جستجوی مقالات مرتبط با کلیدواژه « genes » در نشریات گروه « پزشکی »

Liver hepatocellular carcinoma (LIHC) is a common cancer with a poor prognosis and high re-currence rate. We aimed to identify potential biomarkers for LIHC by investigating the involvement of hub genes, microRNAs (miRNAs), transcription factors (TFs), and protein kinases (PKs) in its occurrence.

we conducted a bioinformatics analysis using microarray datasets, the TCGA-LIHC dataset, and text mining to identify differentially expressed genes (DEGs) associated with LIHC. They then performed function-al enrichment analysis and gene-disease association analysis. The protein-protein interaction network of the genes was established, and hub genes were identified. The expression levels and survival analysis of these hub genes were evaluated, and their association with miRNAs, TFs, and PKs was assessed.

The analysis identified 122 common genes involved in LIHC pathogenesis. Ten hub genes were fil-tered out, including CDK1, CCNB1, CCNB2, CCNA2, ASPM, NCAPG, BIRC5, RRM2, KIF20A, andCENPF. The expression level of all hub genes was confirmed, and high expression levels of all hub genes were correlated with poor overall survival of LIHC patients.

Identifying potential biomarkers for LIHC can aid in the design of targeted treatments and im-prove the survival of LIHC patients. The findings of this study provide a basis for further research in the field of LIHC and contribute to the understanding of its molecular pathogenesis.

Congenital Heart Disease (CHD) is one of the leading causes of infant mortality with some problems in the heart's structure at birth. One of the most common congenital heart diseases is the septal defect, in which there is a hole in the wall (septum). Although the etiology of CHD is mainly unknown, numerous studies have suggested both genetic and environmental factors contribute to the development of this disease. This study aims to investigate the frequency of -964 A>G polymorphism (rs153109) in the IL27 gene in infants with CHD in Yazd province, Iran. The study included 30 infants with CHD. We genotyped the IL27 polymorphism by using the PCR- Sequencing technique. Data revealed that the frequencies of AA, AG, and GG among the population of Yazd province were 40%, 40%, and 20%, respectively. The frequency of A and G alleles were 60% and 40%, respectively. The higher frequency of the A allele in patients with CHD compared to the G allele suggests that the A allele may increase atrial septal defect and ventricular septal defect susceptibility in Yazd province. It is recommended that the presence of the A allele and AG genotype be used as a predictor for the development of septal defects.

Cardiovascular disease (CVD) is a leading cause of death worldwide, and it has been found to have a strong genetic component. In recent years, there has been much interest in the role of microRNAs (miRNAs) in CVD. miRNAs are small non-coding RNAs that regulate gene expression post-transcriptionally by binding to the 3' untranslated region (UTR) of target mRNAs. Many studies have shown that miRNAs play a crucial role in various physiological processes, including the regulation of cellular functions involved in the development of CVD. Several miRNAs have been identified that are involved in the pathogenesis of CVD, and some of them are associated with specific cardiovascular risk factors, such as hypertension or diabetes. It has been suggested that targeting specific miRNAs or combinations of miRNAs could serve as a novel therapeutic approach for CVD. Moreover, studies have also shown that certain genes are involved in CVD risk and progression leading to different clinical manifestations like coronary artery disease, heart failure, and valvular disease. Some of these genes are involved in lipid metabolism, inflammation, and cell proliferation and differentiation, and their expression is regulated by miRNAs. In conclusion, a complex interaction between genes and miRNAs contributes to CVD pathogenesis, and further research is required to fully understand the mechanisms involved. Nevertheless, the identification of specific miRNAs that are involved in CVD provides potential targets for future therapeutics.

Due to weak diagnosis and treatment of PDAC, detection of PDAC possible biomarkers in early stage is the main aim of this study.

Pancreatic ductal adenocarcinoma (PDAC) is known as an exocrine cancer with a 5-year overall survival of 11%.

Gene expression profiles of early stage of PDAC tissue and normal tissue are downloaded from gene expression omnibus (GEO) and evaluated via GEO2R. The significant differentially expressed genes (DEGs) are investigated via protein-protein interaction (PPI) network analysis and gene ontology.

 Among 104 DEGs, ALB, COL1A1, COL1A2, MMP1, POSTN, PLAU, and COL3A1 were pointed out as hub nodes. “Gelatin degradation by MMP1, 2, 3, 7, 8, 9, 12, 13” group of 52 biological terms were identified as the main affected terms.

In conclusion, ALB, MMP1, and COL1A1 genes were highlighted as possible biomarkers of early stage of PDAC. Dysfunction of extracellular matrix was identified as a main event in patients.

