{"title":"Polyendocrinopathy and multisystem involvement are common phenotypic features of Kearns-Sayre syndrome.","authors":"Josef Finsterer","doi":"10.4081/ejtm.2025.13634","DOIUrl":"10.4081/ejtm.2025.13634","url":null,"abstract":"<p><p>Dear Editor, We were interested to read the article by Amergoolov et al. on two patients with Kearns-Sayre Syndrome (KSS) due to single mtDNA deletions who had phenotypic endocrine disorders among other features.1 Patient 1, a 20-year-old female, was diagnosed with hypogonadism, diabetes and osteoporosis, and patient 2, a 22-year-old male, was diagnosed with impaired glucose tolerance and osteoporosis.1 It was found that the severity of clinical manifestations increases with the size of the mtDNA deletion, but that other factors such as heteroplasmy, mtDNA duplications or pleioplasmia can also determine the severity of the disease.1 The study is impressive, but some 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/PMC12265414/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143990925","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}
Paul Dowling, Elisa Negroni, Capucine Trollet, Margit Zweyer, Dieter Swandulla, Kay Ohlendieck
{"title":"Serum protein biomarker signature of Duchenne muscular dystrophy.","authors":"Paul Dowling, Elisa Negroni, Capucine Trollet, Margit Zweyer, Dieter Swandulla, Kay Ohlendieck","doi":"10.4081/ejtm.2025.13956","DOIUrl":"10.4081/ejtm.2025.13956","url":null,"abstract":"<p><p>In contrast to invasive skeletal muscle biopsies and the associated complexity of tissue sampling techniques and potential detrimental side effects, the alternative application of liquid biopsy procedures has considerable advantages concerning minimal invasiveness, repeated sampling options, assay robustness and cost effectiveness. This article outlines the current status of serum biomarkers used for diagnosing and characterizing Duchenne muscular dystrophy (DMD), a primary muscle wasting disease of early childhood due to primary abnormalities in the extremely large DMD gene. Reviewed are important aspects of the discovery, characterization and diagnostic value of biofluid-based protein markers of dystrophinopathy. This includes an overview of traditional general skeletal muscle damage markers, such as creatine kinase, myoglobin and lactate dehydrogenase, which have been used for many decades in clinical applications to evaluate patients with muscular weakness. In addition, this article outlines the biochemical identification of novel biomarker candidates focusing on the usage of mass spectrometry-based proteomic surveys to establish comprehensive profiles of protein alterations in dystrophinopathy. Pathoproteomic serum markers of myonecrosis with great potential for improved patient screening, differential diagnosis, stage-specific prognosis and therapeutic monitoring include specific isoforms of muscle-derived cytosolic proteins, such as carbonic anhydrase isoform CA3 and fatty acid binding protein FABP3, as well as sarcomeric proteins, including specific isoforms of myosin light chain, myosin binding protein, troponin, and myomesin, in addition to peptide fragments derived from the giant protein titin. Biofluid-associated marker proteins of reactive myofibrosis include the extracellular matrix proteins fibronectin, osteopontin, collagen and matrix-metalloproteinases.</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/PMC12265423/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144175287","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}
Ugo Carraro, Giorgio Fanò-Illic, Riccardo Forni, Maria Chiara Maccarone, Stefano Masiero
{"title":"Gifts for EJTM authors and readers and for PDM3 participants.","authors":"Ugo Carraro, Giorgio Fanò-Illic, Riccardo Forni, Maria Chiara Maccarone, Stefano Masiero","doi":"10.4081/ejtm.2025.14070","DOIUrl":"10.4081/ejtm.2025.14070","url":null,"abstract":"<p><p>The summer of 2025 is approaching and the need to finalize our plans for the next few years is urgent. The next Padua Days of Muscle and Mobility Medicine (PDM3) will be held from 3 to 6 March 2026 at the Hotel Petrarca, Euganean Thermae (Padova, Italy). A preliminary flyer for 2026 PDM3 is almost ready with organizers, session schedule and keynote speakers. A new website, named Padua Muscle Days, will be soon released with all the needed information for How to Join, Registration, Accommodation, Payments