Muscle & Nerve最新文献_第3页

Comparison of Two Questionnaires for Sleep-Related Symptoms in Pediatric and Adult Patients With Myotonic Dystrophy Type 1.

IF 2.8 3区医学

Muscle & Nerve Pub Date : 2025-04-01 Epub Date: 2025-02-07 DOI: 10.1002/mus.28371

Eleonora Silvana D'Ambrosio, Megan Rose, Shannon Chagat, Grace R Paul, Megan A Waldrop

{"title":"Comparison of Two Questionnaires for Sleep-Related Symptoms in Pediatric and Adult Patients With Myotonic Dystrophy Type 1.","authors":"Eleonora Silvana D'Ambrosio, Megan Rose, Shannon Chagat, Grace R Paul, Megan A Waldrop","doi":"10.1002/mus.28371","DOIUrl":"10.1002/mus.28371","url":null,"abstract":"Introduction/aims: Sleep-related symptoms in myotonic dystrophy type 1 (DM1) are often unrecognized. This study aimed to integrate two sleep questionnaires into an outpatient clinic for assessing sleep disturbances in DM1 patients, while also developing a pediatric version of one questionnaire.Methods: We administered two sleep questionnaires to adult and pediatric patients with DM1: (1) the Epworth Sleepiness Scale (ESS), which assesses the likelihood of falling asleep under specific circumstances; and (2) the Functional Outcomes of Sleep Questionnaire-10 (FOSQ-10), which evaluates the impact of daytime sleepiness on activities of daily living. We also developed a pediatric version of the adult FOSQ-10 and compared it to the pediatric ESS.Results: Among 28 DM1 patients, 27 completed the questionnaires. More than half (15 of 26, eight children and seven adults) had abnormal scores on either or both questionnaires. FOSQ-10 scores tended to be more abnormal than ESS scores in pediatric patients. No significant correlations were found between questionnaire scores and CTG repeats, intellectual disability, age, or inheritance pattern. The pediatric FOSQ-10 questionnaire showed a strong correlation with the pediatric ESS correlation coefficient -0.79 (p = 0.002).Discussion: The integration of the ESS and the FOSQ-10 allowed for a more comprehensive assessment of fatigue, a well-documented symptom in DM1 and one that the ESS alone might not fully capture. Our findings highlight the importance of incorporating multiple tools to assess sleep-related symptoms in DM1 patients.","PeriodicalId":18968,"journal":{"name":"Muscle & Nerve","volume":" ","pages":"606-610"},"PeriodicalIF":2.8,"publicationDate":"2025-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143374454","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

Inhibition of SARM1 Reduces Neuropathic Pain in a Spared Nerve Injury Rodent Model.

IF 2.8 3区医学

Muscle & Nerve Pub Date : 2025-04-01 Epub Date: 2025-02-12 DOI: 10.1002/mus.28367

Christopher G Herbosa, Ronald Perez, Alexandra Jaeger, Christopher J Dy, David M Brogan

{"title":"Inhibition of SARM1 Reduces Neuropathic Pain in a Spared Nerve Injury Rodent Model.","authors":"Christopher G Herbosa, Ronald Perez, Alexandra Jaeger, Christopher J Dy, David M Brogan","doi":"10.1002/mus.28367","DOIUrl":"10.1002/mus.28367","url":null,"abstract":"Introduction/aims: The function of the sterile alpha and toll/interleukin receptor motif-containing protein 1 (SARM1) in neuropathic pain development has not yet been established. This protein has a central role in regulating axon degeneration and its depletion delays this process. This study aims to demonstrate the effects of SARM1 deletion on the development of neuropathic pain.Methods: Thirty-two wild-type (WT) or SARM1 knockout (KO) rats underwent spared nerve injury (SNI) or sham surgery. Mechanical allodynia was assessed by electronic Von Frey and cold hyperalgesia by the acetone test. Nociception was evaluated at the baseline, Day-1, Day-2, Week-1, Week-2, Week-3, and Week-4 time points. Nerve sections were examined by immunohistochemistry (IHC).Results: WT Injury rats were more sensitive to pain than WT Sham at all postoperative time points, validating the pain model. Injured SARM1 KO rats only demonstrated a difference in mechanical or cold nociception from KO Sham at Week 3. Injured KO rats demonstrated a clear trend of decreased sensitivity compared to WT Injury nociception, reaching significance at Week 4 (p = 0.044). Injured KO rats showed attenuated sensitivity to cold allodynia relative to WT at Week 2 (p = 0.019). IHC revealed decreased macrophages in spared sural nerves of injured KO animals at 2 and 4 weeks, and the proximal portion of tibial/peroneal nerves at Week 2.Discussion: This study demonstrates that SARM1 KO rats are less sensitive to mechanical and cold nociception than WT rats in an SNI model with decreased inflammatory response. Given these results, inhibition of SARM1 should be further investigated in the treatment of neuropathic pain.","PeriodicalId":18968,"journal":{"name":"Muscle & Nerve","volume":" ","pages":"670-679"},"PeriodicalIF":2.8,"publicationDate":"2025-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143399548","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

Akt Activation With IPL344 Treatment for Amyotrophic Lateral Sclerosis: First in Human, Open-Label Study.

