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220VP Wearable sensors to evaluate and monitor neuromuscular patients in real world environment 220VP 在现实环境中评估和监测神经肌肉患者的可穿戴传感器
IF 2.7 4区 医学 Q2 CLINICAL NEUROLOGY Pub Date : 2024-10-01 DOI: 10.1016/j.nmd.2024.07.071
E. Diella , F. Storm , L. Molteni , M. Delle Fave , G. Canella , G. Meola , E. Biffi , M. D'Angelo
Wearable sensors are becoming increasingly popular for complementing standard clinical assessments of gait deficits and for remote monitoring patient's motor function in real world. Monitoring gait during the 6MWT offers an opportunity to investigate the dynamic changes that occur in prolonged walking. Besides, continuous monitoring at home gives information on patient's daily physical activity. Our first aim is to determine if gait parameters worsen during sustained walking in patients affected by myotonic dystrophy (MD). Our secondary aim is to evaluate the feasibility of acquiring physical activity biomarkers in daily living conditions. We collected data of 30 patients with MD during a standard 6MWT wearing a sensor (GSensor, BTS) at L5 level. Gait parameters were extracted from raw signals, corresponding to early, middle and late segments of the 6MWT and we applied non-parametric tests to compare gait segments. Home monitoring for extraction of physical activity data will be performed using a wearable sensor (DynaPort 7, McRoberts) worn consecutively for 7-days. Preliminary results show an increase in gait acceleration and significant changes in smoothness and stability of gait in the MD group between the early and the late section of the 6MWT. Our preliminary results suggest that gait parameters associated to fatigability can be measured during a 6MWT using a wearable device and that the method allows to highlight variations during sections of the 6MWT in patients with MD. Evaluating patients with a neuromuscular disease in their ecologic setting could significantly impact rehabilitation management with the aim of promoting an active lifestyle.
可穿戴式传感器在补充步态缺陷的标准临床评估和远程监控患者运动功能方面越来越受欢迎。在 6MWT 过程中对步态进行监测为研究长时间行走过程中发生的动态变化提供了机会。此外,在家中进行连续监测还能了解患者的日常运动情况。我们的首要目标是确定肌张力营养不良症(MD)患者在持续行走过程中步态参数是否会恶化。我们的第二个目的是评估在日常生活条件下获取体力活动生物标志物的可行性。我们收集了 30 名患有肌营养不良症的患者的数据,他们在标准的 6MWT 中佩戴了一个位于 L5 水平的传感器(GSensor,BTS)。我们从原始信号中提取了与 6MWT 早期、中期和晚期相对应的步态参数,并应用非参数检验对步态分段进行了比较。我们将使用可穿戴传感器(DynaPort 7,麦克罗伯茨公司)进行连续 7 天的家庭监测,以提取体力活动数据。初步结果显示,在 6MWT 早期和晚期部分之间,MD 组的步态加速度增加,步态的平稳性和稳定性也发生了显著变化。我们的初步结果表明,使用可穿戴设备可以在 6MWT 过程中测量与疲劳相关的步态参数,而且这种方法可以突出显示 MD 患者在 6MWT 阶段的变化。在神经肌肉疾病患者的生态环境中对其进行评估,可对旨在促进积极生活方式的康复管理产生重大影响。
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引用次数: 0
222P Development of a standardized information model for rare neuromuscular diseases 222P 建立罕见神经肌肉疾病标准化信息模型
IF 2.7 4区 医学 Q2 CLINICAL NEUROLOGY Pub Date : 2024-10-01 DOI: 10.1016/j.nmd.2024.07.073
E. Gazzerro , M. Hübner , E. Nyoungui , D. Krefting , S. Spuler , J. Zschüntzsch , J. Schepers , R. Röttger
New promising genetic and cell-based therapeutic approaches are becoming a reality for untreatable neuromuscular disorders. However, their effective translation to clinical practice is impeded by various challenges, including delays in precise genetic diagnosis, heterogeneous guidelines for longitudinal monitoring, inconsistent capture of Patients-Reported Outcome Measures, documentation of data in incompatible formats and disparate data documentation practices across countries. Leveraging methods like machine learning and AI-based algorithms for diagnostics and post-marketing surveillance necessitate organized and standardized data. In this study, we aimed to create a comprehensive, standardized information model for clinical data, facilitating research and international collaboration efforts. The documentation addresses: 1. Easy and coherent access to clinical, genetic, functional, histological data and imaging findings with the use of branching logic for data capture, minimizing documentation effort 2. Data comparability and international application through coding using the international terminology SNOMED CT and HPO terms 3. User-friendly data collection and subsequent analysis regardless of linguistic differences through the development of value sets with frequent values for the individual data elements 4. Documentation of negative findings and exclusions 5. Possibility of implementation in different systems and environments, thus guaranteeing comparability of the data. Embracing digital health technologies paves the way for streamlining data capture, facilitating knowledge sharing, improving interoperability between electronic health record systems. Addressing the challenges requires consideration of the complex nature of neuromuscular diseases, collaboration among stakeholders, iterative refinement of the information model, enhancement of interoperability and incorporation of innovative solutions such as patient engagement strategies and digital health technologies.
