{"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":null,"pages":null},"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}
{"title":"Primary Care, Private Equity, and Profit","authors":"Joshua Freeman","doi":"10.17161/rrnmf.v5i1.21346","DOIUrl":"https://doi.org/10.17161/rrnmf.v5i1.21346","url":null,"abstract":"","PeriodicalId":309700,"journal":{"name":"RRNMF Neuromuscular Journal","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2024-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140087581","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}
{"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":null,"pages":null},"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}
Humzah Ahmad, Malvika Govil, Salman Bhai, Chunyu Cai
{"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":null,"pages":null},"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}
{"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":null,"pages":null},"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}
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":null,"pages":null},"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}
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":null,"pages":null},"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}
D. Jabari, A. Heim, A. Ciersdorff, Heather Wilkins, Abdulbaki Agbas, E. Kosa, Suzanne Hunt, M. Pasnoor, M. Dimachkie, R. Barohn
{"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":null,"pages":null},"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}
Stephen Rostad, Linder Wendt, Mia Poleksic, Bryan Hutchinson-Reuss, Heather Bingham, D. Fattal
{"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":null,"pages":null},"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}
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