Muscle & Nerve最新文献

筛选
英文 中文
Muscle Contractility in Hypokalemic Periodic Paralysis. 低钾性周期性麻痹的肌肉收缩性。
IF 2.8 3区 医学
Muscle & Nerve Pub Date : 2025-03-01 Epub Date: 2024-12-24 DOI: 10.1002/mus.28330
Sonja Holm-Yildiz, Thomas Krag, Tina Dysgaard, Britt Stævnsbo Pedersen, Nanna Witting, Louise Sloth Kodal, Linda Kannuberg, Jonas Jalili Pedersen, Rebecca Kjær Andersen, Zhe Lyu, Morten Müller Aagaard, Christoffer Rasmus Vissing, Julia Dahlqvist, Nicoline Løkken, Nanna Scharff Poulsen, John Vissing
{"title":"Muscle Contractility in Hypokalemic Periodic Paralysis.","authors":"Sonja Holm-Yildiz, Thomas Krag, Tina Dysgaard, Britt Stævnsbo Pedersen, Nanna Witting, Louise Sloth Kodal, Linda Kannuberg, Jonas Jalili Pedersen, Rebecca Kjær Andersen, Zhe Lyu, Morten Müller Aagaard, Christoffer Rasmus Vissing, Julia Dahlqvist, Nicoline Løkken, Nanna Scharff Poulsen, John Vissing","doi":"10.1002/mus.28330","DOIUrl":"10.1002/mus.28330","url":null,"abstract":"<p><strong>Introduction/aims: </strong>Primary hypokalemic periodic paralysis (HypoPP) can present with periodic paralysis and/or permanent muscle weakness. Permanent weakness is accompanied by fat replacement of the muscle. It is unknown whether the permanent muscle weakness is solely due to fat replacement or if other factors affect the ability of the remaining muscle fibers to contract. We aimed to investigate muscle fat replacement and contractility in persons with HypoPP-causing variants in CACNA1S and to compare the results to healthy controls.</p><p><strong>Methods: </strong>In this cross-sectional study, we used T1-weighted and 2-point Dixon magnetic resonance imaging (MRI) to assess fat replacement of the muscle and stationary dynamometry to assess muscle strength. Contractility was determined by maximal muscle contraction divided by the contractile cross-sectional muscle area.</p><p><strong>Results: </strong>We included 45 persons with HypoPP-causing variants in CACNA1S and data from 37 healthy controls. We found that fat fraction was increased in ankle dorsiflexors and knee extensors and flexors, and further found that muscle strength was decreased in knee extensors and flexors in persons with HypoPP-causing variants in CACNA1S compared to healthy controls. Additionally, we found decreased contractility of thigh muscles in persons with HypoPP-causing variants in CACNA1S compared to healthy controls.</p><p><strong>Discussion: </strong>The decreased contractility could relate to skeletal muscle voltage-gated calcium channel dysfunction, subclinical attacks of paralysis, and/or changed muscle architecture, but this needs further investigation.</p>","PeriodicalId":18968,"journal":{"name":"Muscle & Nerve","volume":" ","pages":"360-367"},"PeriodicalIF":2.8,"publicationDate":"2025-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142885928","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Diaphragm Ultrasonography in Patients Without Symptoms or Signs of Respiratory Impairment. 无呼吸障碍症状或体征患者的膈超声检查。
IF 2.8 3区 医学
Muscle & Nerve Pub Date : 2025-03-01 Epub Date: 2024-12-31 DOI: 10.1002/mus.28331
Martina Gorenc, Rok Blagus, Friderika Kresal, Gregor Omejec
{"title":"Diaphragm Ultrasonography in Patients Without Symptoms or Signs of Respiratory Impairment.","authors":"Martina Gorenc, Rok Blagus, Friderika Kresal, Gregor Omejec","doi":"10.1002/mus.28331","DOIUrl":"10.1002/mus.28331","url":null,"abstract":"<p><strong>Introduction/aims: </strong>We aimed to determine differences in diaphragm thickness by including/excluding pleural and peritoneal membranes, the variability in diaphragm thickness over the apposition zone, and the predictors of diaphragm thickness and excursion measurements.