对于无法治疗的神经肌肉疾病,基于基因和细胞的新型治疗方法正在成为现实。然而,这些方法在临床实践中的有效转化却受到各种挑战的阻碍,其中包括精确基因诊断的延迟、纵向监测指南的不统一、患者报告结果衡量标准的捕获不一致、数据记录格式的不兼容以及各国数据记录实践的差异。利用机器学习和基于人工智能的算法等方法进行诊断和上市后监测需要有组织的标准化数据。在这项研究中,我们旨在为临床数据创建一个全面、标准化的信息模型,以促进研究和国际合作工作。文献涉及1.通过数据采集的分支逻辑,方便、连贯地获取临床、遗传、功能、组织学数据和成像结果,最大限度地减少记录工作 2.通过使用国际术语 SNOMED CT 和 HPO 术语进行编码,实现数据的可比性和国际应用 3.通过为单个数据元素开发具有常用值的值集,实现方便用户的数据收集和后续分析,而不受语言差异的影响 4.记录阴性结果和排除情况 5.可在不同的系统和环境中实施,从而保证数据的可比性。数字医疗技术为简化数据采集、促进知识共享、提高电子健康记录系统之间的互操作性铺平了道路。要应对这些挑战,就必须考虑到神经肌肉疾病的复杂性、利益相关者之间的合作、信息模型的反复完善、互操作性的增强以及创新解决方案的融入,如患者参与策略和数字医疗技术。
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引用次数: 0
227P Advancing neuromuscular education and care within physiotherapy: POD-NMD (Physiotherapy Online Delivery - Neuromuscular Diseases) 227P 在物理治疗中推进神经肌肉教育和护理:POD-NMD(物理治疗在线交付--神经肌肉疾病)
IF 2.7 4区 医学 Q2 CLINICAL NEUROLOGY Pub Date : 2024-10-01 DOI: 10.1016/j.nmd.2024.07.078
C. Slim , D. Allison , A. Mayhew
Providing physiotherapists with updated knowledge and developments in neuromuscular conditions is crucial as advancements in therapies progress. POD-NMD therefore aims to:
  • Deliver a digital suite of curated, educational resources for physiotherapists seeking the best management strategies for their patients.
  • Upskill physiotherapists to reliably deliver functional assessments and accurately record outcome measures.
  • Raise awareness of the additional care needs and concerns amongst patients and identify strategies that support patient independence with dignity.
  • Provide greater visibility of physiotherapy training achievements and understanding of user profiles via platform analytics.
  • Foster new and international collaborations to share best practice opportunities across borders.
