Case Report: Non-ossifying fibromas with pathologic fractures in a patient with NONO-associated X-linked syndromic intellectual developmental disorder.

The NONO gene encodes a nuclear protein involved in transcriptional regulation, RNA synthesis and DNA repair. Hemizygous loss-of function, de novo or maternally inherited variants in NONO have been associated with an X-linked syndromic intellectual developmental disorder-34 (OMIM # 300967), characterized by developmental delay, intellectual disability, hypotonia, macrocephaly, elongated face, structural abnormalities of corpus callosum and/or cerebellum, congenital heart defect and left ventricular non-compaction cardiomyopathy. Few patients have been described in the literature and the phenotype data are limited. We report a 17-year-old boy with dolihocephaly, elongated face, strabismus, speech and motor delay, intellectual disability, congenital heart defect (ASD, VSD and Ebstein's anomaly), left ventricular non-compaction cardiomyopathy, bilateral inguinal hernia and cryptorchidism. Additional features included recurrent fractures due to multiple non-ossifying fibromas, thrombocytopenia, and renal anomalies. Exome sequencing revealed a de novo pathogenic variant (NM_001145408.2: c.348+2_ 348+15del) in intron 5 of the NONO gene. Renal anomalies and thrombocytopenia have been rarely reported in patients with NONO-X-linked intellectual disability syndrome, while recurrent fractures due to multiple non-ossifying fibromas have not previously been associated with this syndrome. The phenotypic spectrum of NONO-X-linked intellectual disability syndrome may be broader than currently known.

Clinical and laboratory predictors for prosthetic joint infection within the first postoperative days following primary total hip and knee arthroplasty.

PURPOSE: To identify clinical and laboratory predictors for low- and high-grade prosthetic joint infection (PJI) within the first postoperative days following primary total hip/knee arthroplasty (THA/TKA). METHODS: Institutional bone and joint infection registry of a single osteoarticular infection referral centre was reviewed to identify all osteoarticular infections treated between 2011 and 2021. Among them were 152 consecutive PJI (63 acute high-grade PJI, 57 chronic high-grade PJI, and 32 low-grade PJI) who also had primary THA/TKA performed at the same institution, which were retrospectively analyzed with multivariate logistic regression and covariables. RESULTS: For each additional day of wound discharge, persistent wound drainage (PWD) predicted PJI in the acute high-grade PJI group with odds ratio (OR) 39.4 (p = 0.000, 95%CI 1.171-1.661), in the low-grade PJI group with OR 26.0 (p = 0.045, 95%CI 1.005-1.579), but not in the chronic high-grade PJI group (OR 16.6, p = 0.142, 95%CI 0.950-1.432). The leukocyte count product of pre-surgery and POD2 >100 predicted PJI in the acute high-grade PJI group (OR 2.1, p = 0.025, 95%CI 1.003-1.039) and in the chronic high-grade PJI group (OR 2.0, p = 0.018, 95%CI 1.003-1.036). Similar trend was also seen in the low-grade PJI group, but was not statistically significant (OR 2.3, p = 0.061, 95%CI 0.999-1.048). CONCLUSIONS: The most optimal threshold value for predicting PJI was observed only in the acute high-grade PJI group, where PWD >three days after index surgery yielded 62.9% sensitivity and 90.6% specificity, whereby the leukocyte count product of pre-surgery and POD2 >100 showed 96.9% specificity. Glucose, erythrocytes, hemoglobin, thrombocytes, and CRP showed no significant value in this regard.

Giant Cell Tumor of Bone Versus Tenosynovial Giant Cell Tumor - Similarities and Differences.

Giant cell tumor of bone (GCTB) and tenosynovial giant cell tumor (TGCT) share misleadingly similar names, soft texture and brown color macroscopically, osteoclast-like multinucleated giant cells microscopically and localisation in the musculoskeletal system. However, these two tumor types are biologically and clinically two distinct entities with different natural courses of progression and considerably different modes of surgical and medical treatment. In this article, we provide a detailed update on the similarities and the differences between both tumor types.GCTB is a locally aggressive osteolytic bone tumor, commonly seen in patients in their third decade of life. It usually occurs as a solitary lesion in the meta-epiphyseal region of long bones. It can be diagnosed using plain radiographic imaging, CT radiography or MRI to estimate the tumor extent, soft tissue and joint involvement. GCTB is usually treated with intralesional excision by curettage. Systemically, it can be treated with bisphosphonates and denosumab or radiotherapy.TGCT is a rare, slowly progressing tumor of synovial tissue, affecting the joint, tendon sheath or bursa, mostly seen in middle-aged patients. TGCT is usually not visible on radiographs and MRI is mostly used to enable assessment of potential bone involvement and distinguishing between two TGCT types. Localised TGCT is mostly treated with marginal surgical resection, while diffuse TGCT is optimally treated with total synovectomy and is more difficult to remove. Additionally, radiotherapy, intraarticular injection of radioactive isotopes, anti-TNF-α antibodies and targeted medications may be used.

