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A neurophysiological and genetic assessment of a case of rapidly progressive scoliosis. 对一例快速进展性脊柱侧凸进行神经生理学和遗传学评估。
IF 1.8 Q3 MEDICINE, RESEARCH & EXPERIMENTAL Pub Date : 2024-12-19 DOI: 10.4081/ejtm.2024.13249
Maria Chiara Maccarone, Matilde Paramento, Edoardo Passarotto, Paola Contessa, Maria Rubega, Emanuela Formaggio, Stefano Masiero

Scoliosis is a three-dimensional spinal deformity characterized by a lateral deviation of at least 10° Cobb, categorized into idiopathic and non-idiopathic forms, caused by identifiable factors like congenital abnormalities, neuromuscular conditions, or genetic syndromes. This case report discusses a 15-year-old girl with growth delay and growth hormone (GH) deficiency who experienced rapid scoliosis progression. Initial evaluations were normal, and electroencephalography (EEG) showed nonspecific alterations, but further assessment revealed a MYH3 gene variant associated with scoliosis, short stature, and distinct facial features. Treatment with a Lyon ARTbrace and tailored exercises stopped curve progression. This case highlights the need for thorough evaluations in atypical AIS cases to uncover potential causes.

脊柱侧凸是一种三维脊柱畸形,其特征是侧偏至少10°Cobb,分为特发性和非特发性形式,由先天性异常、神经肌肉状况或遗传综合征等可识别因素引起。这个病例报告讨论了一个15岁的女孩生长迟缓和生长激素(GH)缺乏谁经历快速脊柱侧凸进展。初步评估正常,脑电图(EEG)显示非特异性改变,但进一步评估显示MYH3基因变异与脊柱侧凸、身材矮小和明显的面部特征相关。使用里昂支架和量身定制的锻炼可以阻止弯曲的进展。该病例强调了对非典型AIS病例进行全面评估以发现潜在病因的必要性。
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引用次数: 0
Mobility Medicine: A call to unify hyper-fragmented specialties by abstracts sent to 2025Pdm3, and typescripts to Ejtm3, and Diagnostics. 移动医学:呼吁通过发送到2025Pdm3的摘要和发送到Ejtm3的打字稿和诊断来统一超碎片化的专业。
IF 1.8 Q3 MEDICINE, RESEARCH & EXPERIMENTAL Pub Date : 2024-12-12 DOI: 10.4081/ejtm.2024.13432
Ugo Carraro, Marie Sophie Alberty, Stephen Anton, Elena Barbieri, Ines Bersch, Bert Blaauw, Gerardo Bosco, Riccardo Forni, Massimo Ganassi, Paolo Gargiulo, Paulo Gentil, Ashraf S Gorgey, Christiaan Leeuwenburgh, Maria Chiara Maccarone, Alessandro Martini, Stefano Masiero, Winfried Mayr, Giuseppe Messina, Aldo Morra, Marco Narici, Kay Ohlendieck, Philippe Perrin, Amber Pond, Marco Quadrelli, Riccardo Rosati, Piero Sestili, Piera Smeriglio, H Lee Sweeney, Daniela Tavian, Gerd Fabian Volk

Mega scientific conferences increasingly suffer from the need for short and poster presentations without discussion. An alternative is to organize workshops in hotels large enough to accommodate all participants. This significantly increases the opportunities for constructive discussion during breakfasts, lunches, dinners and long evenings that can bring together experts of scientific and clinical sub-specialties and young fellows. Time for groups' discussions and new collaborations are increased so as the job opportunities for the young researchers. The Padova Muscle Days have offered in the previous thirty-five years these opportunities, which have matured into innovative and multidisciplinary results to the point that it came naturally to underline it with a neologism now included in the title of the 2025 event: "Mobility Medicine", a discipline not yet officially recognised, that makes explicit the call for rejoining knowledges dispersed in sub-specialisations. The included program of the Padua Days on Muscle and Mobility Medicine 2025 (2025Pdm3) will be hosted at the Hotel Petrarca in Euganean Thermae (Padua, Italy) from 25 to 29 March 2025. It further testifies by listing unique Sessions that it is possible to organize valid countermeasures to the inevitable tendencies towards hyperspecialization that the explosive increase in scientific progress brings with it. Furthermore, the European Journal of Translational Myology and Mobility Medicine (Ejtm3) will accept typescripts on results presented at the 2025Pdm3, together with the Special Section: New Trends in Musculoskeletal Imaging of the MDPI (Basel) Journal Diagnostics, because diagnosis is essential to prevent, manage and follow-up not only neuro-metabolic-muscular disorders, but the unavoidable physiologicical decay of performances in early and late aging. Hoping many others share our dreams, we look forward to meeting you at 2025Pdm3 conference.

