European Journal of Neurology最新文献

{"title":"Patient-reported daily functioning after SARS-CoV-2 vaccinations in autoimmune neuromuscular diseases","authors":"Koos P. J. van Dam,&nbsp;Luuk Wieske,&nbsp;Eileen W. Stalman,&nbsp;Laura Y. L. Kummer,&nbsp;Anneke J. van der Kooi,&nbsp;Joost Raaphorst,&nbsp;Diederik van de Beek,&nbsp;Jan J. G. M. Verschuuren,&nbsp;Annabel M. Ruiter,&nbsp;Esther Brusse,&nbsp;Pieter A. van Doorn,&nbsp;Adája E. Baars,&nbsp;W. Ludo van der Pol,&nbsp;H. Stephan Goedee,&nbsp;Anja ten Brinke,&nbsp;S. Marieke van Ham,&nbsp;Theo Rispens,&nbsp;Taco W. Kuijpers,&nbsp;Filip Eftimov,&nbsp;the T2B! Immunity Against SARS-CoV-2 Study Group","doi":"10.1111/ene.16409","DOIUrl":"10.1111/ene.16409","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Background and purpose</h3>\u0000 \u0000 <p>There are concerns for safety regarding SARS-CoV-2 vaccines for patients with autoimmune neuromuscular disease. We compared daily functioning using disease-specific patient-reported outcome measures (PROMs) before and after SARS-CoV-2 vaccinations.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>In this substudy of a prospective observational cohort study (Target-to-B!), patients with myasthenia gravis (MG), chronic inflammatory demyelinating polyneuropathy (CIDP), multifocal motor neuropathy (MMN), and idiopathic inflammatory myopathy (IIM) vaccinated against SARS-CoV-2 were included. Surveys of daily functioning (Myasthenia Gravis Activities of Daily Living, Inflammatory Rasch-Built Overall Disability Scale, Multifocal Motor Neuropathy Rasch-Built Overall Disability Scale, and Health Assessment Questionnaire–Disability Index) were sent before first vaccination and every 60 days thereafter for up to 12 months. Regression models were constructed to assess differences in PROM scores related to vaccination, compared to scores unrelated to vaccination. We also assessed the proportion of patients with deterioration of at least the minimal clinically important difference (MCID) between before first vaccination and 60 days thereafter.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>We included 325 patients (median age = 59 years, interquartile range = 47–67, 156 [48%] female sex), of whom 137 (42%) had MG, 79 (24%) had CIDP, 43 (13%) had MMN, and 66 (20%) had IIM. PROM scores related to vaccination did not differ from scores unrelated to vaccination. In paired PROMs, MCID for deterioration was observed in three of 49 (6%) MG patients, of whom none reported a treatment change. In CIDP, MCID for deterioration was observed in eight of 29 patients (28%), of whom two of eight (25%) reported a treatment change.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusions</h3>\u0000 \u0000 <p>SARS-CoV-2 vaccination had no effect on daily functioning in patients with autoimmune neuromuscular diseases, confirming its safety in these patients.</p>\u0000 </section>\u0000 </div>","PeriodicalId":11954,"journal":{"name":"European Journal of Neurology","volume":"31 12","pages":""},"PeriodicalIF":4.5,"publicationDate":"2024-09-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11555150/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142139677","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Risk of aspiration pneumonia and hospital mortality in Parkinson disease: A systematic review and meta-analysis","authors":"Wei Yu Chua,&nbsp;Jia Dong James Wang,&nbsp;Claire Kar Min Chan,&nbsp;Ling-Ling Chan,&nbsp;Eng-King Tan","doi":"10.1111/ene.16449","DOIUrl":"10.1111/ene.16449","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Background and Purpose</h3>\u0000 \u0000 <p>This study was undertaken to conduct a meta-analysis on the prevalence of aspiration pneumonia (AP) and hospital mortality in Parkinson disease (PD) as well as the risk of AP in PD patients compared to controls.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>We searched MEDLINE and Embase from inception to 19 March 2024 to identify cross-sectional, cohort, and case–control studies comparing the frequency of AP and hospital mortality in PD patients. We computed risk ratios (RRs) with accompanying 95% confidence intervals (CIs) for each study and pooled the results using a random-effects meta-analysis.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>A total of 781 studies were initially screened, and 13 studies involving 541,785,587 patients were included. Patients with PD had &gt;3 times higher risk of AP compared to controls (RR = 3.30, 95% CI = 1.82–6.00, <i>p</i> &lt; 0.0001). This increased risk was similar in both cohort studies (RR = 3.01, 95% CI = 1.10–8.24, <i>p</i> = 0.03) and case–control studies (RR = 3.86, 95% CI = 3.84–3.87, <i>p</i> &lt; 0.00001). The prevalence of AP in 12 studies was 2.74% (95% CI = 1.69–4.41), and hospital mortality was 10% in six studies (10.0%, 95% CI = 5.32–18.0). Prevalence of AP was higher in studies with smaller sample size (5.26%, 95% CI = 3.08–8.83 vs. 2.06%, 95% CI = 1.19–3.55, <i>p</i> = 0.02).