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Air quality is of large concern in the city of Krakow, southern Poland. A comprehensive study was launched by us in which two PM fractions (PM1 and PM10) were sampled during 1-year campaign, lasting from April 21, 2018 to March 19, 2019. A suite of modern analytical methods was used to characterize the chemical composition of the collected samples. The contents of 14 sugars, sugar alcohols and anhydrosugars, 16 polycyclic aromatic hydrocarbons, selected metals and non-metals and ions were analyzed, in addition to organic and elemental carbon content. The carbon isotope composition in both analysed PM fractions, combined with an isotope-mass balance method, allowed to distinguish three main components of carbonaceous emissions in the city: (1) emissions related to combustion of hard coal, (2) emissions related to road transport, and (3) biogenic emissions. The heating season emissions from coal combustion had the biggest contribution to the reservoir of carbonaceous aerosols in the PM10 fraction (44%) and, together with the biogenic emission, they were the biggest contributors to the PM1 fraction (41% and 44%, respectively). In the non-heating season, the dominant source of carbon in PM10 and PM1 fraction were the biogenic emissions (48 and 54%, respectively). [ABSTRACT FROM AUTHOR]

Introduction. Direct oral anticoagulants (DOAC) are the first-line treatment for primary and secondary acute ischaemic stroke (AIS) prevention in patients with nonvalvular atrial fibrillation (NVAF), but a significant percentage of patients develop AIS despite being treated with DOAC. As the number of DOAC-treated patients is growing, so is the number of patients with AIS on DOAC. The aim of the study was to assess the incidence of AIS with prestroke DOAC treatment among patients hospitalised in the University Hospital in Kraków, to analyse the clinical characteristics of AIS occurring in patients on DOAC, and to identify potential causes of treatment ineffectiveness in this group. Materials and Methods. In the study, we included all patients hospitalised in the Department of Neurology of the University Hospital in Kraków within one year (July 2022 to June 2023) with the diagnosis of AIS. The group was divided into two subgroups of patients with and without prestroke DOAC treatment. Based on medical files, we retrospectively analysed the profile of cardiovascular risk factors, stroke severity (assessed with National Institutes of Health Stroke Scale, NIHSS), use of causative stroke treatment and short-term outcomes (defined as NIHSS score, modified Rankin scale (mRS) score at discharge, in-hospital mortality, and secondary intracerebral haemorrhage among patients treated with mechanical thrombectomy, MT). Within the DOAC-treated subgroup, we looked for potential causes of AIS occurring despite DOAC treatment (valvular AF, poor adherence to treatment, underdosing, other prothrombotic conditions, aetiology of stroke other than thromboembolic, and drug-drug interactions). Results. In the study, we included 768 AIS patients. 109 (14.2%) had a history of prestroke DOAC treatment. A potential cause of DOAC treatment failure was identified in the majority of them (n = 63 , 57.8%). Patients with prestroke DOAC treatment had worse functional condition before stroke and higher stroke severity on admission but similar short-term outcomes and similar short-term effects of treatment with MT. DOAC (+) and DOAC (-) patients had different profiles of cardiovascular risk factors and different factors associated with short-term outcome. Conclusions and Clinical Implications. A potential cause of AIS occurring in DOAC-treated patients can be identified in most cases and in many of them prevented. [ABSTRACT FROM AUTHOR]

Background: Post-stroke delirium has a negative impact on functional outcome. We explored if there is any association between delirium, subsyndromal delirium and long-term mortality after ischaemic stroke and transient ischaemic attack. Methods: We included 564 patients with ischaemic stroke or transient ischaemic attack. We assessed symptoms of delirium during the first 7 days after admission. We used Cox proportional hazards models to analyse all-cause mortality during the first 5 years after stroke. Results: We diagnosed delirium in 23.4% and subsyndromal delirium in 10.3% of patients. During the follow-up, 72.7% of patients with delirium, 51.7% of patients with subsyndromal delirium and 22.7% of patients without delirious symptoms died (P < 0.001). Patients with subsyndromal delirium and delirium had higher risk of death in the multivariate analysis (HR 1.72, 95% CI 1.11–2.68, P = 0.016 and HR 3.30, 95% CI 2.29–4.76, P < 0.001, respectively). Conclusions: Post-stroke delirium is associated with long-term mortality. Patients with subsyndromal delirium are at the intermediate risk of death. [ABSTRACT FROM AUTHOR]

