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Journal of Clinical Neuromuscular Disease最新文献

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"Spokes of Wheel" in Muscle Biopsy. 肌肉活检中的“轮辐”。
Journal of Clinical Neuromuscular Disease Pub Date : 2022-03-01 DOI: 10.1097/CND.0000000000000373
Luisa F Angel Buitrago, Hart G W Lidov, Partha S Ghosh
{"title":"\"Spokes of Wheel\" in Muscle Biopsy.","authors":"Luisa F Angel Buitrago, Hart G W Lidov, Partha S Ghosh","doi":"10.1097/CND.0000000000000373","DOIUrl":"https://doi.org/10.1097/CND.0000000000000373","url":null,"abstract":"","PeriodicalId":39645,"journal":{"name":"Journal of Clinical Neuromuscular Disease","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2022-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"39940783","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
Symmetric Distal Upper-Limb Muscle Involvement in a Patient With Dermatomyositis. 皮肌炎患者对称性上肢远端肌肉受累。
Journal of Clinical Neuromuscular Disease Pub Date : 2022-03-01 DOI: 10.1097/CND.0000000000000346
Sofia G Rodrigues, Miguel O Santos
{"title":"Symmetric Distal Upper-Limb Muscle Involvement in a Patient With Dermatomyositis.","authors":"Sofia G Rodrigues, Miguel O Santos","doi":"10.1097/CND.0000000000000346","DOIUrl":"https://doi.org/10.1097/CND.0000000000000346","url":null,"abstract":"","PeriodicalId":39645,"journal":{"name":"Journal of Clinical Neuromuscular Disease","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2022-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"39940786","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
Case Study of an Elderly Patient With New Onset Weakness. 老年患者新发虚弱病例分析。
Journal of Clinical Neuromuscular Disease Pub Date : 2022-03-01 DOI: 10.1097/CND.0000000000000381
Igal Mirman, Tulio Bertorini
{"title":"Case Study of an Elderly Patient With New Onset Weakness.","authors":"Igal Mirman,&nbsp;Tulio Bertorini","doi":"10.1097/CND.0000000000000381","DOIUrl":"https://doi.org/10.1097/CND.0000000000000381","url":null,"abstract":"<p><strong>Abstract: </strong>We present a patient presented with new onset progressive proximal weakness. On examination noted to have proximal weakness on upper and lower limbs, with preserved reflexes, without sensory involvement. Blood work revealed to have elevated creatine kinase. On electromyography testing shows myopathic features and also noted to have myotonic discharges. Muscle biopsy was obtained next which showed many vacuolization, marked increase in all fat content noted. These findings led us to checking carnitine levels which were noted to be significantly reduced with elevated carnitine palmitoyltransferase levels. These findings highly suggestive of systemic carnitine deficiency. Secondary causes of systemic Carnitine deficiency not identified in this patient and presumed to have primary systemic carnitine deficiency. Patient improved on oral supplementation of L- Carnitine.</p>","PeriodicalId":39645,"journal":{"name":"Journal of Clinical Neuromuscular Disease","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2022-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"39940781","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
Simultaneous Immune Attack to Multiple Roots and the Spinal Cord. 同时免疫攻击多根和脊髓。
Journal of Clinical Neuromuscular Disease Pub Date : 2022-03-01 DOI: 10.1097/CND.0000000000000364
Elisabeth Chroni, Dimitra Veltsista, Petros Zampakis
{"title":"Simultaneous Immune Attack to Multiple Roots and the Spinal Cord.","authors":"Elisabeth Chroni,&nbsp;Dimitra Veltsista,&nbsp;Petros Zampakis","doi":"10.1097/CND.0000000000000364","DOIUrl":"https://doi.org/10.1097/CND.0000000000000364","url":null,"abstract":"<p><strong>Abstract: </strong>A patient with concurrent occurrence of polyradiculopathy and myelopathy is presented. Diagnostic investigation and clinical outcome supported the diagnosis of chronic inflammatory demyelinating polyradiculoneuropathy variant.</p>","PeriodicalId":39645,"journal":{"name":"Journal of Clinical Neuromuscular Disease","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2022-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"39940782","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
