The Correlation of Mutations and Expressions of Genes within the PI3K/Akt/mTOR Pathway in Breast Cancer-A Preliminary Study.

There is an urgent need to seek new molecular biomarkers helpful in diagnosing and treating breast cancer. In this elaboration, we performed a molecular analysis of mutations and expression of genes within the PI3K/Akt/mTOR pathway in patients with ductal breast cancer of various malignancy levels. We recognized significant correlations between the expression levels of the studied genes. We also performed a bioinformatics analysis of the data available on the international database TCGA and compared them with our own research. Studies on mutations and expression of genes were conducted using High-Resolution Melt PCR (HRM-PCR), Allele-Specific-quantitative PCR (ASP-qPCR), Real-Time PCR molecular methods in a group of women with ductal breast cancer. Bioinformatics analysis was carried out using web source Ualcan and bc-GenExMiner. In the studied group of women, it was observed that the prevalence of mutations in the studied PIK3CA and AKT1 genes was 29.63%. It was stated that the average expression level of the PIK3CA, PIK3R1, PTEN genes in the group of breast cancer patients is lower in comparison to the control group, while the average expression level of the AKT1 and mTOR genes in the studied group was higher in comparison to the control group. It was also indicated that in the group of patients with mutations in the area of the PIK3CA and AKT1 genes, the PIK3CA gene expression level is statistically significantly lower than in the group without mutations. According to our knowledge, we demonstrate, for the first time, that there is a very strong positive correlation between the levels of AKT1 and mTOR gene expression in the case of patients with mutations and without mutations.

Plastic Bronchitis-A Serious Rare Complication Affecting Children Only after Fontan Procedure?

BACKGROUND: Plastic bronchitis (PB) may occur not only in children following palliative Fontan procedure but also in those without underlying heart disease. We aim to assess the clinical course, therapeutic measures, outcome, and follow-up of PB in children with congenital heart disease (CHD) and children without cardiac problems. METHODS: This retrospective case series assessed children with PB admitted to hospital between 2015 and 2019. Parents or guardians of patients were contacted by e-mail or telephone between September 2017 and June 2019 to enquiry about recurrence of PB and strategy of treatment. The diagnosis of PB was based on the expectoration (spontaneous or during bronchoscopy) of endobronchial plugs. RESULTS: This study delineated the clinical, histological, and laboratory features of plastic bronchitis in children following Fontan procedure (Group A) and in those without heart defects (Group B, non-CHD children). The main symptoms were cough accompanied by dyspnea, and hypoxemia with a decrease in oxygen saturation, often leading to acute respiratory failure. In children with CHD, the first episode of PB occurred at a relatively young age. Although chronic, i.e., lasting more than 3 weeks, inhaled therapy was implemented in both groups of patients, the recurrences of PB were observed. The mean time to PB recurrence after the first episode in Group A was longer than that in Group B (1.47 vs. 0.265 years, p = 0.2035). There was no re-episode with recurrence of PB in 3 cases out of 10 in total in Group A (30%) and 1 case out of 4 in total in Group B (25%). While the majority of children in Group A usually developed bronchial casts on the right side, the patients in Group B (without CHD) suffered from bronchial casts located only on the left side. CONCLUSIONS: Despite many similarities, clinical, histological, and laboratory studies in the children with plastic bronchitis after Fontan's surgery and in children without heart defects suggest that there are differences in the course of the disease in patients without CHD, such as a more advanced age of the first episode of PB, the location of plastic casts on the left side, and a stronger role of inflammatory factors and mechanisms. Further research is needed to understand the pathophysiology of PB and choose the most appropriate therapy.