携带同源重组修复相关基因突变的消化道肿瘤的临床特点

目的:探讨消化道肿瘤中同源重组修复相关基因(homologous recombination repair related gene，HRR)突变的发生情况及临床意义。方法:共92例消化道肿瘤患者，79例患者进行了血液标本HRR检测，53例患者进行了组织标本HRR检测，40例患者同时行血液和组织的HRR基因检测，收集患者基因检测结果及临床相关资料。结果:在79例患者血液标本检测中发现10例（12.6%）有临床意义HRR突变，在53例患者组织标本检测中发现9例（17.0%）有临床意义HRR突变。40例同时行血液和组织的HRR基因检测患者中常见的有临床意义HRR突变为CDK12突变4例（10.0%）、ATM突变3例（7.5%）、BRCA1突变2例（5.0%）。13例有临床意义HRR突变患者中常见共存突变为TP53突变10例（76.9%）、APC突变5例（38.5%）、PIK3CA突变4例（30.8%）。40例患者中13例患者血液和/或组织中有临床意义HRR突变，27例患者血液和组织中均无任何临床意义HRR突变且两组相比，有临床意义HRR突变组肿瘤突变负荷（tumor mutational burden，TMB）为6.17(2.24～11.52)，而未携带HRR突变组TMB为0.4(0～3.75)，差异有统计学意义（P＜0.05）。40例患者组织检测中7例HRR有临床意义的突变，33例无HRR突变，血液检测中10例HRR有临床意义的突变，30例无HRR突变，一致性检验的Kappa值为0.333（P=0.031）。结论:携带有临床意义HRR突变的消化道肿瘤患者TMB更高，血液和组织检测HRR突变有较好的一致性。     

运动学对线应用于全膝关节置换术的研究进展

全膝关节置换术是目前治疗终末期膝关节骨性关节炎最有效的方法之一，全膝关节置换术后膝关节功能、术后膝关节疼痛与术后下肢力线有着密切的关系。目前膝关节置换术下肢对线方式主要采用机械力学对线方法，该方法可以改善膝关节功能，但是有部分患者也会产生术后膝关节的疼痛、活动受限等并发症，导致术后患者满意度较差。近些年越来越多的研究开始关注运动力学对线技术并应用于临床。运动学对线技术旨在重建患者的解剖结构，将膝关节假体运动轴与膝关节生理性运动轴保持一致，减少膝关节周围软组织和韧带的松解，实现膝关节生理性运动。该文就运动力学对线方法在全膝关节置换术中的应用进展作一综述。     

Papillary thyroid carcinoma with a high tumor mutation burden has a poor prognosis

BackgroundTumor mutation burden (TMB) as a prognostic marker for immunotherapy has shown prognostic value in many cancers. However, there is no systematic investigation on TMB in papillary thyroid carcinoma (PTC).MethodsBased on the somatic mutation data of 487 PTC patients from The Cancer Genome Atlas (TCGA), TMB was calculated, and we classified the samples into high-TMB (H-TMB) and low-TMB (L-TMB) groups. Bioinformatics methods were used to explore the characteristics and potential mechanism of TMB in PTC.ResultsHigh TMB predicts shorter progression-free survival (PFS) (P < 0.001). TMB was positively correlated with age, stage, tumor size, metastasis, the male sex and tall cell PTC. Compared to the L-TMB group, the H-TMB group presented with lower immune cell infiltration, a higher proportion of tumor-promoting immune cells (M0 macrophages, activated dendritic cells and monocytes) and a lower proportion of antitumor immune cells (M1 macrophages, CD8⁺ T cells and B cells). Additionally, the characteristics displayed by different TMB groups were not driven by critical driver mutations such as BRAF and RAS.ConclusionsPTC patients with high TMB have a worse prognosis. By stratifying PTC patients according to their TMB, advanced PTC patients who are candidates for immunotherapy could be selected.     

