European Journal of Translational Myology最新文献

{"title":"Reply to <i>Before scoliosis can be attributed to the variant c.326G&gt;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":"https://doi.org/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":"2025-06-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144530230","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Before scoliosis can be attributed to the variant c.326G>A in MYH3, its pathogenicity must be proven.","authors":"Josef Finsterer","doi":"10.4081/ejtm.2025.13832","DOIUrl":"https://doi.org/10.4081/ejtm.2025.13832","url":null,"abstract":"<p><p>Dear Editor, We were interested to read the article by Maccarone et al. about a 15-year-old girl with scoliosis, growth retardation, facial dysmorphism and delayed puberty.1 Genetic testing revealed the heterozygous variant NM_002470.4(MYH3):c.326G>A (p.Arg109His) in MYH3. The patient benefited from a Lyon ARTbrace after refusing surgical correction of scoliosis.1 The study is noteworthy, but several points should be discussed. [...].</p>","PeriodicalId":46459,"journal":{"name":"European Journal of Translational Myology","volume":" ","pages":""},"PeriodicalIF":1.8,"publicationDate":"2025-06-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144530327","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Physiological and morphological impact of physical activity and nutritional interventions to offset disuse-induced skeletal muscle atrophy.","authors":"Irfan Arif, Ayesha Rasheed, Sadia Nazeer, Fareeha Shahid","doi":"10.4081/ejtm.2025.13177","DOIUrl":"10.4081/ejtm.2025.13177","url":null,"abstract":"<p><p>Skeletal muscle tissue acts as a functional unit for physical movements, energy metabolism, thermogenesis, and metabolic homeostasis. In this literature review, the underlying mechanisms of skeletal muscle atrophy and the prevention strategies, including vigorous training and nutritional modifications are focused. Furthermore, the comparative analysis of multiple interventions is briefly explained. Ageing is an inevitable process often associated with cognitive impairment and physical decline due to muscular atrophy. Skeletal muscle atrophy is characterized by low muscle mass due to multiple underlying factors, i.e., genetic predisposition, ageing, inflammation, and trauma. The structural alterations include myofiber shrinkage, changes in myosin isoforms, decrease in myofiber diameter, and total protein loss. Furthermore, there is an imbalance in protein anabolic and catabolic reactions. This may be due to changes in multiple signal transduction pathways of protein degradation (i.e., caspase, calpain, ubiquitin protein degradation system, autophagy) and protein anabolism via the mTOR pathway. Consequently, certain pathophysiological factors associated with health disparities may reduce mobility and functional capacity to perform ADLs. To tackle this issue, novel strategies linked to physical movement, and dietary intake must be incorporated in life. Exercise poses multiple health benefits, including improved muscle mass and mobility. Diet diversification [particularly protein-rich meals] and the \"whole food\" approach (based on non-protein nutrients) may enhance intramuscular anabolic signaling and tissue remodeling. However, there is a pressing need to fund large-scale evidence-based trials based on modern machine learning techniques (AI-driven nutrition). Additionally, entrepreneurial platforms for commercialization of consumer-friendly food products must be initiated in future.</p>","PeriodicalId":46459,"journal":{"name":"European Journal of Translational Myology","volume":" ","pages":""},"PeriodicalIF":1.8,"publicationDate":"2025-06-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12265418/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143990334","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":"Virtual reality and cognitive function rehabilitation after traumatic brain injury: a systematic review.","authors":"Nemanja Lakicevic, Bogdan Andjelic, Marko Manojlovic, Ambra Gentile, Antonino Bianco, Antonio Paoli, Sergey Leonov, Alexander Pashchenko, Patrik Drid","doi":"10.4081/ejtm.2025.13275","DOIUrl":"10.4081/ejtm.2025.13275","url":null,"abstract":"<p><p>Traumatic Brain Injury (TBI) is the leading cause of injury-related death worldwide. In recent years, Virtual Reality (VR) has emerged as a promising diagnostic and treatment tool capable of improving Cognitive Function (CF) after TBI. We sought to review the literature on this issue systematically. Web of Science, PubMed and PsycINFO were screened for relevant literature. Only randomized control trials whereby TBI-affected individuals underwent VR training and control groups received standard rehabilitative care were included. Screening, quality appraisal and data extraction were conducted by independent reviewers using a standardized protocol. Six studies of ~300 participants met the inclusion criteria and showed that both groups improved their overall CF post-intervention. However, non-immersive and semi-immersive VR groups had markedly better scores in all of the cognitive domains measured when compared to non-VR groups. VR is a potent post-TBI rehabilitative tool that can improve CF in this population and facilitate the return-to-work process. Future studies should adopt a similar design yet use fully immersive VR to enhance CF potentially to a greater degree.