and the Abstract Template for the 2026 PDM3. We hope that readers will circulate its link (www.paduamuscledays.com) among colleagues and friends. No doubt that 2026 PDM3 will be a great gift for all participants. The other novelty is the 2024 Clarivate Analytics' Impact Factor which was assigned a few days ago: 1.8. As authors who publish in other journals, but even more as reviewers, readers could contribute to making bigger a small gift. In any case, it is a gift that has been waited for decades. Four Guest Editors have done their best to make the EJTM volume 35, issue 2, 2025, a very special ssue. Indeed, it is mainly dedicated to two Thematic Sections; he first, with more works, is named Advances in Musculoskeletal and Neuromuscular Rehabilitation, by Maria Chiara Maccarone and Stefano Masiero. The second is called Generative AI for Translational Mobility Medicine, by Giorgio Fanò-Illic and Riccardo Forni, and aims to attract works that use Digital Methods for Translational Mobility Medicine. We invite the members of the EJTM editorial board and the authors of highly cited articles to follow these examples and suggest further thematic sections for the EJTM of the next decade.</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/PMC12265417/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144318363","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":"Effect of estrogen and progesterone therapy on intraocular pressure: a systematic review and meta-analysis study.","authors":"Behzad Safarpour Lima, Shima Sayanjali, Nir Shoham-Hazon","doi":"10.4081/ejtm.2025.13497","DOIUrl":"10.4081/ejtm.2025.13497","url":null,"abstract":"<p><p>This systematic review and meta-analysis aimed to assess the effect of Hormone Replacement Therapy (HRT) with estrogen and progesterone on Intraocular Pressure (IOP) in postmenopausal women, with the objective of determining whether HRT can lower IOP and potentially reduce glaucoma risk. Following PRISMA guidelines, a comprehensive search was conducted up to June 2024. Eligible studies included randomized controlled trials and observational studies that reported IOP changes in postmenopausal women undergoing HRT. The pooled mean differences in IOP were calculated using both random-effects and fixed-effect models. The meta-analysis included 9 studies with a total of 1,024 participants. The pooled analysis showed a significant reduction in IOP among women receiving HRT compared to controls, with a mean difference of 3.84 mmHg (95% CI: 2.26 to 5.41, p < 0.01) in the random-effects model, and 2.36 mmHg (95% CI: 2.08 to 2.64, p < 0.01) in the fixed-effect model. Despite these significant results, there was high heterogeneity across studies (I² = 97%), likely due to variations in hormone types, dosages, and treatment durations. HRT is associated with a significant decrease in IOP in postmenopausal women, potentially offering protective benefits against glaucoma, although further research is needed to address the observed variability.</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/PMC12265411/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144050149","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":"Levels of catastrophizing pain and kinesiophobia in patients with osteoarthritis and their association.","authors":"Aristea Vitsa, Ioannis Moisoglou, Petros Galanis, Anastasios Merkouris, Evridiki Papastavrou, Pavlos Sarafis","doi":"10.4081/ejtm.2025.13636","DOIUrl":"10.4081/ejtm.2025.13636","url":null,"abstract":"<p><p>Aim of the present study was to assess the level of catastrophizing pain and kinesiophobia in patients with osteoarthritis and to investigate the association between catastrophizing pain and kinesiophobia. This follow-up study included 170 osteoarthritis patients undergoing surgery. They completed the Pain Catastrophizing Scale and the Tampa Scale for Kinesiophobia preoperatively (T0) and then postoperatively, at one (T1) and six months (T2). The mean score of catastrophizing pain preoperatively indicates moderate to high level of catastrophic pain. Multivariable linear regression analysis with total score of Pain Catastrophizing Scale preoperatively as the dependent variable found that increased age was associated with increased total score of Pain Catastrophizing Scale. The mean kinesiophobia score preoperatively indicates moderate to high level of kinesiophobia. Multivariable linear regression analysis with total score of the Tampa Scale for Kinesiophobia preoperatively as the dependent variable found that increased age and increased patients' inability to manage pain (helplessness) were associated with increased total score of the Tampa Scale for Kinesiophobia. Increased age and catastrophizing pain are predictors of kinesiophobia. Surgical interventions tend to reduce both catastrophizing pain and kinesiophobia.</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/PMC12265413/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144052862","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}
