Gut microbiota alterations in stable outpatients with schizophrenia: findings from a case-control study.

OBJECTIVE: The pathogenesis of schizophrenia is multidimensional and intensively studied. The gut-brain axis disturbances might play a significant role in the development of schizophrenia. METHODS: We compared the gut microbiota of 53 individuals with schizophrenia and 58 healthy controls, using the 16S rRNA sequencing method. Individuals with schizophrenia were assessed using the following scales: the Positive and Negative Syndrome Scale, the Calgary Depression Scale for Schizophrenia, the Social and Occupational Functioning Assessment Scale and the Repeatable Battery for the Assessment of Neuropsychological Status. RESULTS: No significant between-group differences in α-diversity measures were observed. Increased abundance of Lactobacillales (order level), Bacilli (class level) and Actinobacteriota (phylum level) were found in individuals with schizophrenia regardless of potential confounding factors, and using two independent analytical approaches (the distance-based redundancy analysis and the generalised linear model analysis). Additionally, significant correlations between various bacterial taxa (the Bacteroidia class, the Actinobacteriota phylum, the Bacteroidota phylum, the Coriobacteriales order and the Coriobacteria class) and clinical manifestation (the severity of negative symptoms, performance of language abilities, social and occupational functioning) were observed. CONCLUSIONS: The present study indicates that gut microbiota alterations are present in European patients with schizophrenia. The abundance of certain bacterial taxa might be associated with the severity of negative symptoms, cognitive performance and general functioning. Nonetheless, additional studies are needed before the translation of our results into clinical practice.

Analysis of correlations between gut microbiota, stool short chain fatty acids, calprotectin and cardiometabolic risk factors in postmenopausal women with obesity: a cross-sectional study.

BACKGROUND: Microbiota and its metabolites are known to regulate host metabolism. In cross-sectional study conducted in postmenopausal women we aimed to assess whether the microbiota, its metabolites and gut barrier integrity marker are correlated with cardiometabolic risk factors and if microbiota is different between obese and non-obese subjects. METHODS: We analysed the faecal microbiota of 56 obese, postmenopausal women by means of 16S rRNA analysis. Stool short chain fatty acids, calprotectin and anthropometric, physiological and biochemical parameters were correlates to microbiome analyses. RESULTS: Alpha-diversity was inversely correlated with lipopolysaccharide (Rho = - 0.43, FDR P (Q) = 0.004). Bray-Curtis distance based RDA revealed that visceral fat and waist circumference had a significant impact on metabolic potential (P = 0.003). Plasma glucose was positively correlated with the Coriobacteriaceae (Rho = 0.48, Q = 0.004) and its higher taxonomic ranks, up to phylum (Actinobacteria, Rho = 0.46, Q = 0.004). At the metabolic level, the strongest correlation was observed for the visceral fat (Q < 0.15), especially with the DENOVOPURINE2-PWY, PWY-841 and PWY0-162 pathways. Bacterial abundance was correlated with SCFAs, thus some microbiota-glucose relationships may be mediated by propionate, as indicated by the significant average causal mediation effect (ACME): Lachnospiraceae (ACME 1.25, 95%CI (0.10, 2.97), Firmicutes (ACME 1.28, 95%CI (0.23, 3.83)) and Tenericutes (ACME - 0.39, 95%CI (- 0.87, - 0.03)). There were significant differences in the distribution of phyla between this study and Qiita database (P < 0.0001). CONCLUSIONS: Microbiota composition and metabolic potential are associated with some CMRF and fecal SCFAs concentration in obese postmenopausal women. There is no unequivocal relationship between fecal SCFAs and the marker of intestinal barrier integrity and CMRF. Further studies with appropriately matched control groups are warranted to look for causality between SCFAs and CMRF.

The gut microbiota is associated with the small intestinal paracellular permeability and the development of the immune system in healthy children during the first two years of life.

