral density distribution parameters were determined in the epiphyseal and metaphyseal regions of the proximal humerus. The bone mineral density distribution parameters which describe the degree and heterogeneity of mineralization as well as the amount of low mineralized matrix showed no significant differences. Moreover no difference in bone length was found. Our study indicates that short-term elevation of blood pressure has no effects on bone matrix mineralization in this surgical model of pressure-overload cardiac hypertrophy in immature rabbits.

The Western Ontario shoulder instability index (WOSI) is a disease-specific quality of life measurement tool with 21 items for patients with shoulder instability. Here, we report on translation and validation of the German version of the WOSI according to international guidelines. A total of 86 patients in three groups were included in this study. In group I, 24 patients underwent surgical stabilization of the shoulder. Preoperatively and at 12 months post-operatively the WOSI, Rowe score, UCLA, Constant score, and the SF-36 were evaluated. In group II, 25 patients were evaluated 2.6 ± 1.2 years after sustaining a primary traumatic shoulder dislocation. Group III consisted of 37 healthy men and women with normal, healthy shoulders. Evaluation of Pearson’s correlation coefficient between WOSI and Rowe score, UCLA, SF-36 and Constant score and for test–retest reliability was made. Moreover, Cronbach’s alpha and floor, and ceiling effects were analyzed. Internal consistency was high (Cronbach’s alpha 0.92).Test–retest reliability (Pearson correlation coefficient) was excellent (r = 0.92). The construct validity showed a significant correlation between the WOSI and the scores investigated. There were no floor or ceiling effects for the German WOSI score. The German translation of the WOSI is a valid and reliable tool, applicable to outcome studies on patients with shoulder instability.

Fifty-six years after the introduction of Chiari's pelvic osteotomy, we report the long-term function scores and radiographic grade of osteoarthritis in 66 patients with 80 pelvic osteotomies with a minimum followup time of 27 years (average, 32 years; range, 27-48 years). These 66 patients were those who could be contacted and who returned for a followup visit from among 450 patients operated between 1961 and 1981. Thirty-two hips (40%) in 28 patients had undergone a total joint arthroplasty after an average 26 years (range, 13-41 years). Forty-eight hips in 41 patients (60%) were not replaced, their Harris hip score being a median of 82 points (range, 37-100 points). For the 22 patients for whom we had complete radiographs the average preoperative CE angle was 11.6 degrees, 48.6 degrees (range, 31 degrees-82.8 degrees) immediately postoperatively, and 41.6 degrees (range, 13.7 degrees-90 degrees) at last followup . Despite a functional hip score in most patients retaining their native hip, the degree of osteoarthritis progressed at last followup. We observed a similar mean age at the time of osteotomy in patients converted to total hip arthroplasty and those retaining their native hip. Age at time of surgery was inversely correlated (r = -0.78) with the interval between the osteotomy and THA. In this select patient group we found good functional outcome in patients who underwent Chiari pelvic osteotomy, with a conversion rate of 40% to total hip arthroplasty a mean of 32 years after the procedure.Level IV, case series. See Guidelines for Authors for a complete description of levels of evidence.

BACKGROUND: The modified Ludloff proximal first metatarsal osteotomy is indicated for the surgical correction of moderate-to-severe hallux valgus deformity associated with metatarsus primus varus. We report the intermediate-term results of this procedure. METHODS: Ninety-nine patients (111 feet) with a mean age of fifty-six years underwent a modified Ludloff proximal first metatarsal osteotomy and a distal soft-tissue procedure at two institutions for the treatment of a moderate-to-severe hallux valgus deformity. The American Orthopaedic Foot and Ankle Society score and weight-bearing radiographs of the foot were assessed preoperatively and after a mean duration of follow-up of thirty-four months. Clinical and radiographic outcome was also compared between younger and older patients, with the arbitrarily chosen age of sixty years dividing the two groups. RESULTS: The mean American Orthopaedic Foot and Ankle Society score improved significantly (p < 0.0001) from 53 points preoperatively to 88 points at the time of the most recent follow-up. The mean American Orthopaedic Foot and Ankle Society score for patients who were sixty years of age or less was significantly higher than that for patients who were more than sixty years of age (91 compared with 83 points; p = 0.0057). The mean hallux valgus angle decreased significantly from 35° preoperatively to 9° at the time of the most recent follow-up (p < 0.0001), and the mean intermetatarsal angle decreased significantly from 17° to 8° (p < 0.0001). All osteotomy sites united without dorsiflexion malunion but with a mean first metatarsal shortening of 2.2 mm. CONCLUSIONS: To our knowledge, the present report describes the largest cohort of patients undergoing a modified Ludloff osteotomy for the correction of hallux valgus deformity that has been reported in the literature. Our intermediate-term results demonstrate that the procedure achieves significant correction of moderate-to-severe hallux valgus deformity, significant reduction in forefoot pain, and significant improvement in functional outcome. Patients with an age of sixty years or less appear to have a more favorable outcome. LEVEL OF EVIDENCE: Therapeutic Level IV. See Instructions to Authors for a complete description of levels of evidence.