Introduction: In the last decade, the stroke mortality rate in Poland significantly decreased. We hypothesised that stroke severity, the major determinant of outcome, is lowered in Polish stroke patients.Material and Methods: We compared the stroke severity in two cohorts of first-ever ischaemic stroke patients admitted within 24 h after stroke onset to the Department of Neurology, Jagiellonian University, Krakow in the years 1994-2000 and 2008-2012. To assess stroke severity we used the National Institute of Health Stroke Scale (NIHSS). We defined mild stroke as an NIHSS score ≤ 4.Results: We included 816 patients hospitalised in the years 1994-2000 and 569 patients hospitalised in the years 2008-2012. NIHSS score on admission was higher in the former (mean: 12.0 ±7.0 vs. 8.0 ±6.0, p < 0.01), and the frequency of mild stroke was higher in the latter (12.7% vs. 41.8%, p < 0.01). Although the frequency of hypertension (67.3% vs. 81.2%, p < 0.01), diabetes mellitus (20.8% vs. 26.4%, p = 0.02) and atrial fibrillation (20.7% vs. 26.2%, p = 0.02) was higher in patients hospitalised in the years 2008-2012, the systolic and diastolic blood pressure values and the frequency of fasting hyperglycaemia were lower in this cohort. This cohort also less frequently suffered from hypercholesterolaemia (25.4% vs. 16.3%, p < 0.01).Conclusions: Reduced stroke severity is associated with better recognition and control of risk factors and explains the improvement of survival in Polish stroke patients. [ABSTRACT FROM AUTHOR]

Background: Acetylcholinesterase inhibitors (AChEIs) are the treatment of choice for patients with Alzheimer's disease (AD). However, their efficacy is moderate and differs from patient to patient. Recent studies suggest that the Q192R variant of the paraoxonase 1 gene (PON1) might affect individual susceptibility to these drugs. Methods: We investigated the influence of 3 single nucleotide polymorphisms (SNPs) in PON1 (rs 662, rs 854560, rs 705381) and the APOE common polymorphism in 101 Polish patients with late-onset AD in response to treatment with AChEIs. Results: No significant differences were observed between carriers and non-carriers of the PON1 SNPs or the APOE common polymorphism in terms of treatment response. These results did not change after stratification of APOE status. Conclusion: Our results suggest that both the investigated PON1 and APOE common SNPs do not influence treatment response to AChEIs in patients with AD. Copyright © 2011 S. Karger AG, Basel [ABSTRACT FROM AUTHOR]

Background: The relationship between different paraoxonase (PON) gene polymorphisms and the risk of Alzheimer's disease (AD) was studied several times and the results were controversial. Methods: We investigated the association of 4 single-nucleotide polymorphisms (SNPs) of the PON1 (M55L; Q192R; -161C/T) and the PON2 (C311S) genes that were shown to affect the risk of sporadic AD. We studied 360 Caucasian cases with late-onset AD and 354 nondemented controls. Results: No significant differences were observed between the studied PON SNPs and AD risk. The results did not change after stratification of the apolipoprotein E status. Meta-analyses of studies in Caucasians assessing the associations between the PON1 M55L, -161C/T and Q192R SNPs and the risk of AD were performed, and no associations were found. Conclusion: Our results suggest that the studied PON1 and PON2 polymorphisms are not associated with late-onset AD. Copyright © 2011 S. Karger AG, Basel [ABSTRACT FROM AUTHOR]

Objective: To determine whether 5 single nucleotide polymorphisms (SNPs) associate with ALS in 3 different populations. We also assessed the contribution of genotype to angiogenin levels in plasma and CSF. Methods: Allelic association statistics were calculated for polymorphisms in the ANG gene in 859 patients and 1047 controls from Sweden, Ireland and Poland. Plasma, serum and CSF angiogenin levels were quantified and stratified according to genotypes across the ANG gene. The contribution of SNP genotypes to variance in circulating angiogenin levels was estimated in patients and controls. Results: All SNPs showed association with ALS in the Irish group. The SNP rs17114699 replicated in the Swedish cohort. No SNP associated in the Polish cohort. Age- and sex-corrected circulating angiogenin levels were significantly lower in patients than in controls (p<0.001). An allele dose-dependent regulation of angiogenin levels was observed in controls. This regulation was attenuated in the ALS cohort. A significant positive correlation between CSF plasma angiogenin levels was present in controls and abolished in ALS. Conclusions: ANG variants associate with ALS in the Irish and Swedish populations, but not in the Polish. There is evidence of dysregulation of angiogenin expression in plasma and CSF in sporadic ALS. Angiogenin expression is likely to be important in the pathogenesis of ALS. [ABSTRACT FROM AUTHOR]

