Anna Niemcunowicz-Janica

Population genetics of 15 STR loci in the population of Podlasie (NE Poland)

Allele frequencies for 15 STR loci included in AmpFlSTR Profiler and AmpFlSTR SGM Plus kits were determined in a sample of 413 unrelated individuals living in the region of Podlasie (NE Poland)

Polymorphism of 9p21.3 Locus Is Associated with 5-Year Survival in High-Risk Patients with Myocardial Infarction

Objective The rs1333049, rs10757278 and rs4977574 are single nucleotide polymorphisms (SNPs) of chromosome 9p21 locus that are associated with prevalence of acute coronary syndromes (ACS). The rs1333049 SNP was also associated with cardiac outcome 6 months post ACS. No data concerning their association with long term prognosis after myocardial infarction is available. The aim of our study was to investigate the association of the 9p21.3 locus with 5-year overall mortality in patients with ST-elevation myocardial infarction (STEMI) treated invasively. Materials and Methods We performed a retrospective analysis of data collected prospectively in a registry of consecutive patients with STEMI treated with primary PCI. Genotyping was performed with a TaqMan method. The analyzed end-point was total 5-year mortality. Results The study group comprised 589 patients: 25.3% of females (n = 149), mean age 62.4±11.9 years, total 5-year mortality 16.6% (n = 98). When all the study group was analyzed, no significant differences in mortality were found between the genotypes. However, in high-risk patients (Grace risk score ≥155 points, n = 238), low-risk homozygotes had significantly better 5-year survival compared to other genotypes. The hazard ratio associated with high-risk genotype (high-risk homozygote or heterozygote) was: HR = 2.9 (95%CI 1.4–6.1) for the rs4977574 polymorphism, HR = 2.6 (1.25–5.3) for the rs1333049 one and HR = 2.35 (1.2–4.6) for the rs10757278 one (Cox proportional hazards model). Conclusions The 9p21.3 locus is associated with 5-year mortality in high-risk patients with STEMI. This finding, due to very high effect size, could potentially be applied into clinical practice, if appropriate methods are elaborated.

Equilibria of Phosphatidylcholine − Ca2+ Ions in Monolayer at the Air/Water Interface

The effect of Ca(2+) ion interaction with monolayers of phosphatidylcholine (lecithin, L) was investigated at the air/water interface. We present surface tension measurements of lecithin monolayers obtained using a Langmuir method as a function of Ca(2+) ion concentration. The measurements were carried out at 22 degrees C using a Teflon trough and a Nima 9000 tensiometer. The interactions between lecithin and Ca(2+) ions result in significant deviations from the additivity rule. An equilibrium theory to describe the behavior of monolayer components at the air/water interface was developed in order to obtain the stability constants and area occupied by one molecule of LCa(+) and L(2)Ca complexes. The stability constants, K(1) = 1.92 x 10(3) m(2) mol(-1) and K(2) = 5.35 x 10(5) m(2) mol(-1) were calculated by inserting the experimental data. The value of area occupied by one LCa(+) complex is 65 A(2) molecule(-1), while the area occupied by an L(2)Ca complex is 117 A(2) molecule(-1).

X-chromosomal polymorphism data for the ethnic minority of Polish Tatars and the religious minority of Old Believers residing in northeastern Poland

Population samples of 420 unrelated individuals of the ethnic minority of Polish Tatars and the religious minority of Old Believers residing in northeastern Poland were tested for four X-chromosomal STR frequencies by multiplex PCR and subsequent automated fluorescent detection (ABI 310) using a commercially available kit Mentype Argus X-UL. Kinship tests revealed a typical X-linked inheritance with no mutation. Significant differences in allele frequency distributions confirm previous findings regarding genetic variation among ethnic groups residing in northeastern Poland.