Cohort analysis of two thousand nine hundred forty-three Link Lubinus SP II cemented total hip arthroplasties from a single hospital with surgeon stratification and twenty six thousand, nine hundred and eighty one component-years of follow-up.

PURPOSE: Cemented total hip endoprosthesis Link Lubinus SP II has been used for decades with very good results in arthroplasty registries, but surgeon-stratified reports of endoprosthetic survival are very rare. The aim of the presented single hospital cohort analysis of this implant was to determine Link Lubinus SP II survival rates 10/15/20/25/30 years after the primary implantation and to find out whether endoprosthesis survival depended on patients' age, gender, operated side, implanted femoral head diameter, and the operating surgeon. METHODS: The study included 2943 consecutive primary Link Lubinus SP II hip endoprostheses implanted at the University Medical Centre Ljubljana, Department of Orthopaedic Surgery (Ljubljana, Slovenia) between January 1, 1985, and December 31, 2018. Kaplan-Meier analysis and Cox regression were performed after minimum two and maximum 30 years of follow-up. RESULTS: At 10/15/20/25/30 years after implantation, the estimated cumulative proportion of revision-free surviving Link Lubinus SP II total hip endoprostheses was 94/90/88/87/87% and the cumulative proportion with unremoved endoprosthetic components was 96/93/90/89/89%, respectively. Higher patient's age at operation was associated with lower risk of subsequent implant removal (hazard ratio 0.97 for each additional year of age; 95% confidence interval 0.95-0.99; p = 0.00), while the patient's gender, the implanted femoral head diameter, and the operating surgeon had no significant impact on implant survival. CONCLUSION: The study presents the largest published Link Lubinus SP II total hip arthroplasty cohort from a single non-developmental hospital with 26,981 component-years of observation. The findings highlight excellent outcomes of this implant in the elderly population, regardless of performance variability between surgeons.

Osteoid osteoma of the foot : Presentation, treatment and outcome of a multicentre cohort.

BACKGROUND: Osteoid osteomas of the foot are rare, with a varying and atypical clinical as well as radiological presentation impeding early diagnosis and treatment. The aim of the present multicentre study was to 1) analyze epidemiological, clinical and radiological findings of patients with foot osteoid osteomas and to 2) deduce a diagnostic algorithm based on the findings. METHODS: A total of 37 patients (25 males, 67.6%, mean age 23.9 years, range 8-57 years) with osteoid osteomas of the foot were retrospectively included, treated between 2000 and 2014 at 6 participating tertiary tumor centres. Radiographic images were analyzed, as were patients' minor and major complaints, pain relief and recurrence. RESULTS: Most osteoid osteomas were located in the midfoot (n = 16) and hindfoot (n = 14). Painful lesions were present in all but one patient (97.3%). Symptom duration was similar for hindfoot and midfoot/forefoot (p = 0.331). Cortical lesions required fewer x­rays for diagnosis than lesions at other sites (p = 0.026). A typical nidus could be detected in only 23/37 of x­rays (62.2%), compared to 25/29 CT scans (86.2%) and 11/22 MRIs (50%). Aspirin test was positive in 18/20 patients (90%), 31 patients (83.8%) underwent open surgery. Pain relief was achieved in 34/36 patients (outcome unknown in one), whilst pain persisted in two patients with later confirmed recurrence. CONCLUSIONS: As previously reported, CT scans seem to be superior to MRIs towards detection of the typical nidus in foot osteoid osteomas. In patients with unclear pain of the foot and inconclusive x­rays, osteoid osteoma should be considered as differential diagnosis.

The role of molecular diagnostics in aneurysmal and simple bone cysts - a prospective analysis of 19 lesions.