The sigma-1 receptor (SIGMAR1) is a subtype of a nonopioid sigma receptor family and is implicated in numerous functions connected with Alzheimer's disease (AD). Two common genetic variants were identified in SIGMAR1: GC-241 -240TT and Q2P (A61C). It was suggested that the TT-C haplotype is a protective factor for AD. We decided to investigate a putative link between the variants of SIGMAR1 and AD in a group of Polish patients with late-onset AD, in patients with mild cognitive impairment, and in a control group. We observed no significant differences for the SIGMAR1 allele, genotype, haplotype, and diplotype distributions between the studied groups. Multivariate logistic regression analysis showed no interaction between the APOE4 and SIGMAR1 polymorphisms. Further studies using data from different populations are required to elucidate the effect of SIGMAR1 polymorphisms on AD. Copyright (c) 2007 S. Karger AG, Basel. [ABSTRACT FROM AUTHOR]

A letter to the editor is presented which is concerned with research conducted to investigate whether decoding abilities influence behavioral disturbances in Alzheimer's disease.

Background: The detailed data concerning multiple sclerosis (MS) epidemiology in Poland are based on studies from few and less populated provinces. Therefore, we evaluated MS incidence and prevalence in Poland using electronic administrative health claims (AHCs) from the National Health Fund., Methods: We retrospectively analyzed the AHC financial database collected from 2009 to 2019, encompassing all patients using public health resources. Three different algorithms for identification of MS cases were used: based on studies performed in German population (type 1), tested in the United States (type 2), and one created for the purpose of this study (type 3) that required at least 3 AHCs since 2009 with G35 ICD-10 diagnosis in outpatient specialist care, during hospitalization, and/or at rehabilitation service in any combination within maximally 3 years between the first and the last AHC, and provided that at least one AHC was either in neurological outpatient care or during hospitalization at a neurological ward or prescription of disease-modifying therapy. The American algorithm (type 2) required 3 AHCs within the analyzed year, while the German algorithm (type 1) required only one AHC in the analyzed year., Results: According to the type 3 algorithm, age-adjusted MS incidence and prevalence in 2019 was 6.6 and 131.2 / 100,000 inhabitants, respectively. From 2014 to 2019, the significant trend in increasing prevalence and decreasing incidence of MS was observed (p<0.001). Median age of prevalent MS patients was 50 years (interquartile range, IQR 39-61) whereas median age of incident MS cases was 37 years (IQR 28-48). Female-to-male ratio in MS patients was 2.4. According to the type 1 algorithm, age-adjusted MS incidence and prevalence in 2019 was 11.6 and 244.9 / 100,000 inhabitants, respectively. Use of the type 2 algorithm resulted in estimated age-adjusted MS incidence and prevalence values in 2019 of 6.2 and 120.1 / 100,000 inhabitants, respectively., Conclusions: Multiple sclerosis incidence and prevalence in Poland are higher than previously reported and similar to the numbers shown for central European countries., (Copyright © 2021. Published by Elsevier B.V.)

Background: Little is known about the prognostic role of fasting glucose after mechanical thrombectomy (MT)., Aims: We investigated whether fasting glucose on the next day after MT was associated with long-term outcome in acute ischemic stroke patients according to diabetes., Methods: We retrospectively analyzed 181 consecutive patients with acute anterior circulation ischemic stroke who underwent MT in 2 comprehensive stroke centers in Poland. Glucose levels were evaluated on admission and on the next day after MT. Fasting hyperglycemia (FHG) was defined as the glucose level above 5.5 mmol/L. Unfavorable outcome was defined as modified Rankin scale (mRS) of 3-6 at day 90 from stroke onset., Results: Patients with FHG had higher mRS at 3-month follow-up compared with those without FHG (3.71 ± 2.56 versus 1.87 ± 2.22, P < .001). In the subgroup analyses, FHG was associated with poor neurological outcome in the group without diabetes (3.74 ± 2.52 versus 1.81 ± 3.74, P < .001) but not with diabetes (3.64 ± 2.67 versus 2.30 ± 3.74, P= .11). Patients without diabetes who had FHG were older, had higher glucose on admission, higher prevalence of atrial fibrillation, cardioembolic stroke etiology and bleeding brain complications compared with the group with normal fasting glucose. After adjustment for potential confounders, fasting glucose (odds ratio [OR] 1.46; 95% CI 1.19-1.79, P < .001), age (OR 1.06; 95% CI 1.02-1.10, P = .001), successful reperfusion (OR 0.09; 95% CI 0.04-0.22, P < .001) and baseline NIHSS score (OR 1.18; 95% CI 1.08-1.29, P < .001) were predictors of mRS 3-6 at 3-month follow-up in the whole group. In the subgroup without diabetes, fasting glucose (OR 1.57; 95% CI 1.17-2.11, P = .002), age (OR 1.05; 95% CI 1.01-1.08, P = .008), successful reperfusion (OR 0.11; 95% CI 0.04-0.30, P < .001) and baseline NIHSS score (OR 1.14; 95% CI 1.04-1.26, P = .011) were independent predictors of unfavorable 3-month outcome., Conclusions: Fasting glucose on the next day after MT in patients with acute ischemic stroke is an independent risk factor for worse 3-month outcome., (Copyright © 2020. Published by Elsevier Inc.)

