Neurologia i neurochirurgia polska最新文献

{"title":"DNAJC30 variants can also manifest phenotypically as Leigh/LHON overlap syndrome.","authors":"Josef Finsterer","doi":"10.5603/pjnns.103221","DOIUrl":"https://doi.org/10.5603/pjnns.103221","url":null,"abstract":"","PeriodicalId":19132,"journal":{"name":"Neurologia i neurochirurgia polska","volume":" ","pages":""},"PeriodicalIF":2.9,"publicationDate":"2024-11-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142731059","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":"Acute polyneuropathy: a serious complication of levodopa/ /carbidopa intestinal gel treatment for Parkinson's Disease.","authors":"Petra Havránková, Jan Roth, Václav Čapek, Jiří Klempíř, Marek Baláž, Irena Rektorová, Vladimír Haň, Matej Skorvanek, Karin Gmitterová, Michal Minár, Peter Valkovič, Michaela Kaiserová, Petr Kaňovský, Milan Grofik, Egon Kurča, Ján Necpál, Robert Jech","doi":"10.5603/pjnns.100132","DOIUrl":"https://doi.org/10.5603/pjnns.100132","url":null,"abstract":"<p><strong>Aim of study: </strong>To determine whether a high dose of levodopa-carbidopa intestinal gel (LCIG), expressed as levodopa equivalent daily dose (LE daily dose), is a risk factor for acute polyneuropathy in patients treated with LCIG.</p><p><strong>Clinical rationale for study: </strong>Treatment with LCIG is an effective device-assisted therapy in the advanced stages of Parkinson's Disease (PD). Polyneuropathy is a well-known complication of PD treatment. Patients treated with oral levodopa usually suffer from sub-clinical or mild chronic sensory polyneuropathy. However, severe acute polyneuropathy occurs in patients treated with LCIG, which is causally related to the treatment and leads to its immediate discontinuation. The etiology is not yet clear, but some patients with acute polyneuropathy have been given high doses of LCIG.</p><p><strong>Material and methods: </strong>A retrospective multicentre study of patients treated with LCIG was performed. Patients with acute polyneuropathy were subjected to a detailed analysis including statistical processing.</p><p><strong>Results: </strong>Of 183 patients treated with LCIG in seven centres, six patients (five females, median age 63 years) developed acute polyneuropathy with LCIG discontinuation. The median (interquartile range) initial and final LE daily dose in patients with and without acute polyneuropathy was 3,015 (2,695-3,184) and 1,898 (1,484-2,167) mg, respectively. The final LE daily dose of 2,605 mg cut-off had 83% sensitivity and 93% specificity for the prediction of acute polyneuropathy.</p><p><strong>Conclusions and clinical implications: </strong>The risk of acute polyneuropathy in LCIG-treated patients was associated with a daily LE dose of greater than 2,605 mg or with more than a 62% increase in the daily LE dose during LCIG treatment.</p>","PeriodicalId":19132,"journal":{"name":"Neurologia i neurochirurgia polska","volume":" ","pages":""},"PeriodicalIF":2.9,"publicationDate":"2024-11-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142676252","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":"Validation analysis of Polish version of Neuropathic Pain Questionnaire - Short Form (NPQ-SF-PL) and assessment of quality of life in patients with chronic neuropathic pain.","authors":"Anna K Szewczyk, Anna Jamroz-Wiśniewska, Konrad Rejdak","doi":"10.5603/pjnns.101185","DOIUrl":"https://doi.org/10.5603/pjnns.101185","url":null,"abstract":"<p><strong>Aim of the study: </strong>The aims of this study were to translate and culturally adapt the Polish version (PL) of the Neuropathic Pain Questionnaire-Short Form (NPQ-SF), as well as to compare this questionnaire to other diagnostic tools in terms of reliability and psychometric validity.</p><p><strong>Clinical rationale for the study: </strong>Neuropathic pain (NP) affects up to 10% of the general population. Despite a large number of studies, almost 50% of patients have a poor therapeutic outcome. Diagnostic tools are intended to distinguish between NP and non-NP (NoP) and to guide the examiner to perform further diagnostics in accordance with the guidelines.</p><p><strong>Material and methods: </strong>A total of 140 patients with chronic pain (ChP), 90 with NP and 50 with NoP, were enrolled into this study. NPQ-SF-PL has been developed following the guidelines for translation and cultural adaptation. Reliability of the translated version was examined using internal consistency, predictive validity, and intraclass correlation coefficient (ICC).