European Journal of Translational Myology最新文献

{"title":"Reply to <i>Before scoliosis can be attributed to the variant c.326G>A in MYH3, its pathogenicity must be proven</i>.","authors":"Maria Chiara Maccarone, Matilde Paramento, Edoardo Passarotto, Paola Contessa, Maria Rubega, Emanuela Formaggio, Stefano Masiero","doi":"10.4081/ejtm.2025.14034","DOIUrl":"10.4081/ejtm.2025.14034","url":null,"abstract":"<p><p>Dear Editor, We appreciate the valuable comments regarding our recent case report on a 15-year-old girl presenting with scoliosis, growth retardation, facial dysmorphism, and delayed puberty, who was found to carry the heterozygous NM_002470.4(MYH3):c.326G>A (p.Arg109His) variant.1 We welcome the opportunity to address the concerns raised and to further clarify aspects of our study, as constructive scientific dialogue is important for refining our understanding of the pathophysiology of scoliosis. [...].</p>","PeriodicalId":46459,"journal":{"name":"European Journal of Translational Myology","volume":" ","pages":""},"PeriodicalIF":1.8,"publicationDate":"2025-10-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12536670/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144530230","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Observational study for multidimensional assessment in elderly patients hospitalized for post-fracture or elective surgery and functional rehabilitation.","authors":"Francesco Saverio Ragusa, Nicola Veronese, Alessandro D'Aleo, Ligia J Dominguez, Pietro Cataldo, Mario Barbagallo","doi":"10.4081/ejtm.2025.13940","DOIUrl":"10.4081/ejtm.2025.13940","url":null,"abstract":"<p><p>Fracture-related hospitalizations are frequent in older adults, with recovery often extended. This study evaluated the prognostic utility of the Multidimensional Prognostic Index (MPI), Handgrip Strength (HGS), Short Physical Performance Battery (SPPB), and Geriatric Depression Scale (GDS) in predicting adverse outcomes-hospitalizations, falls, or mortality-after femoral fracture or total knee arthroplasty surgery. The methods adopted were MPI assessed frailty, SPPB measured physical performance, GDS identified depression, and HGS evaluated muscle strength. Receiver Operating Characteristic (ROC) curves determined their predictive value for adverse outcomes. The study included 206 older adults (mean age 77.5, 79.6% female). At 6 months post-surgery, significant improvements were seen in SPPB (+4.35) and HGS (+1.36 kg), with notable gains among frail patients. MPI scores declined (-0.15), and Walking Test improved (+1.92). MPI showed the strongest predictive power (AUC 0.89). Higher MPI (HR 3.47) and lower HGS (HR 0.88) were significantly associated with mortality. Male sex also increased mortality risk (HR 5.99). MPI and HGS effectively predicted adverse outcomes over 6 months, supporting their use in risk stratification for older adults' post-surgery for fractures or total knee arthroplasty surgery.</p>","PeriodicalId":46459,"journal":{"name":"European Journal of Translational Myology","volume":" ","pages":""},"PeriodicalIF":1.8,"publicationDate":"2025-10-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12536680/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144973852","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Comparison of DNA fragmentation index and fertility rate after unilateral and bilateral microsurgical varicocelectomy.","authors":"Reza Mohammadi Farsani, Mahdi Azarabadi, Mohammad Javanbakht, Mahdiyar Jaberi, Mosa Asadi","doi":"10.4081/ejtm.2025.13791","DOIUrl":"10.4081/ejtm.2025.13791","url":null,"abstract":"<p><p>Varicoceles and their impact on sperm quality are considered one of the most common causes of male infertility. This study aims to examine the outcomes of unilateral and bilateral microsurgical varicocelectomy concerning DNA Fragmentation Index (DFI), different sperm parameters, and overall fertility. This is a cross-sectional study in which we analyzed 100 male patients who were diagnosed with varicocele by ultrasound and had a history of infertility of at least one year. Fifty patients had unilateral varicocele and 50 had bilateral varicocele (left side clinical plus right side subclinical) who underwent microsurgical varicocelectomy from March 21, 2022, to March 21, 2023. We compared the DFI before and after surgery, and fertility rates between the two groups were assessed. The median age of participants was 32 years, with a body mass index (BMI) of 25 kg/m² and an average infertility duration of 2 years. A comparative analysis revealed a statistically significant difference in the median years of infertility between the unilateral and bilateral groups before surgery (p=0.03). Both unilateral (p<0.001) and bilateral (p<0.001) microsurgical varicocelectomy significantly reduced DFI. However, the bilateral approach was better at lowering DFI than the unilateral method in microsurgical varicocelectomy (p<0.05). The pregnancy rates after surgery were 36.0% for the unilateral and 58.0% for the bilateral group; this difference was statistically significant, favoring bilateral microsurgical varicocelectomy (p=0.04). Microsurgical varicocelectomy is a viable treatment option for couples facing oligospermia, especially for those with bilateral varicoceles.