Aneurysmal (ABC) and simple bone cysts (SBC) have been traditionally distinguished by radiological and histopathological features. However, there is some radiological and histopathological overlap between ABC and SBC. ABC is characterised by USP6 fusions while, recently, NFATC2 fusions have been found in a large proportion of SBC. Identifying these fusions may assist in confirming the diagnosis of either ABC or SBC. To elaborate the potential benefit of molecular testing, we report a prospective series of 19 consecutive bone cysts with comprehensive radiological, histopathological and molecular diagnostics. Integrating radiological, histopathological and molecular findings, 11 cysts were diagnosed as SBC and 8 as ABC. Radiologically, 6 of 11 SBC and 6 of 8 ABC were diagnosed as ABC. Fibrin-like collagen deposits were identified in 8 of 11 (73%) SBC and 3 of 8 (38%) ABC. Nodular fasciitis-like areas were identified in 6 of 8 (75%) ABC and in 7 of 11 (64%) SBC. A USP6 fusion was identified in all 8 ABC, including a novel RBM5-USP6 fusion. An NFATC2 fusion was found in 7 of 11 SBC (FUS-NFATC2 fusion in 5 and EWSR1-NFATC2 in 2 cases). There is radiological and histopathological overlap between SBC and ABC in a significant proportion of cases. A diagnosis of ABC is frequently suggested radiologically in SBC, and fibrin-like deposits, thought to be specific for SBC, may be found in some ABC. Molecular testing may significantly improve diagnostic accuracy in bone cysts.

FUS-NFATC2 or EWSR1-NFATC2 Fusions Are Present in a Large Proportion of Simple Bone Cysts.

A simple bone cyst (SBC) is a benign bone lesion of unknown etiology. It can be differentiated from an aneurysmal bone cyst (ABC) by radiologic and histopathologic features, as well as by the absence of fusions of the USP6 gene characteristic of an ABC. In an attempt to differentiate between ABC and SBC in a recurrent bone cyst, we performed targeted RNA sequencing and found an EWSR1-NFATC2 fusion and no fusion of the USP6 gene. We subsequently analyzed additional 10 cysts, consistent with SBCs after radiologic-pathologic correlation, for the presence of an NFATC2 gene fusion, by targeted RNA sequencing, reverse-transcription polymerase chain reaction (RT-PCR) and Sanger sequencing, and fluorescent in situ hybridization. Targeted RNA sequencing showed a FUS-NFATC2 fusion in 4 of 11 SBCs and an EWSR1-NFATC2 fusion in 2 of 11 SBCs. No fusion was identified in 3 SBCs and the analysis was not successful in 2 SBCs because of the low quantity or poor quality of isolated RNA. All the 6 fusions detected by targeted RNA sequencing were confirmed by RT-PCR and Sanger sequencing, and 5 of the 6 fusions by fluorescent in situ hybridization. An additional FUS-NFATC2 fusion was identified by RT-PCR, Sanger sequencing, and fluorescent in situ hybridization in 1 of the 3 cases negative for fusions by targeted RNA sequencing. At least a large subset of SBCs represents cystic neoplasms characterized by FUS-NFATC2 or EWSR1-NFATC2 fusions, which also define a group of distinct, rare "Ewing-like" sarcomas that predominantly arise in long bones. Our results provide additional evidence of the existence of benign lesions with FUS-NFATC2 or EWSR1-NFATC2 fusions. Although they can recur locally in a nondestructive manner, their clinical course and possible relation to sarcoma with EWSR1-NFATC2 or FUS-NFATC2 fusion remains to be elucidated.

Surgeon-stratified cohort analysis of 1976 cementless Zweymüller total hip arthroplasties from a single hospital with 23,255 component years of follow-up.

INTRODUCTION: The third-generation Zweymüller hip endoprosthesis has been used for decades with excellent results in arthroplasty registries, but surgeon-stratified reports on this implant are still scarce. The aim of the presented single-hospital cohort analysis of the third-generation Endoplus-Zweymüller primary total hip arthroplasty was to determine implant survival rates until the first revision/removal at 10/15/20/25 years after implantation and to find out whether implant survival depended on the operating surgeon, patient's age and gender, operated side (right/left), season of the year and the set of implanted components (SL-PLUS femur, BICON-PLUS acetabulum or both components). MATERIALS AND METHODS: The retrospective observational cohort study included 1976 consecutive patients with primary BICON/SL-PLUS Zweymüller hip endoprosthesis implanted at the same operating theater block of the University Medical Centre Ljubljana, Department of Orthopaedic Surgery (Ljubljana, Slovenia) between January 1, 1993 and May 1, 2014. Survival analyses were performed with the Kaplan-Meier method and the Cox regression analysis after minimum 5 and maximum 26 years of follow-up. RESULTS: At 10/15/20/25 years after implantation, the cumulative proportion of revision-free surviving Zweymüller total hip endoprostheses was 92/90/85/81% and the cumulative proportion with unremoved immobile components was 93/91/87/84%, respectively. After adjustment for age, gender and operated side, less experienced surgeons (odds ratios 2.34-5.00), season of the year at primary implantation (spring vs. winter odds ratio 1.74) and the use of BICON-PLUS acetabulum with femoral stem from another manufacturer (odds ratio 2.23) were significant risk factors of worse implant survival. CONCLUSIONS: The study presents the largest published third-generation Zweymüller BICON/SL-PLUS total hip arthroplasty cohort from a single non-developmental hospital with 23,255 component years of observation. Study findings indicate the impact of environmental factors at primary implantation and variability between different surgeons on the long-term implant survival.

