Pathogenesis and genetics of neural tube defects

Abstract After congenital heart defects neural tube defects (NTDs) is the second most prevalent congenital malformation among birth defects. The average rate of isolated NTDs is 1.4-2.0 per 1000 live births worldwide. The etiology of isolated (nonsyndromic) NTDs is believed to be the result of a combination of genetic predisposition and environmental factors. Over 80 genes believed to be engaged in the neurulations have been identified during the investigation and research of the mouse models. Despite exhaustive research efforts, now spanning several decades, little is known about the actual genetic mechanisms governing the primary events involved in neural tube closure (NTC)

Prawdy i mity związane z powinowactwem pomiędzy asfaltem i kruszywem oznaczanym wg PN-EN 12697-11

Very important element, which shall be taken into account while designing asphalt mixes, is the physicochemical affinity of asphalt binder to aggregate. There are many test methods for its determination, but the results can be totally different. During the two years research program, there were determined the influence of different factors on the test results, and the possibility of fulfilling the requirements given in different countries.Bardzo ważnym elementem, który należy uwzględnić przy projektowaniu składu mieszanek mineralno-asfaltowych (mma) jest powinowactwo fizykochemiczne lepiszcza asfaltowego do kruszywa. Istnieje wiele metod badawczych do jego określania, jednak otrzymywane wówczas wyniki mogą być zupełnie odmienne. Podczas dwuletniego programu badawczego oceniono wpływ różnych czynników na wyniki badań oraz możliwość spełnienia wymagań postawionych w różnych krajach

Oligotrophic water in springs in Struga Dobieszkowska reserve

On the basis of the example of the nature reserve "Struga Dobieszkowska" (RSD), the occurrence of natural areas such as midforest springs and streams found in Lodz Hills Landscape Park (LHLP) are discussed. The springs in the area of LHLP create ecosystems characterized by significant phytoenosic, floral and faunal diversity. These springs have preserved the highest class of water purity (oligotrophic waters). The presence of the commonest for this class of water - saprobes e.g. the bryophytes genus Brachythecium, Gammarus pulex as well as typical groups of diatons has been observed. At present the areas adjacent to LHLP are subjected to significant anthropopressure which can result in the contamination of groundwater in this area.Na przykładzie rezerwatu przyrody ,,Struga Dobieszkowska” (RSD) omówiono występowanie na terenie Parku Krajobrazowego Wzniesień Łódzkich (PKWŁ) naturalnych obszarów przyrody, takich jak śródleśne źródliska i strumienie. Źródliska na terenie PKWŁ tworzą środowisko (ekosystemy) charakteryzujące się znaczną różnorodnością fitocenotyczną, florystyczną i faunistyczną. Źródliska te zachowały najczystszą klasę czystości (wody oligotroficzne). Zanotowano obecność najpospolitszych dla tej klasy wód saprobów: mszaki z rodzaju Brachythecium, kiełż zdrojowy (Gammarus pulex) oraz typowe zbiorowiska okrzemek. Obecnie tereny przyległe do PKWŁ poddawane są silnej antropopresji, której skutkiem może być zanieczyszczenie wód podziemnych w tym regionie

Glutathione S-Transferase P1 Genetic Variant’s Influence on the HbA1c Level in Type Two Diabetic Patients

GST (glutathione S-transferases) are capable of influencing glucose homeostasis, probably through regulation of the response to oxidant stress. The aim of our study was to investigate the relationship between GSTP1 gene polymorphism and glycated hemoglobin (HbA1c) levels in type two diabetic (T2D) patients. A total of 307 T2D patients were included. Analysis of the GSTP1 gene polymorphism (rs1695) was conducted using the TaqMan qPCR method endpoint genotyping. HbA1c was determined using a COBAS 6000 autoanalyzer. A univariable linear regression and multivariable linear regression model were used to investigate the association between mean HbA1c level and GSTP1 gene polymorphism, age at T2D diagnosis, T2D duration, therapy with insulin, gender, BMI, smoking status. GSTP1 Val/Val genotype, age at T2D diagnosis, T2D duration and therapy with insulin were statistically significant contributors to HbA1c levels (p p = 0.024). The results suggest that GSTP polymorphism may be one of the risk factors for higher HbA1c in T2D patients. Our study is limited by the relatively small sample size, cross-sectional design, and lack of inclusion of other oxidative stress-related genetic variants

NOS2 Polymorphism in Aspect of Left and Right-Sided Colorectal Cancer

Background: The NOS2 gene polymorphism rs2297518 is associated with an increased level of NO, which could contribute to colorectal cancer (CRC) development. We hypothesized that the potential influence of the NOS2 gene polymorphism on cancer development may vary between right-sided and left-sided colon cancers, and rectal cancers. The aim of this study was to determine the rs2297518 polymorphism influence on colorectal cancer development with regard to tumor localization. Methods: This case–control study included 199 patients with CRC and 120 controls. The qPCR endpoint genotyping was conducted using the TaqMan® genotyping assay. Results: This study revealed significant differences in tumor characteristic and in the minor alelle A frequency in the NOS2 genotype between colorectal cancers with different localizations. The mucinous adenocarcinoma was diagnosed significantly more often in right-sided cancers than in left-sided (30.6% vs. 10.9%, p = 0.009) and rectal cancers (30.6% vs. 7.1%, p = 0.0003). The minor allele A of the NOS2 genotype was observed more frequently in right-sided cancers than in left-sided cancers (44.9% vs. 23.1%, p = 0.0137) and more frequently in rectal cancers than in left-sided cancers (40.0% vs. 23.1%, p = 0.0285). Conclusions: In conclusion, the results support the hypothesis that the SNP rs2297518 of the NOS2 gene influences colorectal cancer development with regard to tumor localization