22 research outputs found
Elucidation of role of graphene in catalytic designs for electroreduction of oxygen
Graphene is, in principle, a promising material for consideration as
component (support, active site) of electrocatalytic materials, particularly
with respect to reduction of oxygen, an electrode reaction of importance to
low-temperature fuel cell technology. Different concepts of utilization,
including nanostructuring, doping, admixing, preconditioning, modification or
functionalization of various graphene-based systems for catalytic
electroreduction of oxygen are elucidated, as well as important strategies to
enhance the systems' overall activity and stability are discussed
MixInYeast: A Multicenter Study on Mixed Yeast Infections
Invasive candidiasis remains one of the most prevalent systemic mycoses, and several studies have documented the presence of mixed yeast (MY) infections. Here, we describe the epidemiology, clinical, and microbiological characteristics of MY infections causing invasive candidiasis in a multicenter prospective study. Thirty-four centers from 14 countries participated. Samples were collected in each center between April to September 2018, and they were sent to a reference center to confirm identification by sequencing methods and to perform antifungal susceptibility testing, according to the European Committee on Antimicrobial Susceptibility Testing (EUCAST). A total of 6895 yeast cultures were identified and MY occurred in 150 cases (2.2%). Europe accounted for the highest number of centers, with an overall MY rate of 4.2% (118 out of 2840 yeast cultures). Of 122 MY cases, the most frequent combinations were Candida albicans/C. glabrata (42, 34.4%), C. albicans/C. parapsilosis (17, 14%), and C. glabrata/C. tropicalis (8, 6.5%). All Candida isolates were susceptible to amphotericin B, 6.4% were fluconazole-resistant, and two isolates (1.6%) were echinocandin-resistant. Accurate identification of the species involved in MY infections is essential to guide treatment decisions
Common, low-frequency, rare, and ultra-rare coding variants contribute to COVID-19 severity
The combined impact of common and rare exonic variants in COVID-19 host genetics is currently insufficiently understood. Here, common and rare variants from whole-exome sequencing data of about 4000 SARS-CoV-2-positive individuals were used to define an interpretable machine-learning model for predicting COVID-19 severity. First, variants were converted into separate sets of Boolean features, depending on the absence or the presence of variants in each gene. An ensemble of LASSO logistic regression models was used to identify the most informative Boolean features with respect to the genetic bases of severity. The Boolean features selected by these logistic models were combined into an Integrated PolyGenic Score that offers a synthetic and interpretable index for describing the contribution of host genetics in COVID-19 severity, as demonstrated through testing in several independent cohorts. Selected features belong to ultra-rare, rare, low-frequency, and common variants, including those in linkage disequilibrium with known GWAS loci. Noteworthily, around one quarter of the selected genes are sex-specific. Pathway analysis of the selected genes associated with COVID-19 severity reflected the multi-organ nature of the disease. The proposed model might provide useful information for developing diagnostics and therapeutics, while also being able to guide bedside disease management. © 2021, The Author(s)
Protective Effect of R Allele of PON1 Gene on the Coronary Artery Disease in the Presence of Specific Genetic Background
Background: Genetic susceptibility to CAD may be determined by polymorphic variants of genes encoding isoforms involved in the processes important in the pathogenesis of atherosclerosis, including lipids disorders. Participation of single polymorphic variants is relatively small, however its significance may increase in the presence of specific genetic or environmental background
The TT Genotype of the MTHFR 677C>T Polymorphism Increases Susceptibility to Premature Coronary Artery Disease in Interaction with Some of the Traditional Risk Factors
Background: The presence of several risk factors (genetic and non-genetic) has greater impact on the risk of premature coronary artery disease (CAD) than single risk factor. Objective: The aim of the study was to establish possible relations between genotypes and alleles of 677C>T polymorphism of MTHFR gene and some traditional risk factors e.g. elevated levels of lipid parameters and smoking in development of premature CAD. Methods: The groups comprised 152 patients with angiographically documented premature CAD (aged 42.9 ± 5.5) and 121 age-matched blood donors (aged 42.3 ± 6.5) were studied. The MTHFR 677C>T polymorphism was genotyped with Polymerase Chain Reaction-Restriction Fragment Length Polymorphism (PCR-RFLP) method. Results: Patients with TT genotype who simultaneously smoked had increased risk of premature CAD compared to non-smoking cases with CC genotype (OR = 24.62). We also found that individuals with TT genotype and elevated LDL-cholesterol (LDL-chol.) level had significantly higher risk of CAD (OR = 9.92) than individuals with normal LDL-chol. level and CC genotype. Conclusions: The present study shows that simultaneous presence of MTHFR TT genotype and smoking or elevated levels of LDL-chol. influences the risk of premature CAD. This findings give interesting contribution to gene-environment interaction problem that may have clinical implications in the future