Long-term effects of risedronate on bone mineralization density distribution in triple transiliac crest biopsies of osteoporotic women were evaluated. In this double-blinded study, 3- and 5-year treatment with risedronate increased the degree and homogeneity of mineralization without producing hypermineralization. These changes at the material level of bone could contribute to risedronate's antifracture efficacy. Introduction: Risedronate, a nitrogen-containing bisphosphonate, is widely used in the treatment of osteoporosis. It reduces bone turnover, increases BMD, and decreases fracture risk. To date, there are no data available on the long-term effects of risedronate on bone mineralization density distribution (BMDD) in humans. Materials and Methods: Osteoporotic women enrolled in the VERT-NA trial received either risedronate (5 mg/day, orally) or placebo for up to 5 years. All subjects received calcium and vitamin D supplementation if deficient at baseline. Triple iliac crest biopsies were collected from a subset of these subjects at baseline and 3 and 5 years. BMDD was measured in these biopsies using quantitative backscattered electron imaging, and the data were also compared with a normal reference group. Results: At baseline, both risedronate and placebo groups had a lower degree and a greater heterogeneity of mineralization as well as an increase in low mineralized bone compared with the normal reference group. The degree of mineralization increased significantly in the risedronate as well as in the placebo group after 3- and 5-year treatment compared with baseline. However, the degree of mineralization did not exceed that of normal. Three-year treatment with risedronate significantly increased the homogeneity of mineralization and slightly decreased low mineralized bone compared with placebo. Surprisingly with 5-year risedronate treatment, heterogeneity of mineralization increased compared with 3-year treatment, which might indicate an increase in newly formed bone. Conclusions: Long-term treatment with risedronate affects the homogeneity and degree of mineralization without inducing hypermineralization of the bone matrix. These changes at the material level of the bone matrix may contribute to risedronate's antifracture efficacy in osteoporotic patients.

Rationale: The term idiopathic osteoporosis itself is quite a non-specific disease label, which fails to address the etiological understanding. Bone mineral density alone is not a reliable parameter to detect patients at high risk of fracture. The diversity of the clinical phenotypes of discolored teeth, blueness of the sclera, back and joint pain, cardiovascular disease, Diabetes type II, hearing problems and a long list of orthopedic problems are have to be considered. Patients concerns: Our study has been designed in accordance with the clinical and radiological phenotype of eleven index cases with the provisional diagnosis of OI, which was followed by genotypic confirmation. This was followed by the invitation of siblings, parents, grandparents and other relatives to participate in the interviews, and to discuss the impact of the diagnosis. Proper collaboration with these families facilitated the process to identify other subjects with a history of fractures and other deformities/disabilities which were seemingly correlated to heritable connective tissue disorder. In total, 63 patients (27 children and 36 parents/grandparents and relatives) were enrolled in the study. Two groups of children were not included in our study. We excluded children with incomplete documentation and children who manifested de novo mutation. The term idiopathic osteoporosis (IOP) has been given to these families in other Institutes and was considered as a definite diagnosis. IOP was solely based on T scores, BMD and certain laboratory tests. Surprisingly, no single adult patient underwent clinical and or radiological phenotypic characterization. Diagnoses: A constellation of significant disease associations with osteoporotic fracture risk have been encountered. The index cases showed mutations in COL1A1 (17q21.31.q22) and COL1A2 (7q22.1), the genes encoding collagen type I. The phenotype/genotype confirmation in 11 children was the key factor to boost our research and to re-consult each family. Comprehensive clinical and radiological phenotypic documentation has been applied to most of other family subjects who principally received the diagnosis of IOP. Interventions: All adult patients had normal serum calcium and only three patients showed an average of low serum phosphate of 0.7–0.61 mmol/l. Serumcrosslaps in six parents was in the average of (2.9–3.8 nM) and PTH levels were normal in all patients (the average showed 8.73 pg/ml). Outcomes: Our efforts to minimize and constrain the usage of the term idiopathic osteoporosis and to understand the sequence of pathological events that occurred in these families were emphasized. These efforts evolved into a remarkable and unique constellation of clinical findings. Strikingly, fracture represented a portion in a series of skeletal and extra-skeletal deformities and abnormalities which are all correlated to connective tissue disorder. This was achieved mainly through comprehensive phenotype/genotype confirmation, followed by scrutinizing the records of each family, clinical examination of the adults and revising the archives of our Hospitals and other Institutes. Lessons: The sequence of diverse pathological events recorded within each family would be almost incomprehensible without a proper etiological understanding of the natural history of each child/family deformity that led to their occurrences. We wish to stress that, our current study is just an attempt to cover only a tiny fraction of the tip of the iceberg and to profoundly explore one of the most under-estimated causes of idiopathic osteoporosis.