Precision medicine is a medical approach that involves customizing therapy for an individual by using extensive biological and external data. The rapid progress in the disciplines of molecular biology, gene sequencing, machine learning, and related technologies has facilitated the use of precision medicine. This approach utilizes the wealth of comprehensive information obtained from these advancements to improve the decision-making process in clinical treatment for individuals, particularly in real-time scenarios during the progression of a disease. Diabetes mellitus is a significant worldwide health issue, requiring the implementation of novel strategies to enhance patient outcomes. The efficacy of conventional treatment options that use a uniform approach has been shown to be limited in effectively addressing the heterogeneous character of the illness. In recent times, personalized medicine has surfaced as a revolutionary resolution, customizing treatment strategies in accordance with an individual's health attributes, lifestyle choices, and genetic composition. This review underscores the significance of genetic screening in forecasting susceptibility to diabetes and treatment response, while also emphasizing the potential of pharmacogenomics to optimize medication selection.

Hormones such as prolactin, by influencing expression of the endometrial genes, play a pivotalrole in embryo implantation and development. The present study aimed to evaluate serum level of prolactin andits effect on altering expression level of colony-stimulating factor-1 (CSF-1) and colony-stimulating factor-1 receptor(CSF-1R) genes in endometrial tissue during in vitro fertilization (IVF) pregnancy in the infertile womenand recurrent pregnancy loss (RPL), compared to fertile women, who lost their pregnancies at gestational age<20 weeks. In this case-control study, 40 infertile women, 40 IVF pregnant women with RPL and 40fertile women who lost their pregnancies at <20 weeks of gestation for unknown reasons were selected. Prolactinserum level was assessed using ELISA technique and expression of CSF-1 and CSF-1R genes was determined inendometrial tissue, using quantitative reverse transcription polymerase chain reaction (qRT-PCR). Mean prolactin level of the infertile group was 24.38 ± 1.43 ng/mL and it had statistically significantrelationship with the fertile group (P<0.001). Expression level of the CSF-1 and CSF-1R genes were higher in thefertile than infertile groups by 2.88 times (P<0.0001) and 2.64 times (P<0.0001), while it was respectively 2.28(P<0.0001) and 1.69 (P<0.0001) times higher compared to the RPL group. Risk factors for pregnancy loss, suchas aging, increased body mass index (BMI), smoking and diabetes caused decreasing changes in gene expression(CSF-1 and CSF-1R) and the differences were statistically significant, except in the infertile group. The present study showed a significant relationship of CSF-1 and CSF-1R expression levels with pregnancyloss. Risk factors such as aging, obesity, smoking and diabetes decreased both genes expression levels.

Cytokine storm is an aberrant response from the host immune system, and a main responsibility for the incidence of acute respiratory distress syndrome. The existence of the virus induced cytokine has been linked to mortality in patients with COVID-19. The study was aimed to review the genes that role in cytokine storm as therapeutic targets in patients with COVID-19.We demonstrated the role of pro-inflammatory cytokines in conditions that are often associated with COVID-19. Hyperproduction of mostly pro-inflammatory cytokines such as, IFN-γ, IL-6, IL-1, TNF-α, and Chemokines, which target lung tissue preferentially, can significantly worsen the prognosis in almost all cases.  Data about the cytokines in this disease will support the development of more useful COVID-19 patient management strategies. In the management of COVID-19 patients, targeting cytokines can decrease mortality and increase survival rates.

Leishmaniasis is currently considered a re-emerging or emerging infection based on the geographic region. The outcome of leishmaniasis vastly depends on Leishmaniahost interaction. This preliminary study aimed to show the association of human leukocyte antigen (HLA) class I and II genes with healed and non-healed cutaneous leishmaniasis (CL), and symptomatic and asymptomatic visceral leishmaniasis (VL) compared with control groups in Iran.

Ninety-five people, including 31 patients versus 64 individuals in the control group, were enrolled. Among them, 20 patients had confirmed CL based on amastigote observation, 10 had improved CL and 10 non-healed CL. Eleven patients were suffering from confirmed VL based on direct agglutination test (Five asymptomatic and six symptomatic VL cases). Besides, they were residents in an endemic area of VL in the northwest of Iran. To select a control group, it was ensured that they had no history of leishmaniasis. Peripheral blood samples were collected from each patient. After DNA extraction, HLA typing was conducted using polymerase chain reaction - sequence-specific priming (PCR-SSP). Subsequently, data were statistically analyzed by SPSS.

There was a statistical relationship between the presence of HLA-A26 and CL, healed CL and the existence of the B38 allele, C1 allele and symptomatic VL, as well as B1.4 allele and asymptomatic VL (P˂0.05).

This primary finding indicates that several HLA genes have a potential role in the susceptibility of Iranian people to CL and VL.

Many researchers have tried to identify bladder cancer biomarkers to reduce the need for cystoscopy. The aim of this study was to identify and measure appropriate transcripts in patient urine to develop a non-invasive screening test.

