Advancements in the Diagnostics and Management of Musculoskeletal Diseases

A special issue of Diagnostics (ISSN 2075-4418). This special issue belongs to the section "Clinical Diagnosis and Prognosis".

Deadline for manuscript submissions: closed (31 August 2025) | Viewed by 9287

Special Issue Editor

Special Issue Information

Dear Colleagues,

Pathologies of the musculoskeletal system can and must be addressed by many professionals, such as orthopedists, traumatologists, physiatrists, physiotherapists, rheumatologists, geriatricians, radiologists, biologists, biotechnologists, bioengineers and other doctors, health professionals, and basic scientists. Their interaction in a multi- and transdisciplinary approach is very important. The aims of this Special Issue are as follows: (1) to summarize through literature reviews, or systematic or meta-analyses, the state of the art of the most interesting and current problems of the musculoskeletal system; (2) to offer the most current and innovative research through original articles. Both basic science and clinical papers are welcome to be submitted as long as they concern diagnostics of the musculoskeletal system even with therapeutic aspects.

Dr. Alessandro de Sire
Guest Editor

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Keywords

  • musculoskeletal system
  • joint
  • orthopedics
  • traumatology
  • rehabilitation
  • radiology
  • fracture
  • muscle
  • connective tissues
  • regenerative medicine
  • tissue engineering

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Published Papers (6 papers)