Our study aimed to explore the association between serum C-reactive protein (CRP) and post-stroke depressive symptoms. We prospectively recruited 572 patients with ischemic stroke or transient ischemic attack in whom serum CRP level was measured within 48 h after stroke onset. Depressive symptoms were assessed at day 8 and 3 months after stroke in 405 and 306 patients, respectively. Patients with greater depressive symptoms at day 8 and patients with greater depressive symptoms 3 months after stroke had higher CRP level (median: 7.9 vs 4.3 mg/L, P < 0.01 and 6.7 vs 3.4 mg/L, P = 0.01, respectively). In the univariate analysis, CRP > 9.2 mg/L was associated with depressive symptoms at day 8 (OR: 2.06, 95%CI: 1.30-3.28, P < 0.01) and CRP > 4.3 mg/L was associated with depressive symptoms 3 months after stroke (OR: 1.79, 95%CI: 1.06-3.02, P = 0.03). In the multivariate analysis, higher CRP level was related to depressive symptoms at day 8 (OR: 2.23, 95%CI: 1.28-3.90, P < 0.01), but not depressive symptoms 3 months after stroke (OR: 1.13, 95%CI: 0.59-2.17, P = 0.71). In conclusion, higher levels of CRP are associated with greater depressive symptoms at day 8 after stroke, but their effects on depressive symptoms 3 months after stroke are less significant.

Background: Amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD) are complex neurodegenerative disorders that can be either sporadic or familial and can overlap clinically and pathologically. We present the first Central-Eastern European family with ALS-FTD syndrome due to a C9ORF72 repeat expansion., Methods: We studied a family consisting of 37 family members, 6 of whom were genetically evaluated for C9ORF72 expansions. Family members were evaluated clinically, by history, and by chart review., Results: Overall, 5 generations of the family were studied, and 6 affected family members were identified. All affected members were females and had a different clinical presentation, which was ALS, FTD or both. Among the genetically evaluated subjects, 5 carried a C9ORF72 expansion; 4 of these individuals remain clinically unaffected., Conclusion: Our report reveals that the hexanucleotide repeat expansion of C9ORF72, which is the most common genetic cause of ALS-FTD complex disorder, is also present in Central-Eastern Europe. Further studies are needed to assess the frequency of this expansion in the Polish population with familial as well as sporadic ALS, FTD and the ALS-FTD complex disorder., (© 2014 S. Karger AG, Basel.)

Associations between the angiotensin II type 1 receptor (AGTR1) gene A1166C polymorphism and hypertension, aortic abdominal aneurysms (as a risk factor) as well as cardiovascular disorders (as a risk factor and an outcome predictor) have been demonstrated. We aimed to investigate the role of this polymorphism as risk factors and outcome predictors in primary intracerebral hemorrhage (PICH) and aneurysmal subarachnoid hemorrhage (aSAH). We have prospectively recruited 1078 Polish participants to the study: 261 PICH patients, 392 aSAH patients, and 425 unrelated control subjects. The A1166C AGTR1 gene polymorphism was studied using the tetra-primer ARMS-PCR method. Allele and genotype frequencies were compared with other ethnically different populations. The A1166C polymorphism was not associated with the risk of PICH or aSAH. Among the aSAH patients the AA genotype was associated with a good outcome, defined by a Glasgow Outcome Scale of 4 or 5 (p<0.02). The distribution of A1166C genotypes in our cohort did not differ from other white or other populations of European descent. In conclusion, we found an association between the A1166C AGTR1 polymorphism and outcome of aSAH patients, but not with the risk of PICH or aSAH., (Copyright © 2014 Polish Neurological Society. Published by Elsevier Urban & Partner Sp. z o.o. All rights reserved.)

