Acta neurologica Belgica最新文献

{"title":"Cochlear hemorrhage in a patient with pneumococcal meningitis.","authors":"Teresa Perillo, Raffaella Capasso, Antonio Pinto","doi":"10.1007/s13760-024-02624-8","DOIUrl":"https://doi.org/10.1007/s13760-024-02624-8","url":null,"abstract":"","PeriodicalId":7042,"journal":{"name":"Acta neurologica Belgica","volume":" ","pages":""},"PeriodicalIF":2.0,"publicationDate":"2024-08-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141915841","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"L-serine treatment in a patient with refractory epilepsy due to a GRIN2A missense mutation","authors":"Hui Jin Shin, Ara Ko, Se Hee Kim, Hoon-Chul Kang, Joon Soo Lee","doi":"10.1007/s13760-024-02616-8","DOIUrl":"10.1007/s13760-024-02616-8","url":null,"abstract":"","PeriodicalId":7042,"journal":{"name":"Acta neurologica Belgica","volume":"124 6","pages":"2025 - 2028"},"PeriodicalIF":2.0,"publicationDate":"2024-08-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141892597","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Predictors of spontaneous intracerebral hemorrhage mortality: a community-based study in Brno, Czech Republic","authors":"Albert Sterba,&nbsp;Petra Sedova,&nbsp;Robert D. Brown Jr.,&nbsp;Albert Stehlik,&nbsp;Tomas Bryndziar,&nbsp;Petra Cimflova,&nbsp;Miroslav Zvolsky,&nbsp;Silvie Belaskova,&nbsp;Ingrid Kovacova,&nbsp;Josef Bednarik,&nbsp;Robert Mikulík","doi":"10.1007/s13760-024-02612-y","DOIUrl":"10.1007/s13760-024-02612-y","url":null,"abstract":"<div><h3>Background and objective</h3><p>Intracerebral hemorrhage (ICH) is a serious medical condition with high mortality. However, factors leading to long-term mortality after ICH are largely unclear. The aim of this community-based study is to assess predictors of long-term mortality after spontaneous ICH.</p><h3>Methods</h3><p>We identified all patients admitted with spontaneous ICH to hospitals with a certified stroke unit in Brno, the second largest city in the Czech Republic (CR), in 2011, the year of the Czech Population and Housing Census. We reviewed their medical records for risk factors, radiographic parameters, and measures of post-stroke neurological deficit [National Institutes of Health Stroke Scale (NIHSS)]. Using the dates of death from the Czech National Mortality Register, we calculated mortality at 30 days, six months, one year, and three years after the ICH. Multivariate analysis with forward stepwise logistic regression was performed to determine independent predictors of mortality (<i>p</i> &lt; 0.05).</p><h3>Results</h3><p>In 2011, 1086 patients with stroke were admitted to the four stroke-certified hospitals in Brno, CR. Of these, 134 had spontaneous ICH, with complete data available in 93 of them entering the final analysis. The mortality at 30 days, 6 months, 1 year, and 3 years post-ICH was 34%, 47%, 51%, and 63%, respectively. The mortality was highest in the first few days post-event, with 50% of patients dying in 255 days and average survival being 884 ± 90 days. Both NIHSS and modified ICH (MICH) score showed to be strong and reliable predictors of short- as well as long-term mortality; the risk of death post-ICH increased with older age and size of ICH. Other risk factors contributing to higher, primarily shorter-term mortality included history of cardiac failure, myocardial infarction, or atrial fibrillation.</p><h3>Conclusions</h3><p>In our community-based study, we found that severity of neurological deficit at admission (NIHSS), combined with age and size of ICH, well predicted short- as well as long-term mortality after spontaneous ICH. A history of cardiac failure, myocardial infarction, or atrial fibrillation at presentation were also predictors of mortality, underscoring the need for optimal cardiac management in patients with ICH.</p></div>","PeriodicalId":7042,"journal":{"name":"Acta neurologica Belgica","volume":"124 6","pages":"1945 - 1958"},"PeriodicalIF":2.0,"publicationDate":"2024-08-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141888142","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Association between peripheral blood immunological status and intrathecal inflammatory markers differentiate multiple sclerosis clinical phenotypes","authors":"Ana Turčić,&nbsp;Josip Knežević,&nbsp;Ljiljana Zaninović,&nbsp;Mario Habek,&nbsp;Magdalena Krbot Skorić,&nbsp;Antonija Babić,&nbsp;Željka Vogrinc","doi":"10.1007/s13760-024-02597-8","DOIUrl":"10.1007/s13760-024-02597-8","url":null,"abstract":"<div><h3>Background</h3><p>The difference in the clinical course, response to therapy, and distribution of CNS inflammation in primary-progressive (PPMS) and relapsing-remitting multiple sclerosis (RRMS) suggests differences in the underlying immunological characteristics of the disease. We aimed to investigate differences in immunological profiles in relation to intrathecal inflammation in different MS forms.</p><h3>Methods</h3><p>The peripheral blood (PB) proportions of CD4 + and CD8 + T-cells and CD19 + B-cells were retrospectively compared with the markers of intrathecal immunoglobulin G (IgG) synthesis at diagnosis: IgG index, percentage of intrathecal IgG synthesis (IF IgG), the number of oligoclonal bands (OCB), depending on the blood-brain barrier (BBB) function, and antibody specific index to neurotrophic viruses (MRZH reaction).