Journal of Clinical Neuromuscular Disease最新文献_第8页

Two Cases of Periodic Paralysis Associated With MCM3AP Variants. 2例与MCM3AP变异相关的周期性瘫痪。

Journal of Clinical Neuromuscular Disease Pub Date : 2023-09-01 DOI: 10.1097/CND.0000000000000454

Tatsuya Oishi, Jennifer Pagano, Cody Sellers, Nivedita U Jerath

{"title":"Two Cases of Periodic Paralysis Associated With MCM3AP Variants.","authors":"Tatsuya Oishi, Jennifer Pagano, Cody Sellers, Nivedita U Jerath","doi":"10.1097/CND.0000000000000454","DOIUrl":"10.1097/CND.0000000000000454","url":null,"abstract":"Objectives: Periodic paralysis is a rare genetic condition characterized by episodes of neuromuscular weakness, often provoked by electrolyte abnormalities, physiologic stress, physical exertion, and diet. In addition to mutations in genes coding for skeletal muscle ion channels, in 2019, Gustavasson et al discovered that the MCM3AP gene could be responsible for periodic paralysis. In this study, we present 2 individuals with clinical episodes of periodic paralysis who have variants in the MCM3AP gene.Methods: Two unrelated probands were independently evaluated with clinical, genetic, and electrodiagnostic testing.Results: Proband 1 is a 46-year-old man who presented with decades of ongoing episodic weakness and fatigue, clinically diagnosed with periodic paralysis and supported by electrodiagnostic studies. Proband 2 is a 34-year-old woman with a history of episodic paralysis since childhood. Genetic testing in both individuals revealed potentially pathogenic variants in the MCM3AP gene.Conclusions: Periodic paralysis is a condition that significantly affects the lives of those diagnosed. The results illustrate that MCM3AP gene variants can been associated with a clinical and electrodiagnostic presentation of periodic paralysis. Additional future research should focus on clarifying any relationship between these genetic variants and the disease, as well as other possible genetic causes.","PeriodicalId":39645,"journal":{"name":"Journal of Clinical Neuromuscular Disease","volume":"25 1","pages":"36-41"},"PeriodicalIF":0.0,"publicationDate":"2023-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10121695","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

Leg MRI as a Complementary Diagnostic Tool in the Assessment of Foot Drop. 下肢MRI作为评估足下垂的辅助诊断工具。

Journal of Clinical Neuromuscular Disease Pub Date : 2023-09-01 DOI: 10.1097/CND.0000000000000433

Tara Torabi, Adeel S Zubair, Richard J Nowak, Bertrand Tseng, Andrew Haims, Bhaskar Roy

引用次数: 0

Cytokines Single Nucleotide Polymorphisms (SNPs) Association With Myasthenia Gravis (MG) In Algerian Patients: A Case-Control Study On A Small Group. 细胞因子单核苷酸多态性（snp）与阿尔及利亚重症肌无力（MG）患者的关联：一个小群体的病例对照研究。

Journal of Clinical Neuromuscular Disease Pub Date : 2023-09-01 DOI: 10.1097/CND.0000000000000446

Mohamed Nadji Bouchtout, Fethi Meçabih, Chahrazad Boukadir, Elias Attal, Smail Daoudi, Halla Benkortbi, Chafia Touil-Boukoffa, Rachida Raache, Nabila Attal

{"title":"Cytokines Single Nucleotide Polymorphisms (SNPs) Association With Myasthenia Gravis (MG) In Algerian Patients: A Case-Control Study On A Small Group.","authors":"Mohamed Nadji Bouchtout, Fethi Meçabih, Chahrazad Boukadir, Elias Attal, Smail Daoudi, Halla Benkortbi, Chafia Touil-Boukoffa, Rachida Raache, Nabila Attal","doi":"10.1097/CND.0000000000000446","DOIUrl":"10.1097/CND.0000000000000446","url":null,"abstract":"Abstract: Myasthenia gravis (MG) is an autoimmune disease of multifactorial etiology in which genetic factors and cytokines seem to play an important role. The aim of this study was to investigate potential associations of cytokines single nucleotide polymorphisms (SNPs) and MG in Algerian patients. We performed a case-control study that included 27 patients and 74 healthy subjects. Cytokines SNPs genotyping was performed by the polymerase chain reaction sequence-specific primers (PCR-SSP) method. Our results showed that the TNF-α -308G/A (P < 0.005) and TGF-β1 +869T/T (P < 0.05) genotypes were more frequent among patients with MG compared with healthy individuals, whereas TNF-α -308G/G (P < 0.0001), TGF-β1 +869T/C (P < 0.05), and IFN-γ +874A/A (P < 0.05) were less frequent. Our results also showed that IL-10 and IL-6 SNPs did not show any significant difference in distribution between MG patients and healthy individuals. Our observations support the hypothesis that implicates genetic variants of certain cytokines in MG. However, ours results should be replicated with a larger sample size. In addition, the precise underlying processes remain to be clarified.Highlights: TNF-α -308G/A and TGF-β1 +869T/C genotypes predispose to MG.IFN-γ +874A/A genotype protects against MG.IL-6 -174C/G SNP is not associated with MG.","PeriodicalId":39645,"journal":{"name":"Journal of Clinical Neuromuscular Disease","volume":"25 1","pages":"18-26"},"PeriodicalIF":0.0,"publicationDate":"2023-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10121694","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

