Neurologia i neurochirurgia polska最新文献

{"title":"Assessment of acute neuronal injury in critical illness: prognostication in septic shock patients - preliminary study in a Polish population.","authors":"Michał P Pluta, Piotr F Czempik, Joanna Natorska, Łukasz J Krzych","doi":"10.5603/pjnns.99042","DOIUrl":"10.5603/pjnns.99042","url":null,"abstract":"<p><strong>Introduction: </strong>Sepsis-associated brain dysfunction is a common organ dysfunction in sepsis. The main goal of this study was to verify whether the combined assessment of central nervous system injury markers (i.e. S100B, NSE, GFAP) and disease severity as per the Acute Physiology and Chronic Health Evaluation II (APACHE II), Simplified Acute Physiology Score II (SAPS II), and Sequential Organ Failure Assessment (SOFA) classification systems, would increase the accuracy of death prediction in septic shock.</p><p><strong>Material and methods: </strong>Markers of neuronal damage were determined in 55 patients diagnosed with septic shock with no previous neurological disease. Clinical data was collected and the scores on the APACHE II, SAPS II and SOFA prognostic scales were calculated. Death before discharge from the Intensive Care Unit (ICU) was established as the endpoint.</p><p><strong>Results: </strong>Nineteen patients (35%) died before ICU discharge. Patients who died had significantly higher S100B and NSE values, and APACHE II, SAPS II and SOFA scores (P< 0.05 for all). At the time of septic shock diagnosis, NSE levels more accurately predicted the risk of death before ICU discharge than S100B. However, NSE had no better predictive value for short-term mortality than APACHE II, SAPS II and SOFA. Adding C-reactive protein (CRP) and S100B concentrations to the APACHE II score created a predictive model with 95% mortality accuracy (AUC = 0.95; 95%CI 0.85-0.99; P = 0.03).</p><p><strong>Conclusions: </strong>The assessment of acute neuronal injury plays an important role in prognostication in patients with septic shock. The concentration of S100B protein in combination with APACHE II score and concentration of CRP more accurately predicts mortality than the APACHE II alone.</p>","PeriodicalId":19132,"journal":{"name":"Neurologia i neurochirurgia polska","volume":null,"pages":null},"PeriodicalIF":2.9,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141889791","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":"Cerebral amyloid angiopathy associated with Alzheimer's Disease: two pathologies from a single peptide?","authors":"Gabriele Gaggero, Davide Taietti, Veronica Parrella, Pietro Fiaschi","doi":"10.5603/pjnns.97901","DOIUrl":"10.5603/pjnns.97901","url":null,"abstract":"","PeriodicalId":19132,"journal":{"name":"Neurologia i neurochirurgia polska","volume":null,"pages":null},"PeriodicalIF":2.9,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"138808330","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":"Genetics of Parkinson's Disease: state-of-the-art and role in clinical settings.","authors":"Jarosław Dulski, Owen A Ross, Zbigniew K Wszolek","doi":"10.5603/pjnns.97806","DOIUrl":"10.5603/pjnns.97806","url":null,"abstract":"<p><strong>Introduction: </strong>Advances in sequencing technologies have enabled extensive genetic testing on an individual basis. Genome-wide association studies (GWAS) have provided insight into the pathophysiology of PD. Additionally, direct-to-consumer genetic testing has enabled the identification of genetic diseases and risk factors without genetic counselling. As genetics increasingly permeates clinical practice, this paper aims to summarise the most important information on genetics in PD forclinical practitioners.</p><p><strong>State-of-the-art: </strong>LRRK2 mutations may be found in c.1% of all PD patients with an indistinguishable phenotype from sporadic PD. LRRK2-PD is more prevalent in patients with a positive family history (5-6%) and among certain populations (e.g. up to 41% in North Africans and Ashkenazi Jews). Other familial forms include PRKN (patients with early onset, EOPD), VPS35 (Western European ancestry), PINK1 (EOPD), DJ-1 (EOPD), and SNCA. GBA mutations are found in a large number of PD patients and are associated with faster progression and a poorer prognosis. GWAS have identified 90 genetic risk variants for developing PD and several genetic modifiers for the age at onset, disease progression, and response to treatment.