Neurologia i neurochirurgia polska最新文献

Introduction: Malignancies may coexist in patients with chronic inflammatory demyelinating polyradiculoneuropathy (CIDP), possibly indicating shared immune mechanisms or risk factors. This study aimed to assess the frequency of cancer in patients with CIDP and the clinical characteristics of CIDP subgroups with and without cancer.

Material and methods: The study included 61 patients with CIDP (mean age 61.6 ± 11.8 years). Cancer was diagnosed after CIDP in 14 cases (23%). Diagnostic parameters: clinical, biochemical and electrophysiological, and their correlations were analyzed in patients with and without cancer.

Results: At chronic inflammatory demyelinating polyradiculoneuropathy diagnosis, the mean inflammatory neuropathy cause and treatment (INCAT) score was 2.29 ± 1.68 in the cancer group and 2.21 ± 1.81 in the non-cancer group (p = 0.891). At cancer diagnosis, the scores were 2.79 ± 1.81 vs. 2.40 ± 1.73, respectively (p = 0.489). Immunoglobulin levels were more variable in cancer patients, especially immunoglobulin M (IgM), although the differences were not significant. Cerebrospinal fluid (CSF) protein levels averaged 102.04 mg/dL in cancer patients and 92.67 mg/dL in those without cancer. In CIDP patients with cancer, a strong negative correlation was found between peroneal nerve motor latency and the INCAT score (r = -0.58). In those without cancer, CSF protein levels positively correlated with compound muscle action potentials (CMAP) latency and negatively with conduction velocity in both the ulnar and peroneal nerves.

Conclusions: While not statistically significant, trends indicate that malignancy in CIDP may be linked to a more aggressive disease course, distinct immune profiles, and alternative pathogenic mechanisms, warranting further investigation into targeted therapies.

Introduction: Distal hereditary motor neuropathies (dHMNs) are a clinically and genetically diverse group of rare neuromuscular disorders characterized by progressive distal muscle weakness and atrophy, often with early onset and sparing of sensory function. One subtype, Jerash-type dHMN (dHMNJ), is caused by biallelic mutations in the SIGMAR1 gene and presents with pyramidal signs in addition to distal weakness.

Material and methods: A literature review was conducted by searches of the MEDLINE and PubMed databases using selected terms. Relevant original articles, case reports, case series, and reviews were selected as data sources.

Discussion: SIGMAR1-related disorders (SIGMAR1-RD) encompass a broad clinical spectrum including dHMN and juvenile amyotrophic lateral sclerosis (ALS) phenotypes. The Sigma-1 receptor plays a key role in cellular stress responses, ER-mitochondria interaction, and neuronal survival. Clinical presentation often includes distal muscle weakness and atrophy with pyramidal signs.

Pathogenic variant reported by authors: We present a 12-year-old boy with distal muscle weakness, foot drop, and pyramidal signs. Genetic testing identified a homozygous c.247T > C (p.Phe83Leu) SIGMAR1 variant, previously classified as a variant of uncertain significance (VUS).

Conclusion: This article supports the pathogenicity of the c.247T > C (p.Phe83Leu) SIGMAR1 variant and underlines the need for broader genetic testing in hereditary motor neuropathies.

Introduction: To assess the potential benefit of artificial intelligence (AI) based imaging software in supporting mechanical thrombectomy (MT) transfer decisions in patients with acute ischemic stroke (AIS) referred from low-volume primary stroke centers (PSCs).

Clinical rationale for the study: Many MT-eligible patients are initially managed in PSCs, which often lack advanced imaging capabilities, stroke imaging expertise, and efficient interhospital image transfer systems. Artificial intelligence-based tools for automated large vessel occlusion (LVO) detection have shown promising results in improving stroke workflow metrics, yet data from low-volume PSCs remain limited.

Material and methods: This study presents a multicenter, retrospective analysis of 109 AIS patients transferred for anterior circulation LVO MT from five low-volume PSCs in Poland over a 53-month period (≤ 1 MT transfer/center/month). Standard imaging was retrospectively assessed using Brainomix 360 (Brainomix USA Inc., Chicago, USA) to assess early ischemic changes, collateral status, and LVO location. Two blinded vascular neurologists independently simulated transfer decisions based on post-processed imaging. Large vessel occlusion detection sensitivity and potential changes in transfer eligibility were analyzed. The workflow time parameters were compared to the comprehensive stroke center (CSC) cohort with a routine AI-assisted evaluation (n = 69). The maximal expected time benefit from AI implementation was also estimated.

