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Clinical and Therapeutic Implications of BCAAs Metabolism during Chronic Liver Disease in Humans: Crosstalk between Skeletal Muscle and Liver 人类慢性肝病期间 BCAAs 代谢的临床和治疗意义:骨骼肌与肝脏之间的相互影响
Pub Date : 2024-03-04 DOI: 10.3390/muscles3010008
M. C. Trillos-Almanza, Magnolia Martinez-Aguilar, J. C. Arroyave-Ospina, F. V. van Vilsteren, H. Blokzijl, Han Moshage
This comprehensive review focuses on the dynamics of branched-chain amino acids (BCAAs) metabolism and its clinical implications in chronic liver disease, with emphasis on the emerging concept of muscle–liver crosstalk. BCAAs, indispensable for protein synthesis and metabolic pathways, undergo unique tissue-specific processing in skeletal muscle and liver. The liver, responsible for amino acid metabolism, plays a distinctive role in sensing BCAAs catabolism, influencing glucose regulation and contributing to the systemic metabolism of BCAAs. Within the context of chronic liver disease, compromised liver metabolism becomes evident through amino acid abnormalities, particularly in the decrease of the Fischer ratio (BCAAs/aromatic amino acids concentrations in plasma). This reduction becomes important in assessing the severity of liver dysfunction due to its associations with adverse outcomes, including increased mortality and complications related to the liver disease. BCAAs supplementation, as explored in this review, emerges as a promising avenue, displaying positive effects on skeletal muscle mass, strength, and overall nutritional status in cirrhosis management. Understanding this interplay offers insights into therapeutic strategies for chronic liver diseases, exploring the way for precision interventions in clinical practice.
这篇综合性综述主要探讨支链氨基酸(BCAAs)代谢的动态及其对慢性肝病的临床影响,重点是肌肉-肝脏串联这一新兴概念。支链氨基酸是蛋白质合成和新陈代谢途径中不可或缺的物质,在骨骼肌和肝脏中经过独特的组织特异性加工。肝脏负责氨基酸代谢,在感知 BCAAs 分解、影响葡萄糖调节和促进 BCAAs 全身代谢方面发挥着独特的作用。在慢性肝病的背景下,肝脏代谢受损会通过氨基酸异常变得明显,尤其是费舍尔比值(血浆中 BCAAs/芳香族氨基酸浓度)的降低。这种降低对于评估肝功能异常的严重程度非常重要,因为它与不良后果有关,包括死亡率上升和与肝病有关的并发症。正如本综述所探讨的那样,补充 BCAAs 是一个很有前景的途径,它对肝硬化患者的骨骼肌质量、力量和整体营养状况都有积极影响。了解这种相互作用为慢性肝病的治疗策略提供了见解,为临床实践中的精准干预探索了道路。
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引用次数: 0
Sarcopenia and Pleural Mesothelioma: The Current Knowledge Sarcopenia 与胸膜间皮瘤:现有知识
Pub Date : 2024-02-08 DOI: 10.3390/muscles3010006
Nikolaos D. Karakousis, Konstantinos I. Gourgoulianis, N. Papanas, O. Kotsiou
Pleural mesothelioma (PM) is a tumor related to adverse prognosis. The PM WHO classification has mainly identified three major subtypes of PM which are epithelioid, biphasic, and sarcomatoid. Sarcopenia is a medical issue related to a reduction in muscle mass and strength. It represents a major health issue globally because it is related to adverse effects such as hospitalization, increased length of stay, disability, increased morbidity and mortality and augmented health care expenditures. In this literature review, we attempted to examine the upcoming association between sarcopenia and PM. As recorded by the current literature, muscle loss in PM subjects was related to poorer survival and lower levels of activity. Subjects with PM had increased rates of pre-sarcopenia and malnutrition, while pre-sarcopenia was related to worse activity levels, and malnutrition was related to worse quality of life (QoL). Both tumor volume and sarcopenia were related to long-term mortality in surgically treated PM subjects, while sarcopenia was present both pre-operatively and post-operatively in these subjects. In addition, post-operative sarcopenic subjects showed a decreased 3-year overall survival (OS) in comparison with those who did not have sarcopenia, while pre-operative sarcopenia was importantly related to an increased rate of post-operative adverse outcomes. More studies are needed to validate these claims.
