Musculoskeletal Soft Tissue Research Articles

The Added Diagnostic Value of Shear Wave Elastography to Differentiate between Benign and Malignant Musculoskeletal Soft Tissue Tumors

The Added Diagnostic Value of Shear Wave Elastography to Differentiate between Benign and Malignant Musculoskeletal Soft Tissue Tumors

Added Value of Diffusion-Weighted Magnetic Resonance Imaging in Evaluation of Musculoskeletal Soft Tissue Masses

Abstract Background Magnetic Resonance Imaging is the method of choice for the diagnostic work- up of soft tissue tumors. It is the modality of choice to evaluate such masses, because of its excellent soft tissue contrast. Although there are some findings are indicative for malignancy, such as infiltration of adjacent tissues, destruction of bones and tendons, and the size of the mass, there are no criteria available to clearly distinguish benign masses from malignancies. Aim of the Work To evaluate the added value of diffusion-weighted magnetic resonance imaging in detection and characterization of musculoskeletal soft tissue masses. Patients and Methods This study is a cross-section hospital based retrospective study. This study conducted at Ain Shams University Hospitals. The main source of data for this study was the PET/CT scans and clinical history of the patients referred to the department of Radiology, Ain Shams University Hospitals and the period of the study is 12 months. Results Mean of enrolled patients was 37.1 ± 18.0 years and majority (72%) of them was females. It was noticed that thigh (28%) was frequently affect in the those patients followed by the leg (20%). Mean size of these masses was 101.14 ± 78.87 mm. based on histopathological evaluation of these mass; 15 (60%) masses were benign while malignant mass present in 10 (40%). Lipoma and Dermoid fibromatosis were the most frequent tumors in the current study (12%) following by Neurofibroma, Osteosarcoma, Sarcoma and Synovial sarcoma each one of them is (8%). Patients with malignant lesions had significantly lower ADC value in comparison to those with benign lesions (0.78 ± 0.09 vs. 1.56 ± 0.55 (10-3 mm2/s). Haemangiomas had the highest ADC value that was (2.35 ×10 − 3mm2/s.) while sarcoma had lowest value that was 0.54 ± 0.03 (103 mm2/s). It was noticed that MRI had 100% sensitivity and 93.3% specificity for diagnosis of malignant musculoskeletal soft tissue masses with overall accuracy was 96% and area under curve was 0.96 at cut off value was < 1.14 (103 mm2/s). Based on final diagnosis; MRI was successful in diagnosis of all cases with malignant musculoskeletal soft tissue masses but as the same time, MRI falsely diagnosed one case with benign nature to be malignant. Those one case was finally diagnosed to be lipoma. Conclusion The ability to differentiate benign musculoskeletal soft tissue tumors from malignant disease is limited clinically. Magnetic resonance imaging is an established modality for comprehensive diagnosis of musculoskeletal tumor. A non-invasive technique is needed to obtain information about the function of the tissue of interest. Diffusion-weighted (DW) MRI is an advanced technique used in combination with MRI to improve its diagnostic accuracy.

MUsculo-Skeleton-Aware (MUSA) deep learning for anatomically guided head-and-neck CT deformable registration

Deep-learning-based deformable image registration (DL-DIR) has demonstrated improved accuracy compared to time-consuming non-DL methods across various anatomical sites. However, DL-DIR is still challenging in heterogeneous tissue regions with large deformation. In fact, several state-of-the-art DL-DIR methods fail to capture the large, anatomically plausible deformation when tested on head-and-neck computed tomography (CT) images. These results allude to the possibility that such complex head-and-neck deformation may be beyond the capacity of a single network structure or a homogeneous smoothness regularization. To address the challenge of combined multi-scale musculoskeletal motion and soft tissue deformation in the head-and-neck region, we propose a MUsculo-Skeleton-Aware (MUSA) framework to anatomically guide DL-DIR by leveraging the explicit multiresolution strategy and the inhomogeneous deformation constraints between the bony structures and soft tissue. The proposed method decomposes the complex deformation into a bulk posture change and residual fine deformation. It can accommodate both inter- and intra- subject registration. Our results show that the MUSA framework can consistently improve registration accuracy and, more importantly, the plausibility of deformation for various network architectures. The code will be publicly available at https://github.com/HengjieLiu/DIR-MUSA.