BACKGROUND: The intestinal barrier plays an important role in the defense against infections, and nutritional, endocrine, and immune functions. The gut microbiota playing an important role in development of the gastrointestinal tract can impact intestinal permeability and immunity during early life, but data concerning this problem are scarce. METHODS: We analyzed the microbiota in fecal samples (101 samples in total) collected longitudinally over 24 months from 21 newborns to investigate whether the markers of small intestinal paracellular permeability (zonulin) and immune system development (calprotectin) are linked to the gut microbiota. The results were validated using data from an independent cohort that included the calprotectin and gut microbiota in children during the first year of life. RESULTS: Zonulin levels tended to increase for up to 6 months after childbirth and stabilize thereafter remaining at a high level while calprotectin concentration was high after childbirth and began to decline from 6 months of life. The gut microbiota composition and the related metabolic potentials changed during the first 2 years of life and were correlated with zonulin and calprotectin levels. Faecal calprotectin correlated inversely with alpha diversity (Shannon index, r = - 0.30, FDR P (Q) = 0.039). It also correlated with seven taxa; i.a. negatively with Ruminococcaceae (r = - 0.34, Q = 0.046), and Clostridiales (r = - 0.34, Q = 0.048) and positively with Staphylococcus (r = 0.38, Q = 0.023) and Staphylococcaceae (r = 0.35, Q = 0.04), whereas zonulin correlated with 19 taxa; i.a. with Bacillales (r = - 0.52, Q = 0.0004), Clostridiales (r = 0.48, Q = 0.001) and the Ruminococcus (torques group) (r = 0.40, Q = 0.026). When time intervals were considered only changes in abundance of the Ruminococcus (torques group) were associated with changes in calprotectin (ß = 2.94, SE = 0.8, Q = 0.015). The dynamics of stool calprotectin was negatively associated with changes in two MetaCyc pathways: pyruvate fermentation to butanoate (ß = - 4.54, SE = 1.08, Q = 0.028) and Clostridium acetobutylicum fermentation (ß = - 4.48, SE = 1.16, Q = 0.026). CONCLUSIONS: The small intestinal paracellular permeability, immune system-related markers and gut microbiota change dynamically during the first 2 years of life. The Ruminococcus (torques group) seems to be especially involved in controlling paracellular permeability. Staphylococcus, Staphylococcaceae, Ruminococcaceae, and Clostridiales, may be potential biomarkers of the immune system. Despite observed correlations their clear causation and health consequences were not proven. Mechanistic studies are required.

Analysis of clinicopathologic characteristics of gastric cancer in patients ≤40 and ≥40 years of age.

Objectives: Gastric cancer (GC) in young patients is a troubling clinical problem. The aim of this study was to analyze whether patients ≤40 years of age with GC differ from patients (age >40 years) in terms of clinicopathological and selected genetic factors.Materials and methods: Between 1984 and 2011, data were collected for 840 GC patients diagnosed and treated for GC at the Department of Gastroenterology at Pomeranian Medical University. The following clinicopathological features were compared between two age groups: sex, symptom duration, family history of cancer, tumor site, stage (early vs. advanced), blood group, histology, Helicobacter pylori infection and BRCA2 C572T silent mutation status.Results: A total of 65 (7.7%) patients were age 40 years or younger. GC was predominant in women in the younger group (p < .001). Patients (≤40 years) more frequently reported a positive family history of cancer (p = .01) and a diffuse tumor type was more common in this group (p < .001). The two age groups did not differ significantly regarding symptom duration, tumor location or stage, H. pylori infection, blood group, or BRCA2 C572T silent mutation status. A comparison of male and female patients aged 40 years or less did not reveal sex-based differences in any analyzed features.Conclusion: Patients ≤40 years of age with GC differ from patient >40 years of age in having a predominance of women, diffuse tumor type, and positive family history of cancer. These results offer openings for further investigation of the relevance of these differences.

The study evaluating the effect of probiotic supplementation on the mental status, inflammation, and intestinal barrier in major depressive disorder patients using gluten-free or gluten-containing diet (SANGUT study): a 12-week, randomized, double-blind, and placebo-controlled clinical study protocol.