The Outcome of Cemented Acetabular Components in Total Hip Arthroplasty for Osteoarthritis Defines a Proficiency Threshold: Results of 22,956 Cases From the Australian Orthopaedic Association National Joint Replacement Registry

BackgroundThe declining popularity of cemented acetabular components is incongruous, given the published results of prostheses implanted using contemporary techniques. The outcome of arthroplasty has previously been demonstrated to correlate with surgeon experience and volume of practice. We aim to explore if surgeon volume alters outcomes of cemented acetabular components based on survivorship data from the Australian Orthopaedic Association National Joint Replacement Registry (AOANJRR).MethodsAn observational study was undertaken using a cohort of 22,956 patients with a primary diagnosis of osteoarthritis in the period 2003-2016 in whom cemented acetabular components were implanted. The cohort was stratified by age (greater than or less than 65 years) and annualized surgical volume of ≤10, >10-≤25, and >25 cases.ResultsStratified by age and volume, there was a protective benefit against revision conveyed at volume thresholds of 10 cases per annum and 25 cases per annum for patients ≥65 years of age and <65 years of age, respectively.ConclusionCemented total hip arthroplasty has excellent survivorship out to 15 years based on AOANJRR data. This survivorship is further improved if surgeons perform a higher volume of cases, with >25 cases conferring the greatest benefit. The AOANJRR data set is used to define best practice; surgeons who choose to utilize cemented acetabular fixation should be encouraged to perform this technique in adequate volumes to minimize revision risk and ensure the preservation of this important surgical skill set.     

Surgical Helmets Used During Total Joint Arthroplasty Harbor Common Pathogens: A Cautionary Note

BackgroundThe use of personal-protection surgical helmet/hood systems is now a part of the standard surgical attire during arthroplasty in North America. There are no protocols for the disinfection of these helmets.MethodsThis is a prospective, single-center, observational study. Helmets worn by 44 members of the surgical team and foreheads of 44 corresponding surgical personnel were swabbed at three distinct time points. In addition, 16 helmets were treated with hypochlorite spray to determine if pathogens could be eliminated. Swabs obtained were processed for culture and next-generation sequencing (NGS).ResultsOf the 132 helmet samples, 97 (73%) yielded bacteria on culture and 94 (71%) had evidence of bacterial–deoxyribonucleic acid (DNA) on NGS. Of the swabs sent for bacterial identification at the three time points, at least one from each helmet was positive for a pathogen(s). Of the 132 forehead samples, 124 (93%) yielded bacteria on culture and 103 (78%) had evidence of bacterial-DNA on NGS. The most commonly identified organism from helmets was Cutibacterium acnes (86/132) on NGS and Staphylococcus epidermidis (47/132) on culture. The most commonly identified organism from the foreheads of surgical personnel was Cutibacterium acnes (100/132) on NGS and Staphylococcus epidermidis (70/132) on culture. Sanitization of helmets was totally effective; no swabs taken the following morning for culture and NGS identified any bacteria.ConclusionThis study demonstrates that surgical helmets worn during orthopedic procedures are contaminated with common pathogens that can potentially cause surgical site infections. The findings of this study should at the minimum compel us to develop protocols for the disinfection of these helmets.     

Migration and Inducible Displacement of the Bicruciate-Stabilized Total Knee Arthroplasty: A Randomized Controlled Trial of Gap Balancing and Measured Resection Techniques