Associations of collagen type 1 α1 gene polymorphisms and musculoskeletal soft tissue injuries: a meta-analysis with trial sequential analysis.

Numerous studies have investigated the role of collagen type 1 α1 (COL1A1) polymorphisms in musculoskeletal soft tissue injuries (MSTIs), yielding conflicting results. This study was designed to synthesize existing evidence and clarify the relationship between COL1A1 polymorphisms and MSTI susceptibility. We conducted a comprehensive literature search using PubMed, Cochrane Library, Web of Science, EMBASE, and Wanfang databases. Associations were assessed using odds ratios (ORs) with 95% confidence intervals (95% CIs) across five genetic models. Subgroup analyses were performed based on ethnicity and injury type. Additionally, trial sequential analysis (TSA) was utilized to assess information size and statistical power. We analyzed a total of 16 articles from 358 retrieved studies, encompassing 2094 MSTI cases and 4105 controls. Our pooled data revealed that individuals with the TT genotype of the rs1800012 polymorphism had a significantly reduced risk of MSTIs (TT vs. GG, OR = 0.53, 95% CI 0.35-0.82, P = 0.004; TT vs. TG + GG, OR = 0.54, 95% CI 0.36-0.80, P = 0.002). Ethnicity-based stratification showed a significant association in Caucasians but not Asians. However, no significant association was observed between the rs1107946 polymorphism and MSTIs, regardless of ethnicity or injury type. TSA indicated that the sample sizes may have been insufficient to yield conclusive results. In conclusion, our study supports the protective effect of the TT genotype of the rs1800012 polymorphism against MSTIs, particularly among Caucasians. However, the rs1107946 polymorphism does not appear to influence MSTI susceptibility.

The effect of gadolinium-based intravenous contrast in the initial characterization of musculoskeletal soft tissue tumors

ObjectiveTo determine if gadolinium-based contrast agents increase the sensitivity, specificity or reader confidence of malignant potential in musculoskeletal soft tissue tumors. MethodsPre- and post-contrast MRI studies from 87 patients were read by three independent radiologists of different experience. Readers noted malignant potential and confidence in their diagnosis based on pre-contrast and post-contrast MRI studies. Statistical models assessed for agreement between MRI reader diagnosis and pathologic results as well as analyzing effects of contrast on reader confidence. Inter- and intra-observer variabilities of malignant potential were also calculated. Results87 patients (48 benign and 39 malignant; mean [± SD] age 51 ± 17.9 and 57.1 ± 17.1, respectively) were evaluated. For all readers, pre-contrast and post-contrast sensitivities were 68.1 % and 70.6 % while pre-contrast and post-contrast specificities were 84.6 % and 83.8 %, respectively without significant change (p=0.88). There was not a significant association with the use of contrast and prediction of malignant potential with or without the resident reader (p=0.65 and p=0.82). Use of contrast was significantly associated with higher levels of reader confidence (p=0.02) for all readers. Inter- and intra-observer variabilities were in good agreement (W = 0.77 and 0.70). ConclusionThe addition of a post-contrast sequence increased reader confidence in their diagnosis without a corresponding significant increase in accurate prediction of malignant potential.

Epidemiology and clinical spectrum of melioidosis: Analysis of cases from a tertiary care centre in southern Tamil Nadu.

Background We studied the clinical features and treatment outcome of patients with melioidosis in our hospital. Methods We did this retrospective observational chart review over a period of 7 years between December 2014 and February 2022. Results There were 59 cases and 23 deaths attributable to melioidosis over the study period. The age range was 5 to 74 years and 48 (81.3%) were men. The comorbid conditions included diabetes mellitus (68%), alcoholism (11.8%), pulmonary tuberculosis (6.7%) and chronic kidney disease (5%). Over three-fourths of patients (78%) presented during the rainy season (June to December) and were acute presentations (44 [75%]). The most common sites were liver and spleen, followed by the musculoskeletal system, skin, soft tissues, lungs and brain. Of the 21 (36%) patients with septic shock, 16 (76%) died. On the contrary, of 38 (64%) patients without septic shock, only 11% died. Of the 27 (47%) admitted to ICU, 11 (41%) died. In ICU, 18 (67%) were ventilated. Of the 23 (39%) deaths overall, median time from admission to death was 4 days. There were no relapses in the 42% patients followed up for 2-6 months. Conclusions The epidemiology of melioidosis is similar to other endemic areas with preponderance of men. There was a temporal association with the monsoon season and a higher number of acute cases. The differences included a higher proportion of deep visceral abscesses and musculo-skeletal involvement compared to lung involvement.