胸膜间皮瘤(PM)是一种预后不良的肿瘤。世界卫生组织的胸膜间皮瘤分类主要确定了胸膜间皮瘤的三大亚型,即上皮样型、双相型和肉瘤样型。肌肉疏松症是一个与肌肉质量和力量减少有关的医学问题。它是一个全球性的重大健康问题,因为它与住院、住院时间延长、残疾、发病率和死亡率增加以及医疗保健支出增加等不利影响有关。在这篇文献综述中,我们试图研究肌肉疏松症与 PM 之间即将发生的关联。根据目前的文献记录,慢性阻塞性肺病患者的肌肉流失与存活率较低和活动量较少有关。患有渐冻人症的受试者中,肌肉疏松症前期和营养不良的比例较高,而肌肉疏松症前期与活动水平较差有关,营养不良则与生活质量(QoL)较差有关。肿瘤体积和肌肉疏松症与接受手术治疗的 PM 受试者的长期死亡率有关,而这些受试者在术前和术后都存在肌肉疏松症。此外,与无肌肉疏松症的受试者相比,术后肌肉疏松症受试者的三年总生存率(OS)有所下降,而术前肌肉疏松症与术后不良预后率增加有重要关系。还需要更多的研究来验证这些说法。
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引用次数: 0
Sarcopenia and Pleural Mesothelioma: The Current Knowledge Sarcopenia 与胸膜间皮瘤:现有知识
Pub Date : 2024-02-08 DOI: 10.3390/muscles3010006
Nikolaos D. Karakousis, Konstantinos I. Gourgoulianis, N. Papanas, O. Kotsiou
Pleural mesothelioma (PM) is a tumor related to adverse prognosis. The PM WHO classification has mainly identified three major subtypes of PM which are epithelioid, biphasic, and sarcomatoid. Sarcopenia is a medical issue related to a reduction in muscle mass and strength. It represents a major health issue globally because it is related to adverse effects such as hospitalization, increased length of stay, disability, increased morbidity and mortality and augmented health care expenditures. In this literature review, we attempted to examine the upcoming association between sarcopenia and PM. As recorded by the current literature, muscle loss in PM subjects was related to poorer survival and lower levels of activity. Subjects with PM had increased rates of pre-sarcopenia and malnutrition, while pre-sarcopenia was related to worse activity levels, and malnutrition was related to worse quality of life (QoL). Both tumor volume and sarcopenia were related to long-term mortality in surgically treated PM subjects, while sarcopenia was present both pre-operatively and post-operatively in these subjects. In addition, post-operative sarcopenic subjects showed a decreased 3-year overall survival (OS) in comparison with those who did not have sarcopenia, while pre-operative sarcopenia was importantly related to an increased rate of post-operative adverse outcomes. More studies are needed to validate these claims.
胸膜间皮瘤(PM)是一种预后不良的肿瘤。世界卫生组织的胸膜间皮瘤分类主要确定了胸膜间皮瘤的三大亚型,即上皮样型、双相型和肉瘤样型。肌肉疏松症是一个与肌肉质量和力量减少有关的医学问题。它是一个全球性的重大健康问题,因为它与住院、住院时间延长、残疾、发病率和死亡率增加以及医疗保健支出增加等不利影响有关。在这篇文献综述中,我们试图研究肌肉疏松症与 PM 之间即将发生的关联。根据目前的文献记录,慢性阻塞性肺病患者的肌肉流失与存活率较低和活动量较少有关。患有渐冻人症的受试者中,肌肉疏松症前期和营养不良的比例较高,而肌肉疏松症前期与活动水平较差有关,营养不良则与生活质量(QoL)较差有关。肿瘤体积和肌肉疏松症与接受手术治疗的 PM 受试者的长期死亡率有关,而这些受试者在术前和术后都存在肌肉疏松症。此外,与无肌肉疏松症的受试者相比,术后肌肉疏松症受试者的三年总生存率(OS)有所下降,而术前肌肉疏松症与术后不良预后率增加有重要关系。还需要更多的研究来验证这些说法。
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引用次数: 0
Eculizumab as Additional Rescue Therapy in Myasthenic Crisis 将依库珠单抗作为肌无力危象的额外救援疗法
Pub Date : 2024-02-07 DOI: 10.3390/muscles3010005
F. Crescenzo, Mattia Zanoni, Laura Ferigo, Francesca Rossi, Matteo Grecò, Angelica Lupato, Alessandra Danese, Domenico Ajena, Michelangelo Turazzini
