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Serum Creatine Kinase and Transaminase Levels in Duchenne and Becker Muscular Dystrophies. 杜氏和贝克尔肌营养不良症患者血清肌酸激酶和转氨酶水平。
IF 3.1 3区 医学
Muscle & Nerve Pub Date : 2025-08-01 Epub Date: 2025-05-11 DOI: 10.1002/mus.28431
Marie Rohlenová, Kateřina Machová, Jana Baranová, Lenka Mokrá, Livie Mensová, Radim Mazanec, Lenka Juříková, Jan Staněk, Petra Fuchsová, Barbora Lauerová, Markéta Kumhera, Jana Haberlová
{"title":"Serum Creatine Kinase and Transaminase Levels in Duchenne and Becker Muscular Dystrophies.","authors":"Marie Rohlenová, Kateřina Machová, Jana Baranová, Lenka Mokrá, Livie Mensová, Radim Mazanec, Lenka Juříková, Jan Staněk, Petra Fuchsová, Barbora Lauerová, Markéta Kumhera, Jana Haberlová","doi":"10.1002/mus.28431","DOIUrl":"10.1002/mus.28431","url":null,"abstract":"<p><strong>Introduction/aims: </strong>The distinction between hepatic and muscular origin of transaminases in Duchenne (DMD) and Becker (BMD) muscular dystrophy is challenging. We aimed to describe the relations between creatine kinase (CK), lactate dehydrogenase (LDH), myoglobin, and alanine aminotransferase (ALT), aspartate aminotransferase (AST), gamma glutamyltransferase (GGT), and their evolution with age, the severity of the disease, and its complications (corticosteroid therapy, cardiac ejection fraction, body mass index [BMI]).</p><p><strong>Methods: </strong>Multiple regression analysis of the studied markers was performed in three cohorts: 1. Retrospective data of 212 DMD and BMD boys available in the national registry of muscular dystrophies (REaDY), and 2. Cross-sectional study supplemented by retrospective data of A. 64 DMD boys and B. 18 adults with either BMD or B/DMD carriers.</p><p><strong>Results: </strong>The estimation of normal levels of transaminases from CK levels was: ALT [UI/L] = 228.508 + 0.011*CK [UI/L] ± 341.822for DMD, and ALT [UI/L] = 124.498 + 0.011*CK [UI/L] ± 341.822for BMD. AST [UI/L] = 167.436 + 0.012*CK [UI/L]-6.323*Age ± 249.804 for both (all p < 0.001). In the smaller cohort, ALT was best predicted by LDH and physical performance, whereas AST was defined by CK and LDH combined (all p < 0.001). In DMD, all AST, ALT, CK, LDH, and myoglobin decreased with age (p < 0.001), while GGT increased with age and BMI (both p < 0.001).</p><p><strong>Discussion: </strong>Transaminases are dependent on CK and LDH in dystrophinopathy. There is an increase in GGT in DMD connected to BMI.</p>","PeriodicalId":18968,"journal":{"name":"Muscle & Nerve","volume":" ","pages":"240-249"},"PeriodicalIF":3.1,"publicationDate":"2025-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144019063","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
Educating the Next Generation of Neuromuscular and Electrodiagnostic Practitioners: Challenges and Opportunities. 培养下一代神经肌肉和电诊断从业者:挑战和机遇。
IF 3.1 3区 医学
Muscle & Nerve Pub Date : 2025-08-01 Epub Date: 2025-05-27 DOI: 10.1002/mus.28443
Lawrence R Robinson
{"title":"Educating the Next Generation of Neuromuscular and Electrodiagnostic Practitioners: Challenges and Opportunities.","authors":"Lawrence R Robinson","doi":"10.1002/mus.28443","DOIUrl":"10.1002/mus.28443","url":null,"abstract":"<p><p>Today's neuromuscular (NM) and electrodiagnostic medicine (EDM) trainees learn very differently from those of times past. There are a variety of new tools available to them, with nearly ubiquitous access to information, technology, and social media, along with high expectations regarding immediate access to information. At the same time, they require assistance honing their reflective and critical thinking skills. Educators are encouraged to develop explicit goals of training and to consider new teaching methods such as the flipped classroom and the one-minute preceptor. Use of humor in education, when appropriate, can help with information