Characteristics and Role of Apparent Diffusion Coefficient (ADC) Value in Musculoskeletal Soft Tissue Tumor

Introduction: Musculoskeletal soft tissue tumors (STTs) consist of a group of malignant and benign tumors that present challenges in diagnosis and therapy. Adding diffusion-weighted imaging and apparent diffusion coefficient (DWI/ADC) ​​provides tissue characteristics that are different from those obtained by conventional MR techniques. Quantitative examination of the diffusion of water molecules in tissue is expressed as ADC value, which is expected to be more helpful in differentiating malignant and benign soft tissue masses. This study was carried out to determine the characteristics and role of ADC values ​​in musculoskeletal STTs. Methods: This research was conducted retrospectively. Analysis was performed using MRI results of patients with musculoskeletal STTs who met the inclusion and exclusion criteria. Three regions of interest (ROI) were assessed in the tumor area with the strongest contrast enhancement for DWI mapping, ADC, and ROI ADC value placement. An Independent T-test test was performed to determine the mean difference of ADC in each tumor category. Receiver Operating Characteristics (ROC) were generated to find the optimal cut-off value. Then, a diagnostic test was carried out to determine the sensitivity, specificity, PPV, and NPV of the ADC value. Results: There were 41 research subjects with musculoskeletal STTs with male predominance, in which 75.61% of cases were malignant. DWI/ADC showed that 78.05% of patients with musculoskeletal soft tissue tumors had restricted diffusion areas. In this study, the ADC cutoff value to differentiate benign and malignant musculoskeletal STT is 0,84 x 10-3mm2/s with 77.4% sensitivity and 90% specificity, 96% positive predictive value and 56.3% negative predictive value. Conclusion: In differentiating malignant and benign musculoskeletal STTs, the ADC value provides fair sensitivity, very good specificity, good positive predictive value, and low negative predictive value.

Augmentation of musculoskeletal soft tissue morphology within low back pain patients may suggest the presence of physiological stress shielding: An in vivo study

IntroductionThe pathomechanism of low back pain (LBP) remains unknown. However, changes to mechanical properties of soft tissues affected by LBP may indicate the presence of stress shielding, which may manifest via tissue remodeling. This study investigates the potential for physiological stress shielding within the lumbar spine by examining differences within lumbar soft tissue morphology between control and LBP subjects. MethodsThrough MRI, the total and functional cross-sectional area (tCSA, fCSA) and fatty infiltration (FI) of the lumbar multifidus (MF), erector spinae (ES), quadratus lumborum (QL), psoas major (PM), and thoracolumbar fascia (TLF) were measured from the L1/L2 to L5/S1 intervertebral disc levels of 69 subjects (36 LBP and 33 control subjects). Statistical analysis was conducted using Mann-Whitney U. P < 0.05 denoted significance. ResultsComparison of male LBP patients and male healthy controls yielded an increase in tCSA and fCSA within the L4/L5 PM (p < 0.01), and the L4/L5 ES (p = 0.02) and PM (p < 0.01), respectively, of LBP patients. Female LBP patients’ FI compared to female controls increased within the L1/L2 MF (p = 0.03), L3/L4 MF (p = 0.04) and ES (p = 0.02), and L4/L5 QL (p = 0.01). The L3/L4 TLF also demonstrated an 8% increase in LBP subjects. ConclusionMale patients’ results suggest elevated tissue loading during motion yielding hypertrophy in the L4/L5 ES and PM fCSA, and PM tCSA. Female LBP patients’ MF, ES, and PM at L3/L4 demonstrating elevated FI coupled with TLF tCSA hypertrophy may suggest irregular stress distributions and lay the foundation for stress shielding within musculoskeletal soft tissues.