BACKGROUND: Current treatment of major depressive disorder (MDD) often does not achieve full remission of symptoms. Therefore, new forms of treatment and/or adjunct therapy are needed. Evidence has confirmed the modulation of the gut-brain-microbiota axis as a promising approach in MDD patients. The overall purpose of the SANGUT study-a 12-week, randomized, double-blind, and placebo-controlled Study Evaluating the Effect of Probiotic Supplementation on the Mental Status, Inflammation, and Intestinal Barrier in Major Depressive Disorder Patients Using Gluten-free or Gluten-containing Diet - is to determine the effect of interventions focused on the gut-brain-microbiota axis in a group of MDD patients. METHODS: A total of 120 outpatients will be equally allocated into one of four groups: (1) probiotic supplementation+gluten-free diet group (PRO-GFD), (2) placebo supplementation+ gluten-free diet group (PLA-GFD), (3) probiotic supplementation+ gluten containing diet group (PRO-GD), and (4) placebo supplementation+gluten containing diet group (PLA-GD). PRO groups will receive a mixture of psychobiotics (Lactobacillus helveticus R0052 and Bifidobacterium longum R0175), and GFD groups will follow a gluten-free diet. The intervention will last 12 weeks. The primary outcome measure is change in wellbeing, whereas the secondary outcome measures include physiological parameters. DISCUSSION: Microbiota and its metabolites have the potential to influence CNS function. Probiotics may restore the eubiosis within the gut while a gluten-free diet, via changes in the microbiota profile and modulation of intestinal permeability, may alter the activity of microbiota-gut-brain axis previously found to be associated with the pathophysiology of depression. It is also noteworthy that microbiota being able to digest gluten may play a role in formation of peptides with different immunogenic capacities. Thus, the combination of a gluten-free diet and probiotic supplementation may inhibit the immune-inflammatory cascade in MDD course and improve both psychiatric and gut barrier-associated traits. TRIAL REGISTRATION: NCT03877393 .

Polymorphism of Interleukin 1B May Modulate the Risk of Ischemic Stroke in Polish Patients.

Background and Objectives: Inflammation plays a crucial role in the pathophysiology of ischemic stroke (IS). Interleukin-1B and interleukin-1 receptor antagonists are key factors in inflammatory processes. Aims: The aims of our study were to evaluate the relationship between genetic variation in interleukin-1B (IL1B) rs1143627 and interleukin-1 receptor antagonist (IL1RN) variable-number-tandem-repeats (VNTR), and overall IS and subtype prevalence rates. Materials and Methods: The analysis included 147 hospitalized Polish patients with IS diagnosed using conventional criteria. The control group consisted of 119 healthy subjects. Genotypes were determined by polymerase chain reaction. Results: A significant association between rs1143627 and stroke was found. The -31C IL1B polymorphism showed an association with overall IS, OR = 2.30 (1.36-3.87) p = 0.020. An association was also detected for LVI (large vessel infarction) subtypes of stroke. After risk factor adjustment (age, diabetes mellitus, dyslipidemia), the C allele was found to be an independent risk factor for LVI, OR = 1.99 (1.05-3.79) p = 0.036. Significant association was not observed between IL1RN alleles and IS. Conclusions: Our results suggest that the C allele of IL1B rs1143627 may be associated with susceptibility to overall IS and LVI subtypes of stroke in the Polish population.

The VEGFA gene and anterior cruciate ligament rupture risk in the Caucasian population.

The aim of the present study was to analyse VEGFA rs699947, rs1570360, and rs2010963 polymorphisms with susceptibility to anterior cruciate ligament rupture (ACLR) in a Polish population. The study included 412 physically active Caucasian participants. The study group consisted of 222 individuals with surgically diagnosed primary ACLR qualified for ligament reconstruction (ACLR group). The control group consisted of 190 apparently healthy participants without any history of ACLR (CON group). Three polymorphisms within the VEGFA (rs699947, rs1570360, and rs2010963) gene were chosen for investigation due to their significance in the angiogenesis signalling pathway and previous associations with risk of ACLRs. Both single-locus and haplotype-based analyses were conducted. No significant differences in the allele and genotype frequency distributions were noted for the rs699947 and rs1570360 polymorphisms. In contrast, rs2010963 was associated with risk of ACLR in the codominant (p=0.047) and recessive model (p=0.017). In the latter, the CC genotype was overrepresented among individuals with ACL rupture (23.4% vs 14.2%, OR=1.85 [1.11-3.08]). Two VEGFA haplotypes were associated with ACLR under the additive (global score=11.39, p=0.022) and dominant model (global score=11.61, p=0.020). The [C;G;G] haplotype was underrepresented in the ACLR group (52.2% vs. 60.3%), whereas the [C;G;C] haplotype was overrepresented (2.9% vs 0.5%). The results obtained suggest a potential correlation between the VEGFA rs2010963 polymorphism and ACLR risk, suggesting that harbouring this specific C allele may be an unfavourable risk factor for a knee injury in Caucasian participants from Poland.