 From February 2020 to May 2022, 49 samples were obtained from Velayat Hospital, Qazvin University of Medical Sciences, Qazvin, Iran. Twenty-two samples were obtained from bladder cancer patients and 27 from bladder cancer-free subjects. RNA was extracted from participant samples, quantitative RT-PCR was performed, and TNP plots were used to assess IGF2 (NCBI Gene ID: 3481), KRT14 (NCBI Gene ID: 3861) and KRT20 (NCBI Gene ID: 54474) expression. For UCSC Xena analysis, Dataset ID: TCGA-BLCA was used to compare transitional cell carcinoma (TCC) and normal samples for survival rates.

IGF and KRT14 were more greatly expressed in patient urine samples than in those of the normal group. However, KRT20 expression did not significantly differ between the two groups. IGF2 had 45.45 and 88.89% sensitivity and specificity, respectively, for detecting TCC in urine samples while KRT14 had 59 and 88.89% sensitivity and specificity, respectively. Also, these results infer that overexpression of IGF would be prognosticators of poor TCC outcomes.

Our study showed that IGF2 and KRT14 are overexpressed in bladder cancer patient urine, and IGF2 could be a potential biomarker for poor prognoses in TCC.

This study aimed to assess MOB1A and B gene polymorphisms in patients with oral lichen planus (OLP. Several of premalignant lesions such as, leukoplakia, erythroplakia, oral lichen planus (OLP), and submucosal fibrosis can undergo malignant transformation and lead to oral cancer and non-invasive screening of patients to find those susceptible to SCC before progression to cancer would be highly beneficial.

This case-control study was conducted on 35 OLP patients and 35 healthy controls presenting to the Oral Medicine Department of Zahedan Dental School 2015 -2017. Unstimulated saliva samples were collected from both groups, and MOB1A and B gene polymorphisms were assessed by polymerase chain reaction (PCR). The two groups were compared by the Chi-square test (alpha=0.05).

Two groups had no significant difference in the frequency of T and G alleles for MOB1A gene polymorphisms. (P>0.05) and either two groups had no significant difference in the frequency of A and C alleles for MOB1B gene polymorphism's (P>0.05).

The present results showed no significant difference between the case and control groups regarding MOB1A and B gene polymorphisms; thus, MOB1A and B gene polymorphisms do not appear to play a role in the pathogenesis of OLP.

The most common cancer in women is breast cancer (BC) with an incidence of 24.2%. BC in younger patients will in general be more forceful, prompting more awful results and a requirement for more forceful treatment which may bring about a higher probability of long-haul treatment-related harmfulness and novel psychosocial issues. Furthermore, family inclination to BC as BRCA1 and BRCA2 mutations is more prevalent in this age group. There were a total of five ladies who had tumor pathology testing with negative results. All intrusive BC examples were regularly assessed for estrogen receptor, progesterone receptor, and human epidermal growth factor receptor-2 (HER2)/neu status utilizing immunohistochemistry. Cases with HER2/neu staining of 1+, 2+ or 3+ on immunohistochemistry examination were additionally assessed by fluorescent in situ hybridization for the enhancement of the HER2/neu quality. In this examination, we distinguished clinicopathological attributes of patients with BC. We partitioned into two gatherings, BRCA positive change and BRCA negative transformation. Roughly 5%-10% instances of BC have a positive family ancestry and about 20%-40% BC development were in acquired variations. Our study revealed that 20% of cases included individuals who had a family history of BRCA mutation. Male relatives with BC, earlier age at onset, a greater prevalence of reciprocal breast disease, and a connection to various malignancies in the ovary, colon, prostate, pancreas, and endometrial are only a few of the clear clinical characteristics of BRCA1/2-related BC.

In spite of many reports on persistent low CD4 T cell counts and change in immune-related gene expression level in patients with HIV infection, there is still uncertainty about significant association between gene expression level and HIV infection in patients with and without DIR. The aim of this study was to compare the expression level of CD4, CCL5, IFN-γ, STAT1, APOBEC3G, CD45, and ICAM-1 genes in HIV-1-positive patients with and without DIR.

In this study, 30 HIV-1-positive patients (15 patients with and 15 patients without DIR [control group]) were included. PBMCs of the patients were collected through density radient centrifugation with Ficoll-Hypaque. RNeasy Plus Mini kit was used to extract RNA. Relative expression levels of CD4, CCL5, IFN-γ, STAT1, APOBEC3G, CD45, and ICAM-1 genes were evaluated by real-time PCR.  The data were analyzed using one-way ANOVA.

