Repository of Research and Investigative Information Isfahan University of Medical Sciences
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Analysing glycolysis-related genes reveals the prognostic and diagnostic relevance of IER3 and AGRN in colorectal cancer
No full textBackgroundColorectal cancer (CRC) is a significant global health issue, with early detection being critical to improving patient survival. Dysregulation of the glycolysis pathway plays a pivotal role in CRC progression, but specific gene-level mechanisms remain underexplored.ObjectiveThis study aimed to investigate the role of glycolysis-related genes in CRC development and identify potential diagnostic and prognostic biomarkers.MethodsWe utilized The Cancer Genome Atlas (TCGA) dataset to perform differential expression analysis of glycolysis-related genes in CRC. Protein-protein interaction (PPI) network analysis was conducted to identify central hub genes. The diagnostic potential of selected genes was evaluated using ROC curve analysis, while their expression levels were validated through RT-qPCR.ResultsIER3 and AGRN were identified as significantly upregulated genes associated with reduced survival rates in CRC patients. PPI analysis revealed their roles as central hub genes within the glycolysis pathway. ROC curve analysis demonstrated their ability to distinguish CRC patients from healthy individuals. Validation through RT-qPCR confirmed their significant overexpression in CRC samples, highlighting their involvement in disease progression.ConclusionIER3 and AGRN are critical components of the glycolysis pathway, driving CRC development and progression while also showing potential as biomarkers for predicting outcomes, diagnosing CRC, and serving as treatment targets
Cardioprotective potential of protocatechuic acid against doxorubicin-induced cardiotoxicity in rats
No full textBackground and purpose:Chemotherapy with doxorubicin (DOX) is associated with toxicity in many organs including cardiac tissue. A large body of evidence has suggested that phenolic acids, such as protocatechuic acid (PCA), have beneficial effects on cardiovascular problems. This investigation was conducted to evaluate the ameliorative properties of PCA against DOX-induced cardiotoxicity in Wistar rats.Experimental approach:Animals were treated with PCA (50, 100, and 200 mg/kg, orally) for 10 days. On the 7th day, a single injection of DOX (20 mg/kg/day, i.p.) was administered to induce cardiotoxicity. Electrocardiography, biochemical analysis of cardiac markers, and histological inspections were performed.Findings/Results:Pretreatment with PCA, especially at the doses of 100 and 200 mg/kg for 7 days before the administration of DOX, significantly improved cardiac rhythm and pathological changes, reduced serum levels of creatine phosphokinase-MB, lactate dehydrogenase, aspartate aminotransferase, lipid peroxides and also prevented heart weight rise.Conclusions and implications:The in-vivo findings of the current study revealed that PCA exhibits protective effects against DOX-induced cardiotoxicity. These results suggest that PCA, a natural phenolic acid, may serve as a promising candidate for cardioprotective interventions in clinical trials involving chemotherapy with DOX
Evaluation of pathogenic variant in WFS1 in a patient with Wolfram syndrome
No full textObjective Wolfram syndrome (WS) is a genetically disorder that affect on many organs, and neurodegenerative disorder. Although various clinical dysfunctions may have different onset times, they can collectively contribute to delays in the diagnosis of the disorder. To date, more than 200 pathogenic and likely pathogenic variant have been identified. In the present investigation, we evaluated three families with WS and reported a mutation in the WFS1. Methods This study, we have evaluated mutation in the WFS gene in three consanguineous families including three patients with a history of young-onset DM, progressive hearing loss and optic atrophy further neurological abnormalities. Results Sequencing results showed a novel homozygous stop-gain variant, c.1444A > T (p.K482X), and two previously reported mutations (c.2006A > G and c.2105G > A) in exon 8 of WFS1 gene. The variant interpretation was done according to the genetic guidelines. Finally, p.K482X was determined as a novel pathogen variant. Also, analysis showed that variants in parents were heterozygous. Conclusions The present survey, revealed a novel nonsense mutation in the wolframin protein, creates a frameshift which causes a premature stop codon truncating the protein in amino acid 482 residues. This mutation occurs in transmembrane domain and causes elimination of 46 of wolframin protein
Susceptibility assessment and genetic analysis of cucumber genotypes to damping-off disease by Phytophthora melonis