</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusions</h3>\u0000 \u0000 <p>Our meta-analysis showed that patients with PD had &gt;3 times higher risk of AP, with an average 2.74% prevalence and 10.0% hospital mortality. Early recognition and treatment of AP in PD patients will help reduce morbidity and mortality. A multidisciplinary holistic approach is needed to address the multifactorial causes of AP.</p>\u0000 </section>\u0000 </div>","PeriodicalId":11954,"journal":{"name":"European Journal of Neurology","volume":"31 12","pages":""},"PeriodicalIF":4.5,"publicationDate":"2024-09-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11555015/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142139678","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Comparison of the diagnostic accuracy of the 2010 European Federation of Neurological Societies/Peripheral Nerve Society and American Association of Electrodiagnostic Medicine diagnostic criteria for multifocal motor neuropathy","authors":"Pietro Emiliano Doneddu,&nbsp;Chiara Gallo,&nbsp;Luca Gentile,&nbsp;Dario Cocito,&nbsp;Yuri Falzone,&nbsp;Vincenzo Di Stefano,&nbsp;Maurizio Inghilleri,&nbsp;Giuseppe Cosentino,&nbsp;Sabrina Matà,&nbsp;Anna Mazzeo,&nbsp;Massimiliano Filosto,&nbsp;Erdita Peci,&nbsp;Benedetta Sorrenti,&nbsp;Filippo Brighina,&nbsp;Federica Moret,&nbsp;Elisa Vegezzi,&nbsp;Martina Sperti,&nbsp;Barbara Risi,&nbsp;Eduardo Nobile-Orazio,&nbsp;on the behalf of the Italian MMN Database Study Group","doi":"10.1111/ene.16444","DOIUrl":"10.1111/ene.16444","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Background and Purpose</h3>\u0000 \u0000 <p>This study was undertaken to compare the sensitivity and specificity of the 2010 European Federation of Neurological Societies/Peripheral Nerve Society (EFNS/PNS) diagnostic criteria for multifocal motor neuropathy (MMN) with those of the American Association of Electrodiagnostic Medicine (AAEM).</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>Sensitivity and specificity of the two sets of criteria were retrospectively evaluated in 53 patients with MMN and 280 controls with axonal peripheral neuropathy, inflammatory demyelinating polyneuropathy, or amyotrophic lateral sclerosis. Comparison of the utility of nerve conduction studies with different numbers of nerves examined was also assessed.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>The 2010 EFNS/PNS criteria had a sensitivity of 47% for definite MMN and 57% for probable/definite MMN, whereas the AAEM criteria had a sensitivity of 28% for definite MMN and 53% for probable/definite MMN. The sensitivity of the AAEM criteria was higher when utilizing area compared to amplitude reduction to define conduction block. Using supportive criteria, the sensitivity of the 2010 EFNS/PNS criteria for probable/definite MMN increased to 64%, and an additional 36% patients fulfilled the criteria (possible MMN). Specificity values for definite and probable/definite MMN were slightly higher with the AAEM criteria (100%) compared to the EFNS/PNS criteria (98.5% and 97%). Extended nerve conduction studies yielded slightly increased diagnostic sensitivity for both sets of criteria without significantly affecting specificity.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusions</h3>\u0000 \u0000 <p>In our patient populations, the 2010 EFNS/PNS criteria demonstrated higher sensitivity but slightly lower specificity compared to the AAEM criteria. Extended nerve conduction studies are advised to achieve slightly higher sensitivity while maintaining very high specificity.</p>\u0000 </section>\u0000 </div>","PeriodicalId":11954,"journal":{"name":"European Journal of Neurology","volume":"31 12","pages":""},"PeriodicalIF":4.5,"publicationDate":"2024-09-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11554852/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142139674","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"From guidelines to clinical practice in care for ischaemic stroke patients: A systematic review and expert opinion","authors":"Charlotte Lens,&nbsp;Jelle Demeestere,&nbsp;Barbara Casolla,&nbsp;Hanne Christensen,&nbsp;Urs Fischer,&nbsp;Peter Kelly,&nbsp;Carlos Molina,&nbsp;Simona Sacco,&nbsp;Else Charlotte Sandset,&nbsp;Daniel Strbian,&nbsp;Götz Thomalla,&nbsp;Georgios Tsivgoulis,&nbsp;Kris Vanhaecht,&nbsp;Caroline Weltens,&nbsp;Ellen Coeckelberghs,&nbsp;Robin Lemmens","doi":"10.1111/ene.16417","DOIUrl":"10.1111/ene.16417","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Background and purpose</h3>\u0000 \u0000 <p>Guidelines help physicians to provide optimal care for stroke patients, but implementation is challenging due to the quantity of recommendations. Therefore a practical overview related to applicability of recommendations can be of assistance.