CD4 T cell counts were significantly lower in DIR patients than the control group (p < 0.01). While there was no significant difference in the relative expression levels of CD4, CCL5, IFN-γ, STAT1, CD45, and ICAM-1 between patients with DIR and control group, APOBEC3G expression level was significantly higher in the patients with DIR as compare to the control group (p < 0.01).

Our findings suggest a significantly higher APOBEC3G expression level in patients with DIR, suggesting the potential role of APOBEC3G in patients with immunological discordance besides its suppressing role in HIV-1 infection. Confirmation of this hypothesis requires further research.

This study aims to evaluate the in vivo anticancer activity of arginine-reduced graphene (Gr-Arg) and ginsenoside Rh2-containing arginine-reduced graphene (Gr-Arg-Rh2). 

Thirty-two mice with breast cancer were divided into four groups and treated every three days for 32 days: Group 1, PBS, Group 2, Rh2, Group 3, Gr-Arg, and Group 4, Gr-Arg-Rh2. The tumor size and weight, gene expression (IL10, INF-γ, TGFβ, and FOXP3), and pathological properties of the tumor and normal tissues were assessed. 

Results showed a significant decrease in TGFβ expression for all drug treatment groups compared with the controls (P=0.04). There was no significant difference among the groups regarding IL10 and FOXP3 gene expression profiles (P>0.05). Gr-Arg-Rh2 significantly inhibited tumor growth (size and weight) compared with Rh2 and control groups. The highest survival rate and the highest percentage of tumor necrosis (87.5%) belonged to the Gr-Arg-Rh2 group. Lungs showed metastasis in the control group. No metastasis was observed in the Gr-Arg-Rh2 group. Gr-Arg-Rh2 showed partial degeneration of hepatocytes and acute cell infiltration in the portal spaces and around the central vein. The Gr-Arg group experienced a moderate infiltration of acute cells into the port spaces and around the central vein. The Rh2 group also showed a mild infiltration of acute and chronic cells in portal spaces. 

Based on the results, Gr-Arg-Rh2 can reduce tumor size, weight, and growth, TGF-β gene expression, and increase tumor necrosis and survival time in mice with cancer.

Nowadays, bacterial toxins are considering as powerful therapeutic strategies against the pathogenic organisms and other medical application. Shiga toxin is one of the most studied bacterial toxins found in Shigella dysenteriae and some Escherichia coli serogroups. In this study we screened the presence of Shiga toxin2 (Stx2) genes between the bacteria isolated from the stool and urine samples of the patients affected by diarrhea. Stool and urine samples were cultivated and microbial and biochemical tests were carried out. Well test was optimized for detection of killer phenotype of the bacteria. Colony-PCR and real-time PCR was performed for confirmation of presence of the Stx2 gene in the extracted genomic DNA of the isolated bacteria, and finally, SDS-PAGE was used for differential analysis of protein profile between killer and non-killer bacteria. We optimized in this study a rapid molecular method for screening of Shiga toxin 2 gene. Our presented condition for assay is referable and confident. Also, we purified, detected and analyzed functionally, Shiga toxin 2 peptide and recorded bacterial strains producing Stx2 toxin. In the future, real-time PCR assays can be developed for detection of Enterobacteriaceae virulence genes, including Stx and other its groups. The current study demonstrate that the real-time PCR technique is rapid and simple to use, and it is a promising method for identify Enterobacteriaceae toxins in human samples.

Epigenetic alterations such as DNA methylation are known as the main cause of different types of cancers through inactivation of tumor suppressor genes, especially thyroid cancer. Identification of novel and effective markers are important in diagnosis and prevention of thyroid cancer. In the present study, the expression and methylation of Solute carrier family 5 member 8 (SLC5A8) in Papillary Thyroid Carcinoma (PTC) in comparison to multinodular goiter (MNG) have been studied.

Overall, 41 patients with PTC and 36 patients affected by MNG were recruitedfrom four hospitals in Tehran and Qazvin, Iran in 2018. Thyroid tissues were obtained during thyroidectomy. RNA and DNA were extracted from thyroid tissues. Quantitative RT-PCR assay was performed for determining the mRNA level of SLC5A8while Methylation-Sensitive High-Resolution Methylation was applied for assessing the methylation status.

Methylation status of three regions composed of 52 CpG islands in the promoter of SLC5A8gene was studied by HRM assay. SLC5A8level in PTC tissues was significantly downregulated in average 0.4 fold in comparisonwith MNG tissues (P=0.05). The aberrant methylation of SLC5A8(b) region was remarkably different in PTC and MNG cases. The promoter methylation of SLC5A8(c) was significantly related to BRAFmutations and vascular invasion in PTC patients.

The aberrant promoter hyper methylation of SLC5A8 was related to aggressive PTC. Therefore, there is some evidence to support the hypothesis that SLC5A8could be a paly important role in the develop-ment of PTC.