</p>","PeriodicalId":46459,"journal":{"name":"European Journal of Translational Myology","volume":" ","pages":""},"PeriodicalIF":1.8,"publicationDate":"2025-10-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12536677/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144112275","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Impact of myokines on chronic liver diseases: exploring the effects of metabolic dysfunction-associated steatotic liver disease (MASLD) on skeletal muscle. A narrative review.","authors":"Francisco Aguirre, Mayalen Valero-Breton, Daniel Cabrera, Luis Peñailillo, María Carolina Otero, Claudia Fredes, Claudio Cabello-Verrugio","doi":"10.4081/ejtm.2025.13365","DOIUrl":"10.4081/ejtm.2025.13365","url":null,"abstract":"<p><p>Metabolic dysfunction-associated steatotic liver disease (MASLD) is a condition characterized by altered liver function due to fatty accumulation, which can lead to liver inflammation and, in advanced stages, liver carcinoma. MASLD is closely linked to several metabolic alterations, such as obesity and insulin resistance, which directly affect skeletal muscles and contribute to the development of sarcopenia. Sarcopenia is the loss of muscle mass and strength, leading to decreased physical performance in severe stages. Skeletal muscles secrete molecules known as myokines under various conditions, such as exercise or diseases like MASLD. These myokines modulate communication between the skeletal muscle and other tissues. These myokines regulate muscle mass and, in pathological conditions, contribute to the development of sarcopenia. Emerging evidence highlights the crucial role of myokines in regulating skeletal muscle metabolism and function in MASLD. Myokines influence muscle metabolism, inflammation, and insulin sensitivity, offering potential therapeutic targets for managing muscle atrophy and sarcopenia in the context of MASLD. Understanding the interaction between myokines and skeletal muscle may lead to novel interventions to mitigate MASLD progression and sarcopenia. This review examines the mechanisms by which myokines regulate skeletal muscle metabolism and function in the context of MASLD.</p>","PeriodicalId":46459,"journal":{"name":"European Journal of Translational Myology","volume":" ","pages":""},"PeriodicalIF":1.8,"publicationDate":"2025-10-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12536684/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144700040","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Shared diagnostic genes and potential mechanisms between asthma and lung cancer revealed by integrated transcriptomic analysis and machine learning.","authors":"Ling-Jun Zeng, Jun-Cai Tian, Xu Hu, Ting-Ting Zhang, Qing-Qing Dai, Ming-Li Wei","doi":"10.4081/ejtm.2025.13952","DOIUrl":"10.4081/ejtm.2025.13952","url":null,"abstract":"<p><p>Lung cancer, a severe malignancy with poor prognosis, poses a formidable public health challenge. Beyond conventional risk factors such as smoking, evidence suggests that chronic respiratory diseases also contribute to its development. Among these, asthma, the second most prevalent chronic respiratory condition, is recognized as a risk factor for lung cancer. Nevertheless, the underlying molecular link between these two diseases remains elusive. Our study, leveraging multi-cohort data integration and employing Weighted Gene Co-expression Network Analysis (WGCNA), identified conserved shared genes between lung cancer and asthma. By constructing the functional landscape of these shared genes, we underscored the pivotal roles of pathways related to lung development and cellular metabolic homeostasis in the pathogenesis of both lung cancer and asthma. Utilizing machine learning-based screening, we identified three hub biomarkers: P2RY14, ANXA3, and SLIT2, which could serve as diagnostic tools for these diseases. In summary, our research provides invaluable insights into the shared mechanisms underlying asthma and lung cancer, and potential diagnostic biomarkers.</p>","PeriodicalId":46459,"journal":{"name":"European Journal of Translational Myology","volume":" ","pages":""},"PeriodicalIF":2.0,"publicationDate":"2025-10-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12536673/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144973871","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Outcomes of flexor carpi radialis tendon transfer surgery for patients with radial nerve injury: a comparison of the wide-awake method and general anesthesia.","authors":"Parviz Ahangar, Hosein Pirmohamadi, Alireza Rahimnia, Mohammad Kazem Emami Meybodi, Mohammad Javanbakht, Mohsen Motalebi, Mehdi Raei, Asghar Yousefi, Seyed Ahmadreza Madinei","doi":"10.4081/ejtm.2025.13454","DOIUrl":"10.4081/ejtm.2025.13454","url":null,"abstract":"<p><p>Advanced intraoperative anesthesia techniques have improved patient cooperation, stabilized hemodynamic status, and reduced postoperative pain and disability, especially in reconstructive limb surgeries. The Wide-Awake Local Anesthetic No Tourniquet (WALANT) technique has recently been adopted due to its peculiar advantages, but comparative studies of its benefits and limitations against general anesthesia are not well explored in FCR tendon transfer surgery. This study investigates outcomes of Flexor Carpi