大型科学会议越来越需要没有讨论的简短和海报演讲。另一种选择是在足够大的酒店组织研讨会,以容纳所有参与者。这大大增加了在早餐、午餐、晚餐和漫长的夜晚进行建设性讨论的机会,可以将科学和临床亚专业的专家和年轻研究员聚集在一起。小组讨论和新的合作的时间增加了,从而为年轻的研究人员提供了工作机会。在过去的35年里,帕多瓦肌肉日提供了这些机会,这些机会已经成熟到创新和多学科的结果,以至于它很自然地用一个新词来强调它,现在包括在2025年活动的标题中:“运动医学”,这是一个尚未得到官方承认的学科,明确呼吁重新整合分散在子专业领域的知识。2025年帕多瓦肌肉和运动医学日(2025Pdm3)的项目将于2025年3月25日至29日在意大利帕多瓦的Euganean Thermae的佩特拉卡酒店举行。它通过列举独特的会议进一步证明,有可能组织有效的对策,以应对科学进步的爆炸性增长所带来的不可避免的过度专业化趋势。此外,欧洲转化肌学和运动医学杂志(Ejtm3)将接受2025Pdm3上发表的结果的打印稿,以及MDPI(巴塞尔)诊断杂志的特别部分:肌肉骨骼成像的新趋势,因为诊断不仅对预防、管理和随访神经代谢肌肉疾病至关重要,而且对早期和晚期衰老中不可避免的生理衰退也至关重要。希望更多的人分享我们的梦想,我们期待在2025Pdm3会议上与您见面。
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引用次数: 0
A randomized trial on transphyseal vs. physeal-sparing reconstruction in skeletally immature patients: functional outcomes and safety considerations. 骨未成熟患者经骨骺与保留肢体重建的随机试验:功能结局和安全性考虑。
IF 1.8 Q3 MEDICINE, RESEARCH & EXPERIMENTAL Pub Date : 2024-12-06 DOI: 10.4081/ejtm.2024.13221
Vladimir Stefanov, Nedelcho Tzachev, Marian Simeonov, Hristina Milanova, Vasil Obretenov, Kiril Panayotov, Anna Angelova, Jannis Papathanasiou

Reconstruction of the Anterior Cruciate Ligament (ACL) in Skeletally Immature Patients (SIP) poses challenges due to anatomical and developmental factors. This randomized controlled trial evaluated the Functional Recovery (FR) of pediatric patients undergoing ACL Reconstruction (ACLR), comparing Transphyseal Reconstruction (TPR) and physeal-sparing reconstruction (PSR). Forty-three young athletes (mean age 14.1 ± 2.3 years), including 29 boys and 14 girls, were randomized to TPR (n=23) or PSR (n=20). FR was assessed by using the Pediatric International Knee Documentation Committee (Pedi-IKDC) questionnaire at baseline, 8 months, and 12 months post-surgery. At the 12-month follow-up, the TPR group demonstrated a significantly greater improvement in Pedi-IKDC scores, with a 66.95% increase compared to 56.73% in the PSR group, reflecting notable differences in knee function between the groups at both 8 and 12 months (p < 0.001). Additionally, 80% of participants in the TPR group returned to sports, with 56% resuming limited activities, while the PSR group exhibited a slower recovery trajectory. These preliminary findings indicate that TPR provides superior FR and a faster return to sports compared to PSR, underscoring the importance of tailored rehabilitation protocols and long-term follow-up to optimize outcomes in SIP.