Background and Purpose: Ischaemic stroke is considered to be multifactorial and interactions between environmental and genetic factors play an important role. Although vascular risk factors are well known, the genetic ones are still undiscovered. In the present study, we assessed the significance of the β-fibrinogen -455G/A gene polymorphism and the risk of ischaemic stroke in a Polish population., Material and Methods: 426 ischaemic stroke patients classified according to stroke aetiologies (small vessel disease, large vessel disease or cardioembolic stroke) and 234 controls were included in the study. The association of the β-fibrinogen genotypes with ischaemic stroke was tested using logistic regression analysis under dominant, recessive or additive models of inheritance., Results: The allele and genotype distributions of the β-fibrinogen -455G/A gene polymorphism did not differ significantly between patients and controls (patients: G - 75%, GG - 56.6%, GA - 36.8%, AA - 6.6%; controls: G - 73.7%, GG - 57.3%, GA - 32.9%, AA - 9.8%; p > 0.05, χ2). In addition, logistic regression analysis adjusted for the known risk factors, i.e. hypertension, ischaemic heart disease, myocardial infarction, hypercholesterolaemia, diabetes mellitus and smoking, did not show a role of the studied polymorphism in ischaemic stroke., Conclusions: The β-fibrinogen -455G/A gene polymorphism is not a risk factor for ischaemic stroke in a Polish population.

Background and Purpose: Recent genome-wide association studies have indicated 3 new susceptibility loci for Alzheimer disease (AD): complement receptor 1 (CR1), clusterin (CLU), and the phosphatidylinositol-binding clathrin assembly protein (PICALM). We investigated the influence of the rs6656401 single nucleotide polymorphisms (SNP) of the CR1 gene, the rs3851179 SNP of the PICALM gene, and the rs11136000 SNP of the CLU gene on risk of AD in a Polish population., Material and Methods: In 253 Caucasian AD patients and 240 controls, analyses identifying the rs6656401, rs3851179 and rs11136000 SNPs and APOE common polymorphisms were performed., Results: No significant differences were observed in the distribution of the rs6656401 of CR1, rs3851179 of PICALM and rs11136000 of CLU SNPs between AD patients and controls. The APOE ε4 common polymorphism was strongly re-lated to the risk of AD., Conclusion: Our results suggest that investigated SNPs are not associated with AD in a Polish population.

Background: Beta-adrenergic blockade prevents or diminishes stress-induced hyperglycemia in different experimental models. The aim of the study was to determine if the use of beta-blockers before stroke reduces the risk of acute hyperglycemia in stroke patients., Methods: We analyzed the data of 603 consecutive patients with acute ischemic stroke and without pre-stroke diagnosis of diabetes mellitus admitted to stroke unit within 24 h after symptoms onset., Results: Plasma glucose level on admission (6.0 ± 1.4 vs 6.6 ± 1.9 mmol/L, P = 0.01) and fasting glucose on day 1 (5.2 ± 1.1 vs 5.7 ± 1.1 mmol/L, P = 0.02) were significantly lower in patients treated with beta-blockers before stroke than in those who did not receive such a treatment. On multivariate logistic analysis beta-blockers use before stroke was associated with reduced risk of glucose level on admission ≥7.8 mmol/L (OR: 0.22, 95%CI: 0.07-0.74) and fasting glucose on day 1 ≥ 7.0 mmol/L (OR: 0.21, 95%CI: 0.05-0.91). The risk of fasting hyperglycemia defined as glucose ≥6.1 mmol/L did not differ between groups., Conclusions: Beta-blockage before stroke onset may result in lower plasma glucose on admission and prevent early hyperglycemia in patients without pre-stroke diagnosis of diabetes mellitus., (Copyright © 2012 Elsevier Ireland Ltd. All rights reserved.)

Objective: Animal studies demonstrated that protein malnutrition increases pituitary-adrenorcortical activity and leads to excessive cortisol release. The aim of our study was to determine the association between serum albumin and cortisol level in patients with acute ischemic stroke., Methods: Fifty-nine patients with first-ever ischemic stroke were included. Serum albumin level was measured within 36 h after stroke symptoms onset. Serum cortisol was measured between 36 and 72 h after stroke onset at 6 a.m., 10 a.m., 6 p.m. and 10 p.m., Results: The patients in upper tertile of serum albumin had significantly lower cortisol level measured at 6 a.m. (median with interquartiles: 549.0 [430.4-667.7] nmol/L vs 590.4 [482.8-918.7] nmol/L, P=0.047) and 10 a.m. (402.8 [344.9-510.4] nmol/L vs 634.6 [482.8-827.7] nmol/L, P<0.01) than patients in lower and middle tertiles. On logistic regression analysis adjusted for age and stroke severity, patients in lower and middle tertile of serum albumin had about 7-times higher risk of hypercortisolemia than patients in upper tertile (P<0.01)., Conclusions: Low serum albumin level in patients with ischemic stroke is associated with higher serum cortisol level and predisposes to hypercortisolemia., (Copyright © 2011 Elsevier Ireland Ltd. All rights reserved.)