retention and managing stress and emotion in the healthcare team. Despite inherent barriers, educators need to fail learners who do not meet expectations to benefit both learners and patients. Self-assessment examinations (SAEs) can provide very valuable feedback for both individuals and programs, as well as the field. Those who perform poorly on SAEs have a low chance of passing a subsequent certification examination. Performance on the electrodiagnostic SAE improves with increasing numbers of patient studies, not leveling out until roughly 300-400 studies have been completed; this suggests a possible benchmark for training. Poor performance on initial certification examinations is strongly correlated with the risk of subsequent state medical board disciplinary action; such individuals will want to make a special effort to stay informed and up to date. After initial certification examinations, ongoing longitudinal assessment programs can combine formative and summative assessments for both learning and certification.</p>","PeriodicalId":18968,"journal":{"name":"Muscle & Nerve","volume":" ","pages":"212-216"},"PeriodicalIF":3.1,"publicationDate":"2025-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144151291","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
Frequency of Guillain-Barré Syndrome During the COVID-19 Pandemic: A Multicenter Study. COVID-19大流行期间格林-巴勒综合征的发生率:一项多中心研究
IF 3.1 3区 医学
Muscle & Nerve Pub Date : 2025-08-01 Epub Date: 2025-05-05 DOI: 10.1002/mus.28430
Toshiyuki Hayashi, Tatsushi Toda, Atsuro Chiba, Nobutaka Hattori, Masahiro Sonoo, Hideto Nakajima, Takanori Yokota, Yasuyuki Iguchi, Hidetomo Murakami, Haruhisa Kato, Osamu Kano, Kazuo Kitagawa, Satoshi Kitagawa, Hiroshi Nagayama, Kazumi Kimura
{"title":"Frequency of Guillain-Barré Syndrome During the COVID-19 Pandemic: A Multicenter Study.","authors":"Toshiyuki Hayashi, Tatsushi Toda, Atsuro Chiba, Nobutaka Hattori, Masahiro Sonoo, Hideto Nakajima, Takanori Yokota, Yasuyuki Iguchi, Hidetomo Murakami, Haruhisa Kato, Osamu Kano, Kazuo Kitagawa, Satoshi Kitagawa, Hiroshi Nagayama, Kazumi Kimura","doi":"10.1002/mus.28430","DOIUrl":"10.1002/mus.28430","url":null,"abstract":"<p><strong>Introduction/aims: </strong>The incidence of Guillain-Barré syndrome (GBS) during the COVID-19 pandemic varies according to country. We investigated the changes in the number of patients with GBS and their characteristics who were reported in Tokyo in 2020 at the beginning of the COVID-19 pandemic, compared to those two years prior.</p><p><strong>Methods: </strong>Patients with GBS who were admitted between January 2018 and December 2020 to hospitals in Tokyo were retrospectively included. We collected data on preceding infections, clinical symptoms, spinal fluid test results, nerve conduction study results, and anti-glycolipid antibody levels.</p><p><strong>Results: </strong>Thirty-four of 57 hospitals (59.6%) participated in this survey and reported 330 patients with GBS over three years. The number of patients in 2020 (n = 71) was significantly lower than in 2018 (n = 124) and 2019 (n = 135) (p = 0.0014). The number of patients with antecedent gastroenteritis (p = 0.03) or upper respiratory tract infections (p = 0.0003) in 2020 was significantly lower than the averages in 2018 and 2019. Analysis by subtype showed that the number of patients with Miller Fisher syndrome (p = 0.0009) and Bickerstaff brainstem encephalitis (p = 0.04) significantly decreased in 2020. The number of patients seropositive for anti-glycolipid antibodies, especially anti-GQ1b antibodies, decreased in 2020 (p = 0.0002).</p><p><strong>Discussion: </strong>Infection control strategies during the COVID-19 pandemic resulted in fewer patients with preceding infections in Tokyo, which contributed to a decrease in the overall number of reported patients with GBS. Precautions for infection may reduce the frequency of patients with GBS.</p>","PeriodicalId":18968,"journal":{"name":"Muscle & Nerve","volume":" ","pages":"224-229"},"PeriodicalIF":3.1,"publicationDate":"2025-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144028374","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