</p><p><strong>Results: </strong>In the study, women predominated over men, and the average age was 53.22. Cronbach's α value for the entire scale was 0.76 and ICC for test-retest reliability was 0.631. Receiver-operating characteristic curve analysis gave a sensitivity of 90.0% and a specificity of 88.0%. Area under the curve was 0.94. NPQ-SF-PL was moderately associated with self-completed Leeds Assessment of Neuropathic Symptoms and Signs (S-LANSS) and weakly associated with the Numerical Rating Scale (NRS). The NP group obtained statistically significantly lower scores than the NoP group in all domains of the 36-Item Short Form Health Survey (SF-36), thus indicating worse health status. Patients aged over 41 years presented a worse quality of life compared to younger ones. Also, more than half of the patients with NP of both genders experienced symptoms of mild or more severe depression.</p><p><strong>Conclusions: </strong>NPQ-SF-PL is a valid screening tool for assessing NP in Polish chronic pain patients. The obtained results showed very good psychometric properties and adequate internal consistency. The repeatability of the questionnaire indicated moderate reliability. Clinical implications/future directions. We believe this study will provide physicians with a new instrument for the evaluation of NP for clinical and research purposes.</p>","PeriodicalId":19132,"journal":{"name":"Neurologia i neurochirurgia polska","volume":" ","pages":""},"PeriodicalIF":2.9,"publicationDate":"2024-11-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142624792","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":"Whole exome sequencing-based testing of adult epilepsy in a Polish population.","authors":"Magdalena Mroczek, Dominika Szczęśniak, Karolina Ziora-Jakutowicz, Magdalena Kacprzak, Paweł Aleksandrowicz, Małgorzata Bednarska-Makaruk, Lidia Kotuła","doi":"10.5603/pjnns.101922","DOIUrl":"https://doi.org/10.5603/pjnns.101922","url":null,"abstract":"<p><strong>Aim of the study: </strong>Genetic panel testing in paediatric and mixed adult and children populations has demonstrated clinical utility and provided a diagnostic yield of 18-40%. The data on adult epilepsies is limited. We aimed to investigate the diagnostic yield and analyse genetic diagnoses in whole exome sequenced adult patients with epilepsies in Poland.</p><p><strong>Material and methods: </strong>We recruited 151 patients from 42 clinical centres across Poland. The patients had a diagnosis of epilepsy/ seizures, were 18 or older at the time of the genetic testing, and did not have a genetic diagnosis. All patients were tested with whole exome sequencing after an initial testing with a panel of 47 epilepsy-related genes.</p><p><strong>Results: </strong>We reached a diagnostic yield when considering pathogenic/probably pathogenic variants according to ClinVar of 8.6% (n = 13) and 17% (n = 26) when applying the American College of Medical Genetics (ACMG) criteria. Most patients had a pathogenic/probably pathogenic variant in epilepsy-related genes (54%), followed by potential epilepsy-related genes (19%), and neurodevelopment-associated epilepsy genes (15%).</p><p><strong>Conclusions: </strong>Our study shows that whole exome sequencing-based testing reaches a slightly higher diagnostic yield that the traditional 300 gene panel. Genes related to childhood onset neurodevelopmental disorders and epilepsy should be considered as well. Clinical implications/future directions. Patients may have had a diagnosis related to a childhood syndrome, but due to limited diagnostic possibilities, it was not possible to diagnose them in childhood. We would consider testing adult patients with epilepsy with whole exome or genome sequencing (or if not possible with a panel) in cases of a diagnosis of epilepsy with no hints suggesting secondary epilepsy, and especially with clinical features indicating a genetic epilepsy diagnosis, such as neurodevelopmental delay and early onset of seizures.</p>","PeriodicalId":19132,"journal":{"name":"Neurologia i neurochirurgia polska","volume":" ","pages":""},"PeriodicalIF":2.9,"publicationDate":"2024-11-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142605563","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":"Erdheim-Chester disease is often complicated by neurological disorders.","authors":"Josef Finsterer, Sounira Mehri","doi":"10.5603/pjnns.102491","DOIUrl":"https://doi.org/10.5603/pjnns.102491","url":null,"abstract":"","PeriodicalId":19132,"journal":{"name":"Neurologia i neurochirurgia polska","volume":" ","pages":""},"PeriodicalIF":2.9,"publicationDate":"2024-11-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142584006","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":"Safety and efficacy of short percutaneous fixation in AO3 and AO4 lumbar fractures: a single-centre experience of 35 cases.","authors":"Pierfrancesco De