Clinical and instrumental features of vertebrogenic lumbosacral pathology in machine milking operators

In the structure of occupational pathology, female workers of modern agricultural production, along with diseases of the musculoskeletal system and soft tissues of the upper extremities, vertebrogenic lesions of the lumbosacral level have become more often diagnosed. The aim of the study was to study the features of vertebrogenic pathology of the lumbosacral region with the analysis of radiological and electroneuromyographic data in machine milking operators of the Republic of Bashkortostan. The following results were obtained. On radiographs of the lumbosacral spine, degenerative-dystrophic changes in the form of a decrease in the height of discs, spondylosis, spondyloarthrosis were noted in machine milking operators. Electroneuromyographic criteria revealed a decrease in amplitude and velocity parameters of conduction along the peripheral nerves of the lower extremities. The revealed changes in vertebrogenic lumbosacral pathology in the examined patients make it possible to ensure timely diagnosis and prevention of production-related pathology with the formation of rational schemes of therapeutic and recreational measures.

High-resolution ultrasound in the evaluation of musculoskeletal infections.

Soft tissue and osseous musculoskeletal infections are common but can be difficult to diagnose clinically. Signs, symptoms, and physical examination findings may be nonspecific, and laboratory values can be inconclusive. The extent of disease may also be underestimated on physical examination. Soft tissue infections most commonly occur secondary to direct inoculation from broken skin and less frequently due to the seeding of the soft tissues from hematogenous spread, while osseous infections are more commonly due to hematogenous seeding. Infections may also be iatrogenic, following surgery or other procedural interventions. High-resolution ultrasound is an extremely useful imaging modality in the evaluation of musculoskeletal soft tissue and joint infections, and can occasionally be used to evaluate osseous infections as well. Ultrasound can aid in the early diagnosis of musculoskeletal infections, allowing for prompt treatment, decreased risk of complications, and treatment optimization. Ultrasound is sensitive and specific in evaluating soft tissue edema and hyperemia; soft tissue abscesses; joint, bursal and tendon sheath effusions/synovitis; and subperiosteal abscesses. This article describes the typical high-resolution grayscale as well as color and power Doppler ultrasound imaging findings of soft tissue infections including cellulitis, fasciitis, necrotizing deep soft tissue infection, pyomyositis, soft tissue abscess, infectious bursitis, and infectious tenosynovitis. Ultrasound findings of septic arthritis as well as osteomyelitis, such as subperiosteal spread of infection (subperiosteal abscess). are also reviewed. In addition, the use of ultrasound to guide fluid and tissue sampling is discussed.

Thermal ablation of metastatic disease to the musculoskeletal system

A variety of indications have been published regarding the use of percutaneous thermal ablation for treating tumors of the musculoskeletal system, including bone and soft tissue lesions, benign and malignant lesions, and primary and metastatic tumors. In the appropriately selected patient, the advantages of percutaneous thermal ablation include decreased morbidity, decreased cost, and shorter hospitalization stays compared to surgery. The number of different thermal ablation modalities is increasing, and each modality has its advantages and disadvantages. Studies directly comparing the effectiveness of the various thermal ablation modalities are sparse, however, so the choice of ablation modality often depends on availability, user preference, and local expertise. Although the list of uses for percutaneous thermal ablation is ever-expanding, in this article, we will discuss the two most well-established indications, which are palliation of pain attributed to bone and soft tissue metastases and local control of oligometastatic disease. Numerous clinical trials have shown percutaneous thermal ablation to be an effective method of palliating pain due to bone and soft tissue metastases and of achieving local control in the setting of oligometastatic disease with low rates of complication.

The COL27A1 and COL11A1 gene variants are not associated with the susceptibility to anterior cruciate ligament rupture in Polish athletes

Introduction: Sports injuries are the most common cause of anterior cruciate ligament (ACL) ruptures. Previous research has demonstrated links between some of the COL27A1 and COL11A1 genetic variants and musculoskeletal soft tissue injuries. However, no previous research has investigated the COL27A1 rs1570460 and the COL11A1 rs3753841 in the context of ACL rupture in any population. Thus, our study aimed to assess the association between specific single nucleotide polymorphisms (SNPs), i.e., COL27A1 rs946053 and COL11A1 rs3753841, and the occurrence of ACL injury (ACL-I) in a cohort of Polish athletes. Methods: The study enrolled 233 athletes with ACL-I (161 males and 71 females) and 228 healthy control athletes (143 males and 85 females) with no prior ACL-I history. Genotyping was conducted to assess the presence of COL27A1 rs946053 and COL11A1 rs3753841 genetic variants. Statistical analyses were performed using the R programming environment and package, and an association between SNPs and ACL-I was tested in four genetic models: dominant, co-dominant recessive, and over-dominant. Results: All the analyzed polymorphisms conformed to Hardy-Weinberg equilibrium (HWE). The study revealed no significant differences between the ACL-I and control groups. Conclusions: Despite the absence of significant associations between the investigated SNPs and ACL-I in this study, our findings highlight the importance of continued research to unravel the precise genetic risk mechanisms and etiological factors contributing to ACL-I.

