Arthroscopic partial meniscectomy versus exercise therapy for degenerative meniscal tears: 10-year follow-up of the OMEX randomised controlled trial.

OBJECTIVE: To evaluate radiographic knee osteoarthritis (OA) progression, development of knee OA, patient-reported outcomes and knee muscle strength at 10-year follow-up after arthroscopic partial meniscectomy (APM) or exercise therapy for degenerative meniscal tears. METHODS: Randomised controlled trial including 140 participants, with a degenerative meniscal tear and no or minimal radiographic OA changes. Participants were randomised to either APM or 12 weeks of exercise therapy (1:1 ratio). The primary outcome was knee OA progression assessed by the Osteoarthritis Research Society International (OARSI) atlas sum score (sum of medial and lateral compartment joint space narrowing and osteophyte score). Secondary outcomes included incidence of radiographic and symptomatic knee OA, patient-reported pain and knee function and isokinetic knee muscle strength. RESULTS: The adjusted mean difference in change in the OARSI sum score was 0.39 (95% CI -0.19 to 0.97), with more progression in the APM group. The incidence of radiographic knee OA was 23% in the APM group and 20% in the exercise group (adjusted risk difference 3% (95% CI -13% to 19%)). No clinically relevant differences were found in patient-reported outcomes or isokinetic knee muscle strength. CONCLUSION: No differences in radiographic knee OA progression and comparable rates of knee OA development were observed 10 years following APM and exercise therapy for degenerative meniscal tears. Both treatments were associated with improved patient-reported pain and knee function. TRIAL REGISTRATION NUMBER: NCT01002794.

Cryotherapy for treating soft tissue injuries in sport medicine: a critical review.

Sports medicine physicians and physiotherapists commonly use cryotherapy (eg, ice application) postinjury to decrease tissue temperature with the objective of reducing pain, limiting secondary injury and inflammation, and supporting healing. However, besides the analgesic effect of cryotherapy, a literature search revealed no evidence from human studies that cryotherapy limits secondary injury or has positive effects on tissue regeneration. Thus, our current understanding of the potential mechanisms and applications of cryotherapy largely relies on the results from animal studies. Importantly, treatment should not aim at obliterating the inflammatory and regeneration processes but instead aim to restore an adapted/normal regulation of these processes to improve function and recovery. However, some animal studies suggest that cryotherapy may delay or impair tissue regeneration. With the translation of laboratory animal studies to human sport medicine being limited by different injury and muscle characteristics, the effect of cryotherapy in patients with musculoskeletal injuries is uncertain. Thus, pending the results of human studies, cryotherapy may be recommended in the first 6 hours following an injury to reduce pain (and possibly haematoma), but it should be used with caution beyond 12 hours postinjury as animal studies suggest it may interfere with tissue healing and regeneration.

IOC consensus statement on elite youth athletes competing at the Olympic Games: essentials to a healthy, safe and sustainable paradigm.

With the pronounced ongoing growth of global youth sports, opportunities for and participation of youth athletes on the world sports stage, including the Olympic Games, are expected to escalate. Yet, adolescence is a vulnerable period of development and inherently dynamic, with non-linear and asynchronous progression of physical, physiological, psychological and social attributes. These non-concurrent changes within and between individuals are accompanied by irregular and unpredictable threats and impediments. Likewise, the evident age-based criteria and conventional path for those youth athletes deemed eligible candidates for the Olympic Games are not well or consistently defined. Furthermore, the unstructured and largely varying policies and practices across the sporting International Federations specific to youth participation underscore the need to establish a contemporary universal paradigm that would enable elite youth athletes to navigate an individualised healthy pathway to personal, athletic and sport success. First, we reviewed and summarised key challenges facing elite youth athletes and the relevant evidence fundamental to facilitating and supporting central aspects of health and well-being, while empowering safe, sustainable and positive engagement during athletic and personal advancement and competition. Second, we developed and present a modern elite youth athlete model that emphasises a child-centred, practical framework with corresponding guidelines and recommendations to protect health and well-being while safely and favourably managing international sport competition. Our proposed evidence-informed paradigm will enable and support individualised pathways for healthy, well-rounded and sustainable positive engagement while achieving sport success for youth contending or aiming to compete at world-class international sporting events.