Minimal Manifestations With Eculizumab Therapy in a Patient With Refractory Generalized Seropositive Myasthenia Gravis. 依曲单抗治疗难治性全身性血清阳性重症肌无力患者的最小表现
Journal of Clinical Neuromuscular Disease Pub Date : 2022-03-01 DOI: 10.1097/CND.0000000000000388
Aisha Abdulrazaq, Ross Smith, Lakshmi Prasanna Digala, Raghav Govindarajan
{"title":"Minimal Manifestations With Eculizumab Therapy in a Patient With Refractory Generalized Seropositive Myasthenia Gravis.","authors":"Aisha Abdulrazaq,&nbsp;Ross Smith,&nbsp;Lakshmi Prasanna Digala,&nbsp;Raghav Govindarajan","doi":"10.1097/CND.0000000000000388","DOIUrl":"https://doi.org/10.1097/CND.0000000000000388","url":null,"abstract":"","PeriodicalId":39645,"journal":{"name":"Journal of Clinical Neuromuscular Disease","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2022-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"39940791","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
Brentuximab-Induced Sensorimotor Polyneuropathy With Acquired Demyelinating Features Resembling Chronic Inflammatory Demyelinating Polyneuropathy. brentuximumab诱导的具有获得性脱髓鞘特征的感觉运动多发性神经病，类似慢性炎症性脱髓鞘性多发性神经病。
Journal of Clinical Neuromuscular Disease Pub Date : 2022-03-01 DOI: 10.1097/CND.0000000000000352
Adeel S Zubair, Melissa Rethana, Benison Keung
{"title":"Brentuximab-Induced Sensorimotor Polyneuropathy With Acquired Demyelinating Features Resembling Chronic Inflammatory Demyelinating Polyneuropathy.","authors":"Adeel S Zubair,&nbsp;Melissa Rethana,&nbsp;Benison Keung","doi":"10.1097/CND.0000000000000352","DOIUrl":"https://doi.org/10.1097/CND.0000000000000352","url":null,"abstract":"","PeriodicalId":39645,"journal":{"name":"Journal of Clinical Neuromuscular Disease","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2022-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"39940788","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
Neck Flexion Strength as a Predictor of Need for Intubation in Guillain-Barre Syndrome. 颈部屈曲强度作为格林-巴利综合征插管需求的预测因子。
Journal of Clinical Neuromuscular Disease Pub Date : 2022-03-01 DOI: 10.1097/CND.0000000000000365
Lisa M Arnold, Michael K Hehir, Rup Tandan, Noah Kolb, Waqar Waheed
{"title":"Neck Flexion Strength as a Predictor of Need for Intubation in Guillain-Barre Syndrome.","authors":"Lisa M Arnold,&nbsp;Michael K Hehir,&nbsp;Rup Tandan,&nbsp;Noah Kolb,&nbsp;Waqar Waheed","doi":"10.1097/CND.0000000000000365","DOIUrl":"https://doi.org/10.1097/CND.0000000000000365","url":null,"abstract":"<p><strong>Objectives: </strong>Respiratory failure in Guillain-Barre syndrome (GBS) is common. Forced vital capacity (FVC) is the gold standard for monitoring respiratory muscle strength in GBS. In some clinical situations, FVC testing could be delayed or unavailable, thus there is a need for accurate, fast, and device-free bedside respiratory evaluation.</p><p><strong>Methods: </strong>We examined neck flexion strength in 23 GBS patients as a possible predictor of the need for subsequent intubation and as a predictor of FVC change.</p><p><strong>Results: </strong>Intubation was required by 100% of patients with neck flexion strength of Medical Research Council grade ≤3. A correlation between neck flexion strength and FVC could not be determined.</p><p><strong>Conclusions: </strong>Significant weakness of neck flexion (Medical Research Council grade ≤3) at the time of admission correlates with poor respiratory status as measured by the need for intubation in patients with GBS.</p>","PeriodicalId":39645,"journal":{"name":"Journal of Clinical Neuromuscular Disease","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2022-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"39638354","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: 3
Progressive Multiple Mononeuropathy in a Patient With Familial Transthyretin Amyloidosis After Liver Transplantation. 家族性甲状腺转蛋白淀粉样变患者肝移植后进行性多发性单神经病变。
Journal of Clinical Neuromuscular Disease Pub Date : 2022-03-01 DOI: 10.1097/CND.0000000000000368