Associations between the dopamine D4 receptor gene polymorphisms and personality traits in elite athletes.

Personality traits and temperament may affect sports performance. Previous studies suggest that dopamine may play an important role in behavior regulation and physical exercise performance. The aim of this study is to determine associations between dopamine D4 receptor gene (DRD4 Ex3) polymorphisms and personality traits (such as neuroticism, extraversion, openness, agreeability and conscientiousness) in elite combat athletes. A total of 302 physically active, unrelated, self-reported Caucasian participants were recruited for this study. The participants consisted of 200 elite male combat athletes and 102 healthy male participants (control group). For personality trait measurements, the NEO Five-Factor Personality Inventory (NEO-FFI) and the State-Trait Anxiety Inventory questionnaires were used. For the genetic assays, blood was collected and all samples were genotyped using the real-time PCR method. A 2 x 3 factorial ANOVA revealed statistically significant differences on the Openness NEO Five Factor Inventory scale for both examined factors, i.e. sport status and genetics DTD4 Ex3. Combat athletes achieved higher scores on the Conscientiousness NEO-FFI scale when compared to controls (7.18 vs 5.98). On the other hand, combat athletes scored lower on the Openness scale in comparison with control group (4.42 vs. 4.63). Subjects with the DRD4 Ex3 s/s genotype had lower results on the openness scale in comparison with participants with the DRD4 Ex3 s/1 genotype (4.01 vs. 4.57) and higher DRD4 Ex3 1/1 genotype (4,01 vs. 3,50). In conclusion, we found an association between the dopamine D4 receptor gene in variable number tandem repeat (VNTR) polymorphisms and athletic status for two NEO-FFI factors: Openness and Conscientiousness. The DRD4 exon 3 polymorphism may be associated with the selected personality traits in combat athletes, thereby modulating athletes' predisposition to participate in high risk sports.

Are IL1B, IL6 and IL6R Gene Variants Associated with Anterior Cruciate Ligament Rupture Susceptibility?

Cytokines, such as interleukins, are crucial in regulating critical cell signaling pathways as well as being major contributors to inflammatory response and are upregulated during ligament and tendon injuries. The genes encoding key interleukins, such as IL1B and IL6 as well as interleukin receptor IL6R, were chosen as candidate genes for association with soft tissue injuries. The aim of the case-control study was to verify the hypothesis that sequence variants rs1143627, rs16944, rs1800795, rs2228145 in the IL1B, IL6 and IL6R genes are associated with ACL rupture susceptibility in a Polish population. Among four analyzed SNPs, the rs1800795 IL6 gene polymorphism was found to be the only one significantly associated with ACL rupture (p = 0.010, p = 0.022, p = 0.004 for codominant, recessive and overdominant models, respectively; odds ratio = 1.74, 95% CI 1.08-2.81, sex adjusted p = 0.032 for recessive model). With reference to the other analyzed polymorphisms, we failed to show significant differences in the genotype and allele frequencies for IL6R rs2228145as well as IL1B rs16944 and rs1143627 (analyzed alone or in haplotype combination) between the ACL rupture group and the healthy control group among Polish participants. Due to the nature of case-control studies, the results of this study need to be confirmed in independent studies with larger sample sizes.

Tissue factor levels and the fibrinolytic system in thin and thick intraluminal thrombus and underlying walls of abdominal aortic aneurysms.