Multiligament knee injury (MLKI): an expert consensus statement on nomenclature, diagnosis, treatment and rehabilitation.

Multiligament knee injuries (MLKIs) represent a broad spectrum of pathology with potentially devastating consequences. Currently, disagreement in the terminology, diagnosis and treatment of these injuries limits clinical care and research. This study aimed to develop consensus on the nomenclature, diagnosis, treatment and rehabilitation strategies for patients with MLKI, while identifying important research priorities for further study. An international consensus process was conducted using validated Delphi methodology in line with British Journal of Sports Medicine guidelines. A multidisciplinary panel of 39 members from 14 countries, completed 3 rounds of online surveys exploring aspects of nomenclature, diagnosis, treatment, rehabilitation and future research priorities. Levels of agreement (LoA) with each statement were rated anonymously on a 5-point Likert scale, with experts encouraged to suggest modifications or additional statements. LoA for consensus in the final round were defined 'a priori' if >75% of respondents agreed and fewer than 10% disagreed, and dissenting viewpoints were recorded and discussed. After three Delphi rounds, 50 items (92.6%) reached consensus. Key statements that reached consensus within nomenclature included a clear definition for MLKI (LoA 97.4%) and the need for an updated MLKI classification system that classifies injury mechanism, extent of non-ligamentous structures injured and the presence or absence of dislocation. Within diagnosis, consensus was reached that there should be a low threshold for assessment with CT angiography for MLKI within a high-energy context and for certain injury patterns including bicruciate and PLC injuries (LoA 89.7%). The value of stress radiography or intraoperative fluoroscopy also reached consensus (LoA 89.7%). Within treatment, it was generally agreed that existing literature generally favours operative management of MLKI, particularly for young patients (LoA 100%), and that single-stage surgery should be performed whenever possible (LoA 92.3%). This consensus statement will facilitate clinical communication in MLKI, the care of these patients and future research within MLKI.

The Fibular Collateral Ligament Is a More Important Restraint to Varus Laxity Compared to the Anterolateral Complex in the Anterior Cruciate Ligament-Deficient Knee in a Cadaveric Biomechanical Study.

PURPOSE: To compare the influence of the fibular collateral ligament (FCL) and the anterolateral complex (ALC) on varus knee laxity in paired anterior cruciate ligament (ACL)-deficient cadaveric knees using varus stress radiographs. METHODS: Varus laxity in 9 paired (N = 18, mean age 73.8 years) human cadaveric knees was assessed using varus stress radiographs with a 12-Nm varus stress applied at 20° of knee flexion. All knees underwent testing in the intact state and following ACL sectioning. One knee of each pair was randomly assigned to undergo FCL sectioning, and the contralateral knee was assigned to undergo ALC sectioning (anterolateral ligament [ALL] followed by the Kaplan fibers). RESULTS: Both FCL sectioning and ALC (ALL and the Kaplan fibers) sectioning resulted in increased lateral compartment gapping compared to the intact state, 2.44 mm and 1.13 mm, respectively. ALL sectioning with intact Kaplan fibers did not result in increased lateral compartment gapping. Paired knee comparison revealed a significantly greater influence of the FCL than the ALC in restraining lateral compartment gapping under an applied varus stress (P = .0003). CONCLUSIONS: Sectioning the FCL resulted in significantly greater lateral compartment gapping under a varus stress than combined sectioning of the ALL and Kaplan fibers in an ACL-deficient knee, although both scenarios resulted in significantly increased gapping compared to the intact state. Sectioning of the ALL with intact Kaplan fibers did not result in increased lateral compartment gapping. CLINICAL RELEVANCE: The FCL is the most important structure in restraining varus laxity in the ACL-deficient knee, and the ALC is of secondary importance in restraining varus laxity. In ACL-deficient patients with a high-grade pivot shift, mild varus laxity on clinical examination, and an intact FCL on magnetic resonance imaging, injury to the anterolateral complex should be considered and may be evaluated with varus stress radiographs. This study validates prior biomechanical studies of FCL deficiency and demonstrates that an approximately 1-mm increase in lateral compartment gapping on varus stress radiographs may occur secondary to ALC injury, and clinicians should be aware of this when considering treatment for ACL-deficient patients with high-grade anterolateral laxity.