Launched in December 2023, POD-NMD replaced the existing OPENTACT website and additionally introduced POD-LMS, an e-learning platform with thirteen interactive courses that generate certificates and digital badges for professional CPD portfolios. The POD-NMD steering group oversees progress, ensuring alignment with the evolving educational needs for therapists within NMD communities. Partnerships are key to delivering high-quality resources and collaborations for 2024 have included the development of continence care resources (HAP-PEE) with the Danish Rehabilitation Centre for Neuromuscular Diseases for use amongst both physiotherapists and patients. In addition to this, collaborations with NHS Greater Glasgow & Clyde have developed resources on Falls Management and Timed Tests, as well as an interactive e-learning module for therapists performing the North Star Ambulatory Assessment with Duchenne patients. Consequently, within the first three months of launching, POD-NMD garnered over 4,200 visits and 11,400 page views, with 27% of the viewership originating from regions beyond Europe and North America.
随着疗法的进步,为理疗师提供神经肌肉疾病的最新知识和发展动态至关重要。因此,POD-NMD 的目标是:-为物理治疗师提供一套精心策划的数字教育资源,帮助他们为患者寻求最佳管理策略。-POD-NMD 于 2023 年 12 月推出,取代了现有的 OPENTACT 网站,还引入了 POD-LMS,这是一个电子学习平台,提供 13 门互动课程,可为专业 CPD 档案生成证书和数字徽章。POD-NMD 指导小组负责监督进展情况,确保与 NMD 社区内治疗师不断变化的教育需求保持一致。合作伙伴关系是提供高质量资源的关键,2024 年的合作包括与丹麦神经肌肉疾病康复中心合作开发失禁护理资源(HAP-PEE),供理疗师和患者使用。此外,与英国国家医疗服务系统(NHS)大格拉斯哥及克莱德地区合作开发了跌倒管理和定时测试资源,以及供治疗师对杜兴患者进行 "北极星 "非卧床评估的互动电子学习模块。因此,POD-NMD 在推出后的头三个月内就获得了超过 4,200 次访问和 11,400 次页面浏览,其中 27% 的浏览量来自欧洲和北美以外的地区。
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引用次数: 0
268P Age and sex affect human skeletal muscle secretome. 268P 年龄和性别对人体骨骼肌分泌组的影响
IF 2.7 4区 医学 Q2 CLINICAL NEUROLOGY Pub Date : 2024-10-01 DOI: 10.1016/j.nmd.2024.07.086
B. Crisol , N. Pinzon , J. Orio , L. Gaut-Serey , J. Ohana , M. Bensalah , C. Peterson , G. Butler-Browne , V. Mouly , A. Bigot , C. Trollet
Aging is a gradual decline in physiological well-being, resulting in diminished tissue functionality. During aging, skeletal muscle strength and mass decrease and this is accompanied by a decrease in regenerative capacity. Muscle is a secretory organ capable of regulating its own function and/or influencing the activity of other tissues via myokines. In this context, how muscle secretion is modified during aging and how this affects muscle regeneration and homeostasis is still not known. Here, combining bioinformatic analysis and in vitro experiments we have identified alterations in the secretome of human muscle cells during aging. We have analyzed the medium of differentiated muscle cells isolated from muscles of young and old human subjects by proteomic approaches and we have identified 127 proteins differentially secreted between the young and old samples. The old cells presented already known aging phenotypes, as increased in the lipids stock, defect in differentiation and impaired mitochondrial function. Interestingly, more proteins are increasingly secreted upon aging than less secreted, suggesting that old cells adapt to aging mainly by modifying its secretion. In parallel, it is known that men and women respond differently to muscle aging and present different DNA methylation and gene expression profiles. Here we also identified that the secreted proteins were also affected by the sex-bias, especially in the young donors’ samples. Using in silico transcriptome analyses from men and women using the Genotype-Tissue Expression study of young adults (12 females and 30 males) and older adults (6 females and 12 males) we observed that besides age, sex acts as a major source of variation in the muscle transcriptome. Taking sex as an important factor, we identified in our data that sex affects muscle secretome, but not muscle proteome. Altogether, these results suggest that aging and sex difference have major effects in the muscle secretome and now we aim to identify specific targets to reduce the effects of muscle aging in the elderly, by testing in vitro the proteins of interest identified in the muscle secretome.