</p>","PeriodicalId":46459,"journal":{"name":"European Journal of Translational Myology","volume":" ","pages":""},"PeriodicalIF":1.8,"publicationDate":"2025-06-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12265412/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144042011","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":"Sonographic image texture features in muscle tissue-mimicking material reduce variability introduced by probe angle and gain settings compared to traditional echogenicity.","authors":"Dustin J Oranchuk, Katie L Boncella, Daniella Gonzalez-Rivera, Michael O Harris-Love","doi":"10.4081/ejtm.2025.13511","DOIUrl":"10.4081/ejtm.2025.13511","url":null,"abstract":"<p><p>Cost-effective and portable ultrasonography offers a promising approach for monitoring skeletal muscle damage and quality in many contexts. However, echogenicity analysis relies on precise transducer orientations and machine parameters, posing challenges for data pooling across different raters and settings. Muscle texture analysis offers a potential means of reducing inter-rater and machine-setting variability. Scans were assessed at nine angles, controlled using a custom transducer shell and software. Scans were performed three times, and different gains were applied. All scans were performed on a muscle tissue-mimicking phantom to eliminate biological variability. Intra-angle and intra-gain variability and internal consistency were assessed via coefficient of variation (CV%) and Cronbach's alpha (αc). Spearman's (ρ) correlations were employed to determine the relationship between echogenicity and each texture feature. Entropy (angle: CV=2.7-7.6%; gain: CV=10.5%; αc=0.86), and inverse difference moment (angle: CV=3.7-9.8%; gain: CV=16.5%; αc=0.87) were less variable than echogenicity (angle: CV=6.4-19.4%; gain: CV=39.0%; αc=0.82). Angular second moment (angle: CV=17.9-116.6%; gain: CV=71.6%; αc=0.68), contrast (angle: CV=7.8-14.7%; gain: CV=41.8%;αc=0.75), and correlation (angle: CV=9.0-13.5%; gain: CV=28.6%; αc=0.49) features were generally more variable. Entropy (ρ=0.82-0.98, p≤0.011) and inverse difference moment (ρ=-0.98--0.83, p≤0.008), were more strongly correlated with echogenicity than angular second moment (ρ=-0.98--0.77, p≤0.016), contrast (ρ=0.53-0.98, p≤0.15), and correlation (ρ=-0.25--0.19, p=0.520-0.631). Entropy and inverse difference moment features may allow data sharing between laboratory and clinical settings with ultrasound machine parameters and raters of varying skill levels. Clinical and mechanistic studies are required to determine if texture features can replace echogenicity assessments.</p>","PeriodicalId":46459,"journal":{"name":"European Journal of Translational Myology","volume":" ","pages":""},"PeriodicalIF":1.8,"publicationDate":"2025-06-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12265416/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143755057","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":"Study of the relationship between mediolateral episiotomy in vaginal delivery and pelvic organ prolapse in pregnant mothers.","authors":"Marzieh Savari, Mahdieh Rahmatipanah, Sepideh Miraj, Abolfazl Mohammadbeigi","doi":"10.4081/ejtm.2025.13822","DOIUrl":"10.4081/ejtm.2025.13822","url":null,"abstract":"<p><p>Pelvic Floor Disorders (PFDs) are a group of disorders of the female reproductive system that can cause a variety of problems for women. PFDs can include Urinary Incontinence (UI) and Pelvic Organ Prolapse (POP). This study evaluated the association between mediolateral episiotomy during pregnancy and POP in patients. A cross-sectional study with prospective follow-up was conducted on 150 pregnant women admitted for vaginal delivery at Furqani Hospital in Qom, Iran. Participants were divided into episiotomy and non-episiotomy groups based on clinical indications. Pelvic organ prolapse was assessed using the Pelvic Organ Prolapse Quantification (POP-Q) system at baseline and 3-6 months postpartum. Data were analyzed using SPSS version 26, with a significance level of 0.05. The study included 142 patients with a mean age of 29.67 years. No significant differences were observed in demographic or clinical variables between the episiotomy and non-episiotomy groups at baseline. Postpartum, the episiotomy group showed significant improvements in cystocele severity (P=0.038), rectocele severity (P=0.026), apical prolapse (P=0.011), levator tone (P=0.016), and perineal descent (P=0.016). However, the cough test results did not differ significantly (P=0.052). Mediolateral episiotomy during vaginal delivery was associated with reduced severity of POP and improved PFD. These findings suggest a potential protective effect of episiotomy against certain pelvic floor complications, although further studies with larger sample sizes and longer follow-up periods are needed to confirm these results.