BACKGROUND: The hemostatic system cooperates with proteolytic degradation in processes allowing abdominal aortic aneurysm (AAA) formation. In previous studies, it has been suggested that aneurysm rupture depends on intraluminal thrombus (ILT) thickness, which varies across each individual aneurysm. We hypothesized that hemostatic components differentially accumulate in AAA tissue in relation to ILT thickness. Thick (A1) and thin (B1) segments of ILTs and aneurysm wall sections A (adjacent to A1) and B (adjacent to B1) from one aneurysm sac were taken from 35 patients undergoing elective repair. METHODS: Factor levels were measured using enzyme-linked immunosorbent assay of protein extract. RESULTS: Tissue factor (TF) activities were significantly higher in thinner segments of AAA (B1 vs A1, P = .003; B vs A, P < .001; B vs A1, P < .001; B vs B1, P = .001). Significantly higher tissue plasminogen activator was found in thick thrombus-covered wall segments (A) than in B, A1, and B1 (P = .015, P < .001, and P < .001, respectively). Plasminogen concentrations were highest in ILT. Concentrations of α2-antiplasmin in thin ILT adjacent walls (B) were higher compared with wall (A) adjacent to thick ILT (P = .021) and thick ILT (A1; P < .001). Significant correlations between levels of different factors were mostly found in thick ILT (A1). However, no correlations were found at B sites, except for a correlation between plasmin and TF activities (r = 0.55; P = .004). CONCLUSIONS: These results suggest that higher TF activities are present in thinner AAA regions. These parameters and local fibrinolysis may be part of the processes leading to destruction of the aneurysm wall.

Multicenter assessment of sedation and delirium practices in the intensive care units in Poland - is this common practice in Eastern Europe?

BACKGROUND: The majority of critically ill patients experience distress during their stay in the Intensive Care Unit (ICU), resulting from systemic illness, multiple interventions and environmental factors. Providing humane care should address concomitant treatment of pain, agitation and delirium. The use of sedation and approaches to ICU delirium should be monitored according to structured guidelines. However, it is unknown to what extent these concepts are followed in Eastern European countries like Poland. The aim of this study was to evaluate sedation and delirium practices in ICUs in Poland, as a representative of the Eastern European block, particularly the implementation of sedation and ICU delirium screening tools, availability of written sedation guidelines, choice of sedation and delirium treatment agents. METHODS: A national postal survey was conducted in all Polish ICUs in early 2016. RESULTS: A total of 165 responses out of 436 addressed units were received (37.8%). Out of responding ICUs delirium is monitored in only 11.9% of the units in Poland. Sedation monitoring tool is used in only 46.1% of units. Only 19.4% of ICUs have written protocols for sedation and 32.1% do not practice daily sedation interruption. The most frequently used agents for short-term sedation (<24 h) were propofol and fentanyl infusions and benzodiazepines (midazolam) and morphine for longer sedation (>24 h). The preferred agents for delirium treatment were haloperidol (77.6%), dexmedetomidine (43.6%) and quetiapine (19.4%). Close to one-third (32.7%) of respondents chose a benzodiazepine (diazepam) for ICU delirium treatment. Non-pharmacological treatment for ICU delirium was reported by only 45% of the respondents. CONCLUSIONS: A majority of Polish ICUs do not adhere to international guidelines regarding sedation and delirium practices. There continues to be inadequate use of sedation and delirium monitoring tools. High usage of benzodiazepines for sedation and ICU delirium treatment reveals persistence of non-evidence-based practice. This study should prompt further assessment of other Eastern Europe countries and help generate a collective response to update these aspects of patient safety and comfort.

Is the Combination of COL1A1 Gene Polymorphisms a Marker of Injury Risk?

CONTEXT: The most commonly injured body part for skiing has been found to be the knee. The rupture of the anterior cruciate ligament (ACL) was the most frequent diagnosis. ACL ruptures are determined by several extrinsic and intrinsic risk factors including those that are hormonal, neuromuscular, anatomical, or genetic. OBJECTIVES: To examine the association of both COL1A1 rs1800012 (+1245G/T) and COL1A1 rs1107946 (-1997G/T) polymorphisms, individually and as haplotypes, with ACL ruptures in recreational Polish skiers. DESIGN: Genomic DNA was extracted from buccal cells donated by the subjects, and genotyping was carried out using real-time polymerase chain reaction. SETTINGS: University laboratory. PARTICIPANTS: 138 male recreational skiers with surgically diagnosed primary ruptures and 183 apparently healthy male recreational skiers not differing markedly in age or level of exposure to ACL injury. MAIN OUTCOME MEASURES: COL1A1 rs1800012 and COL1A1 rs1107946 polymorphisms. RESULTS: There were significant differences in genotype distribution of the COL1A1 rs1800012 polymorphism between the ACL rupture group and the control group. The GG homozygotes were underrepresented in the ACL rupture group compared with the control group. There were no significant differences in genotype distribution or allele frequency of COL1A1 rs1107946 polymorphisms between the ACL rupture group and the control group. The G-G (COL1A1 rs1800012G and COL1A1 rs1107946G) haplotype was the most common. There were no significant differences in haplotype distribution between the ACL-rupture and control groups. CONCLUSION: The study showed that GG homozygotes were underrepresented in the ACL-rupture group compared with the control group, which suggests an association with reduced risk of ACL injury.