The rs12526453 Polymorphism in an Intron of the PHACTR1 Gene and Its Association with 5-Year Mortality of Patients with Myocardial Infarction

Objective The rs12526453 (C/G) is a single nucleotide polymorphism in an intron of the PHACTR1 gene (phosphatase and actin regulator 1). The C allele is associated with increased risk of coronary artery disease in an unknown mechanism. We investigated its association with long-term overall mortality in patients with ST-elevation myocardial infarction (STEMI) treated invasively. Methods Two independent groups of patients with STEMI were analyzed: a derivation group (n= 638) and a validation one (n=348). Genotyping was performed with the TaqMan method. The analyzed end-point was total long term mortality. Additionally, transcriptomic analysis was performed in mononuclear blood leukocytes from rs12526453 CC monozygotes or G allele carriers. Results In the study group (mean age 62.3 ± 11.9 years; 24.9% of females, n=159), percentages of CC, CG, and GG genotypes were 45.3% (n=289), 44.7% (n=285), and 10% (n=64), respectively. In the 5-year follow-up 105 patients died (16.46%). CC homozygotes had significantly lower mortality compared to other genotypes: 13.1% (n=38) vs. 18.3% in G-allele carriers (n=67), (p=0.017, Cox`s F test). In the validation group 47 patients died within 3 years (13.5%). We confirmed lower mortality of CC homozygotes: 10.1 % (n=18) vs. 16.95% in G-allele carriers (n=29), (p=0.031, Cox`s F test). Transcriptomic analysis revealed a markedly higher expression of NLRP-2 in CC homozygotes. Conclusions The rs12526453 CC homozygotes (previously associated with increased risk of myocardial infarction) showed, in 2 independent samples, better long-term survival. The finding of such high effect size, after appropriate validation, could potentially be translated into clinical practice.

The Effect of Fatal Carbon Monoxide Poisoning on the Surface Charge of Blood Cells

The objective of this investigation was to evaluate postmortem changes of electric charge of human erythrocytes and thrombocytes after fatal carbon monoxide (CO) poisoning. The surface charge density values were determined on the basis of the electrophoretic mobility measurements of the cells carried out at various pH values of electrolyte solution. The surface charge of erythrocyte membranes after fatal CO poisoning as well as after sudden unexpected death increased compared to the control group in the whole range of experimental pH values. Also, a slight shift of the isoelectric point of erythrocyte membranes to high pH values was observed. The surface charge of thrombocyte membranes after fatal CO poisoning decreased at low pH compared to the control group. However, at high pH, the values increased compared to the control group. The isoelectric point of thrombocyte membranes after fatal CO poisoning was considerably shifted toward low pH values compared to the control group. The observed changes are probably connected with the destruction of blood cell structure.

Changes in surface-charge density of blood cells after sudden unexpected death.

The objective of the investigation was evaluation of postmortem changes of electric charge of human erythrocyte and thrombocyte membranes after sudden unexpected death. The surface charge density values were determined on the basis of the electrophoretic mobility measurements of the cells carried out at various pHs of electrolyte solution. The interactions between both erythrocyte and thrombocyte membranes and electrolyte ions were studied. Values of parameters characterizing the membrane—that is, the total surface concentrations of both acidic and basic groups and their association constants with solution ions—were calculated on the basis of a four-equilibria mathematical model. The model was validated by comparison of these values to experimental data. We established that examined electric properties of the cell membranes are affected by sudden unexpected death. Postmortem processes occurring in the cell membranes can lead to disorders of existing equilibria, which in turn result in changes in values of all the above-mentioned parameters.

Comparison of contrast-enhanced ultrasonography with grey-scale ultrasonography and contrast-enhanced computed tomography in diagnosing focal fatty liver infiltrations and focal fatty sparing