</p><p><strong>Methods: </strong>At least 10 male and female subjects were recruited for each decade of life. Spirometry, respiratory muscle strength, and the diaphragm ultrasound (US) measurements were performed. Multivariate linear regression was applied to determine associations between diaphragm US parameters, subject characteristics, spirometry, and respiratory muscle strength.</p><p><strong>Results: </strong>In 156 subjects (mean 47.8 ± 17.7; 20-80 years of age), a significant difference in diaphragm thickness was found when comparing measurements that included and excluded the pleural and peritoneal membranes (mean 2.3 vs. 1.7 mm; average difference of 35% (95% CI [15.3-60]); p < 0.001), as well as the minimum and maximum diaphragm thicknesses at different locations over the apposition zone (mean 1.4 vs. 2.1 mm; p < 0.001). Adjusting for sex, age, height, sniff nasal inspiratory pressure, and forced vital capacity, a positive association was found between body mass index (BMI) and diaphragm thickness (β =0.024, p < 0.001, partial R <sup>2</sup> = 0.31, 95% CI [0.018, 0.030]); a negative association was found with the thickening ratio (β = -0.013, p = 0.050, partial R <sup>2</sup> = 0.04, 95% CI [-0.024, -0.002]).</p><p><strong>Discussion: </strong>Caliper placement and the location of measurement over the apposition zone greatly affect diaphragm thickness, which is also associated with BMI. Therefore, a standardized protocol for measuring diaphragmatic thickness and excursion is desirable, and BMI should be considered when interpreting the results.</p>","PeriodicalId":18968,"journal":{"name":"Muscle & Nerve","volume":" ","pages":"406-413"},"PeriodicalIF":2.8,"publicationDate":"2025-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142907283","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Immune Checkpoint Inhibitor-Induced Myositis, Myocarditis, Myasthenia Gravis, and Autonomic Neuropathy Successfully Treated With Rituximab. 利妥昔单抗成功治疗免疫检查点抑制剂诱导的肌炎、心肌炎、重症肌无力和自主神经病变。
IF 2.8 3区 医学
Muscle & Nerve Pub Date : 2025-03-01 Epub Date: 2025-01-10 DOI: 10.1002/mus.28339
Daisuke Kawata, Hisanori Hasegawa, Naoki Kimura, Yasuhiro Tagawa, Hirokazu Sasaki, Shinsuke Yasuda
{"title":"Immune Checkpoint Inhibitor-Induced Myositis, Myocarditis, Myasthenia Gravis, and Autonomic Neuropathy Successfully Treated With Rituximab.","authors":"Daisuke Kawata, Hisanori Hasegawa, Naoki Kimura, Yasuhiro Tagawa, Hirokazu Sasaki, Shinsuke Yasuda","doi":"10.1002/mus.28339","DOIUrl":"10.1002/mus.28339","url":null,"abstract":"","PeriodicalId":18968,"journal":{"name":"Muscle & Nerve","volume":" ","pages":"489-491"},"PeriodicalIF":2.8,"publicationDate":"2025-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142952032","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
The Critical Importance of Early and Combination Treatment for Spinal Muscular Atrophy Type. 脊髓性肌萎缩型早期联合治疗的重要性。
IF 2.8 3区 医学
Muscle & Nerve Pub Date : 2025-03-01 Epub Date: 2025-01-16 DOI: 10.1002/mus.28345
Marie Sweat, Andrew Skalsky
{"title":"The Critical Importance of Early and Combination Treatment for Spinal Muscular Atrophy Type.","authors":"Marie Sweat, Andrew Skalsky","doi":"10.1002/mus.28345","DOIUrl":"10.1002/mus.28345","url":null,"abstract":"","PeriodicalId":18968,"journal":{"name":"Muscle & Nerve","volume":" ","pages":"290-292"},"PeriodicalIF":2.8,"publicationDate":"2025-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143008680","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
MScanFit and StairFit Motor Unit Number Estimation of the Extensor Digitorum Brevis and Abductor Digiti Minimi Muscles. 指短伸肌和指小外展肌的MScanFit和StairFit运动单元数估计。
IF 2.8 3区 医学
Muscle & Nerve Pub Date : 2025-03-01 Epub Date: 2025-01-10 DOI: 10.1002/mus.28341
Yanhui Zhang, Maoqi Chen, Peipei Xu, Qing Xie, Ya Zong, Ping Zhou
