Genetical Signature-An Example of a Personalized Skin Aging Investigation with Possible Implementation in Clinical Practice.

We conducted a research study to create the groundwork for personalized solutions within a skin aging segment. This test utilizes genetic and general laboratory data to predict individual susceptibility to weak skin characteristics, leveraging the research on genetic polymorphisms related to skin functional properties. A cross-sectional study was conducted in a collaboration between the Private Clinic Medicina Practica Laboratory (Vilnius, Lithuania) and the Public Institution Lithuanian University of Health Sciences (Kaunas, Lithuania). A total of 370 participants agreed to participate in the project. The median age of the respondents was 40, with a range of 19 to 74 years. After the literature search, we selected 15 polymorphisms of the genes related to skin aging, which were subsequently categorized in terms of different skin functions: SOD2 (rs4880), GPX1 (rs1050450), NQO1 (rs1800566), CAT (rs1001179), TYR (rs1126809), SLC45A2 (rs26722), SLC45A2 (rs16891982), MMP1 (rs1799750), ELN (rs7787362), COL1A1 (rs1800012), AHR (rs2066853), IL6 (rs1800795), IL1Beta (rs1143634), TNF-α (rs1800629), and AQP3 (rs17553719). RT genotyping, blood count, and immunochemistry results were analyzed using statistical methods. The obtained results show significant associations between genotyping models and routine blood screens. These findings demonstrate the personalized medicine approach for the aging segment and further add to the growing literature. Further investigation is warranted to fully understand the complex interplay between genetic factors, environmental influences, and skin aging.

Plasma collection and supply in Europe: Proceedings of an International Plasma and Fractionation Association and European Blood Alliance symposium.

At the symposium organized by the International Plasma and Fractionation Association and European Blood Alliance, experts presented their views and experiences showing that the public sector and its blood establishments may strengthen the collection and increase the supply of plasma using the right strategies in plasma donor recruitment, retention and protection, scaling-up collection by increasing the number of donors within improved/new infrastructure, supportive funding, policies and legislation as well as harmonization of clinical guidelines and the collaboration of all stakeholders. Such approaches should contribute to increased plasma collection in Europe to meet patients' needs for plasma-derived medicinal products, notably immunoglobulins and avoid shortages. Overall, presentations and discussions confirmed that European non-profit transfusion institutions are committed to increasing the collection of plasma for fractionation from unpaid donors through dedicated programmes as well as novel strategies and research.

Antibodies to Hepatitis B core antigen prevalence study in Kazakhstan.

INTRODUCTION: Kazakhstan is being considered medium-endemic for Hepatitis B virus infection (HBV). HBV remains transmissible by direct exposure to infected blood or organic fluids. This cross-sectional study aimed to evaluate the prevalence of anti-HBcore and the risk factors impacting positive anti-HBcore markers among donors at Scientific-Production Center of Transfusiology, Ministry of Healthcare of the Republic of Kazakhstan. MATERIALS AND METHODS: The samples taken from blood donors were tested for anti-HBcore, by the chemiluminescence immunoassay method on the Architect i2000SR (Abbott). In case of positive anti-HBcore, the blood samples were further tested for anti-HBs on the Architect i2000SR (Abbott). Alanine aminotransferase (ALT) indicators were tested by kinetic method on the Biosystems A25 analyzer. Statistical analysis was conducted using R software (version 4.1.1, 2021). RESULTS: Five thousand seven hundred and nine people aged 18-66 years included in the study, the proportion of men and women was 68.17% and 31.83%, respectively. The average age of the participants was 35.7 ± 10.57 years. The prevalence of anti-HBcore among donors was 17.2% (983). Among participants with elevated ALT (170), this marker was determined in 23%, and for donors with normal levels of ALT (5539)-17%. Participants with positive anti-HBcore scores were on average older (41.8 vs. 34.4 years, p < .001) and Kazakhs (88.7% vs. 83.0%, p < .001) by nationality than study participants with negative results of anti-HBcore. CONCLUSIONS: Anti-HBcore prevalence in Kazakhstan (17.2%) compared with other countries (Croatia 7%, France 7%, Germany 9%, Iran 16%, Malaysia 20%, respectively) remains above average. Given the prevalence of HBV and risk factors, it is recommended to include an additional anti-HBcore marker in the mandatory screening of donated blood in the Kazakhstan Republic and improve preventive measures to prevent HBV transmission by blood transfusions.