A Machine Learning Model Demonstrates Excellent Performance in Predicting Subscapularis Tears Based on Pre-Operative Imaging Parameters Alone.

PURPOSE: To develop a machine learning model capable of identifying subscapularis tears before surgery based on imaging and physical examination findings. METHODS: Between 2010 and 2020, 202 consecutive shoulders underwent arthroscopic rotator cuff repair by a single surgeon. Patient demographics, physical examination findings (including range of motion, weakness with internal rotation, lift/push-off test, belly press test, and bear hug test), and imaging (including direct and indirect signs of tearing, biceps status, fatty atrophy, cystic changes, and other similar findings) were included for model creation. RESULTS: Sixty percent of the shoulders had partial or full thickness tears of the subscapularis verified during surgery (83% of these were upper third). Using only preoperative imaging-related parameters, the XGBoost model demonstrated excellent performance at predicting subscapularis tears (c-statistic, 0.84; accuracy, 0.85; F1 score, 0.87). The top 5 features included direct signs related to the presence of tearing as evidenced on magnetic resonance imaging (MRI) (changes in tendon morphology and signal), as well as the quality of the MRI and biceps pathology. CONCLUSIONS: In this study, machine learning was successful in predicting subscapularis tears by MRI alone in 85% of patients, and this accuracy did not decrease by isolating the model to the top features. The top five features included direct signs related to the presence of tearing as evidenced on MRI (changes in tendon morphology and signal), as well as the quality of the MRI and biceps pathology. Last, in advanced modeling, the addition of physical examination or patient characteristics did not make a significant difference in the predictive ability of this model. LEVEL OF EVIDENCE: Level III, diagnostic case-control study.

Analysis of the Characteristics of Patients Visiting the Tokyo 2020 Olympics Polyclinic.

OBJECTIVE: To evaluate the characteristics of patients who visited the Polyclinic during the Tokyo 2020 Olympics and analyze geographical and economic correlations with the number of clinic visits. DESIGN: Cross-sectional study. SETTING: Polyclinic during the Tokyo 2020 Olympics. PARTICIPANTS: Patients who visited the Polyclinic. INTERVENTION: Data from the electronic medical record system of the Polyclinic were extracted. MAIN OUTCOME MEASURES: The number of visits for each athlete or team official was calculated by country. Relationship between number of visits per patient and total number of team members, total health expenditure per capita, density of medical doctors, life expectancy at birth, and education expenditure per gross domestic product (GDP) were investigated. Independent variables related to medal tables were also investigated. RESULTS: The average number of visits per athlete was 0.67, and it was higher in athletes from non-high-income countries compared with high-income countries for both male and female athletes. Number of visits per athlete was higher in countries with low life expectancy at birth (95% CI, -0.16 to -0.02, P = 0.012) and education expenditure per GDP (95% CI, -0.17 to -0.04, P = 0.003). CONCLUSIONS: During the Tokyo 2020 Olympics, the number of visits to the Polyclinic per athlete was higher in countries with low life expectancy at birth and education expenditure per GDP.

The gender and sex data gap in anterior cruciate ligament injuries in paediatric patients.

Anterior cruciate ligament (ACL) injury is a concerning problem in the paediatric population, impacting joint health and longevity. Moreover, ACL injury hampers physical activity, which is important for children's social network and general well-being. Recent data demonstrates a rise in paediatric ACL reconstructions, affecting both girls and boys. However, it is unclear whether this rise reflects a higher injury rate or a more proactive approach towards surgery, as information on nonoperated patients is lacking. Regarding gender differences, increasing evidence implies that girls engaged in pivoting sports experience a higher incidence of ACL injuries and reinjuries compared to boys. Furthermore, data suggest that girls have inferior outcomes and lower return-to-sport rates than boys. The social context in which girls compete in sports is likely a significant contributing factor to the risk of serious knee injuries. Lack of attention and insufficient data on gender-based differences in ACL injuries, outcomes and evidence-based treatment guidelines highlight the need for further research on this topic. LEVEL OF EVIDENCE: Level IV.

Increased risk for early revision with quadriceps graft compared with patellar tendon graft in primary ACL reconstructions.

