Pub Date : 2024-03-01DOI: 10.17161/rrnmf.v5i1.21232
Richard Bedlack, Daragh Heitzman, Jeremy Shefner
{"title":"A Worsening Problem in ALS: Insurance Barriers Between Drug Approvals and Patient Access","authors":"Richard Bedlack, Daragh Heitzman, Jeremy Shefner","doi":"10.17161/rrnmf.v5i1.21232","DOIUrl":"https://doi.org/10.17161/rrnmf.v5i1.21232","url":null,"abstract":"","PeriodicalId":309700,"journal":{"name":"RRNMF Neuromuscular Journal","volume":"6 13","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140083742","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2024-03-01DOI: 10.17161/rrnmf.v5i1.20953
Sankalp Mohan, M. Dhamne
The most common acquired immune mediated polyneuropathies are acute inflammatory demyelinating polyradiculoneuropathy(AIDP), a form of Gullian Barre syndrome (GBS) and chronic inflammatory demyelinating polyradiculoneuropathy(CIDP). Sixteen percent of CIDP patients may present acutely like AIDP, developing in less than 8 weeks. Also GBS which is usually monophasic can have recurrences . Distinguishing Acute onset CIDP(A-CIDP) and recurrent AIDP may be difficult in early stages but may be crucial to guide the treatment strategies.
{"title":"Recurrent Guillian Barre’ Syndrome vs acute onset CIDP - study of 2 cases.","authors":"Sankalp Mohan, M. Dhamne","doi":"10.17161/rrnmf.v5i1.20953","DOIUrl":"https://doi.org/10.17161/rrnmf.v5i1.20953","url":null,"abstract":"The most common acquired immune mediated polyneuropathies are acute inflammatory demyelinating polyradiculoneuropathy(AIDP), a form of Gullian Barre syndrome (GBS) and chronic inflammatory demyelinating polyradiculoneuropathy(CIDP). Sixteen percent of CIDP patients may present acutely like AIDP, developing in less than 8 weeks. Also GBS which is usually monophasic can have recurrences . Distinguishing Acute onset CIDP(A-CIDP) and recurrent AIDP may be difficult in early stages but may be crucial to guide the treatment strategies.","PeriodicalId":309700,"journal":{"name":"RRNMF Neuromuscular Journal","volume":"18 17","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140083556","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2024-03-01DOI: 10.17161/rrnmf.v5i1.21026
Humzah Ahmad, Malvika Govil, Salman Bhai, Chunyu Cai
A 45-year-old man presented to neuromuscular clinic after a first-time episode of non-traumatic rhabdomyolysis after aerobic exercise. Prior to his diagnosis, he had an extensive medical workup to evaluate for elevated transaminases and creatinine, including liver and renal biopsies. On history, the patient confirmed a lifelong history of exercise intolerance. Creatine kinase evaluation revealed an elevated baseline value. Genetic testing disclosed homozygous variants of uncertain significance and required exercise testing and muscle biopsy to identify the underlying etiology. This case demonstrates pitfalls of genetic testing and an approach to identify this form of myopathy.
