Journal of Clinical Neuromuscular Disease最新文献_第3页

Plasmapheresis Versus Intravenous Immunoglobulin in Patients With Autoimmune Neuromuscular and Neuro-immunological Conditions. 血浆置换与静脉注射免疫球蛋白在自身免疫性神经肌肉和神经免疫疾病患者中的作用

Journal of Clinical Neuromuscular Disease Pub Date : 2023-09-01 DOI: 10.1097/CND.0000000000000439

Adeel S Zubair, Melissa Rethana, Anthony Ma, Lindsay S McAlpine, Ahmad Abulaban, Bailey Sheldon Munro, Huned S Patwa, Richard J Nowak, Bhaskar Roy

{"title":"Plasmapheresis Versus Intravenous Immunoglobulin in Patients With Autoimmune Neuromuscular and Neuro-immunological Conditions.","authors":"Adeel S Zubair, Melissa Rethana, Anthony Ma, Lindsay S McAlpine, Ahmad Abulaban, Bailey Sheldon Munro, Huned S Patwa, Richard J Nowak, Bhaskar Roy","doi":"10.1097/CND.0000000000000439","DOIUrl":"https://doi.org/10.1097/CND.0000000000000439","url":null,"abstract":"Objectives: Plasmapheresis (PLEX) and intravenous immunoglobulin (IVIg) are commonly used to treat autoimmune neuromuscular disorders, including myasthenia gravis, acute inflammatory demyelinating polyradiculoneuropathy, chronic inflammatory demyelinating polyradiculoneuropathy, and other autoimmune neurological disorders. The side effect profiles of these therapies vary, and concern has been raised regarding the safety of PLEX in the elderly population. In this study, we have examined the pattern of PLEX and IVIg use for autoimmune neurological disorders at a single facility and in a national database, focusing on the complications in elderly patients.Methods: We performed a retrospective chart review of adult patients at our institution receiving PLEX or IVIg for any autoimmune neuromuscular or neuro-immunological disease. Next, we analyzed the National Inpatient Sample database to confirm the trend in IVIg and PLEX use from 2012 to 2018 for a set of neuromuscular and neuro-immunological primary diagnoses.Results: IVIg was overall favored over PLEX. The adverse effects were similar among elderly patients (age ≥65 years) compared with younger patients (<65 years) in our institution, even after adequate matching of patients based on age, sex, and medical history. We examined the National Inpatient Sample dataset and noted increasingly higher frequency of IVIg use, consistent with the findings from our institution or facility.Conclusions: Both PLEX and IVIg are safe therapeutic choices in adult patients with autoimmune neuromuscular disorders and other neuro-immunological diseases and can be safely administered in the appropriate clinical setting.","PeriodicalId":39645,"journal":{"name":"Journal of Clinical Neuromuscular Disease","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2023-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10421215","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 Presentation of Tangier Disease-Expanding the Clinical Spectrum. 丹吉尔病的非典型表现——扩大临床范围。

Journal of Clinical Neuromuscular Disease Pub Date : 2023-09-01 DOI: 10.1097/CND.0000000000000453

Dipti Baskar, Seena Vengalil, Saraswati Nashi, Deepak Menon, Nandeesh Bevinahalli N, Aneesha Thomas, Mainak Bardhan, Sai Bhargava Sanka, Nisha Manjunath, Atchayaram Nalini

{"title":"Atypical Presentation of Tangier Disease-Expanding the Clinical Spectrum.","authors":"Dipti Baskar, Seena Vengalil, Saraswati Nashi, Deepak Menon, Nandeesh Bevinahalli N, Aneesha Thomas, Mainak Bardhan, Sai Bhargava Sanka, Nisha Manjunath, Atchayaram Nalini","doi":"10.1097/CND.0000000000000453","DOIUrl":"https://doi.org/10.1097/CND.0000000000000453","url":null,"abstract":"Abstract: Tangier disease is an autosomal recessive multisystem metabolic disorder with neuromuscular manifestations including peripheral neuropathy such as multifocal mononeuropathy or pseudosyringomyelia patterns. We report a novel phenotype of Tangier disease with predominant anterior horn cell involvement. A 16-year-old adolescent girl born to consanguineous parents had a 1-year history of hip girdle weakness with waddling gait and progressive atrophy of the right leg. She had orange tonsils, prominent lingual tonsils, soft skin, distal joint laxity, diffuse hypotonia with asymmetric wasting of legs, proximodistal moderate weakness in lower limbs, and tendon reflexes were hypoactive. The creatine kinase level was 70 U/L. Serum showed an abnormally low level of high- and low-density lipoprotein. Whole-exome sequencing showed a novel likely pathogenic splice site homozygous mutation c.2542+1G > A in the ABCA1 gene at intron 17. Hence, a high degree of suspicion and search for peripheral clinical markers is needed in patients with unusual anterior horn cell syndromes.","PeriodicalId":39645,"journal":{"name":"Journal of Clinical Neuromuscular Disease","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2023-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10122154","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

Juvenile Dermatomyositis Without Skin Lesions in an Antinuclear Matrix Protein 2 Antibody Seropositive Pediatric Case. 抗核基质蛋白2抗体血清阳性儿童无皮肌炎病例。

