Primary ciliary dyskinesia (PCD) is a genetically heterogeneous recessive disorder caused by several distinct defects in genes responsible for ciliary beating, leading to defective mucociliary clearance often associated with randomization of left/right body asymmetry. Individuals with PCD caused by defective radial spoke (RS) heads are difficult to diagnose owing to lack of gross ultrastructural defects and absence of situs inversus. Thus far, most mutations identified in human radial spoke genes (RSPH) are loss-of-function mutations, and missense variants have been rarely described. We studied the consequences of different RSPH9, RSPH4A, and RSPH1 mutations on the assembly of the RS complex to improve diagnostics in PCD. We report 21 individuals with PCD (16 families) with biallelic mutations in RSPH9, RSPH4A, and RSPH1, including seven novel mutations comprising missense variants, and performed high-resolution immunofluorescence analysis of human respiratory cilia. Missense variants are frequent genetic defects in PCD with RS defects. Absence of RSPH4A due to mutations in RSPH4A results in deficient axonemal assembly of the RS head components RSPH1 and RSPH9. RSPH1 mutant cilia, lacking RSPH1, fail to assemble RSPH9, whereas RSPH9 mutations result in axonemal absence of RSPH9, but do not affect the assembly of the other head proteins, RSPH1 and RSPH4A. Interestingly, our results were identical in individuals carrying loss-of-function mutations, missense variants, or one amino acid deletion. Immunofluorescence analysis can improve diagnosis of PCD in patients with loss-of-function mutations as well as missense variants. RSPH4A is the core protein of the RS head.

Background Limb lengthening with magnetically driven intramedullary lengthening nails is a fast-developing field and represents an alternative to external fixators. Although previous studies have assessed the application of magnetically driven intramedullary lengthening nails, these studies have been heterogenous regarding the nailing approach, the bone treated, and the implant type; they also have

Introduction: D-dimer is a diagnostic criterion for periprosthetic joint infection (PJI) of the Musculoskeletal Infection Society (MSIS) in 2018. The aim of this study was to evaluate the serum D-dimer values in comparison to C-reactive protein (CRP) and interleukin-6 (IL-6) for the diagnosis of PJI. Materials and Methods: We included 119 patients (50 women, 69 men; 71 knees, 48 hips) undergoing revision arthroplasty with preoperative assessment of CRP, IL-6, and serum D-dimer. Cases were classified as infected or aseptic based on the MSIS criteria of 2018. Receiver operating curves and Youden’s index were used to define an ideal cut-off value and sensitivity and specificity for the individual parameters, and respective combinations were calculated using cross-tables. Results: The median D-dimer level (2320 vs. 1105 ng/mL; p < 0.001), the median CRP level (4.0 vs. 0.5 mg/dL; p < 0.001), and the median IL-6 level (21.0 vs. 5.0 pg/mL; p < 0.001) were significantly higher in the group of PJI compared to the group with aseptic failure. The calculated optimal cut-off values were 2750 ng/mL (AUC 0.767) for D-dimer, 1.2 mg/dL (AUC 0.914) for CRP, and 10.0 pg/mL (AUC 0.849) for IL-6. D-dimer showed a sensitivity of 38% and specificity of 94%, whereas the CRP and IL-6 had sensitivities of 88% and 76%, and specificities of 87% and 92%, respectively. Conclusion: In comparison with CRP and IL-6, serum D-dimer showed low sensitivity and specificity in our cohort. While CRP and IL-6 combination had the highest sensitivity, a combination of Il-6 and D-dimer or CRP and IL-6 had the highest specificity.

Purpose Megaprosthetic distal femoral reconstruction (DFR) is a limb-salvage procedure to address bone loss following two-stage revision for periprosthetic knee joint infection (PJI). The purpose of this study was to analyze the survival of DFR compared to hinged total knee arthroplasty (TKA). It was hypothesized that DFR was associated with a poorer survival. Methods In this retrospective single-center study, 97 subjects who underwent two-stage revision of chronic knee PJI were included. Among these, 41 were DFR. The diagnosis of PJI was established using the Musculoskeletal Infection Society (MSIS) criteria. Implant survival was calculated using Kaplan–Meier method and compared with the log-rank test as well as multivariate Cox regression at a minimum follow-up period of 24 months. Results The median follow-up period was 59 (interquartile range (IQR) 45–78) months. Overall, 24% (23/97) of patients required revision surgery for infection. The infection-free survival of rotating hinge revision TKA was 93% (95% Confidence Interval (CI) 86–100%) at five years compared to 50% (95% CI 34–66%) for DFR. In multivariate analysis, the risk factors for reinfection were DFR reconstruction (HR 4.7 (95% CI 1–22), p = 0.048), length of megaprosthesis (HR 1.006 (95% CI 1.001–1.012), p = 0.032) and higher BMI (HR 1.066, 95% CI 1.018–1.116), p = 0.007). 10% (4/41) of patients undergoing DFR underwent amputation to treat recurrent infection. Conclusion Megaprosthetic DFR as part of a two-stage exchange for PJI is a salvage treatment that has a high risk for reinfection compared to non-megaprosthetic TKA. Patients must therefore be counseled accordingly. Level of evidence Retrospective observational study, Level IV.

Different approaches for intramedullary lengthening nails can be used in children and adolescents to correct leg length discrepancy with or without concomitant deformities. The treatment is limited by the size of the available nails, the residual growth and extent of the deformity. Larger trials will be needed to further validate the application of lengthening nails in skeletally immature patients.