Eculizumab is a monoclonal antibody blocking the terminal complement protein C5. As demonstrated in the phase III randomized, placebo-controlled, REGAIN clinical trial, eculizumab is efficacious in acetylcholine receptor antibody (AChR-Ab)-positive refractory generalized myasthenia gravis (gMG) (Myasthenia Gravis Foundation of America—MGFA class II–IV). It has not been studied in severe myasthenic exacerbation or myasthenic crisis (MGFA V). A 73-year-old man diagnosed with myasthenia gravis AChR-Ab positivity came to our observation for symptoms of bulbar and ocular weakness and unresponsiveness or intolerability to conventional immunosuppressive therapies (prednisone and azathioprine). Due to the recurrent clinical worsening with intubation over a short-term period, the patient was treated with eculizumab. After 15 days of eculizumab treatment, we observed a significant recovery of clinical condition. We discharged the patient to an outpatient regimen, where he is continuing with maintenance doses of eculizumab and slowly tapering steroid intake. The use of eculizumab in myasthenic crises is still anecdotal. Our case aims to provide eculizumab benefit for refractory severe gMG in a practical, real-world setting beyond the criteria of the REGAIN study. Further studies are needed to evaluate the efficacy and safety of eculizumab in myasthenic crises.
Eculizumab 是一种阻断末端补体蛋白 C5 的单克隆抗体。REGAIN III 期随机安慰剂对照临床试验表明,依库珠单抗对乙酰胆碱受体抗体(AChR-Ab)阳性的难治性全身性重症肌无力(gMG)(美国重症肌无力基金会-MGFA II-IV 级)有效。目前尚未对重症肌无力加重或肌无力危象(MGFA V 级)进行研究。一名被诊断为肌无力 AChR-Ab 阳性的 73 岁男子因出现球部和眼部无力症状,以及对常规免疫抑制疗法(强的松和硫唑嘌呤)无反应或无法耐受而前来就诊。由于患者的临床症状在短期内反复恶化,需要插管治疗,因此我们使用了依库珠单抗。在接受 15 天的依库珠单抗治疗后,我们观察到患者的临床状况明显好转。患者出院后,我们对其进行了门诊治疗,继续使用维持剂量的依库珠单抗,并缓慢减少类固醇的摄入量。在肌无力危象中使用依库珠单抗仍是传闻。我们的病例旨在超越 REGAIN 研究的标准,在实际的现实环境中为难治性重症肌无力患者提供依库珠单抗的益处。还需要进一步研究来评估依库珠单抗在肌无力危象中的疗效和安全性。
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引用次数: 0
Eculizumab as Additional Rescue Therapy in Myasthenic Crisis 将依库珠单抗作为肌无力危象的额外救援疗法
Pub Date : 2024-02-07 DOI: 10.3390/muscles3010005
F. Crescenzo, Mattia Zanoni, Laura Ferigo, Francesca Rossi, Matteo Grecò, Angelica Lupato, Alessandra Danese, Domenico Ajena, Michelangelo Turazzini
Eculizumab is a monoclonal antibody blocking the terminal complement protein C5. As demonstrated in the phase III randomized, placebo-controlled, REGAIN clinical trial, eculizumab is efficacious in acetylcholine receptor antibody (AChR-Ab)-positive refractory generalized myasthenia gravis (gMG) (Myasthenia Gravis Foundation of America—MGFA class II–IV). It has not been studied in severe myasthenic exacerbation or myasthenic crisis (MGFA V). A 73-year-old man diagnosed with myasthenia gravis AChR-Ab positivity came to our observation for symptoms of bulbar and ocular weakness and unresponsiveness or intolerability to conventional immunosuppressive therapies (prednisone and azathioprine). Due to the recurrent clinical worsening with intubation over a short-term period, the patient was treated with eculizumab. After 15 days of eculizumab treatment, we observed a significant recovery of clinical condition. We discharged the patient to an outpatient regimen, where he is continuing with maintenance doses of eculizumab and slowly tapering steroid intake. The use of eculizumab in myasthenic crises is still anecdotal. Our case aims to provide eculizumab benefit for refractory severe gMG in a practical, real-world setting beyond the criteria of the REGAIN study. Further studies are needed to evaluate the efficacy and safety of eculizumab in myasthenic crises.