Primary bone or soft tissue tumors of the femur sometimes present with severe and extensive bone destruction, leaving few limb-salvage options other than total femur replacement. However, there are few data available regarding total femur replacement and, in particular, regarding implant failures.We asked: (1) What are the revision-free and overall implant survival rates of conventional total femur replacements in patients treated for sarcoma of the femur or soft tissues? (2) What are the revision-free and overall implant survival rates of expandable total femur replacements in skeletally immature patients? (3) Using the comprehensive International Society of Limb Salvage failure-mode classification, what types of complications occur with conventional and expandable total femur replacements?Our retrospective, single-center cohort study was based on data prospectively collected for 50 patients who received a total femur replacement after tumor resection for indications other than carcinoma or metastatic disease. Of the 50 patients, six (12%) were lost to followup before 6 months. Ten of the remaining 44 patients received expandable implants. The mean followup was 57 months (range, 1-280 months) and 172 months (range, 43-289 months) for patients who underwent conventional and expandable total femur replacements, respectively. For implant survival, competing risk analyses were used.At 5 years, revision-free implant survival of conventional total femur replacements was 48% (95% CI, 0.37-0.73), and overall implant survival was 97% (95% CI, 0.004-0.20). Five-year revision-free implant survival of expandable total femur replacements was 30% (95% CI, 0.47-1.00) and overall implant survival was 100%. With conventional total femur replacements soft tissue failures occurred in 13 of 34 patients, structural failures in three, infection in six, and local tumor progression in one. No patient had aseptic loosening with conventional total femur replacements, but hip disarticulation occurred in two patients owing to extensive wound-healing problems and infection. With expandable total femur replacements soft tissue failure, aseptic loosening, and infection occurred in one patient each of 10, and structural failures in three of 10 (two periprosthetic fractures, one loosening of an enhanced tendon anchor). No hip disarticulations were performed. Additionally expandable total femur replacement-related failures included hip instability in eight of 10 patients, contractures attributable to massive scar tissue in six, and defect of the implant's expansion mechanism in four patients.Although the indications for total femoral resection are rare, we think that total femur replacement is a reasonable treatment option for reconstruction of massive femoral bone defects after tumor resection in adults and skeletally immature patients, and results in limb salvage in most patients.Level IV, therapeutic study.

Little data is available about the incidence and especially the management of hip dislocation following the implantation of modular tumor prostheses of the proximal femur. In this retrospective single-centre study we assessed the incidence of hip dislocation following implantation of a proximal femoral modular prosthesis as well as the success of the subsequent surgical or non-surgical treatment in tumor patients.Between 1982 and 2008, 166 tumor patients received a modular prosthesis of the proximal femur at our institution. The average age at the time of surgery was 50 ± 20 years (range, six to 84 years). An additional pelvic reconstruction was done in 14 patients. An artificial band for soft tissue reconstruction of the hip was used in 19 patients. The average time of follow-up was 46 ± 64 months (range, one to 277 months).The overall dislocation rate after proximal femoral replacement was 13% after a mean time of seven ± eight months (range, 0.3-33 months) after surgery. Between 1982 and 1986 the dislocation rate was 33% and declined to 9% in subsequent years (1987-2008). Patients who had received an additional pelvic reconstruction had a three fold higher dislocation rate (p0.05). Patients with closed reduction had a 58% (eight of 12) re-dislocation rate compared to 11% (one of nine) for open reduction (p = 0.0357).Dislocation of a modular prosthesis of the proximal femur is a common complication, especially in cases with additional pelvic resection with extensive bone and soft-tissue defects. Open surgical management may be more effective in preventing re-dislocation than closed reduction and bracing alone.

Limb salvage surgery has evolved to become the standard method of treating sarcomas of the extremities with acceptable oncologic results. However, little information exists relative to the activity level or ability to participate in sports after tumor reconstructions.The aims of the study were to answer the following questions: (1) Which sports activity levels and what types of sports can be expected in the long term after tumor reconstruction? (2) Which frequency durations are patients with Ewing's sarcoma able to perform in long-term followup after local control? (3) Do surgical complications affect sports activity level?Thirty patients (13 females, 17 males; mean age, 18 ± 8 years; range, 2-36 years at diagnosis; mean followup 16 ± 6 years [minimum, 5 years]) were included. Tumors were located in the pelvis, femur, tibia, and fibula. Surgical procedures included surgical resections alone (n = 8), surgical resection with biological reconstruction (n = 9), or endoprosthetic reconstruction (n = 13). We assessed UCLA sports activity levels, kinds of sports as well as the frequency per week and the duration of each training unit at long term (minimum followup, 5 years).In long-term followup 83% patients (25 of 30) were performing athletic activity regularly. The hours/week of sports depended on type of surgery and were highest after resections in the pelvis and femur (5.8) and were lowest after megaprosthetic reconstruction of the pelvis (1.0). Patients undergoing biologic reconstructions were able to perform high-impact sports. UCLA sports activity levels were high after joint-preserving vascularized fibula for tibia reconstruction (7.4) and after megaprosthetic reconstruction of the lower extremity (6.3-6.4) and were low after tumors located in the fibula (4.2). Complications during followup did not significantly influence sports activity in long-term survivors.Long-term survivors can achieve high levels of sports activity in many instances. Tumor sites are associated with the postoperative sports activity levels. This information can help surgeons counsel patients in terms of athletic expectations after limb salvage reconstruction for patients with Ewing's sarcoma.Level III, therapeutic study. See Guidelines for Authors for a complete description of levels of evidence.

