Pub Date : 2023-06-19DOI: 10.17161/rrnmf.v4i2.19563
Joshua Freeman
{"title":"Access to Healthcare: More primary care and no financial barriers for anyone","authors":"Joshua Freeman","doi":"10.17161/rrnmf.v4i2.19563","DOIUrl":"https://doi.org/10.17161/rrnmf.v4i2.19563","url":null,"abstract":"","PeriodicalId":309700,"journal":{"name":"RRNMF Neuromuscular Journal","volume":"1 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2023-06-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"128521043","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 : 2023-06-19DOI: 10.17161/rrnmf.v4i2.19513
A. Lizarraga, Salman F Bhai, G. Wolfe, L. Herbelin, S. Nations, Morgan McCreary, D. Saperstein, R. Barohn
Background: Quantitative sensory testing (QST) is a subjective but reliable and quantifiable method to detect patient thresholds to different sensory stimuli. QST is used to measure small- and large-fiber nerve function and can be used in conjunction with other diagnostic modalities in the evaluation of peripheral neuropathy (PN). The utility of QST to distinguish among different types of PN, however, has not been explored. The objective of the study was to evaluate if different patterns of QST abnormalities could distinguish between PN types. Methods: This single-center retrospective cohort study evaluated the frequency of QST abnormalities to vibratory, cold and heat detection thresholds in a large population of PN cases evaluated at the University of Texas Southwestern Medical Center peripheral neuropathy clinic between 1995-2000. PN was categorized by etiology. Results: A total of 559 QST studies were performed in this study. The average age of patients (n=557) was 60 years with a male-to-female ratio of 1:1. The most common diagnosis was cryptogenic sensory polyneuropathy (CSPN, n=294), followed by Charcot–Marie–Tooth disease (n=84)). Meta-regression of vibration and cold indicate that the expected proportion of abnormal responses is less for the vibration test (p = 0.0002), relative to the cold test. However, no differences were observed between diagnoses. Conclusions: Though abnormal QST thresholds were seen in most patients with PN, patterns of QST abnormalities do not distinguish between different types of PN. The routine clinical utility of QST is likely limited.
背景:定量感觉测试(QST)是一种主观但可靠且可量化的方法，用于检测患者对不同感觉刺激的阈值。QST用于测量小纤维和大纤维神经功能，并可与周围神经病变(PN)的其他诊断方式结合使用。然而，QST区分不同类型PN的效用尚未得到探讨。该研究的目的是评估不同类型的QST异常是否可以区分PN类型。方法:这项单中心回顾性队列研究评估了1995-2000年间在德克萨斯大学西南医学中心周围神经病变诊所评估的大量PN病例中，QST异常到振动、冷和热检测阈值的频率。PN按病因分类。结果:本研究共进行了559项QST研究。患者平均年龄(n=557)为60岁，男女比例为1:1。最常见的诊断是隐源性感觉多神经病变(CSPN, n=294)，其次是charcott - marie - tooth病(n=84)。振动和冷态的元回归表明，相对于冷态试验，振动试验的预期异常响应比例更小(p = 0.0002)。然而，在诊断之间没有观察到差异。结论:虽然大多数PN患者的QST阈值异常，但QST异常模式并不能区分不同类型的PN。QST的常规临床应用可能是有限的。
{"title":"Quantitative sensory testing in a large cohort of neuropathy patients","authors":"A. Lizarraga, Salman F Bhai, G. Wolfe, L. Herbelin, S. Nations, Morgan McCreary, D. Saperstein, R. Barohn","doi":"10.17161/rrnmf.v4i2.19513","DOIUrl":"https://doi.org/10.17161/rrnmf.v4i2.19513","url":null,"abstract":"Background: \u0000Quantitative sensory testing (QST) is a subjective but reliable and quantifiable method to detect patient thresholds to different sensory stimuli. QST is used to measure small- and large-fiber nerve function and can be used in conjunction with other diagnostic modalities in the evaluation of peripheral neuropathy (PN). The utility of QST to distinguish among different types of PN, however, has not been explored. The objective of the study was to evaluate if different patterns of QST abnormalities could distinguish between PN types. \u0000Methods: \u0000This single-center retrospective cohort study evaluated the frequency of QST abnormalities to vibratory, cold and heat detection thresholds in a large population of PN cases evaluated at the University of Texas Southwestern Medical Center peripheral neuropathy clinic between 1995-2000. PN was categorized by etiology. \u0000Results: \u0000A total of 559 QST studies were performed in this study. The average age of patients (n=557) was 60 years with a male-to-female ratio of 1:1. The most common diagnosis was cryptogenic sensory polyneuropathy (CSPN, n=294), followed by Charcot–Marie–Tooth disease (n=84)). Meta-regression of vibration and cold indicate that the expected proportion of abnormal responses is less for the vibration test (p = 0.0002), relative to the cold test. However, no differences were observed between diagnoses. \u0000Conclusions: \u0000Though abnormal QST thresholds were seen in most patients with PN, patterns of QST abnormalities do not distinguish between different types of PN. The routine clinical utility of QST is likely limited.","PeriodicalId":309700,"journal":{"name":"RRNMF Neuromuscular Journal","volume":"55 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2023-06-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"124921689","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 : 2023-06-19DOI: 10.17161/rrnmf.v4i2.19959