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Research

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12 pages, 704 KB  
Article
AI-Based 3D-Segmentation Quantifies Sarcopenia in Multiple Myeloma Patients
by Thuy-Duong Do, Tobias Nonnenmacher, Marieke Burghardt, Stefanie Zschaebitz, Marina Hajiyianni, Elias Karl Mai, Marc-Steffen Raab, Carsten Müller-Tidow, Hans-Ulrich Kauczor, Hartmut Goldschmidt and Ulrike Dapunt
Diagnostics 2025, 15(19), 2466; https://doi.org/10.3390/diagnostics15192466 - 26 Sep 2025
Viewed by 543
Abstract
Background: Sarcopenia is characterized by a loss of muscle mass and strength, resulting in functional limitations and an increased risk of falls, injuries and fractures. The aim of this study was to obtain detailed information on skeletal muscle changes in patients with multiple [...] Read more.
Background: Sarcopenia is characterized by a loss of muscle mass and strength, resulting in functional limitations and an increased risk of falls, injuries and fractures. The aim of this study was to obtain detailed information on skeletal muscle changes in patients with multiple myeloma (MM) during treatment. Methods: A total of 51 patients diagnosed with MM who had undergone whole-body low-dose computed tomography acquisition prior to induction therapy (T1) and post autologous stem cell transplantation (T2) were examined retrospectively. Total volume (TV), muscle volume (MV) and intramuscular adipose tissue volume (IMAT) of the autochthonous back muscles, the iliopsoas muscle and the gluteal muscles were evaluated on the basis of the resulting masks of the BOA tool with the fully automated combination of TotalSegmentator and a body composition analysis. An in-house trained artificial intelligence network was used to obtain a fully automated three-dimensional segmentation assessment. Results: Patients’ median age was 58 years (IQR 52–66), 38 were male and follow-up CT-scans were performed after a mean of 11.8 months (SD ± 3). Changes in MV and IMAT correlated significantly with Body-Mass-Index (BMI) (r = 0.7, p < 0.0001). Patients (n = 28) with a decrease in BMI (mean −2.2 kg/m2) during therapy lost MV (T1: 3419 cm3, IQR 3176–4000 cm3 vs. T2: 3226 cm3, IQR 3014–3662 cm3, p < 0.0001) whereas patients (n = 20) with an increased BMI (mean +1.4 kg/m2) showed an increase in IMAT (T1: 122 cm3, IQR 96.8–202.8 cm3 vs. T2: 145.5 cm3, IQR 115–248 cm3, p = 0.0002). Loss of MV varied between different muscle groups and was most prominent in the iliopsoas muscle (−9.8%) > gluteus maximus (−9.1%) > gluteus medius (−5.8%) > autochthonous back muscles (−4.3%) > gluteus minimus (−1.5%). Increase in IMAT in patients who gained weight was similar between muscle groups. Conclusions: The artificial intelligence-based three-dimensional segmentation process is a reliable and time-saving method to acquire in-depth information on sarcopenia in MM patients. Loss of MV and increase in IMAT were reliably detectable and associated with changes in BMI. Loss of MV was highest in muscles with more type 2 muscle fibers (fast-twitch, high energy) whereas muscles with predominantly type 1 fibers (slow-twitch, postural control) were less affected. This study provides valuable insight into muscle changes of MM patients during treatment, which might aid in tailoring exercise interventions more precisely to patients’ needs. Full article
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12 pages, 238 KB  
Article
To Self-Treat or Not to Self-Treat: Evaluating the Diagnostic, Advisory and Referral Effectiveness of ChatGPT Responses to the Most Common Musculoskeletal Disorders
by Ufuk Arzu and Batuhan Gencer
Diagnostics 2025, 15(14), 1834; https://doi.org/10.3390/diagnostics15141834 - 21 Jul 2025
Viewed by 767
Abstract
Background/Objectives: The increased accessibility of information has resulted in a rise in patients trying to self-diagnose and opting for self-medication, either as a primary treatment or as a supplement to medical care. Our objective was to evaluate the reliability, comprehensibility, and readability [...] Read more.
Background/Objectives: The increased accessibility of information has resulted in a rise in patients trying to self-diagnose and opting for self-medication, either as a primary treatment or as a supplement to medical care. Our objective was to evaluate the reliability, comprehensibility, and readability of the responses provided by ChatGPT 4.0 when queried about the most prevalent orthopaedic problems, thus ascertaining the occurrence of misguidance and the necessity for an audit of the disseminated information. Methods: ChatGPT 4.0 was presented with 26 open-ended questions. The responses were evaluated by two observers using a Likert scale in the categories of diagnosis, recommendation, and referral. The scores from the responses were subjected to subgroup analysis according to the area of interest (AoI) and anatomical region. The readability and comprehensibility of the chatbot’s responses were analyzed using the Flesch–Kincaid Reading Ease Score (FRES) and Flesch–Kincaid Grade Level (FKGL). Results: The majority of the responses were rated as either ‘adequate’ or ‘excellent’. However, in the diagnosis category, a significant difference was found in the evaluation made according to the AoI (p = 0.007), which is attributed to trauma-related questions. No significant difference was identified in any other category. The mean FKGL score was 7.8 ± 1.267, and the mean FRES was 52.68 ± 8.6. The average estimated reading level required to understand the text was considered as “high school”. Conclusions: ChatGPT 4.0 facilitates the self-diagnosis and self-treatment tendencies of patients with musculoskeletal disorders. However, it is imperative for patients to have a robust understanding of the limitations of chatbot-generated advice, particularly in trauma-related conditions. Full article