The proximal chevron osteotomy provides high correctional power. However, relatively high rates of dorsiflexion malunion of up to 17 % are reported for this procedure. This leads to insufficient weight bearing of the first ray and therefore to metatarsalgia. Recent biomechanical and clinical studies pointed out the importance of rigid fixation of proximal metatarsal osteotomies. Therefore, the aim of the present study was to compare biomechanical properties of fixation of proximal chevron osteotomies with variable locking plate and cancellous screw respectively.Ten matched pairs of human fresh frozen cadaveric first metatarsals underwent proximal chevron osteotomy with either variable locking plate or cancellous screw fixation after obtaining bone mineral density. Biomechanical testing included repetitive plantar to dorsal loading from 0 to 31 N with the 858 Mini Bionix(®) (MTS(®) Systems Corporation, Eden Prairie, MN, USA). Dorsal angulation of the distal fragment was recorded.The variable locking plate construct reveals statistically superior results in terms of bending stiffness and dorsal angulation compared to the cancellous screw construct. There was a statistically significant correlation between bone mineral density and maximum tolerated load until construct failure occurred for the screw construct (r = 0.640, p = 0.406).The results of the present study indicate that variable locking plate fixation shows superior biomechanical results to cancellous screw fixation for proximal chevron osteotomy. Additionally, screw construct failure was related to levels of low bone mineral density. Based on the results of the present study we recommend variable locking plate fixation for proximal chevron osteotomy, especially in osteoporotic bone.

Background: Instability of the second metatarsophalageal (MTP) joint is a common disorder of the forefoot and can be addressed operatively. The objective of this study was to compare a temporary K-wire fixation (tKW) to a postoperative strapping dressing (SD) after realignment surgery of second MTP instability in combination with correction of claw toe deformity. Methods: Fifty-four consecutive patients with metatarsal index plus or neutral and a collective total of 62 operative interventions were examined at 10 years postoperatively. The operative intervention included dorsal capsulotomy, incision of the extensor hood, and lengthening of the extensor tendon. All operations were carried out at a single institution by orthopedic surgeons experienced in foot surgery. One team preferred fixation with tKW, whereas the other team used only noninvasive SD for postoperative management. The assessment included the American Orthopaedic Foot & Ankle Society (AOFAS) metatarsophalangeal-interphalangeal score as well as the visual analogue scale (VAS) for pain. Kaplan Meier analysis with recurrence of subluxation as the end point was performed, and plain radiographs of the forefoot were investigated. Results: Survival without recurrence of second MTP subluxation was significantly higher in the tKW group (93%) compared with the SD group (88%) ( P < .001). There was no statistical significant difference in pre- to postoperative AOFAS and VAS pain between the 2 groups. Conclusion: Temporary K-wire fixation had a significantly lower recurrence rate of second MTP subluxation compared with postoperative SD for postoperative alignment management in second MTP instability. Level of Evidence: Level III, therapeutic study.