Yasaman Zandi Mehran, Hans Michael Weber, Fateme Hoseinzade, Nahid Tafazoli Harandi, Mozhgan Ayazi, Shila Mirzadeh
{"title":"Longevity concept by regenerative medicine methods synergy: exosome therapy, functional medicine, and advanced multi-wavelengths laser therapy.","authors":"Yasaman Zandi Mehran, Hans Michael Weber, Fateme Hoseinzade, Nahid Tafazoli Harandi, Mozhgan Ayazi, Shila Mirzadeh","doi":"10.4081/ejtm.2025.13540","DOIUrl":"10.4081/ejtm.2025.13540","url":null,"abstract":"<p><p>Regenerative medicine is one of the most important branches of medicine today and in the future and brings together all the methods to stop or even reverse the aging process. Regenerative medicine may include cellular therapies such as stem cell therapy or extracellular vesicle therapies such as exosomes and growth factor therapy. It may also involve the use of Photobiomodulation (PBM) and functional medicine treatments targets on mitochondrial medicine, to control the aging process. In this article, we have discussed the role, importance, rationale, overlap, and synergy of the joint application of these methods. Combining these regenerative medicine approaches can achieve better results in various medical indications. For longevity, any autoimmune disease, chronic disease, especially in elderly patients, this recommended combination seems to be very critical, for a higher survival rate in cell therapy methods. It is like a plant growing process that requires good quality seeds (cell therapy), light (targeted laser therapy) and good soil (functional medicine).</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/PMC12265419/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144024297","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":"Research into the physiology of myosins - a personal odyssey.","authors":"Joseph Foon Yoong Hoh","doi":"10.4081/ejtm.2025.13688","DOIUrl":"10.4081/ejtm.2025.13688","url":null,"abstract":"<p><p>During my PhD, I worked on the neural regulation of mechanical properties fast and slow muscles. This led me to believe that myosins in fast and slow muscles are structurally distinct and that motor nerves regulate the expression of myosin genes. I devised a method for separating intact fast and slow myosins by gel electrophoresis and confirmed their neural regulation. The electrophoresis method was subsequently improved and used to analyse skeletal and cardiac myosin isoforms in various vertebrate species, including marsupials. This led to the discovery of neonatal myosin heavy chain (MyHC), α and β cardiac MyHCs and of the regulation of cardiac MyHCs by thyroid hormone. Antibodies were raised against 2A, 2X, 2B, masticatory and extraocular MyHCs and used to study the expression and regulation of MyHCs in jaw, laryngeal and Extraocular Muscle (EOM) fibres. Antibodies against masticatory myosin enabled the sequencing of masticatory MyHC and masticatory light chain 2 genes. Cross-bridge kinetics of fibres with different myosin isoforms were analysed. Different MyHC isoforms found in jaw-closing muscles across various species reflected evolutionary adaptations to diverse dietary intake, while MyHC expression changes in cardiac and laryngeal muscles with body mass reflected adaptations to changes in their specific metabolic rate. Transplantation experiments on masticatory and EOMs and cross-innervation experiments between laryngeal and somitic muscles revealed that their capacity to express masticatory or extraocular MyHC were myogenically determined but neural impulse patterns also influence MyHC expression. EOMs are the most complex, expressing 11 MyHC isoforms. Some EOM fibres express faster MyHCs in the endplate zone but slower MyHCs at the end segments, an arrangement helping to linearize the saccade. I suggested that during development, primary and secondary extraocular myotubes specify the synaptic inputs of the innervating neurons to generate impulse patterns which regulate the expression of their MyHCs.