Results: Artificial intelligence-based sensitivity for anterior circulation LVO detection was 83.5% [95% confidence interval (CI) 76.5-90.5], significantly higher for M1 than for internal carotid artery (ICA) occlusions (95.2% vs. 63.9%, p < 0.01). Among included patients, 78.9% (95% CI 70.3-85.5) were simulated as eligible and could potentially benefit from shorter workflow times. This is supported by the significantly shorter computed tomography angiography (CTA) to endovascular treatment (EVT) notification time in the CSC cohort with routine AI-assisted imaging compared with the low-volume PSC (11 vs. 48 min, p < 0.01). The median maximal potential reduction in door-in-door-out (DIDO) time was estimated at 30 min [interquartile range (IQR) 4-45). In contrast, 4.6% (95% CI 2.0-10.3) individuals were reclassified as ineligible due to extensive early ischemic changes and poor collaterals, potentially avoiding futile transfer.

Conclusions: Artificial intelligence-assisted imaging may significantly improve transfer decisions and workflow efficiency in low-volume PSCs, particularly in settings without real-time radiological interpretation. Its broader adoption may strengthen MT eligibility assessment within regional stroke networks.

Introduction: Exposure to heavy metals has long been considered a potential risk factor for neurodegenerative diseases.

State of the art: Most existing studies include in vitro and animal models, and research involving human subjects has yielded conflicting results, obscuring the overall understanding of this topic.

Aims of the study: In this article, the aim is to clarify the situation by carefully reviewing and categorizing the available body of knowledge in this field. Specifically, the focus is on research that explores the relationship between mercury exposure and common neurodegenerative diseases.

Conclusions: Despite its neurotoxic properties, results show that mercury is not associated with frequent neurodegenerative disorders.

Aim of the study: We aimed to analyze cases of cerebrospinal fluid (CSF) rhinorrhea/fistula emerging after dopamine agonist (DA) therapy in patients with giant prolactinomas, and to identify clinical patterns and treatment strategies. We also sought to contextualize our findings through a systematic review of published cases.

Clinical rationale for the study: Dopamine agonist therapy is first line for prolactinomas; however, in invasive macroadenomas, rapid shrinkage may unmask skull base defects, leading to CSF leaks and infections like meningitis. These rare but critical events lack standard treatment protocols.

Material and methods: We reviewed six prolactinoma cases with post-cabergoline CSF rhinorrhea (2010-2024) and conducted a PubMed-based review (1980-2024) to compare clinical and treatment features.

Results: In our series (mean age: 49.3 years) CSF rhinorrhea developed between 14 and 420 days after therapy initiation. The sellar floor was the most frequent defect site (5 of 6 patients). All patients required surgical or CSF diversion procedures, including transsphenoidal or transcranial repair, external ventricular drainage, lumbar drainage, or ventriculoperitoneal shunting. One case resulted in fatal meningitis. The literature review included 68 cases across 33 studies. The median time to CSF leak onset was 90 days (range: 7-1460 days). Surgical repair, particularly transsphenoidal, was the most common treatment. Recurrence occurred in 25/55 cases (45.5%) and meningitis in 6/59 cases (10.2%); outcome data were not available for all patients.

Conclusions and clinical implications: Skull base erosion and rapid tumor shrinkage are major contributors. Our findings support early recognition, dose titration of DA therapy, close radiological follow-up, and timely surgical intervention. Further studies are needed to define risk stratification and evidence-based treatment protocols.

Introduction: Non-motor symptoms of Parkinson's disease (PD), particularly visual disturbances, often appear before a formal diagnosis and may serve as early signs or prodromal features of the disease. This review aims to evaluate ocular biomarkers associated with prodromal and early-stage PD, highlighting ophthalmic indicators that could support earlier diagnosis and aid in tracking disease progression.

Material and methods: PubMed and Scopus databases were systematically searched for all records available from their inception through May 2024, in accordance with the Preferred Reporting Items for Systematic Reviews and Meta-Analyses statement extension for Scoping Reviews (PRISMA-ScR) guidelines. Two distinct PICO (PICO stands for Population, Intervention, Control, Outcome) frameworks were employed to guide the selection criteria: one for people with early Parkinson's disease and another for individuals at risk of prodromal PD.

Results: 30 studies were included - 4 solely on prodromal cohorts (RBD), 18 on patients with PD and 8 studies with both prodromal and clinical cohorts. Studies of people with RBD have shown abnormalities in pupillary light reflex, eye movements, and color discrimination. People with early PD showed impaired contrast sensitivity, impaired color discrimination, retinal structural changes, including retinal thinning (in the inner nuclear layer and ganglion cell-inner plexiform layer, altered pupillary responses, visual hallucinations, and ocular movement disorders).

Conclusions: Impairment of both color and contrast vision, as well as changes in optical coherence tomography (OCT), correlate with disease severity and cognitive decline. They can serve as an early, safe, noninvasive biomarker of neurodegeneration.