Mononeuropathy Multiplex After Severe SARS-CoV-2 Infection: A Case Series and Literature Review. 严重SARS-CoV-2感染后多发性单神经病变：病例系列和文献综述

Journal of Clinical Neuromuscular Disease Pub Date : 2023-09-01 DOI: 10.1097/CND.0000000000000450

Alicia E Dupre, Michaël C C Slama

{"title":"Mononeuropathy Multiplex After Severe SARS-CoV-2 Infection: A Case Series and Literature Review.","authors":"Alicia E Dupre, Michaël C C Slama","doi":"10.1097/CND.0000000000000450","DOIUrl":"10.1097/CND.0000000000000450","url":null,"abstract":"Introduction: Peripheral nerve injuries are being increasingly recognized in patients recovering from severe SARS-CoV-2 infections. Axonal neuropathies can occur, leading to lasting and disabling deficits.Case reports: We present the cases of 3 patients who developed weakness and sensory symptoms after severe SARS-CoV-2 pneumonia. The clinical deficits revealed various patterns of injury including a mononeuropathy multiplex (MNM) in the first patient, a brachial plexopathy with superimposed MNM in the second patient, and a mononeuropathy superimposed on a polyneuropathy in the third patient. Electrodiagnostic studies revealed axonopathies. The patients with MNM were left with severe disability. The third patient returned to his baseline level of functioning.Conclusions: Severe SARS-CoV-2 infections can result in disabling axonopathies. Possible explanations include ischemic nerve damage from the profound inflammatory response and traumatic nerve injuries in the ICU setting. Preventing severe disease through vaccination and antivirals may therefore help reduce neurologic morbidity.","PeriodicalId":39645,"journal":{"name":"Journal of Clinical Neuromuscular Disease","volume":"25 1","pages":"27-35"},"PeriodicalIF":0.0,"publicationDate":"2023-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10421213","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

Relevance of the Finger Wrinkle Test in Autonomic Neuropathy. 手指皱纹试验与自主神经病变的相关性。

Journal of Clinical Neuromuscular Disease Pub Date : 2023-09-01 DOI: 10.1097/CND.0000000000000445

Otto J Hernandez Fustes

引用次数: 0

Thymoma Associated With Autoimmune Encephalitis and Subsequent Myasthenia Gravis. 胸腺瘤与自身免疫性脑炎和随后的重症肌无力相关。

Journal of Clinical Neuromuscular Disease Pub Date : 2023-09-01 DOI: 10.1097/CND.0000000000000452

Syed F Ali, Bridget Nolan, Tyler D'Agostino, Kevin Clare, Theresa Henson, Mozibur Rahman, Jon Rosenberg, Jin Li, Fawaz Al-Mufti

引用次数: 0

Congenital Myasthenic Syndrome Caused by DOK7 Mutation in a Quinquagenarian Male with Calf Hypertrophy. 由DOK7突变引起的先天性肌无力综合征在一个五旬男性小腿肥大。

Journal of Clinical Neuromuscular Disease Pub Date : 2023-09-01 DOI: 10.1097/CND.0000000000000448

Saranya B Gomathy, Animesh Das, Ajay Garg, Achal Kumar Srivastava

引用次数: 0

DMD Gene and Dystrophinopathy Phenotypes Associated With Mutations: A Systematic Review for Clinicians. 与突变相关的DMD基因和营养不良表型：临床医生的系统综述。

Journal of Clinical Neuromuscular Disease Pub Date : 2023-06-01 DOI: 10.1097/CND.0000000000000436

Jennifer G Andrews, Maureen Kelly Galindo, Shiny Thomas, Katherine D Mathews, Nedra Whitehead