E. Rowe, Vernon D. Rowe
{"title":"Survival of the Fittest","authors":"E. Rowe, Vernon D. Rowe","doi":"10.17161/rrnmf.v4i2.19959","DOIUrl":"https://doi.org/10.17161/rrnmf.v4i2.19959","url":null,"abstract":"","PeriodicalId":309700,"journal":{"name":"RRNMF Neuromuscular Journal","volume":"29 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2023-06-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"133649727","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 : 2023-06-19DOI: 10.17161/rrnmf.v4i2.18588
J. Elliott
Congenital myasthenic syndromes (CMS) are a relatively rare cause of fatigable muscle weakness often with significant ocular, bulbar and respiratory impairment1. Mutations in the gene encoding muscle specific tyrosine kinase (MuSK) can lead to abnormal endplate and acetylcholine receptor functioning and cause an autosomal recessive post-synaptic CMS (CMS9). Only 23 patients with CMS9 have been characterized in the literature since the initial description in 20042. Here, we report a newly diagnosed case of CMS9 in a 23-year-old female who harbored a novel c.296G>T (Cys99Phe) mutation in the MUSK gene, thereby expanding the phenotypic/genotypic characterization of this rare disorder.
{"title":"A novel MUSK mutation in a patient with CMS9","authors":"J. Elliott","doi":"10.17161/rrnmf.v4i2.18588","DOIUrl":"https://doi.org/10.17161/rrnmf.v4i2.18588","url":null,"abstract":"Congenital myasthenic syndromes (CMS) are a relatively rare cause of fatigable muscle weakness often with significant ocular, bulbar and respiratory impairment1. Mutations in the gene encoding muscle specific tyrosine kinase (MuSK) can lead to abnormal endplate and acetylcholine receptor functioning and cause an autosomal recessive post-synaptic CMS (CMS9). Only 23 patients with CMS9 have been characterized in the literature since the initial description in 20042. Here, we report a newly diagnosed case of CMS9 in a 23-year-old female who harbored a novel c.296G>T (Cys99Phe) mutation in the MUSK gene, thereby expanding the phenotypic/genotypic characterization of this rare disorder.","PeriodicalId":309700,"journal":{"name":"RRNMF Neuromuscular Journal","volume":"255 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2023-06-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"116013936","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 : 2023-06-19DOI: 10.17161/rrnmf.v4i2.19854
Michael Abraham
{"title":"Under the Watchful Eye of the Knife","authors":"Michael Abraham","doi":"10.17161/rrnmf.v4i2.19854","DOIUrl":"https://doi.org/10.17161/rrnmf.v4i2.19854","url":null,"abstract":"","PeriodicalId":309700,"journal":{"name":"RRNMF Neuromuscular Journal","volume":"205 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2023-06-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"123255215","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 : 2023-02-07DOI: 10.17161/rrnmf.v3i4.16214
N. Katyal, Brian Blankenship, N. Narula, Eric A Grisham, R. Govindarajan
Background: Current treatments for myasthenia gravis, including immunomodulatory therapies, are associated with significant comorbid events. Method: Retrospective chart review of all adults diagnosed with generalized myasthenia gravis in our clinic over 5 years to evaluate potential associations between treatment regimens and emergent comorbid events according to system organ class. Comorbid events were categorized by affected system organ class as endocrine, neuropsychiatric, musculoskeletal, gastrointestinal, pulmonary, cardiovascular, urologic, infectious, and hematologic. MG treatment regimens at the latest available date during the 1-year follow-up were categorized by corticosteroid use and further stratified by medication class and combination therapy. Result: A total of 68 patients were included in the analysis (corticosteroid group, n = 43; non-corticosteroid group, n = 25). We found no significant differences in the frequencies of comorbid events between patients whose regimens included corticosteroids and patients with corticosteroid-free regimens. Patients who received pyridostigmine, high-dose corticosteroids, and corticosteroid-sparing agents in combination experienced higher incidences of emergent endocrine and neuropsychiatric events than those who received other corticosteroid-containing treatments. Conclusion: Polypharmacy that included high-dose corticosteroids was associated with a greater incidence of new endocrine and neuropsychiatric comorbid events within 1 year of diagnosis