Aims Temporary epiphysiodesis (ED) is commonly applied in children and adolescents to treat leg length discrepancies (LLDs) and tall stature. Traditional Blount staples or modern two-hole plates are used in clinical practice. However, they require accurate planning, precise surgical techniques, and attentive follow-up to achieve the desired outcome without complications. This study reports the results of ED using a novel rigid staple (RigidTack) incorporating safety, as well as technical and procedural success according to the idea, development, evaluation, assessment, long-term (IDEAL) study framework. Methods A cohort of 56 patients, including 45 unilateral EDs for LLD and 11 bilateral EDs for tall stature, were prospectively analyzed. ED was performed with 222 rigid staples with a mean follow-up of 24.4 months (8 to 49). Patients with a predicted LLD of ≥ 2 cm at skeletal maturity were included. Mean age at surgery was 12.1 years (8 to 14). Correction and complication rates including implant-associated problems, and secondary deformities as well as perioperative parameters, were recorded (IDEAL stage 2a). These results were compared to historical cohorts treated for correction of LLD with two-hole plates or Blount staples. Results The mean LLD was reduced from 25.2 mm (15 to 45) before surgery to 9.3 mm (6 to 25) at skeletal maturity. Implant-associated complications occurred in 4/56 treatments (7%), and secondary frontal plane deformities were detected in 5/45 legs (11%) of the LLD cohort. Including tall stature patients, the rate increased to 12/67 legs (18%). Sagittal plane deformities were observed during 1/45 LLD treatments (2%). Compared to two-hole plates and Blount staples, similar correction rates were observed in all devices. Lower rates of frontal and sagittal plane deformities were observed using rigid staples. Conclusion Treatment of LLD using novel rigid staples appears a feasible and promising strategy. Secondary frontal and sagittal plane deformities remain a potential complication, although the rate seems to be lower in patients treated with rigid staples. Further comparative studies are needed to investigate this issue. Cite this article: Bone Joint J 2021;103-B(8):1428–1437.

Aims This study aims to enhance understanding of clinical and radiological consequences and involved mechanisms that led to corrosion of the Precice Stryde (Stryde) intramedullary lengthening nail in the post market surveillance era of the device. Between 2018 and 2021 more than 2,000 Stryde nails have been implanted worldwide. However, the outcome of treatment with the Stryde system is insufficiently reported. Methods This is a retrospective single-centre study analyzing outcome of 57 consecutive lengthening procedures performed with the Stryde nail at the authors’ institution from February 2019 until November 2020. Macro- and microscopic metallographic analysis of four retrieved nails was conducted. To investigate observed corrosion at telescoping junction, scanning electron microscopy (SEM) and energy dispersive x-ray spectroscopy (EDX) were performed. Results Adjacent to the nail’s telescoping junction, osteolytic changes were observed in bi-planar radiographs of 20/57 segments (35%) after a mean of 9.5 months (95% confidence interval 7.2 to 11.9) after surgery. A total of 8/20 patients with osseous alterations (40%) reported rest and ambulation pain of the lengthened segment during consolidation. So far, 24 Stryde nails were retrieved and in 20 (83%) macroscopic corrosion was observed at the nail’s telescoping junction. Before implant removal 11/20 radiographs (55%) of lengthened segments with these 20 nails revealed osteolysis. Implant retrieval analysis by means of SEM showed pitting and crevice corrosion. EDX detected chromium as the main metallic element of corrosion. Conclusion Patients are exposed to the risk of implant-related osteolysis of unclear short- and long-term clinical consequences. The authors advocate in favour of an early implant removal after osseous consolidation. Cite this article: Bone Joint Res 2021;10(7):425–436.

Treatment of congenital pseudarthrosis of the tibia remains a major challenge in pediatric orthopedics. Ideal timing and preference of surgical procedures are discussed controversially. A variety of reconstructive treatment strategies have been described in literature, but so far none has proven its superiority. The aim of treatment is to obtain long-term bone union, to prevent refracture, and to correct angular deformities and leg length discrepancies. This study retrospectively evaluates the outcome of different reconstructive strategies. Sixty-nine patients were identified who presented to our outpatient department between 1997 and 2019. Twenty-six of these patients underwent reconstructive surgical treatment and were included in this study. The study cohort was divided into three groups. Excision of the pseudarthrosis was performed in all patients in Group A and B, and in two patients of Group C. Group A (six/26 patients) received subsequent bone transport through external fixation maintaining original length. In Group B (15/26 patients), patients underwent either previous, simultaneous, or subsequent extrafocal lengthening through external fixation to reconstitute length. In Group C (five/26 patients), internal fixation with intramedullary nails was applied. Radiological and clinical evaluation was performed to assess bone union and complication rates. Results varied considerably between the study groups. Overall, the primary bone fusion rate was 69.2%. There were four refractures, all occurring in Group B. The long-term bone union rate without refracture was 53.8%. The overall complication rate was 53.8% and 23.1% showed persistent pseudarthrosis. Two secondary amputations were performed due to failed bone fusion. In conclusion, excision of the pseudarthrosis and extrafocal lengthening achieves a satisfying bone union rate and limb reconstruction, while bone transport does not offer significant advantages but shows higher complication rates. Intramedullary stabilization should be applied to maintain bone union, but shows lower bone union rates when used as a stand-alone treatment regimen. Regardless of the primary bone fusion rates, the probability of long-term bone union remains unpredictable.