Publications by authors named "Makrina Karaglani"

Article Synopsis
  • BRCA1 and BRCA2 are tumor suppressor genes critical for repairing DNA damage through the Homologous Recombination pathway, and mutations in these genes are linked to higher risks of breast and ovarian cancers.
  • Methylation of BRCA1/2 promoters can create a "BRCAness" phenotype, indicating HR deficiency in tumors, even when BRCA mutations are absent, and this methylation may serve as a valuable biomarker for predicting responsiveness to therapies like PARP inhibitors.
  • The review emphasizes the need for further research into BRCA1/2 methylation as a predictive tool in cancer treatment, suggesting it could significantly enhance prognosis and treatment strategies across various cancer types.
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The process of navigating through the landscape of biomedical literature and performing searches or combining them with bioinformatics analyses can be daunting, considering the exponential growth of scientific corpora and the plethora of tools designed to mine PubMed(®) and related repositories. Herein, we present BioTextQuest v2.0, a tool for biomedical literature mining.

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The role of the microbiome in cancer and its crosstalk with the tumor microenvironment (TME) has been extensively studied and characterized. An emerging field in the cancer microbiome research is the concept of the intratumoral microbiome, which refers to the microbiome residing within the tumor. This microbiome primarily originates from the local microbiome of the tumor-bearing tissue or from translocating microbiome from distant sites, such as the gut.

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  • * The study introduced a machine learning (AutoML) approach to analyze DNA methylation data, leading to the identification of SCZ-specific biomarkers such as IGF2BP1, CENPI, and PSME4 from blood samples of SCZ patients compared to healthy controls.
  • * An optimized five-feature biosignature was developed that included gene methylation levels and demographic factors, showing promise for being used in clinical diagnostics for SCZ, with a notable performance accuracy.
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  • Circulating cell-free DNA (ccfDNA) of mitochondrial origin (ccf-mtDNA) is a small part of the total ccfDNA in bodily fluids, with abnormal levels linked to various diseases.
  • A new standardized dual-qPCR assay effectively measures nuclear and mitochondrial ccfDNA, revealing that high ccf-mtDNA levels are significant in Breast Cancer and Type 2 Diabetes, but not in Osteoarthritis.
  • Machine learning was applied to create biosignatures for diagnosing and predicting outcomes in these diseases, highlighting their potential in improving clinical management.
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  • Circulating cell-free DNA (ccfDNA) shows promise as a biomarker for precision medicine diagnostics, leading researchers to explore its structure and biology.
  • Raman spectroscopy was used to analyze ccfDNA from various sources, revealing distinct chemical profiles related to health conditions like cancer and diabetes.
  • The study suggests that Raman spectroscopy could enhance liquid biopsy diagnostics, offering valuable insights into the biomolecular structure of ccfDNA in both healthy individuals and patients.
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  • The study explores how body composition affects chronic low back pain, aiming to enhance understanding and treatment methods.
  • One hundred and twenty-one participants with chronic low back pain underwent questionnaires, biomedical exams, and bioimpedance analysis to assess body composition.
  • Results indicated that pain affects limb structure, leading to decreased balance and stability, and a tendency for fat accumulation and muscle loss in the affected leg, highlighting the need for further research on this multifaceted condition.
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Background: The objective of our study was to compare a novel squared section, tapered design - with four conicity - short stem, the MINIMA® short stem with the cementless Profemur® TL standard femoral stem in primary total hip arthroplasty (THA) in terms of functional outcomes, radiologic evaluation and other peri-operative and post-operative data.

Material And Methods: This is a comparative study including 46 patients undergoing primary THA. In 23 patients, the MINIMA® short stem was used.

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Autotaxin (ATX), encoded by the ctonucleotide pyrophosphatase/phosphodiesterase 2 () gene, is a key enzyme in lysophosphatidic acid (LPA) synthesis. We have recently described methylation profiles in health and multiple malignancies and demonstrated correlation to its aberrant expression. Here we focus on breast cancer (BrCa), analyzing in silico publicly available BrCa methylome datasets, to identify differentially methylated CpGs (DMCs) and correlate them with expression.

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Tissue-specific gene methylation events are key to the pathogenesis of several diseases and can be utilized for diagnosis and monitoring. Here, we established an in silico pipeline to analyze high-throughput methylome datasets to identify specific methylation fingerprints in three pathological entities of major burden, i.e.

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Article Synopsis
  • Researchers are investigating circulating cell-free DNA (ccfDNA) as a potential non-invasive biomarker for the early diagnosis and monitoring of type 2 diabetes (T2DM).
  • In a study involving 96 T2DM patients and 71 healthy individuals, ccfDNA levels were quantified and analyzed, revealing significant differences in methylation patterns of certain β-cell-related genes between the two groups.
  • The findings suggest that ccfDNA could provide crucial clinical insights for T2DM management, with a predictive model showing strong performance in distinguishing between T2DM and healthy individuals.
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Diabetic foot osteomyelitis (DFO) is a severe, difficult to treat infection. Local antibiotic delivery has been studied as a potential therapeutic adjunct following surgery for DFO. This review aims to summarize the evidence on local antibiotic delivery systems in DFO.

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COVID-19 outbreak brings intense pressure on healthcare systems, with an urgent demand for effective diagnostic, prognostic and therapeutic procedures. Here, we employed Automated Machine Learning (AutoML) to analyze three publicly available high throughput COVID-19 datasets, including proteomic, metabolomic and transcriptomic measurements. Pathway analysis of the selected features was also performed.