PurposeCleidocranial dysplasia is an autosomal dominant disorder characterized by defective ossification of the intramembraneous ossification (primarily the clavicles, cranium, and pelvis), and it is caused by mutations in the RUNX2 gene that is responsible for osteoblast differentiation. Spine deformities were of progressive nature and considered to be the major orthopedic abnormalities encountered in our practice in patients with cleidocranial dysplasia. We aimed to further delineate the underlying spine pathology and its etiological understanding. Extraspinal deformities were dealt with respectively.Material and MethodsIn this paper, we describe 7 patients who were consistent with the phenotypic and the genotypic characterization of cleidocranial dysplasia. Reformatted computed tomography (CT) scans have been applied in several instances to further understand the underlying pathology of progressive spine tilting. Radiographs were sufficient to illustrate other skeletal malformations.ResultsAnatomical survey demonstrates that a broad spectrum of frequently unrecognized orthopedic aberrations were encountered. We believe that torticollis has evolved in connection with the persistence of synchondrosis of the skull base and the upper cervical spine and these are strongly correlated to the well-known pathology of posterior occipital synchondrosis. Similarly, scoliosis and kyphoscoliosis resulted from the pathologic aberration of the cartilaginous stage of disrupted embryological development. All our results are discussed for the first time. Coxa vara, patellar dysplasia, and genu valgum were observed as extraspinal deformities.ConclusionThis paper includes for the first time the anatomical analysis of the malformation complex of the craniocervical and the entire spine in patients with cleidocranial dysplasia. Reformatted CT scan was the modality of choice. We were able to illustrate that the persistence of skull base and the cervical spine synchondrosis were correlated with the pathological mechanism of the posterior occipital synchondrosis. Therefore, injuries to the craniocervical region in these patients might lead to a wide range of dreadful complications, ranging from complete atlanto-occipital or atlanto-axial dislocation to nondisplaced occipital condyle avulsion fractures with the possibility of morbid and or mortal outcome. On the other hand, the persistence of a cartilaginous spine was the reason behind the progressive spine tilting. This pathological form can be considered as a notoriously unpredictable malformation complex. The value of presenting these patients is to demonsterate that the genotype is not a precise index to assess the severity and the natural history of the phenotype.

Introduction A 13-year-old child was clinically diagnosed with mucopolysaccharidosis type VI-Maroteaux-Lamy syndrome (MPS VI) at the age of 5 years, and the diagnosis was confirmed biochemically and genetically (homozygous mutation in ARSB gene). At that time, his older brother manifested with increasing severe mental retardation. His urinary glycosaminoglycan excretion in urine was elevated, but there was only 1 mutation in the ARSB gene defining him as a healthy carrier of MPS VI. The 15-year-old boy was born with dysmorphic facial features, cleft lip and palate, and multiple contractures associated with profound skeletal deformities manifested, severe mental retardation, and seizures, leading to the diagnosis of cerebral palsy from birth on.Clinical and radiographic phenotypic characterization was the baseline tool to document the older sibling, parents, and relatives, all of them examined at the Orthopaedic Hospital of Speising, Vienna, Austria. The family history (from maternal and paternal sides) showed >10 subjects with variable clinical histories of hyperactivity and attention deficit disorder, depression, and a diversity of skeletal abnormalities, such as dysplastic spondylolisthesis, discovertebral degeneration, osteopenia, osteophytosis, and progressive degeneration of the weight bearing zones (mostly developed at middle age). Methods Eleven patients in a family with interrelated marriages (two male siblings of 15 and 13-year-old), parents and relatives over three generations were enrolled. One of the siblings was diagnosed with Maroteaux-Lamy syndrome at the age of five-years and mutation of the ARBS gene has been encountered. The older sibling manifested at birth craniofacial abnormalities associated with multiple contracture and seizures. Cerebral palsy was the suggested diagnosis. Clinical and radiographic phenotypes were the baseline tool to document the older sibling, parents and relatives at the orthopaedic Hospital of Speising, Vienna, Austria. These were followed by whole Exome sequencing in three family subjects. Results A series of genetic studies in the older sibling showed homozygous mutation in GNS gene compatible with MPS IIID. Both parents are first related and were found to be heterozygous for N-acetylglucosamine-6-sulfatase GNS gene. Family history showed more than 10 subjects with variable clinical presentations such as dysplastic spondylolisthesis, disco-vertebral degeneration, osteopenia, osteophytosis, and progressive degeneration of the weight bearing zones (mostly developed at middle age). Conclusion Owing to the multiple systemic involvements, a genetic cause was suspected and a molecular genetic investigation by using whole-exome-sequencing method in 3 family subjects (trios) was performed: the 15-year-old boy and his parents. A homozygous splice-site-mutation in the GNS gene could be found, compatible with mucopolysaccharidosis-Sanfillipo syndrome (type IIID). Both parents are first related and were now found also to be heterozygous for the GNS gene mutation found in their older son. Therefore, both parents are heterozygous carriers for the ARSB gene mutation but also the GNS gene mutation. In the son with MPS VI, no mutation in the GNS gene was found, but the brother with MPS IIID was heterozygous for the ARSB gene mutation.We presume that the intrafamilial variability of clinical signs in different family members could be the result of various mutations in the ARSB/GNS genes in the carriers or potential modulating effects of other genes or differences in genetic backgrounds.