Platelet glycoproteins are involved in pathophysiology of cerebrovascular diseases. The aim of this study was to investigate the association between the GpIIIa gene A1/A2 polymorphism and a risk of aneurysmal subarachnoid haemorrhage (SAH) in a Polish population. In a case-control study we genotyped 288 Caucasian patients with aneurysmal SAH and 457 age-, gender- and race-matched controls. The GpIIIa A1/A2 polymorphism was genotyped with RFLP technique. No difference was found in the distribution of the polymorphism between the cases and controls (cases: A1A1-201 (69.8%), A1A2-83 (28.8%) and A2A2-4 (1.4%) vs. controls: A1A1-323 (70.7%); A1A2-128 (28.0%); A2A2-6 (1.3%), P>0.05. In a multivariate analysis female gender (OR=1.950; 95%CI: 1.308-2.907), hypertension (OR=4.774; 95%CI: 3.048-7.478) and smoking (OR=2.034; 95%CI: 1.366-3.030), but not GpIIIa A1/A2 polymorphism, were independent risk factors for aneurysmal SAH. The GpIIIa A1/A2 polymorphism is not a risk factor of aneurysmal SAH in a Polish population.

Interleukin-1 is a potent proinflammatory cytokine involved in the pathophysiology of Alzheimer's disease (AD). We genotyped IL-1beta (-511 C/T) and the apolipoprotein E (APOE) common polymorphisms in a large case-controlled study in a Polish population. We included 332 patients with late-onset AD and 220 controls without any neurological deficit, cognitive complaints and history of neurological diseases, aged > or = 65 years. The distribution of the IL-1beta (-511 C/T) genotypes was similar to that in the controls (AD: C/C = 45.8%, C/T = 44.6%, T/T = 9.6% vs. controls: C/C = 53.9%, C/T = 38.3%, T/T = 7.3%, p > 0.05). Our study confirms previous reports that APOE epsilon4 is strongly related to the risk of AD (odds ratio = 6.60, 95% confidence interval 4.19-10.41). APOE status did not affect the distribution of the studied IL-1beta polymorphism. The IL-1beta (-511 C/T) polymorphism is not a risk factor for late-onset AD in a Polish population., (Copyright 2009 S. Karger AG, Basel.)

Background: Oxidative stress plays an important role in vascular pathology and contributes to the pathophysiology of primary intracerebral hemorrhage (PICH). Glutathione peroxidase 1 (GPX1) is a key enzyme of the antioxidant system. Here, we investigated whether a functional C593T polymorphism of GPX1 gene is associated with PICH in a Polish population., Methods: Genotyping was performed in 192 PICH patients and 197 unrelated controls matched for age and sex. All were of Caucasian origin. The C593T GPX1 polymorphism was investigated using the polymerase chain reaction/restriction fragment length polymorphism method., Results: Multivariable logistic regression analysis revealed a significant association between genotypes containing the T allele and the entire PICH group (OR = 1.53; 95% CI = 1.02-2.29) and lobar PICH (OR = 2.36; 95% CI = 1.31-4.26) but not nonlobar PICH (OR = 1.19; 95% CI = 0.75-1.89)., Conclusions: We found a positive association between the studied GPX1 polymorphism and lobar PICH in a Polish population., ((c) 2008 S. Karger AG, Basel.)

Background: Oxidative stress plays a role in atherosclerosis. Human paraoxonase (PON) gene products exhibit antioxidant properties. We studied the significance of the Q192R and M55L polymorphisms of the PON1 gene and the C311S polymorphism of the PON2 gene in different etiologies of ischemic stroke., Methods: One hundred and thirty-six patients with large vessel disease (LVD) stroke, 140 with small vessel disease stroke, 272 with cardioembolic stroke, and their age- and sex-matched controls were included. PON genotypes were evaluated by PCR-RFLP analyses., Results: The distribution of PON1 polymorphisms was similar in each stroke group and in the respective controls. Genotypes with the C allele of the PON2 gene C311S polymorphism were overrepresented in LVD stroke patients as compared with their controls, both in univariate and multivariate (dominant model: OR = 1.58, 95% CI: 1.006-2.48) analyses., Conclusion: The genotype with the C allele of the PON2 gene is a risk factor for LVD stroke in a Polish population., (Copyright 2007 S. Karger AG, Basel.)