衰老是生理机能的逐渐衰退,导致组织功能减退。在衰老过程中,骨骼肌的力量和质量会下降,同时再生能力也会下降。肌肉是一个分泌器官,能够调节自身功能和/或通过肌动素影响其他组织的活动。在这种情况下,肌肉分泌如何在衰老过程中发生变化,以及这种变化如何影响肌肉再生和平衡,目前仍不得而知。在此,我们结合生物信息学分析和体外实验,确定了衰老过程中人类肌肉细胞分泌组的变化。我们通过蛋白质组学方法分析了从年轻人和老年人肌肉中分离出来的分化肌肉细胞的培养基,发现了年轻人和老年人样本中分泌不同的 127 种蛋白质。老年细胞呈现出已知的衰老表型,如脂质存量增加、分化缺陷和线粒体功能受损。有趣的是,衰老时分泌增加的蛋白质多于分泌减少的蛋白质,这表明老细胞主要通过改变其分泌来适应衰老。与此同时,已知男性和女性对肌肉衰老的反应不同,DNA 甲基化和基因表达谱也不同。在这里,我们还发现分泌蛋白也受到性别偏见的影响,尤其是在年轻的捐献者样本中。通过对年轻成年人(12 名女性和 30 名男性)和年长成年人(6 名女性和 12 名男性)进行基因型-组织表达研究,对男性和女性的转录组进行硅分析,我们发现除了年龄之外,性别也是肌肉转录组变化的一个主要来源。将性别作为一个重要因素,我们在数据中发现性别会影响肌肉分泌组,但不会影响肌肉蛋白质组。总之,这些结果表明,衰老和性别差异对肌肉分泌组有重大影响,现在我们的目标是通过体外测试肌肉分泌组中发现的相关蛋白质,找出减少老年人肌肉衰老影响的特定靶点。
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引用次数: 0
214P The 10-meter model: predicting the 6-minute walk test in Pompe disease 214P 10 米模型:预测庞贝氏症的 6 分钟步行测试
IF 2.7 4区 医学 Q2 CLINICAL NEUROLOGY Pub Date : 2024-10-01 DOI: 10.1016/j.nmd.2024.07.065
A. El Kaim, F. Fer, J. Hogrel
The 6-Minute Walk Test (6MWT) is a widely used outcome measure to evaluate functional exercise capacity in patients with Pompe disease, a rare genetic disorder that severely impairs muscular and respiratory function. Despite its extensive use, the test can be particularly challenging for some patients due to the considerable effort it requires. This retrospective study aimed to analyze data acquired during the follow-up of 203 patients with Pompe disease across 1481 complete visits. Correlation analyses and stepwise regressions were performed to test the associations between variables. Each of the visits potentially included the 6MWT, the 10-meter walk test (10mWT), the Motor Function Measure (MFM-32), the maximum voluntary isometric contraction (MVIC) in extension and flexion of knee (KE/KF) and elbow (EE/EF), timed tests as chair stand time (CST), and pulmonary functional tests (PFT) such as functional vital capacity (FVC), maximum expiratory pressure (MEP) and maximum inspiratory pressure (MIP). Clinical and anthropometric data were also collected. Pearson's correlation analysis was utilized to construct a correlation matrix and test associations with the 6MWT. Variables that showed a significant strong correlation with the 6MWT underwent a regression analysis using a subset comprising one-third of the data (training phase) to propose predictive equation to calculate the theoretical 6MWT speed. Validation was performed on the two-thirds of the data. Three models were developed based on the analysis. The single parameter model included only the 10mWT speed, which was the variable most correlated with the 6MWT speed (ρ = 0.85), yielding a R² of 0.70. The five-parameter model incorporated anthropometric variables as age and sex and the CST and knee flexion (KF) to increase prediction, increase the predictive accuracy (adjusted R²=0.78). The Six parameter model. A model more complete including 10mWT, age, sex, CST, KF and MFM was validated with an adjusted R² of 0.83. The 6-Minute Walk Test can be challenging for some patients with neuromuscular diseases due to their substantial fatigue. Simpler and less tiring alternatives, such as the 10-Meter Walk Test, or models combining standard clinical assessments, may be better options to reliably evaluate the functional capacity of these patients in a manner suited to their condition. The adoption of appropriate assessment tools is essential to monitor the progression of these complex diseases and guide management strategies effectively.
