Neurologia i neurochirurgia polska最新文献

Introduction: Multiple sclerosis (MS) is a central nervous system (CNS) disease associated with inflammation, demyelination, and neurodegeneration. It affects more than 2 million people globally, and usually occurs in young adults, three-quarters of whom are women. Importantly, accurate diagnosis and treatment are essential, as this disease can lead to the rapid development of disability. The choroid plexus (CP) is a structure widely known as the main cerebrospinal fluid source. However, it is also involved in immune cell trafficking to the cerebrospinal fluid, which is increased in different neurological disorders, particularly those associated with neuroinflammation. As MS is generally thought to be caused by an autoimmune process, it has been suggested that the choroid plexus may play a significant role in its pathogenesis, manifesting via changes in imaging characteristics.

Material and methods: Although research regarding this topic has been very limited, the results of the available studies appear promising. To further investigate this subject, we performed a systematic literature review according to the PRISMA 2020 guidelines. The PubMed and Embase databases were searched for relevant articles, and after thorough analysis, 16 studies were included in our review.

Results: CP volume was significantly increased in MS patients compared to healthy individuals. Furthermore, some studies found that CP enlargement occurs even before a definite diagnosis. Moreover, a few articles reported correlations between CP volume and brain atrophy, or even disease severity.

Conclusions: Our findings show that CP imaging has the potential to become a novel and valuable tool in multiple sclerosis management.

Introduction: In Poland, not all forms of device-aided therapies for advanced Parkinson's Disease (APD) are currently available.

Material and methods: We aimed to produce a consensus recommendation from Polish movement disorders experts after discussing gaps in the APD care pathway in Poland.

Results: Rescue therapy with apomorphine (APO) PEN injection and levodopa-entacapone-carbidopa intestinal gel infusion are not included in Poland's Specialist Therapeutic Programme, and are thus not reimbursed. For APO infusion, only the medication is reimbursed but not the device.

Conclusions: Consensus expert opinion is that APD patients in Poland would benefit from additional reimbursement access to these treatment options to improve APD patient care.

The treatment of multiple sclerosis (MS) has undergone significant changes since the first disease-modifying therapy (DMT) drug was introduced. Currently, 19 original DMT drugs are registered in the European Union. The choice of optimal therapy is becoming increasingly challenging in the absence of reliable biomarkers on the basis of which disease progression and prognosis can be determined. In addition, longer availability and a growing number of drugs used in MS mean that doctors and patients may have to change therapy when the treatment is ineffective or is associated with the occurrence of adverse effects. The ageing of the MS population, comorbidities, and administration of other drugs during DMT should also be considered. This paper presents recommendations for initiating, monitoring, changing and possibly discontinuing DMT.

Multiple sclerosis is a demyelinating disease of the central nervous system (CNS), and the most common cause of neurological disability in young adults. Thanks to years of intensive research, the disease can now be largely controlled by disease-modifying treatment (DMT), of which the mode of action is mostly immunomodulatory and/or immunosuppressive. For years, balancing the benefits and risks of DMT by escalating only after a suboptimal response has been the recommended course of action. However, this approach may be insufficient, especially in a subset of patients with aggressive disease course and rapid accrual of disability. Currently, highly effective therapies (HET) are often recommended as first-line treatment, even for patients with relatively good prognostic factors. This is debatable given the relatively higher risks, and costs, associated with HET. Therefore, establishing the true risk of aggressive MS course would aid clinicians in balancing the benefit-risk ratio for individual patients. The aim of this narrative review was to summarise and evaluate research on aggressive multiple sclerosis, with a special focus on the most relevant findings and identifying gaps in our knowledge in this field.

Introduction: This study aimed to identify predictors of 90-day good functional outcome (GFO) in patients with acute ischaemic stroke (AIS) who were treated with mechanical thrombectomy but did not achieve a delayed neurological improvement (DNI).

Clinical rationale for the study: In-hospital neurological improvement in patients with AIS is consistently associated with long- -term GFO. Patients who experience neither early nor delayed neurological improvement can still achieve long-term GFO, but predictors of such an outcome have not been studied.