Objectives: Data concerning an association between angiotensin-converting enzyme (ACE) gene insertion/deletion (I/D) polymorphism and ischemic stroke (IS) remain inconsistent. Results of some studies suggest that DD genotype may be a risk factor for small vessel disease (SVD) stroke. Here, we investigated whether this polymorphism is associated with IS of different etiologies in a Polish population., Subjects and Methods: Ischemic stroke etiology was established according to the TOAST criteria. We studied 92 stroke patients with large vessel disease and their 184 matched controls; 96 stroke patients with SVD and 192 controls; 180 patients with cardioembolic stroke (CE) and 180 controls. ACE I/D polymorphism was determined using the polymerase chain reaction method., Results: The distribution of ACE genotypes and alleles was essentially the same in all analyzed IS subtypes and their matched controls., Conclusions: We failed to find an association between ACE polymorphism and etiological subtypes of IS in a Polish population.

Background: The human paraoxonase (PON) gene family consists of three members, PON1, PON2, and PON3, located adjacent to each other on chromosome 7. PON catalytic activity may be influenced by frequent amino acid variants. Chronic exposure to certain chemicals or to environmental factors causing enhanced lipid peroxidation metabolized by paraoxonases may be a risk factor for sporadic ALS (sALS)., Objective: The aim of this study was to examine the association between PON1 Q192R, PON1 L55M, and PON2 C311S functional polymorphisms and the risk of sALS in a Polish population., Methods: The authors included 185 patients with a definite or probable diagnosis of sALS (El Escorial Criteria) and 437 healthy controls of similar age and gender. The paraoxonase polymorphisms were studied by PCR and restriction enzyme digestion., Results: Using logistic regression analyses, the C allele of the C311S polymorphism was associated with sALS in dominant and additive models, whereas the R allele of the Q192R polymorphism was associated with sALS in recessive, additive, and dominant models. The authors compared the distribution of haplotypes between cases and controls. The R-C haplotype was overrepresented among cases (odds ratio 3.44, 95% CI: 1.55 to 7.62, p = 0.002)., Conclusions: Frequent amino acid variants in the paraoxonase 1 and paraoxonase 2 genes are associated with sporadic ALS in a Polish population.

Background and Purpose: Genetic factors involved in the pathogenesis of primary intracerebral hemorrhage (PICH) remain unknown. One of the candidate genes is SERPINA3. Results of a Spanish study suggested that TT genotype of the A/T SERPINA3 polymorphism in the signal peptide sequence was a risk factor for PICH in normotensive subjects. The aim of the present study was to investigate whether SERPINA3 A/T polymorphism is associated with PICH in a Polish population., Methods: We analyzed 95 PICH patients and 190 unrelated healthy controls matched for age and sex. A/T polymorphism of the SERPINA3 gene was investigated using polymerase chain reaction restriction fragment length polymorphism method., Results: The distribution of SERPINA3 genotypes was similar among PICH patients (AA 27.4%; AT 46.3%; TT 26.3%) and controls (AA 23.7%; AT 50.5%; TT 25.8%; P=NS). There were also no significant differences in genotype distribution when analyzing separately hypertensive and normotensive PICH patients as well as patients with lobar and deeply located hemorrhage., Conclusions: We failed to find an association between SERPINA3 A/T polymorphism and PICH in a Polish population.

Object: Data concerning an association between the ENG gene intronic insertion polymorphism and intracrahial aneurysms (IAs) remain inconsistent. In this study the authors investigated whether this polymorphism is associated with a subarachnoid hemorrhage (SAH) caused by a ruptured IA in a Polish population., Methods: One hundred nineteen patients with aneurysmal SAH and 119 sex-matched healthy volunteers were studied. The insertion ENG gene polymorphism in intron 7 was identified using polymerase chain reaction-single-strand chain polymorphism method. The distribution of the insertion allele did not differ between the SAH (13%) and control (16%) cases (p = 0.36). The homozygous insertion/insertion genotype frequencies in these cases were 3.4 and 0.8%, respectively (p = 0.18)., Conclusions: The authors failed to find an association between the intronic insertion polymorphism of the ENG gene and aneurysmal SAH in a Polish population.