Eculizumab 是一种阻断末端补体蛋白 C5 的单克隆抗体。REGAIN III 期随机安慰剂对照临床试验表明,依库珠单抗对乙酰胆碱受体抗体(AChR-Ab)阳性的难治性全身性重症肌无力(gMG)(美国重症肌无力基金会-MGFA II-IV 级)有效。目前尚未对重症肌无力加重或肌无力危象(MGFA V 级)进行研究。一名被诊断为肌无力 AChR-Ab 阳性的 73 岁男子因出现球部和眼部无力症状,以及对常规免疫抑制疗法(强的松和硫唑嘌呤)无反应或无法耐受而前来就诊。由于患者的临床症状在短期内反复恶化,需要插管治疗,因此我们使用了依库珠单抗。在接受 15 天的依库珠单抗治疗后,我们观察到患者的临床状况明显好转。患者出院后,我们对其进行了门诊治疗,继续使用维持剂量的依库珠单抗,并缓慢减少类固醇的摄入量。在肌无力危象中使用依库珠单抗仍是传闻。我们的病例旨在超越 REGAIN 研究的标准,在实际的现实环境中为难治性重症肌无力患者提供依库珠单抗的益处。还需要进一步研究来评估依库珠单抗在肌无力危象中的疗效和安全性。
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引用次数: 0
Incobotulinumtoxin A and Yoga-like Isometric Exercise in Adolescent Idiopathic Lumbar Scoliosis—A Randomized Pilot Study 针对青少年特发性腰椎脊柱侧弯症的A型注射肉毒杆菌素和瑜伽样等长运动--随机试点研究
Pub Date : 2024-02-01 DOI: 10.3390/muscles3010004
Loren Fishman
Background: Approximately 90% of scoliosis cases are adolescent-idiopathic (AIS). From the first appearance of scoliosis at 10–14 years of age until the age of 18, the spine is most vulnerable to deterioration; young, growing people are most susceptible to the worsening of one or more scoliotic curves. An effective non-surgical means of remediation would be welcome. Design: This was a randomized, controlled, two-arm study assessing the safety and efficacy of combining incobotulinum injections with yoga to reverse lumbar and thoracolumbar AIS. Methods: In a private clinic setting, non-pregnant, healthy 12–18 year-olds were either taught a symmetrical “placebo” yoga pose (control sub-group 1), performed the side plank (Vasisthasana) three times daily with a placebo injection (control sub-group 2) or performed the three-times-daily side plank with a botulinum injection (intervention group 3). Injection: For the injection, 33 IU of incobotulinumtoxin type A (Xeomin) was injected into the concave-side lumbar paraspinals and quadratus lumborum at L2–3 and the psoas muscle at L3–4, or participants were injected similarly with a placebo. Randomization was achieved using random.org. Objective: The objective was to determine whether the treatment of muscular asymmetry with botulinum toxin injections and side planks is safe and effective in AIS. Results/Outcome: Eleven intervention and thirteen placebo patients (Groups 1 + 2), who were 12–18 years old, completed the three-month study. Mean daily side plank time = 165 s. The mean initial lumbar curvature was 36.9 degrees (SD 14.36), (p < 0.0001); the mean Group 3 curvature at 3 weeks was 29.5 degrees (SD 14.23) (p < 0.0001); and the mean Group 3 curvature at 3 months was 26.0 degrees (SD 12.81). Onset vs. 3-month value: p < 0.0001. Harms were limited to one patient in Group 2 and one in Group 3, who complained of transient shoulder pain and supported themselves temporarily on their forearm instead of the palm of the extended hand. Conclusion: Muscle strength asymmetry appears to be relevant to AIS treatment. Incobotulinum injections combined with side planks performed with the convex side downward may be more effective in reversing lumbar AIS than placebo exercises or side planks and placebo injections.