{"title":"Emergent Comorbid Events in First Year of Immunomodulatory Treatment in Adults With Generalized Myasthenia Gravis treated in a Neurology Clinic: A Retrospective Review","authors":"N. Katyal, Brian Blankenship, N. Narula, Eric A Grisham, R. Govindarajan","doi":"10.17161/rrnmf.v3i4.16214","DOIUrl":"https://doi.org/10.17161/rrnmf.v3i4.16214","url":null,"abstract":"Background: Current treatments for myasthenia gravis, including immunomodulatory therapies, are associated with significant comorbid events. \u0000Method: Retrospective chart review of all adults diagnosed with generalized myasthenia gravis in our clinic over 5 years to evaluate potential associations between treatment regimens and emergent comorbid events according to system organ class. Comorbid events were categorized by affected system organ class as endocrine, neuropsychiatric, musculoskeletal, gastrointestinal, pulmonary, cardiovascular, urologic, infectious, and hematologic. MG treatment regimens at the latest available date during the 1-year follow-up were categorized by corticosteroid use and further stratified by medication class and combination therapy. \u0000Result: A total of 68 patients were included in the analysis (corticosteroid group, n = 43; non-corticosteroid group, n = 25). We found no significant differences in the frequencies of comorbid events between patients whose regimens included corticosteroids and patients with corticosteroid-free regimens. Patients who received pyridostigmine, high-dose corticosteroids, and corticosteroid-sparing agents in combination experienced higher incidences of emergent endocrine and neuropsychiatric events than those who received other corticosteroid-containing treatments. \u0000Conclusion: Polypharmacy that included high-dose corticosteroids was associated with a greater incidence of new endocrine and neuropsychiatric comorbid events within 1 year of diagnosis","PeriodicalId":309700,"journal":{"name":"RRNMF Neuromuscular Journal","volume":"19 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":"133963327","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 : 2023-02-07DOI: 10.17161/rrnmf.v3i4.18548
Joshua Freeman
{"title":"FDA should protect the American people, and Pharma should pay!","authors":"Joshua Freeman","doi":"10.17161/rrnmf.v3i4.18548","DOIUrl":"https://doi.org/10.17161/rrnmf.v3i4.18548","url":null,"abstract":"","PeriodicalId":309700,"journal":{"name":"RRNMF Neuromuscular Journal","volume":"64 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":"126284082","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 : 2023-02-07DOI: 10.17161/rrnmf.v3i4.18080
N. Al-Bustani, Z. Hussain
{"title":"Steroid Responsive Acute Inflammatory Demyelinating Polyneuropathy Induced by an Immune Check Point Inhibitor","authors":"N. Al-Bustani, Z. Hussain","doi":"10.17161/rrnmf.v3i4.18080","DOIUrl":"https://doi.org/10.17161/rrnmf.v3i4.18080","url":null,"abstract":"","PeriodicalId":309700,"journal":{"name":"RRNMF Neuromuscular Journal","volume":"263 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":"129064177","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 : 2023-02-07DOI: 10.17161/rrnmf.v4i1.18415
Yingkai Li, Y. Harada, Marjan Cobbaert, V. Juel, L. Hobson‐Webb, S. Raja, N. González, J. Guptill
Introduction We previously conducted a survey study in April 2020 at the beginning of the SARS-CoV-2 (COVID-19) pandemic to understand how it affected patients with myasthenia gravis (MG). Since then, significant advances have occurred in the following areas: knowledge about the SARS-CoV-2 virus, infection risk mitigation, patient management, risks for MG patients, and a global vaccination program. We conducted a follow-up survey in February 2021 to assess how these advances impacted the care and perception of MG patients. Methods We conducted a prospective online survey study of MG patients at a large academic practice in the Duke Health System. Results Seventy-eight patients participated in the survey including 55 from previous survey and 23 newly identified patients. The top reported change in the interaction with healthcare providers was an increase in telemedicine visits (74%). The median satisfaction score (0-100 scale) for telemedicine visits was 74. Ninety-six percent of survey participants expressed concern about pandemic and nearly half of participants showed anxiety based on Generalized Anxiety Disorder-7 score. The top 3 concerns related to COVID-19 were getting hospitalized (62%), exacerbation (62%) and death (53%). Discussion Although the results of follow-up survey were overall similar to the previous study, most of patients switched from in-person clinic visits to telemedicines. The overwhelmingly large portion of patients continue to have concern and anxiety for pandemic but the patients with severe symptoms have higher anxiety scores. Conclusion This follow-up survey demonstrated the adjustment of MG patients to new methods of communication, significant psychological impact of COVID-19 on them and their good healthcare literacy.