Effect of Vitamin D Supplementation on Training Adaptation in Well-Trained Soccer Players.

Jastrzebska, M, Kaczmarczyk, M, and Jastrzebski, Z. Effect of vitamin D supplementation on training adaptation in well-trained soccer players. J Strength Cond Res 30(9): 2648-2655, 2016-There is growing body of evidence implying that vitamin D may be associated with athletic performance, however, studies examining the effects of vitamin D on athletic performance are inconsistent. Moreover, very little literature exists about the vitamin D and training efficiency or adaptation, especially in high-level, well-trained athletes. The purpose of the current study was to investigate the effect of vitamin D supplementation on training adaptation in well-trained football players. The subjects were divided into 2 groups: the placebo group (PG) and the experimental group (SG, supplemented with vitamin D, 5,000 IU per day). Both groups were subjected to High Intensity Interval Training Program. The selection to the groups was based on peak power results attained before the experiment and position on the field. Blood samples for vitamin D level were taken from the players. In addition, total work, 5, 10, 20, and 30 m running speed, squat jump, and countermovement jump height were determined. There were no significant differences between SG and PG groups for any power-related characteristics at baseline. All power-related variables, except the 30 m sprint running time, improved significantly in response to interval training. However, the mean change scores (the differences between posttraining and pretraining values) did not differ significantly between SG and PG groups. In conclusion, an 8-week vitamin D supplementation in highly trained football players was not beneficial in terms of response to High Intensity Interval Training. Given the current level of evidence, the recommendation to use vitamin D supplements in all athletes to improve performance or training gains would be premature. To avoid a seasonal decrease in 25(OH)D level or to obtain optimal vitamin D levels, the combination of higher dietary intake and vitamin D supplementation may be necessary.

PTPN22 1858C>T gene polymorphism in patients with SLE: association with serological and clinical results.

To assess the association between PTPN22 1858C>T gene polymorphism and susceptibility to, and clinical presentation of, systemic lupus erythematosus (SLE). Our study included 135 SLE patients (120 women and 15 men; mean age 45.1 years; mean course of disease from 0.5 to 31 years) and 201 healthy subjects. The PTPN22 1858C>T gene polymorphism was genotyped by polymerase chain reaction restriction fragment length polymorphism. A significantly higher incidence of genotype CT in patients with SLE (36.3 %) was found, compared with the control group (24.9 %). The frequencies of C1858 and T1858 alleles were 78.1 and 21.9 % in SLE patients and 86.1 and 13.9 % in controls, respectively. Significantly higher SLE susceptibility was observed in patients carrying at least one T allele (p = 0.009; OR 1.86; 95 % CI 0.14-3.05). Significant association of the PTPN22 T1858 allele (CT + TT vs.CC) and secondary antiphospholipid syndrome was observed (p = 0.049). In SLE patients carrying the T1858 allele, higher levels of antiphospholipid antibodies (anticardiolipin antibodies and/or lupus anticoagulant) were found (p = 0.030; OR 2.17; 95 % CI 1.07-4.44).

Electrophysiological, hemodynamic, and metabolic response to open procedure or endovascular repair of infrarenal aortic aneurysms.