PURPOSE: Bone patella-tendon bone (BPTB) and hamstring tendon (HT) autografts are the most used grafts in primary anterior cruciate ligament (ACL) reconstructions (ACLR) in Norway. Quadriceps tendon (QT) autograft has gained more popularity during the past years. The purpose of this study is to compare revision rates and patient-reported outcomes of primary QT with BPTB and HT autograft ACL reconstructions in Norway at 2-year follow-up. It was hypothesized that there would be no difference in 2-year revision rates between all three autografts. METHODS: Data included primary ACLR without concomitant ligament surgeries, registered in the Norwegian Knee Ligament Register from 2004 through 2021. Revision rates at 2 years were calculated using Kaplan-Meier analysis. Hazard ratios (HR) for revision were estimated using multivariable Cox regression analysis with revision within 2 years as endpoint. Mean change in patient-reported outcome was recorded preoperatively and at 2 years through the Knee Injury and Osteoarthritis Outcome Score (KOOS) subcategories 'Sport' and 'Quality of Life' was measured for patients that were not revised and analysed with multiple linear regression. RESULTS: A total of 24,790 primary ACLRs were identified, 10,924 with BPTB, 13,263 with HT and 603 with a QT graft. Patients in the QT group were younger (23.5 years), more of them were women (58.2%) and over 50% had surgery <3 months after injury. The QT group had the highest prevalence of meniscal injuries (61.9%). Revision estimates at 2-years were 3.6%, 2.5% and 1.2% for QT, HT and BPTB, respectively (p < 0.001). In a Cox regression analysis with QT as reference, BPTB had a lower risk of revision (HR 0.4, 95% Cl 0.2-0.7, p < 0.001). No significant difference was observed in the revision risk between QT and HT (HR 1.1, 95% Cl 0.7-1.8, n.s.). The two most common reported reasons for revision were: traumatic graft rupture and nontraumatic graft failure. There were no differences between the groups in change of KOOS in subcategories 'Sport' and 'Quality of Life' at 2-years follow-up. CONCLUSION: The 2-year risk of revision after ACLR with QT was higher than BPTB and similar to HT. No difference was found between the groups in patient-reported outcomes. This study provides valuable insights for both surgeons and patients when making decisions about the choice of autografts in primary ACL reconstructions. LEVEL OF EVIDENCE: Level II.

Functional anterior cruciate ligament braces may have a role in select patient groups although there is presently limited evidence supporting or refuting their routine use: A scoping review of clinical practice guidelines and an updated bracing classification.

PURPOSE: The purpose of this study was to perform a scoping review of clinical practice guidelines (CPGs) concerning the use of functional anterior cruciate ligament (ACL) braces and to clarify the nomenclature for bracing relevant to ACL injury treatment in order to support prescribing clinicians. METHODS: A PubMed search for CPGs for the use of braces following ACL injury or reconstruction was performed. CPGs on the treatment of ACL injuries with sufficient attention to postoperative braces were included in this scoping review. The references used for supporting the specific CPG recommendations were reviewed. Specific indications for brace use including brace type, period of use following surgery and activities requiring brace use were collected. RESULTS: Six CPGs were identified and included this this review. Three randomised trials provided the evidence for recommendations on functional brace use following ACL reconstruction in the six CPGs. Functional ACL braces were the primary focus of the three randomised trials, although extension braces (postoperative knee immobilisers) were also discussed. A novel dynamic ACL brace category has been described, although included CPGs did not provide guidance on this brace type. CONCLUSIONS: Guidance on the use of functional ACL braces following ACL reconstruction is provided in six CPGs supported by three randomised trials. However, the brace protocols and patient compliance in the randomised trials render these CPGs inadequate for providing guidance on the use of functional ACL braces in the general and high-risk patient populations when returning to sport after ACL reconstruction. Functional ACL braces are commonly utilised during the course of ACL injury treatment although there is presently limited evidence supporting or refuting the routine use of these braces. Future studies are, therefore, necessary in order to provide guidance on the use of functional and dynamic ACL braces in high-risk patient populations. LEVEL OF EVIDENCE: Level II.

No difference in osteoarthritis, but less graft failures after 5 years, comparing anatomic double-bundle to anatomic single-bundle ACL reconstruction.