Journal of Clinical Neuromuscular Disease Pub Date : 2023-09-01 DOI: 10.1097/CND.0000000000000455

Fatma Kamoun, Sirine Laroussi, Azza Mellouli, Olfa Jallouli, Sawsan Feki, Samia Ben Sassi, Chahnez Charfi Triki

{"title":"Juvenile Dermatomyositis Without Skin Lesions in an Antinuclear Matrix Protein 2 Antibody Seropositive Pediatric Case.","authors":"Fatma Kamoun, Sirine Laroussi, Azza Mellouli, Olfa Jallouli, Sawsan Feki, Samia Ben Sassi, Chahnez Charfi Triki","doi":"10.1097/CND.0000000000000455","DOIUrl":"https://doi.org/10.1097/CND.0000000000000455","url":null,"abstract":"Abstract: We report a 5-year-old boy who presented with progressive weakness in 4 limbs and gait disorders over 7 months. No skin rash was observed on admission. A symmetrical proximodistal weakness was found. The creatine kinase level was normal with a slightly elevated lactate dehydrogenase level. Biopsy specimens showed infiltration of mononuclear cells, few necrotic fibers, and perifascicular atrophy. Screening for myositis-specific antibodies was positive for the antinuclear matrix protein 2 antibody, which is mainly associated with dermatomyositis. Symptoms improved on receiving corticosteroids. Our findings suggest that in cases where inflammatory muscle disease is suspected, antinuclear matrix protein 2 antibody analyses should be considered for precise diagnosis, even with the absence of dermatological symptoms. The case suggests consideration of juvenile dermatomyositis in children with no associated skin manifestations or elevated creatine kinase levels and highlights the importance of screening for myositis-specific antibodies in helping with the diagnosis, given the possible heterogeneity of its clinical presentations.","PeriodicalId":39645,"journal":{"name":"Journal of Clinical Neuromuscular Disease","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2023-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10122153","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

Guillain-Barré Syndrome and COVID-19 Vaccine: A Multicenter Retrospective Study of 46 Cases. 格林-巴勒综合征与COVID-19疫苗:46例多中心回顾性研究

Journal of Clinical Neuromuscular Disease Pub Date : 2023-09-01 DOI: 10.1097/CND.0000000000000437

Juan Ignacio Castiglione, José Manuel Crespo, Mariana Bendersky, Facundo Oscar Silveira, Lucila Lecchini, María Belén Luis, Francisco Caiza Zambrano, Norberto Cotti, Conrado J Simison, Florencia Aguirre, María Agustina Piedrabuena, Ricardo Nicolás Alonso, Carolina Laura Azcona, Pablo Sebastian Sosa, Evangelina Maldonado, Francisco Varela, Mariela Bettini, Roberto D Rey, Luciana León Cejas, Marcelo Rugiero, Ricardo Reisin, Fabio Barroso

{"title":"Guillain-Barré Syndrome and COVID-19 Vaccine: A Multicenter Retrospective Study of 46 Cases.","authors":"Juan Ignacio Castiglione, José Manuel Crespo, Mariana Bendersky, Facundo Oscar Silveira, Lucila Lecchini, María Belén Luis, Francisco Caiza Zambrano, Norberto Cotti, Conrado J Simison, Florencia Aguirre, María Agustina Piedrabuena, Ricardo Nicolás Alonso, Carolina Laura Azcona, Pablo Sebastian Sosa, Evangelina Maldonado, Francisco Varela, Mariela Bettini, Roberto D Rey, Luciana León Cejas, Marcelo Rugiero, Ricardo Reisin, Fabio Barroso","doi":"10.1097/CND.0000000000000437","DOIUrl":"https://doi.org/10.1097/CND.0000000000000437","url":null,"abstract":"Abstract: In the context of the global vaccination campaign against COVID-19, several cases of postvaccinal Guillain-Barré syndrome (GBS) were reported. Whether a causal relationship exists between these events has yet to be established. We investigated the clinical and electromyographic characteristics of patients who developed GBS after COVID-19 vaccination and compare these with findings in patients with GBS, without a history of recent vaccination. We included 91 cases between March 2020 and March 2022, treated at 10 referral hospitals of Buenos Aires, Argentina. Of these, 46 had received vaccination against COVID-19 within the previous month. Although Medical Research Council sum-scores were similar in both groups (median 52 vs. 50; P = 0.4), cranial nerve involvement was significantly more frequent in the postvaccination group (59% vs. 38%; P = 0.02), as was bilateral facial paralysis (57% vs. 24%; P = 0.002). No differences were found in clinical or neurophysiological phenotypes, although 17 subjects presented the variant of bilateral facial palsy with paresthesias (11 vs. 6; P = 0.1); nor were significant differences observed in length of hospital stay or mortality rates. Future vaccine safety monitoring and epidemiology studies are essential to demonstrate any potential causal relationship between these events.","PeriodicalId":39645,"journal":{"name":"Journal of Clinical Neuromuscular Disease","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2023-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10421214","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

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":"https://doi.org/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":null,"pages":null},"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

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":"https://doi.org/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":null,"pages":null},"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

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":"https://doi.org/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":null,"pages":null},"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

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

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