Radialis (FCR) tendon transfer surgery in patients with radial nerve injuries using either the Wide-Awake approach or general anesthesia. In this cross-sectional study, we included patients with confirmed radial nerve injuries who underwent FCR tendon transfer from 2019 to 2024. Participants were then divided into two groups; one received the WALANT anesthesia (200 ml epinephrine 1:400000 and 0.25% lidocaine buffered with sodium bicarbonate), while the other received general anesthesia. Data was collected from the medical records and the Hospital Information System (HIS). The intensity of pain, postoperative opioid consumption, wrist and finger function, and levels of patient satisfaction were measured both before and one month after surgery. There was no statistical difference between the groups regarding pain intensity, postoperative opioid dosage, and symptom severity. However, the WALANT group exhibited significantly less motor dysfunction in the postoperative period, which resulted in a much higher level of patient satisfaction compared to general anesthesia. WALANT provides quicker recovery of motor function and results in higher patient satisfaction when compared to general anesthesia for FCR tendon transfer surgeries. This approach thus leads to an earlier return to daily activities and occupational duties, which in turn helps improve overall patient satisfaction post-surgery.</p>","PeriodicalId":46459,"journal":{"name":"European Journal of Translational Myology","volume":" ","pages":""},"PeriodicalIF":1.8,"publicationDate":"2025-10-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12536676/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144530328","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Plasma and salivary irisin response to moderate load/high volume resistance exercise in young, resistance-trained men.","authors":"Luigi Marano, Sara Missaglia, Eleonora Martegani, Andrea Bonanomi, Chiara Tremolada, Daniela Tavian, Ferdinando Cereda","doi":"10.4081/ejtm.2025.13957","DOIUrl":"10.4081/ejtm.2025.13957","url":null,"abstract":"<p><p>Irisin's response to Resistance Exercise (RE) remains unclear. We investigated plasma and salivary irisin levels following acute moderate load/high volume (ML/HV) RE and explored correlations with muscle damage markers. Eight healthy, resistance-trained young males (23.3±2.5 yrs) completed one ML/HV RE session (full-body, 30 sets to failure, 70% 1RM). Plasma/saliva irisin, plasma Creatine Kinase (CK), and Visual Analogue Scale (VAS) for muscle soreness were assessed at baseline, 15 min, 24h, and 48h post-exercise. Plasma irisin increased significantly by ~9% (p=0.01) and salivary irisin by ~4% (p=0.02) at 15 min post-exercise, returning towards baseline by 24h. A strong correlation (rho=0.8, p=0.03) existed between percentage changes in plasma and salivary irisin at 15 min. CK and VAS peaked at 24h (p<0.001; p=0.02 vs 48h, respectively), but showed no significant correlation with irisin changes. Acute ML/HV RE elicits a transient increase in plasma and salivary irisin. Saliva may be a useful non-invasive proxy for irisin changes post-RE. This acute irisin response appears independent of EIMD markers in this population. Findings require confirmation in larger studies.</p>","PeriodicalId":46459,"journal":{"name":"European Journal of Translational Myology","volume":" ","pages":""},"PeriodicalIF":1.8,"publicationDate":"2025-10-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12536678/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144592628","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Compensation for balance disorders: analysis of this multifactorial process.","authors":"Philippe Perrin, Art Mallinson, Neil Longridge, Enrico Armato, Mans Magnusson, Georges Dumas, Nicolas Perrin, Pierre Denise, Paolo Gargiulo, Hannes Petersen, Christian Beyaert","doi":"10.4081/ejtm.2025.13816","DOIUrl":"10.4081/ejtm.2025.13816","url":null,"abstract":"<p><p>The European Society for Clinical Evaluation of Balance Disorders (ESCEBD), based in Nancy, France, has been meeting yearly since 2005 to discuss equilibrium-related themes that are not yet clearly defined or standardized. One of our latest discussions was with regard to outlining strategies of internal and external compensation that may be used to cope with balance disorders. A Committee was elected to discuss the mechanisms of compensation that may be involved in coping with balance system disorders. Compensation, referring to the immediate or short-term adaptive mechanisms that are used to counterbalance the effects of deficiencies that disrupt balance maintenance, can include alternative strategies, resources, or environmental supports to overcome deficits or challenges associated with a deficiency. The strategies can be internal (i.e. utilizing the individual's own multi-sensory neural integration, motor, and cognitive resources) or external (i.e. modifying the environment, or using assistive or adaptive devices) to reduce fall hazard and enhance safety. This report focuses principally on internal compensation, generated by sensorimotor processes of the central nervous system (CNS) in response to impairment of either sensory information (e.g. vestibular pathologies), the musculoskeletal system (e.g. lower limb amputation and myopathies) or the CNS itself (e.g. upper motor neuron syndrome). The multifactorial process of compensation may explain the limitations encountered by the CNS in compensating for complex bodily impairments and may also limit our understanding of how the CNS adapts to balance disorders. Newly developed devices, such as wearable sensory substitution devices, are on the horizon as possible tools.