Novel ASAP1-USP6, FAT1-USP6, SAR1A-USP6, and TNC-USP6 fusions in primary aneurysmal bone cyst.

Aneurysmal bone cyst (ABC) is a benign but locally aggressive neoplasm, with a tendency for local recurrence. In contrast to other bone tumors with secondary cystic change, ABC is characterized by USP6 gene rearrangement. There is a growing list of known USP6 fusion partners, characterization of which has been enabled with the advent of next-generation sequencing (NGS). The list of known fusion partners includes CDH11, CNBP, COL1A1, CTNNB1, EIF1, FOSL2, OMD, PAFAH1B1, RUNX2, SEC31A, SPARC, STAT3, THRAP3, and USP9X. Using NGS, we analyzed a series of 11 consecutive ABCs and identified USP6 fusions in all cases, providing further evidence that USP6 fusions are universally present in primary ABCs. We identified four novel fusion partners in five ABCs and confirmed them by RT-PCR and Sanger sequencing, ASAP1, FAT1, SAR1A, and TNC (in two cases). Because of high sensitivity and specificity, detection of a USP6 fusion by NGS may assist in differentiating between ABC and its mimics, especially in small biopsy samples when a definite diagnosis cannot be achieved on morphological grounds alone. Further studies with a large number of cases and follow-up are needed to determine whether different fusion partners are associated with specific clinical and pathologic features of ABCs.

Oncological and endoprosthetic outcomes of bone sarcoma patients: a nationwide cohort study.

PURPOSE: To retrospectively analyze the entire cohort of patients in the Republic of Slovenia diagnosed with bone sarcomas in the long bones or pelvis/sacrum/coccyx from January 1, 2009, to December 31, 2018, with an observational nationwide study, whereby all patients were evaluated by one single tumor board in the country. We evaluated surgical outcomes and tested whether survival of bone sarcoma patients depended on age, gender, histological diagnosis. MATERIALS AND METHODS: Cancer Registry of the Republic of Slovenia was screened for all ICD-10 diagnoses from C40.0 to C40.9 and C41.4 in the designated time frame, and the patients were then clinically followed up until the end of the observation period on June 1, 2019. RESULTS: The cohort of 160 patients was treated surgically in 141 cases, 29 patients required subsequent revision(s) and cumulative endoprosthetic infection rate was 12.5%. In the follow-up, 54 patients died and the 2 patients were missing. Cumulative proportion of survival at 5/10 years was 61%/54%, respectively. After adjustment for age, gender and diagnosis, higher age (odds ratio 1.06 for each additional year), osteosarcoma (odds ratio 4.07) and Ewing sarcoma (odds ratio 11.68) were the significant risk factors of shorter oncological survival. CONCLUSION: This is the first Slovenian nationwide cohort study of bone sarcoma patients, unique in its circumscribed geographic area and evaluation/treatment at a single center by a single tumor board. Although comparable to other countries, results show a grim picture and the lack of improvement in bone sarcoma survival within the last 20 years.

Association of NLRP3 and CARD8 Inflammasome Polymorphisms With Aseptic Loosening After Primary Total Hip Arthroplasty.