The New Ice Age of Musculoskeletal Intervention: Role of Percutaneous Cryoablation in Bone and Soft Tissue Tumors.

In the rapidly evolving field of interventional oncology, minimally invasive methods, including CT-guided cryoablation, play an increasingly important role in tumor treatment, notably in bone and soft tissue cancers. Cryoablation works using compressed gas-filled probes to freeze tumor cells to temperatures below -20 °C, exploiting the Joule-Thompson effect. This cooling causes cell destruction by forming intracellular ice crystals and disrupting blood flow through endothelial cell damage, leading to local ischemia and devascularization. Coupling this with CT technology enables precise tumor targeting, preserving healthy surrounding tissues and decreasing postoperative complications. This review reports the most important literature on CT-guided cryoablation's application in musculoskeletal oncology, including sarcoma, bone metastases, and bone and soft tissue benign primary tumors, reporting on the success rate, recurrence rate, complications, and technical aspects to maximize success for cryoablation in the musculoskeletal system.

Accuracy of Time to Treatment Initiation Data in Musculoskeletal Soft Tissue Sarcoma.

Time to treatment initiation (TTI) is a quality metric in cancer care. The purpose of this study is to determine the accuracy of TTI data from a single cancer center registry that reports to the National Cancer Database (NCDB) for sarcoma diagnoses. A retrospective analysis of a single Commission on Cancer (CoC)-accredited cancer center's tumor registry between 2006 and 2016 identified 402 patients who underwent treatment of a musculoskeletal soft tissue sarcoma and had TTI data available. Registry-reported TTI was extracted from the tumor registry. Effective TTI was manually calculated by medical record review as the number of days from the date of tissue diagnosis to initiation of first effective treatment. Effective treatment was defined as oncologic surgical excision or initiation of radiation therapy or chemotherapy. Registry-reported TTI and effective TTI values were compared for concordance in all patients. In the entire cohort, 25% (99/402) of patients had TTI data discordance, all related to surgical treatment definition. For patients with a registry-reported value of TTI = 0 days, 74% (87/118) had a diagnostic surgical procedure coded as their first treatment event, with 73 unplanned incomplete excision procedures and 14 incisional biopsies. In these patients, effective TTI was on average 59 days (P < 0.001). For patients with a registry-reported value of TTI >0 days, only 4% (12/284) had discordant TTI values. Nearly three-fourths of patients with a registry-reported value of TTI = 0 days in a large, CoC-accredited cancer center registry had a diagnostic procedure coded as their first treatment event, though their effective treatment had not yet started. These data suggest that TTI is likely longer than what is reported to the NCDB. Redefinition of what constitutes surgical treatment should be considered to improve the accuracy of data used in measuring TTI in sarcoma.

Usefulness of MRI-Based Local Surveillance After Surgical Treatment of Musculoskeletal Soft-Tissue Sarcomas: A Systematic Review and Meta-Analysis.

BACKGROUND. The value of routine MRI follow-up after surgical treatment of musculoskeletal soft-tissue sarcoma (STS) is controversial. OBJECTIVE. The purpose of this study was to evaluate the usefulness of MRI-based surveillance for musculoskeletal STS represented by the proportion of local recurrences (LRs) discovered by MRI versus clinically, stratified by imaging surveillance intensity; the characteristics of LRs detected on imaging versus clinically; and the impact of imaging surveillance on survival. EVIDENCE ACQUISITION. Multiple electronic databases were searched systematically for articles published through November 28, 2022, about controlled trials and cohort studies on the usefulness of MRI-based surveillance for musculoskeletal STS. The risk of bias was assessed using an adapted Newcastle-Ottawa scale. Random-effects meta-analyses of the proportion of LRs discovered by MRI as opposed to clinically were conducted. The association of low- versus high-intensity surveillance with the proportion of LR detected on MRI was assessed with a chi-square test of subgroup differences; for this latter assessment, high intensity was defined as at least one local surveillance imaging examination for low-risk tumors and at least three imaging examinations for high-risk tumors during the first 2 posttreatment years. EVIDENCE SYNTHESIS. A total of 4821 titles and abstracts were identified, and 19 studies were included. All studies were retrospective cohorts. There was substantial variability in follow-up approaches. The risk of bias was moderate in 32% and high in 68% of studies. The pooled proportion of LRs detected on MRI was 53% (95% CI, 36-71%) with high-intensity surveillance and 6% (95% CI, 3-9%) with low-intensity surveillance (p < .01). Comparison of LR characteristics (LR size, depth, grade, location, resection margins) detected on imaging versus clinically identified inconsistent results between studies. Trends toward better survival for imaging-detected LRs or more frequent imaging use were noted in four studies. CONCLUSION. When used at a high intensity, MRI-based surveillance can detect many clinically occult LRs, although the studies are small, occasionally yielded conflicting results, and are often of poor quality. A survival benefit could be associated with imaging use, but further research is needed to evaluate the causality of any observed survival differences. CLINICAL IMPACT. MRI-based surveillance after surgical treatment of musculoskeletal STS is useful to detect clinically occult LRs and could improve patient outcomes.