{"title":"MScanFit and StairFit Motor Unit Number Estimation of the Extensor Digitorum Brevis and Abductor Digiti Minimi Muscles.","authors":"Yanhui Zhang, Maoqi Chen, Peipei Xu, Qing Xie, Ya Zong, Ping Zhou","doi":"10.1002/mus.28341","DOIUrl":"10.1002/mus.28341","url":null,"abstract":"<p><strong>Introduction/aims: </strong>MScanFit and StairFit are two motor unit number estimation (MUNE) methods derived from a compound muscle action potential (CMAP) scan. This study aims to compare MScanFit and StairFit MUNE values by applying both methods to the same muscles.</p><p><strong>Methods: </strong>CMAP scans were recorded from the extensor digitorum brevis (EDB) and abductor digiti minimi (ADM) muscles. MUNE was performed using the MScanFit and the StairFit programs.</p><p><strong>Results: </strong>Twenty healthy subjects (30.1 ± 6.6 years; 11 males, 9 females) participated in the study. The MScanFit and StairFit MUNE values were 79 ± 35 and 63 ± 20 for the EDB muscle, and 124 ± 33 and 80 ± 20 for the ADM muscle, respectively. The StairFit MUNE was significantly lower than the MScanFit MUNE (p < 0.05 for EDB, p < 0.01 for ADM).</p><p><strong>Discussion: </strong>The different results for MScanFit and StairFit MUNE are likely due to the different strategies used by the two methods. Serial studies are needed to further compare their performances in tracking motor unit number and size changes.</p>","PeriodicalId":18968,"journal":{"name":"Muscle & Nerve","volume":" ","pages":"446-449"},"PeriodicalIF":2.8,"publicationDate":"2025-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142952033","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Relationship Between Quantitative Magnetic Resonance Imaging Measures and Functional Changes in Patients With Duchenne Muscular Dystrophy. 杜氏肌营养不良患者定量磁共振成像指标与功能改变的关系。
IF 2.8 3区 医学
Muscle & Nerve Pub Date : 2025-03-01 Epub Date: 2024-12-23 DOI: 10.1002/mus.28321
Sarah P Sherlock, Allison McCrady, Jeffrey Palmer, Haleh Aghamolaey, André Ahlgren, Per Widholm, Olof Dahlqvist Leinhard, Markus Karlsson
{"title":"Relationship Between Quantitative Magnetic Resonance Imaging Measures and Functional Changes in Patients With Duchenne Muscular Dystrophy.","authors":"Sarah P Sherlock, Allison McCrady, Jeffrey Palmer, Haleh Aghamolaey, André Ahlgren, Per Widholm, Olof Dahlqvist Leinhard, Markus Karlsson","doi":"10.1002/mus.28321","DOIUrl":"10.1002/mus.28321","url":null,"abstract":"<p><strong>Introduction/aims: </strong>Improved methodologies to monitor the progression of Duchenne muscular dystrophy (DMD) are needed, especially in the context of clinical trials. We report changes in muscle magnetic resonance imaging (MRI) parameters in participants with DMD, including changes in lean muscle volume (LMV), muscle fat fraction (MFF), and muscle fat infiltration (MFI) and their relationship to changes in functional parameters.</p><p><strong>Methods: </strong>MRI data were obtained as part of a clinical study (NCT02310763) of domagrozumab, an antibody-targeting myostatin that negatively regulates skeletal muscle mass. This post hoc analysis evaluated participants with Dixon MRI data and corresponding functional data at baseline and weeks 49 and 97. Images were analyzed to evaluate changes in adductors, hamstrings, and quadriceps.</p><p><strong>Results: </strong>There was a positive correlation between increases in LMV and function. LMV changes in adductors (R = 0.51) and quadriceps (R = 0.54) showed a stronger correlation with function than LMV changes in hamstrings (R = 0.30). There was a negative correlation between MFF and MFI, respectively, and function in adductors (R = -0.57, R = -0.42), quadriceps (R = -0.59, R = -0.50), and hamstrings (R = -0.53, R = -048). Participants with preserved North Star Ambulatory Assessment scores had high total LMV (LMV<sub>tot</sub>) and low total MFI (MFI<sub>tot</sub>). Low ratios of LMV<sub>tot</sub> to MFI<sub>tot</sub>, or participants with small LMV<sub>tot</sub> and high MFI<sub>tot</sub>, appeared to have a rapid decline in function and loss of ambulation.