Background: The skeletal changes in McCune-Albright disease are usually severe because of the polyostotic form of the disease. Trendelenberg gait and limited mobility are the most common presenting features. The constellation of Café-au lait spots and polyostotic bone involvement is commonly referred to as McCune-Albright′s syndrome (MAS). Materials and Methods: One boy and 4 girls (7-16 years) were sought in our departments from 1998 to 2012. Limb length discrepancy was the main clinical presentation. Repetitive micro-fractures caused the development of ′Shepherd crook′ deformity with pain were the main burden. Results: Because of the repetitive micro-fractures and the significant deformity that distorted the integrity of the long bones which were associated with pain. We referred to re-alignment valgus osteotomy with internal fixation to preserve proper alignment. Moreover, guided growth technique with 8-plates was performed in 1 case. Conclusion: Tendency to progressive unilateral lower limb deformity in patients with MAS is usually associated with thinning and expansion of the cortex and distortion of the normal lower limb integrity secondary to repetitive micro-fractures. The latter is a situation which warrants surgical treatment to re-align the deformity and to preserve function. Prophylactic intramedullary nailing via the application of locking nails to ensure stabilisation of the femoral neck was found to be effective. However, nevertheless, the mosaic nature of MAS means any cell, tissue and organ in any site of the body could be affected to varying degrees. The clinical manifestations are a diversity of the disorder ranging from mild clinical signs to severe life-threatening disease.

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.

Hip resurfacing arthroplasty has gained popularity for treating young and active patients who have arthritis. There are two major data sources for assessing outcome and revision rate after total joint arthroplasty: sample-based clinical trials and national arthroplasty registers. The purpose of this study was to evaluate the outcome of the Birmingham Hip Resurfacing (BHR) arthroplasty in terms of revision rate as reported in clinical studies and recorded by national arthroplasty registers.A comprehensive literature research was performed from English-language, peer-reviewed journals and annual reports from national joint arthroplasty registers worldwide. Only publications from MEDLINE-listed journals were included. The revision rate was used as the primary outcome parameter. In order to allow for direct comparison of different data sets, calculation was based on revisions per 100 observed component years. For statistical analysis, confidence intervals (CI) were calculated.A total of 18,708 implants, equivalent to 106,565 observed component years, were analysed in the follow-up studies. The register reports contained 9,806 primary cases corresponding to 44,294 observed component years. Statistical analysis revealed a significant difference in revisions per 100 observed component years between the development team (0.27; CI: 0.14-0.40) and register data (0.74; CI: 0.72-0.76).The BHR arthroplasty device shows good results in terms of revision rate in register data as well as in clinical studies. However, the excellent results reported by the development team are not reproducible by other surgeons. Based on the results of our study, we believe that comprehensive national arthroplasty registers are the most suitable tool for assessing hip arthroplasty revision rate.

The aim of the article is fourfold; firstly, to detect the aetiology of torticollis in patients with Mullerian duct/renal aplasia-cervicothoracic somite dysplasia syndrome; secondly, spine pathology in Mullerian duct/renal aplasia-cervicothoracic somite dysplasia syndrome varies considerably from one patient to another and there are remarkable differences in severity and localization; thirdly, mismanagement of congenital spine pathology is a frequent cause of morbid/fatal outcome; and fourthly, the application of prophylactic surgical treatment to balance the growth of the spine at an early stage is mandatory. Reformatted CT scans helped in exploring the craniocervical and the entire spine in these patients. The reason behind torticollis ranged between aplasia of the posterior arch of the atlas, assimilation of the atlas and extensive fusion of the lower cervical vertebrae (bilateral failure of segmentation) in four patients; in one patient, in addition to the hypoplastic posterior arch of the atlas, we observed ossification of the anterior and the posterior longitudinal spinal ligaments giving rise to a block vertebrae-like suggestive of early senile ankylosing vertebral hyperostosis (Forestier disease). Scoliosis at different spine levels was attributable to variable spine defects. Pelvic ultrasound showed the classical renal agenesis in four patients; whereas in one patient, the MRI showed pelvic cake kidney (renal fused ectopia) associated with ovarian, uterine and vaginal abnormalities. This is the first exploratory study on the craniocervical and the entire spine in a group of patients with MURCS association.

In a retrospective single-centre study 170 consecutive patients were included who received a Kotz modular prosthesis after resection of bone tumours of the proximal femur to evaluate the management of prosthetic infection. Infection occurred in 12 of 166 patients available for follow-up (six males; six females; mean age, 47 years; range, ten to 75 years) after a mean of 39 months (range, one to 166 months; infection rate, 7.2%). Mean follow-up was 54 months (range, four to 200 months). One patient died of septic shock. Two patients were treated by wound revision only. Treatment of infection in the remaining patients was one-stage revision in eight and hip disarticulation in one. Infection control by one-stage revision was achieved in five of eight patients; re-infection occurred in three patients and was successfully treated by further revision in all of them. The overall success rate for controlling infection was 83.3%.