背景:大约90%的脊柱侧弯病例都是青少年病态脊柱侧弯(AIS)。从 10-14 岁首次出现脊柱侧弯到 18 岁,脊柱是最容易退化的时期;正在成长的年轻人最容易出现一个或多个脊柱侧弯的恶化。一种有效的非手术补救方法将受到欢迎。设计:这是一项随机、对照、双臂研究,评估将伊可勃林注射液与瑜伽相结合以逆转腰椎和胸腰椎AIS的安全性和有效性。研究方法在私人诊所环境中,对未怀孕、健康的 12-18 岁青少年教授对称的 "安慰剂 "瑜伽姿势(对照组 1)、每天三次侧平举(Vasisthasana)并注射安慰剂(对照组 2)或每天三次侧平举并注射肉毒杆菌(干预组 3)。注射:注射时,将 33 IU 的 A 型肉毒毒素(Xeomin)注射到凹侧腰椎旁、L2-3 处的腰四头肌和 L3-4 处的腰大肌,或同样注射安慰剂。随机化是通过 random.org 实现的。目标:目的是确定通过注射肉毒杆菌毒素和侧平举治疗肌肉不对称在 AIS 中是否安全有效。结果/成果:11 名干预患者和 13 名安慰剂患者(第 1 组 + 第 2 组)完成了为期三个月的研究,他们的年龄在 12-18 岁之间。最初的腰椎弯曲度平均为 36.9 度(标准差 14.36),(P < 0.0001);3 周时第 3 组的腰椎弯曲度平均为 29.5 度(标准差 14.23)(P < 0.0001);3 个月时第 3 组的腰椎弯曲度平均为 26.0 度(标准差 12.81)。起始值与 3 个月值对比:P < 0.0001。危害仅限于第 2 组的一名患者和第 3 组的一名患者,他们抱怨肩部短暂疼痛,并暂时用前臂而不是伸手的手掌支撑自己。结论肌肉力量不对称似乎与 AIS 治疗有关。在逆转腰部 AIS 方面,Incobotulinum 注射与凸面向下的侧平举相结合可能比安慰剂运动或侧平举和安慰剂注射更有效。
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引用次数: 0
Incobotulinumtoxin A and Yoga-like Isometric Exercise in Adolescent Idiopathic Lumbar Scoliosis—A Randomized Pilot Study 针对青少年特发性腰椎脊柱侧弯症的A型注射肉毒杆菌素和瑜伽样等长运动--随机试点研究
Pub Date : 2024-02-01 DOI: 10.3390/muscles3010004
Loren Fishman
Background: Approximately 90% of scoliosis cases are adolescent-idiopathic (AIS). From the first appearance of scoliosis at 10–14 years of age until the age of 18, the spine is most vulnerable to deterioration; young, growing people are most susceptible to the worsening of one or more scoliotic curves. An effective non-surgical means of remediation would be welcome. Design: This was a randomized, controlled, two-arm study assessing the safety and efficacy of combining incobotulinum injections with yoga to reverse lumbar and thoracolumbar AIS. Methods: In a private clinic setting, non-pregnant, healthy 12–18 year-olds were either taught a symmetrical “placebo” yoga pose (control sub-group 1), performed the side plank (Vasisthasana) three times daily with a placebo injection (control sub-group 2) or performed the three-times-daily side plank with a botulinum injection (intervention group 3). Injection: For the injection, 33 IU of incobotulinumtoxin type A (Xeomin) was injected into the concave-side lumbar paraspinals and quadratus lumborum at L2–3 and the psoas muscle at L3–4, or participants were injected similarly with a placebo. Randomization was achieved using random.org. Objective: The objective was to determine whether the treatment of muscular asymmetry with botulinum toxin injections and side planks is safe and effective in AIS. Results/Outcome: Eleven intervention and thirteen placebo patients (Groups 1 + 2), who were 12–18 years old, completed the three-month study. Mean daily side plank time = 165 s. The mean initial lumbar curvature was 36.9 degrees (SD 14.36), (p < 0.0001); the mean Group 3 curvature at 3 weeks was 29.5 degrees (SD 14.23) (p < 0.0001); and the mean Group 3 curvature at 3 months was 26.0 degrees (SD 12.81). Onset vs. 3-month value: p < 0.0001. Harms were limited to one patient in Group 2 and one in Group 3, who complained of transient shoulder pain and supported themselves temporarily on their forearm instead of the palm of the extended hand. Conclusion: Muscle strength asymmetry appears to be relevant to AIS treatment. Incobotulinum injections combined with side planks performed with the convex side downward may be more effective in reversing lumbar AIS than placebo exercises or side planks and placebo injections.