</p><p><strong>Discussion: </strong>These findings support the use of MRI biomarkers as potential surrogate endpoints in clinical trials of patients with DMD.</p><p><strong>Trial registration: </strong>ClinicalTrials.gov identifiers: NCT02310763.</p>","PeriodicalId":18968,"journal":{"name":"Muscle & Nerve","volume":" ","pages":"343-352"},"PeriodicalIF":2.8,"publicationDate":"2025-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11799397/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142876896","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Individualized Dosing of Efgartigimod in Patients With Generalized Myasthenia Gravis: Clinical Experience at a Single Center. 依夫加替莫德个体化给药治疗广泛性重症肌无力:单中心临床经验
IF 2.8 3区 医学
Muscle & Nerve Pub Date : 2025-03-01 Epub Date: 2025-01-02 DOI: 10.1002/mus.28334
Nicholas J Silvestri
{"title":"Individualized Dosing of Efgartigimod in Patients With Generalized Myasthenia Gravis: Clinical Experience at a Single Center.","authors":"Nicholas J Silvestri","doi":"10.1002/mus.28334","DOIUrl":"10.1002/mus.28334","url":null,"abstract":"<p><strong>Introduction/aims: </strong>Neonatal Fc receptor (FcRn) inhibitors represent a promising treatment option for patients with generalized myasthenia gravis (gMG); however, data on clinical use are limited. The aim of this report is to describe one center's approach to efgartigimod dosing in patients with gMG.</p><p><strong>Methods: </strong>Medical records of patients with acetylcholine receptor antibody-positive (AChR-Ab+) gMG whose symptoms were not adequately controlled by oral medications and/or intravenous immunoglobulin who received efgartigimod between January 2022 and January 2024 were retrospectively evaluated. The first three efgartigimod cycles (10 mg/kg IV) were initiated at fixed intervals (4 once-weekly infusions, with 4 weeks between cycles). After the third cycle, initiation of subsequent treatment cycles and time between cycles were determined individually by clinical evaluation. Effectiveness was measured by the Myasthenia Gravis Activities of Daily Living (MG-ADL) scale. Adverse events and changes to concomitant therapies were monitored.</p><p><strong>Results: </strong>Nineteen patients were included and received a mean of 4.4 efgartigimod cycles, including two patients who discontinued after two cycles. All patients exhibited a clinically meaningful improvement in MG-ADL total score from baseline to the end of the last cycle, with a mean improvement of 5.8 points. Seven (37%) patients achieved minimal symptom expression (MSE, MG-ADL 0-1). From baseline to the end of the last cycle, daily prednisone dose was decreased or it was discontinued, while two patients initiated prednisone. Efgartigimod was generally well tolerated.</p><p><strong>Discussion: </strong>This approach to efgartigimod dosing resulted in substantial MG-ADL score improvement in these patients with AChR-Ab+ gMG as well as reduced daily dose and/or discontinuation of concomitant corticosteroids.</p>","PeriodicalId":18968,"journal":{"name":"Muscle & Nerve","volume":" ","pages":"422-428"},"PeriodicalIF":2.8,"publicationDate":"2025-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11799394/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142915295","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Electrical Interference in Clinical Practice: A Conceptual and Practical Approach. 临床实践中的电干扰:概念和实践方法。
IF 2.8 3区 医学
Muscle & Nerve Pub Date : 2025-03-01 Epub Date: 2024-12-12 DOI: 10.1002/mus.28304
Daniel Dumitru, Paul E Barkhaus, Sanjeev D Nandedkar