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>A systematic review was performed on ischaemic stroke guidelines published in scientific journals, covering the whole acute care process for patients with ischaemic stroke. After data extraction, experts rated the recommendations on dimensions of applicability, that is, actionability, feasibility and validity, on a 9-point Likert scale. Agreement was defined as a score of ≥8 by ≥80% of the experts.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>Eighteen articles were identified and 48 recommendations were ultimately extracted. Papers were included only if they described the whole acute care process for patients with ischaemic stroke. Data extraction and analysis revealed variation in terms of both content and comprehensiveness of this description. Experts reached agreement on 34 of 48 (70.8%) recommendations in the dimension actionability, for 16 (33.3%) in feasibility and for 15 (31.3%) in validity. Agreement on all three dimensions was reached for seven (14.6%) recommendations: use of a stroke unit, exclusion of intracerebral haemorrhage as differential diagnosis, administration of intravenous thrombolysis, performance of electrocardiography/cardiac evaluation, non-invasive vascular examination, deep venous thrombosis prophylaxis and administration of statins if needed.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Discussion and conclusion</h3>\u0000 \u0000 <p>Substantial variation in agreement was revealed on the three dimensions of the applicability of recommendations. This overview can guide stroke physicians in improving the care process and removing barriers where implementation may be hampered by validity and feasibility.</p>\u0000 </section>\u0000 </div>","PeriodicalId":11954,"journal":{"name":"European Journal of Neurology","volume":"31 12","pages":""},"PeriodicalIF":4.5,"publicationDate":"2024-09-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11554874/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142139675","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Development and validation of an electronic Symbol-Digit Modalities Test for remote monitoring of people with multiple sclerosis.","authors":"Michelangelo Dini, Giulia Gamberini, Marta Tacchini, Angela Boschetti, Alessandro Gradassi, Luca Chiveri, Mariaemma Rodegher, Giancarlo Comi, Letizia Leocani","doi":"10.1111/ene.16454","DOIUrl":"https://doi.org/10.1111/ene.16454","url":null,"abstract":"<p><strong>Background: </strong>Computerized cognitive tests may extend the reach of cognitive screening and monitoring to those with mobility issues or living in remote areas. Moreover, it could enable frequent and autonomous remote cognitive assessments in people with multiple sclerosis (pwMS) on account of its reduced economic and organizational costs. This may further improve our understanding of longitudinal trends and significantly improve the standard of care for pwMS living in remote areas or with mobility limitations. We aimed to evaluate the psychometric properties of an electronic Symbol-Digit Modalities Test (eSDMT) designed to allow pwMS to perform a rapid cognitive assessment independently from home using their own PC/laptop.</p><p><strong>Methods: </strong>Sixty-two participants underwent a neuropsychological evaluation, and then performed the eSDMT in the clinic. Forty-two participants also repeated the eSDMT at home. We assessed concurrent validity (eSDMT vs. oral SDMT), test-retest reliability (in the clinic vs. at home), discriminant validity (pwMS with/without cognitive impairment), and other psychometric characteristics of the eSDMT (effect of age, sex, and education on test scores).</p><p><strong>Results: </strong>We observed good-to-excellent concurrent validity (r ≥ 0.84, all p < 0.0001) and test-retest reliability (intraclass correlation coefficients [ICCs]>0.87, all p < 0.0001). Discriminant validity was excellent (area under the curves [AUCs] >0.84, all p < 0.0001). eSDMT scores were only slightly influenced by demographic characteristics (all R² < 0.200).