由于解剖学和发育因素,骨未成熟患者(SIP)的前交叉韧带(ACL)重建面临挑战。本随机对照试验评估了接受ACL重建术(ACLR)的儿科患者的功能恢复(FR),比较了经骨骺重建术(TPR)和保留肢体重建术(PSR)。43名年轻运动员(平均年龄14.1±2.3岁),其中男生29名,女生14名,随机分为TPR组(n=23)和PSR组(n=20)。FR在基线、术后8个月和12个月采用儿科国际膝关节文献委员会(Pedi-IKDC)问卷进行评估。在12个月的随访中,TPR组在Pedi-IKDC评分上的改善明显更大,与PSR组的56.73%相比,前者提高了66.95%,这反映了两组在8个月和12个月时膝关节功能的显著差异(p < 0.001)。此外,TPR组80%的参与者恢复运动,56%恢复有限的活动,而PSR组表现出较慢的恢复轨迹。这些初步研究结果表明,与PSR相比,TPR提供了更好的FR和更快的运动恢复,强调了定制康复方案和长期随访对优化SIP结果的重要性。
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引用次数: 0
Effects of different swimming styles on postural assessment in mid-level young swimmers. 不同游泳方式对中青年游泳运动员体位评价的影响。
IF 1.8 Q3 MEDICINE, RESEARCH & EXPERIMENTAL Pub Date : 2024-12-04 DOI: 10.4081/ejtm.2024.13150
Vincenzo Cristian Francavilla, Maria Chiara Parisi, Maria Pia Muzzicato, Omar Mingrino, Antonino Zoffoli, Marinella Coco, Donatella Di Corrado

It is well-known that swimming purposes to increase the tonic-postural control. Beyond its physiological advantages, swimming also offers an exclusive platform to explore the complex interplay between body biomechanics and posture. The specific aim of this study was to investigate the effects of main swimming styles on postural balance in young athletes. Forty-one participants, aged between 11 and 15 years old (M= 13, SD= 1.47), were recruited. The training schedule usually consisted of 2/3 h (2.4 ± 0.46) per day (five to six weekly workouts). Measures included a postural assessment to identify the presence of postural deficits and a baropodometric stabilometry to evaluate the center of pressure. Measurements were performed before T0 (baseline), after 6 months (T1), and at the end, after 12 months (T2). Beforehand, all participants undertook identification of the swimming style and pain intensity level. Results showed that Breaststroke and Butterfly athletes had clear improvements in postural balance compared to Backstroke and Freestyle athletes. In conclusion, our results suggest that a detailed knowledge of the different swimming styles plays a significant role in improving balance and postural stability in young athletes, highlighting the fundamental role of the kinesiology in sports traumatology.

众所周知,游泳的目的是增加对张力-姿势的控制。除了生理上的优势,游泳还提供了一个独特的平台来探索身体生物力学和姿势之间复杂的相互作用。本研究的主要目的是探讨主要游泳风格对年轻运动员姿势平衡的影响。招募了41名年龄在11至15岁之间的参与者(M= 13, SD= 1.47)。训练计划通常为每天2/3小时(2.4±0.46)(每周5 - 6次训练)。措施包括姿势评估,以确定姿势缺陷的存在,气压测量稳定测量,以评估压力中心。测量分别在T0(基线)、6个月(T1)和12个月(T2)前进行。在此之前,所有参与者都进行了游泳风格和疼痛强度水平的识别。结果表明,与仰泳和自由泳运动员相比,蛙泳和蝶泳运动员在姿势平衡方面有明显的改善。总之,我们的研究结果表明,详细了解不同的游泳风格对提高年轻运动员的平衡和姿势稳定性起着重要作用,突出了运动机能学在运动创伤学中的基础作用。
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引用次数: 0
OZOILE®: evaluating its impact and future applications in inflammatory dermatological treatments. OZOILE®:评估其在炎症性皮肤病治疗中的影响和未来应用。
IF 1.8 Q3 MEDICINE, RESEARCH & EXPERIMENTAL Pub Date : 2024-12-03 DOI: 10.4081/ejtm.2024.13071
Fabiola Cassaro, Deborah Basilotta, Monica Currò, Pietro Impellizzeri, Carmelo Romeo, Salvatore Arena