庞贝氏症是一种严重损害肌肉和呼吸功能的罕见遗传性疾病,6 分钟步行测试 (6MWT) 是评估庞贝氏症患者功能锻炼能力的一种广泛使用的结果测量方法。尽管该测试被广泛使用,但由于需要付出相当大的努力,因此对一些患者来说特别具有挑战性。这项回顾性研究旨在分析 203 名庞贝病患者在 1481 次完整就诊中的随访数据。研究人员进行了相关分析和逐步回归,以检验变量之间的关联。每次随访都可能包括 6MWT、10 米步行测试 (10mWT)、运动功能测量 (MFM-32)、膝关节 (KE/KF) 和肘关节 (EE/EF) 的最大自主等长收缩 (MVIC)、椅子站立时间 (CST) 等计时测试,以及肺功能测试 (PFT),如功能生命容量 (FVC)、最大呼气压力 (MEP) 和最大吸气压力 (MIP)。此外,还收集了临床和人体测量数据。利用皮尔逊相关分析构建了相关矩阵,并检验了与 6MWT 的相关性。对与 6MWT 呈显著强相关性的变量进行回归分析,使用占三分之一数据的子集(训练阶段)提出预测方程,以计算理论 6MWT 速度。对三分之二的数据进行了验证。根据分析结果建立了三个模型。单参数模型只包括 10mWT 速度,这是与 6MWT 速度最相关的变量(ρ = 0.85),R² 为 0.70。五参数模型纳入了年龄、性别、CST 和膝关节屈曲(KF)等人体测量变量,增加了预测的准确性(调整后的 R²=0.78)。六参数模型。一个包括 10mWT、年龄、性别、CST、KF 和 MFM 的更完整的模型得到了验证,调整后的 R² 为 0.83。对于一些神经肌肉疾病患者来说,6 分钟步行测试会让他们非常疲劳,因此具有挑战性。更简单、不太累人的替代方法,如 10 米步行测试,或结合标准临床评估的模型,可能是更好的选择,能以适合这些患者病情的方式可靠地评估他们的功能能力。采用适当的评估工具对于监测这些复杂疾病的进展和有效指导管理策略至关重要。
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引用次数: 0
Scientific Title Page 科学标题页
IF 2.7 4区 医学 Q2 CLINICAL NEUROLOGY Pub Date : 2024-10-01 DOI: 10.1016/S0960-8966(24)00954-4
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引用次数: 0
206P A quality improvement proposal: improving care management of complex neuromuscular patients – establishing a neuromuscular complex care centre as part of the translational neuromuscular pathway 206P 质量改进建议:改善复杂神经肌肉患者的护理管理--建立复杂神经肌肉护理中心,作为神经肌肉转化途径的一部分
IF 2.7 4区 医学 Q2 CLINICAL NEUROLOGY Pub Date : 2024-10-01 DOI: 10.1016/j.nmd.2024.07.057
C. Marini Bettolo, K. Wong, S. Segovia, R. Muni Lofra, M. Elseed
Patients with complex neuromuscular diseases require multidisciplinary care which results in multiple outpatient hospital appointments. The lack of coordination may result in unnecessary unplanned admissions and delay in timely care provision. The multiple hospital appointments add to the burden of care for patients and their caregivers and may have an impact on QoL and participation in ADLs. One-stop shop model of care has been implemented in other centres and proven to be a successful model for neuromuscular patients. We aim to establish a Neuromuscular Complex Care Day Unit for multidisciplinary management of neuromuscular patients from North East and Cumbria in England where Standards of Care appointments will be scheduled over a 1-2 day admission. We applied quality improvement methodology to demonstrate the necessity and impact of this service improvement proposal. Driver diagrams helped plan and structure the initiative, identifying change ideas that will be implemented using PDSA cycles. To measure the effects of this proposal we defined 1) Outcome measures: completion of care pathway and patient experience; 2) Process measures: identification of complex patients; 3) Balance measures: rate of fail to attend and unplanned admissions. A survey (PDSA cycle 1) circulated nationally to patients with neuromuscular diseases and their caregivers: 107 patients and care givers took part in the survey. Patients on average attend 4.7 specialist appointments a year. 19% of patients have had an unplanned hospital admission in the last 12 months. 45.8% of patients report that their physiotherapy needs are not met in the community. On average 37.4 % of patients travel 30-60 minutes to attend their clinic appointment. 69.8% of patients and 48.1 % of parent/care givers prefer to have their neuromuscular care appointments scheduled over one day. 80% of patients would be keen to attend such a unit, should this be available to them. Overall, the survey showed patients are supportive of such a model of care and allowed us to better shape this initiative to meet their needs. We are carrying out stakeholder engagement meetings (PDSA cycle 2) to gather feedback. We are also collecting data retrospectively on patients‘ attendance to appointments with other MDTs involved. Based on these results we will establish criteria for patients entering the pathway and refine the proposed model of care for the business case.
