Role of Vascular Endothelial Growth Factor as a Potential Biomarker in Congenital Heart Defects: A Systematic Review.

Background: Several studies have investigated the role of vascular endothelial growth factor (VEGF) variants, serum levels, and correlations with other extrinsic factors in congenital heart defects (CHDs); however, the findings need confirmation. The present systematic review evaluates the association between CHDs and genetic polymorphisms and serum expressions. Methods: Relevant literature was searched through electronic databases using keywords and MeSH terms. VEGF activity was comparatively assessed between cyanotic and acyanotic CHDs, and the association between different polymorphisms and heart defects was evaluated. Results: We ultimately evaluated 12 studies regarding the association between VEGF serum patterns and found that serum VEGF levels were upregulated or downregulated in correlation with hypoxia and hemoglobin levels and were significantly associated with cyanotic CHDs compared with acyanotic CHDs. Our results also showed a significant role for different single-nucleotide polymorphisms, including rs699947, rs2010963, and rs3025039. Conclusion: The findings of the current study suggested a significant association between CHDs and VEGF genetic polymorphisms or varied serum levels. Nevertheless, more comprehensive studies may provide conclusive results and valuable insights into the pathogenesis of CHDs and relevant treatment strategies.

The role of NKX2-5 gene polymorphisms in congenital heart disease (CHD): a systematic review and meta-analysis.

BACKGROUND: The gene NKX2-5 is a key transcription factor that plays an essential role in normal cardiac development. Although some recent studies have studied the role of polymorphisms in the NKX2-5 gene in congenital heart diseases (CHDs), the results were not consistent and remained uncertain. Therefore, we conduct a review of literature and investigate the association of genetic polymorphisms with CHDs. RESULTS: We selected seventeen studies regarding the association of NKX2-5 gene rs2277923 polymorphism with CHDs. Overall, in all the tested genetic models, the 63A > G polymorphism was not significantly associated with increased congenital heart defects risk. We used pooled odds ratios (OR) to calculate the association of CHDs with rs2277923 including allelic model: OR 1.00, 95% CI 0.82-1.21; homozygote model: OR 0.95, 95%CI 0.68-1.33, recessive model: OR 0.89 CI 0.70-1.13, heterozygote model: OR: 1.09, 95%CI 0.87-1.37, dominant model: OR 1.08 CI 0.82-1.42 and overdominant model: OR 1.17 CI 1.01-1.35. In addition, our analysis suggests that no publication bias exists in this meta-analysis. CONCLUSIONS: Our findings suggested that 63A > G polymorphism in the NKX2-5 gene was not significantly associated with congenital heart defects. However, in the future, more studies with increased sample size are required that may provide us more definite conclusions.

A comprehensive review on gout: The epidemiological trends, pathophysiology, clinical presentation, diagnosis and treatment.

The current review was planned to assess updated knowledge about gout and to highlight the various areas which need to be focussed upon for better healthcare. Relevant articles published in English language were reviewed by utilising various databases including Google Scholar, Springer Link, Science Direct and MEDLINE. Data revealed a precipitating number of gout cases from the developed countries, while the developing countries on the other hand were found to be faced with an even higher threat. The risk factors and pathophysiology of gout are immaculate and clearly established. Hence, appropriate measures can be explored and worked on to pinpoint diagnosis, and economical treatment. In order to lessen the elevated global health burden along with revolutionising the patient's quality of life, an immediate action is required in certain aspects, like the adoption of a healthy modified lifestyle, a reduction in exposure to risk factors, robust prophylactic measures, bettering awareness, and an approach to early diagnosis followed by optimal treatment protocols.

The Role of Paraoxonase 1 (PON1) Gene Polymorphisms in Coronary Artery Disease: A Systematic Review and Meta-Analysis.

Although many studies have investigated the association of paraoxonase 1 (PON1) polymorphisms with coronary artery disease (CAD). However, the outcomes were not consistent and remain uncertain. Therefore, it is the need of the hour to analyze the available literature and evaluate the association of PON1 polymorphisms with the CAD. All the relevant studies published in the English language from January 1, 2000, up to September 20, 2020, were identified by searching through various electronic databases. The two researchers independently extracted the information. The data were analyzed by using the MetaGenyo program. The pooled odds ratio was used to find the associations between CAD and PON1 polymorphisms. In the final analysis, we include 10 studies regarding the association of PON1 polymorphisms (rs662 and rs854560) with CAD. Overall, the Q192R polymorphism increased the risk of CAD in the tested genetic models including the homozygote model: OR 1.35, CI 1.02-1.79; allelic model: OR 1.16, CI 1.00-1.33; dominant model: OR 1.25, CI 1.03-1.52. The L55M polymorphism does not significantly associated with CAD in all the tested genetic models including the homozygote model: OR 1.00 CI, 0.64-1.56; allelic model: OR 1.02, 95% CI 0.84-1.23; dominant model: OR 1.08, CI 0.89-1.31. Further analysis showed no publication bias exists in meta-analysis. Our findings suggested that rs662 in the coding region was significantly associated with the CAD however, rs854560 has no significant association with the disease. Nevertheless, in future, there is a need for more studies with a larger sample size which may provide a more definite conclusion.Study Registration: PROSPERO registration number CRD42020202278.

Determination of expression profile of p53 gene in different grades of breast cancer tissues by real time PCR.

BACKGROUND: Pakistan has a high incidence of breast cancer in Asia, where annually 16,232 deaths are reported. There are many exogenous and endogenous risk factors that affect the tumor suppressor genes and oncogenes. The p53 gene is a tumor suppressor gene and it has a role to protect the whole genome from external and internal stresses, which causes damages to the genome. OBJECTIVE: The aim of the current study was to investigate the p53 gene expression by using the real-time PCR technique in different grades of breast cancer as compared to the normal tissue. METHODS: Fresh Modified Radical Mastectomy (MRM) samples (grade1-grade3) were collected from different hospitals of the Lahore. The project was approved by an ethical review committee of Jinnah Hospital, Lahore. And before sampling an informed consent was obtained from patients and clinicians. RNA from fresh biopsies was extracted by Qiagen extraction kit and cDNA was formed. Real time PCR performed by using SYBR green master mix (ABI) and the data was evaluated by using Livak method. Statistical analysis was done by using Microsoft Excel. RESULTS: There was an abnormal gene expression of p53 in all grades of the breast tumors. Non-significant (p>0.05) difference of down and up regulation of p53 in different grades of breast tumor was found. However, as a whole up-regulation was more than down-regulation with significant difference (p<0.0011). CONCLUSION: The abnormal expression of p53 shows that there are some genetic and epigenetic factors which are the primal cause of an abnormal gene expression. It is recommended that perform next generation sequencing (NGS) of the gene to find out the mutations causing the abnormal behavior of p53 gene.