PURPOSE: The purpose of this study was to compare the incidence of knee osteoarthritis (OA) between the anatomic single-bundle (SB) and anatomic double-bundle (DB) anterior cruciate ligament (ACL) reconstruction technique after 5-year follow-up (FU). Secondary objectives were to compare patient-reported outcome measures (PROMs), clinical examination, activity level, functional tests and graft failures between the two groups. METHODS: The study was a secondary analysis after 5-year FU of a randomized controlled trial (RCT) (Clinical Trials NCT01033188). One hundred and twenty patients between 18 and 40 years were randomized to either anatomic SB or anatomic DB reconstruction. The Kellgren-Lawrence (KL) classification grade ≥2 and the Osteoarthritis Research Society International (OARSI) atlas criteria score ≥2 were used for defining OA. Additionally, PROMs were obtained and clinical examinations of the knees were performed. Finally, the number of patients experiencing graft failure in each group was recorded. RESULTS: Radiographic imaging was performed in 39 patients in the SB group and in 37 patients in the DB group. Four patients (10%) in the SB group and two (5%) in the DB group developed osteoarthritis according to the KL classification (p = 0.28). Five (13%) in the SB group and three (8%) in the DB group developed osteoarthritis according to the OARSI atlas criteria (p = 0.59; difference 5.0% [95% confidence interval, CI: -0.10 to 0.20]). There were no significant differences in the PROMs, clinical examinations, activity levels, or functional tests when comparing the two groups. Of initially 62 SB patients, 14 (23%) experienced graft failure compared to 4 (7%) of the 58 DB patients (p = 0.015; difference 0.016 [95% CI: 0.03-0.29]). CONCLUSION: At 5-year FU, there were no significant differences in the incidence of OA, PROMS, or other clinical findings comparing the anatomic DB to anatomic SB ACL reconstructed patients. There were fewer graft failures among patients treated with anatomic DB ACL reconstruction. LEVEL OF EVIDENCE: II.

External validation of the Norwegian anterior cruciate ligament reconstruction revision prediction model using patients from the STABILITY 1 Trial.

PURPOSE: A machine learning-based anterior cruciate ligament (ACL) revision prediction model has been developed using Norwegian Knee Ligament Register (NKLR) data, but lacks external validation outside Scandinavia. This study aimed to assess the external validity of the NKLR model (https://swastvedt.shinyapps.io/calculator_rev/) using the STABILITY 1 randomized clinical trial (RCT) data set. The hypothesis was that model performance would be similar. METHODS: The NKLR Cox Lasso model was selected for external validation owing to its superior performance in the original study. STABILITY 1 patients with all five predictors required by the Cox Lasso model were included. The STABILITY 1 RCT was a prospective study which randomized patients to receive either a hamstring tendon autograft (HT) alone or HT plus a lateral extra-articular tenodesis (LET). Since all patients in the STABILITY 1 trial received HT ± LET, three configurations were tested: 1: all patients coded as HT, 2: HT + LET group coded as bone-patellar tendon-bone (BPTB) autograft, 3: HT + LET group coded as unknown/other graft choice. Model performance was assessed via concordance and calibration. RESULTS: In total, 591/618 (95.6%) STABILITY 1 patients were eligible for inclusion, with 39 undergoing revisions within 2 years (6.6%). Model performance was best when patients receiving HT + LET were coded as BPTB. Concordance was similar to the original NKLR prediction model for 1- and 2-year revision prediction (STABILITY: 0.71; NKLR: 0.68-0.69). Concordance 95% confidence interval (CI) ranged from 0.63 to 0.79. The model was well calibrated for 1-year prediction while the 2-year prediction demonstrated evidence of miscalibration. CONCLUSION: When patients in STABILITY 1 who received HT + LET were coded as BPTB in the NKLR prediction model, concordance was similar to the index study. However, due to a wide 95% CI, the true performance of the prediction model with this Canadian and European cohort is unclear and a larger data set is required to definitively determine the external validity. Further, better calibration for 1-year predictions aligns with general prediction modelling challenges over longer periods. While not a large enough sample size to elicit the true accuracy and external validity of the prediction model when applied to North American patients, this analysis provides more support for the notion that HT plus LET performs similarly to BPTB reconstruction. In addition, despite the wide confidence interval, this study suggests optimism regarding the accuracy of the model when applied outside of Scandinavia. LEVEL OF EVIDENCE: Level 3, cohort study.