BACKGROUND: The occurrence of cardiovascular diseases in the group of patients undergoing vascular surgery because of abdominal aorta aneurysm is very high. Endovascular procedures are regarded as hemodynamically safer for the patients. The aim of this study was to compare the changes in electrophysiological, hemodynamic, and metabolic parameters depending on the type of operation, using invasive hemodynamic monitoring and Holter electrocardiography recording. METHODS: A prospective, observational, nonrandomized study was conducted to compare dynamic changes of electrophysiological parameters (dominant rhythm, arrhythmia, corrected QT interval (QTc), invasive blood pressure, electrolytes, and acid-base balance in defined points during perioperative time in 2 groups: vascular prosthesis implantation group (91 patients) and stent-graft implantation group (83 patients). RESULTS: The study group comprised 174 consecutive adult Caucasian patients (mean age 64.4 ± 8.9 years in stent-graft group and 70.0 ± 7.5 years in vascular prosthesis implantation group). Although patients in the stent-graft implantation group were younger, they were diagnosed with lower limbs vascular atherosclerosis, type 2 diabetes mellitus, and a lower left ventricle ejection fraction more often than patients in the open procedure group. During the open procedure, higher blood pressure amplitudes (P = 0.00009), higher decrease in pH (P = 0.049), increase in the arterial lactate level (P = 0.00002), prolonged QTc values (P = 0.001), more frequent ventricular extrasystoles (P = 0.005), and cardiovascular deaths were observed, when compared with those observed during the endovascular aneurysm repair. CONCLUSIONS: When compared with the chosen techniques, the one for infrarenal abdominal aneurysm was found to be associated with significant differences in electrophysiological, hemodynamic, and metabolic parameters.

Association of the MTHFR 1298A>C (rs1801131) polymorphism with speed and strength sports in Russian and Polish athletes.

It has been suggested that DNA hypomethylation because of poorer effectiveness of the 5,10-methylenetetrahydrofolate reductase (MTHFR) enzyme induces muscular growth. We hypothesised that the common, functional 1298A>C polymorphism in the MTHFR gene is associated with athletic status. To test this hypothesis, we investigated the distribution of the 1298A>C variant in Polish (n = 302) and Russian (n = 842) athletes divided into four groups: endurance, strength-endurance, sprint-strength and strength-endurance, as well as in 1540 control participants. We found different genotypes (the AC heterozygote advantage) and allele distributions among sprint-strength athletes and strength athletes than the groups of sedentary controls for each nationality. In the combined study, the allelic frequencies for the 1298C variant were 35.6% in sprint-strength athletes (OR 1.18 [1.02-1.36], P = 0.024 vs. controls) and 38.6% in strength athletes (OR 1.34 [1.10-1.64], P = 0.003 vs. controls). The results of the initial and repetition studies as well as the combined analysis suggest that the functional 1298A>C polymorphism in the MTHFR gene is associated with athletic status. The presence of the C allele seems to be beneficial in sprint-strength and strength athletes. It needs to be established whether and to what extent this effect is mediated by alteration in DNA methylation status.

Analysis of the genetic variants of glucose-6-phosphate dehydrogenase in inhabitants of the 4th Nile cataract region in Sudan.

Malaria is one of the most common diseases in the African population. Genetic variance in glucose dehydrogenase 6-phosphate (G6PD) in humans determines the response to malaria exposure. In this study, we aimed to analyze the frequency of two single-nucleotide polymorphisms (G202A and A376G) present in two local tribes of Sudanese Arabs from the region of the 4th Nile cataract in Sudan, the Shagia and Manasir. The polymorphisms in G6PD were analyzed in 217 individuals (126 representatives of the Shagia tribe and 91 of the Manasir tribe). Real-time PCR and RFLP-PCR were utilized to analyze significant differences in the prevalence of alleles and genotypes. The 202A G6P allele frequency was 0.7%, whereas the G202 variant was found in 93.3% of cases. The AA, GA, and GG genotype frequencies for the A376G G6PD codon among the Shagia were 88, 11.1, and 0.9%, respectively; this is similar to the distribution among Manasir tribe representatives (94.5, 3.3, and 2.2%, respectively; OR 3.44 [0.85-16.17], p=0.6). Notably, in north-eastern Sudan the G6PD B (202G/376A) compound genotype frequency was 90.3%, whereas the G6PD A variant (202G/376G) was found in 1.4% of that population. Identification of the G6PD A- variant (202A/376G) in the isolated Shagia tribe provides important information regarding the tribal ancestry. Taken together, the data presented in this study suggest that the Shagia tribe was still nomadic between 4000 and 12,000 years ago. Moreover, the lack of G6PD A- genotype among ethnically diverse Monasir tribesmen indicates a separation of the Shagia from the other tribes in the region of the 4th Nile cataract in Sudan.