IF 2.8 3区医学

Muscle & Nerve Pub Date : 2025-03-19 DOI: 10.1002/mus.28393

Marc Gotkine, David A Schoenfeld, Ilana Cohen, Jeremy M Shefner, Yossef Lerner, Irun R Cohen, Colin Klein, Eran Ovadia, Merit E Cudkowicz

{"title":"Akt Activation With IPL344 Treatment for Amyotrophic Lateral Sclerosis: First in Human, Open-Label Study.","authors":"Marc Gotkine, David A Schoenfeld, Ilana Cohen, Jeremy M Shefner, Yossef Lerner, Irun R Cohen, Colin Klein, Eran Ovadia, Merit E Cudkowicz","doi":"10.1002/mus.28393","DOIUrl":"https://doi.org/10.1002/mus.28393","url":null,"abstract":"Introduction/aims: Akt intracellular signal transduction pathway dysfunction has been reported in people with amyotrophic lateral sclerosis (ALS) providing a novel target for intervention in this devastating progressive disease. This first-in-human study evaluated the safety, tolerability, and preliminary efficacy of the Akt pathway activator, IPL344, in people with ALS.Methods: Nine participants with ALS and a progression rate > 0.55 points/month on the Amyotrophic Lateral Sclerosis Functional Rating Scale (ALSFRS-R) received open-label IPL344 treatment (once-daily) for up to 36 months. Safety was assessed through adverse event (AE) reporting. Plasma neurofilament light chain (NfL) concentrations were measured before and after treatment. Clinical outcomes were compared to historical data.Results: The mean ± SD duration of IPL344 follow-up was 14.0 ± 12.5 months. One participant developed drug hypersensitivity, two had central venous catheter-related AEs, and two had serious pneumonia AEs. The unadjusted mean ± SE slope of decline in ALSFRS-R was -0.53 ± 0.15 (48% slower progression vs. historical controls, p = 0.028). Adjustment for disease stage and rate-indicating covariates indicated a 64% slower ALSFRS-R progression (p = 0.034), with increased rather than reduced body weight (p = 0.02). Eight of nine IPL344-treated participants had a significantly improved slope compared to the median slope of a matched control group (p = 0.04). Plasma NfL concentrations were lowered by 27% (n = 6). Unadjusted median survival for participants in the IPL344 group was 43.4 months [95% CI: 20.5, NA] compared with 19.1 months [17.4, 23.0] in the historical control group.Discussion: These preliminary data indicate that IPL344 was safe and well-tolerated, and possibly effective. Our findings may merit further investigation in a larger placebo-controlled clinical trial.","PeriodicalId":18968,"journal":{"name":"Muscle & Nerve","volume":" ","pages":""},"PeriodicalIF":2.8,"publicationDate":"2025-03-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143657746","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

"An Ounce of Prevention…".

IF 2.8 3区医学

Muscle & Nerve Pub Date : 2025-03-17 DOI: 10.1002/mus.28395

Eleanor Greiner, Chet R Villa

引用次数: 0

Nerve Ultrasound Detects Nerve Atrophy in Patients With Ataxia-Telangiectasia: A Pilot Study. 神经超声检测共济失调-特朗吉克斯病患者的神经萎缩：一项试点研究。

IF 2.8 3区医学

Muscle & Nerve Pub Date : 2025-03-14 DOI: 10.1002/mus.28396

Antonio E Camelo-Filho, Pedro L G S B Lima, Rodrigo F da Rosa, Tito B S Soares, André L S Pessoa, Paulo R Nóbrega, Pedro Braga-Neto