</p><p><strong>Clinical implications: </strong>Multigene panels using next-generation sequencing (NGS) are the first choice for genetic testing in clinical settings. Whole exome sequencing is increasingly being used, particularly as the second-tier testing in patients with negative results of multigene panels. NGS may not detect accurately copy number variants (CNV), meaning that additional analysis is warranted. In a case of a variant of unknown significance (VUS), we suggest firstly searching the up-to-date literature. Segregation studies and in silico predictions may shed more light on the character of the VUS; however, functional studies remain the gold standard. Several interventional clinical trials are active for carriers of LRRK2 and/or GBA mutations.</p><p><strong>Future directions: </strong>Application of artificial intelligence and machine learning will enable high-throughput analysis of large sets of multimodal data. We speculate that, in the future, the treatment landscape for PD will be similar to that in oncological conditions, in which the presence of certain gene mutations or gene overexpression determines the prognosis and treatment decision-making.</p>","PeriodicalId":19132,"journal":{"name":"Neurologia i neurochirurgia polska","volume":null,"pages":null},"PeriodicalIF":2.9,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139087803","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":"Translation and cross-cultural adaptation of Polish version of Neuropathic Pain Questionnaire (NPQ-PL) and its comparisons with different questionnaires.","authors":"Anna K Szewczyk, Anna Jamroz-Wiśniewska, Klara Gonet, Konrad Rejdak","doi":"10.5603/pjnns.96769","DOIUrl":"10.5603/pjnns.96769","url":null,"abstract":"<p><strong>Aim of the study: </strong>The aim of this study was to assess the validity and reliability of the Polish version of the Neuropathic Pain Questionnaire (NPQ-PL), and to compare it to other diagnostic tools.</p><p><strong>Clinical rationale for the study: </strong>Neuropathic pain is a burdensome condition, of which the exact prevalence is difficult to estimate. During initial screening, pain questionnaires are helpful in alerting clinicians about the need for further evaluation.</p><p><strong>Material and methods: </strong>The NPQ-PL has been developed following the guidelines for translation and cultural adaptation. A total of 140 patients with chronic pain (ChP), 90 with neuropathic pain (NP), and 50 with nociceptive pain (NoP), were enrolled into this study.</p><p><strong>Results: </strong>The study group consisted of 60.71% women and 39.29% men; the mean age of patients (standard deviation, SD) was 53.22 years (15.81), and the average NPQ-PL score (SD) was 0.49 (1.27). Statistically significant relationships were found between higher age distribution and greater pain intensity in the NP group compared to the NoP group. There were also significant differences in pain levels between people of different ages, with the predominance in the elderly. Cronbach's alpha coefficient of the whole questionnaire was 0.85 and the intraclass correlation coefficient (ICC) for test-retest reliability was 0.635. Using receiver-operating characteristic (ROC) curve analysis, the area under the curve (AUC) was 0.97 and the best cut-off value was 0.002, which resulted in the highest sensitivity (93.3%) and specificity (96.0%).</p><p><strong>Conclusions and clinical implications: </strong>The NPQ-PL is a valid tool for discriminating between neuropathic and nociceptive pain. It can be used by physicians of various disciplines when assessing patients with ChP of various origins.</p>","PeriodicalId":19132,"journal":{"name":"Neurologia i neurochirurgia polska","volume":null,"pages":null},"PeriodicalIF":2.9,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139087804","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":"SERPINE1 and MTHFR variants: key targets in the search for genetic determinants in ESUS?","authors":"Anetta Lasek-Bal","doi":"10.5603/pjnns.101597","DOIUrl":"10.5603/pjnns.101597","url":null,"abstract":"","PeriodicalId":19132,"journal":{"name":"Neurologia i neurochirurgia polska","volume":null,"pages":null},"PeriodicalIF":2.9,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141889795","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":"Saccades in Huntington's Disease.","authors":"Daniel Zielonka","doi":"10.5603/pjnns.101418","DOIUrl":"10.5603/pjnns.101418","url":null,"abstract":"","PeriodicalId":19132,"journal":{"name":"Neurologia i neurochirurgia polska","volume":null,"pages":null},"PeriodicalIF":2.9,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141476961","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":"Mechanical thrombectomy in very elderly people: shortand long-term outcomes of endovascular stroke treatment in nonagenarians.","authors":"Paweł Wrona, Tomasz Homa, Dominik Wróbel, Dawid Rolkiewicz, Ewa Włodarczyk, Tadeusz Popiela, Agnieszka Slowik, Katarzyna Sawczyńska","doi":"10.5603/pjnns.99386","DOIUrl":"10.5603/pjnns.99386","url":null,"abstract":"<p><strong>Aim of study: </strong>To assess outcomes of mechanical thrombectomy (MT) in nonagenarians suffering from acute ischaemic stroke (AIS) in a 1-year follow-up.