背景:大约90%的脊柱侧弯病例都是青少年病态脊柱侧弯(AIS)。从 10-14 岁首次出现脊柱侧弯到 18 岁,脊柱是最容易退化的时期;正在成长的年轻人最容易出现一个或多个脊柱侧弯的恶化。一种有效的非手术补救方法将受到欢迎。设计:这是一项随机、对照、双臂研究,评估将伊可勃林注射液与瑜伽相结合以逆转腰椎和胸腰椎AIS的安全性和有效性。研究方法在私人诊所环境中,对未怀孕、健康的 12-18 岁青少年教授对称的 "安慰剂 "瑜伽姿势(对照组 1)、每天三次侧平举(Vasisthasana)并注射安慰剂(对照组 2)或每天三次侧平举并注射肉毒杆菌(干预组 3)。注射:注射时,将 33 IU 的 A 型肉毒毒素(Xeomin)注射到凹侧腰椎旁、L2-3 处的腰四头肌和 L3-4 处的腰大肌,或同样注射安慰剂。随机化是通过 random.org 实现的。目标:目的是确定通过注射肉毒杆菌毒素和侧平举治疗肌肉不对称在 AIS 中是否安全有效。结果/成果:11 名干预患者和 13 名安慰剂患者(第 1 组 + 第 2 组)完成了为期三个月的研究,他们的年龄在 12-18 岁之间。最初的腰椎弯曲度平均为 36.9 度(标准差 14.36),(P < 0.0001);3 周时第 3 组的腰椎弯曲度平均为 29.5 度(标准差 14.23)(P < 0.0001);3 个月时第 3 组的腰椎弯曲度平均为 26.0 度(标准差 12.81)。起始值与 3 个月值对比:P < 0.0001。危害仅限于第 2 组的一名患者和第 3 组的一名患者,他们抱怨肩部短暂疼痛,并暂时用前臂而不是伸手的手掌支撑自己。结论肌肉力量不对称似乎与 AIS 治疗有关。在逆转腰部 AIS 方面,Incobotulinum 注射与凸面向下的侧平举相结合可能比安慰剂运动或侧平举和安慰剂注射更有效。
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引用次数: 0
Neuromuscular Rehabilitation of the Brachioradialis Muscle after Distal Radius Fracture in Two Professional Soccer Players Using Electromyographic Biofeedback 利用肌电图生物反馈对两名职业足球运动员桡骨远端骨折后的肱肌进行神经肌肉康复训练
Pub Date : 2024-01-23 DOI: 10.3390/muscles3010003
Verónica Morales-Sánchez, R. Reigal, Verónica García-Morales, Antonio Hernández-Mendo, Coral Falcó
The use of electromyographic biofeedback (EMG-BF) in the rehabilitation of injuries has been widely referenced in the psychological literature. However, despite some pioneering work in the field of sports, its use in the rehabilitation of sports injuries has hardly been explored. A case of two professional soccer players who each suffered a distal radius fracture is presented here. Parallel to the rehabilitation plan established by medical services, an intervention strategy using EMG-BF was established. An EMG-BF intervention was performed on the brachioradialis muscle with the aim of improving the voluntary control of its electromyographic activity. The study protocol was registered with the identifier NCT05376072. An ABA design was used. In each session, a pre- and postline was recorded to determine the EMG gain acquired at each point of the session. After six sessions, the intervention was terminated. One more follow-up session was performed. The results obtained indicated the efficacy of the intervention; a statistically significant increase in muscle activity in the brachioradialis muscle was observed.