患有复杂神经肌肉疾病的患者需要多学科护理,这就需要多次预约医院门诊。缺乏协调可能会导致不必要的意外入院和延误及时的护理。多次医院预约增加了患者及其护理人员的护理负担,并可能影响患者的生活质量和参与日常活动的能力。一站式护理模式已在其他中心实施,并被证明是神经肌肉病患者的成功模式。我们的目标是建立一个神经肌肉综合护理日间病房,为来自英格兰东北部和坎布里亚的神经肌肉患者提供多学科管理,在这里,护理标准预约将被安排在 1-2 天的入院时间内进行。我们采用质量改进方法来证明这项服务改进建议的必要性和影响。驱动图帮助我们规划和组织这一举措,确定将通过 PDSA 循环来实施的变革理念。为了衡量该提案的效果,我们确定了 1) 结果衡量标准:完成护理路径和患者体验;2) 过程衡量标准:复杂患者的识别;3) 平衡衡量标准:未能就诊率和计划外入院率。在全国范围内向神经肌肉疾病患者及其护理人员发放调查问卷(PDSA 循环 1):107 名患者和护理人员参加了调查。患者平均每年接受 4.7 次专科预约。19% 的患者在过去 12 个月中曾意外入院。45.8%的患者表示社区无法满足他们的物理治疗需求。平均有 37.4% 的患者需要花费 30-60 分钟的时间前往诊所就诊。69.8%的患者和 48.1%的家长/护理人员希望将神经肌肉护理预约安排在一天之内。如果可以的话,80% 的患者愿意到这样的单位就诊。总体而言,调查显示患者支持这种护理模式,这使我们能够更好地制定这一举措,以满足他们的需求。我们正在举行利益相关者参与会议(PDSA 循环 2),以收集反馈意见。我们还在回顾性地收集患者与其他相关多学科专家小组预约就诊的数据。根据这些结果,我们将制定患者进入路径的标准,并完善商业案例中的拟议护理模式。
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引用次数: 0
121P Insulin resistance and liver fibrosis and -steatosis in adult patients with spinal muscular atrophy 121P 成年脊髓性肌萎缩症患者的胰岛素抵抗、肝纤维化和骨质疏松症
IF 2.7 4区 医学 Q2 CLINICAL NEUROLOGY Pub Date : 2024-10-01 DOI: 10.1016/j.nmd.2024.07.028
N. Receveur , S. Frølich , N. Scharff Poulsen , C. Ewertsen , A. Espe Hansen , J. Vissing
Spinal muscular atrophy (SMA) is an autosomal neuromuscular disorder affecting the motor neurons of the spinal cord. Many patients with SMA struggle with their low weight, leading to recommendations by clinicians to eat a high-fat diet. Further, patients are advised to avoid exercise to prevent muscle damage. These factors expose the patients to metabolic complications. In fact, prior studies have found higher rates of insulin resistance, dyslipidemia, and liver involvement in patients with SMA, which could be caused by inactivity, diet, and metabolic factors. Former studies on insulin resistance and dyslipidemia have focused on children and adolescents; therefore, the prevalence amongst adult patients is unknown. The few studies investigating the liver have examined children and mice, and none have used MR-elastography (MRE). This study is the first to investigate insulin resistance and liver fibrosis and -steatosis in adult patients with SMA, and to investigate their liver involvement using MRE. The study is a cross-sectional study. We hope to include 24 patients with SMA type II-III from different age groups and sex. First, the insulin resistance will be estimated with the Homeostatic Model Assessment of Insulin Resistance (HOMA-IR) using the glucose and insulin levels. Lipid levels will be measured. Secondly, a Dixon MRI of the liver, MRE, and a liver ultrasound will be performed to evaluate the liver size and degree of fibrosis and steatosis. The study is ongoing and expected to end in the Summer of 2024. Results will be presented at the conference.