</p><p><strong>Clinical rationale for study: </strong>Age is a factor associated with both the occurrence of AIS and a poorer prognosis. As the population ages, the prevalence of AIS among the very old (90 and older) is expected to rise. Data on long-term outcomes of MT, being the optimal treatment of AIS caused by large vessel occlusions, is scarce in the population of nonagenarians.</p><p><strong>Material and methods: </strong>We analysed all AIS patients treated with MT in a single Comprehensive Stroke Centre. We compared two subgroups: nonagenarians (people aged 90-99) and controls ( < 90 years) in terms of cardiovascular risk factors profile, stroke severity, treatment course, presence of in-hospital complications, and outcomes (mortality and good functional outcome defined as modified Rankin Scale ≤ 2) at discharge and at 90- and 365-day follow-ups.</p><p><strong>Results: </strong>Nonagenarians were more commonly female and suffering from atrial fibrillation. They more often developed urinary tract infection during hospitalisation. Stroke severity, treatment course and in-hospital outcomes were comparable between the groups. Nonagenarians had non-significantly higher 90-day and 365-day mortality, and a significantly lower rate of good functional outcomes after 90 days (25.0% vs 57.7%, p = 0.011) and 365 days (31.5% vs 61.0%, p = 0.020).</p><p><strong>Conclusions and clinical implications: </strong>Despite worse outcomes than in younger patients, 25% of nonagenarians were functionally independent three months after MT, and almost one in three of them were so a year after the procedure, thereby showing the benefits of the treatment in this group.</p>","PeriodicalId":19132,"journal":{"name":"Neurologia i neurochirurgia polska","volume":null,"pages":null},"PeriodicalIF":2.9,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141590900","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":"Effects of idebenone treatment in a patient with DNAJC30-associated Leigh Syndrome.","authors":"Kamil Dzwilewski, Karol Chojnowski, Magdalena Krygier, Marta Zawadzka, Magdalena Chylińska, Maria Mazurkiewicz-Bełdzińska","doi":"10.5603/pjnns.100423","DOIUrl":"10.5603/pjnns.100423","url":null,"abstract":"","PeriodicalId":19132,"journal":{"name":"Neurologia i neurochirurgia polska","volume":null,"pages":null},"PeriodicalIF":2.9,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141917190","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":"Minimally invasive transforaminal lumbar interbody fusion (MIS TLIF) in treatment of degenerative diseases of lumbosacral spine compared to modified open TLIF: a prospective randomised controlled study.","authors":"Roman Kalina","doi":"10.5603/pjnns.97784","DOIUrl":"10.5603/pjnns.97784","url":null,"abstract":"<p><strong>Introduction: </strong>The aim of this study was to determine the clinical and radiological outcomes of minimally invasive transforaminal lumbar interbody fusion (MIS TLIF) compared to modified open TLIF via the Wiltse approach for treatment of degenerative diseases of the lumbosacral region. The results were evaluated over a post-operative period of 48 months.</p><p><strong>Material and method: </strong>Radiological data and medical records of patients who underwent MIS TLIF and modified open TLIF between May 2017 and May 2021 were reviewed. Parameters monitored to evaluate the surgical results were: clinical status, operation time, blood loss, radiation dose to patient, day of discharge, analgesic consumption, fusion, and complications rate. For functional assessment, the Visual Analogue Scale for back pain (VAS-BP), VAS for leg pain (VAS-LP), Oswestry Disability Index (ODI), Patient Satisfaction Rate (PSR), and the complication rate were used.</p><p><strong>Results: </strong>This study included 57 patients randomly divided into two groups: 30 operated on using the MIS TLIF technique, and 27 operated on using the modified open TLIF technique via the Wiltse approach. 