Review

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19 pages, 6029 KB  
Review
Beyond Nerve Entrapment: A Narrative Review of Muscle–Tendon Pathologies in Deep Gluteal Syndrome
by Yong Hyun Yoon, Ji Hyo Hwang, Ho won Lee, MinJae Lee, Chanwool Park, Jonghyeok Lee, Seungbeom Kim, JaeYoung Lee, Jeimylo C. de Castro, King Hei Stanley Lam, Teinny Suryadi and Kwan Hyun Youn
Diagnostics 2025, 15(19), 2531; https://doi.org/10.3390/diagnostics15192531 - 7 Oct 2025
Viewed by 4038
Abstract
Deep Gluteal Syndrome (DGS) has traditionally been defined as a clinical entity caused by sciatic nerve (SN) entrapment. However, recent anatomical and imaging studies suggest that muscle- and tendon-origin pathologies—including enthesopathy—may also serve as primary pain generators. This narrative review aims to broaden [...] Read more.
Deep Gluteal Syndrome (DGS) has traditionally been defined as a clinical entity caused by sciatic nerve (SN) entrapment. However, recent anatomical and imaging studies suggest that muscle- and tendon-origin pathologies—including enthesopathy—may also serve as primary pain generators. This narrative review aims to broaden the current understanding of DGS by integrating muscle and tendon pathologies into its diagnostic and therapeutic framework. The literature was selectively reviewed from PubMed, Cochrane Library, Google Scholar, PEDro, and Web of Science to identify clinically relevant studies illustrating evolving concepts in DGS pathophysiology, diagnosis, and management. We review clinical features and diagnostic tools including physical examination, MRI, and dynamic ultrasonography, with special attention to deep external rotator enthesopathy. Treatment strategies are summarized, including conservative therapy, ultrasound-guided injections, hydrodissection, and prolotherapy. This narrative synthesis underscores the importance of recognizing muscle-origin enthesopathy and soft-tissue pathologies as significant contributors to DGS. A pathophysiology-based, multimodal approach is essential for accurate diagnosis and effective treatment. Full article
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15 pages, 285 KB  
Review
Neurophysiological Examination for the Diagnosis of Orofacial Pain and Temporomandibular Disorders: A Literature Review
by Loredana Raciti, Martina Ferrillo, Antonio Ammendolia, Gianfranco Raciti, Claudio Curci, Dario Calafiore, Maria Pia Onesta, Rocco Salvatore Calabrò, Umile Giuseppe Longo and Alessandro de Sire
Diagnostics 2025, 15(8), 1035; https://doi.org/10.3390/diagnostics15081035 - 18 Apr 2025
Cited by 1 | Viewed by 1904
Abstract
Temporomandibular disorders (TMD) are a cluster of musculoskeletal conditions that involve the overall structures of jaw movements, including the temporomandibular joint, the masticatory muscles, and the surrounding structures. The etiology of TMD-related pain may be either central or peripheral, and differential diagnoses with [...] Read more.
Temporomandibular disorders (TMD) are a cluster of musculoskeletal conditions that involve the overall structures of jaw movements, including the temporomandibular joint, the masticatory muscles, and the surrounding structures. The etiology of TMD-related pain may be either central or peripheral, and differential diagnoses with other orofacial conditions are commonly required. Central pain etiology is associated with altered brain function linked to sensitization of pain-producing centers, whereas peripheral etiology of TMD is considered multifactorial, with some predisposing factors. Differentiating between neurological conditions and TMD requires a comprehensive clinical evaluation, as overlapping symptoms can complicate the diagnostic process. The aim of this review was to summarize the current literature about the role of neurophysiological examination in the management of orofacial pain and temporomandibular disorders to provide clear data that could be useful for clinical practice and for future clinical studies in this field. Full article