Rationale for the study: Burnout syndrome is a prolonged response to chronic work-related stress, characterized by exhaustion accompanied by mental and physical discomfort, a sense of reduced effectiveness and motivation, dysfunctional attitudes and behaviors at work. Neurologists are recognized as a high-risk group, but no large-scale study has previously examined burnout in this professional group in Poland.

Aim of the study: This study aimed to determine the prevalence of burnout among Polish neurologists and to identify individual and organizational predictors, as well as perceived work-related barriers to effective practice.

Material and methods: A cross-sectional online survey [Computer-Assisted Web Interview (CAWI)] was conducted among members of the Polish Neurological Society (n = 342). Burnout was assessed using the Oldenburg Burnout Inventory (OLBI), alongside validated measures of depressive symptoms, insomnia, loneliness, occupational hardiness, occupational self-efficacy, and psychosocial work conditions. Multiple linear regression analyses were performed to identify predictors of the dimensions of burnout: exhaustion and disengagement.

Results: A high prevalence of burnout was found: 87.0% of respondents met the criteria for exhaustion and 77.5% for disengagement. Being of a younger age was a predictive factor for exhaustion, while living in a larger city slightly reduced disengagement. Severity of depression and work pace were significant predictors of higher levels of both burnout dimensions. More severe exhaustion was additionally associated with higher emotional and quantitative job demands, insomnia, and - unexpectedly - greater peer support. Protective factors included workplace commitment, occupational self-efficacy, professional development opportunities, and occupational hardiness. The most frequently cited barriers in the workplace were administrative overload (85.4%), high work pace (64.0%), and staff shortages (56.7%).

Conclusions: Burnout is highly prevalent among Polish neurologists, driven by both individual vulnerabilities (belonging to a younger age group, depression, insomnia) and organizational stressors (workload, administrative burden). Strengthening professional resources such as self-efficacy and hardiness, enhancing career development opportunities, and reducing bureaucratic workload are essential strategies. Targeted interventions are needed, particularly for early-career neurologists, in order to maintain well-being and ensure sustainable neurological care.

Introduction: To evaluate the long-term follow-up in patients with multiple sclerosis (MS) with positive John Cunningham virus (JCV) index treated with natalizumab.

Clinical rationale for the study: The prognosis in MS patients with positive JCV index in short-term follow-up is frequently analyzed; however, it is still not clear what the long-term outcomes in these patients are.

Material and methods: We performed retrospective chart review in MS patients with positive JCV index treated with natalizumab in the Department of Neurology, Medical University of Warsaw. According to the progressive multifocal leukoencephalopathy (PML) risk stratification algorithm established for MS patients treated with natalizumab, we have divided the patients included in our study into the following subgroups according to the JCV index results: JCV Index < 0.9, 0.9-1.5, > 1.5.

Results: We have included 42 patients in our study, 28 females (67%), aged 42.9 ± 9.6 years, with mean disease duration of 13 ±7.07 years and median time of natalizumab therapy of 35 months. The most frequent indication for natalizumab use was lack of efficacy of disease-modifying drug (DMD) previously used (n = 29, 69%). The median extended disability status scale (EDSS) at the moment of last evaluation was 3.0 (range 0.0-8.5). In 14 patients (33.3%), the extended-interval dosing (EID) algorithm was implemented, while frequent brain magnetic resonance imaging (MRI) was done in 15 cases (36%). In one case, natalizumab-related serious adverse event (SAE) occurred, which was PML, but the patient survived and improved with time. When it comes to the number of patients belonging to each of the JCV subgroups, 18 (43%) were in the group with JCV index of < 0.9, 8 had intermediate JCV index (19%) and 16 (38%) had the JCV index > 1.5. There were no statistically significant differences concerning demographic data between the group with the lowest and moderate JCV index, only patients with the highest JCV index (> 1.5), were characterized by the highest disease duration (p = 0.0072). The EID algorithm was used in these cases significantly more frequently (p = 0.0023) than in the group with the lowest JCV index. Also, frequent MRI was performed significantly more often in this group (p = 0.0085). In the first group (JCV < 0.9), average variation of JCV index was between 0.17 and 0.34, in the second group (JCV 0.9-1.5) - between 1.03 to 1.54, and in the third group - between 2.6-2.8.

Conclusions: Based on our data, it can be concluded that long-term therapy with natalizumab seems to be safe, even in patients with positive JCV index.

Clinical implications: Natalizumab can be used for long-term treatment of patients with MS even with positive JCV index if recommended precautions such as EID and frequent brain MRIs are followed.

No abstract is required in Letter to the Editors.