Bone matrix mineralisation plays a critical role in the determination of the overall biomechanical competence of bone. However, the molecular mechanisms of bone matrix mineralisation have not been fully elucidated. We used a proteomic approach to identify proteins and genes that may play a role in osteoblast matrix mineralisation. Proteomic differential display revealed a protein band that appeared only in mineralising mouse 7F2 osteoblasts. In-gel protein digestion and mass spectrometry proteomic analysis of this protein band identified 16 proteins. Furthermore, their corresponding transcripts were upregulated. This identification of proteins that may be associated with bone matrix mineralisation presents important new information toward a better understanding of the precise mechanisms of this process.

Introduction Arthrodesis is a well-established treatment option for end-stage osteoarthritis of the ankle. Osteoarthritis of the ankle can alter plantar pressure distribution. However, surprisingly little is known about the effect of ankle arthrodesis to alter plantar pressure distribution. The purpose of this study was to determine plantar pressure distribution in a selected group of patients with unilateral arthrodesis of the ankle joint. Methods 20 patients with an average age of 60 years who underwent isolated unilateral ankle arthrodesis using a 3-crossed screw technique by a single surgeon were included. After a mean of 25 months (range 12–75 months) post surgery plantar pressure distribution was determined in five regions of the foot. The outcome was evaluated clinically, using the American Orthopaedic Foot and Ankle Society hindfoot score, as well as radiographically. The contralateral normal foot was used as a control. Findings Comparing the foot that underwent tibiotalar arthrodesis to the contralateral normal foot, differences were found in the peak pressure and maximum force in the toe region and the lateral midfoot region. In addition, a decrease in the contact time in the forefoot region and a decrease of the contact area in the toe region of the operated foot were identified. The other regions did not show a significant difference. The mean American Orthopaedic Foot and Ankle Society score of the operated leg was 79 (range 46–92) at the last follow up, and the mean fixation angle of the arthrodesis on lateral weight bearing radiographs was 90° (range 86°–100°). Interpretation Our results indicate that arthrodesis of the ankle joint can provide high levels of function with minimal changes in the plantar pressure distribution.

Rett syndrome (RTT) is a common X-linked neurodevelopmental disorder caused by mutations in the coding region of methyl-CpG-binding 2 (MECP2) gene. Patients with RTT have a low bone mineral density and increased risk of fracture. However, very little is known if bone matrix mineralization is altered in RTT. A 17-year-old girl with a classical form of RTT with a heterozygous nonsense mutation in exon 3 in the MECP2-gene was treated in our hospital. Her femoral neck BMD is 43.3% below the 3rd percentile when compared to age and sex-matched controls. She underwent surgery for correction of her scoliosis, which provided a unique opportunity to obtain bone tissue to study bone matrix mineralization (Bone Mineralization Density Distribution-BMDD) using quantitative backscattered electron imaging (qBEI) and histomorphometry. BMDD outcomes were compared to recently published normative reference data for young individuals. qBEI analysis showed a significant shift to lower matrix mineralization despite histomorphometric indices indicate a low bone turnover. There was a reduction in CaMean (-7.92%) and CaPeak (-3.97%), which describe the degree of mineralization. Furthermore the fraction of low mineralized matrix (CaLow: +261.84%) was dramatically increased, which was accompanied with an increase in the heterogeneity of mineralization (CaWidth: +86.34%). Our findings show a significantly altered bone matrix mineralization of a typical patient with RTT. This may partly explain the low bone density seen in these patients. These results also warrant further studies on the molecular role of MECP2 in bone matrix mineralization.

The aim of this study was to prospectively evaluate our single-centre one- and five-year results of anatomically correct cementless total hip arthroplasty in unilateral and bilateral Crowe type IV high hip dislocations in ten hips following iliofemoral monotube soft tissue distraction. Six consecutive patients (five females and one male) with unilateral and two female patients with bilateral high hip dislocation with an average age of 46 years and height of dislocation up to 110 mm were treated in our institution. Limb lengthening was achieved up to 100 mm. The mean leg-length-discrepancy was −4 mm postoperatively. Harris hip score increased significantly at one year (p < 0.001) and significantly further (p < 0.05) at five years postoperative. WOMAC, VAS pain scale as well as gait and pain-free walking distance also improved significantly at follow-up. Two pin infections and one temporary peroneal nerve palsy occurred during monotube extension. Three cup protrusions that required revision surgery were observed in two patients. This study shows that iliofemoral distraction prior to total hip replacement achieves leg length equality and improved gluteal function and therefore gait in patients with Crowe type IV hip dislocation.