{"title":"DMD Gene and Dystrophinopathy Phenotypes Associated With Mutations: A Systematic Review for Clinicians.","authors":"Jennifer G Andrews, Maureen Kelly Galindo, Shiny Thomas, Katherine D Mathews, Nedra Whitehead","doi":"10.1097/CND.0000000000000436","DOIUrl":"10.1097/CND.0000000000000436","url":null,"abstract":"Abstract: The diagnosis of Duchenne and Becker muscular dystrophy (DBMD) is made by genetic testing in approximately 95% of cases. Although specific mutations can be associated with skeletal muscle phenotype, pulmonary and cardiac comorbidities (leading causes of death in Duchenne) have not been associated with Duchenne muscular dystrophy mutation type or location and vary within families. Therefore, identifying predictors for phenotype severity beyond frameshift prediction is important clinically. We performed a systematic review assessing research related to genotype-phenotype correlations in DBMD. While there are severity differences across the spectrum and within mild and severe forms of DBMD, few protective or exacerbating mutations within the dystrophin gene were reported. Except for intellectual disability, clinical test results reporting genotypic information are insufficient for clinical prediction of severity and comorbidities and the predictive validity is too low to be useful when advising families. Including expanded information coupled with proposed severity predictions in clinical genetic reports for DBMD is critical for improving anticipatory guidance.","PeriodicalId":39645,"journal":{"name":"Journal of Clinical Neuromuscular Disease","volume":"24 4","pages":"171-187"},"PeriodicalIF":0.0,"publicationDate":"2023-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10135331","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

Greater Number of Plasma Exchanges Does Not Improve Outcome in Myasthenic Crisis. 大量的血浆交换并不能改善肌无力危象的预后。

Journal of Clinical Neuromuscular Disease Pub Date : 2023-06-01 DOI: 10.1097/CND.0000000000000421

Michael Hansen, Lee Neilson, Melanie Parikh, Bashar Katirji

{"title":"Greater Number of Plasma Exchanges Does Not Improve Outcome in Myasthenic Crisis.","authors":"Michael Hansen, Lee Neilson, Melanie Parikh, Bashar Katirji","doi":"10.1097/CND.0000000000000421","DOIUrl":"10.1097/CND.0000000000000421","url":null,"abstract":"Objectives: To determine the relationship between the number of plasma exchanges and clinical outcome in patients experiencing myasthenic crisis.Methods: We retrospectively reviewed all episodes of myasthenia gravis exacerbation/crisis who received plasmapheresis in patients admitted to a single-center tertiary care referral center from July 2008 to July 2017. We performed statistical analyses to determine whether the increased number of plasma exchanges improves the primary outcome (hospital length of stay) and the secondary outcome (disposition to home, skilled nursing facility, long-term acute care hospital, or death).Results: There is neither clinically observable nor statistically significant improvement in length of stay or disposition on discharge in patients who received 6 or greater sessions of plasmapheresis.Conclusions: This study provides class IV evidence that extending the number of plasma exchanges beyond 5 does not correlate with decreased hospital length of stay or improved discharge disposition in patients experiencing myasthenic crisis.","PeriodicalId":39645,"journal":{"name":"Journal of Clinical Neuromuscular Disease","volume":"24 4","pages":"199-206"},"PeriodicalIF":0.0,"publicationDate":"2023-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9517974","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

Attitudes and Beliefs Toward Thymectomy in the Myasthenia Gravis Patient Registry. 肌无力患者登记处对胸腺切除术的态度和信念。

Journal of Clinical Neuromuscular Disease Pub Date : 2023-06-01 DOI: 10.1097/CND.0000000000000449

Ali G Hamedani, Tarrant O McPherson, Inmaculada Aban, Ikjae Lee, Mark J Kupersmith, Gil I Wolfe, Henry J Kaminski

{"title":"Attitudes and Beliefs Toward Thymectomy in the Myasthenia Gravis Patient Registry.","authors":"Ali G Hamedani, Tarrant O McPherson, Inmaculada Aban, Ikjae Lee, Mark J Kupersmith, Gil I Wolfe, Henry J Kaminski","doi":"10.1097/CND.0000000000000449","DOIUrl":"10.1097/CND.0000000000000449","url":null,"abstract":"Objectives: To evaluate patient attitudes and beliefs toward thymectomy for myasthenia gravis (MG).Methods: The Myasthenia Gravis Foundation of America administered a questionnaire to the MG Patient Registry, an ongoing longitudinal survey of adult MG patients. Questions assessed reasons for or against thymectomy and how hypothetical scenarios would have affected their decision.Results: Of 621 respondents, 190 (31%) reported a history of thymectomy. Of those who underwent thymectomy for nonthymomatous MG, 97 (51.6%) ranked symptom improvement as most important and 100 (53.2%) ranked reducing medication as least important. Among 431 nonthymectomy patients, the most frequent reason for not undergoing thymectomy was that their doctor did not discuss it (152 of 431 = 35.2%) and 235 (56.8%) said that they would have considered it more strongly if their doctor spent more time discussing it.Conclusions: Thymectomies are motivated more by symptoms than by medication, and a lack of neurologist discussion is the most common barrier to thymectomy.","PeriodicalId":39645,"journal":{"name":"Journal of Clinical Neuromuscular Disease","volume":"24 4","pages":"222-228"},"PeriodicalIF":0.0,"publicationDate":"2023-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9521464","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