The Association of CEP135 rs4865047 and NPY2R rs1902491 Single Nucleotide Polymorphisms (SNPs) with Rapid Progression of Proliferative Diabetic Retinopathy in Patients with Type 1 Diabetes Mellitus.

BACKGROUND Diabetic retinopathy has a varied prevalence, severity, and rate of progression. The aim of this study was to determine whether the single nucleotide polymorphisms (SNPs) of the gene encoding a 135-kD centrosomal protein CEP135 rs4865047 and the gene encoding the type 2 NPY protein NPY2R rs1902491 were associated with the development of rapidly progressive proliferative diabetic retinopathy in patients with type 1 diabetes mellitus. MATERIAL AND METHODS Patients with rapidly progressive proliferative diabetic retinopathy (n=48) were included in the study group. The control group (n=84) consisted of diabetes mellitus patients who had no proliferative diabetic retinopathy up to 15 years of diabetes duration. The reference group (n=90) included non-diabetic individuals who matched the study group by age and gender. The SNPs in the three groups were analyzed using real-time polymerase chain reaction (PCR) amplification. RESULTS The analysis of the distribution of genotypes in CEP135 rs4865047 and NPY2R rs1902491 detected significant differences only in the single nucleotide polymorphism rs4865047 genotype between the case and control group in comparison to the reference group. The co-dominant model showed that CEP135 rs4865047 was significantly associated with patients with rapidly progressive proliferative diabetic retinopathy (OR 7.2, 95% CI, 2.28-22.74, p=0.001). No significant association was found for the NPY2R SNP rs1902491 genotype. CONCLUSIONS Our study reports a significant association of the CEP135 single nucleotide polymorphism rs4865047 genotype with rapidly progressive proliferative diabetic retinopathy and the control group. No significant association was found of the NPY2R single nucleotide polymorphism rs1902491 genotype.

ABO blood group polymorphism has an impact on prostate, kidney and bladder cancer in association with longevity.

The aim of the present study was to assess the ABO blood group polymorphism association with prostate, bladder and kidney cancer, and longevity. The following data groups were analyzed: Prostate cancer (n=2,200), bladder cancer (n=1,530), renal cell cancer (n=2,650), oldest-old (n=166) and blood donors (n=994) groups. The data on the ABO blood type frequency and odds ratio in prostate cancer patients revealed a significantly higher blood group B frequency (P<0.05); the pooled men and women, separate men bladder cancer risk was significantly associated with the blood group B (P<0.04); however, no such association was identified in the female patients. The blood group O was observed to have a significantly decreased risk of bladder cancer for females (P<0.05). No significance for the ABO blood group type in the studied kidney cancer patients was identified. A comparison of the oldest-old and blood donor groups revealed that blood group A was significantly more frequent and blood type B was significantly rarer in the oldest-olds (P<0.05). The results of the present study indicated that blood type B was associated with the risk of prostate and bladder cancer, and could be evaluated as a determinant in the negative assocation with longevity. Blood types O and A may be positive factors for increasing the oldest-old age likelihood. The clustering analysis by the ABO type frequency demonstrated that the oldest-olds comprised a separate cluster of the studied groups.

Correlation among decreased regional cerebral oxygen saturation, blood levels of brain injury biomarkers, and cognitive disorder.

Objective This study was performed to investigate the correlation among decreased regional cerebral oxygen saturation (rSO2), blood levels of brain injury biomarkers, and postoperative cognitive disorder (POCD) after cardiac surgery with cardiopulmonary bypass (CPB). Methods This prospective observational study included 59 patients undergoing coronary artery bypass graft surgery with CPB. All patients underwent neuropsychological tests (Mini Mental State Evaluation, Rey Auditory Verbal Learning Test, digit span test, digit symbol substitution test, and Schulte table) the day before and 10 days after the surgery. The blood levels of two brain injury biomarkers, neuron-specific enolase (NSE) and glial fibrillary acidic protein (GFAP), were measured before and 1 day after the surgery. Results The rSO2 decreased during surgery in 21 (35%) patients. POCD was detected in 22 (37%) patients. After the surgery, no significant changes in the GFAP blood level occurred in any patients. No significant correlations were found among the decreased rSO2, increased NSE blood level, and rate of POCD. Conclusion These results suggest that a decrease in rSO2 during cardiac surgery is not necessarily related to the development of POCD or an increased blood level of the brain injury biomarker NSE.

