Neurologia i neurochirurgia polska最新文献

Introduction: An expert panel of the Section of Multiple Sclerosis and Neuroimmunology of the Polish Neurological Society has developed principles for the management of neuromyelitis optica spectrum disorders (NMOSD). These principles are based on expert opinion and data from the literature published up to May 2023. Recommendations were developed based on the results of the most recent clinical trials, guidelines of foreign and international scientific societies, and the authors' clinical experience.

Clinical implications: The principles for diagnosing NMOSD are discussed, with particular emphasis on serological and neuroimaging diagnosis. Recommendations for the treatment of relapses and chronic immunosuppressive treatment, including the most recent methods of immunotherapy, are also presented. Additionally, the principles of monitoring treatment efficacy and safety are included. Therapy regimens are completed with recommendations for symptomatic treatment. The paper also includes an algorithm for vaccination in patients with NMOSD. Therapeutic management in pregnant women with NMOSD is discussed.

Introduction: Multiple sclerosis (MS) is known to be an inflammatory disease of the central nervous system (CNS), with its typical neuropathological characteristics being demyelinating white matter lesions, relative preservation of axons, and astrogliosis. Although the criteria for MS diagnosis have been regularly updated, two main elements have remained unchanged: the obligatory proof for dissemination of pathological lesions in both time and space. However, not all presentations are clear, and doubts about the diagnosis sometimes arise. The central vein sign (CVS) is a neuroimaging feature that has attracted growing interest in terms of MS diagnosis, differentiation, and general management. The evidence regarding the use of CVS as an MS imaging marker has accumulated rapidly, with diverse CVS assessment rules being proposed for implementation into the diagnostic criteria.

Material and methods: We aimed to thoroughly assess the utility of CVS in MS management. A systematic review was conducted according to the Preferred Research Items for Systematic Reviews and Metanalyses (PRISMA 2020) guidelines. The PubMed and Embase databases were searched, and, after detailed analysis, 48 of the most recent studies were included in this review.

Results: Significant differences in terms of CVS positivity have been found between MS and its mimics. Moreover, CVS is able to distinguish patients with radiologically isolated syndrome (RIS) from subjects with non-MS conditions. Furthermore, some of the analysed studies have reported a promising performance of CVS rules in MS diagnosis.

Conclusions: The results of the reviewed studies are undoubtedly encouraging, reinforcing CVS's role as a valuable tool in multiple sclerosis management.

Aim of study: To compare transient ischemic attack (TIA), transient global amnesia (TGA), and transient ischemic attack with lesions found in magnetic resonance imaging/diffusion-weighted imaging (MRI-DWI) scans, in order to find similarities and differences in their clinical picture.

Clinical rationale for study: Magnetic resonance imaging scans account for a substantial part of the financial burden associa-ted with cerebrovascular events. Finding initial clinical features that differentiate transient brain ischemic events will be useful in developing standardized procedures for selecting patients who require further radiological imaging, thereby reducing overall costs.

Material and methods: A total of 9701 patients hospitalized in two major tertiary hospitals in the Silesian voivodeship in Poland between January 2016 and July 2024 with a diagnosis of TGA, TIA, and ischemic stroke were analyzed. The final group consisted of 947 patients, who were further divided into three categories: 425 TIA (44.87%), 125 TGA (13.19%), and 387 TIA with MRI-DWI lesions (41.92%). The data of patients were statistically analyzed.

Results: Patients with transient focal symptoms and confirmed DWI lesions in MRI scans were significantly older. They were more likely to have coronary heart disease, had higher C-reactive protein (CRP) levels, more severe symptoms, and were less likely to receive antiplatelet treatment than TGA and TIA patients. Transient global amnesia patients had higher systolic blood pressure on admission compared to other groups.

Conclusions: The presence of DWI-MRI lesions is associated with a higher initial clinical burden. Our results confirm that the lack of stroke prevention therapies may have determined the more severe course of the vascular event. This study supports a sudden rise in blood pressure being a contributing factor in TGA patients.

Clinical implications: Older patients with TIAs, having several vascular risk factors, but lacking prevention therapies are likely to present with cerebral lesions on DWI-MRI. These patients should undergo additional imaging procedures.

Introduction: Fatigue is one of the most common and distressing non-motor symptoms in Parkinson's disease, affecting up to half of patients. As a multidimensional symptom - encompassing physical, emotional, and cognitive aspects - it significantly reduces quality of life and daily functioning. It often appears in the early stages of the disease, and its subjective nature complicates its clear clinical definition. Despite its importance, fatigue is often underdiagnosed and rarely considered in routine care.

Clinical rationale for the study: Fatigue in Parkinson's disease is often an underestimated symptom, despite its significant impact on quality of life and daily functioning, often more so than motor symptoms. Its impact on physical activity - a key factor in slowing disease progression - underscores the need to better recognize and incorporate this symptom into clinical practice. The study results may support the development of more effective and personalized therapeutic strategies.

Material and methods: The study included 107 patients with Parkinson's disease (PD), with Hoehn and Yahr scale (H&Y) disease stages I [n = 13 (12%)], II [n = 15 (14%)], III [n = 53 (50%)], and IV [n = 25 (23%)]; ages ranged from 35 to 86 years; and disease duration ranged from 0 to 33 years (Median = 7.00 years). The study tool was a questionnaire. Fatigue levels were assessed using two scales: the Parkinson's fatigue scale (PFS-16) and the fatigue severity scale (FSS). Physical activity and quality of life were examined with the Parkinson's disease questionnaire (PDQ-39).