Our aim was to investigate the association of inflammasome polymorphisms NLRP3 rs35829419 (p. Q705K) and CARD8 rs2043211 (p. C10X) with aseptic loosening of total hip endoprostheses. We asked whether patients with the loosening of total hip arthroplasty earlier than 15 years after primary implantation had a higher proportion of the polymorphisms Q705K and C10X in comparison to subjects without loosening. A retrospective case-control study compared 36 patients with total hip endoprosthesis loosening earlier than 15 years after primary implantation and 51 control subjects with unloosened total hip endoprostheses, matched for gender, age, and follow-up period. Buccal mucosa samples were used for genomic DNA analysis and genotyped for NLRP3 rs35829419 and CARD8 rs2043211 using a fluorescence-based competitive allele-specific real-time polymerase chain reaction. The proportion of subjects with both wild-type NLRP3 and CARD8 (i.e., without Q705K or C10X) was considerably higher in the control group when compared with patients with early total hip arthroplasty loosening (49% vs. 28%; p = 0.05). After adjustment for gender, age, and follow-up, patients with combined wild type of both NLRP3 and CARD8 had significantly smaller odds for early implant loosening (odds ratio 0.33, p = 0.02). Investigated polymorphisms may influence several inflammatory pathways and contribute to the loosening of artificial implants with potential clinical significance for the appropriate selection of patients and endoprostheses when planning elective total hip arthroplasty. © 2019 Orthopaedic Research Society. Published by Wiley Periodicals, Inc. J Orthop Res 38:417-421, 2020.

What Factors Are Associated With Neck Fracture in One Commonly Used Bimodular THA Design? A Multicenter, Nationwide Study in Slovenia.

BACKGROUND: Femoral stems with bimodular (head-neck as well as neck-body) junctions were designed to help surgeons address patients' hip anatomy individually. However, arthroplasty registers have reported higher revision rates in stems with bimodular junctions than in stems with modularity limited to the head-neck trunnion. However, to our knowledge, no epidemiologic study has identified patient-specific risk factors for modular femoral neck fractures, and some stems using these designs still are produced and marketed. QUESTIONS/PURPOSES: The purposes of this study were (1) to establish the survival rate free from aseptic loosening of one widely used bimodular THA design; (2) to define the proportion of patients who experienced a fracture of the stem's modular femoral neck; and (3) to determine factors associated with neck fracture. METHODS: In this retrospective, nationwide, multicenter study, we reviewed 2767 bimodular Profemur® Z stems from four hospitals in Slovenia with a mean followup of 8 years (range, 3 days to 15 years). Between 2002 and 2015, the four participating hospitals performed 26,132 primary THAs; this implant was used in 2767 of them (11%). The general indications for using this implant were primary osteoarthritis (OA) in 2198 (79%) hips and other indications in 569 (21%) hips. We followed patients from the date of the index operation to the date of death, date of revision, or the end of followup on March 1, 2018. We believe that all revisions would be captured in our sample, except for patients who may have emigrated outside the country, but the proportion of people immigrating to Slovenia is higher than the proportion of those emigrating from it; however, no formal accounting for loss to followup is possible in a study of this design. There were 1438 (52%) stems implanted in female and 1329 (48%) in male patients, respectively. A titanium alloy neck was used in 2489 hips (90%) and a cobalt-chromium neck in 278 (10%) hips. The mean body mass index (BMI) at the time of operation was 29 kg/m (SD ± 5 kg/m). We used Kaplan-Meier analysis to establish survival rates, and we performed a chart review to determine the proportion of patients who experienced femoral neck fractures. A binary logistic regression model that controlled for the potential confounding variables of age, sex, BMI, time since implantation, type of bearing, diagnosis, hospital, neck length, and neck material was used to analyze neck fractures. RESULTS: There were 55 (2%) aseptic stem revisions. Survival rate free from aseptic loosening at 12 years was 97% (95% confidence interval [CI] ± 1%). Fracture of the modular neck occurred in 23 patients (0.83%) with a mean BMI of 29 kg/m (SD ± 4 kg/m.) Twenty patients with neck fractures were males and 19 of 23 fractured necks were long. Time since implantation (odds ratio [OR], 0.55; 95% CI 0.46-0.66; p < 0.001), a long neck (OR, 6.77; 95% CI, 2.1-22.2; p = 0.002), a cobalt-chromium alloy neck (OR, 5.7; 95% CI, 1.6-21.1; p = 0.008), younger age (OR, 0.91; 95% CI, 0.86-0.96; p < 0.001), and male sex (OR, 3.98; 95% CI, 1.04-14.55; p = 0.043) were factors associated with neck fracture. CONCLUSIONS: The loosening and neck fracture rates of the Profemur® Z stem were lower than in some of previously published series. However, the use of modular femoral necks in primary THA increases the risk for neck fracture, particularly in young male patients with cobalt-chromium long femoral necks. The bimodular stem we analyzed fractured unacceptably often, especially in younger male patients. For most patients, the risks of using this device outweigh the benefits, and several dozen patients had revisions and complications they would not have had if a different stem had been used. LEVEL OF EVIDENCE: Level III, therapeutic study.