48-month follow-up rates were similar for the two cohorts. Patients did not differ significantly at baseline in terms of ODI, VAS-BP, or VAS-LP. Perioperatively, MIS TLIF was associated with significantly less blood loss (167.3 ± 80.0 vs. 297.9 ± 81.5 ml, p = 1.1E-05), slightly longer procedures (185.7 ± 45.2 vs. 183.1 ± 66.4 minutes, p = 0.76), a lower radiation dose (MIS 16.9 ± 7.1 vs. 22.0 ± 9.7 mGy OPEN p = 0.012), and shorter hospitalisations (MIS 5.9 ± 1.8 vs. 7.7 ± 1.6 days OPEN). The most common complication was radiculitis, which accounted for 33% and 37% in the MIS and the TLIF groups, respectively. The second most common complication was malposition of the fixation material, which accounted for 18.5% in the TLIF group and 20% in the MIS group. The level of fusion achieved was 92.6% in the MIS group versus 92.3% in the TLIF group. There was lower consumption of analgesics in MIS. Patient Satisfaction Rate (PSR) was 90%.</p><p><strong>Conclusions: </strong>Clinical and radiological outcomes after MIS TLIF in patients with degenerative disease of the lumbosacral region are generally favourable. MIS TLIF was associated with decreased blood loss perioperatively, a lower radiation dose and an earlier discharge, but there was no difference between MIS TLIF and modified open TLIF in 48-month outcomes in terms of disability, back pain, leg pain, quality of life, or patient satisfaction rate or complication rate. Although the differences taper off over time, MIS TLIF has undeniable advantages in the perioperative and early postoperative periods.</p>","PeriodicalId":19132,"journal":{"name":"Neurologia i neurochirurgia polska","volume":null,"pages":null},"PeriodicalIF":2.9,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141889793","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 of glutamine synthetase polymorphisms rs2296521, rs10911021 and rs12136955 with plasma ammonia concentration in valproic acid-treated Egyptian epilepsy patients.","authors":"Wessam El-Sayed, Abdelaziz M Hussein, Ibrahim Elmenshawi, Ghada Helal, Mohammed Abbas, Abdelnaser Badawy, Nedaa A Kiwan, Mahmoud El Tohamy, Ghada Awadalla, Osama A Abulseoud","doi":"10.5603/pjnns.99826","DOIUrl":"10.5603/pjnns.99826","url":null,"abstract":"<p><strong>Introduction: </strong>The use of valproic acid (VPA) in the treatment of some psychiatric and neurological disorders such as bipolar disorder, migraines, and epilepsy is associated with hyperammonemia. However, the mechanism of this negative effect of VPA is unclear. In this study, we investigate gene glutamate-ammonia ligase (GLUL) polymorphisms for the glutamine synthetase (GS) enzyme, a key enzyme that catalyzes the removal of ammonia by incorporating it with glutamate to form glutamine, and we investigate whether it has a relationship with the emergence of hyperammonemia during VPA-based therapy.</p><p><strong>Patients and methods: </strong>We enrolled 180 Egyptian epilepsy patients in this study. Patient history, general and neurological examination and blood samples from arm veins were taken. Real time TaqMan PCR polymorphism for three polymorphism SNPs (rs2296521, rs10911021 and rs12136955) of GLUL was done. We assessed the relationship between the patient features, including three GLUL polymorphisms, and the development of hyperammonemia during VPA-based therapy.</p><p><strong>Results: </strong>We found that the ammonia levels showed a positive correlation with VPA treatment duration (p = 0.015) and a negative correlation with carbamazepine total dose per day (p = 0.027) and with WBCs count (p = 0.026). Also, female patients having rs2296521 SNPs with the A allele and patients having rs10911021 SNPs with the C allele were at high risk for elevated plasma ammonia levels. Moreover, patients having rs12136955 SNPs with the A allele or associated hypertension as a co-morbidity were at high risk for elevated plasma ammonia levels.</p><p><strong>Conclusion: </strong>Female patients who have rs2296521 with the A allele, rs10911021 with the C allele, or rs12136955 with the A allele, are independent risk factors for elevated plasma ammonia levels during VPA-based therapy. Moreover, carbamazepine combined therapy may protect against the development of hyperammonemia in VPA-treated patients.</p>","PeriodicalId":19132,"journal":{"name":"Neurologia i neurochirurgia polska","volume":null,"pages":null},"PeriodicalIF":2.9,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142018155","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}