Nosicielstwo allela A polimorfizmu –455G>A genu fibrynogenu beta zwiększa ryzyko choroby wieńcowej przy jednoczesnym podwyższonym stężeniu triglicerydów w surowicy
BACKGROUND Fibrinogen promotes development of atherosclerosis by directed integration in atherosclerotic lesions where it is converted into fi brin. The aim of the study was to assess a relationship between –455G>A polymorphism of beta fibrinogen (FGB) gene and coronary artery disease (CAD) in the Polish patients from Upper Silesia region and to establish whether there are any interactions between this polymorphism and traditional risk factors that influence the risk of CAD. METHODS We analyzed 191 patients with angiographically documented CAD and 203 blood donors. Genetic analysis was performed using PCR-RFLP method. RESULTS The frequency of FGB -455G>A genotypes was compatible with Hardy- Weinberg equilibrium. There was no significant differences in the distribution of A allele and A allele carriers of FGB polymorphism between cases and controls. We observed a tendency to higher level of plasma fibrinogen in subjects with AA or GA genotypes than in GG homozygotes. We also found strong synergistic effects between A allele carrier-state and increased level of triacylglycerols (TG) in determining the risk of CAD (SI=5.97, SIM=2.63). Carriers of A allele with elevated level of TG were 3-fold more frequent among cases than in control group (12.0% vs 3.9%, p=0.003,OR=3.34). CONCLUSIONS There is a synergistic effect between –455G>A polymorphism of FGB gene and elevated concentration of serum triacylglycerols which determine the risk of CAD.WSTĘP Fibrynogen promuje rozwój zmian miażdżycowych przez przyleganie do zmienionej ściany tętnic gdzie jest przekształcany w fibrynę. Celem niniejszej pracy była ocena związku między polimorfizmem –455G>A genu kodującego łańcuch beta fibrynogenu (FGB) a ryzykiem choroby wieńcowej (CAD, ang. coronary artery disease) w grupie pacjentów z Górnego Śląska i ustalenie czy istnieją interakcje między tym polimorfizmem a tradycyjnymi czynnikami ryzyka miażdżycy w determinowaniu ryzyka CAD. MATERIAŁ I METODY Grupę badaną stanowiło: 191 pacjentów z potwierdzoną koronarograficznie CAD oraz 203 krwiodawców bez obciążeń chorobami sercowo-naczyniowymi. Polimorfizm –455G>A genu FGB genotypowano metodą RFLP-PCR. Wyniki. Częstości genotypów polimorfizmu -455G>A genu FGB były zgodne z równowagą Hardy-Weinberg’a. Nie stwierdzono znamiennych różnic w częstości allela A i nosicieli allela A polimorfi zmu genu FGB między pacjentami a grupą kontrolną. Obserwowano tendencję do występowania wyższego poziomu fibrynogenu w osoczu osób z genotypami AA i GA w porównaniu do poziomu fibrynogenu w osoczu osób z genotypem GG. Stwierdzono również silny synergiczny efekt między nosicielstwem allela A a podwyższonym poziomem triglicerydów w determinowaniu ryzyka CAD (indeksy synergii SI=5.97, SIM=2.63). Nosiciele allela A charakteryzujący się podwyższonym poziomem triglicerydów występowali trzykrotnie częściej w grupie chorych niż w kontroli (12.0% vs 3.9%, p=0.003,OR=3.34). WNIOSKI Przedstawione wyniki wskazują na synergiczny związek nosicielstwa allela A polimorfizmu – 455G>A genu FGB z ponadnormatywnym stężeniem triglicerydów w surowicy krwi w kształtowaniu ryzyka CAD w populacji pacjentów z Górnego Śląska
Graphene-Based Nanostructures in Electrocatalytic Oxygen Reduction
Application of graphene-type materials in electrocatalysis is a topic of growing scientific and technological interest. A tremendous amount of research has been carried out in the field of oxygen electroreduction, particularly with respect to potential applications in the fuel cell research also with use of graphene-type catalytic components. This work addresses fundamental aspects and potential applications of graphene structures in the oxygen reduction electrocatalysis. Special attention will be paid to creation of catalytically active sites by using non-metallic heteroatoms as dopants, formation of hierarchical nanostructured electrocatalysts, their long-term stability, and application as supports for dispersed metals (activating interactions)
The rs2516839 Polymorphism of the USF1 Gene May Modulate Serum Triglyceride Levels in Response to Cigarette Smoking
Single nucleotide polymorphisms (SNPs) of the USF1 gene (upstream stimulatory factor 1) influence plasma lipid levels. This study aims to determine whether USF1 SNPs interact with traditional risk factors of atherosclerosis to increase coronary artery disease (CAD) risk. In the present study serum lipid levels and USF1 gene polymorphisms (rs2516839 and rs3737787) were determined in 470 subjects: 235 patients with premature CAD and 235 controls. A trend of increasing triglycerides (TG) levels in relation to the C allele dose of rs2516839 SNP was observed. The synergistic effect of cigarette smoking and C allele carrier state on CAD risk was also found (SIM = 2.69, p = 0.015). TG levels differentiated significantly particular genotypes in smokers (1.53 mmol/L for TT, 1.80 mmol/L for CT and 2.27 mmol/L for CC subjects). In contrast, these differences were not observed in the non-smokers subgroup (1.57 mmol/L for TT, 1.46 mmol/L for CT and 1.49 mmol/L for CC subjects). In conclusion, the rs2516839 polymorphism may modulate serum triglyceride levels in response to cigarette smoking. Carriers of the C allele seem to be particularly at risk of CAD, when exposed to cigarette smoking
CYP7A1 Gene Polymorphism Located in the 5′ Upstream Region Modifies the Risk of Coronary Artery Disease
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