{"title":"Nerve Ultrasound Detects Nerve Atrophy in Patients With Ataxia-Telangiectasia: A Pilot Study.","authors":"Antonio E Camelo-Filho, Pedro L G S B Lima, Rodrigo F da Rosa, Tito B S Soares, André L S Pessoa, Paulo R Nóbrega, Pedro Braga-Neto","doi":"10.1002/mus.28396","DOIUrl":"https://doi.org/10.1002/mus.28396","url":null,"abstract":"Introduction/aims: Ataxia-telangiectasia (A-T) is a genetic multisystem neurodegenerative disorder characterized by cerebellar ataxia, oculocutaneous telangiectasia, extrapyramidal involvement, peripheral sensorimotor neuropathy, immunodeficiency, pulmonary disease, and an increased risk of malignancy that ultimately determines the shortened lifespan in many patients. A-T nerve ultrasonographic characteristics remain underexplored. This pilot study aimed to characterize the ultrasonographic morphology of peripheral nerves in patients with A-T.Methods: Ultrasound cross-sectional areas (CSAs) of the median, ulnar, sural, and tibial nerves were obtained from three A-T patients and were compared to reference values. Nerve conduction studies and electromyography were also performed. Given the small sample size and the exploratory nature of this study, formal statistical analyses were not performed, and descriptive statistics were presented for the data.Results: Nerve CSAs in A-T patients were smaller than in healthy controls at all measurement sites.Discussion: Nerve ultrasound revealed atrophy in the peripheral nerves of A-T patients. This reduction in nerve size may distinguish A-T and highlights the utility of nerve ultrasound as a non-invasive diagnostic tool for peripheral sensorimotor neuropathy. These findings may have important implications for early detection in clinical practice.","PeriodicalId":18968,"journal":{"name":"Muscle & Nerve","volume":" ","pages":""},"PeriodicalIF":2.8,"publicationDate":"2025-03-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143630650","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

Utility of Median Nerve Electrophysiological Parameters in Differentiating Immune-Mediated Demyelination From Compressive Median Neuropathy at the Wrist.

IF 2.8 3区医学

Muscle & Nerve Pub Date : 2025-03-11 DOI: 10.1002/mus.28392

Metin Mercan, Vildan Yayla

{"title":"Utility of Median Nerve Electrophysiological Parameters in Differentiating Immune-Mediated Demyelination From Compressive Median Neuropathy at the Wrist.","authors":"Metin Mercan, Vildan Yayla","doi":"10.1002/mus.28392","DOIUrl":"https://doi.org/10.1002/mus.28392","url":null,"abstract":"Introduction/aims: Prolonged distal median motor latency (DML) may occur in carpal tunnel syndrome (CTS), potentially causing an electrodiagnostic dilemma in acquired demyelinating polyneuropathies. We aimed to demonstrate that parameter values obtained from conventional median nerve conduction studies can distinguish immune-mediated demyelination from compression-induced damage.Methods: We retrospectively reviewed the median nerve records of 73 control individuals, 125 patients with pure CTS, 31 with CTS and diabetic distal symmetric polyneuropathy, 36 with acute inflammatory demyelinating polyneuropathy, and 23 with chronic inflammatory demyelinating polyneuropathy. All patients exhibited DML prolonged by ≥ 50%. Optimal cut-off values were calculated with receiver operating characteristic curves.Results: The sensitivity and specificity of the optimal cut-off values forming the modified electrodiagnostic criteria were as follows: (a) distal compound muscle action potential duration of ≥ 8 ms (55.4% and 99.5%, respectively), (b) reduction of forearm motor conduction velocity by ≥ 30% (30.4% and 99.5%, respectively), (c) prolongation of minimum F-wave latency by ≥ 30% (58.9% and 99%, respectively), or (d) abnormal temporal dispersion of > 30% (14.1% and 100%, respectively). Using the modified electrodiagnostic criteria and the 2021 European Academy of Neurology/Peripheral Nerve Society electrodiagnostic criteria to define immune-mediated demyelination yielded sensitivities of 79.3% and 89.1% and specificities of 98.5% and 92.3%, respectively. Increased proximal conduction time and the presence of a mixed nerve-sparing pattern in the forearm did not offer additional diagnostic accuracy.Discussion: The proposed electrodiagnostic criteria for the median nerve are reliable for differentiating between immune-mediated demyelination and compression-induced damage, even in patients with extremely prolonged DML.","PeriodicalId":18968,"journal":{"name":"Muscle & Nerve","volume":" ","pages":""},"PeriodicalIF":2.8,"publicationDate":"2025-03-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143605868","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

Investigating the Mechanism of Conditioning Versus Postoperative Electrical Stimulation to Enhance Nerve Regeneration: One Therapy, Two Distinct Effects.

IF 2.8 3区医学

Muscle & Nerve Pub Date : 2025-03-11 DOI: 10.1002/mus.28385

Paige B Hardy, Bonnie Y Wang, K Ming Chan, Christine A Webber, Jenna-Lynn B Senger