</p><p><strong>Conclusions: </strong>We provided evidence which supports the use of our eSDMT as a feasible, valid, and reliable remote assessment of cognitive function in pwMS. Future studies will investigate long-term reliability and predictive power.</p>","PeriodicalId":11954,"journal":{"name":"European Journal of Neurology","volume":" ","pages":"e16454"},"PeriodicalIF":4.5,"publicationDate":"2024-09-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142132195","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Treatment of juvenile myasthenia gravis with tacrolimus: A cohort study","authors":"Guoli Wang,&nbsp;Miriam Kessi,&nbsp;Xi Huang,&nbsp;Wen Zhang,&nbsp;Ciliu Zhang,&nbsp;Fang He,&nbsp;Jing Peng,&nbsp;Fei Yin,&nbsp;Lifen Yang","doi":"10.1111/ene.16466","DOIUrl":"10.1111/ene.16466","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Background</h3>\u0000 \u0000 <p>We investigated the proper timing, efficacy and safety of tacrolimus for juvenile myasthenia gravis (JMG).</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>We conducted a retrospective cohort study for JMG patients treated with tacrolimus at Xiangya Hospital, Central South University, Changsha, China from 2010 to 2023. The clinical information of patients with a follow-up of more than 1 year was collected. Comparisons of clinical features between groups of patients who achieved therapeutic goal and those who did not achieve therapeutic goal as well as between groups of patients treated with tacrolimus within or after 1 year from JMG onset was carried out.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>Forty-three patients were enrolled, of whom 28 achieved therapeutic goal. Tacrolimus reduced glucocorticoids (GC) dosages for the 28 cases and 15 cases discontinued GC completely. Generalized myasthenia gravis (GMG) subtype had an association with a group of patients who achieved therapeutic goal (<i>p</i> = 0.001). Median duration from JMG onset to tacrolimus use was 10.50 months for those who achieved therapeutic goal and 36.00 months for those who did not achieve therapeutic goal (<i>p</i> = 0.010). The median Myasthenia Gravis Activities of Daily Living (MG-ADL) score improved significantly (<i>p</i> = 0.003). The initiation of tacrolimus within 1 year of JMG onset showed an association with achievement of therapeutic goal (<i>p</i> = 0.026). GMG subtype showed an association with a group of patients who received tacrolimus within 1 year (<i>p</i> = &lt;0.001). Tacrolimus side effects were tolerable.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusion</h3>\u0000 \u0000 <p>The provision of tacrolimus within 1 year of JMG onset is effective and safe.</p>\u0000 </section>\u0000 </div>","PeriodicalId":11954,"journal":{"name":"European Journal of Neurology","volume":"31 12","pages":""},"PeriodicalIF":4.5,"publicationDate":"2024-09-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11555145/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142125134","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Effectiveness and safety of monthly versus quarterly fremanezumab for migraine prevention: An Italian, multicenter, real-life study","authors":"Laura Zanandrea,&nbsp;Roberta Messina,&nbsp;Ilaria Cetta,&nbsp;Federica Genovese,&nbsp;Simone Guerrieri,&nbsp;Fabrizio Vernieri,&nbsp;Claudia Altamura,&nbsp;Sabina Cevoli,&nbsp;Valentina Favoni,&nbsp;Bruno Colombo,&nbsp;Massimo Filippi","doi":"10.1111/ene.16410","DOIUrl":"10.1111/ene.16410","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Background and Purpose</h3>\u0000 \u0000 <p>Fremanezumab, a monoclonal antibody targeting the calcitonin gene-related peptide for migraine prevention, is available in monthly (225 mg) and quarterly (675 mg) doses. Previous studies showed efficacy and safety for both regimens, but a real-life comparison is lacking. This study aimed to compare the effectiveness and safety of monthly and quarterly fremanezumab in a real-life setting.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>This Italian, prospective, multicenter study enrolled 95 migraine patients. During a 3-month treatment period, patients received either monthly or quarterly fremanezumab (49 monthly, 46 quarterly). A 6-month treatment period involved 79 patients (43 monthly, 36 quarterly). Monthly headache (MHD) and migraine days (MMD), number of days (AMD) and pills (AMP) of acute medication intake, and Headache Impact Test (HIT-6), Migraine Disability Assessment (MIDAS) test, and Numeric Rating Scale (NRS) scores were recorded at baseline and after 3 and 6 months of treatment. Adverse events (AEs), responder rates, and medication overuse were also investigated.