A Stretchable Strain Sensor System for Wireless Measurement of Musculoskeletal Soft Tissue Strains

AbstractMeasurement of in vivo strain patterns of musculoskeletal soft tissues (MSTs) during functional activities reveals their biomechanical function, supports the identification and understanding of pathologies, and quantifies tissue adaptation during healing. These scientific and clinical insights have motivated the development and application of various strain sensors to quantify MST strains in either intraoperative or dynamic in vivo conditions. In this study, a strain sensor system is developed based on stretchable electronics and radio frequency identification technologies. In this system, a flexible inductor‐capacitor‐resistor sensor is fabricated such that it can be wirelessly excited by a custom‐designed readout box through electronic resonance. The resonant frequency of the sensor changes when the capacitor is stretched, which is then also recorded by the readout box at a sampling rate of 1024 Hz. Suturing the stretchable capacitor onto the MST allows it to be stretched in line with musculoskeletal deformations, hence providing an indirect method to assess strain patterns in vivo. Application of the system ex vivo indicates that the signal remains linear between 0 and 25% strain and is electronically stable in a simulated in vivo environment for one week and over 100 000 cycles of fatigue loadings. The strain sensor exhibits excellent resolution (0.1% strain, ≈9 µm) during wireless strain measurement. Finally, sensor implantation and strain measurement onto the medial gastrocnemius tendon of a sheep indicate that the sensor is able to record repetitive strain patterns in vivo during dynamic movements. This study indicates the potential scientific and clinical applicability in vivo.

Abstract 932: Snapshot! Exploring sample diversity of sarcoma cancers across common data repositories

Abstract Sarcoma is a cancer which originates in the body's connective tissues of mesenchymal origin. These are tissues like bones and muscles that support or protect other parts of the body. About ~16,000 sarcomas are diagnosed annually in the US, with ~6,700 deaths attributed to the disease. Sarcomas are typically divided into two major groups: bone sarcomas and soft-tissue sarcomas, each of which has multiple subtypes. However, because of their diversity in site-of-origin, sarcomas vary greatly in their presentation and histological features. Based on The World Health Organization’s (WHO) current classification system that categorizes musculoskeletal soft tissue tumours (STT) and bone tissue tumours, there are 50+ subtypes of sarcoma recognized today. Unsurprisingly, given the relative rarity of sarcoma type tumors, sample procurement has proved a challenge for the field. Consequently, there currently exist major gaps in our understanding of the genetic and molecular hallmarks of various sarcoma subtypes. Here we examine the sample and subtype classifications of sarcoma across some of the major DNA sequencing studies and data repositories to provide an overview of the available sample space. We highlight areas where the sample procurement is lagging and discuss subtypes that are missing all-together. Inclusion of some of the major genomic correlates showcases some of the similarities shared by these sequencing efforts, while emphasizing key genetic differences between subtypes. This work provides a clear roadmap for clinicians on how to best prioritize future sarcoma sample procurement and sequencing. Citation Format: Alfredo Enrique Gonzalez, Yash Patel, Chenghao Zhu, Takafumi N. Yamaguchi, Mao Tian, Sarah Hiyari, Ahmad A. Shihabi, Stefan Eng, Helena Winata, Jaron Arbert, Arpi Beshlikyan, Ardalan Davarifar, Alice Soragni, Paul C. Boutros. Snapshot! Exploring sample diversity of sarcoma cancers across common data repositories [abstract]. In: Proceedings of the American Association for Cancer Research Annual Meeting 2023; Part 1 (Regular and Invited Abstracts); 2023 Apr 14-19; Orlando, FL. Philadelphia (PA): AACR; Cancer Res 2023;83(7_Suppl):Abstract nr 932.