</p><h3>Results</h3><p>Thirty-six controls, 71 RRMS and 25 PPMS were enrolled. PPMS had higher percentage of CD4 + T-cells compared to RRMS (<i>P</i> = 0.043) and controls (<i>P</i> = 0.003). The percentage of CD8 + T-cells and CD19 + B-cells, and respective absolute cell counts did not differ according to the MS phenotype. In RRMS with the dysfunctional BBB, the IgG index (<i>r</i> = 0.642, <i>P</i> = 0.012) correlated significantly with the CD19 + B-cells while the CD4 + T-cells inversely correlated with IF IgG (<i>r</i>=-0.574, <i>P</i> = 0.039). Interestingly, in PPMS the number of OCB was positively associated with CD4+ (<i>r</i> = 0.603, <i>P</i> = 0.015) and negatively associated with CD8 + T-cells (<i>r</i>=-0.554, <i>P</i> = 0.033), while IF IgG negatively correlated with CD8 + T-cells (<i>r</i>=-0.689, <i>P</i> = 0.003), but only in the preserved BBB function.</p><h3>Conclusions</h3><p>The PB CD4 + T-cells and B-cells were associated with the intrathecal inflammation in RRMS with BBB dysfunction while CD8 + T-cells were involved in PPMS with CNS-compartmentalized inflammation.</p></div>","PeriodicalId":7042,"journal":{"name":"Acta neurologica Belgica","volume":"124 6","pages":"1935 - 1944"},"PeriodicalIF":2.0,"publicationDate":"2024-08-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141878206","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Pediatric case of a particularly large clear cell meningioma - a case report","authors":"Markéta Češpivová,&nbsp;Martin Lammens,&nbsp;Dana Dumitriu,&nbsp;Herbert Rooijakkers,&nbsp;Lina Daoud","doi":"10.1007/s13760-024-02618-6","DOIUrl":"10.1007/s13760-024-02618-6","url":null,"abstract":"","PeriodicalId":7042,"journal":{"name":"Acta neurologica Belgica","volume":"124 6","pages":"2021 - 2024"},"PeriodicalIF":2.0,"publicationDate":"2024-08-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141878207","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Sjögren syndrome and neuromyelitis optica spectrum disorder associated with early relapse after initial paucity of symptoms.","authors":"G Magro, O Di Benedetto, G Fazio, M Trimboli","doi":"10.1007/s13760-024-02614-w","DOIUrl":"https://doi.org/10.1007/s13760-024-02614-w","url":null,"abstract":"","PeriodicalId":7042,"journal":{"name":"Acta neurologica Belgica","volume":" ","pages":""},"PeriodicalIF":2.0,"publicationDate":"2024-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141873912","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"\"If you cannot measure it, you cannot improve it\". Outcome measures in Duchenne Muscular Dystrophy: current and future perspectives.","authors":"Silvia Benemei, Francesca Gatto, Luca Boni, Marika Pane","doi":"10.1007/s13760-024-02600-2","DOIUrl":"10.1007/s13760-024-02600-2","url":null,"abstract":"<p><p>Duchenne Muscular Dystrophy (DMD) is an X-linked recessive neuromuscular disorder primarily affecting males, caused by mutations in the dystrophin gene. The absence of dystrophin protein leads to progressive skeletal muscle degeneration. Recent advances in the therapeutic landscape underscore the need to identify appropriate outcome measures to assess treatment efficacy in ambulant and non-ambulant DMD patients, across clinical and research settings. This is essential for accurately evaluating new treatments and attributing therapeutic benefits.It is crucial to establish a robust correlation between outcome scores and disease progression patterns. This task is challenging since functional test performance may be influenced by different patient's characteristics, including the physiological evolution of the neurodevelopment together with the disease progression. While widely used DMD outcomes such as the North Star Ambulatory Assessment, the 6-Minute Walking Test, the 4 stairs climbed, and the Performance of the Upper Limb exhibit reliability and validity, their clinical significance is influenced by the wide phenotype and progression variability of the disease.We present and discuss the features (relevance, quantifiability, validity, objectivity, reliability, sensitivity, specificity, precision) of available DMD outcome measures, including new potential measures that may be provided by digital tools and artificial intelligence.</p>","PeriodicalId":7042,"journal":{"name":"Acta neurologica Belgica","volume":" ","pages":""},"PeriodicalIF":2.0,"publicationDate":"2024-07-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141854513","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Hydrops regression after vestibular denervation - longitudinal magnetic resonance study in patients with severe Meniere’s disease treated with vestibular neurectomy","authors":"Agnieszka Jasińska-Nowacka,&nbsp;Magdalena Lachowska,&nbsp;Emilia Wnuk,&nbsp;Kazimierz Niemczyk","doi":"10.1007/s13760-024-02605-x","DOIUrl":"10.1007/s13760-024-02605-x","url":null,"abstract":"<div><h3>Objectives</h3><p>The aim was to evaluate endolymphatic hydrops in patients with severe Ménière’s disease (MD) before and after vestibular neurectomy to verify if vestibular denervation results in hydrops regression.