Domenico, Riccardo Paracino, Domenico Cassitto, Marilena Rolli, Alessandro Melatini","doi":"10.5603/pjnns.99238","DOIUrl":"https://doi.org/10.5603/pjnns.99238","url":null,"abstract":"<p><strong>Introduction: </strong>Spinal fractures with subsequent bone fragment dislocation are among the injuries most feared by patients and physicians. The surgical strategy is tailored to the individual patient's characteristics and often consists of pedicle instrumentation with rod-screw systems. Short instrumentation has been associated with worse spinal correction and increased complications. However, recent studies have suggested similar results in terms of kyphosis correction and the maintenance of sagittal alignment compared to longer instrumentation.</p><p><strong>Material and methods: </strong>This single-center retrospective study was conducted between January 2018 and April 2021. We included 35 single lumbar burst fractures AO Spine grade A3 or A4 with evidence of intra-canal fragments. Patients underwent minimally invasive percutaneous posterior lumbar instrumentation with pedicle screws. Patients received short segmental fixation involving only one level above and below the fractured vertebra.</p><p><strong>Results: </strong>An immediate postoperative computed tomography (CT) scan demonstrated a significant reduction in vertebral kyphotic deformation (11.7° ± 1.6 vs 16.7° ± 5, p<0.001) and sagittal Cobb angle (9.8° ± 1.3 vs 11.7° ± 1.5, p < 0.001). The correction was slightly reduced but remained significant at 12 months for both kyphotic (12.3° ± 1.4, p = 0.03) and sagittal Cobb (10.3° ± 0.9, p = 0.04). Upper lumbar vertebrae showed even larger correction indices compared to lower lumbar segments. No implant failure or screws pullout was seen at the last follow-up.</p><p><strong>Conclusions: </strong>Short spinal fixation is a safe and effective treatment of complete and incomplete burst fractures with posterior bone fragment dislocation. All included patients fared well and achieved good kyphotic correction with no perioperative or long-term complications.</p>","PeriodicalId":19132,"journal":{"name":"Neurologia i neurochirurgia polska","volume":" ","pages":""},"PeriodicalIF":2.9,"publicationDate":"2024-10-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142381347","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":"Predicting haemorrhagic transformation through serum biochemical indices for patients after endovascular treatment: a retrospective study.","authors":"Fang Wu, Qingyuan Wu, Qinji Zhou, Lina Zhang, Fei Yan, Yaping Xiao, Fanping Meng, Lei He, Zhenjie Yang, Chuyue Wu","doi":"10.5603/pjnns.97759","DOIUrl":"https://doi.org/10.5603/pjnns.97759","url":null,"abstract":"INTRODUCTION\u0000The aim of this study was to determine the serum biochemical markers that can predict the risk of haemorrhagic transformation (HT) before and after endovascular treatment (EVT).\u0000\u0000\u0000MATERIAL AND METHODS\u0000This study included patients with anterior circulation large vessel occlusion (ACLVO) who underwent EVT within six hours of symptom onset between September 2017 and September 2022. These patients were retrospectively categorised into two groups: an HT group and a No-HT group.\u0000\u0000\u0000RESULTS\u0000A total of 180 patients were included in the study, of whom 55 (30.6%) had HT. The monocyte count before EVT (p = = 0.005, OR = 0.694, 95% CI 0.536-0.898), the activated partial thromboplastin time before EVT (p = 0.009, OR = 0.186, 95% CI 0.699-0.952), and the eosinophil count after EVT (p = 0.038, OR = 0.001, 95% CI 0.000-0.018) were all found to be independent predictors of HT, with warning values of 6.65%, 22.95 seconds, and 0.035*10^9/L, respectively. When compared to prediction using only demographic data [AUC = 0.662,95% CI (0.545, 0.780)], adding biochemical indices before EVT [AUC = 0.719,95% CI (0.617, 0.821)], adding biochemical indices after EVT [AUC = 0.670,95% CI (0.566, 0.773)], and adding both [AUC = 0.778,95% CI (0.686, 0.870)], the prediction efficiency of HT was improved among all three combinations, with no statistical significance.