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RRNMF Neuromuscular Journal最新文献

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Medicare Advantage - Whose Advantage Is It? 医疗保险优势-谁的优势?
RRNMF Neuromuscular Journal Pub Date : 2023-02-07 DOI: 10.17161/rrnmf.v4i1.18970
Donald Frey
{"title":"Medicare Advantage - Whose Advantage Is It?","authors":"Donald Frey","doi":"10.17161/rrnmf.v4i1.18970","DOIUrl":"https://doi.org/10.17161/rrnmf.v4i1.18970","url":null,"abstract":"","PeriodicalId":309700,"journal":{"name":"RRNMF Neuromuscular Journal","volume":"56 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2023-02-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"133720518","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
2022 KCMD Symposium Abstracts 2022年KCMD研讨会摘要
RRNMF Neuromuscular Journal Pub Date : 2023-02-07 DOI: 10.17161/rrnmf.v4i1.18825
V. Authors
{"title":"2022 KCMD Symposium Abstracts","authors":"V. Authors","doi":"10.17161/rrnmf.v4i1.18825","DOIUrl":"https://doi.org/10.17161/rrnmf.v4i1.18825","url":null,"abstract":"","PeriodicalId":309700,"journal":{"name":"RRNMF Neuromuscular Journal","volume":"1 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2023-02-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"129887292","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
The Effects of Testosterone and Transcutaneous Muscle Stimulation on Strength and Muscle Mass in Myotonic Dystrophy 睾酮和经皮肌肉刺激对强直性肌营养不良患者力量和肌肉质量的影响
RRNMF Neuromuscular Journal Pub Date : 2023-02-07 DOI: 10.17161/rrnmf.v3i4.18396
Salman F Bhai, A. Lizarraga, Morgan McCreary, S. Kolkin, J. Kissel, R. Barohn
{"title":"The Effects of Testosterone and Transcutaneous Muscle Stimulation on Strength and Muscle Mass in Myotonic Dystrophy","authors":"Salman F Bhai, A. Lizarraga, Morgan McCreary, S. Kolkin, J. Kissel, R. Barohn","doi":"10.17161/rrnmf.v3i4.18396","DOIUrl":"https://doi.org/10.17161/rrnmf.v3i4.18396","url":null,"abstract":"         In myotonic dystrophy type 1 (DM1) quadriceps weakness often results in severe functional limitations and genu recurvatum. To improve quadriceps strength the effects of isometric tetanic contractions using transcutaneous muscle stimulation (TMS) and testosterone enanthate (TE) were assessed. Ten DM1 subjects underwent unilateral TMS 6 hours per day for 14 days. The stimulated leg was randomly assigned and sham stimulation was done on the opposite leg by transcutaneous nerve stimulation. Muscle mass was estimated by cross-sectional area computed tomography and strength was measured by Cybex ergometry. Following the initial TMS period, 8 of 10 subjects were given a 12-week course of TE (3 mg/kg/wk) followed by 14 days of TMS. Neither TMS nor TE improved strength.  Following 12 weeks of TE, there was an average increase in muscle mass of at least 8.7 +/- 1.6 cm2. These findings are consistent with the TE—increased muscle mass in DM1 as measured by creatinine clearance and total body potassium. The dissociation of mass and strength following TE and the failure of exercise to improve strength may have significance in characterizing the muscle defect in DM1.","PeriodicalId":309700,"journal":{"name":"RRNMF Neuromuscular Journal","volume":"18 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2023-02-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"124285804","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
Non-5q Spinal Muscular Atrophy in a Patient With a Novel BICD2 Missense Variant 一种新型BICD2错义变异患者的非5q脊髓性肌萎缩
RRNMF Neuromuscular Journal Pub Date : 2023-02-07 DOI: 10.17161/rrnmf.v4i1.17002
N. Park, M. Muriello, D. Basel, Caroline Kielczewski, Matthew Harmelink