Previous cartilage surgery is associated with inferior patient-reported outcomes after knee arthroplasty.

PURPOSE: The hypothesis of the present study assumed that a history of focal cartilage lesions would not affect Knee Injury and Osteoarthritis Outcome scores (KOOSs) following knee arthroplasty compared to a matched national cohort of knee arthroplasty patients. METHODS: Fifty-eight knee arthroplasty patients with previous surgery for focal cartilage lesions (cartilage cohort) were compared to a matched cohort of 116 knee arthroplasty patients from the Norwegian Arthroplasty Register (control group). Age, sex, primary or revision arthroplasty, type of arthroplasty (total, unicondylar or patellofemoral), year of arthroplasty surgery and arthroplasty brand were used as matching criteria. Demographic data and KOOS were obtained through questionnaires. Regression models were employed to adjust for confounding factors. RESULTS: Mean follow-up post knee arthroplasty surgery was 7.6 years (range 1.2-20.3) in the cartilage cohort and 8.1 (range 1.0-20.9) in the control group. The responding patients were at the time of surgery 54.3 versus 59.0 years in the cartilage and control group, respectively. At follow-up the control group demonstrated higher adjusted Knee Injury and Osteoarthritis Outcome subscores than the previous focal cartilage patients with a mean adjusted difference (95% confidence interval in parentheses): Symptoms 8.4 (0.3, 16.4), Pain 11.8 (2.2, 21.4), Activities of daily living (ADL) 9.3 (-1.2, 18.6), Sport and recreation 8.9 (-1.6, 19.4) and Quality of Life (QoL) 10.6 (0.2, 21.1). The control group also demonstrated higher odds of reaching the patient-acceptable symptom state threshold for the Knee Injury and Osteoarthritis Outcome subscores with odds ratio: Symptoms 2.7 (1.2, 6.4), Pain 3.0 (1.3, 7.0), ADL 2.1 (0.9, 4.6) and QoL 2.4 (1.0, 5.5). CONCLUSION: Previous cartilage surgery was associated with inferior patient-reported outcomes after knee arthroplasty. These patients also exhibited significantly lower odds of reaching the patient-acceptable symptom state threshold for the Knee Injury and Osteoarthritis Outcome subscores. LEVEL OF EVIDENCE: Level III.

The Delaware-Oslo ACL Cohort treatment algorithm yields superior outcomes to usual care 9-12 years after anterior cruciate ligament reconstruction.

PURPOSE: Patient-reported outcomes were compared between participants who followed the treatment algorithm of the Delaware-Oslo ACL Cohort, consisting of progressive preoperative and postoperative rehabilitation, patient education, clinical testing and shared decision-making about treatment choice, and those who followed usual care 9-12 years after anterior cruciate ligament reconstruction (ACLR). METHODS: Participants with primary ACLR were included from the Norwegian arm of the Delaware-Oslo ACL Cohort and the Norwegian Knee Ligament Registry (usual care). The Knee Injury and Osteoarthritis Outcome Score (KOOS) subscale scores and the International Knee Documentation Committee-Subjective Knee Form (IKDC-SKF) scores were compared. KOOS scores for the usual care group were converted to IKDC-SKF scores with recently published validated crosswalk. The percentages of participants with scores above predefined thresholds for patient acceptable symptom state (PASS) were also calculated. RESULTS: Eighty of 100 (80%) participants from the Delaware-Oslo ACL Cohort and 1588 of 3248 (49%) from the usual care group participated in the follow-up. Participants from the Delaware-Oslo ACL Cohort had higher KOOS subscale (p < 0.001) and IKDC-SKF scores (p < 0.001), and a higher percentage reached PASS (84%-96% vs. 62%-76%, p ≤ 0.002) for KOOS Pain, symptoms, activities of daily living and sports compared to the usual care group. No significant differences were found for KOOS quality of life scores (not significant [n.s.]) or PASS percentages (80% vs. 74%, n.s.). CONCLUSION: Participants with ACLR who followed the Delaware-Oslo ACL Cohort treatment algorithm had reduced knee symptoms, superior function and higher percentages of satisfactory outcomes than participants who followed usual care. LEVEL OF EVIDENCE: Level II.