Material and methods: This single-centre retrospective study involved 307 patients with anterior circulation AIS treated with mechanical thrombectomy. Multiple clinical, biochemical, radiological, and treatment-related variables were collected and analysed. DNI on day 7 was defined as at least a 10-point reduction in the National Institutes of Health Stroke Scale (NIHSS) score or NIHSS score < 2. GFO on day 90 was defined as a modified Rankin Scale (mRS) score ≤ 2. We compared the characteristics of patients with and without DNI, with special attention paid to patients who achieved 90-GFO despite a lack of DNI. Multivariate analyses were then performed to establish independent predictors of 90-day GFO among patients without DNI.

Results: DNI occurred in 150 out of 307 patients (48.7%) and significantly increased the odds for 90-day GFO (odds ratio [OR]: 13.99; p < 0.001). Among patients without DNI, 41.4% achieved 90-day GFO. Younger age (OR: 0.96; 95% confidence interval [CI]: 0.93-0.99; p = 0.008), lower baseline NIHSS score (OR: 0.80; 95% CI: 0.73-0.89; p < 0.001), treatment with intravenous thrombolysis (OR: 3.06; 95% CI: 1.25-7.49; p = 0.014), lack of an undetermined aetiology (OR: 0.40; 95% CI: 0.16-0.998; p = 0.050), lack of pneumonia (OR: 0.08; 95% CI: 0.02-0.31; p < 0.001), and higher haemoglobin concentration on admission (OR: 1.31; 95% CI: 1.04-1.69; p = 0.024) were identified as predictors of 90-day GFO in this subgroup.

Conclusion: Almost half of patients with AIS in anterior circulation treated with mechanical thrombectomy experience DNI, which is a good predictor of 90-day GFO. Furthermore, 40% of patients without DNI achieve 90-day GFO which can be independently predicted by younger age, lower baseline NIHSS score, treatment with intravenous thrombolysis, higher haemoglobin concentration on admission, lack of undetermined ischaemic stroke aetiology, and lack of pneumonia.

Introduction: Cognitive impairment occurs from the earliest stages of multiple sclerosis (MS) and progresses over time. The introduction of disease modifying therapies (DMTs) has changed the prognosis for MS patients, offering a potential opportunity for improvement in the cognitive arena as well.

Material and methods: 41 patients with relapsing-remitting multiple sclerosis (MS) were recruited to the study. Thirty patients were available for final follow-up and were included in the analysis. Baseline (BL) brain MRI including volumetry and neuropsychological tests were performed. Blood samples were collected at BL and follow-up (FU) and were tested for: vascular endothelial growth factor (VEGF), soluble vascular cell adhesion molecule-1 (sVCAM1), soluble platelet-endothelial CAM-1 (sPECAM1), and soluble intercellular CAM-1 (sICAM-1). Patients were invited for a final neuropsychological follow-up after a median of 6 years. Disease activity (relapses, EDSS increase, new/active brain lesions on MRI) was analysed between BL and FU.

Results: The study group deteriorated in the Rey-Osterrieth Complex Figure (ROCF) test (p = 0.001), but improved significantly in three other tests, i.e. semantic fluency test (p = 0.013), California Verbal Learning Test (CVLT, p = 0.016), and Word Comprehension Test (WCT, p < 0.001). EDSS increase correlated negatively with semantic fluency and WCT scores (r = -0.579, p = 0.001 and r = -0.391, p = 0.033, respectively). Improvements in semantic fluency test and WCT correlated positively with baseline deep grey matter, grey matter, and cortical volumes (p < 0.05, r > 0). Higher EDSS on FU correlated significantly negatively with baseline left and right pallidum, right caudate, right putamen, right accumbens, and cortical volume (p < 0.05, r < 0). No significant relationship was found between the number of relapses and EDSS on FU or neuropsychological deteriorations. Improvements in WCT and CVLT correlated positively with baseline sPECAM1 and sVCAM1 results, respectively (r > 0, p < 0.05). Deterioration in ROCF test correlated significantly with higher levels of baseline VEGF and sVCAM1 (p < 0.05).

Conclusions: Brain volume is an important predictor of future EDSS and cognitive functions outcome. MS patients have a potential for improving in neuropsychological tests over time. It remains to be established whether this is related to successful disease modification with immunotherapy. Baseline volumetric measures are stronger predictors of cognitive performance than relapse activity, which yet again highlights the importance of atrophy in MS prognosis.