Switching Enzyme Replacement Therapy for Late-Onset Pompe Disease From Alglucosidase Alfa to Cipaglucosidase Alfa Plus Miglustat: Post Hoc Effect Size Analysis of PROPEL. 转换酶替代疗法治疗迟发性庞贝病,从α糖苷酶到α糖苷酶加米卢司他:事后效应大小分析
IF 3.1 3区 医学
Muscle & Nerve Pub Date : 2025-08-01 Epub Date: 2025-05-07 DOI: 10.1002/mus.28420
Hani Kushlaf, Jordi Díaz-Manera, Drago Bratkovic, Barry J Byrne, Kristl G Claeys, Paula R Clemens, Mazen M Dimachkie, Priya S Kishnani, Pascal Laforêt, Mark Roberts, Benedikt Schoser, Antonio Toscano, Jeff Castelli, Fred Holdbrook, Sheela Sitaraman Das, Mitchell Goldman, Tahseen Mozaffar
{"title":"Switching Enzyme Replacement Therapy for Late-Onset Pompe Disease From Alglucosidase Alfa to Cipaglucosidase Alfa Plus Miglustat: Post Hoc Effect Size Analysis of PROPEL.","authors":"Hani Kushlaf, Jordi Díaz-Manera, Drago Bratkovic, Barry J Byrne, Kristl G Claeys, Paula R Clemens, Mazen M Dimachkie, Priya S Kishnani, Pascal Laforêt, Mark Roberts, Benedikt Schoser, Antonio Toscano, Jeff Castelli, Fred Holdbrook, Sheela Sitaraman Das, Mitchell Goldman, Tahseen Mozaffar","doi":"10.1002/mus.28420","DOIUrl":"10.1002/mus.28420","url":null,"abstract":"<p><strong>Introduction/aims: </strong>The randomized, double-blind PROPEL study (NCT03729362) suggested benefits for cipaglucosidase alfa plus miglustat (cipa+mig) versus alglucosidase alfa plus placebo (alg+pbo) in enzyme replacement therapy (ERT)-experienced adults with late-onset Pompe disease (LOPD). To further assess treatment response and the effect of switching treatment from alg to cipa+mig, we conducted a within-group effect size analysis in ERT-experienced patients.</p><p><strong>Methods: </strong>In this post hoc analysis, standardized within-group effect sizes (Cohen's d for correlated measurements from baseline to week 52) were calculated by dividing the mean change from baseline by the corresponding standard deviation for motor function, lung function, and muscle strength outcomes; patient-reported outcomes/quality of life; and biomarker levels (creatine kinase and hexose tetrasaccharide).</p><p><strong>Results: </strong>In PROPEL, 77% of patients received ERT with alg before study entry (median ERT duration 7.4 years). ERT-experienced patients remaining on alg+pbo (n = 30) generally showed within-group worsening (d ≤ -0.2) or stability (-0.2 < d < 0.2) across most outcomes, while those switched to cipa+mig (n = 65) mostly showed improvement (d ≥ 0.2) or stability. Patients remaining on alg+pbo demonstrated statistically significant worsening for several lung function outcomes, biomarker levels, and significant improvement for Patient-Reported Outcomes Measurement Information System (PROMIS)-Dyspnea. Patients switched to cipa+mig did not demonstrate significant worsening for any outcomes and showed significant improvements for 6-min walk distance (absolute and % predicted); upper, lower, and overall manual muscle testing; PROMIS-Fatigue; Physician (overall score) and Subject Global Impression of Change (5/8 subdomains); and biomarker levels.</p><p><strong>Discussion: </strong>ERT-experienced patients with LOPD who switched from alg to cipa+mig treatment achieved improvements or stability in most outcomes.</p><p><strong>Trial registration: </strong>ClinicalTrials.gov identifier: NCT03729362.</p>","PeriodicalId":18968,"journal":{"name":"Muscle & Nerve","volume":" ","pages":"230-239"},"PeriodicalIF":3.1,"publicationDate":"2025-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144029060","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