Dear Editor, I would like to express my sincere appreciation for the publication and detailed discussion of therapies for dermatological and inflammatory conditions, as exemplified in the recent article "Onychocryptosis: a retrospective study of clinical aspects, inflammation treatment, and pain management using Ozoile as a hydrogel and cream formulation" by Vincenzo Francavilla et al. This insightful study has provided a comprehensive overview of the management of onychocryptosis, a common and often distressing condition, and has highlighted the innovative use of OZOILE® in a clinical setting.1 [...].

尊敬的编辑,我想对Vincenzo Francavilla等人发表的关于皮肤病和炎症治疗的文章表示诚挚的感谢,并对其进行了详细的讨论,例如最近的一篇文章“Onychocryptosis:临床方面、炎症治疗和疼痛管理的回顾性研究,使用Ozoile作为水凝胶和乳膏配方”。这项有见地的研究提供了一个全面的概述管理的甲爪塌陷,一个常见的和经常令人痛苦的条件,并强调了OZOILE®在临床环境中的创新使用。1[…]。
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引用次数: 0
Comparing Percutaneous Coronary Intervention and Coronary Artery Bypass Graft in Treatment of Non-ST-segment Elevation Acute Coronary Syndromes: A Systematic Review and Meta-Analysis Study. 比较经皮冠状动脉介入治疗和冠状动脉旁路移植治疗非 ST 段抬高急性冠状动脉综合征:系统性回顾和元分析研究》。
IF 1.8 Q3 MEDICINE, RESEARCH & EXPERIMENTAL Pub Date : 2024-11-28 DOI: 10.4081/ejtm.2024.12930
Amirmohammad Khalifehsoltani, Enwa Felix Oghenemaro, Ahmed Hussein Zwamel, Rekha M M, Manish Srivastava, Reza Akhavan-Sigari

Aims: The objective of this study is to compare the effectiveness and safety of percutaneous coronary intervention (PCI) and coronary artery bypass grafting (CABG) in the treatment of non-ST-segment elevation acute coronary syndromes (NSTE-ACS).

Methods: A literature search was conducted across PubMed, Scopus, and Web of Science, covering studies up to June 2024. Studies comparing PCI and CABG in patients with NSTE-ACS were included, focusing on clinical outcomes such as mortality, myocardial infarction (MI), cerebrovascular accidents (CVA), and the need for repeat revascularization. Data extraction and quality assessment were performed. Statistical analysis was conducted using R software, with the Mantel-Haenszel method and random-effects model employed to pool effect sizes and assess heterogeneity.

Results: A total of 15 studies met the eligibility criteria, including 48,891 patients. The pooled risk ratio (RR) for mortality showed no significant difference between PCI and CABG (RR = 1.09, 95% CI: 0.90-1.19, p = 0.28). CABG was associated with a significantly lower risk of subsequent MI (RR = 0.56, 95% CI: 0.38-0.61, p < 0.01) and the need for repeat revascularization (RR = 2.94, 95% CI: 2.30-3.76, p < 0.01). Conversely, PCI had a lower associated risk of CVA (RR = 0.58, 95% CI: 0.42-0.79, p < 0.01). High heterogeneity was observed in mortality outcomes, indicating variability among studies.

Conclusion: The findings suggest that while PCI and CABG have comparable mortality risks in NSTE-ACS patients, CABG offers superior protection against myocardial infarction and the need for repeat revascularization, whereas PCI is associated with a lower risk of cerebrovascular accidents. These results underscore the importance of individualized patient assessment in choosing the optimal revascularization strategy, considering patient-specific risk factors and clinical profiles.