脊髓性肌萎缩症(SMA)是一种影响脊髓运动神经元的常染色体神经肌肉疾病。许多 SMA 患者因体重过轻而挣扎,因此临床医生建议他们进食高脂肪饮食。此外,医生还建议患者避免运动,以防肌肉受损。这些因素使患者面临代谢并发症的风险。事实上,先前的研究发现,SMA 患者的胰岛素抵抗、血脂异常和肝脏受累的发生率较高,这可能是缺乏活动、饮食和代谢因素造成的。以往有关胰岛素抵抗和血脂异常的研究主要针对儿童和青少年,因此成年患者的患病率尚不清楚。少数调查肝脏的研究以儿童和小鼠为对象,且均未使用磁共振弹性成像技术(MRE)。本研究首次调查了 SMA 成年患者的胰岛素抵抗、肝纤维化和骨质疏松症,并使用 MRE 调查了他们的肝脏受累情况。该研究是一项横断面研究。我们希望纳入 24 名不同年龄组和性别的 II-III 型 SMA 患者。首先,将使用胰岛素抵抗的稳态模型评估法(HOMA-IR)估算血糖和胰岛素水平。还将测量血脂水平。其次,将进行肝脏 Dixon MRI、MRE 和肝脏超声波检查,以评估肝脏大小以及纤维化和脂肪变性的程度。这项研究正在进行中,预计将于 2024 年夏季结束。研究结果将在大会上公布。
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引用次数: 0
115P MRI of whole-body muscles and tongue of patients with Spinal Muscular Atrophy 脊髓性肌肉萎缩症患者全身肌肉和舌头的 115P MRI 图像
IF 2.7 4区 医学 Q2 CLINICAL NEUROLOGY Pub Date : 2024-10-01 DOI: 10.1016/j.nmd.2024.07.022
S. Froelich , N. Receveur , N. Scharff Poulsen , A. Espe Hansen , J. Vissing
Patients with spinal muscular atrophy (SMA) have an autosomal recessive motor neuron disorder that causes their muscles to degenerate. The muscle affection is visible on MRI as progressive muscle atrophy and increased intramuscular fat content. Multiple studies have shown increased intramuscular fat fraction in sections of the body. The bulbar function can also be affected but is not well documented with MRI or functional tests. This study is the first to describe the intramuscular fat fraction of the whole body from the tongue, axial muscles, and arm muscles to muscles of the thigh and calf and to correlate MRI findings of the tongue to bulbar function. The study is a cross-sectional study. We hope to include 24 patients with SMA type II-III and investigate them with MRI T1- and Dixon-imaging, motor function measure 32 (MFM32), lung function, the bulbar rating scale, a timed swallowing test, and questionnaires on swallowing and talking. We will make a heatmap of the involved muscles and correlate the findings to the type of SMA, number of survival motor neuron 2-copies, MFM32 score, and questionnaires. The study is ongoing and expected to end in the Summer of 2024. Results will be presented at the conference.