Patient-dependent risk factors for self-perceived leg length discrepancy after total hip arthroplasty.

PURPOSE: Patients with equal objective leg length discrepancy (LLD) may have different subjective perceptions of this condition. Our aim was to analyze the effects of gender, age, operated side, surgical approach, body height, body mass index (BMI) and LLD measurements on self-perceived LLD after total hip arthroplasty (THA). MATERIALS AND METHODS: Observational cohort study with minimum 5-year follow-up included 159 patients with unilateral primary THA at a single institution, who reported subjective feeling of equal or unequal leg lengths after THA. Gender, age, body height, BMI, surgical approach, preoperative and postoperative absolute/relative/pelvic radiographic LLD measurements were included in direct comparison between groups and multivariate analyses with self-perceived LLD as the outcome variable. RESULTS: Out of 159 participants, 39% subjectively perceived postoperative LLD, while others reported equal leg lengths. The two groups postoperatively differed in the median relative LLD (10 mm vs. 5 mm; p = 0.01) and WOMAC (230 mm vs. 110 mm; p < 0.01), but not in the pelvic radiographic LLD. After adjustment for gender, age, operated side and surgical approach, postoperative relative LLD (odds ratio 1.38 for each 5 mm increment; 95% CI 1.01-1.74) and combination of BMI < 26 kg/m2 and body height < 1.75 m (odds ratio 2.49; 95% CI 1.14-5.41) were independent risk factors for self-perceived LLD. CONCLUSIONS: Clinical relative LLD measurements are better predictors of self-perceived postoperative LLD than pelvic radiographic measurements. Patients with smaller body dimensions will more likely report subjective leg length inequality at a given objective LLD, regardless of gender or age.

Comparison of three surgical treatment options for unicameral bone cysts in humerus.

Treatment of unicameral bone cysts (UBC) in the humerus with drainage screws is scarcely reported in the literature. The aim of this retrospective study was to compare drainage screws and alternative treatment methods with respect to the number of required surgical procedures to achieve sufficient UBC healing, postoperative fractures/recurrences/complications, and radiological outcome. Medical archives of two tertiary orthopedic referral centers were screened for all patients who were treated surgically for humeral UBC in the period 1991-2015 with a histologically/cytologically confirmed diagnosis. Sex, age, all surgical procedures, fractures, complications, recurrences, and the final radiological outcome were compared between patients treated with drainage screws, elastic intramedullary nails, or curettage with optional grafting. The study included 106 operated patients with a mean age of 10.3 years, with a mean follow-up of 5.7 years. The average number of UBC-related surgical procedures in sex-matched and age-matched treatment groups was 2.7 with drainage screws, 2.8 with intramedullary nails, and 3.5 with curettage/grafting (P=0.54). Intramedullary nails (odds ratio 0.20) and older age (odds ratio for each year 0.83) predicted a lower risk of postoperative UBC recurrence. Patients with drainage screws had the highest UBC recurrence rates and the lowest rates of changed initial treatment method. There was no difference between the treatment groups in the postoperative fracture rate, complications, or the final radiological outcome. UBC treatment in the humerus therefore requires approximately three surgical procedures, irrespective of the treatment modality chosen. Adding an elastic intramedullary nail to a humeral UBC cyst may reduce recurrence risk and prevent further fractures. Level of Evidence: Level III - therapeutic retrospective comparative study.

Primary aneurysmal bone cyst with a novel SPARC-USP6 translocation identified by next-generation sequencing.

Aneurysmal bone cyst (ABC) is a benign but locally aggressive, mostly pediatric neoplasm, with characteristic USP6 gene rearrangement that distinguishes it from a secondary ABC and other primary bone tumors. With the advent of next-generation sequencing (NGS) technology, several hitherto unknown USP6 fusion partners have been identified in ABC. Accordingly, we present a case of an 18-year-old male with a solid sub-periosteal primary ABC in the diaphysis of the left femur. Using an NGS-based assay, we identified SPARC-USP6 fusion, which has not previously been described in ABC. Including our case, the list of currently known USP6 fusion partners in primary ABC include: CDH11, CNBP, COL1A1, CTNNB1, EIF1, FOSL2, OMD, PAFAH1B1, RUNX2, SEC31A, SPARC, STAT3 and THRAP3.