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>Both monthly and quarterly treatments led to significant reductions in MMD, MHD, AMP, AMD, HIT-6, MIDAS, and NRS scores after 3 and 6 months. The monthly regimen exhibited a slightly greater reduction in MMD and MHD after the first quarter, with no significant difference observed after 6 months. The most common AE was transient injection-site reaction, without between-group differences. Responder rates and resolution of medication overuse did not significantly differ between the groups.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusions</h3>\u0000 \u0000 <p>Both monthly and quarterly regimens were effective and safe, with a tendency for an advantage of the monthly regimen only in the first quarter of treatment.</p>\u0000 </section>\u0000 </div>","PeriodicalId":11954,"journal":{"name":"European Journal of Neurology","volume":"31 12","pages":""},"PeriodicalIF":4.5,"publicationDate":"2024-09-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11554877/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142132196","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Nonamyloidogenic TTR gene variants c.76G>A and c.337-18G>C are not associated with idiopathic small-fiber neuropathy","authors":"Céline Konecki,&nbsp;Bruno Francou,&nbsp;Kenneth Chappell,&nbsp;Lucie Augey,&nbsp;Guillemette Beaudonnet,&nbsp;Cécile Cauquil,&nbsp;Dalia Dimitri-Boulos,&nbsp;Adeline Not,&nbsp;Clovis Adam,&nbsp;Vianney Poinsignon,&nbsp;Céline Verstuyft,&nbsp;David Adams,&nbsp;Andoni Echaniz-Laguna,&nbsp;Céline Labeyrie","doi":"10.1111/ene.16461","DOIUrl":"10.1111/ene.16461","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Background and Purpose</h3>\u0000 \u0000 <p>Small-fiber neuropathy (SFN) affects only unmyelinated and thin myelinated fibers. It may be caused by amyloidogenic mutations of the transthyretin (<i>TTR</i>) gene, but not all <i>TTR</i> gene variants are pathogenic. The nonamyloidogenic c.76G&gt;A (rs1800458) and c.337-18G&gt;C (rs36204272) variants of <i>TTR</i> were recently reported to be associated with SFN. We investigated this putative association by analyzing <i>TTR</i> gene sequencing data retrospectively for two cohorts of patients, one with SFN and a control group.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>In this retrospective single-center study, we analyzed the frequency of the c.76G&gt;A and c.337-18G&gt;C <i>TTR</i> gene variants in a cohort of patients meeting a strict definition of SFN, with or without dysautonomia, a control cohort of patients investigated for nonneurological conditions, and the gnomAD international database.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>We included 55 SFN patients in this study, 17 of whom had dysautonomia. The allelic frequencies of the two variants in our cohort of 55 SFN patients were 7.27% for c.76G&gt;A <i>TTR</i> and 5.25% for c.337-18G&gt;C. The frequencies of both variants were statistically similar in the 337 control patients and the gnomAD database.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusions</h3>\u0000 \u0000 <p>The c.76G&gt;A and c.337-18G&gt;C <i>TTR</i> gene variants are not associated with SFN.</p>\u0000 </section>\u0000 </div>","PeriodicalId":11954,"journal":{"name":"European Journal of Neurology","volume":"31 12","pages":""},"PeriodicalIF":4.5,"publicationDate":"2024-09-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11555007/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142125133","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Median nerve lesions in pediatric displaced supracondylar humerus fracture: A prospective neurological, electrodiagnostic and ultrasound characterization","authors":"Ines Sophie Schädlich,&nbsp;Sabriena Buschbaum,&nbsp;Tim Magnus,&nbsp;Konrad Reinshagen,&nbsp;Kristofer Wintges,&nbsp;Mathias Gelderblom","doi":"10.1111/ene.16459","DOIUrl":"10.1111/ene.16459","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Background and Purpose</h3>\u0000 \u0000 <p>Supracondylar humerus fractures (SCHFs) are the most common elbow fractures in children. Traumatic median nerve injury and isolated lesions of its pure forearm motor branch, anterior interosseus nerve (AIN), have both been independently reported as complications of displaced SCHFs. Our main objectives were to characterize the neurological syndrome to distinguish median nerve from AIN lesions and to determine the prognosis of median nerve lesions after displaced SCHFs.