No full textCucumbers (Cucumis sativus L.) are an essential vegetable crop in the globe, they confront severe problems due to Phytophthora blight, which is mostly caused by Phytophthora melonis and causes large economic losses, particularly in Iran. The aim of this study was to investigate the resistance mechanisms against this disease in different cucumber genotypes. In the current study, the resistance to damping-off in 38 different local and exotic commercial cucumber genotypes was evaluated during the seedling and maturity stages. The genotypes were divided into four classes, with the average percent of damping-off ranging from 7.92 (resistant) to 88.01 (highly susceptible). Genetic diversity was found by molecular analysis utilizing ISSR markers, with ISSR29 being the most informative primer that highlights the potential of ISSR markers in providing a basis for identifying new resistant cucumber varieties. Important antifungal genes (CsWRKY20, CsLecRK6.1, PR3, PR1-1a, and LOX1) were found to be elevated in resistant and moderately resistant genotypes, especially in root collars, according to gene expression analysis, indicating their role in initiating defense mechanisms. At the same time, the related marker genes modulating immunity not only against P. melonis, but also are basically resistant against other pathogenic fungi, nematodes, and abiotic stress. For instant, CsWRKY20- Sphaerotheca fusca (powdery mildew), salt, drought, and cold stress; CsLecRK6.1 and PR1-1a- S. fusca; PR-3 and LOX1 Meloidogyne incognita (root-knot nematode) and Alternaria brassicae (leaf spot). Moreover, enzyme activity assays showed that PAL and POX enzymes were linked to resistance, whereas PPO, SOD, and CAT did not show a significant correlation. The importance of certain genes and metabolic pathways, in particular POX and PAL, in enhancing cucumber resistance to P. melonis has highlighted the potential of the related defense-resistant genes and enzymes in breeding efforts, providing a basis for developing new resistant cucumber varieties
Osteopontin in Alzheimer's Disease: A Double-Edged Sword in Neurodegeneration and Neuroprotection-A Systematic Review
No full textBackground Osteopontin (OPN) has emerged as a pivotal molecule in Alzheimer's disease (AD), with studies indicating its potential to act as both a neuroprotective agent and a contributor to neurodegeneration. This systematic review aims to elucidate the roles of OPN in AD pathogenesis through inflammatory pathways. Methods We conducted a comprehensive analysis of current literature on OPN's involvement in AD, focusing on its signaling pathways, cellular interactions, and regulatory mechanisms. We searched PubMed, EMBASE, and Scopus databases by the keyword of Alzheimer's Disease and Osteopontin. Our date search was in 1990 until July 1, 2024 with no language limitation. Results In a review of 758 studies, a total of 15 reports met the eligibility criteria and were included. Among the findings, four studies provided evidence supporting the protective mechanism of OPN within the context of AD. Eleven studies explain the inflammatory role of OPN. OPN has been shown to play a role in synaptic pruning, microglial activation, and the inflammatory processes associated with AD. Additionally, OPN is implicated in facilitating cellular communication and serves as a chemotactic molecule. It is suggested that the protective effects of OPN are predominantly mediated by the c fragment of the protein and are most prominent in the early stages of AD progression. Conclusion OPN in AD has dual effects-protecting neurons and contributing to their degeneration. Future research should enhance its protective mechanisms, target specific signaling pathways, and develop therapies to slow AD progression
A Systematic Review of the Methodology of Developmental Anesthetic Neurotoxicity Research in Rodent Models
No full textLong noncoding RNAs and HPV-related cervical cancer: Uncovering molecular mechanisms and clinical applications
No full textCervical cancer (CC) is the primary cause of cancer-related mortality among women in developing countries and is the most prevalent disease linked to human papillomavirus (HPV). Over 70 of CC cases result from persistent infections with high-risk HPV types. The virus typically targets the mucocutaneous epithelium, generating viral particles in mature epithelial cells, which leads to disruptions in normal cell-cycle regulation and promotes uncontrolled cellular proliferation. This unchecked cell division results in the accumulation of genetic damage, contributing to the pathogenesis of CC. While HPV infection is a key etiological factor, the disease's progression also necessitates the involvement of genetic and epigenetic influences. One of the epigenetic regulators, long noncoding RNAs (lncRNAs), are characterized by transcripts exceeding 200 nucleotides. These molecules play crucial roles in various cellular processes, including transcription regulation, RNA metaboli35 per 100,000sm, and apoptosis. Investigating the specific roles of lncRNAs in modulating gene expression related to the oncogenic mechanisms of CC, particularly in the context of high-risk HPV infections, may provide valuable insights for diagnostic and therapeutic advancements. Herein, we first review key molecular mechanisms by which lncRNAs interfere with CC-related HPV development. Then, diagnostic, prognostic, and therapeutic potentials of these lncRNA molecules will be highlighted in depth. The focus of this article is on the role of lncRNAs associated with HPV-related CC, emphasizing the investigation of signaling pathways and their underlying molecular mechanisms. Furthermore, we explore the therapeutic potential and diagnostic relevance of the most significant lncRNAs in the context of CC, thereby highlighting their importance in advancing treatment strategies and improving patient outcomes