The impact of canal flare index on leg length discrepancy after total hip arthroplasty.

INTRODUCTION: The femoral stem should protrude from femur by an appropriate vertical distance to allow leg length equalization at hip arthroplasty; this distance depends on the size/shape of medullary canal and implant. The relationship between femoral morphology and achievability of leg length restoration is currently unclear. Our aim was to examine the impact of the femoral canal flare index (CFI) on the risk of leg length discrepancy (LLD) after total hip arthroplasty with different femoral stems. MATERIALS AND METHODS: The study cohort included 126 patients with unilateral primary total hip arthroplasty due to idiopathic osteoarthritis and three different types of implanted femoral stems. The impact of CFI on postoperative LLD was assessed with separate logistic regression model for each implant and covariables of age, gender, body mass index and femoral neck resection level. RESULTS: Higher CFI was an independent risk factor for postoperative LLD ≥ 5 mm with odds ratio 4.5 (p = 0.03) in 49 stems with cementless metaphyseal fixation Implantcast-EcoFit®, regardless of the femoral neck resection level. CFI had no significant impact on LLD in 30 stems with cementless diaphyseal fixation EndoPlus-Zweymüller® or 47 cemented collared stems Link-SPII®. No significant difference was observed between groups in pre/postoperative WOMAC scores, postoperative radiographic LLD, subjectively reported LLD, insole use or complications after mean 6.8 years of follow-up. CONCLUSIONS: Higher CFI increases the risk of clinically detectable postoperative LLD in single-wedge femoral stems with cementless metaphyseal fixation. CFI has no significant impact on LLD in femoral stems with cementless diaphyseal fixation or cemented fixation.

Does Preoperative Antimicrobial Prophylaxis Influence the Diagnostic Potential of Periprosthetic Tissues in Hip or Knee Infections?

BACKGROUND: Undiagnosed low-grade prosthetic joint infections (PJI) are recognized as an important reason for early failure of presumably aseptic revisions. Preoperatively administered antimicrobial prophylaxis reduces the incidence of PJI but it may reduce the sensitivity of microbiologic periprosthetic tissue cultures and consequently increase the incidence of undiagnosed septic prosthetic joint failures, which can lead to catastrophic serial revisions. QUESTIONS/PURPOSES: We wished to determine whether administration of preoperative antibiotics decreases the likelihood of diagnosing PJI in patients undergoing revision hip or knee arthroplasty in whom infection is suspected. METHODS: We prospectively enrolled and evaluated 40 patients (29 with THAs and 11 with TKAs) who met the following inclusion criteria: older than 18 years, with suspected PJI of unknown cause, undergoing surgical revision. After arthrotomy, three tissue samples were obtained for microbiologic analysis and diagnosis, and antimicrobial prophylaxis (cefazolin 2 g intravenously) then was administered. Later during the procedure, but before débridement and irrigation, the second set of three tissue samples was obtained from the same surgical area and was cultured. Tissue concentration of prophylactic antibiotic was verified with the second set of samples. A positive culture result was defined as one or more positive cultures (growth on agar at or before 14 days). We then compared the yield on the microbiologic cultures obtained before administration of antibiotics with the yield on the cultures obtained after antibiotics were administered. An a priori analysis was performed; with the numbers available, we had 98% power to detect a difference in diagnostic sensitivity of 33%. RESULTS: With the numbers available, we found no difference in the likelihood that an infection would be diagnosed between the samples obtained before and after administration of antimicrobial prophylaxis (odds ratio [OR] for positive microbial culture = 0.99; 95% CI, 0.40-2.48; p = 0.99). All measured tissue concentrations of cefazolin were greater than the minimum inhibitory concentration, therefore we found that antibiotic prophylaxis was adequate at the time of second-set tissue specimen recovery. CONCLUSIONS: Results from this small, prospective series suggest that preoperative antimicrobial prophylaxis may be administered safely even in patients undergoing revision hip or knee arthroplasty in which microbiologic sampling is planned without compromising the diagnostic sensitivity of tissue sample cultures. However, before applying our results more generally, our findings need to be confirmed in larger, multicenter studies that would allow evaluation by sex, procedure, bacteriology, and other potentially important factors. LEVEL OF EVIDENCE: Level I, diagnostic study.

Geometric analysis of indications for minimally invasive distal metatarsal osteotomy in treatment of hallux valgus.