Background and Purpose: The member 3 of clade A of serine proteinase inhibitors (SERPINA3), known previously as the alpha1-antichymotrypsin, is an acute phase protein, the levels of which increase in acute and chronic inflammation. The A/T polymorphism of the SERPINA3 gene influences expression of SERPINA3 protein. SERPINA3 can be related to aneurysmal subarachnoid hemorrhage (SAH) by influencing inflammation or by regulating cathepsin G activity. We studied the significance of SERPINA3 A/T polymorphism in patients with aneurysmal SAH compared with healthy controls., Methods: A total of 180 patients with aneurysmal SAH and 263 healthy controls were genotyped for the SERPINA3 A/T polymorphism. Aneurysmal SAH was diagnosed by cranial computed tomography or lumbar puncture and digital subtraction angiography. SERPINA3 polymorphism was detected by polymerase chain reaction amplification and restriction enzyme digestion., Results: The SERPINA3 genotype distribution in patients with aneurysmal SAH (AA-29 16.1%; AT-108 60.0%; TT-43 23.9%) differed significantly from controls (AA-70 26.6%; AT-123 46.8%; TT-70 26.6%; P=0.009). A logistic regression model showed that the presence of genotype with T allele (AT+TT; odds ratio [OR], 2.01; 95% CI, 1.19 to 3.38; P=0.009) or AA genotype (OR, 0.49; 95% CI, 0.30 to 0.84; P=0.009) of the SERPINA3 influences the risk for aneurysmal SAH independently from smoking, excessive alcohol consumption, and hypertension., Conclusions: The A/T polymorphism of SERPINA3 gene is associated with the risk factor for aneurysmal SAH.

Genetic factors may play a role in susceptibility to stroke. The angiotensin converting enzyme (ACE) gene is a candidate gene for two phenotypically different types of stroke affecting small perforating arteries: spontaneous intracerebral hemorrhage (SIH) and ischemic stroke due to small vessel disease (SVD). The authors report evidence that ACE gene DD homozygosity of the I/D polymorphism in intron 16 is an independent risk factor for SIH, and not for SVD stroke, in a Polish population.

Background and Purpose: Evidence exists in support of a role of genetic factors in susceptibility to aneurysmal subarachnoid hemorrhage (SAH) in humans. Meta-analysis of 2 previous studies showed that the I allele of angiotensin-converting enzyme (ACE) gene insertion/deletion (I/D) polymorphism was a weak, but significant, risk factor for aneurysmal SAH. Moreover, a recent study has shown that the local renin-angiotensin system (RAS) is involved in the development of intracranial aneurysm. The aim of this study was to investigate the association between ACE I/D polymorphism and a risk for aneurysmal SAH in a Polish population., Methods: Ninety patients with aneurysmal SAH (mean age: 48.9+/-14.0 years) and 128 healthy controls matched for age and sex were genotyped for the ACE I/D polymorphism. Aneurysmal SAH was diagnosed by cranial computed tomography and/or lumbar puncture and digital subtraction angiography. ACE gene polymorphism was detected by polymerase chain reaction amplification of the intron 16-specific I/D fragments, 490-bp and 190-bp, respectively., Results: The ACE genotype distribution in patients with aneurysmal SAH (II, 52.2%; ID, 15.6%; DD, 32.2%) differed significantly from controls (II, 23.4%; ID, 50.8%; DD, 25.8%) (P<0.001). A logistic regression model showed that the II genotype of ACE gene was independent from female sex and smoking as a risk factor for aneurysmal SAH (OR, 4.57; 95% CI, 2.35 to 8.90)., Conclusions: Here we report that II genotype of ACE gene is a risk factor for aneurysmal SAH.

Background and Purpose: Dementia after stroke may be caused by vascular lesion, but preexisting degenerative changes can also influence its development. After stroke, the patients with coexisting Alzheimer-type pathology need appropriate treatment. The aim of the study was to evaluate the frequency of prestroke and new- onset dementia in stroke patients., Methods: We evaluated prestroke dementia in 250 patients with ischemic or hemorrhagic stroke using the Informant Questionnaire on Cognitive Decline in the Elderly (IQCODE). Poststroke dementia was assessed in 220 patients 3 months after stroke by means of the neuropsychological tests and/or IQCODE. The DSM-IV definition of dementia was used., Results: Dementia after stroke was found in 31.4% of stroke patients. Twelve percent of stroke patients had a significant impairment of cognitive functions detected by the IQCODE on admission suggesting prestroke dementia. When we excluded the patients with recurrent stroke, the incidence of pre- and poststroke dementia was 9.3 and 21.2%, respectively., Conclusion: About one tenth of stroke patients have preexisting dementia., (Copyright 2002 S. Karger AG, Basel)