Other

Jump to: Research, Review

32 pages, 14260 KB  
Systematic Review
Efficacy of Percutaneous Vertebroplasty Versus Placebo and Conservative Treatment in Osteoporotic Vertebral Fractures: An Updated Systematic Review and Meta-Analysis of Randomized Clinical Trials
by Antonio Jesús Láinez Ramos-Bossini, Francisco Garrido Sanz, Marina Gea Becerra, Consolación Melguizo Alonso, José Prados, Fernando Ruiz Santiago and José Manuel Benítez
Diagnostics 2025, 15(21), 2684; https://doi.org/10.3390/diagnostics15212684 - 23 Oct 2025
Viewed by 449
Abstract
Introduction: The efficacy of percutaneous vertebroplasty (PV) versus placebo and conservative treatment (CT) in patients with osteoporotic vertebral fractures (OVFs) has been debated in recent years. The aim of this study was to conduct an updated systematic review with a meta-analysis on the [...] Read more.
Introduction: The efficacy of percutaneous vertebroplasty (PV) versus placebo and conservative treatment (CT) in patients with osteoporotic vertebral fractures (OVFs) has been debated in recent years. The aim of this study was to conduct an updated systematic review with a meta-analysis on the efficacy of randomized controlled trials (RCTs) comparing PV versus placebo and CT in pain relief, functionality and quality of life in patients with OVFs. Methods: A systematic search was conducted in PubMed, Web of Science, EMBASE, and CENTRAL, resulting in a total of 15 RCTs. The risk of bias was assessed using the Risk of Bias v.2 tool. A meta-analysis was performed using the weighted inverse variance method to analyze the standardized mean difference (SMD) in pain (VAS/NRS scales), functionality (RMDQ/ODI scales) and quality of life (QUALEFFO scale) in the short (<1 month), medium (1–6 months) and long terms (≥6 months). Heterogeneity was assessed using I2 and τ2. Subgroup analyses were performed according to the type of control, geographic region, number of institutions, fracture chronicity, and risk of bias. In addition, sensitivity (leave-one-out) and publication bias (funnel plots and Egger’s tests) analyses were performed. Results: Overall, PV showed benefits over the combined control groups in pain relief in the short (SMD: −0.68; 95%CI: −1.28–−0.07), medium (SMD: −0.63; 95%CI: −1.18–−0.07), and long terms (SMD: −0.59; 95%CI: −1.02–−0.15). No statistically significant differences were found in functionality and quality of life, although several trends toward significance were observed favoring PV. Subgroup analyses showed greater advantages of PV at several time intervals in acute (<8 weeks) OVFs, multicentric trials and studies with a low risk of bias. There were cues suggestive of potential publication bias in functionality, but not in pain or quality of life. Conclusions: PV shows significant benefits in pain relief, particularly in acute OVFs, but its efficacy in terms of functionality and quality of life remains unclear. These results support the use of PV in appropriately selected patients. However, given the high heterogeneity found, more controlled, multicenter trials are still required. Full article
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16 pages, 5302 KB  
Case Report
Identification of a Musculus Levator Claviculae on Physical Exam: A Case Report and Literature Review
by Eric Smith, Erik Vanstrum and Ashley Kita
Diagnostics 2025, 15(8), 1008; https://doi.org/10.3390/diagnostics15081008 - 16 Apr 2025
Viewed by 1215
Abstract
Background and Clinical Significance: The levator claviculae muscle (also known as cleidocervicalis) is a vestigial muscle located in the posterior triangle of the neck, extending from the upper cervical transverse processus to the clavicle. It has been detected in ~2% of humans, [...] Read more.
Background and Clinical Significance: The levator claviculae muscle (also known as cleidocervicalis) is a vestigial muscle located in the posterior triangle of the neck, extending from the upper cervical transverse processus to the clavicle. It has been detected in ~2% of humans, but is rarely documented in the radiologic or anatomic literature. When found on physical exam, it is usually mis-identified as lymphadenopathy, metastasis, cysts, an aneurysm, or other masses. It has been implicated in a few cases of thoracic outlet syndrome. Case Presentation: Herein, we describe a 25-year-old man with a weightlifting history, who was found to have a right levator claviculae muscle in the setting of unilateral mixed neurovascular thoracic outlet syndrome. The patient presented with right-sided extremity paresthesias, pain in the neck, shoulder, and arm, and symptom exacerbation with overhead activities. He also described intermittent unilateral pulsatile tinnitus during strenuous exercise. On physical exam, he was found to have a right carotid bruit, unequal systolic blood pressures, and positive Roos and Adson’s testing. The variant muscle was identified with a modified exam maneuver, and was further characterized with sonography and MRI. Symptoms were managed with activity restriction and NSAIDs. We reviewed 17 cases of levator claviculae variant muscles in patients. Conclusions: The presence of levator claviculae muscles has been detected in patients with thoracic outlet syndrome, but never in a patient with an audible bruit and pulsatile tinnitus. This physical exam maneuver, used in conjunction with multimodal imaging, successfully aided diagnosis and direct medical management in this case. Full article
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