{"title":"Non-5q Spinal Muscular Atrophy in a Patient With a Novel BICD2 Missense Variant","authors":"N. Park, M. Muriello, D. Basel, Caroline Kielczewski, Matthew Harmelink","doi":"10.17161/rrnmf.v4i1.17002","DOIUrl":"https://doi.org/10.17161/rrnmf.v4i1.17002","url":null,"abstract":"Variants in BICD cargo adapter 2 (BICD2) cause autosomal dominant spinal muscular atrophy with lower extremity dominance (SMALED2) which is characterized with lower extremity muscle weakness and atrophy. We describe a novel, heterozygous BICD2 variant (c.1661T>C, [p.Leu554Pro]) in a 21-month-old female patient with a more severe phenotypic presentation than the typical SMALED2 expression including arthrogryposis multiplex congenita, absent deep tendon reflexes, respiratory insufficiency, and cerebral depression. The variant p.Leu554Pro is located just outside of a domain that interacts with the motor protein KIF5A. The detailed neuro-phenotyping and clinical course presented here expand the understanding of BICD2 related disease.","PeriodicalId":309700,"journal":{"name":"RRNMF Neuromuscular Journal","volume":"4 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2023-02-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"126479406","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
p.Val142lle/p.Val122lle (C.424G>A) Transthyretin Mutation Presenting Exclusively As Small Fiber Neuropathy p.Val142lle / p。Val122lle (C.424G>A)转甲状腺素突变仅表现为小纤维神经病
RRNMF Neuromuscular Journal Pub Date : 2022-09-26 DOI: 10.17161/rrnmf.v3i3.16362
U. Desai, H. Ilieva, A. Peltier
{"title":"p.Val142lle/p.Val122lle (C.424G>A) Transthyretin Mutation Presenting Exclusively As Small Fiber Neuropathy","authors":"U. Desai, H. Ilieva, A. Peltier","doi":"10.17161/rrnmf.v3i3.16362","DOIUrl":"https://doi.org/10.17161/rrnmf.v3i3.16362","url":null,"abstract":"Familial amyloid polyneuropathy is a rare autosomal dominant disorder caused by mutations in the transthyretin gene, TTR. More than 100 mutations in the TTR gene are known. p.Val30Met was identified first as a cause of FAP and is the most common mutation worldwide. p.Val30Met is associated with peripheral neuropathy while p.Val142lle (C.424G>A) (also known as p.Val122lle)  is associated with cardiac amyloidosis [1, 2, 3] . In this context, we report a patient harboring p.Val142lle mutation with exclusive small fiber neuropathy and absence of any cardiac involvement representing genotypic-phenotypic heterogenicity.","PeriodicalId":309700,"journal":{"name":"RRNMF Neuromuscular Journal","volume":"1 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2022-09-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"130758047","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
“Ear of the Lynx" radiological sign in a patient with Primary Lateral Sclerosis. 原发性侧索硬化患者的“山猫耳”放射学征象。
RRNMF Neuromuscular Journal Pub Date : 2022-09-26 DOI: 10.17161/rrnmf.v3i3.18049
N. Katyal, Praveen Attele, Bryce C. Hoelscher, E. Ensrud, R. Barohn
{"title":"“Ear of the Lynx\" radiological sign in a patient with Primary Lateral Sclerosis.","authors":"N. Katyal, Praveen Attele, Bryce C. Hoelscher, E. Ensrud, R. Barohn","doi":"10.17161/rrnmf.v3i3.18049","DOIUrl":"https://doi.org/10.17161/rrnmf.v3i3.18049","url":null,"abstract":"The “Ear of the Lynx\" radiological sign refers to fluid attenuated inversion recovery (FLAIR) sequence cone-shaped abnormalities at the forceps minor region of genu of corpus callosum, seen on magnetic resonance imaging (MRI) of the brain. This radiological sign has been reported in Hereditary Spastic Paraplegia (SPG) type 11 and SPG Type 15. In this case report, we discuss the first description of this radiological sign in a 59 year old female patient with PLS. \u0000 ","PeriodicalId":309700,"journal":{"name":"RRNMF Neuromuscular Journal","volume":"28 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2022-09-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"131298233","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
