GSTM1, GSTT1, and GSTP1 polymorphisms and colorectal cancer risk in Polish nonsmokers GSTM1, GSTT1, and GSTP1 polymorphisms and colorectal cancer risk in Polish nonsmokers

The etiology of autism spectrum disorder (ASD) has not yet been completely elucidated. Through time, multiple attempts have been made to uncover the causes of ASD. Different theories have been proposed, such as being caused by alterations in the gut–brain axis with an emphasis on gut dysbiosis, post-vaccine complications, and genetic or even autoimmune causes. In this review, we present data covering the main streams that focus on ASD etiology. Data collection occurred in many countries covering ethnically diverse subjects. Moreover, we aimed to show how the progress in genetic techniques influences the explanation of medical White Papers in the ASD area. There is no single evidence-based pathway that results in symptoms of ASD. Patient management has constantly only been symptomatic, and there is no ASD screening apart from symptom-based diagnosis and parent-mediated interventions. Multigene sequencing or epigenetic alterations hold promise in solving the disjointed molecular puzzle. Further research is needed, especially in the field of biogenetics and metabolomic aspects, because young children constitute the patient group most affected by ASD. In summary, to date, molecular research has confirmed multigene dysfunction as the causative factor of ASD, the multigene model with metabolomic influence would explain the heterogeneity in ASD, and it is proposed that ion channel dysfunction could play a core role in ASD pathogenesis.

Background: It is postulated that both individual genotype and environmental factors such as diet may modify the risk of developing colorectal cancer (CRC). The influences of GST gene polymorphism and red meat intake on CRC occurrence in the Polish population were analyzed in this study. Methods: Genotyping was performed with the qPCR method. Results: A high frequency of meat consumption was associated with an over 2-fold increase in the risk of colorectal cancer odds ratio (OR) adjusted for sex and age = 2.4, 95% confidence interval (CI); 1.3–4.4). However, after analyzing the genetic profiles, in the absence of polymorphisms of all three analyzed genes, there was no association between a high frequency of meat consumption and the occurrence of CRC. In the case of GSTM1 gene polymorphism, the high frequency of meat consumption increased the risk of CRC by almost more than 4 times (OR adjusted for sex and age = 3.8, 95% CI: 1.6–9.1). For GSTP1 gene polymorphism, a 3-fold increase in CRC risk was observed with a high frequency of meat consumption (OR adjusted for sex and age = 3.4, 95% CI: 1.4–8.1). In the case of GSTT1 gene polymorphism, the increase in risk of CRC was not statistically significant (OR adjusted for sex and age = 1.9, 95% CI: 0.4–8.5). Conclusions: The frequency of red meat intake in non-smokers increases the risk of colon cancer in the case of GST gene polymorphisms.

Background and Goals.In light of current knowledge, it seems that alternations underlying GISTs are well explained, although all that is enhanced by various aspects on a daily basis. More recently, attention has been pointed towards exosomes as important particles able to modify healthy and also diseased tissues including cancer. The goal of the present study was an analysis of CD9, CD63, and GLUT-1 as a marker of hypoxia status within 54 cases of GIST and evaluation of their predictive value.Methods.54 cases of patients suffering from GIST were enrolled into the study, predominantly in the gastric location. All operated cases had no Imatinib and other chemotherapies up to the day of operation. Expression of targeted proteins was performed by immunohistochemistry and, after that, the results with tabulated clinical data were compared by Kaplan-Meier method and multivariate Cox proportional hazard model of statistical analysis.Results.Our results presented a marked dependence of worsening clinical outcome with high expression CD63 (p=0.008) as well as with GLUT-1 (p=0.014). We noted a strict correlation of GLUT-1 expression with CD63 expression (p=0.03), which could confirm the thesis about the contribution of exosomes in intratumoural hypoxia status. The collected material did not confirm CD9 contribution.Conclusions.As presented here, CD63 and GLUT-1 have a prognostic value in GIST cases. The results confirm the other studies in this scope and can be used in future as an additional prognostic factor.

OBJECTIVE: To evaluate the utility of selected scales to prognosticate the severity and risk for death among patients with acute pancreatitis (AP) according to the revised Atlanta classification published in 2012.METHODS: Prospective data regarding patients hospitalized due to AP were analyzed. The final analysis included a total of 1014 patients. The bedside index for severity in acute pancreatitis (BISAP), Panc 3 scores and Ranson scales were calculated using data from the first 24 h of admission.RESULTS: Mild AP was diagnosed in 822 (81.1%) cases, moderate in 122 (12%) and severe in 70 (6.9%); 38 (3.7%) patients died. The main causes of AP were cholelithiasis (34%) and alcohol abuse (26.7%). Recurrence of AP was observed in 244 (24.1%) patients. In prognosticating the severity of AP, the most useful scale proved to be the Acute Physiology and Chronic Health Evaluation (APACHE) II (area under the curve [AUC] 0.724 [95% CI 0.655 to 0.793]), followed by BISAP (AUC 0.693 [95% CI 0.622 to 0.763]). In prognosticating a moderate versus mild course of AP, the CT severity index proved to be the most decisive (AUC 0.819 [95% CI 0.767 to 0.871]). Regarding prognosis for death, APACHE II had the highest predictive value (AUC 0.726 [95% CI 0.621 to 0.83]); however, a similar sensitivity was observed using the BISAP scale (AUC 0.707 [95% CI 0.618 to 0.797]).CONCLUSIONS: Scoring systems used in prognosticating the course of the disease vary with regard to sensitivity and specificity. The CT severity index scoring system showed the highest precision in prognosticating moderately severe AP (as per the revised Atlanta criteria, 2012); however, in prognosticating a severe course of disease and mortality, APACHE II proved to have the greatest predictive value.

Introduction: Liquid-based cytology allows to apply modern and specific analyses of hrHPV genotyping in p16/Ki-67 test. All of these together could raise accuracy ratio for high-grade squamous intraepithelial lesion above 90%. The purpose of this study was to evaluate the diagnostic accuracy of LBC, hrHPV testing, and p16/Ki-67 testing in diagnosis of high-grade cervical intraepithelial lesions. Material and methods: The study consisted of 176 women, out of which 50 presented with HSIL (CIN2) SCC (cervical intraepithelial lesion grade 2 squamous cell carcinoma). 126 women with a negative Pap test were pooled into the second group of the study. All patients were resampled for LBC, HPV genotyping, and for the p16/Ki-67 test. The research was carried out between May and December 2017, and second sampling were taken from 1 to 4 months. Results: We reported a strong correlation between positive Pap test and hrHPV (p < 0.05) that met accuracy close to 90%. We noted correlations between a positive p16/Ki-67 with a positive Pap test: p < 0.001; 66% sensitivity (95% CI: 51.2-78.8%), 87.8% specificity (95% CI: 75.2-95.4%), 76.8% accuracy (95% CI: 67.2-84.7%), and OR 13.9 (95% CI: 4.9-39.2), especially HSIL and HPV16: p < 0.001; sensitivity (95% CI) 64.0, specificity (95% CI) 98.4, accuracy (95% CI) 88.6, OR (95% CI) 109.3. Conclusions: The results of our study indicate hrHPV genotyping as a good biomarker for the triage of patients with an abnormal cytological report. In our opinion, the hrHPV test reaches the highest level of sensitivity, specificity, and accuracy, and should be considered as crucial diagnostic test in cervical screening.