{"title":"Knowledge and perceptions of the COVID-19 pandemic among patients with myasthenia gravis: follow up survey","authors":"Yingkai Li, Y. Harada, Marjan Cobbaert, V. Juel, L. Hobson‐Webb, S. Raja, N. González, J. Guptill","doi":"10.17161/rrnmf.v4i1.18415","DOIUrl":"https://doi.org/10.17161/rrnmf.v4i1.18415","url":null,"abstract":"Introduction \u0000We previously conducted a survey study in April 2020 at the beginning of the SARS-CoV-2 (COVID-19) pandemic to understand how it affected patients with myasthenia gravis (MG). Since then, significant advances have occurred in the following areas: knowledge about the SARS-CoV-2 virus, infection risk mitigation, patient management, risks for MG patients, and a global vaccination program. We conducted a follow-up survey in February 2021 to assess how these advances impacted the care and perception of MG patients. \u0000Methods \u0000We conducted a prospective online survey study of MG patients at a large academic practice in the Duke Health System. \u0000Results \u0000Seventy-eight patients participated in the survey including 55 from previous survey and 23 newly identified patients. The top reported change in the interaction with healthcare providers was an increase in telemedicine visits (74%). The median satisfaction score (0-100 scale) for telemedicine visits was 74. Ninety-six percent of survey participants expressed concern about pandemic and nearly half of participants showed anxiety based on Generalized Anxiety Disorder-7 score. The top 3 concerns related to COVID-19 were getting hospitalized (62%), exacerbation (62%) and death (53%). \u0000Discussion \u0000Although the results of follow-up survey were overall similar to the previous study, most of patients switched from in-person clinic visits to telemedicines. The overwhelmingly large portion of patients continue to have concern and anxiety for pandemic but the patients with severe symptoms have higher anxiety scores. \u0000Conclusion \u0000This follow-up survey demonstrated the adjustment of MG patients to new methods of communication, significant psychological impact of COVID-19 on them and their good healthcare literacy. ","PeriodicalId":309700,"journal":{"name":"RRNMF Neuromuscular Journal","volume":"39 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":"128163638","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 : 2023-02-07DOI: 10.17161/rrnmf.v3i4.18087
A. Reynolds, A. Lin, Leo H. Wang
We report a case series of 5 Latino patients with limb-girdle pattern weakness, four patients are sisters, with one patient unrelated. Repetitive nerve stimulation showed a significant decrement in all cases. Targeted genetic testing for congenital myasthenic syndromes demonstrated a known DOK7 pathogenic mutation in each case, and in all five cases also revealed a novel DOK7 missense mutation in exon 7 with c.94G>A; providing strong evidence this mutation is pathogenic. DOK7-related congenital myasthenic syndrome often lacks oculobulbar involvement, and may present with limb-girdle weakness, mimicking limb-girdle muscular dystrophy.
{"title":"A novel DOK7 mutation causing limb-girdle congenital myasthenic syndrome","authors":"A. Reynolds, A. Lin, Leo H. Wang","doi":"10.17161/rrnmf.v3i4.18087","DOIUrl":"https://doi.org/10.17161/rrnmf.v3i4.18087","url":null,"abstract":"We report a case series of 5 Latino patients with limb-girdle pattern weakness, four patients are sisters, with one patient unrelated. Repetitive nerve stimulation showed a significant decrement in all cases. Targeted genetic testing for congenital myasthenic syndromes demonstrated a known DOK7 pathogenic mutation in each case, and in all five cases also revealed a novel DOK7 missense mutation in exon 7 with c.94G>A; providing strong evidence this mutation is pathogenic. DOK7-related congenital myasthenic syndrome often lacks oculobulbar involvement, and may present with limb-girdle weakness, mimicking limb-girdle muscular dystrophy.","PeriodicalId":309700,"journal":{"name":"RRNMF Neuromuscular Journal","volume":"33 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":"115926469","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}
京公网安备 11010802042870号
京ICP备2023020795号-1
扫码关注我们
求助内容：
应助结果提醒方式：