Characterization of POLE c.1373A > T p.(Tyr458Phe), causing high cancer risk.

The cancer syndrome polymerase proofreading-associated polyposis results from germline mutations in the POLE and POLD1 genes. Mutations in the exonuclease domain of these genes are associated with hyper- and ultra-mutated tumors with a predominance of base substitutions resulting from faulty proofreading during DNA replication. When a new variant is identified by gene testing of POLE and POLD1, it is important to verify whether the variant is associated with PPAP or not, to guide genetic counseling of mutation carriers. In 2015, we reported the likely pathogenic (class 4) germline POLE c.1373A > T p.(Tyr458Phe) variant and we have now characterized this variant to verify that it is a class 5 pathogenic variant. For this purpose, we investigated (1) mutator phenotype in tumors from two carriers, (2) mutation frequency in cell-based mutagenesis assays, and (3) structural consequences based on protein modeling. Whole-exome sequencing of two tumors identified an ultra-mutator phenotype with a predominance of base substitutions, the majority of which are C > T. A SupF mutagenesis assay revealed increased mutation frequency in cells overexpressing the variant of interest as well as in isogenic cells encoding the variant. Moreover, exonuclease repair yeast-based assay supported defect in proofreading activity. Lastly, we present a homology model of human POLE to demonstrate structural consequences leading to pathogenic impact of the p.(Tyr458Phe) mutation. The three lines of evidence, taken together with updated co-segregation and previously published data, allow the germline variant POLE c.1373A > T p.(Tyr458Phe) to be reclassified as a class 5 variant. That means the variant is associated with PPAP.

Surveillance of athlete mental health symptoms and disorders: a supplement to the International Olympic Committee's consensus statement on injury and illness surveillance.

In 2019, the International Olympic Committee (IOC) published a consensus statement outlining the principles for recording and reporting injury and illness in elite sport. The authors encouraged sport federations to adapt the framework to their sport-specific context. Since this publication, several sports have published extensions to the IOC consensus statement.In response to a paucity of epidemiological data on athlete mental health, the IOC mental health working group adapted the IOC consensus statement on injury and illness surveillance to improve the capturing of athlete mental health data. In addition to the members of the working group, other experts and athlete representatives joined the project team to address gaps in expertise, and to add stakeholder perspective, respectively. Following an in-person meeting, the authors worked remotely, applying the scientific literature on athlete mental health to the IOC injury and illness surveillance framework. A virtual meeting was held to reach consensus on final recommendations.Practical outcomes based on the analysis of the scientific literature are provided with respect to surveillance design, data collection and storage, data analysis and reporting of athlete mental health data. Mental health-specific report forms for athlete and health professional utilisation are included for both longitudinal and event-specific surveillance.Ultimately, this publication should encourage the standardisation of surveillance methodology for mental health symptoms and disorders among athletes, which will improve consistency in study designs, thus facilitating the pooling of data and comparison across studies. The goal is to encourage systematic surveillance of athlete mental health.

Olympic Games during nationwide lockdown: sports injuries and illnesses, including COVID-19, at the Beijing 2022 Winter Olympics.

OBJECTIVE: The objective of this study is to describe the incidence of injuries and illnesses sustained during the Beijing Winter Olympic Games from 4 February 2022 to 20 February 2022. METHODS: We recorded the daily number of athlete injuries and illnesses (1) through the reporting of all National Olympic Committee (NOC) medical teams and (2) in the polyclinic and medical venues by the Beijing 2022 medical staff. RESULTS: In total, 2848 athletes (1276 women, 45%; 1572 men, 55%) from 91 NOCs were followed prospectively for the occurrence of injury and illness. NOC and Beijing 2022 medical staff reported 289 injuries and 109 illnesses, equalling 10.1 injuries and 3.8 illnesses per 100 athletes over the 17-day period. The injury incidence was highest in ski halfpipe (30%), ski big air (28%), snowboard slopestyle (23%) and ski slopestyle (22%), and lowest (1%-2%) in curling, alpine mixed team parallel slalom, Nordic combined and alpine super-G. The illness incidence was highest in ski aerials (10%), skeleton (8%), cross-country skiing (8%) and Nordic combined (7%). In the study period, COVID-19 affected 32 athletes, accounting for 29% of all illnesses affecting 1.1% of all athletes. CONCLUSION: Overall, 10% of the athletes incurred an injury and 4% an illness during the Beijing Winter Olympic Games. The incidence of illnesses overall, which was the lowest yet recorded in the Winter Olympic Games, and COVID-19 was mitigated through comprehensive countermeasures.