\u0000\u0000\u0000CONCLUSIONS\u0000The levels of serum biochemical markers were found to show significant changes before and after EVT in ACLVO patients. A combination of demographic data and serum biochemical markers proved to be effective in predicting the occurrence of HT in patients with ACLVO who underwent EVT.","PeriodicalId":19132,"journal":{"name":"Neurologia i neurochirurgia polska","volume":"31 1","pages":""},"PeriodicalIF":2.9,"publicationDate":"2024-04-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140656102","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":"Two cases of delayed onset, fully reversible cortical oedema and signal intensity on brain MRI without infarction caused by prolonged migraine aura.","authors":"Roaa Zayat, Olga P Fermo","doi":"10.5603/pjnns.98031","DOIUrl":"10.5603/pjnns.98031","url":null,"abstract":"","PeriodicalId":19132,"journal":{"name":"Neurologia i neurochirurgia polska","volume":" ","pages":"210-214"},"PeriodicalIF":2.9,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140049978","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":"Management of autoimmune temporal lobe epilepsy with GAD65 antibody: four case reports.","authors":"József Janszky, Beáta Bóné, Kázmér Karádi, Péter Barsi, Vera Juhos, Anikó Berta, Csilla Gyimesi, Dalma Tényi, Réka Horváth","doi":"10.5603/pjnns.98738","DOIUrl":"10.5603/pjnns.98738","url":null,"abstract":"<p><strong>Aim of study: </strong>Glutamate decarboxylase (GAD) enzyme can be a target intracellular antigen in autoimmune focal epilepsy. GAD65 antibody is in found patients diagnosed with drug-refractory temporal lobe epilepsy (TLE). We explore the clinical features of the disease and therapeutic options.</p><p><strong>Material and methods: </strong>We present the cases of four TLE patients, two of them with type 1 diabetes. All of them were drug-resistant and therefore underwent presurgical evaluation, which revealed GAD65 antibody positivity. We discuss the four GAD65 antibody positive temporal lobe epilepsy patients' electroclinical data, the treatments, and their effectiveness.</p><p><strong>Results: </strong>One of them became seizure-free after right anterior temporal lobe resection, two of them did not show significant improvement with immunmodulatory agents, and the fourth patient with the shortest duration of disease had significant improvement in seizure status and normalisation of cognitive status with IVIg therapy.</p><p><strong>Conclusions and clinical implications: </strong>Our cases show that the earlier a GAD65 antibody is detected, the greater the chance of achieving seizure freedom or improvements in both seizure and cognitive status with immunomodulatory agents. However, in some cases, surgery may also bring seizure freedom, but with a risk of cognitive deterioration.</p>","PeriodicalId":19132,"journal":{"name":"Neurologia i neurochirurgia polska","volume":" ","pages":"453-458"},"PeriodicalIF":2.9,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141875429","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":"Preoperative embolisation of head and neck paragangliomas - a single-centre experience.","authors":"Paweł Szmygin, Maciej Szmygin, Tomasz Roman, Andrzej Kucharski, Tomasz Jargiełło, Radosław Rola, Marcin Szymański","doi":"10.5603/pjnns.99637","DOIUrl":"10.5603/pjnns.99637","url":null,"abstract":"<p><strong>Introduction: </strong>Paragangliomas are neuroendocrine tumours commonly located in the abdomen, thorax, head and neck. The definitive treatment for these tumours is surgical resection, which in some cases can be very challenging due to the involvement of critical neurovascular structures and their high vascularity. Therefore, pre-operative embolisation may be performed to reduce the risk of complications. This study aimed to present our experience with endovascular embolisation of head and neck paragangliomas (HNP).</p><p><strong>Material and methods: </strong>In this single-centre study, we reviewed data from consecutive patients with HNP who underwent pre-operative embolisation from 2017 to 2023. The efficacy of embolisation, the method of embolisation, as well as the rate of complications, were noted.</p><p><strong>Results: </strong>A total of 27 patients (15 females) with an average age of 47 years underwent selective embolisation of HNP. Satisfactory embolisation, defined as occlusion of > 75% of the blood supply, was achieved in 22/27 cases (81.5%). The most commonly used embolic agents included coils and microspheres. With the exception of minor vessel dissections in two patients and embolic agent migration in two patients causing reversible occlusion of the intracranial vessels, there were no other complications associated with embolisation. No neurological deficits occurred in relation to the endovascular procedure.</p><p><strong>Conclusions: </strong>The results of our study indicate that endovascular embolisation of HNP prior to surgical resection is a safe and efficacious procedure, with a relatively low complication rate and associated morbidity.</p>","PeriodicalId":19132,"journal":{"name":"Neurologia i neurochirurgia polska","volume":" ","pages":"490-497"},"PeriodicalIF":2.9,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141446628","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}