Introduction: ADCY5-related dyskinesia is a rare neurological disease caused by mutations in the gene encoding the adenylyl cyclase 5 (ADCY5) isoform, a protein that plays an important role in intracellular transmission. Variants in ADCY5 are associated with a spectrum of neurological disease encompassing dyskinesia, chorea, and dystonia. State of the-art. ADCY5 mutations result in clinically heterogeneous manifestations which comprise a range of core and less to highly variable symptoms. Due to the heterogeneous nature and difficulty in diagnosis of the disorder, available treatments are highly limited.

Clinical implications: ADCY5-related dyskinesia was reported in 52 individuals in the literature over a five-year period (January 2017 to January 2022). We have listed all the symptoms and their frequency. The most common symptom reported in these patients was dystonia. Over 50% of patients developed dyskinesia and chorea. We report two cases of familial occurrence of symptomatic ADCY5-related dyskinesia. A 45-year-old patient presented with involuntary movements which had been occurring since childhood. The proband's neurological examination revealed dysarthria, involuntary myoclonic twitches, and choreic movements. The patient's 9-year-old son had developed involuntary movements, mainly chorea and dystonia.

Future directions: This paper aims to summarise the recent literature on ADCY5-related neurological disorders and to present a new case of a Polish family with ADCY5 mutation. Genetic diagnostics are important in the context of possible future targeted treatments.

Introduction: Assessment of the clinical course, neuroimaging and histopathological changes suggests that multiple sclerosis (MS) should not be defined merely as a focal inflammatory disease of the central nervous system (CNS) because the essence of the disease is due to a diffuse, 'smouldering', pathophysiological process.

State of the art: Progression independent of relapse activity (PIRA) is the clinical indicator of smouldering MS. Multiple pathomechanical factors determining smouldering MS have been identified, i.e. continuous activation of microglia, which is the source of smouldering inflammation and the failure of remyelination in MS.

Clinical implications: Our paper presents new neuroimaging markers, including paramagnetic rim lesions (PRLs) and slowly expanding lesions (SELs), potential methods for clinical evaluation and promising therapeutic options, i.e. Bruton's tyrosine kinase inhibitors that prevent PIRA in smouldering MS. With the duration of MS, the efficacy of the current immunomodulatory treatment is reduced, and its effect is insufficient to control smouldering MS.

Future directions: Innovative insights into the pathophysiology and clinical course warrant the need for a holistic approach to MS. The efforts of clinicians should be aimed at indicating subtle neurological deficits in physical performance and cognitive functioning to characterise the disease progression in its early stages. Undoubtedly, a new era for MS is coming in which new resonance markers will be used together with clinical methods to assess smouldering MS, and the treatment will include combination therapy with consideration of drugs that reduce relapse rates and therapy aimed at inhibiting disease progression.

Aim of study: We aimed to compare knowledge, opinions, and clinical experiences among Czech, Slovak, and Italian neurologists to identify potential educational gaps and unify understanding.

Clinical rationale for study: Functional neurological disorder (FND) is a disabling condition characterised by motor, sensory, or cognitive symptoms which are incompatible with other neurological disorders. Novel diagnostic and treatment approaches have improved FND management. However, the extent of their adoption, and any differences or similarities across European communities, remain to be established.

Material and methods: Members of the Czech and Slovak Neurological Societies were invited via e-mail to participate in a 14- -item web-based survey investigating their approach to FND. This data was compared to results from a previous study involving 492 Italian neurologists.

Results: 232 questionnaires were completed by Czech and Slovak neurologists (CZ-SK). Similarities were found between CZ- -SK and Italian neurologists in their preference for the term 'FND' over other psychological-related terms and in explaining symptoms as due to abnormal functioning of the nervous system rather than attributing them to mental illness. However, only fewer than 5% in both groups thought that simulation was highly unlikely. Both groups reported relying on positive signs (e.g. inconsistency, distractibility) according to the current diagnostic criteria, but also a tendency to perform additional tests to exclude other causes. However, some differences were observed: Italian neurologists placed a greater emphasis on psychological factors including litigation. CZ-SK neurologists were more likely to suggest physiotherapy as a treatment option and to provide educational intervention for patients and their relatives.

Conclusions: Overall, our findings suggest that although Czech, Slovak, and Italian neurologists have adopted some new developments in the field of FND, significant gaps still exist in their understanding and common practices regarding conceptualisation, diagnosis, and treatment.

Clinical implications: Our results suggest that promoting knowledge through postgraduate curricula and teaching courses for neurologists is necessary to optimise patient management in various European countries.