Response to the Letter From Gaul-Muller and Bach on NIV Intolerance, NIV Settings and Mortality in MND Patients With Gastrostomy. 对gault - muller和Bach关于胃造口术患者NIV不耐受、NIV设置和死亡率的信函的回应。
IF 3.1 3区 医学
Muscle & Nerve Pub Date : 2025-08-01 Epub Date: 2025-06-13 DOI: 10.1002/mus.28456
Jie Yang, Svein Van Oyen, Merrilee Needham, Emily Calton
{"title":"Response to the Letter From Gaul-Muller and Bach on NIV Intolerance, NIV Settings and Mortality in MND Patients With Gastrostomy.","authors":"Jie Yang, Svein Van Oyen, Merrilee Needham, Emily Calton","doi":"10.1002/mus.28456","DOIUrl":"10.1002/mus.28456","url":null,"abstract":"","PeriodicalId":18968,"journal":{"name":"Muscle & Nerve","volume":" ","pages":"338-339"},"PeriodicalIF":3.1,"publicationDate":"2025-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144285449","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
Nerve Ultrasound for Detecting Morphologic Changes in Malnourished Children Under 5 Years of Age: A Comparative Study of Nutritional Intervention Outcomes in Bangladesh. 神经超声检测5岁以下营养不良儿童的形态学变化:孟加拉国营养干预结果的比较研究。
IF 3.1 3区 医学
Muscle & Nerve Pub Date : 2025-08-01 Epub Date: 2025-05-14 DOI: 10.1002/mus.28432
Nurun Nahar Naila, Aklima Alam, Gobinda Karmakar, M Munirul Islam, Tahmeed Ahmed, Badrul Islam
{"title":"Nerve Ultrasound for Detecting Morphologic Changes in Malnourished Children Under 5 Years of Age: A Comparative Study of Nutritional Intervention Outcomes in Bangladesh.","authors":"Nurun Nahar Naila, Aklima Alam, Gobinda Karmakar, M Munirul Islam, Tahmeed Ahmed, Badrul Islam","doi":"10.1002/mus.28432","DOIUrl":"10.1002/mus.28432","url":null,"abstract":"<p><strong>Introduction/aims: </strong>Malnourished children may experience disrupted peripheral nerve myelination, leading to impaired nerve conduction. However, ultrasound data on nerve morphology in severely malnourished children are lacking. Therefore, we performed a systematic study, comparing nerve ultrasound in malnourished children to controls.</p><p><strong>Methods: </strong>Nerve cross-sectional area (CSA) was assessed in three categories of malnourished (severe acute malnutrition [SAM], stunted, and wasted) and healthy Bangladeshi children aged 6-59 months to compare morphological changes at baseline (pre-intervention) and post-nutritional intervention.</p><p><strong>Results: </strong>A total of 74 children were enrolled, including 17 with SAM, 19 wasted, 18 stunted, and 20 healthy controls. SAM children showed smaller nerve CSA compared to wasted peers, particularly in the sciatic nerve (8.25 mm<sup>2</sup> vs. 11.48 mm<sup>2</sup>, p = 0.035) and median nerve proximal wrist (2.65 mm<sup>2</sup> vs. 2.90 mm<sup>2</sup>, p = 0.004) among 6-23-month-olds. In the 24-59-month group, the median nerve proximal wrist CSA in SAM children was 2.30 mm<sup>2</sup> versus 3.90 mm<sup>2</sup> in healthy children (p = 0.019), and sciatic nerve CSA was 9.05 mm<sup>2</sup> versus 16.60 mm<sup>2</sup> (p = 0.008). Nutritional intervention improved z-scores in SAM children numerically, though not significantly within the study period.</p><p><strong>Discussion: </strong>SAM children had smaller nerve CSA compared with wasted, stunted, and healthy children at specific nerve locations. These findings underscore the substantial impact of SAM on nerve morphology and the importance of early, sustained nutritional interventions, warranting further validation through animal models and large-scale studies in both children and adults.</p>","PeriodicalId":18968,"journal":{"name":"Muscle & Nerve","volume":" ","pages":"258-266"},"PeriodicalIF":3.1,"publicationDate":"2025-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144079232","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
Chronic Inflammatory Demyelinating Polyneuropathy: How Pathophysiology Can Guide Treatment. 慢性炎性脱髓鞘性多神经病变:病理生理学如何指导治疗。
IF 3.1 3区 医学