{"title":"Electrical Interference in Clinical Practice: A Conceptual and Practical Approach.","authors":"Daniel Dumitru, Paul E Barkhaus, Sanjeev D Nandedkar","doi":"10.1002/mus.28304","DOIUrl":"10.1002/mus.28304","url":null,"abstract":"<p><p>Electrical Interference (EI: radiated electromagnetic and/or power line interference) is a common problem in clinical neurophysiology with many causes and thus various conceivable solutions. Although newer digitized electrodiagnostic (EDX) systems have markedly reduced EI issues, it remains a possible impediment in achieving high quality studies. So that the electrodiagnostic medicine consultant (EMC) can problem solve EI, this monograph details the fundamental functional concepts and terminology of electronic amplification and recording electrodes from a practical perspective. This information is then utilized in a proposed standard operating protocol (SOP) to help the EMC address a wide variety of EI sources. Three major EI sources are considered: the EDX system/operator error, the environment, and the patient. The first is a thorough assessment of the recording electrodes from the perspective of clean electrodes, security of attachment, appropriate gel application, proper lead connections to both the patient and instrument, and similarity of electrode composition. Second is how adverse environmental conditions are mitigated through isolating the EDX instrument from nearby large generator sources, unplugging unnecessary equipment, keeping the amplifier close to the patient along with short and braided electrode leads, and utilize filtering (both 60 Hz and total bandwidth) with appropriate caution to avoid unwanted signal distortion. Third, the patient and EMC interaction must be considered. Specifically, all electronic devices that can be removed should be powered down and relocated as far as feasible from the EDX system, including digital watches, cell phones, TENS units, and other such devices. A systematic application of the above proposed protocol should solve the majority of EI issues.</p>","PeriodicalId":18968,"journal":{"name":"Muscle & Nerve","volume":" ","pages":"317-342"},"PeriodicalIF":2.8,"publicationDate":"2025-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142813587","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Risdiplam in Adult Patients With 5q Spinal Muscular Atrophy: A Single-Center Longitudinal Study. 利斯地普兰治疗成人5q脊髓性肌萎缩:一项单中心纵向研究
IF 2.8 3区 医学
Muscle & Nerve Pub Date : 2025-03-01 Epub Date: 2024-12-26 DOI: 10.1002/mus.28327
Maria Gavriilaki, Maria Moschou, Maria Pagiantza, Marianthi Arnaoutoglou, Vasilios Kimiskidis
{"title":"Risdiplam in Adult Patients With 5q Spinal Muscular Atrophy: A Single-Center Longitudinal Study.","authors":"Maria Gavriilaki, Maria Moschou, Maria Pagiantza, Marianthi Arnaoutoglou, Vasilios Kimiskidis","doi":"10.1002/mus.28327","DOIUrl":"10.1002/mus.28327","url":null,"abstract":"<p><strong>Introduction/aims: </strong>Risdiplam was the first orally administered drug approved to treat spinal muscular atrophy (SMA). Efficacy in adults is based on short-term observational studies. This longitudinal study aimed to examine risdiplam's efficacy and safety in adults over a long period of follow-up.</p><p><strong>Methods: </strong>All eligible SMA patients ≥ 16 years old, followed at the Muscular Dystrophy Association Hellas Neuromuscular Diseases Unit between April 2021 and December 2023, were included. We prospectively evaluated motor function, muscle strength, and pulmonary function before and after 6, 12, 18, 24, and 30 months of treatment. Laboratory assessments and patient-reported adverse events were recorded.