目的:本研究旨在比较经皮冠状动脉介入治疗(PCI)和冠状动脉旁路移植术(CABG)治疗非ST段抬高型急性冠状动脉综合征(NSTE-ACS)的有效性和安全性:方法:在 PubMed、Scopus 和 Web of Science 上进行文献检索,涵盖截至 2024 年 6 月的研究。方法:在PubMed、Scopus和Web Science上进行文献检索,涵盖截至2024年6月的研究。纳入的研究对NSTE-ACS患者的PCI和CABG进行了比较,重点关注死亡率、心肌梗死(MI)、脑血管意外(CVA)和重复血管重建需求等临床结果。对数据进行了提取和质量评估。使用 R 软件进行统计分析,采用 Mantel-Haenszel 法和随机效应模型来汇集效应大小和评估异质性:共有 15 项研究符合资格标准,包括 48891 名患者。综合死亡率风险比(RR)显示,PCI 和 CABG 没有显著差异(RR = 1.09,95% CI:0.90-1.19,P = 0.28)。CABG 与后续心肌梗死风险(RR = 0.56,95% CI:0.38-0.61,p < 0.01)和重复血管再通需求(RR = 2.94,95% CI:2.30-3.76,p < 0.01)显著降低相关。相反,PCI 的相关 CVA 风险较低(RR = 0.58,95% CI:0.42-0.79,p <0.01)。死亡率结果存在高度异质性,表明不同研究之间存在差异:研究结果表明,虽然PCI和CABG在NSTE-ACS患者中的死亡率风险相当,但CABG能更好地防止心肌梗死和重复血管再通的需要,而PCI与较低的脑血管意外风险相关。这些结果突出表明,在选择最佳血管再通策略时,考虑患者的特异性风险因素和临床特征,对患者进行个体化评估非常重要。
{"title":"Comparing Percutaneous Coronary Intervention and Coronary Artery Bypass Graft in Treatment of Non-ST-segment Elevation Acute Coronary Syndromes: A Systematic Review and Meta-Analysis Study.","authors":"Amirmohammad Khalifehsoltani, Enwa Felix Oghenemaro, Ahmed Hussein Zwamel, Rekha M M, Manish Srivastava, Reza Akhavan-Sigari","doi":"10.4081/ejtm.2024.12930","DOIUrl":"https://doi.org/10.4081/ejtm.2024.12930","url":null,"abstract":"<p><strong>Aims: </strong>The objective of this study is to compare the effectiveness and safety of percutaneous coronary intervention (PCI) and coronary artery bypass grafting (CABG) in the treatment of non-ST-segment elevation acute coronary syndromes (NSTE-ACS).</p><p><strong>Methods: </strong>A literature search was conducted across PubMed, Scopus, and Web of Science, covering studies up to June 2024. Studies comparing PCI and CABG in patients with NSTE-ACS were included, focusing on clinical outcomes such as mortality, myocardial infarction (MI), cerebrovascular accidents (CVA), and the need for repeat revascularization. Data extraction and quality assessment were performed. Statistical analysis was conducted using R software, with the Mantel-Haenszel method and random-effects model employed to pool effect sizes and assess heterogeneity.</p><p><strong>Results: </strong>A total of 15 studies met the eligibility criteria, including 48,891 patients. The pooled risk ratio (RR) for mortality showed no significant difference between PCI and CABG (RR = 1.09, 95% CI: 0.90-1.19, p = 0.28). CABG was associated with a significantly lower risk of subsequent MI (RR = 0.56, 95% CI: 0.38-0.61, p < 0.01) and the need for repeat revascularization (RR = 2.94, 95% CI: 2.30-3.76, p < 0.01). Conversely, PCI had a lower associated risk of CVA (RR = 0.58, 95% CI: 0.42-0.79, p < 0.01). High heterogeneity was observed in mortality outcomes, indicating variability among studies.</p><p><strong>Conclusion: </strong>The findings suggest that while PCI and CABG have comparable mortality risks in NSTE-ACS patients, CABG offers superior protection against myocardial infarction and the need for repeat revascularization, whereas PCI is associated with a lower risk of cerebrovascular accidents. These results underscore the importance of individualized patient assessment in choosing the optimal revascularization strategy, considering patient-specific risk factors and clinical profiles.</p>","PeriodicalId":46459,"journal":{"name":"European Journal of Translational Myology","volume":" ","pages":""},"PeriodicalIF":1.8,"publicationDate":"2024-11-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142740913","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}
引用次数: 0
Low level laser therapy and rheumatoid arthritis: a systematic review and meta-analysis study. 低水平激光疗法与类风湿性关节炎:系统回顾与荟萃分析研究。
IF 1.8 Q3 MEDICINE, RESEARCH & EXPERIMENTAL Pub Date : 2024-11-21 DOI: 10.4081/ejtm.2024.13107
Amirali Salajegheh, Fatemeh Yazdi Yahyaabadi, Farzaneh Yazdi