</p>","PeriodicalId":46459,"journal":{"name":"European Journal of Translational Myology","volume":" ","pages":""},"PeriodicalIF":1.8,"publicationDate":"2025-10-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12536685/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144592627","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Effectiveness of deep brain stimulation in alleviating treatment-resistant schizophrenia: a systematic review.","authors":"Mohsen Khosravi","doi":"10.4081/ejtm.2025.14206","DOIUrl":"10.4081/ejtm.2025.14206","url":null,"abstract":"<p><p>The complexity of schizophrenia, particularly in cases resistant to traditional pharmacological treatments, poses significant challenges for clinicians and researchers. This systematic review synthesizes existing evidence on the effectiveness of deep brain stimulation in treating treatment-resistant schizophrenia. Utilizing the PRISMA 2020 guidelines, a comprehensive literature search was conducted in March 2025 using the \"Connected Papers\" tool and other sources such as Web of Science, PubMed, PsycINFO, Embase, and Scopus, focusing on studies related to \"deep brain stimulation,\" \"treatment-resistant schizophrenia,\" and \"refractory schizophrenia.\" Four studies met the eligibility criteria, revealing that deep brain stimulation targeting specific brain regions, particularly the nucleus accumbens, can lead to significant symptomatic improvements in approximately 30% of patients unresponsive to conventional antipsychotics. Despite ten adverse events recorded across thirteen procedures, deep brain stimulation offers potential benefits for select individuals. While not universally superior to existing treatments, deep brain stimulation could inform clinical practice and decision-making, highlighting its role in multidisciplinary treatment frameworks. The findings underscore the importance of innovative therapeutic approaches in psychiatry and suggest broader implications for neuromodulation techniques across various psychiatric and neurological disorders, promoting personalized and effective treatment paradigms in mental healthcare.</p>","PeriodicalId":46459,"journal":{"name":"European Journal of Translational Myology","volume":" ","pages":""},"PeriodicalIF":1.8,"publicationDate":"2025-10-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12536682/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145024400","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Cardiac wasting is not cardiac cachexia: the problem of the subjective/objective genitive in matters of the heart.","authors":"Anna Luisa Mazzotti, Medhi Hassani, Zhenlin Li, Denise Paulin, Onnik Agbulut, Dario Coletti","doi":"10.4081/ejtm.2025.14147","DOIUrl":"10.4081/ejtm.2025.14147","url":null,"abstract":"<p><p>Tessitore, Costelli et al. were among the first to report a previously unnoticed loss of heart mass in cachectic mice suffering from a severe tumor burden. At the time both the general consensus definition of cachexia and the cancer cachexia classification did not exist. In particular, cancer cachexia is a syndrome characterized by muscle wasting leading to body weight loss in the presence of cancer. More recently, Zhou et al. highlighted once more the existence of a tumor-induced loss of heart mass in a murine model of cancer cachexia. This study generated a new line of research aimed at exploring the mechanisms underlying cardiac wasting in the presence of cancer. Cardiac wasting in the presence of cancer-induced cachexia is distinct from and other than cardiac cachexia, i.e. the atrophy of skeletal muscle induced by cardiac pathologies. However, over the years we have noticed that expressions such as \"cardiac cachexia\", \"cardiac atrophy\", and \"muscle cachexia\"  - that sound alike but are very different - are often mistakenly used. In particular, we are afraid that these misunderstandings may suggest to inexperienced readers that cardiac cachexia is a form of cardiac muscle atrophy, which is not. To add insult to injury, some authors use the expression \"muscle cachexia\" meaning muscle atrophy, which, as a consequence, may suggest to naive readers that cardiac cachexia is a form of cardiac muscle atrophy. We aim here to clarify the terminology describing these conditions, so as to avoid the misleading use of related expressions: cardiac atrophy and cardiac cachexia may sound alike but are very different. In particular, it is the expression \"cardiac cachexia\" that raises a problem of ambiguity and should be handled with care. [...].</p>","PeriodicalId":46459,"journal":{"name":"European Journal of Translational Myology","volume":" ","pages":""},"PeriodicalIF":1.8,"publicationDate":"2025-10-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12536674/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144973897","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}