{"title":"Rhabdomyolysis and Exercise Intolerance in a 45-Year-Old Man","authors":"Humzah Ahmad, Malvika Govil, Salman Bhai, Chunyu Cai","doi":"10.17161/rrnmf.v5i1.21026","DOIUrl":"https://doi.org/10.17161/rrnmf.v5i1.21026","url":null,"abstract":"A 45-year-old man presented to neuromuscular clinic after a first-time episode of non-traumatic rhabdomyolysis after aerobic exercise. Prior to his diagnosis, he had an extensive medical workup to evaluate for elevated transaminases and creatinine, including liver and renal biopsies. On history, the patient confirmed a lifelong history of exercise intolerance. Creatine kinase evaluation revealed an elevated baseline value. Genetic testing disclosed homozygous variants of uncertain significance and required exercise testing and muscle biopsy to identify the underlying etiology. This case demonstrates pitfalls of genetic testing and an approach to identify this form of myopathy.","PeriodicalId":309700,"journal":{"name":"RRNMF Neuromuscular Journal","volume":"15 4","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140083640","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2024-03-01DOI: 10.17161/rrnmf.v3i4.18622
Donald Frey
{"title":"What Does It Take To Make a Living Wage?","authors":"Donald Frey","doi":"10.17161/rrnmf.v3i4.18622","DOIUrl":"https://doi.org/10.17161/rrnmf.v3i4.18622","url":null,"abstract":"","PeriodicalId":309700,"journal":{"name":"RRNMF Neuromuscular Journal","volume":"10 20","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140090942","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2024-03-01DOI: 10.17161/rrnmf.v5i1.21510
R. Barohn, M. Dimachkie, Todd D. Levine, D. Saperstein, Jonathan S. Katz
{"title":"Pattern Recognition of Neuropathy and Neuronopathy","authors":"R. Barohn, M. Dimachkie, Todd D. Levine, D. Saperstein, Jonathan S. Katz","doi":"10.17161/rrnmf.v5i1.21510","DOIUrl":"https://doi.org/10.17161/rrnmf.v5i1.21510","url":null,"abstract":"","PeriodicalId":309700,"journal":{"name":"RRNMF Neuromuscular Journal","volume":" 661","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140092589","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2024-03-01DOI: 10.17161/rrnmf.v5i1.21509
Todd D. Levine, R. Barohn, David S. Saperstein, Jonathan S. Katz, Mazen M Dimachkie
{"title":"Laboratory testing in peripheral nerve disorders","authors":"Todd D. Levine, R. Barohn, David S. Saperstein, Jonathan S. Katz, Mazen M Dimachkie","doi":"10.17161/rrnmf.v5i1.21509","DOIUrl":"https://doi.org/10.17161/rrnmf.v5i1.21509","url":null,"abstract":"","PeriodicalId":309700,"journal":{"name":"RRNMF Neuromuscular Journal","volume":" July","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140092822","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2024-03-01DOI: 10.17161/rrnmf.v5i1.20037
Stephen Rostad, Linder Wendt, Mia Poleksic, Bryan Hutchinson-Reuss, Heather Bingham, D. Fattal
Introduction/Aims: The purpose of this work was to investigate survival outcomes in patients with amyotrophic lateral sclerosis (ALS) at our Veteran’s Affairs Medical Center multidisciplinary ALS clinic and compare this to relevant data from several European studies. Methods: Our sample consisted of 56 total Veterans (n=56; 54 males, 2 females) that had been seen between June 24, 2013 and February 1, 2021 at our multidisciplinary ALS clinic. Results: The median survival time of our Veterans from symptom onset was 40.96 months (95% CI of 32.17, 76.07), and the median survival time from diagnosis was 23.77 months (95% CI of 18.64, 38.58). This was consistent with the literature. Further consistent with the literature is that multidisciplinary clinics, including ours, have survival advantage over general neurology clinics. Analyzing factors that contributed to this survival, we found significant protective effect on survival from Edaravone use (HR = 0.32, p = 0.036). Otherwise, there was no significant effect on survival noted from use of percutaneous endoscopic gastrostomy (PEG), non-invasive ventilation (NIV), or Riluzole. Conclusion: We found no significant difference in survival rates between our U.S. Veterans in our multidisciplinary ALS clinic and European multidisciplinary ALS clinics, and both are better than general neurology clinics. We also found that Edaravone use may provide some benefit to survival in this patient population.
