The cholesteryl ester transfer protein (CETP) gene encodes a hydrophobic glycoprotein that plays a crucial role in the reverse transport of cholesterol. The aim of the present study was to determine whether CETP polymorphisms (rs1532624, rs247616 and rs708272) are associated with coronary artery disease (CAD) in a Polish population. Serum lipid levels and single nucleotide polymorphisms of CETP genes were determined in 494 subjects: 248 patients with premature CAD and 246 blood donors as controls. Selected polymorphisms were examined using TaqMan PCR analysis. We found that CAD risk was significantly higher for CC homozygotes and C allele carriers of the rs247616 polymorphism than for carriers with the T allele (OR 1.89, 95% CI 1.29–2.76, p = 0.001 and OR 1.51, 95% CI 1.14–1.99, p = 0.003) and likewise for the CC genotype of the rs1532624 polymorphism than for those with the A allele (OR 1.59, 95% CI 1.05–2.40, p = 0.026). Moreover, T allele carriers of the rs708272 polymorphism had significantly higher total cholesterol levels compared to CC homozygotes (p < 0.05) in the healthy controls. We also observed an allelic pattern, C(rs2477616)C(rs708272)C(rs1532624), which increased susceptibility to CAD by 43% (OR = 1.43, 95% CI 1.10–1.85, p = 0.006). In conclusion, the rs247616 and rs1532624 polymorphisms of CETP may modulate the risk of CAD in Polish population.

Drug-resistant epilepsies still remain one of the most profound problems of contemporary epileptology. Several mechanisms of drug resistance are possible; among them, genetic factors have a prominent place. Much importance is attached to genes, which encode enzymes that metabolize antiepileptic drugs CYP 3A, which belong to the family of cytochromes P450 and the genome of multidrug resistance, such as multidrug resistance 1 (MDR1) that expresses P-glycoprotein (P-gp), a drug transporter protein. The aim of the study was to assess the relation between polymorphism of gene CYP3A5 and polymorphism C3435T of MDR1 gene with the occurrence of focal, drug-resistant epilepsy in children and youths up to 18 years of age. The study comprised 85 patients, and their age range was from 33 months to 18 years of age, suffering from epilepsy, partly responding well to treatment, partly drug resistant. The polymorphism of both genes has been analysed using the PCR-RFLP method. The study failed to corroborate association between polymorphism CYP3A5∗3 and C3435T polymorphism in MDR1 gene and pharmacoresistant epilepsy. The results of our research do not confirm the prognostic value of the polymorphisms examined in the prognostication of drug resistance in epilepsies.

Analyzed polymorphisms of coagulation factors are not significant determinants of pediatric IS in the studied population; however, these findings require a confirmation in a larger group of participants.

Background. 7-Alpha cholesterol hydroxylase (CYP7A1), the first enzyme of classic conversion pathway leading from cholesterol to bile acids synthesis, is encoded by CYP7A1 gene. Its single nucleotide polymorphisms (SNPs) influence serum lipid levels and may be related to impaired lipid profile leading to coronary artery disease (CAD). The aim of the present study was to analyze the possible association between the rs7833904 CYP7A1 polymorphism and premature CAD. Material and Methods. Serum lipid levels and rs7833904 SNP were determined in 419 subjects: 200 patients with premature CAD and 219 age and sex matched controls. Results. The A allele carrier state was associated with CAD (OR = 1.76, 95% CI; 1.14–2.71, P = 0.014). The effect was even stronger in the male subgroups (OR = 2.16, 95% CI; 1.28–3.65, P = 0.003). There was no effect in the females. Risk factors of CAD and clinical phenotype of atherosclerosis were not associated with genotype variants of the rs7833904 SNP. Lipid profiles also did not differ significantly between individual genotypes. Conclusion. The CYP7A1 rs7833904 polymorphism may modify the risk of CAD. This effect is especially strong in male subjects. The studied polymorphism does not significantly influence serum lipid levels, in the present study.

Background: The effectiveness of platelet-rich plasma (PRP) injection in the treatment of lateral epicondylitis remains debatable. Purpose: To evaluate the effectiveness of PRP in lateral epicondylitis treatment using minimal clinically important difference (MCID) values as a reference and to investigate if leukocyte content can influence the effectiveness of the therapy. Study Design: Systematic review; Level of evidence, 4. Methods: Following the PRISMA (Preferred Reporting Items for Systematic Reviews and Meta-Analyses) guidelines, the authors searched the Medline and Scopus databases for studies on lateral epicondylitis and PRP therapy that used the following patient-reported outcome measures (PROMs): visual analog scale (VAS) for pain; Disabilities of the Arm, Shoulder and Hand (DASH); Patient-Rated Tennis Elbow Evaluation (PRTEE); and Mayo Clinic Performance Index (MAYO). The weighted arithmetic means for the PROMs were calculated at baseline (week 0) and follow-up weeks 4, 8, 12, 24, 52, and 104. The mean differences in outcomes (ΔVAS, ΔDASH, ΔPRTEE, and ΔMAYO) were compared with the MCID values at each follow-up point. In addition, the effectiveness of leukocyte-rich PRP (LR-PRP) versus leukocyte-poor PRP (LP-PRP) was also compared. The Student t test was used in all analyses. Results: A total of 26 studies were included in the analysis. After PRP injection, all PROM scores improved with time. The scores improved significantly from baseline to each follow-up time ( P < .0001), with the exception of the PRTEE (no significant difference at follow-up weeks 12 and 52). The mean difference in scores from baseline exceeded the respective MCIDs from weeks 4 to 104 for the VAS and DASH, from weeks 4 to 52 for the MAYO, and from weeks 8 to 52 for the PRTEE. The MCID for each of the PROMs was exceeded at almost every observation period in both the LR-PRP and the LP-PRP systems. Conclusion: Based on comparisons with the MCID values of commonly used outcome scores, PRP seems to be an effective form of treatment for lateral epicondylitis. Both the LR- PRP and the LP- PRP systems were effective in the context of meeting the MCID.