在心理学文献中,肌电生物反馈(EMG-BF)在损伤康复中的应用已被广泛引用。然而,尽管在体育领域有一些开创性的工作,但在运动损伤的康复中使用这一方法的研究还很少。这里介绍的是两个职业足球运动员的病例,他们都遭受了桡骨远端骨折。在医疗服务部门制定康复计划的同时,还制定了使用 EMG-BF 的干预策略。对肱二头肌进行了 EMG-BF 干预,目的是改善其肌电活动的自主控制。该研究方案的注册标识符为 NCT05376072。采用的是 ABA 设计。在每个疗程中,记录前线和后线,以确定疗程各点获得的肌电图增益。六个疗程后,干预结束。之后又进行了一次随访。结果表明,干预效果显著;从统计学角度看,肱二头肌的肌肉活动明显增加。
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引用次数: 0
PNPT1 Spectrum Disorders: An Underrecognized and Complex Group of Neurometabolic Disorders PNPT1 谱系障碍:一类未被充分认识的复杂神经代谢疾病
Pub Date : 2024-01-19 DOI: 10.3390/muscles3010002
Paulo Sgobbi, I. B. Farias, P. Serrano, Bruno Mattos Lombardi Badia, Hélvia Bertoldo de Oliveira, A. S. Barbosa, C. A. Pereira, Vanessa de Freitas Moreira, M. Chieia, A. Barbosa, P. Fraiman, Vinícius Lopes Braga, R. I. L. Machado, Sophia Luiz Calegaretti, Isabela Danziato Fernandes, Roberta Correa Ribeiro, Marco Antonio Orsini Neves, W. Pinto, A. Oliveira
An 18-year-old man presented with slowly progressive infancy-onset spasticity of the lower limbs and cerebellar ataxia, associated with painless strabismus, intellectual disability, urinary incontinence, bilateral progressive visual loss, and cognitive decline since early adolescence. A neurological examination disclosed spastic dysarthria, left eye divergent strabismus, bilateral ophthalmoparesis, impaired smooth pursuit, severe spastic paraparesis of the lower limbs with global brisk tendon reflexes, bilateral extensor plantar responses, and bilateral ankle clonus reflex. Bilateral dysdiadochokinesia of the upper limbs, Stewart-Holmes rebound phenomenon, bilateral dysmetria, and a bilateral abnormal finger-to-nose test were observed. Markedly reduced bilateral visual acuity (right side 20/150, left side 20/400) and moderate to severe optic atrophy were detected. Neuroimaging studies showed cerebellar atrophy and bilateral optic nerves and optic tract atrophy as the main findings. As a complicated Hereditary Spastic Paraplegia, autosomal dominant Spinocerebellar Ataxia, or inherited neurometabolic disorders were suspected, a large next-generation sequencing-based gene panel testing disclosed the heterozygous pathogenic variant c.162-1G>A in intron 1 of the PNPT1 gene. A diagnosis of PNPT1-related spastic ataxia was established. Clinicians must be aware of the possibility of PNPT1 pathogenic variants in cases of spastic ataxia and spastic paraplegias that are associated with optic atrophy and marked cognitive decline, regardless of the established family history of neurological compromise.
一名 18 岁的男性患者在婴儿期发病,下肢痉挛和小脑共济失调呈缓慢进行性发展,伴有无痛性斜视、智力障碍、尿失禁、双侧进行性视力丧失,并自青春期早期开始出现认知功能下降。神经系统检查显示,患者存在痉挛性构音障碍、左眼发散性斜视、双侧眼球瘫痪、平滑追视受损、下肢严重痉挛性瘫痪,并伴有全局性快肌腱反射、双侧足底伸肌反应和双侧踝关节阵挛反射。双侧上肢运动障碍、斯图尔特-霍姆斯回弹现象、双侧肢体运动障碍和双侧指鼻试验异常。双侧视力明显下降(右侧 20/150,左侧 20/400),视神经中度至重度萎缩。神经影像学检查显示,小脑萎缩、双侧视神经和视束萎缩是主要发现。由于怀疑是复杂的遗传性痉挛性截瘫、常染色体显性脊髓小脑共济失调或遗传性神经代谢疾病,基于新一代测序的大型基因面板检测发现了 PNPT1 基因内含子 1 中的杂合致病变体 c.162-1G>A。PNPT1 相关痉挛性共济失调的诊断成立。临床医生必须意识到,在伴有视神经萎缩和认知能力明显下降的痉挛性共济失调和痉挛性截瘫病例中,无论是否有神经系统受损的家族史,都有可能存在 PNPT1 致病变体。
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引用次数: 0
Muscles: An Overview of 2023 and Future Perspective 肌肉:2023 年概述及未来展望
Pub Date : 2024-01-02 DOI: 10.3390/muscles3010001
Corrado Angelini
Ending the year is an opportunity to reflect on the past twelve months [...]
年终是反思过去 12 个月的机会 [...]
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Muscles
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