导言/目的：这项研究的目的是调查退伍军人事务医疗中心 ALS 多学科门诊中肌萎缩侧索硬化症（ALS）患者的生存结果，并将其与几项欧洲研究的相关数据进行比较。研究方法我们的样本包括 2013 年 6 月 24 日至 2021 年 2 月 1 日期间在多学科 ALS 诊所就诊的 56 名退伍军人（n=56；54 名男性，2 名女性）。结果退伍军人从症状出现起的中位生存时间为 40.96 个月（95% CI 为 32.17 到 76.07），从确诊起的中位生存时间为 23.77 个月（95% CI 为 18.64 到 38.58）。这与文献报道一致。与文献报道进一步一致的是，多学科诊所（包括我们的诊所）比普通神经病学诊所更具生存优势。在分析导致存活率提高的因素时，我们发现使用依达拉奉对存活率有显著的保护作用（HR = 0.32，P = 0.036）。除此之外，使用经皮内镜胃造瘘术（PEG）、无创通气（NIV）或利鲁唑对存活率没有明显影响。结论我们发现美国退伍军人在我们的多学科 ALS 诊所和欧洲多学科 ALS 诊所的存活率没有明显差异，都优于普通神经病学诊所。我们还发现，使用依达拉奉可能会对这类患者的存活率有所帮助。
{"title":"Survival and multidisciplinary amyotrophic lateral sclerosis clinic care at a United States Veterans Affairs medical center","authors":"Stephen Rostad, Linder Wendt, Mia Poleksic, Bryan Hutchinson-Reuss, Heather Bingham, D. Fattal","doi":"10.17161/rrnmf.v5i1.20037","DOIUrl":"https://doi.org/10.17161/rrnmf.v5i1.20037","url":null,"abstract":"Introduction/Aims: The purpose of this work was to investigate survival outcomes in patients with amyotrophic lateral sclerosis (ALS) at our Veteran’s Affairs Medical Center multidisciplinary ALS clinic and compare this to relevant data from several European studies. \u0000Methods: Our sample consisted of 56 total Veterans (n=56; 54 males, 2 females) that had been seen between June 24, 2013 and February 1, 2021 at our multidisciplinary ALS clinic. \u0000Results: The median survival time of our Veterans from symptom onset was 40.96 months (95% CI of 32.17, 76.07), and the median survival time from diagnosis was 23.77 months (95% CI of 18.64, 38.58). This was consistent with the literature. Further consistent with the literature is that multidisciplinary clinics, including ours, have survival advantage over general neurology clinics. Analyzing factors that contributed to this survival, we found significant protective effect on survival from Edaravone use (HR = 0.32, p = 0.036). Otherwise, there was no significant effect on survival noted from use of percutaneous endoscopic gastrostomy (PEG), non-invasive ventilation (NIV), or Riluzole. \u0000Conclusion: We found no significant difference in survival rates between our U.S. Veterans in our multidisciplinary ALS clinic and European multidisciplinary ALS clinics, and both are better than general neurology clinics. We also found that Edaravone use may provide some benefit to survival in this patient population.","PeriodicalId":309700,"journal":{"name":"RRNMF Neuromuscular Journal","volume":"39 3","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140082495","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2024-03-01DOI: 10.17161/rrnmf.v5i1.21356
D. Jabari, A. Heim, A. Ciersdorff, Heather Wilkins, Abdulbaki Agbas, E. Kosa, Suzanne Hunt, M. Pasnoor, M. Dimachkie, R. Barohn
Introduction Phenylbutyrate (PBA) showed positive effect on the muscle cell model of Inclusion Body Myositis (IBM) by improving lysosomal activity, ameliorating consequences of impaired autophagy, and decreasing vacuolization. This provides rationale to study this medication in patients with IBM. Objectives To evaluate the safety and tolerability of phenylbutyrate in IBM, and monitor for any early signal of effectiveness. Methods Open-label study of 10 subjects with IBM who received treatment with PBA for 3 months after a 3-month run-in period. The PBA dose was 3 gm twice daily. The primary outcome measure was adverse event reporting. Secondary outcome measures included manual muscle testing, timed up and go test, IBM functional rating scale, and grip strength, along with exploratory biomarkers evaluating the mitochondrial function, stress response, degenerative process, and