PURPOSE Fatty liver infiltrations and fatty sparing impair diagnostic performance of grey-scale ultrasonography in differentiating malignant and benign focal liver lesions. In the study, we present our experience in diagnosing focal fatty liver infiltrations and focal fatty sparing with contrastenhanced ultrasonography (CEUS) in comparison to grey-scale ultrasonography and contrast-enhanced computed tomography (CECT). MATERIAL AND METHOD The retrospective study group (n=82 patients), included 44 (53.7%) men, 38 (46.3%) women (aged 29- 81 years, mean 55.8 years) with 48 focal fatty liver infiltrations and 34 focal fatty sparing. All patients underwent grey-scale ultrasonography (US), CEUS using SonoVue® and CECT executed within the 7 days. RESULTS With US, CEUS and CECT focal fatty liver infiltrations were diagnosed in 22, 46 and 44 cases, respectively. The following values were obtained: sensitivity - 45.8%, 95.8% and 91.7%, specificity - 100% for all, accuracy - 95.2%, 99.6% and 99.3%, respectively. Focal fatty sparing was diagnosed in 16, 31 and 30 cases, respectively. The following values were obtained: sensitivity - 47.1%, 91.2% and 88.2%, specificity - 99.8%, 100% and 100%, accuracy - 95.6%, 99.4% and 99.3%, respectively. No statistically significant differences were found in sensitivity of diagnosing focal fatty liver infiltrations and focal fatty liver sparing between CEUS and CECT. Sensitivity of grey-scale ultrasonography was significantly lower when compared to those of CEUS and CECT (p<0.001). CONCLUSION CEUS is as sensitive as CECT in focal fatty infiltrations and focal fatty sparing diagnosing. However, CEUS provides more information than CECT about the vasculature and enhancement pattern of focal fatty liver infiltrations.

The rs1801133 polymorphism of methylenetetrahydrofolate reductase gene- the association with 5-year survival in patients with ST-elevation myocardial infarction.

PURPOSE Methylenetetrahydrofolate reductase (MTHFR) is an enzyme involved in endothelial nitric oxide synthase (eNOS) coupling and homocysteine metabolism. The rs1801133 polymorphism of the MTHFR gene affects risk of coronary artery disease. We assessed its influence on 5-year survival of patients with ST-elevation acute myocardial infarction (STEMI). MATERIAL/METHODS The study group comprised consecutive patients with STEMI. Genotyping was performed with a TaqMan SNP Genotyping Assay using the ABI 7500 Real Time PCR System (Applied Biosystems). The analyzed end-point was all-cause 5-year survival. RESULTS The study group comprised 637 patients (mean age 62.3 ± 11.9 years; 25.1% females, n=160; 5-year mortality 16.3%, n=104). The percentages of TT, CT and CC genotypes were: 10.8 (n=69), 39.7 (n=253) and 49.45 (n=315), respectively. No significant differences in clinical characteristics were identified between the genotypes (p>0.05 for all parameters). Eleven (15.9%) TT homozygotes, 40 (15.8%) heterozygotes and 53 (16.8%) CC homozygotes died during follow up (p=0.99 log-rank test). TT homozygotes presented only weak and insignificant tendency towards higher mortality rates in subgroups of patients ≤75 years old (15.6 vs. 11.54%, p=0.35) or with intermediate risk according to the GRACE risk score (13.3% vs. 8.76%, p=0.42). CONCLUSIONS The rs1801133 polymorphism did not show significant association with 5-year survival.

Lysosomal exoglycosidases in nasal polyps.

INTRODUCTION Nasal polyps are smooth outgrowths assuming a shape of grapes, formed from the nasal mucosa, limiting air flow by projecting into a lumen of a nasal cavity. Up to now the surgical resection is the best method of their treatment, but etiology and pathogenesis of the nasal polyps is not yet fully established. AIM OF THE STUDY The aim of the study was the assessment of the selected lysosomal exoglycosidases activity in the nasal polyps. In this study the activity of β-galactosidase, α-mannosidase and α-fucosidase was determined in the tissue of the nasal polyps obtained from 40 patients (10F, 30M) and control tissues derived from mucosa of lower nasal conchas obtained during mucotomy from 20 patients (10F, 10M). RESULTS We observed significant lower values of GAL, FUC and tendency to decrease of MAN and GLU concentration in nasal polyps (P) in comparison to control healthy nasal mucosa (C). In nasal polyp tissue (P) no differences of GAL, MAN and FUC specific activity in comparison to control mucosa (C) were found. CONCLUSIONS Our research supports bioelectrical theory of the nasal polyps pathogenesis and directs attention at research on glycoconjugates and glycosidases of the nasal mucosa extracellular matrix.