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RRNMF Neuromuscular journal最新文献

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RYR1: A story about calcium channels and the people who have them RYR1:一个关于钙通道和拥有钙通道的人的故事
RRNMF Neuromuscular journal Pub Date : 2023-09-15 DOI: 10.17161/rrnmf.v4i4.20029
Vincent Czerwinski
{"title":"RYR1: A story about calcium channels and the people who have them","authors":"Vincent Czerwinski","doi":"10.17161/rrnmf.v4i4.20029","DOIUrl":"https://doi.org/10.17161/rrnmf.v4i4.20029","url":null,"abstract":"","PeriodicalId":488724,"journal":{"name":"RRNMF Neuromuscular journal","volume":"68 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2023-09-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"135395815","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}
引用次数: 0
Intraneural ganglion cyst of the peroneal nerve at the lateral knee: A case report and literature review 膝外侧腓神经神经节囊肿1例并文献复习
RRNMF Neuromuscular journal Pub Date : 2023-09-15 DOI: 10.17161/rrnmf.v4i4.19881
Jonathan Morena, Brian Yang, Steve Lee, Dustin Paul, Dora Leung
{"title":"Intraneural ganglion cyst of the peroneal nerve at the lateral knee: A case report and literature review","authors":"Jonathan Morena, Brian Yang, Steve Lee, Dustin Paul, Dora Leung","doi":"10.17161/rrnmf.v4i4.19881","DOIUrl":"https://doi.org/10.17161/rrnmf.v4i4.19881","url":null,"abstract":"Introduction: Intraneural ganglion cysts can arise from the peroneal nerve at the lateral knee secondary to synovial fluid tracking along the articular branch and transforming within the nerve into a mucinous cyst, resulting in nerve compression.
 
 Case Report: A 17-year-old right-handed male presented with a four-month history of right foot drop. He is physically active and attributed the foot drop to a sprained ankle. EMG/NCS showed a right common peroneal neuropathy distal to the innervation of the biceps femoris short head with active denervation. MRI showed an intraneural ganglion cyst in the common peroneal nerve starting at the level of biceps femoris. On exam, he had right foot drop and sensory deficits referable to the peroneal distribution, along with a right steppage gait. He had successful decompression of the ganglion cyst, excision of the articular branch and resection of the proximal tibiofibular joint, with clinical improvement.
 
 Conclusion: Early recognition and surgical treatment leads to better outcomes for patients when an intraneural ganglion cyst results in neurologic deficits. Physical activities and trauma, which increase stress on the knee joints, may predispose ganglion cyst formation within peroneal nerves. Fibers of the deep peroneal nerve may be preferentially affected when compared to the superficial peroneal nerve. Disconnection of the articular branch and proximal tibiofibular joint resection may decrease risk of recurrence.","PeriodicalId":488724,"journal":{"name":"RRNMF Neuromuscular journal","volume":"35 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2023-09-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"135395820","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}
引用次数: 0
severe case of Pembrolizumab-induced triad of myasthenic crisis, myocarditis, and anti-SSA myositis 潘姆单抗诱发的肌无力危象、心肌炎和抗ssa肌炎三联征的重症病例
RRNMF Neuromuscular journal Pub Date : 2023-09-15 DOI: 10.17161/rrnmf.v4i4.19844
Rola Mahmoud, Nathan McGraw, Amy Poindexter, Gowri Warikoo
{"title":"severe case of Pembrolizumab-induced triad of myasthenic crisis, myocarditis, and anti-SSA myositis","authors":"Rola Mahmoud, Nathan McGraw, Amy Poindexter, Gowri Warikoo","doi":"10.17161/rrnmf.v4i4.19844","DOIUrl":"https://doi.org/10.17161/rrnmf.v4i4.19844","url":null,"abstract":"A man in his late 70s presented with one week of progressive chest and muscle pain, generalized weakness, and fatigue. He received a single infusion of pembrolizumab three weeks prior as adjuvant immunotherapy for stage IIb malignant melanoma after undergoing wide local surgical excision. He was started on steroids for pembrolizumab-induced myositis and myocarditis. Symptoms progressed to include severe dyspnea, dysphagia and eyelid ptosis requiring tracheostomy and PEG tube placement. Serologic studies ultimately confirmed myasthenia gravis and anti-SSA myositis. 
 He was emergently treated with plasma exchange, pyridostigmine, Intravenous Immunoglobulin (IVIG) and is making gradual improvement with physical therapy and oral prednisone taper.