Results: The questionnaires used (FSS, PFS, PDQ-39) demonstrated high reliability (Cronbach's alpha: 0.93-0.96) and no floor/ /ceiling effects. Fatigue was reported in 57% of the participants, slightly more often in women, although the differences were not statistically significant. Disease duration was significantly longer in men (p < 0.01). Fatigue correlated with activity level (p < 0.01) and quality of life across all PDQ-39 domains.

Conclusions: Fatigue is a common and significant problem across all stages of Parkinson's disease. The FSS, PFS, and PDQ-39 questionnaires are reliable tools for assessing fatigue in people with PD. Fatigue has a significant impact on quality of life and activity levels. Further, multifaceted research is needed to clarify this issue.

Aim of the study: 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.

Clinical rationale for the study: 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.

Material and methods: 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).

Results: 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.

Conclusions: 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.

Aim of study: Idiopathic intracranial hypertension (IIH) is a neurological condition characterised by increased intracranial pressure without a known cause, usually seen in young obese women. Optic nerve ultrasound elastography is a new imaging technique that evaluates the elastic properties of the optic nerve. In this method, deformations caused by mechanical forces applied on the optic nerve are measured using ultrasound waves and the elastic properties of the optic nerve are analysed. This study aimed to evaluate optic nerve (ON) and retrobulbar adipose tissue (RAT) elasticity, optic nerve sheath diameter (ONSD), and optic disc height (ODH) in patients with IIH.

Clinical rationale for study: Demonstration of structural changes in the optic nerve in IIH patients.

Material and methods: In this prospective study, bilateral ON and optic disc measurements were performed in 30 consecutive patients with IIH and 30 age- and sex-matched healthy volunteers. ONSD, ODH, and SWE (shear wave elastography) of the ON, and SWE of the RAT, were measured.

Results: Of 30 patients with IIH, 26 were female and four were male. The mean age of the patients diagnosed with IIH was 37.9 ± 9.9 years and the mean age of the control group was 38.9 ± 10.5 years (p = 0.594). Similarly, no significant difference was found between the two groups in terms of body mass index (BMI): the mean BMI of the patients was 30.8 ± 5.51 and the mean BMI of the control group was 29.6 ± 4.7 (p = 0.214). In the patients, mean ONSD (4.8 ± 1.4 mm), ODH (1.04 ± 1.06 mm), ON SWE [14.7 (4.57-100.7) kPa], and RAT SWE [4.05 (1.6-11. 3) kPa] significantly differed from those in the control group: ONSD (3.1 ± 0.4 mm), ODH (0.4 ± 0.09 mm), ON SWE [10.3 (4.8-42.9) kPa], and RAT SWE [3.58 (1.5-16.7) kPA] (p = 0.001, p = 0.001, p = 0.01, p = 0.033, respectively). The cut-off values for ONSD, ODH, ON SWE and RAT SWE to discriminate IIH patients from controls were 3.5 mm, 0.5 mm and 11.37 kPa and 3.63 kPA, respectively, areas under the curve (AUC) were 0.888, 0.892, 0.67 and 0.613, respectively, and accuracy values were 80%, 81%, 61% and 60%, respectively.

Conclusions: ON SWE, RAT SWE, ONSD and ODH measurements may be helpful in the diagnosis of IIH in addition to current imaging methods.

Clinical implications: We observed structural changes in the optic nerve and surrounding fatty tissue in IIH, and these factors should be taken into account in future diagnosis and treatment.

Aim of the study: 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.

Material and methods: 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.

Results: 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%).

Conclusions: 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.

Aim of study: We aimed to assess the impact of acute kidney injury (AKI) during hospitalisation on short- and long-term outcomes of mechanical thrombectomy (MT) in patients with acute ischaemic stroke (AIS).

Clinical rationale for study: AKI is a common complication in AIS patients treated with MT. Some studies examining its impact on prognosis have shown an association of AKI with worse MT outcomes, but observations exceeding three months are lacking.

Material and methods: To this observational cohort study, we included all AIS patients treated with MT in the University Hospital in Krakow from 2019 to 2021. AKI during hospitalisation was diagnosed based on serum creatinine concentration levels according to the KDIGO (Kidney Disease Improving Global Outcomes) guidelines. We compared patients with and without AKI in terms of mortality and functional outcome (assessed with modified Rankin scale, mRS) at discharge, and at 90 and at 365 days from stroke onset. Good functional outcome was defined as mRS 0-2. We identified factors associated with mortality and a good functional outcome using univariate logistic regression analysis, with statistically significant variables subsequently included into multivariate analyses.

Results: Among 593 MT-treated AIS patients, AKI was found in 12.6%. Patients with AKI had significantly higher mortality and worse functional outcome at discharge, and at 90, and at 365 days from stroke onset. AKI was an independent factor associated with mortality and worse functional outcome at discharge, and at 90, and at 365 days from stroke onset. AKI remained independently associated with a lower chance of a good functional outcome in a 365-day follow-up when the analysis was limited to patients who survived until discharge (OR = 0.244, 95% CI: 0.095-0.624, p = 0.003).

Conclusions and clinical implications: AKI during hospitalisation is an independent risk factor of short- and long-term mortality and poor functional outcome in patients with AIS undergoing MT. There is a need to create a protocol to monitor kidney function and ensure prompt AKI treatment in MT-treated AIS patients.