Muscle & Nerve Pub Date : 2025-08-01 Epub Date: 2025-05-20 DOI: 10.1002/mus.28438
Karissa L Gable, Yingkai Li
{"title":"Chronic Inflammatory Demyelinating Polyneuropathy: How Pathophysiology Can Guide Treatment.","authors":"Karissa L Gable, Yingkai Li","doi":"10.1002/mus.28438","DOIUrl":"10.1002/mus.28438","url":null,"abstract":"<p><p>Chronic inflammatory demyelinating polyneuropathy (CIDP) is an autoimmune demyelinating neuropathy that is most commonly characterized clinically by progressive proximal and distal weakness affecting the upper and lower extremities, sensory loss, and reduced or absent reflexes. These symptoms evolve over the time course of 8 weeks or more. While the majority of CIDP demonstrates this clinical phenotype, there are CIDP variants as well. The milieu of the underlying pathophysiology and immunologic factors involved is complex and involves components of both the innate and adaptive immune systems. As more is understood about the underlying pathophysiology, novel targets and patterns have emerged guiding further classification and management. This is most notable in the discovery of antibodies targeting paranodal and nodal regions related to anti-neurofascin-155 and anti-contactin-1 antibody-mediated disease resulting in a reclassification as demyelinating nodo-paranodopathies. Triggering antigens and correlative antibodies for CIDP are otherwise undiscovered. While first-line therapies for CIDP currently are broad and non-targeted, a shift in approach has been to develop specific targeted treatments guided by what is understood about the underlying pathophysiology. Some of these targets include specific types of B-cell depletion, complement inhibition, immunoglobulin G (IgG) reduction via inhibition of the neonatal Fc receptor (FcRn) recycling of IgGs, treatments related to T-cell dysfunction, and macrophage inhibition.</p>","PeriodicalId":18968,"journal":{"name":"Muscle & Nerve","volume":" ","pages":"201-211"},"PeriodicalIF":3.1,"publicationDate":"2025-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144102238","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
Details Matter: The Difference Between NIV and NVS. 细节很重要:NIV 和 NVS 的区别。
IF 3.1 3区 医学
Muscle & Nerve Pub Date : 2025-08-01 Epub Date: 2025-04-07 DOI: 10.1002/mus.28400
Kelli Gaul-Muller, John R Bach
{"title":"Details Matter: The Difference Between NIV and NVS.","authors":"Kelli Gaul-Muller, John R Bach","doi":"10.1002/mus.28400","DOIUrl":"10.1002/mus.28400","url":null,"abstract":"","PeriodicalId":18968,"journal":{"name":"Muscle & Nerve","volume":" ","pages":"336-337"},"PeriodicalIF":3.1,"publicationDate":"2025-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143795788","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
Peripheral Nervous System Involvement of Hereditary Transthyretin Amyloidosis in the United States: A Multi-Center Perspective. 遗传性甲状腺素淀粉样变累及美国周围神经系统:多中心视角。
IF 3.1 3区 医学
Muscle & Nerve Pub Date : 2025-08-01 Epub Date: 2025-05-20 DOI: 10.1002/mus.28414
Urvi Desai, Hristelina S Ilieva, James E Eyer, Amanda C Peltier
{"title":"Peripheral Nervous System Involvement of Hereditary Transthyretin Amyloidosis in the United States: A Multi-Center Perspective.","authors":"Urvi Desai, Hristelina S Ilieva, James E Eyer, Amanda C Peltier","doi":"10.1002/mus.28414","DOIUrl":"10.1002/mus.28414","url":null,"abstract":"<p><strong>Introduction/aims: </strong>Hereditary transthyretin amyloidosis (ATTRv) is an autosomal dominant multisystem disorder that occurs worldwide. The most common mutation in the United States, V142I, has previously been described as having a primarily cardiac presentation. However, the prevalence of peripheral neuropathy (PN) in V142I ATTRv patients is unclear. We aimed to characterize and compare the peripheral nervous system involvement of the Val142Ile (V142I, previously V122I) ATTRv mutation with other known ATTRv mutations.