</p>","PeriodicalId":46459,"journal":{"name":"European Journal of Translational Myology","volume":"35 2","pages":""},"PeriodicalIF":1.8,"publicationDate":"2025-06-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12265422/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144508824","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":"Differences in physical function across dementia subtypes and cognitive decline: a cross-sectional study.","authors":"Kristina Batič, Žiga Kozinc, Polona Rus Prelog","doi":"10.4081/ejtm.2025.13726","DOIUrl":"https://doi.org/10.4081/ejtm.2025.13726","url":null,"abstract":"<p><p>Cognitive impairment significantly affects physical function in dementia patients, but variations across dementia types and levels of cognitive decline remain unclear. This retrospective cross-sectional study included 874 patients (80.75 ± 8.00 years; 60.4% female) with different dementia types and cognitive impairment levels. Six physical function tests were admisterd: the De Morton Mobility Index (DEMMI), 6-minute walking test (6MTW), 10-meter walking test (10MWT), hand grip strength (HGS), 30-second chair stand (30sSTS), and the timed \"Up & Go\" test (TUG). Cognitive function was assessed using the Mini-Mental State Examination (MMSE). The Mild Cognitive Imapirment (MCI) group outperformed Alzheimer's Dementia (AD) and Vascular Dementia (VaD) on DEMMI, 30sSTS and HGS (p < 0.001, η² = 0.012 to 0.052). Differences in the 6MWT were significant in ANOVA but disappeared after adjusting for sex and age (p = 0.066). Severe cognitive impairment was linked to significantly lower physical performance across all measures (p < 0.001, η² = 0.037 to 0.064). Physical function profiles vary by dementia type and cognitive decline level, highlighting the need for targeted interventions to address specific physical challenges.</p>","PeriodicalId":46459,"journal":{"name":"European Journal of Translational Myology","volume":" ","pages":""},"PeriodicalIF":1.8,"publicationDate":"2025-05-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144209858","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":"A randomized interventional study that compares treatments for vitiligo and anti-vitiligo cream.","authors":"Shahzad Shirzad, Mahdis Miladi","doi":"10.4081/ejtm.2025.13787","DOIUrl":"https://doi.org/10.4081/ejtm.2025.13787","url":null,"abstract":"<p><p>This study aimed to evaluate the efficacy of a novel combination therapy, AVC (Anti-Vitiligo Cream), compared to common treatments for vitiligo. A randomized interventional study was conducted on 1,000 patients with confirmed vitiligo, aged 7-70 years. Participants were divided into five groups (200 patients each): oral prednisolone, Tofacitinib, Ruxolitinib, AVC (Anti-Vitiligo Cream), and AVC combined with Tofacitinib. Outcomes were assessed over two years using the Vitiligo Area Scoring Index (VASI), patient satisfaction scores, and clinical observations. AVC-based therapies (Groups 4 and 5) demonstrated superior efficacy and patient satisfaction compared to other treatments. Group 5 (AVC + Tofacitinib) achieved the highest outcomes, with a mean satisfaction score of 90 (IQR: 85-95) and treatment efficacy significantly higher than Group 1 (p < 0.001). Regression analysis identified treatment outcomes and therapy type as significant predictors of satisfaction. AVC (Anti-Vitiligo Cream), particularly in combination with Tofacitinib, represents a groundbreaking approach for managing vitiligo, providing enhanced efficacy and patient satisfaction. These findings support the potential of AVC-based therapies as a standard treatment option.</p>","PeriodicalId":46459,"journal":{"name":"European Journal of Translational Myology","volume":" ","pages":""},"PeriodicalIF":1.8,"publicationDate":"2025-05-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144151705","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":"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":"https://doi.org/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":"2025-05-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144112275","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}