A novel ITGB2 variant in a patient with severe recurrent pyoderma gangrenosum-like lesions and underlying leukocyte adhesion deficiency type I: case report and literature review
No full textLeukocyte adhesion deficiency (LAD) is a group of inborn errors of immunity caused by mutations of integrin subunit b2 gene (ITGB2). Pyoderma gangrenosum (PG) is an uncommon neutrophilic dermatosis characterized by recurrent, sterile, and enlarging necrotic ulcers which may manifest as a single or multiple new lesions simultaneously. Here we report a 43-year-old woman from a consanguine marriage who was diagnosed with LAD-I in childhood, recurrent severe PG-like lesion, and atypical manifestations including celiac disease and low CD19 B-cell subsets. A targeted genetic panel revealed a novel homozygous missense variant c.988T>C (Tyr330His) in ITGB2 gene. While the treatment with prednisolone, cyclosporine, and antibiotics led to partial improvement, the patient unfortunately discontinued the therapy and later died from septicemia. Early hematopoietic cell transplantation (HCT) shortly after birth can be highly effective in managing patients with LAD and preventing life-threatening infections. However, evidence suggests that HCT does not prevent autoinflammatory and autoimmune disorders such as PG. Therefore, it is important to monitor LAD patients for the potential development of PG, even after HCT
The Impact of Malignancy on the Risk of Venous Thromboembolism in Pregnant Women: A Systematic Review
No full textBackground and AimsVenous thromboembolism (VTE) is a distinct malignancy complication that raises the risk of demise in cancer patients by up to thrice. However, pregnant females have a 4-5 times greater chance of getting VTE than nonpregnant women. The current systematic review aimed to elucidate the impact of malignancy on the risk of VTE in pregnant females.MethodsWe carried out a systematic search in multiple databases, including PubMed (Medline), Google Scholar, and Scopus, up to January 2023. Finally, 441 related articles were extracted from the databases. After screening the title, abstract, and full text, seven articles were included in the study.ResultsSeven studies (six cohorts and one cross-sectional) with 58,854,195 pregnant females (22,396 cancer patients) were included. These studies were done in the United States of America, Canada, Brazil, and Denmark. All of the studies except one study demonstrated that cancer in pregnant patients increased the risk of deep vein thrombosis (DVT). The risk of VTE prevalence in pregnant females with a record of malignancy was significantly higher than in free cancer groups, and the highest aOR was correlated to myeloid leukemia.ConclusionsEvidence in this systematic review showed that pregnant women with malignancy are more susceptible to VTE and other coagulation disorders. Physicians and health policymakers should be of high vigilance to pregnancy-associated VTE, especially in women who have cancer
Prevalence, risk factors, and impacts of sleep disturbances in patients with primary brain tumors: a systematic review
No full textSleep disturbances are common in patients with primary brain tumors (PBT), significantly affecting their health-related quality of life (QoL), emotional well-being, cognitive function, and clinical outcomes. These disturbances not only impact the patients themselves but also place a burden on their families and caregivers. Despite growing recognition of these problems, a comprehensive understanding of their prevalence, severity, and risk factors remains limited. This systematic review aimed to update the evidence on sleep disturbances in PBT patients, focusing on prevalence, risk factors, and management strategies. Following PRISMA 2020 guidelines, we searched PubMed, EMBASE, Scopus, PsycINFO, and CINAHL for studies published from September 2015 to June 2024. Eligible studies assessed sleep disturbances in adult PBT patients using validated methods. Studies with mixed-cancer samples, pediatric patients, or lacking validated sleep assessments were excluded. A total of 11 studies were included, revealing high rates of sleep disturbances, ranging from 9.2 to over 60, varying by tumor type and treatment stage. Key risk factors included older age, female gender, certain tumor types (e.g., pituitary), perioperative sleep quality, and psychological distress. Sleep disturbances were linked to worse clinical outcomes, including higher mortality and burden. Addressing sleep disturbances through routine assessment and targeted interventions is essential for improving outcomes in this population