Association of BMPR1A polymorphism, but not BMP4, with kidney size in full-term newborns.

BACKGROUND: A correlation between renal mass and nephron number in newborns allows the use of total kidney volume at birth as a surrogate for congenital nephron number. As the bone morphogenetic protein type 4 (BMP4), and its receptor type 1A (BMPR1A, ALK3), play an important role in renal development, we hypothesized that common, functional polymorphisms in their genes might be responsible for variation in kidney size among healthy individuals. METHODS: We recruited 179 healthy full-term newborns born to healthy women. Kidney volume was measured sonographically. Total kidney volume (TKV) was calculated as the sum of left and right kidneys, and normalized for body surface area (TKV/BSA). Genomic DNA was extracted from umbilical cord blood leukocytes, and c.455T > C (rs17563) BMP4 and c.67 + 5659A > T (rs7922846) BMPR1A genotypes were identified by PCR-RFLP. RESULTS: TKV/BSA in newborns carrying at least one A BMPR1A allele (AA + AT) was significantly reduced by approximately 13 % as compared with TT homozygous newborns (106.7 ± 21.5 ml/m(2) vs. 122.7 ± 43.8 ml/m(2), p < 0.02). No significant differences in TKV/BSA were found among newborns with different BMP4 genotypes. CONCLUSIONS: Results suggest that rs7922846 BMPR1A polymorphism may account for subtle variation in kidney size at birth, reflecting congenital nephron endowment.

Association of 1936A > G in AKAP10 (A-kinase anchoring protein 10) and blood pressure in Polish full-term newborns.

OBJECTIVE: The 1936G AKAP10 allele is associated with increased adult basal heart rate (HR) and decreased variability, markers of low cholinergic/vagus sensitivity associated with hypertension. Blood pressure (BP) values in newborns are important measurable markers of cardiovascular risk later in life. The question was whether decreased vagal function-related 1936A > G AKAP10 is associated with newborn BP. STUDY DESIGN: 114 healthy Polish newborns born after 37th gestational week to healthy women with uncomplicated pregnancies. At birth, newborn cord blood obtained for isolation of genomic DNA. BP and HR measured on days 1 and 3 after delivery. RESULTS: Diastolic BP on day 3 and absolute and relative differences between diastolic BP values, as well as between mean BP values on day 3 and on day 1 after birth, in carriers of 1936G AKAP10 allele, were significantly higher as compared with wild-type homozygotes. CONCLUSION: Results demonstrate possible association between 1936G AKAP10 variant and BP in Polish newborns.

Polymorphism 1936A > G in the AKAP10 gene (encoding A-kinase-anchoring protein 10) is associated with higher cholesterol cord blood concentration in Polish full-term newsborns.

AIMS: A-Kinase anchoring proteins (AKAPs) coordinate the specificity of protein kinase A signaling by localizing the kinase to subcellular sites. The 1936G (V646) AKAP10 allele has been associated with adults with low cholinergic/vagus nerve sensitivity and with newborns with increased blood pressure. Decreased activity of the parasympathetic system is associated with risk of metabolic syndrome. The aim of this study was to answer the question of whether 1936A > G AKAP10 polymorphism is associated with metabolic changes in full-term newborns that are predictive factors for the metabolic phenotype in adulthood. METHODS: The study included 114 consecutive healthy Polish newborns born after the end of the 37 th week of gestation to healthy women with uncomplicated pregnancies. At birth, cord blood of neonates was obtained for isolation of genomic DNA and cholesterol as well as triglyceride concentration. RESULTS: The cholesterol level in homozygotes GG was significantly higher than that in 1936A variant carriers (AG + AA, recessive mode of inheritance). CONCLUSIONS: Our results demonstrate a possible association between the 1936G AKAP10 variant and the total cholesterol level in the cord blood of the Polish newborn population.