Despite the widespread use of bisphosphonates, its effects on normal bone microarchitecture of the proximal femur are still poorly studied. The purpose of this study was to determine the effects of long-term high-dose treatment of alendronate on microstructure and bone mineral density of cancellous, cortical compact and subchondral compact bone of the femoral head and neck region in normal adult male rabbits. Thirty-two adult, male rabbits were randomized into and were treated with either alendronate or placebo for 6 and 12 months. Micro-QCT measurements were taken in the (1) trabecular region, (2) cortical region of the femoral neck and (3) the subchondral region of the femoral head. In the trabecular region of the femoral head, alendronate treatment significantly increased vBMD at 6 and 12 months (+21.0%, p

Traditionally, it is believed that structural failure of the ischemic epiphysis as well as changes in radiodensity seen in the early stage of Legg-Calve-Perthes disease is due to the repair process. However, little is known if matrix properties are altered following ischemic injury of the juvenile femoral head. The purpose of this study was to determine the matrix mineralization density, an important determinant of material quality and strength, of the proximal femoral epiphysis in an experimental animal model of Perthes disease. Ten piglets were surgically induced with femoral head ischemia and euthanized at 4 and 8 weeks following surgery. Contralateral, unoperated femoral heads were used as controls. Bone and calcified cartilage mineralization density distribution parameters were determined using quantitative backscattered electron imaging (qBEI) in the epiphyseal calcified articular cartilage, subchondral bone and central trabecular bone region. Histological as well as radiographic assessment was also performed. In the necrotic calcified epiphyseal cartilage matrix, a significant increase in the mean degree of mineralization (CaMean: +24%, p

Background: Osteonecrosis of the femoral head is a common disorder which can lead to hip joint destruction usually necessitating total hip replacement. Methods: Quantitative micro-computed tomography, digital radiography and histology were used to characterize changes in bone microarchitecture and bone mineral density during the repair of the osteonecrotic femoral head as well as during the development of secondary osteoarthritis in the ipsilateral acetabulum. Osteonecrosis was induced surgically in 17 adult, male rabbits and the contralateral side was used as control. Results: At 4 weeks no changes in microarchitecture in the femoral head nor in the acetabulum were found. At 6 months the repair process led to an increase in bone mass in the trabecular region of the femoral head. However, a decrease in volumetric bone mineral density and an increase in apparent porosity were seen in the compact subchondral and cortical region of the osteonecrotic femoral head. At 6 months the subchondral bone of the osteoarthritic ipsilateral acetabulum was thicker, but had a lower volumetric bone mineral density and a higher apparent porosity. Conclusion: Resorption of necrotic compact bone may weaken the structural properties of the femoral head. Moreover, remodeling and resorption of subchondral bone may play a critical role in the disease process of osteoarthritis.

We prospectively evaluated the one- and seven-year results of the Weil osteotomy for the treatment of metatarsalgia with subluxed or dislocated metatarsophalangeal joints in 25 feet of 24 patients. Good to excellent results were achieved in 21 feet (84%) after one year and in 22 (88%) after seven years. The American Orthopaedic Foot and Ankle Society score significantly improved from 48 (sd 15) points before surgery to 75 (sd 24) at one year, and 83 (sd 18) at seven years. The procedure significantly reduced pain, diminished isolated plantar callus formation and increased the patient’s capacity for walking. Redislocation of the metatarsophalangeal joint was seen in two feet (8%) after one year and in three (12%) after seven years. Although floating toes and restricted movement of the metatarsophalangeal joint may occur, the Weil osteotomy is safe and effective.

The evaluation of health-related quality of life is an established criterion for the evaluation of therapeutic measurement. Especially in the English language, a great number of different questionnaires have been developed. The original, English-language 12-item Oxford shoulder score (OSS) is a recently developed and validated patient-completed outcome measure specifically designed for the evaluation of patients suffering from shoulder pathology other than instability. Because of the lack of a comparable instrument in German, this questionnaire was translated into German and subsequently tested for validity and reliability in a cross-sectional study. Translation of the OSS was done according to the guidelines in the literature. One hundred two patients completed the German version of the OSS and the SF-36. Additionally, the Constant shoulder score and the UCLA shoulder score were included into the validation process. The psychometric properties feasibility and patient-burden parameters were also tested. The patients completed all questionnaires. The mean time required for completing the OSS was 3 min, 25 s; the mean time required for evaluation of the questionnaire was 35 s. The internal consistency tested by the Cronbach’s alpha (0.94) was high. The reproducibility tested by two different methods showed no significant difference. The construct validity showed a significant correlation between the OSS and the other scores. The instrument proved to be valid by demonstrating the same correlations predicted by standard clinical assessments and a generic patient-based instrument. Application and evaluation in clinical trial proved feasible and minimally time consuming. Therefore, the German translation of the Oxford shoulder score is a valid and reliable tool, applicable to outcome studies on shoulder patients.

Raymond Yu, Jochen G. Hofstaetter, Thomas Sullivan, Kerry Costi, Donald W. Howie, Lucian B. Solomon

Background Limited 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/purposes The 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. Methods This 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. Results Patients 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. Conclusions Patients 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 this can be confirmed in a larger number of patients, the information may guide surgeons in their discussion with patients preoperatively and give them some objective assessment of what to expect regarding sports activities. Level of Evidence Level IV, therapeutic study.