Investigation of TGFßR2 SNP rs4522809, Osteopontin, TGF ß1 and their association with dilatative pathology of ascending thoracic aorta.

BACKGROUND: Dilatative pathology of the ascending thoracic aorta (DPATA) is characterized by the aortic wall expansion more than 1.5 and could be accompanied by aortic wall rupture. Mutations of TGFBR2 gene demonstrated an association with syndromic DPATA and altered pathway of transforming growth factor beta (TGF-ß). Elevated TGF-ß1 level has been found in blood samples in DPATA group. Moreover, elevated osteopontin (OPN) level was associated with mutations of TGFBR2 gene. Based on recently published findings, we aimed to evaluate genotyping results of TGFBR2 rs4522809 and the association with circulating OPN and TGF-ß1 concentrations within DPATA patients. METHODS AND FINDINGS: TGFBR2 SNP genotyping assay was performed by quantitative real-time PCR, TGF-ß1 and OPN concentrations were measured using enzyme-linked immunosorbent assay. Genotyping results showed G allele to be associated with DPATA (p = .01), the presence of G allele significantly increased the possibility of DPATA by 1.67 times (OR = 1.67, 95%, CI = 1.12-2.47). TGF-ß1 concentration was significantly higher in DPATA subjects compared with Reference group (p = 0,001). Finally, we found moderate inverse correlation (r = -0,524) between circulating TGF-ß1 and OPN levels within DPATA subjects (p = 0,002), as increasing levels of TGF-ß1 cytokine significantly decrease concentration of OPN. CONCLUSIONS: This is the first report on the association between previously defined TGFßR2 SNP rs4522809 linked with dilatation of ascending thoracic aorta. Also, for the first time we report the inversed correlation between circulating TGF-ß1 and OPN concentrations in DPATA subjects indicating the possible biomarkers for DPATA.

Association between Fibrillin1 Polymorphisms (rs2118181, rs10519177) and Transforming Growth Factor ß1 Concentration in Human Plasma.

Transforming growth factor (TGF)-ß1 is a cytokine that participates in a broad range of cellular regulatory processes and is associated with various diseases including aortic aneurysm. Increased TGF-ß1 levels are linked to Marfan syndrome (MFS) caused by fibrillin1 (FBN1) mutations and subsequent defects in signaling system. FBN1 single nucleotide polymorphisms (SNPs) rs2118181 and rs1059177 do not cause MFS but are associated with dilative pathology of aortic aneurysms (DPAAs). TGF-ß1 and FBN1 SNPs rs2118181 and rs1059177 are potential biomarkers for early diagnosis of DPAA. We investigated the relationship between TGF-ß1 levels in human blood plasma and FBN1 rs2118181 and rs1059177 in 269 individuals. The results showed a quantitative dependence of SNP genotype and TGF-ß1 concentration. Presence of a single rs2118181 minor allele (G) increased the amount of TGF-ß1 by roughly 1 ng/mL. Two copies of FBN1 rs1059177 minor allele (G) were required to have an additive effect on TGF-ß1 levels. We found higher TGF-ß1 concentrations in men compared with women (p = 0.001). A strong correlation between TGF-ß1 levels and FBN1 SNPs suggests that a single nucleotide substitution in FBN1 sequence might reduce bioavailability or binding properties of fibrillin-1 and have an effect on TGF-ß1 activation and cytokine concentration in blood plasma. By establishing the relationship between TGF-ß1 and FBN1 SNPs rs2118181 and rs1059177, we provide evidence that their combination might be used as molecular biomarkers to identify patients at risk for sporadic ascending aortic aneurysm and aortic dissection.