This systematic review and meta-analysis aimed to evaluate the efficacy of Low-Level Laser Therapy (LLLT) in the treatment of Rheumatoid Arthritis (RA), focusing on its effects on pain relief, grip strength, and morning stiffness. A comprehensive search was conducted across PubMed, Scopus, and Web of Science, yielding 3,111 articles. After eliminating duplicates and screening titles and abstracts, 94 full-text articles were assessed, and 23 studies met the eligibility criteria for inclusion in the systematic review. Of these, 22 studies were included in the meta-analysis. Data were extracted and analyzed using a random-effects model, with pooled Mean Differences (MD) calculated for the primary outcomes. The meta-analysis revealed that LLLT did not significantly reduce pain compared to placebo (MD = 0.00, 95% CI [-0.09, 0.09], p = 0.97). However, LLLT significantly improved grip strength (MD = -12.38, 95% CI [-17.42, -7.34], p < 0.01) and reduced morning stiffness (MD = -0.84, 95% CI [-1.33, -0.36], p < 0.01), despite substantial heterogeneity in these outcomes. LLLT shows promise in improving grip strength and reducing morning stiffness in RA patients, though it does not significantly impact pain relief. These findings highlight the potential role of LLLT as an adjunctive treatment for RA, with further research needed to optimize treatment protocols and clarify underlying mechanisms.

本系统综述和荟萃分析旨在评估低强度激光疗法(LLLT)治疗类风湿性关节炎(RA)的疗效,重点关注其对疼痛缓解、握力和晨僵的影响。我们在 PubMed、Scopus 和 Web of Science 上进行了全面搜索,共搜索到 3,111 篇文章。在剔除重复文章、筛选标题和摘要后,评估了 94 篇全文文章,有 23 项研究符合纳入系统综述的资格标准。其中,22 项研究被纳入荟萃分析。采用随机效应模型提取和分析数据,并计算主要结果的集合平均差(MD)。荟萃分析表明,与安慰剂相比,LLLT 并未显著减轻疼痛(MD = 0.00,95% CI [-0.09, 0.09],P = 0.97)。不过,LLLT 能明显改善握力(MD = -12.38,95% CI [-17.42,-7.34],p <0.01)并降低晨僵程度(MD = -0.84,95% CI [-1.33,-0.36],p <0.01),尽管这些结果存在很大的异质性。LLLT在改善RA患者的握力和减轻晨僵方面显示出前景,尽管它对疼痛缓解没有显著影响。这些研究结果突显了 LLLT 作为 RA 辅助治疗的潜在作用,但还需要进一步的研究来优化治疗方案并阐明其潜在机制。
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引用次数: 0
Vitamin D receptor gene polymorphisms in patients with relapsing multiple sclerosis. 复发性多发性硬化症患者的维生素 D 受体基因多态性。
IF 1.8 Q3 MEDICINE, RESEARCH & EXPERIMENTAL Pub Date : 2024-11-21 DOI: 10.4081/ejtm.2024.12993
Maryam Milanifard, Soraya Mehrabi, Reza Ahadi, Mohsen Nabiuni, Samaneh Azimi Souteh, Mohammad Taghi Joghataei