2023 International Olympic Committee's (IOC) consensus statement on Relative Energy Deficiency in Sport (REDs).

Relative Energy Deficiency in Sport (REDs) was first introduced in 2014 by the International Olympic Committee's expert writing panel, identifying a syndrome of deleterious health and performance outcomes experienced by female and male athletes exposed to low energy availability (LEA; inadequate energy intake in relation to exercise energy expenditure). Since the 2018 REDs consensus, there have been >170 original research publications advancing the field of REDs science, including emerging data demonstrating the growing role of low carbohydrate availability, further evidence of the interplay between mental health and REDs and more data elucidating the impact of LEA in males. Our knowledge of REDs signs and symptoms has resulted in updated Health and Performance Conceptual Models and the development of a novel Physiological Model. This Physiological Model is designed to demonstrate the complexity of either problematic or adaptable LEA exposure, coupled with individual moderating factors, leading to changes in health and performance outcomes. Guidelines for safe and effective body composition assessment to help prevent REDs are also outlined. A new REDs Clinical Assessment Tool-Version 2 is introduced to facilitate the detection and clinical diagnosis of REDs based on accumulated severity and risk stratification, with associated training and competition recommendations. Prevention and treatment principles of REDs are presented to encourage best practices for sports organisations and clinicians. Finally, methodological best practices for REDs research are outlined to stimulate future high-quality research to address important knowledge gaps.

IOC consensus statement on recommendations and regulations for sport events in the heat.

This document presents the recommendations developed by the IOC Medical and Scientific Commission and several international federations (IF) on the protection of athletes competing in the heat. It is based on a working group, meetings, field experience and a Delphi process. The first section presents recommendations for event organisers to monitor environmental conditions before and during an event; to provide sufficient ice, shading and cooling; and to work with the IF to remove regulatory and logistical limitations. The second section summarises recommendations that are directly associated with athletes' behaviours, which include the role and methods for heat acclimation; the management of hydration; and adaptation to the warm-up and clothing. The third section explains the specific medical management of exertional heat stroke (EHS) from the field of play triage to the prehospital management in a dedicated heat deck, complementing the usual medical services. The fourth section provides an example for developing an environmental heat risk analysis for sport competitions across all IFs. In summary, while EHS is one of the leading life-threatening conditions for athletes, it is preventable and treatable with the proper risk mitigation and medical response. The protection of athletes competing in the heat involves the close cooperation of the local organising committee, the national and international federations, the athletes and their entourages and the medical team.

Epidemiology of International Match Injuries in Scottish Rugby: A Prospective Cohort Study.

Fifteen-a-side rugby union ("rugby") is a full-contact sport played separately by men and women, with large injury incidences reported previously. Context specific injury surveillance fulfils governing bodies' duty of care to understand risks to player welfare, yet no contemporary match injury epidemiology studies exist for international players in Scotland. The current study therefore aimed to describe the incidence, severity, burden and nature of match injuries sustained by Scotland's men's and women's national teams. A prospective cohort study of injuries recorded in matches across the 2017/18 and 2018/19 seasons was undertaken, with injury and exposure definitions in line with the international consensus for injury surveillance in rugby. Injury incidence was 120.0 (men) and 166.7/1,000 player match hours (women), injury severity was 12.0 (median) and 31.2 days (mean) for men, and 11.0 (median) and 30.2 days (mean) for women. Injury burden was 3,745 (men) and 5,040 days absence/1,000 player match hours (women). Concussion was the most common specific injury for men (22.5/1,000 hours) and women (26.7/1,000 hours). No statistical differences were found for incidence or severity measures between sexes. Injury incidence was greater than recent Rugby World Cup studies. High incidences of concussion reinforces the need for prevention strategies targeting this injury.