Blood Plasma TGF- ß1 Concentration in Sporadic Dilatative Pathology of Ascending Aorta: More Questions than Answers.

Transforming growth factor ß1 (TGF- ß1) is a cytokine that participates in a broad range of cellular regulatory processes and is associated with various diseases including aortic aneurysm. Increased TGF- ß1 levels are associated with Marfan syndrome (MFS) caused by FBN1 mutations and subsequent defects in signaling system. We studied TGF- ß1 levels in 62 patients with sporadic, non syndromic, dilatative pathology of ascending aorta (DPAA) and in reference group subjects (n = 212). An initial screening of 212 reference individuals identified TGF- ß1 gender discrepancies and age-dependent cytokine increase in women. Patients with DPAA had increased levels of TGF- ß1 in comparison to reference group subjects (median 7.7 ng/ml, range 2.1-25.3, and median 6.2 ng/ml, range 1.0-33.1, respectively). There is a significant association between TGF-ß1 concentration and DPAA (OR 1.084, CI 1.027-1.144, p = 0.004) but the mechanisms of cause and effect have not been established yet. Slightly increased TGF-ß1 concentrations in patients with sporadic DPAA in comparison to the reference subjects show a potential use of TGF-ß1 as a biomarker for the disease. However, cytokine dependence on age, gender, and other unknown factors among individuals with no cardiovascular complains reduces its specificity for DPAA. We would also like to raise awareness regarding the choice of methods when measuring TGF-ß1 levels with an emphasis on preanalytical phase and the choice of sample.

FBN1 polymorphisms in patients with the dilatative pathology of the ascending thoracic aorta.

OBJECTIVES: To investigate polymorphisms of the fibrillin-1 (FBN1) gene (namely, rs2118181, rs1036477, rs10519177, rs755251 and rs4774517) in a case-control study for dilatative pathology of the ascending thoracic aorta (DPATA) from Lithuanians. METHODS: We studied 312 patients who had undergone aortic reconstructive surgery for DPATA. These patients were sub-divided according to the phenotypes of their DPATA into (i) ascending aortic aneurysm (n = 160), (ii) post-stenotic dilatation of the ascending aorta due to aortic valve stenosis (n = 79) and (iii) Stanford A dissection (n = 73). The reference group (n = 472) was recruited from a random sample screened within epidemiological studies of the Lithuanian population. FBN1 polymorphisms were studied by real-time polymerase-chain-reaction amplification. RESULTS: Patients within the aortic dissection sub-group had significantly higher minor allele frequencies in all five FBN1 single nucleotide polymorphism (SNPs) studied versus reference group subjects (P < 0.0001). Minor allele frequencies in SNPs rs2118181, rs1036477 were significantly higher in those with aortic aneurysm when compared with the reference group (P = 0.007). Thus, minor alleles of FBN1 SNPs studied were significantly associated with aortic dissection with odds ratios (ORs) 2.59-2.13, P < 0.001, while SNPs rs2118181 and rs1036477 with an increased risk of ascending aortic aneurysm [OR 1.67, confidence interval (CI) 95% 1.61-2.40]. The association of FBN1 genotypes with each phenotype of DPATA was assessed using logistic regression models adjusted for gender, age and hypertension. The additive model best fitted SNPs rs2118181 and rs1036477 in association with the ascending aortic aneurysm sub-group (OR 1.70, CI 95% 1.17-2.46) or the Stanford A dissection sub-group (OR 2.64, CI 95% 1.66-4.19). A recessive model fitted best the association between SNPs rs10519177, rs755251, rs4774517 and Stanford A dissection (OR 4.31, CI 95% 2.06-9.01). There were no significant associations between all studied FBN1 SNPs and post-stenotic or bicuspid aortic dilatation. CONCLUSIONS: Our study provides evidence for the following: (i) FBN1 SNPs rs2118181, rs1036477, rs10519177, rs4774517, rs755251 may increase susceptibility to aortic dissections and (ii) FBN1 SNPs rs2118181, rs1036477 to the formation of aortic aneurysms. Thus, these SNPs might be considered as biomarkers for identifying patients at risk for ascending aortic aneurysm and aortic dissection.