The relationship between the vitamin D receptor (VDR) gene and many pathogenic pathways in relapsing-remitting multiple sclerosis (RRMS) remains unclear. Given the significance of the topic, we conducted this study to explore the correlation between vitamin D receptor gene polymorphisms and clinical and inflammatory factors in patients suffering from relapsing-remitting multiple sclerosis. The current research is a case/control study conducted based on the Helsinki Ethical Principles. RRMS disease was confirmed based on history, clinical symptoms, radiological signs and neurologist diagnosis. The research population consisted of healthy people and patients with RRMS who were referred to Hazrat Rasool Akram Hospital between 2021 and 2023. For each person participating in the study (RRMS patient and healthy), five milliliters of peripheral blood containing the anticoagulant EDTA was collected. Polymerase chain reaction was performed using two specific and appropriate oligonucleotide primers. The restriction fragment length polymorphism technique was used, one of the standard methods for identifying polymorphisms. Statistical analysis was performed using SPSS software version 23. The odds ratio and 95% confidence limits were calculated. The SNP Analyzer software was used to analyze the allele frequency of each polymorphism in healthy and RRMS individuals and compare the values. Prism version 5 software was used to draw diagrams. In the present study, a statistically significant difference was observed between the percentage of FokI genotypes in RRMS patients and healthy individuals. FokI polymorphism showed a significantly increased risk with an odds ratio of 7.28 in patients with the FF genotype compared to healthy individuals. ApaI, TaqI, and BsmI were not significantly different between the two groups. Based on the findings of the present study, FokI polymorphism showed a significant risk increase in RRMS patients with FF genotype compared to healthy individuals.

维生素 D 受体(VDR)基因与复发性多发性硬化症(RRMS)的多种致病途径之间的关系仍不清楚。鉴于该课题的重要性,我们开展了这项研究,以探讨复发性多发性硬化症患者体内维生素 D 受体基因多态性与临床和炎症因素之间的相关性。本研究是根据赫尔辛基伦理原则进行的病例/对照研究。根据病史、临床症状、放射学体征和神经科医生的诊断确认为复发性多发性硬化症。研究对象包括 2021 年至 2023 年期间转诊到 Hazrat Rasool Akram 医院的健康人和 RRMS 患者。参加研究的每个人(RRMS 患者和健康人)都要采集 5 毫升含有抗凝剂 EDTA 的外周血。聚合酶链反应使用两种特异性和适当的寡核苷酸引物进行。限制性片段长度多态性技术是鉴定多态性的标准方法之一。统计分析使用 SPSS 软件 23 版进行。计算了几率比例和 95% 的置信区间。使用 SNP Analyzer 软件分析健康人和 RRMS 患者中每种多态性的等位基因频率,并对数值进行比较。使用 Prism 5 版软件绘制图表。本研究观察到,RRMS 患者和健康人的 FokI 基因型比例存在显著统计学差异。FokI多态性显示,与健康人相比,FF基因型患者的风险明显增加,几率比为7.28。ApaI、TaqI和BsmI在两组之间没有明显差异。根据本研究的结果,与健康人相比,FF 基因型 RRMS 患者的 FokI 多态性风险明显增加。
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引用次数: 0
Efficacy of electrical stimulation of the zygomaticus muscle in complete facial paralysis: evidence from facial grading and automated image analysis. 电刺激颧肌对完全性面瘫的疗效:面部分级和自动图像分析的证据。
IF 1.8 Q3 MEDICINE, RESEARCH & EXPERIMENTAL Pub Date : 2024-11-15 DOI: 10.4081/ejtm.2024.13161
Johannes Krauß, Gabriel Meincke, Maren Geitner, Anna-Maria Kuttenreich, Jan Beckmann, Dirk Arnold, Jonas Ballmaier, Thomas Lehmann, Winfried Mayr, Orlando Guntinas-Lichius, Gerd Fabian Volk

Surface Functional Electrical Stimulation (FES) is a well-studied intervention for multiple muscular disorders. However, it is still controversially discussed as a complementary therapy for complete facial paralysis. The aim of this intervention is to test a daily home-based ES concept as a pilot study regarding safety, feasibility, and effects on facial functionality and symmetry. In a prospective single-centre pilot study, 10 patients (median 61 years, denervation 130 d) with complete peripheral facial paralysis performed home-based FES of the affected lateral mouth region Stimulation parameters, facial paralysis scores and standardised photographs were assessed in monthly follow-ups. No serious adverse events appeared. Stimulation parameters could be constantly increased indicating effective muscle training while subjectively perceived functionality of the face improved. Thus, smile angle of the paralysed side improved as well. FES is a safe therapy model for application in facial nerve paralysis patients. A feasible stimulation protocol could be applied, which improved the functionality and symmetry of the stimulated facial region. A future controlled, randomised and double-blind follow-up study is needed to investigate these initial results in a further evolved replicable setting.