apoptosis. Results Ten subjects completed the study. PBA was well tolerated with no serious adverse events related to it. The most common adverse events were gastrointestinal related and did not require stopping treatment. One of the biomarkers (MitoTracker) showed a statistically significant drop over the treatment period of the study (p-value of 0.02 for the mean change). There were no statistically significant changes in other secondary outcome measures, but the study was limited by a small sample size and short treatment period. Conclusions Phenylbutyrate was safe and well tolerated in patients with IBM in this pilot study. The change in the MitoTracker suggests target engagement, but a Phase II study is needed to confirm and study the efficacy of PBA in IBM
引言 丁酸苯酯（PBA）对包涵体肌炎（IBM）的肌肉细胞模型有积极作用，它能提高溶酶体活性，改善自噬功能受损的后果，减少空泡化。这为在 IBM 患者中研究这种药物提供了依据。目的 评估苯丁酸盐治疗 IBM 的安全性和耐受性，并监测任何早期疗效信号。方法 对 10 名 IBM 受试者进行开放标签研究，在 3 个月的磨合期后接受为期 3 个月的 PBA 治疗。PBA 剂量为 3 克，每天两次。主要结果指标为不良事件报告。次要结果指标包括手动肌肉测试、定时起立和走动测试、IBM 功能评分量表和握力，以及评估线粒体功能、应激反应、退化过程和细胞凋亡的探索性生物标志物。结果 10 名受试者完成了研究。受试者对 PBA 的耐受性良好，未出现严重不良反应。最常见的不良反应与胃肠道有关，无需停止治疗。其中一个生物标志物（线粒体追踪器）在研究治疗期间出现了统计学意义上的显著下降（平均变化的 p 值为 0.02）。其他次要结果指标未出现统计学意义上的显著变化，但该研究受到样本量小和治疗时间短的限制。结论 在这项试点研究中，苯丁酸盐对 IBM 患者安全且耐受性良好。线粒体追踪器的变化表明目标参与，但还需要进行二期研究，以确认和研究苯丁酸盐对 IBM 的疗效。
{"title":"Safety and tolerability of phenylbutyrate in inclusion body myositis","authors":"D. Jabari, A. Heim, A. Ciersdorff, Heather Wilkins, Abdulbaki Agbas, E. Kosa, Suzanne Hunt, M. Pasnoor, M. Dimachkie, R. Barohn","doi":"10.17161/rrnmf.v5i1.21356","DOIUrl":"https://doi.org/10.17161/rrnmf.v5i1.21356","url":null,"abstract":"Introduction \u0000Phenylbutyrate (PBA) showed positive effect on the muscle cell model of Inclusion Body Myositis (IBM) by improving lysosomal activity, ameliorating consequences of impaired autophagy, and decreasing vacuolization. This provides rationale to study this medication in patients with IBM. \u0000Objectives \u0000To evaluate the safety and tolerability of phenylbutyrate in IBM, and monitor for any early signal of effectiveness. \u0000Methods \u0000Open-label study of 10 subjects with IBM who received treatment with PBA for 3 months after a 3-month run-in period. The PBA dose was 3 gm twice daily. The primary outcome measure was adverse event reporting. Secondary outcome measures included manual muscle testing, timed up and go test, IBM functional rating scale, and grip strength, along with exploratory biomarkers evaluating the mitochondrial function, stress response, degenerative process, and apoptosis. \u0000Results \u0000Ten subjects completed the study. PBA was well tolerated with no serious adverse events related to it. The most common adverse events were gastrointestinal related and did not require stopping treatment. One of the biomarkers (MitoTracker) showed a statistically significant drop over the treatment period of the study (p-value of 0.02 for the mean change). There were no statistically significant changes in other secondary outcome measures, but the study was limited by a small sample size and short treatment period. \u0000Conclusions \u0000Phenylbutyrate was safe and well tolerated in patients with IBM in this pilot study. The change in the MitoTracker suggests target engagement, but a Phase II study is needed to confirm and study the efficacy of PBA in IBM","PeriodicalId":309700,"journal":{"name":"RRNMF Neuromuscular Journal","volume":"67 15","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140085324","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
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