BackgroundThe goal of this study is to investigate the migration and inducible displacement of a bicruciate-stabilized (BCS) total knee arthroplasty implanted using gap balancing (GB) or measured resection (MR) surgical techniques. We hypothesized equal migration and displacement between the techniques.MethodsThe study is a single-blinded, prospective, randomized controlled trial, with allocation of 71 patients to either GB or MR groups. Fifteen patients were withdrawn, resulting in 31 patients in the GB group and 25 in the MR group. Patients received the JOURNEY II? BCS implant. Migration and inducible displacement were evaluated using radiostereometric analysis and patient examinations were performed at a 2-week baseline, and at 6 weeks, 3 months, 6 months, 1 year, and 2 years postoperation.ResultsNo differences (P > .05) existed between GB and MR groups for any measurement of tibial or femoral migration. Both groups had tibial migrations below 0.5 mm from baseline to 6 months, and below 0.2 mm from both 6 months to 1 year and 1-2 years postoperation. No differences (P > .05) were found between GB and MR groups for inducible displacement.ConclusionNo differences were found in implant migration or inducible displacement between GB and MR groups. The BCS implant can be expected to have migration risks on par with industry standards and both surgical techniques are safe and effective options for implantation of this implant design.     

The Fate and Relevance of the Patella in Two-Stage Revision Total Knee Arthroplasty for Periprosthetic Joint Infection

BackgroundIt remains unclear whether reimplantation of a patellar component during a two-stage revision for periprosthetic total knee arthroplasty infection (PJI) affects patient reported outcome measures (PROMs) or implant survivorship. The purpose of this study was to evaluate whether patellar resurfacing during reimplantation confers a functional benefit or increases implant survivorship after two-stage treatment for PJI.MethodsTwo-stage revisions for knee PJI performed by three surgeons at a single tertiary care center were reviewed retrospectively. All original patellar components and cement were removed during resection and the patella was resurfaced whenever feasible during reimplantation. PROMs, implant survivorship, and radiographic measurements (patellar tilt and displacement) were compared between knees reimplanted with a patellar component versus those without a patellar component.ResultsA total of 103 patients met the inclusion criteria. Forty-three patients (41.7%) underwent reimplantation with, and 60 patients (58.3%) without a patellar component. At a mean follow-up of 33.5 months, there were no significant differences in patient demographics or PROMs between groups (P ≥ .156). No significant differences were found in the estimated Kaplan-Meier all-cause, aseptic, or septic survivorship between groups (P ≥ .342) at a maximum of 75 months follow-up. There was no significant difference in the change (pre-resection to post-reimplant) of patellar tilt (P = .504) or displacement (P = .097) between the groups.ConclusionPatellar resurfacing during knee reimplantation does not appear to meaningfully impact postoperative PROMs or survivorship. Given the risk of potential extensor mechanism complications with patellar resurfacing, surgeons may choose to leave the patella without an implant during total knee reimplantation and expect similar clinical outcomes.Level of EvidenceLevel III.     

Total bilirubin independently predicts incident metabolic syndrome among community-dwelling women

BackgroundMetabolic syndrome (MetS) is related to the increased risk of major cardiovascular diseases (CVD). The link between high serum total bilirubin (TBL) is cross-sectionally related to MetS and its components. However, whether serum TBL predicts incidence of MetS and its components remains inconclusive.MethodsThe present study included 893 women aged 70 ± 9 years from a rural village. We examined the relationship between serum TBL and MetS based on the modified criteria of the National Cholesterol Education Program's Adult Treatment Panel (NCEP-ATP) III report in a cross-sectional (N = 893) and cohort (N = 288) data.ResultsIn the cross-sectional study, serum TBL (β = 0.536, p < 0.001) as well as age, alcohol consumption, exercise habits, history of CVD, SUA, GGT, and ALT was significantly and dependently associated with number of MetS components, but in the cohort study serum TBL was not associated with number of MetS components. Compared with the 1st tertile of serum TBL (0.20–0.55 mg/dL), multivariate-adjusted odds ratio (95% confidence interval) for the 2nd -3rd tertiles of serum TBL (0.54–2.00 mg/dL) was 0.70 (0.51–0.95) in the cross-sectional study and 0.41 (0.21–0.81) in the cohort study.ConclusionsOur data demonstrated an independently negative association between serum TBL and MetS in Japanese community-dwelling women.