Atypical Myasthenia Gravis Presentation with Limb-Girdle Weakness 非典型重症肌无力伴肢带无力
RRNMF Neuromuscular Journal Pub Date : 2022-09-26 DOI: 10.17161/rrnmf.v3i3.16509
Joshua Luster, Brent Jacdobus, J. Sladky, Timothy R Fullam
{"title":"Atypical Myasthenia Gravis Presentation with Limb-Girdle Weakness","authors":"Joshua Luster, Brent Jacdobus, J. Sladky, Timothy R Fullam","doi":"10.17161/rrnmf.v3i3.16509","DOIUrl":"https://doi.org/10.17161/rrnmf.v3i3.16509","url":null,"abstract":"Myasthenia Gravis is a disorder characterized by autoantibodies targeting different proteins across the neuromuscular junction. The typical presentation of Myasthenia Gravis involves oculobulbar weakness, classically ptosis that may or may not be symmetric. Patients may also present with a more dramatic presentation of generalized weakness or even in myasthenic crisis requiring respiratory support for oxygenation. While these are the common presentations, our patient, a 63 year old male, presented with an atypical presentation of what is described as Limb-Girdle Myasthenia Gravis. This patient presented with proximal arm and leg weakness that rapidly progressed and lead to loss of reflexes, appearing to be a myelopathy prior to obtaining an electromyography/nerve conduction study which demonstrated decrement of 21% in ulnar, 22% in median, and 59% of radial nerves during 2Hz repetitive stimulation. Our patient improved with plasmapheresis and prednisone with full recovery of strength.","PeriodicalId":309700,"journal":{"name":"RRNMF Neuromuscular Journal","volume":"20 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2022-09-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"128070652","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 3, Issue 3 第3卷第3期创始协调人的信
RRNMF Neuromuscular Journal Pub Date : 2022-09-26 DOI: 10.17161/rrnmf.v3i3.18508
R. Barohn
{"title":"Letter from the Founding Facilitator for Volume 3, Issue 3","authors":"R. Barohn","doi":"10.17161/rrnmf.v3i3.18508","DOIUrl":"https://doi.org/10.17161/rrnmf.v3i3.18508","url":null,"abstract":"","PeriodicalId":309700,"journal":{"name":"RRNMF Neuromuscular Journal","volume":"2011 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2022-09-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"128157912","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 2022 Neuromuscular Study Group 2022年神经肌肉研究组简介
RRNMF Neuromuscular Journal Pub Date : 2022-09-26 DOI: 10.17161/rrnmf.v3i3.18526
R. Barohn
{"title":"Introduction to the 2022 Neuromuscular Study Group","authors":"R. Barohn","doi":"10.17161/rrnmf.v3i3.18526","DOIUrl":"https://doi.org/10.17161/rrnmf.v3i3.18526","url":null,"abstract":"","PeriodicalId":309700,"journal":{"name":"RRNMF Neuromuscular Journal","volume":"1 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2022-09-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"130001098","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
Bike and Biopsy to the Diagnosis 自行车和活检的诊断
RRNMF Neuromuscular Journal Pub Date : 2022-09-26 DOI: 10.17161/rrnmf.v3i3.17959
Avneet Hans, Salman F Bhai, M. Dimachkie
{"title":"Bike and Biopsy to the Diagnosis","authors":"Avneet Hans, Salman F Bhai, M. Dimachkie","doi":"10.17161/rrnmf.v3i3.17959","DOIUrl":"https://doi.org/10.17161/rrnmf.v3i3.17959","url":null,"abstract":"","PeriodicalId":309700,"journal":{"name":"RRNMF Neuromuscular Journal","volume":"8 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2022-09-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"122133563","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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