{"title":"Investigating the Mechanism of Conditioning Versus Postoperative Electrical Stimulation to Enhance Nerve Regeneration: One Therapy, Two Distinct Effects.","authors":"Paige B Hardy, Bonnie Y Wang, K Ming Chan, Christine A Webber, Jenna-Lynn B Senger","doi":"10.1002/mus.28385","DOIUrl":"https://doi.org/10.1002/mus.28385","url":null,"abstract":"Regeneration after peripheral nerve injury is often insufficient for functional recovery. Postoperative electrical stimulation (PES) following injury and repair significantly improves clinical outcomes; recently, conditioning electrical stimulation (CES), delivered before nerve injury, has been introduced as a candidate for clinical translation. PES accelerates the crossing of regenerating axons across the injury site, whereas CES accelerates the intrinsic rate of axonal regeneration; thus, it is likely that their mechanisms are distinct. The large body of literature investigating the mechanisms of electrical stimulation has not differentiated between CES and PES. In this review, we investigate the CES and PES paradigms within the existing literature, distinguish their mechanistic insights, and identify gaps in the literature. A systematic literature review was conducted, selecting articles identifying the pro-regenerative effects of electrical stimulation in the setting of peripheral nerve injury. As a mechanistic template, both paradigms implicate cation channels for the initiation of numerous signaling pathways that together upregulate regeneration-associated genes. CES and PES feature some overlap; activation of PI3K and MAPK signaling pathways, and upregulation of BDNF, GAP43, and GFAP are similar. Currently, the inflammatory environment in which PES is administered predominantly differentiates these mechanisms. However, gaps within the literature complicate the comparison between paradigms. Systematic review revealed the mechanisms for both CES and PES paradigms remain fragmented; though much of the literature assumes the involvement of particular signaling pathways, the evidence remains limited. Though it is likely there is overlap between mechanisms, further investigation is needed.","PeriodicalId":18968,"journal":{"name":"Muscle & Nerve","volume":" ","pages":""},"PeriodicalIF":2.8,"publicationDate":"2025-03-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143605867","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

Racial Disparities in ALS Progression: Time to Clinical Events Observed in a Single Center.

IF 2.8 3区医学

Muscle & Nerve Pub Date : 2025-03-10 DOI: 10.1002/mus.28390

Shanshan Chen, Demetrius Carter, Jillian Prier, JoBeth Bingham, Shital Patel, Manisha Kotay, Paula Burke Brockenbrough, Kelly Gwathmey

{"title":"Racial Disparities in ALS Progression: Time to Clinical Events Observed in a Single Center.","authors":"Shanshan Chen, Demetrius Carter, Jillian Prier, JoBeth Bingham, Shital Patel, Manisha Kotay, Paula Burke Brockenbrough, Kelly Gwathmey","doi":"10.1002/mus.28390","DOIUrl":"https://doi.org/10.1002/mus.28390","url":null,"abstract":"Introduction/aims: Studies examining racial differences in ALS have previously focused on diagnostic delay and disease severity. Time to critical clinical events has rarely been investigated, despite its importance in revealing differences in ALS patients' disease courses. This study explores racial disparities in time to specific clinical events in Black and non-Hispanic White ALS patients at a single center.Methods: We performed a retrospective analysis of 33 Black and 170 non-Hispanic White ALS patients examined at Virginia Commonwealth University between 2017 and 2023. Diagnosis dates, referral dates for wheelchair, noninvasive ventilation (NIV), augmentative and alternative communication (AAC) and hospice, along with demographic and clinical factors, were collected. We analyzed the racial difference for events occurring before or on the day of diagnosis using logistic regression models, and for events occurring after diagnosis using Cox proportional hazard models, adjusting for relevant demographic and clinical factors.Results: Black patients had significantly higher odds of acquiring a wheelchair (odds ratio = 4.06, p = 0.015) and NIV before diagnosis (odds ratio = 2.93, p = 0.017). Following diagnosis, Black patients had 1.72 times the hazards for wheelchair referral (p = 0.051), 2.17 times the hazard for NIV referral (p < 0.001), 1.84 times the hazard for AAC referral (p = 0.034), and 1.59 times the hazard for hospice referral (p = 0.24).Discussion: Our single-center findings demonstrate a large racial difference in time to clinical events for Black versus White ALS patients referred for NIV, AAC, hospice, and wheelchair, suggesting more advanced disease at the time of presentation or more rapid progression.","PeriodicalId":18968,"journal":{"name":"Muscle & Nerve","volume":" ","pages":""},"PeriodicalIF":2.8,"publicationDate":"2025-03-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143597256","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

Neuromuscular Ultrasound Training: Bridging the Gap.

IF 2.8 3区医学

Muscle & Nerve Pub Date : 2025-03-08 DOI: 10.1002/mus.28391

Nens van Alfen, Eman A Tawfik

引用次数: 0

Sustained Minimal Manifestations With Extended Interval Dosing of Efgartigimod in Seronegative Myasthenia Gravis: Case Report.

IF 2.8 3区医学

Muscle & Nerve Pub Date : 2025-03-05 DOI: 10.1002/mus.28388

Teppei Komatsu, Haruhiko Motegi, Yoshitaka Nakayama, Hiromasa Matsuno, Hidetaka Mitsumura, Yasuyuki Iguchi

引用次数: 0