</p><h3>Methods</h3><p>Magnetic resonance imaging was performed after intravenous gadolinium injection in twenty patients with unilateral definite MD before and after the vestibular neurectomy. Clinical symptoms and audiovestibular tests were evaluated. Follow-up intervals ranged from 18 to 35 months after the surgery.</p><h3>Results</h3><p>Endolymphatic hydrops were visualized in all patients in the preoperative scans. After the vestibular neurectomy, all patients presented a complete resolution of vertigo episodes. Regression of the endolymphatic hydrops was observed in 35% and 15% of cases analyzing cochlea and vestibule, respectively. In 71.43% of patients with utricular herniation into the lateral semicircular canal, withdrawal of the hernia was visualized. Asymmetrical contrast enhancement in the cochlea regressed in 17.64% of cases. Analyzing all the parameters collectively, in 60% of patients, partial regression of at least one of the radiological signs was confirmed in the follow-up examination. No progression of the endolymphatic hydrops was visualized after the surgery in either the cochlea or the vestibule.</p><h3>Conclusions</h3><p>Vestibular neurectomy is an effective treatment, eliminating vertigo attacks and improving the quality of life in patients with MD. Magnetic resonance imaging of the inner ear allows visualization of changes in endolymphatic hydrops degree after treatment. Regression of the endolymphatic hydrops after vestibular neurectomy suggests that vestibular denervation may effectively halt the progression of the endolymphatic space dilatation and result in hydrops regression.</p></div>","PeriodicalId":7042,"journal":{"name":"Acta neurologica Belgica","volume":"124 6","pages":"1923 - 1934"},"PeriodicalIF":2.0,"publicationDate":"2024-07-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://link.springer.com/content/pdf/10.1007/s13760-024-02605-x.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141791638","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"A case of mixed hereditary gelsolin amyloidosis and hydroxychloroquine induced myopathy","authors":"Gloria Mak,&nbsp;Mark Tarnopolsky,&nbsp;Jian-Qiang Lu","doi":"10.1007/s13760-024-02607-9","DOIUrl":"10.1007/s13760-024-02607-9","url":null,"abstract":"<div><p>Hereditary gelsolin amyloidosis is an adult onset autosomal dominant disease with neurologic, ophthalmologic and dermatologic features that may be mistaken for Sjögren syndrome. We describe a case of a 68 year old female presenting with facial numbness and asymmetry, dry eyes, dry mouth and fatigue, originally diagnosed as Sjögren syndrome and treated with hydroxychloroquine. Due to her insidious progression of facial weakness with associated proximal muscle weakness she underwent a muscle biopsy, which demonstrated features of hydroxychloroquine induced myopathy and amyloid deposition. This subsequently led to targeted genetic testing, revealing an autosomal dominant c.640G &gt; A pathogenic variant of the gelsolin gene. Therefore, this is a unique case of complex muscle pathology with features of a rare hereditary systemic amyloidosis an uncommon drug- induced myopathy.</p></div>","PeriodicalId":7042,"journal":{"name":"Acta neurologica Belgica","volume":"124 6","pages":"2099 - 2101"},"PeriodicalIF":2.0,"publicationDate":"2024-07-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141791637","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Association between levels of sex hormones and risk of multiple sclerosis: a mendelian randomization study","authors":"Chaofan Geng,&nbsp;Yi Tang","doi":"10.1007/s13760-024-02613-x","DOIUrl":"10.1007/s13760-024-02613-x","url":null,"abstract":"<div><h3>Background</h3><p>This research aimed to examine the causal connections between multiple sclerosis (MS) and a range of sex hormone-related traits, such as bioavailable testosterone (BT), sex hormone-binding globulin (SHBG), testosterone, and estradiol (E2).</p><h3>Methods</h3><p>A bidirectional two-sample Mendelian randomization (MR) analysis using summary statistics from genome-wide association studies (GWAS) was conducted to investigate the relationship between sex hormone-related traits and MS. Moreover, the Inverse-variance weighted (IVW) method was employed as the primary analysis approach.</p><h3>Results</h3><p>The MR analysis, using the IVW method, found a significant correlation between genetically determined SHBG levels and MS (OR = 1.634, 95% CI: 1.029–2.599, <i>p</i> = 0.038). Similarly, the reverse MR analysis suggested a causal link between MS and SHBG (OR = 1.005, 95% CI: 1.001–1.009, <i>P</i> = 0.003). However, no association was observed between MS risk and E2, testosterone, or BT levels.</p><h3>Conclusion</h3><p>Our MR analysis demonstrated that genetically predicted higher SHBG may be positively correlated with the risk of MS. Moreover, the role of SHBG in MS could be further investigated.</p></div>","PeriodicalId":7042,"journal":{"name":"Acta neurologica Belgica","volume":"124 6","pages":"1913 - 1922"},"PeriodicalIF":2.0,"publicationDate":"2024-07-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141787036","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}