脊髓性肌萎缩症(SMA)患者患有常染色体隐性遗传的运动神经元疾病,会导致肌肉退化。肌肉退化在核磁共振成像上表现为进行性肌肉萎缩和肌肉内脂肪含量增加。多项研究显示,该病患者的部分肌肉脂肪含量增加。球部功能也会受到影响,但核磁共振成像或功能测试并没有很好的记录。本研究首次描述了从舌头、轴肌、手臂肌肉到大腿和小腿肌肉的全身肌肉内脂肪含量,并将舌头的核磁共振成像结果与球部功能相关联。该研究是一项横断面研究。我们希望纳入 24 名 SMA II-III 型患者,通过核磁共振 T1 和 Dixon- 成像、运动功能测量 32 (MFM32)、肺功能、球部评分量表、定时吞咽测试以及吞咽和说话问卷对他们进行调查。我们将绘制受累肌肉的热图,并将研究结果与 SMA 的类型、存活运动神经元 2 副本的数量、MFM32 评分和问卷调查相关联。这项研究正在进行中,预计将于 2024 年夏季结束。研究结果将在大会上公布。
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引用次数: 0
120P Diagnostic delay in Korean adults with spinal muscular atrophy 120P 韩国成人脊髓性肌肉萎缩症患者的诊断延迟
IF 2.7 4区 医学 Q2 CLINICAL NEUROLOGY Pub Date : 2024-10-01 DOI: 10.1016/j.nmd.2024.07.027
S. Kim , Y. Choi , J. Cho , Y. Choi , H. Park
Spinal muscular atrophy (SMA) is an autosomal recessive genetic disease characterized by the loss of motor neurons in the spinal cord and brainstem, leading to muscle atrophy and weakness. To understand the diagnostic process of Korean patients with SMA, we analyzed their clinical characteristics and challenges. We conducted a retrospective study of 38 patients with SMA (9 type II and 29 type III) between January 2000 and September 2023. Clinical, laboratory, and genetic data were reviewed. The median ages at symptom onset and diagnosis were 3.0 years [interquartile range: 1.0–7.3 years] and 25.0 years [interquartile ranges: 10.5–37.3 years], respectively. The median diagnostic delay was 19.6 years [interquartile range: 6.4–31.0]. A significantly longer delay was observed in SMA type III patients (median: 21.0 years, interquartile range: 11.0–31.0) compared to SMA type II patients (median: 3.0 years, interquartile range: 0.9–12.9 years) (p=0.006). No significant difference was observed in the number of clinic visits before diagnosis between patients with SMA type II (median: 2.0, interquartile range: 1.0–4.5) and type III (median: 2.0, interquartile range: 2.0–6.0, p=0.282). The number of clinic visits before diagnosis showed no significant association with the age at symptom onset and diagnosis (p=0.998 and 0.291, respectively). Our investigation is the first examination of the diagnostic journey of Korean patients with SMA. As treatments for SMA progress, the significance of an accurate diagnosis has increased, highlighting the importance of reviewing the diagnostic advancements made thus far.
脊髓性肌萎缩症(SMA)是一种常染色体隐性遗传病,其特征是脊髓和脑干运动神经元缺失,导致肌肉萎缩和无力。为了了解韩国 SMA 患者的诊断过程,我们分析了他们的临床特征和面临的挑战。我们对 2000 年 1 月至 2023 年 9 月期间的 38 例 SMA 患者(9 例 II 型,29 例 III 型)进行了回顾性研究。我们回顾了临床、实验室和遗传学数据。症状出现和确诊时的中位年龄分别为 3.0 岁 [四分位数间距:1.0-7.3 岁] 和 25.0 岁 [四分位数间距:10.5-37.3 岁]。中位诊断延迟时间为 19.6 年[四分位间范围:6.4-31.0]。与 SMA II 型患者(中位数:3.0 年,四分位间范围:0.9-12.9 年)相比,SMA III 型患者的延迟时间明显更长(中位数:21.0 年,四分位间范围:11.0-31.0 年)(P=0.006)。SMAⅡ型患者(中位数:2.0,四分位间距:1.0-4.5)与Ⅲ型患者(中位数:2.0,四分位间距:2.0-6.0,P=0.282)在确诊前的就诊次数上无明显差异。确诊前的就诊次数与发病年龄和确诊年龄无明显关联(P=0.998 和 0.291)。我们的调查是对韩国 SMA 患者诊断历程的首次研究。随着 SMA 治疗的进展,准确诊断的重要性也随之增加,这凸显了回顾迄今为止诊断进展的重要性。
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Neuromuscular Disorders
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