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The corticotropin-releasing factor (CRF) system has been strongly associated with gastrointestinal pathophysiology, including colorectal cancer (CRC). We previously showed that altered expression of CRF receptors (CRFRs) in the colon critically affects CRC progression and aggressiveness through regulation of colonic inflammation. Here, we aimed to assess the potential of methylation levels as putative biomarkers in CRC.

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Article Synopsis
  • DNA methylation is crucial in breast cancer (BrCa) development and could help tailor personalized treatment.
  • A comprehensive analysis identified between 11,176 and 27,786 differentially methylated genes (DMGs), leading to the creation of three efficient gene signatures for diagnosis and prognosis.
  • These signatures were validated for their effectiveness, with high accuracy in distinguishing between healthy individuals, metastatic disease, and early-stage BrCa, providing valuable insights into improving precision management for breast cancer.
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  • The study analyzed the effectiveness of surgical treatments for diabetic foot osteomyelitis (DFO), comparing three groups: systemic antibiotics alone (group A), systemic plus local antibiotic-loaded beads (group B), and another type of local beads (group C).
  • All groups had high healing rates, with group B achieving 100% healing, but there was no significant difference in healing outcomes or other parameters among the groups.
  • Overall, the findings suggest that adding local antibiotic therapy does not enhance healing or reduce complications in DFO treatment.
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Alzheimer's disease (AD) is the most common form of neurodegenerative dementia and its timely diagnosis remains a major challenge in biomarker discovery. In the present study, we analyzed publicly available high-throughput low-sample -omics datasets from studies in AD blood, by the AutoML technology Just Add Data Bio (JADBIO), to construct accurate predictive models for use as diagnostic biosignatures. Considering data from AD patients and age-sex matched cognitively healthy individuals, we produced three best performing diagnostic biosignatures specific for the presence of AD: A.

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Background: Supercapsular Percutaneously Assisted total hip arthroplasty (SuperPATH approach) is a relatively new minimal invasive approach which has been associated with encouraging postoperative outcomes. The aim of this study is to compare the minimal invasive (MIS) SuperPATHapproach with the standard modified Hardinge approach at the base of muscle damage due to serum markers, functional results and other perioperative and postoperative data.

Material And Methods: Forty eight (48) consecutive patients undergone primary total hip arthroplasty (THA) by the same surgeon (GD), were enrolled in our study.

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Article Synopsis
  • Corticotropin Releasing Factor (CRF) neuropeptides influence stress responses through two receptors, CRF-R1 and CRF-R2, both found in human breast cancer tissues.
  • In research using the MCF-7 breast cancer cell line, CRF-R2α was identified as the main receptor, with estradiol affecting the expression of CRF-R1 and CRF-R2 differently.
  • Activation of CRF-R2 was linked to increased cell migration and enhanced effects of estrogen, suggesting that CRF-R signaling plays a role in the development of hormone-dependent breast cancer.
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Polymethylmethacrylate (PMMA) represents the current gold standard as an antibiotic delivery carrier in orthopaedic surgery. Despite the accepted use of local antibiotic carriers, there aren't any conclusive data comparing PMMA to Bone Graft Substitutes. The aim of this study was to compare the elution profile of gentamicin from various preparations of PMMA cements and Herafill beads.

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Blood circulating cell-free DNA (ccfDNA) is a suggested biosource of valuable clinical information for cancer, meeting the need for a minimally-invasive advancement in the route of precision medicine. In this paper, we evaluated the prognostic and predictive potential of ccfDNA parameters in early and advanced breast cancer. Groups consisted of 150 and 16 breast cancer patients under adjuvant and neoadjuvant therapy respectively, 34 patients with metastatic disease and 35 healthy volunteers.

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Circulating cell-free DNA (ccfDNA) is a biological entity of great interest due to its potential as liquid biopsy biomaterial carrying clinically valuable information. To better understand its nature, we studied ccfDNA in vitro in two human cancer cell lines MCF-7 and HeLa. Normalized indexes of ccfDNA per cell population decreased over time of culture but were significantly elevated after exposure to IC doses of the demethylating/apoptotic agent 5-azacytidine (5-AZA-CR).

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Purpose: The purpose of this study was the development of new quantitative methodologies for the general (total) COL11A1 gene and the C transcript (RT-qPCR methods for A and E transcripts have already been developed by our group previously), the quantification of all COL11A1 transcripts and the investigation for the first time of their potential association with histopathological prognostic factors in lung cancer.

Methods: Real-time RT-qPCR methodologies with dual hybridization probes were developed on the Light Cycler 1.5 platform (Roche,Germany).

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Sulfonylureas are insulin secretagogues which act in pancreatic β cells by blocking the K channels encoded by KCNJ11 and ABCC8 genes. In the present study, a pharmacoepigenetic approach was applied for the first time, investigating the correlation of KCNJ11 and ABCC8 gene promoter methylation with sulfonylureas-induced mild hypoglycemic events as well as the KCNJ11 E23K genotype. Sodium bisulfite-treated genomic DNA of 171 sulfonylureas treated T2DM patients previously genotyped for KCNJ11 E23K, including 88 that had experienced drug-associated hypoglycemia and 83 that had never experienced hypoglycemia, were analyzed for DNA methylation of KCNJ11 and ABCC8 gene promoters via quantitative Methylation-Specific PCR.

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Coronary artery disease (CAD) is a major global health burden whereby gene-by-environment-by-sex interactions play an important role. Coronary artery bypass graft (CABG) surgery involves patients with well-documented and severe CAD. Hence, the study of CAD in a context of the CABG surgery serves as an advantageous model for disease phenotype ascertainment and genetic association studies.

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