BACKGROUND: Minimally invasive distal metatarsal osteotomy (MIDMO) is to be indicated for all patients with angles of IMA <20° and HV <40°, but many authors doubt whether this procedure is capable of correcting all types of hallux valgus deformities. The aims of this study were to perform a geometric analysis of MIDMO indications and to show which preoperative radiological parameters are necessary to achieve sufficient contact between bone fragments and sufficient correction with this operative technique. METHODS: A geometric mathematical model in AP and lateral radiographic plane was created based on preoperative measurements of the intermetatarsal angle (IMA), subcapital metatarsal width, medial bunion eminence, and metatarsal length. MIDMO was simulated with possible dorsal/plantar fragment displacement in order to assess postoperative contact between fragments (either 4-5 mm or half of the metatarsal width) and sufficient correction (postoperative IMA 8°). RESULTS: The metatarsal neck should be at least 8 mm wider from the bunion eminence to achieve the minimally required contact between fragments. For sufficient correction, the metatarsal head translation should be at least 0.018 of the metatarsal length for every degree of IMA reduction. The medial bunion eminence, in comparison with metatarsal width/length size, determines whether MIDMO is a suitable procedure for a given patient. CONCLUSIONS: MIDMO cannot sufficiently correct all deformations within the boundaries of IMA angle <20° and HV angle <40°. In patients with large eminences and narrow metatarsals, complications related to insufficient postoperative fragment contact can be expected, while sufficient hallux valgus correction in patients with small eminences and long metatarsals is questionable.

The influence of postoperative epidural analgesia on postoperative pain and stress response after major spine surgery--a randomized controlled double blind study.

Major spinal surgery is associated with severe postoperative pain and stress response, bowel dysfunction, and a potential for chronic pain development. Epidural analgesia has been shown to be advantageous compared to intravenous analgesia alone. The aim of the study was to investigate whether postoperative addition of epidural levobupivacaine to intravenous opioid analgesia offers advantage over intravenous opioid analgesia alone. Eighty-one patients scheduled for spinal fusion were enrolled in the study and randomized into two groups. Postoperatively, group A received 0.125% epidural levobupivacaine and group B received saline. Both groups also received intravenous piritramide as a rescue analgesic. Pain intensity, rescue analgesic consumption, blood glucose, cholesterol and cortisol levels, postoperative blood loss, paresthesia, time to first postoperative defecation, and length of hospital stay were recorded. Sixty-eight patients completed the study. The visual analog scale score (mean 2 vs. 4, p = 0.01), consumption ofpiritramide (25 mg vs. 51.5 mg, p = 0.01) and metamizole (1400 vs. 1875 mg, p < 0.01), incidence of nausea (6% vs. 28% p = 0.02) and blood loss (450 mL vs. 650 mL, p < 0.05) were significantly lower in group A. Bowel recovery and first postoperative defecation also occurred earlier in group A (6% vs. 45%, p < 0.01). Blood cortisol, glucose and cholesterol levels and the incidence of paresthesia did not differ between the groups. In conclusion, after spinal fusion, postoperative epidural administration of levobupivacaine provides better analgesia and fewer side effects with no impact on stress response.

Cumulative hip contact stress predicts osteoarthritis in DDH.

UNLABELLED: Hip stresses are generally believed to influence whether a hip develops osteoarthritis (OA); similarly, various osteotomies have been proposed to reduce contact stresses and the risk of OA. We asked whether elevated hip contact stress predicted osteoarthritis in initially asymptomatic human hips. We identified 58 nonoperatively treated nonsubluxated hips with developmental dysplasia (DDH) without symptoms at skeletal maturity; the control group included 48 adult hips without hip disease. The minimum followup was 20 years (mean, 29 years; range, 20-41 years). Peak contact stress was computed with the HIPSTRESS method using anteroposterior pelvic radiographs at skeletal maturity. The cumulative contact stress was determined by multiplying the peak contact stress by age at followup. We compared WOMAC scores and radiographic indices of OA. Dysplastic hips had higher mean peak contact and higher mean cumulative contact stress than normal hips. Mean WOMAC scores and percentage of asymptomatic hips in the study group (mean age 51 years) were similar to those in the control group (mean age 68 years). After adjusting for gender and age, the cumulative contact stress, Wiberg center-edge angle, body mass index, but not the peak contact stress, independently predicted the final WOMAC score in dysplastic hips but not in normal hips. Cumulative contact stress predicted early hip OA better than the Wiberg center-edge angle. LEVEL OF EVIDENCE: Level II, prognostic study. See the Guidelines for Authors for a complete description of levels of evidence.