 We report a severe case of Pembrolizumab-induced triad of myasthenic crisis, myocarditis with myositis specific anti-SSA 52kD Ab IgG autoantibody for the first time. More studies are needed to assess the clinical significance and prognostic value of this autoantibody in patients presenting with Pembrolizumab-induced triad.","PeriodicalId":488724,"journal":{"name":"RRNMF Neuromuscular journal","volume":"136 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2023-09-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"135396280","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}
引用次数: 0
Isolated hypoglossal nerve palsy secondary to basilar artery compression: A case report and reviewing of electrodiagnostic evaluation of the hypoglossal nerve 继发于基底动脉压迫的孤立性舌下神经麻痹:1例报告及舌下神经电诊断评价回顾
RRNMF Neuromuscular journal Pub Date : 2023-09-15 DOI: 10.17161/rrnmf.v4i4.20475
Spencer Osbourn, Tiffany Pike-Lee
{"title":"Isolated hypoglossal nerve palsy secondary to basilar artery compression: A case report and reviewing of electrodiagnostic evaluation of the hypoglossal nerve","authors":"Spencer Osbourn, Tiffany Pike-Lee","doi":"10.17161/rrnmf.v4i4.20475","DOIUrl":"https://doi.org/10.17161/rrnmf.v4i4.20475","url":null,"abstract":"Introduction: Hypoglossal nerve palsy causes ipsilateral tongue weakness, commonly presenting with dysphagia, dysarthria, or perceived tongue weakness. Vascular compression is a rare cause of isolated hypoglossal nerve palsies. Imaging and serologic labs are common parts of the evaluation of hypoglossal nerve palsies. Though less commonly used, electrodiagnostic studies can be important in the diagnostic evaluation of hypoglossal nerve palsies. Case: We report a case of a 53-year-old man with dysphagia found to have a left hypoglossal nerve palsy secondary to vascular compression from the basilar artery confirmed by electrodiagnostic and radiographic studies and we provide a review of the electrodiagnostic evaluation of the hypoglossal nerve.","PeriodicalId":488724,"journal":{"name":"RRNMF Neuromuscular journal","volume":"53 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2023-09-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"135395817","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}
引用次数: 0
Letter from the Founding Facilitator for Volume 4, Issue 4 第4卷第4期创始协调人的信
RRNMF Neuromuscular journal Pub Date : 2023-09-15 DOI: 10.17161/rrnmf.v4i4.21278
Richard J. Barohn
{"title":"Letter from the Founding Facilitator for Volume 4, Issue 4","authors":"Richard J. Barohn","doi":"10.17161/rrnmf.v4i4.21278","DOIUrl":"https://doi.org/10.17161/rrnmf.v4i4.21278","url":null,"abstract":"","PeriodicalId":488724,"journal":{"name":"RRNMF Neuromuscular journal","volume":"205 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2023-09-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"135395818","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}
引用次数: 0
Amyotrophic lateral sclerosis and spinocerebellar ataxia type 2: A familial case report 肌萎缩性侧索硬化症和脊髓小脑性共济失调2型:1例家族性报告
RRNMF Neuromuscular journal Pub Date : 2023-09-15 DOI: 10.17161/rrnmf.v4i4.20573
Shirani Rajan, Maysen Mesaros, Mohamed Menofy, Katherine Ruzhansky
{"title":"Amyotrophic lateral sclerosis and spinocerebellar ataxia type 2: A familial case report","authors":"Shirani Rajan, Maysen Mesaros, Mohamed Menofy, Katherine Ruzhansky","doi":"10.17161/rrnmf.v4i4.20573","DOIUrl":"https://doi.org/10.17161/rrnmf.v4i4.20573","url":null,"abstract":"Introduction While separate and phenotypically distinct diseases, spinocerebellar ataxia type 2 (SCA2) and amyotrophic lateral sclerosis (ALS) share a genetic association via a trinucleotide (CAG) repeat expansion in the ATXN2 gene [1,2]. While ubiquitin-positive cytoplasmic inclusions of trans-activate response DNA-binding protein (TARDBP or TDP-43) are known to be pathognomonic for ALS, these TDP-43 inclusions are also seen in the cytoplasm of motor neurons in SCA2. This elucidates an interconnected pathway of gene overexpression and protein toxicity [2,3]. Full expansion is associated with an increased presence of TDP-43 inclusions in the cytoplasm of degenerating neurons [4]. While the genetic association between ALS and SCA2 via the ATXN2 gene is well established, there are few reports demonstrating intrafamilial phenotypic variability of ATXN2 mutations. Here we report a family with separate and distinct phenotypes via repeat expansions in ATXN2, whose presentations do not align with their expected phenotypes based on CAG repeat size.","PeriodicalId":488724,"journal":{"name":"RRNMF Neuromuscular journal","volume":"33 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2023-09-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"135395642","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}
引用次数: 0
RYR1 myopathy complicated by RSV bronchiolitis requiring intubation leading to posthypoxic leukoencephalopathy in a 4 year-old. 1例4岁儿童RYR1肌病合并RSV细支气管炎，需要插管导致后毒性脑白质病。
RRNMF Neuromuscular journal Pub Date : 2023-09-15 DOI: 10.17161/rrnmf.v4i4.19949
Vincent Czerwinski, Shawn Sood, Francesca Perez Marques, Travis Langner, Kelly Dahlstrom, Kyle Summers