</p><p><strong>Results: </strong>Overall, 14 patients (18-57 years, 93% treatment-naive) received risdiplam for a median period of 28.5 months (range 6-30). There were statistically significant improvements in the Hammersmith Functional Motor Scale-Expanded (mean difference [MD] 1.5 [95%CI 0.49-2.42]), Revised Upper Limb Module (MD 1.6 [95%CI 0.54-2.73]), Motor Function Measurement-32 (MD 2.7[95%CI 1.52-3.93]), Medical Research Council scores of the upper (MD 3 [95%CI 0.8-5.2]), and lower (MD 1.7 [95%CI 0.1-3.3]) limbs (all p ≤ 0.05). Eighty-two percent of patients achieved a clinically meaningful improvement (CMI) in at least one scale. Overall, CMI occurred earlier in type 3 patients. SMA functional rating scale and respiratory function tests remained stable over time. Fifty-seven percent of patients did not report any adverse events. None discontinued treatment.</p><p><strong>Discussion: </strong>Risdiplam treatment over 30 months resulted in overall CMI in most treated adult SMA type 2 or 3 patients. Outpatient drug administration and overall patient management proved feasible and safe. Larger studies are warranted.</p>","PeriodicalId":18968,"journal":{"name":"Muscle & Nerve","volume":" ","pages":"384-391"},"PeriodicalIF":2.8,"publicationDate":"2025-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11799401/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142896394","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
The N-Terminal Fragment of Urine Titin Is Not a Product of Degradation by Calpain 3. 尿Titin的n端片段不是钙蛋白酶3降解的产物。
IF 2.8 3区 医学
Muscle & Nerve Pub Date : 2025-03-01 Epub Date: 2025-01-08 DOI: 10.1002/mus.28340
Yoshinori Nambu, Tsuyoshi Matsumura, Kyoka Machida, Rie Tsutsumi, Shoji Hata, Fumiko Shinkai-Ouchi, Yasuko Ono, Kayo Osawa, Taku Shirakawa, Ryosuke Bo, Hisahide Nishio, Hiroshi Sakaue, Hiroyuki Awano, Masafumi Matsuo
{"title":"The N-Terminal Fragment of Urine Titin Is Not a Product of Degradation by Calpain 3.","authors":"Yoshinori Nambu, Tsuyoshi Matsumura, Kyoka Machida, Rie Tsutsumi, Shoji Hata, Fumiko Shinkai-Ouchi, Yasuko Ono, Kayo Osawa, Taku Shirakawa, Ryosuke Bo, Hisahide Nishio, Hiroshi Sakaue, Hiroyuki Awano, Masafumi Matsuo","doi":"10.1002/mus.28340","DOIUrl":"10.1002/mus.28340","url":null,"abstract":"<p><strong>Introduction: </strong>A 20 kDa fragment at the N-terminus of titin is highly excreted in the urine of patients with Duchenne muscular dystrophy (DMD), making urine titin a prominent biomarker for muscle breakdown. This N-terminal fragment is presumed to be a product of degradation by a protein-degrading enzyme, calpain 3; however, whether calpain 3 is required remains unclear. We aimed to determine whether urine titin elevation occurs in the absence of calpain 3.</p><p><strong>Methods: </strong>We measured urine titin by ELISA in two genetically confirmed limb-girdle muscular dystrophy type R1(LGMDR1) patients, 11 other LGMD patients, and five healthy controls. Five Capn3-/- and nine wild-type mice were also examined.</p><p><strong>Results: </strong>Urine titin in LGMDR1 patients was ~100-fold higher than in controls (median 112.3 vs. 1.3 pmol/mg Cr, p < 0.0001), with no difference between LGMDR1 and other LGMD subtypes. Similarly, urine titin levels in Capn3-/- mice were more than four times higher than normal (p < 0.01).</p><p><strong>Discussion: </strong>These results suggest the involvement of other protein-degrading enzymes leading to the production of the N-terminal fragment.</p>","PeriodicalId":18968,"journal":{"name":"Muscle & Nerve","volume":" ","pages":"442-445"},"PeriodicalIF":2.8,"publicationDate":"2025-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11799402/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142952034","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
0
×
引用
GB/T 7714-2015
复制
MLA
复制
APA
复制
导出至
BibTeX EndNote RefMan NoteFirst NoteExpress
×
提示
您的信息不完整,为了账户安全,请先补充。
现在去补充
×
提示
您因"违规操作"
具体请查看互助需知
我知道了
×
提示
确定
请完成安全验证×
相关产品
×
本文献相关产品
联系我们:info@booksci.cn Book学术提供免费学术资源搜索服务,方便国内外学者检索中英文文献。致力于提供最便捷和优质的服务体验。 Copyright © 2023 布克学术 All rights reserved.
京ICP备2023020795号-1
ghs 京公网安备 11010802042870号
Book学术文献互助
Book学术文献互助群
群 号:481959085
Book学术官方微信