Kaitlin Seibert, Richard Wlodarski, Nitasha Sarswat, Daniel Appelbaum, Naoum P Issa, Betty Soliven, Kourosh Rezania
{"title":"Progressive Multiple Mononeuropathy in a Patient With Familial Transthyretin Amyloidosis After Liver Transplantation.","authors":"Kaitlin Seibert,&nbsp;Richard Wlodarski,&nbsp;Nitasha Sarswat,&nbsp;Daniel Appelbaum,&nbsp;Naoum P Issa,&nbsp;Betty Soliven,&nbsp;Kourosh Rezania","doi":"10.1097/CND.0000000000000368","DOIUrl":"https://doi.org/10.1097/CND.0000000000000368","url":null,"abstract":"<p><strong>Abstract: </strong>Valine 122 isoleucine (V122I) is the most common mutation associated with familial transthyretin-related amyloidosis (fATTR) in the metropolitan United States. V122I-related fATTR usually presents with cardiomyopathy. When polyneuropathy is encountered, it is usually mild, distal, and axonal in nature. Although liver transplantation improves survival for fATTR neuropathy patients, neuropathy may progress post liver transplantation because of the deposition of wild-type transthyretin. We report a patient with homozygous V122I mutation who presented with asymmetrical, upper limb predominant neuropathy rather early in his disease course, which progressed for a period of 5 years after liver transplantation before stabilization with the initiation of patisiran.</p>","PeriodicalId":39645,"journal":{"name":"Journal of Clinical Neuromuscular Disease","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2022-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"39638357","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
Five Cases of Charcot-Marie-Tooth Disease With Positive COVID-19 Infection Reported Using Cerner Real-World Data™. 使用Cerner真实世界数据™报告5例COVID-19感染阳性的犬牙病
Journal of Clinical Neuromuscular Disease Pub Date : 2022-03-01 DOI: 10.1097/CND.0000000000000362
Lakshmi P Digala, Shivika Prasanna, Praveen Rao, Adnan I Qureshi, Raghav Govindarajan
{"title":"Five Cases of Charcot-Marie-Tooth Disease With Positive COVID-19 Infection Reported Using Cerner Real-World Data™.","authors":"Lakshmi P Digala,&nbsp;Shivika Prasanna,&nbsp;Praveen Rao,&nbsp;Adnan I Qureshi,&nbsp;Raghav Govindarajan","doi":"10.1097/CND.0000000000000362","DOIUrl":"https://doi.org/10.1097/CND.0000000000000362","url":null,"abstract":"","PeriodicalId":39645,"journal":{"name":"Journal of Clinical Neuromuscular Disease","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2022-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"39940790","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: 1
Multiple Cranial Nerve Enhancement in Guillain-Barre Syndrome With Clinicoradiological Dissociation. 伴有临床放射学分离的格林-巴利综合征多发性颅神经增强。
Journal of Clinical Neuromuscular Disease Pub Date : 2022-03-01 DOI: 10.1097/CND.0000000000000366
Praveen Kesav, Seby John, Mohammad A Dogar, Khalid Al-Sharif, Zulfiqar Hussain
{"title":"Multiple Cranial Nerve Enhancement in Guillain-Barre Syndrome With Clinicoradiological Dissociation.","authors":"Praveen Kesav,&nbsp;Seby John,&nbsp;Mohammad A Dogar,&nbsp;Khalid Al-Sharif,&nbsp;Zulfiqar Hussain","doi":"10.1097/CND.0000000000000366","DOIUrl":"https://doi.org/10.1097/CND.0000000000000366","url":null,"abstract":"<p><strong>Abstract: </strong>Guillain-Barre Syndrome (GBS) is an acute inflammatory polyradiculoneuropathy which can lead to rapid neuromuscular respiratory failure, with an estimated annual incidence of 1-2 per 100,000 person-years. Even though cranial nerve involvement is known to occur in GBS, radiological correlation on neuroimaging studies are less frequently reported in pediatric population. We hereby report the case of a 14-year-old boy with acute motor axonal neuropathy variant of GBS, who had extensive contrast enhancement of multiple cranial nerves on Magnetic Resonance Imaging brain, associated with clinicoradiological dissociation on presentation.</p>","PeriodicalId":39645,"journal":{"name":"Journal of Clinical Neuromuscular Disease","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2022-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"39638356","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: 1
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