</p><p><strong>Methods: </strong>A retrospective, cross-sectional study was carried out on patients with genetically confirmed ATTRv at 3 institutions from 2018 to 2022. Neuropathic, autonomic, and cardiac symptoms and signs, as well as electrodiagnostic study results, were reviewed for each patient.</p><p><strong>Results: </strong>Fifty-eight V142I and eighteen non-V142I ATTRv patients were evaluated. The majority of V142I patients had signs of PN, with abnormal pinprick sensitivity and temperature loss (74%), weakness (60%), and loss of deep tendon reflexes (59%). The presence of lightheadedness (29%) and gastrointestinal symptoms (14%) suggested autonomic involvement. PN characteristics and the prevalence of median mononeuropathy did not differ significantly between V142I and non-V142I patients. The population of V142I patients was disproportionately African American (86%) as expected.</p><p><strong>Discussion: </strong>Polyneuropathy is more commonly found in V142I ATTRv patients than previously reported and has a wide range of phenotypes. A low threshold for neurology referral and electrodiagnostic studies in at-risk populations is encouraged.</p>","PeriodicalId":18968,"journal":{"name":"Muscle & Nerve","volume":" ","pages":"286-293"},"PeriodicalIF":3.1,"publicationDate":"2025-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144111297","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
Function of the Normal Neuromuscular Junction in Young Children. 幼儿正常神经肌肉连接处的功能。
IF 3.1 3区 医学
Muscle & Nerve Pub Date : 2025-08-01 Epub Date: 2025-05-28 DOI: 10.1002/mus.28445
Márk Kozák, Katalin Szatmári, Erzsébet Németh, Béla Fülesdi, Attila Nagy, Attila Tóth, Judit Boczán
{"title":"Function of the Normal Neuromuscular Junction in Young Children.","authors":"Márk Kozák, Katalin Szatmári, Erzsébet Németh, Béla Fülesdi, Attila Nagy, Attila Tóth, Judit Boczán","doi":"10.1002/mus.28445","DOIUrl":"10.1002/mus.28445","url":null,"abstract":"<p><strong>Introduction/aims: </strong>The repetitive nerve stimulation (RNS) test is fundamental to test the functional integrity of the neuromuscular junction. RNS data are scarce for newborns and young children, limiting early diagnostic efforts to identify children with neuromuscular diseases. Here, we performed RNS in young children.</p><p><strong>Methods: </strong>RNS of the axillary nerve was performed in 34 otherwise healthy young children (0 to 48 months of age) undergoing procedural sedation or analgesia. Compound muscle action potentials (CMAP) were recorded over the deltoid muscle. CMAP amplitude and area decrement between the 1st and 4th potential were determined at 3 Hz stimulation. Post-tetanic facilitation, twitch-to-tetanus ratio, and heart rates were recorded.</p><p><strong>Results: </strong>The largest CMAP amplitude decrement value was 7% at rest, having a median of 1%, and an interquartile range of 1%-3%. There was no correlation between the CMAP amplitude decrement and age. In contrast, a moderate positive correlation was found between the CMAP area decrement and age, occasionally exceeding 10% in infants younger than 6 months. Both post-tetanic facilitation and twitch-to-tetanus ratio exhibited a moderate positive correlation with age.</p><p><strong>Discussion: </strong>While the CMAP amplitude decrement in young children was within the adult normal range, the area decrement may be higher. Studies of RNS on other nerves in unsedated children are needed to investigate the findings from this study further.</p>","PeriodicalId":18968,"journal":{"name":"Muscle & Nerve","volume":" ","pages":"306-312"},"PeriodicalIF":3.1,"publicationDate":"2025-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144160303","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
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