表面功能性电刺激(FES)是一种经过充分研究的治疗多种肌肉疾病的干预方法。然而,将其作为治疗完全性面瘫的辅助疗法仍存在争议。这项干预措施的目的是测试日常家用 ES 概念的安全性、可行性以及对面部功能和对称性的影响。在一项前瞻性的单中心试点研究中,10 名患有完全性周围性面瘫的患者(中位数 61 岁,去神经130 天)在家中对受影响的侧口区域进行了电刺激治疗,并在每月的随访中对刺激参数、面瘫评分和标准化照片进行了评估。未出现严重不良事件。刺激参数可持续增加,表明肌肉训练有效,同时主观感觉面部功能有所改善。因此,瘫痪一侧的微笑角度也得到了改善。FES 是一种安全的治疗模式,适用于面神经麻痹患者。可行的刺激方案可以改善受刺激面部区域的功能和对称性。今后需要进行对照、随机和双盲跟踪研究,以便在进一步发展的可复制环境中对这些初步结果进行调查。
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引用次数: 0
Deceleration of denervated facial muscle atrophy through functional electrical stimulation: a sonographic quantification in patients with facial nerve paralysis. 通过功能性电刺激减缓失去神经支配的面肌萎缩:面神经麻痹患者的声学量化。
IF 1.8 Q3 MEDICINE, RESEARCH & EXPERIMENTAL Pub Date : 2024-11-13 DOI: 10.4081/ejtm.2024.13162
Gabriel Meincke, Johannes Krauß, Maren Geitner, Anna-Maria Kuttenreich, Dirk Arnold, Jonas Ballmaier, Thomas Lehmann, Winfried Mayr, Orlando Guntinas-Lichius, Gerd Fabian Volk

Functional Electrical Stimulation (FES) is an established intervention for a range of muscular and neurological disorders that has already been studied in numerous publications. However, its application to Peripheral Facial nerve Paralysis (PFP) still needs to be sufficiently investigated. As the first approach known to the authors, this study examines the effect of FES on the facial muscles in complete PFP using ultrasonography as a means of observation. In a prospective single-center observational pilot study, ten patients with complete PFP, confirmed by needle-electromyography (EMG), performed FES of the affected lateral mouth region at home twice daily for 20 minutes. The facial muscles' Cross-Sectional Area (CSA) was regularly assessed using sonographic quantification. While the CSA of most non-stimulated muscles decreased considerably during ongoing paralysis, a significant CSA increase of the Zygomaticus Muscle (ZYG), which was regularly subjected to FES, could be demonstrated. FES can halt the atrophy of denervated ZYG and potentially other facial muscles. Further investigations with a more significant patient collective are recommended. From now on, FES could be established as an additive method in the non-invasive treatment of PFP.

功能性电刺激(FES)是一种治疗一系列肌肉和神经疾病的成熟干预方法,已有大量文献对其进行了研究。然而,它在周围性面神经麻痹(PFP)中的应用仍有待充分研究。作为作者所知的第一种方法,本研究使用超声波成像作为观察手段,研究了 FES 对完全性面神经麻痹患者面部肌肉的影响。在一项前瞻性单中心观察试验研究中,10 名经针刺肌电图(EMG)确认的完全性 PFP 患者在家中对受影响的侧口区域进行了 FES 治疗,每天两次,每次 20 分钟。面部肌肉的横截面积(CSA)通过超声波定量定期进行评估。在持续瘫痪期间,大多数非受刺激肌肉的CSA显著下降,但定期接受FES治疗的颧骨肌(ZYG)的CSA显著增加。FES 可以阻止失去神经支配的颧骨肌以及其他面部肌肉的萎缩。建议对更多患者进行进一步研究。从现在起,FES 可作为一种非侵入性治疗 PFP 的辅助方法。
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European Journal of Translational Myology
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