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>Ten children were prospectively followed for an average of 11.6 months. Patients received a standardized clinical examination and high-resolution ultrasound of the median nerve every 1–3 months starting 1–2 months after trauma. Electrodiagnostic studies were performed within the first 4 months and after complete clinical recovery.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>All children shared a clinical syndrome with predominant but not exclusive affection of AIN innervated muscles. High-resolution ultrasound uniformly excluded persistent nerve entrapment and neurotmesis requiring revision surgery but visualized post-traumatic median nerve neuroma at the fracture site in all patients. Electrodiagnostic studies showed axonal motor and sensory median nerve neuropathy. All children achieved complete functional recovery under conservative management. Motor recovery required up to 11 months and differed between involved muscles.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusions</h3>\u0000 \u0000 <p>It was shown that neurological deficits of the median nerve in displaced SCHFs exceeded an isolated AIN lesion. Notably, detailed neurological follow-up examinations and sonographic exclusion of persistent nerve compression were able to guide conservative therapy in affected children. Under these conditions the prognosis of median nerve lesions was excellent despite severe initial deficits, development of neuroma and axonal injury.</p>\u0000 </section>\u0000 </div>","PeriodicalId":11954,"journal":{"name":"European Journal of Neurology","volume":"31 12","pages":""},"PeriodicalIF":4.5,"publicationDate":"2024-09-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11555132/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142125132","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Education for fatigue management in people with multiple sclerosis: Systematic review and meta-analysis","authors":"Maria Janina Wendebourg,&nbsp;Jana Poettgen,&nbsp;Marcia Finlayson,&nbsp;Marien Gonzalez-Lorenzo,&nbsp;Christoph Heesen,&nbsp;Sascha Köpke,&nbsp;Andrea Giordano","doi":"10.1111/ene.16452","DOIUrl":"10.1111/ene.16452","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Background and Purpose</h3>\u0000 \u0000 <p>Fatigue is a common and disabling symptom in multiple sclerosis (MS). Educational interventions have shown potential to reduce fatigue. The aim was to systematically review the current best evidence on patient education programmes for MS-related fatigue.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>This was a systematic review and meta-analysis following Cochrane methodology. A systematic search was conducted in eight databases (September 2023). Moreover, reference lists and trial registers were searched and experts in the field were contacted. Randomized controlled trials were included evaluating patient education programmes for people with MS with the primary aim of reducing fatigue.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>In total, 1176 studies were identified and assessed by two independent reviewers; 15 studies (1473 participants) were included. All interventions provided information and education about different aspects of MS-related fatigue with different forms of application, some with components of psychological interventions. Amongst those, the most frequently applied were cognitive behavioural therapy (<i>n</i> = 5) and energy-conservation-based approaches (<i>n</i> = 4). Studies differed considerably concerning mode of intervention delivery, number of participants and length of follow-up. Interventions reduced fatigue severity (eight studies, <i>n</i> = 878, standardized mean difference −0.28; 95% confidence interval −0.53 to −0.03; low certainty) and fatigue impact (nine studies, <i>n</i> = 824, standardized mean difference −0.21; 95% confidence interval −0.42 to 0.00; moderate certainty) directly after the intervention. Mixed results were found for long-term effects on fatigue, for secondary endpoints (depressive symptoms, quality of life, coping) and for subgroup analyses.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusion</h3>\u0000 \u0000 <p>Educational interventions for people with MS-related fatigue may be effective in reducing fatigue in the short term. More research is needed on long-term effects and the importance of specific intervention components, delivery and context.</p>\u0000 </section>\u0000 </div>","PeriodicalId":11954,"journal":{"name":"European Journal of Neurology","volume":"31 12","pages":""},"PeriodicalIF":4.5,"publicationDate":"2024-09-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11555147/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142119316","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}