{"title":"RYR1 myopathy complicated by RSV bronchiolitis requiring intubation leading to posthypoxic leukoencephalopathy in a 4 year-old.","authors":"Vincent Czerwinski, Shawn Sood, Francesca Perez Marques, Travis Langner, Kelly Dahlstrom, Kyle Summers","doi":"10.17161/rrnmf.v4i4.19949","DOIUrl":"https://doi.org/10.17161/rrnmf.v4i4.19949","url":null,"abstract":"Central core disease due to RYR1 mutations is a rare heterogeneous myopathy characterized by skeletal muscle weakness. In light of both the rarity of presentation as well as the relatively broad spectrum of clinical phenotypes, there is a need to report treatment strategies for common complications of this condition. In this case, we outline the ICU management of a 4 year-old girl with central core disease caused by RYR1 mutation who was hospitalized due to respiratory syncytial virus (RSV) bronchiolitis leading to respiratory failure. Her hospital stay was complicated by multiple failed extubations, hospital infections, and post-anoxic leukoencephalopathy.","PeriodicalId":488724,"journal":{"name":"RRNMF Neuromuscular journal","volume":"25 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2023-09-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"135395819","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}
引用次数: 0
Introduction to the 2023 Neuromuscular Study Group 2023神经肌肉研究小组简介
RRNMF Neuromuscular journal Pub Date : 2023-09-15 DOI: 10.17161/rrnmf.v4i4.21304
Richard J. Barohn, Michael Hanna
{"title":"Introduction to the 2023 Neuromuscular Study Group","authors":"Richard J. Barohn, Michael Hanna","doi":"10.17161/rrnmf.v4i4.21304","DOIUrl":"https://doi.org/10.17161/rrnmf.v4i4.21304","url":null,"abstract":"","PeriodicalId":488724,"journal":{"name":"RRNMF Neuromuscular journal","volume":"31 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2023-09-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"135395645","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}
引用次数: 0
Profits over patients 利润高于病人
RRNMF Neuromuscular journal Pub Date : 2023-09-15 DOI: 10.17161/rrnmf.v4i4.19564
Joshua Freeman
{"title":"Profits over patients","authors":"Joshua Freeman","doi":"10.17161/rrnmf.v4i4.19564","DOIUrl":"https://doi.org/10.17161/rrnmf.v4i4.19564","url":null,"abstract":"","PeriodicalId":488724,"journal":{"name":"RRNMF Neuromuscular journal","volume":"23 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2023-09-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"135396285","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}
引用次数: 0
Clinical Outcomes in COVID-19 patients with pre-existing myasthenia gravis: COVID-19合并重症肌无力患者的临床结局:
RRNMF Neuromuscular journal Pub Date : 2023-09-15 DOI: 10.17161/rrnmf.v4i4.20317
Ahmed Daif, Tejal Gapchup, Pritikanta Paul
{"title":"Clinical Outcomes in COVID-19 patients with pre-existing myasthenia gravis:","authors":"Ahmed Daif, Tejal Gapchup, Pritikanta Paul","doi":"10.17161/rrnmf.v4i4.20317","DOIUrl":"https://doi.org/10.17161/rrnmf.v4i4.20317","url":null,"abstract":"INTRODUCTION: Myasthenia gravis (MG) presents an additional challenge in managing COVID-19 as outcomes potentially depend on prior disease control and treatment. Yet the role of pre-existing MG in COVID-19 outcomes has not been established.
 METHODS: We searched PubMed, Scopus, and Web of Science databases for reports of MG patients with confirmed COVID-19 until March 2022. We analyzed data on patient demographics, chronicity, and MG control at baseline pre-COVID, treatment history and outcome following COVID infection.
 RESULTS: Twenty-nine publications with 119 patients (females n=75, age range 20-93 years, AChR Ab positive n= 65, MuSK Ab positive n= 5, seronegative n=14, unknown n=35) were included. Eighty-three (70%) were hospitalized, more than half with MG exacerbation. There was no significant difference in disease duration or control of MG symptoms at baseline between hospitalized and non-hospitalized. Hospitalization was associated with higher dose of daily prednisone but a comparable proportion of patients were on steroid-sparing agents. Among hospitalized patients, 40% were intubated uncorrelated with MG baseline control. Unfavorable outcome was not always associated with MG exacerbation. Amongst those discharged,75% received intravenous immunoglobulin (IVIG) or Plasmapheresis (PLEX) for MG exacerbation as compared to 67% with a fatal outcome didn’t receive either.
 CONCLUSION: Preexisting MG does not appear to be associated with severe COVID-19 outcomes. Higher dose of prednisone prior to COVID-19 infection is associated with increased risk of hospitalization but MG control at baseline did not determine worse outcome. IVIG/PLEX appears safe and potentially can reduce fatality in patients with COVID-19 experiencing MG exacerbation.","PeriodicalId":488724,"journal":{"name":"RRNMF Neuromuscular journal","volume":"33 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2023-09-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"135395648","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}
引用次数: 0
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