</p>","PeriodicalId":46459,"journal":{"name":"European Journal of Translational Myology","volume":" ","pages":""},"PeriodicalIF":1.8,"publicationDate":"2025-06-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12265408/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144112278","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":"Relationship between body mass index and lower limb power in children and adolescents.","authors":"Rossana Gómez-Campos, Rubén Vidal-Espinoza, Evandro Lazari, Camilo Urra-Albornoz, Luis Felipe Castelli Correia de Campos, Margot Rivera-Portugal, Marco Cossio-Bolaños","doi":"10.4081/ejtm.2025.13509","DOIUrl":"10.4081/ejtm.2025.13509","url":null,"abstract":"<p><p>Excess body weight is associated with increased mortality, low physical fitness and low levels of physical activity. The objective this study to verify the linear and nonlinear (quadratic) relationships between Body Mass Index (BMI) and lower limb strength in children and adolescents of both sexes in a region of Chile. A descriptive (cross-sectional) study was carried out in children and adolescents of school age (6 to 17 years) of both sexes. The sample size was 863 schoolchildren (500 males and 363 females). Weight, height and the Horizontal Jump test (HJ) were evaluated. BMI and BMI z -score were calculated according to age and sex. In males, the explanatory power in the linear model [R= 0.15, R2= 0.02, Root Mean Square Error (RMSE)= 39.6] is lower than the non-linear quadratic model (R= 0.22, R2= 0.05, RMSE= 39.0). In females, the explanatory power in the linear model (R= 0.12, R2= 0.02, RMSE= 23.2) is lower than the quadratic nonlinear model (R= 0.19, R2= 0.04, RMSE= 22.9). In the BMI z-score scale, males presented HJ values of: [Low BMI 145.4±39.5cm, normal 164.2±33.6cm, and high BMI 109.0±23.2cm]. In females it was: [Low BMI 108.0±23.0cm, normal 113.5±36.3cm, and elevated BMI 91.5±30.4cm].  The study verified a curvilinear relationship in the form of a parabola (quadratic) between BMI and the HJ test in children and adolescents of both sexes. Schoolchildren in the extreme BMI categories (low and high BMI) reflected low performance in the HJ in relation to school-children with normal BMI.</p>","PeriodicalId":46459,"journal":{"name":"European Journal of Translational Myology","volume":" ","pages":""},"PeriodicalIF":1.8,"publicationDate":"2025-06-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12265409/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143796698","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":"https://doi.org/10.4081/ejtm.2025.13454","url":null,"abstract":"<p><strong>Background: </strong>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.</p><p><strong>Methods: </strong>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.</p><p><strong>Results: </strong>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 translated to a much higher level of patient satisfaction compared with general anesthesia.</p><p><strong>Conclusion: </strong>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":"2025-06-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144530328","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Handgrip strength of skiers is not an ideal biomarker of a person's fitness.","authors":"Josef Finsterer","doi":"10.4081/ejtm.2025.13591","DOIUrl":"10.4081/ejtm.2025.13591","url":null,"abstract":"<p><p>Dear Editor, We read with interest the article by Burtscher et al. on hand grip strength measured with a hand dynamometer at various locations along Tyrolean ski slopes in 757 recreational skiers compared to 1021 community residents.1 Most of the male subjects and half of the female subjects had higher grip strength of the dominant hand compared to the control subjects.1The grip strength of the skiers decreased with age to a similar extent as that of the reference population. The relative grip strength correlated positively with physical activity and the number of skiing days per year and negatively with body weight.1 It was concluded that hand grip strength is related to the type, amount and intensity of regular physical activity and that the results support recommendations for training or rehabilitation.1 The study is noteworthy, but several points should be discussed. [...].</p>","PeriodicalId":46459,"journal":{"name":"European Journal of Translational Myology","volume":" ","pages":""},"PeriodicalIF":1.8,"publicationDate":"2025-06-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12265407/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143774592","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":"Insomnia due to a dislocation storm in hypermobile Ehlers-Danlos syndrome with small fibre neuropathy and recurrent syncope.","authors":"Josef Finsterer","doi":"10.4081/ejtm.2025.12946","DOIUrl":"10.4081/ejtm.2025.12946","url":null,"abstract":"<p><strong>Objective: </strong>To report on a patient with hypermobile Ehlers-Danlos syndrome (EDS) with SFN in whom frequent dislocations during sleep led to sleep deprivation.</p><p><strong>Case report: </strong>The patient is a 19-year-old female with hypermobile EDS manifested by frequent dislocations of large joints and small fiber neuropathy (SFN) presenting as recurrent syncope. The dislocations occurred spontaneously or triggered by voluntary or involuntary movements with such frequency, even during the night, that sleep was disturbed. The maximum sleep duration was between 4 and 5 hours. Bedding, analgesics, muscle relaxants and physiotherapy only marginally improved the pain and discomfort caused by the dislocations.</p><p><strong>Conclusions: </strong>This case demonstrates that hypermobile EDS can manifest phenotypically with insomnia due to pain and discomfort from frequent dislocations during the night. Patients with hypermobile EDS should undergo polysomnography to determine the cause of the sleep disturbance and initiate the most appropriate treatment for insomnia in a timely manner.</p>","PeriodicalId":46459,"journal":{"name":"European Journal of Translational Myology","volume":" ","pages":""},"PeriodicalIF":1.8,"publicationDate":"2025-06-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12265415/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144021454","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}