Application of an in silico approach identifies a genetic locus within ITGB2, and its interactions with HSPG2 and FGF9, to be associated with anterior cruciate ligament rupture risk

ABSTRACT We developed a Biomedical Knowledge Graph model that is phenotype and biological function-aware through integrating knowledge from multiple domains in a Neo4j, graph database. All known human genes were assessed through the model to identify potential new risk genes for anterior cruciate ligament (ACL) ruptures and Achilles tendinopathy (AT). Genes were prioritised and explored in a case–control study comparing participants with ACL ruptures (ACL-R), including a sub-group with non-contact mechanism injuries (ACL-NON), to uninjured control individuals (CON). After gene filtering, 3376 genes, including 411 genes identified through previous whole exome sequencing, were found to be potentially linked to AT and ACL ruptures. Four variants were prioritised: HSPG2:rs2291826A/G, HSPG2:rs2291827G/A, ITGB2:rs2230528C/T and FGF9:rs2274296C/T. The rs2230528 CC genotype was over-represented in the CON group compared to ACL-R (p < 0.001) and ACL-NON (p < 0.001) and the TT genotype and T allele were over-represented in the ACL-R group and ACL-NON compared to CON (p < 0.001) group. Several significant differences in distributions were noted for the gene-gene interactions: (HSPG2:rs2291826, rs2291827 and ITGB2:rs2230528) and (ITGB2:rs2230528 and FGF9:rs2297429). This study substantiates the efficiency of using a prior knowledge-driven in silico approach to identify candidate genes linked to tendon and ACL injuries. Our biomedical knowledge graph identified and, with further testing, highlighted novel associations of the ITGB2 gene which has not been explored in a genetic case control association study, with ACL rupture risk. We thus recommend a multistep approach including bioinformatics in conjunction with next generation sequencing technology to improve the discovery potential of genomics technologies in musculoskeletal soft tissue injuries. Highlights A biomedical knowledge graph was modelled for musculoskeletal soft tissue injuries to efficiently identify candidate genes for genetic susceptibility analyses. The biomedical knowledge graph and sequencing data identified potential biologically relevant variants to explore susceptibility to common tendon and ligament injuries. Specifically genetic variants within the ITGB2 and FGF9 genes were associated with ACL risk. Novel allele combinations (HSPG2-ITGB2 and ITGB2-FGF9) showcase the potential effect of ITGB2 in influencing risk of ACL rupture.

THE EFFECTIVENESS OF INSTRUMENT-ASSISTED SOFT TISSUE MOBILIZATION TECHNIQUE ON MUSCULOSKELETAL SOFT TISSUE INJURIES: A SYSTEMATIC REVIEW AND META-ANALYSIS

Objective: This systematic review and meta-analysis was conducted to determine the impact of IASTM on musculoskeletal soft tissue injuries. Materials and Methods: In order to find terms like “instrument,” “assisted,” “soft tissue dysfunction AND wrist, back, elbow, knee, ankle and foot”, “interventions AND IASTM,” studies from conception to December 2021 were systematically analyzed across seven electronic databases: Medline, PubMed, Cochrane Library, Google Scholar, Scopus, PEDro, and Web of Science. The inclusion criteria for the systematic review were thus met by (n=14) randomized controlled studies. Results: IASTM treatments are associated with both short and long-term pain reduction and improved functioning. IASTM was discovered to have a short-term favorable effect on the functioning of patients with soft tissue injuries. Conclusion: It was established that IASTM had a short-term positive impact on the functionality of individuals with soft tissue injuries in different body regions. Future researches should focus on acquiring information about long-term effects using credible evidence.

The Investigation of Physiological Stress Shielding as a Consequence of Bilateral Low Back Pain on Musculoskeletal Soft Tissues: a Finite Element Study

The Investigation of Physiological Stress Shielding as a Consequence of Bilateral Low Back Pain on Musculoskeletal Soft Tissues: a Finite Element Study