Identification of candidate genes in a family with cancer overload by whole-exome sequencing

Background. Approximately 120 out of every 1 million children in the world develop cancer each year. In Turkey, 2500-3000 children are diagnosed with new cancer each year. The causes of childhood cancer have been studied for many years. It is known that many cancers in children, as in adults, cause uncontrolled cell growth, and develop as a result of mutations in genes that cause cancer. Methods. The investigation of family history within this context in the study, a total of 13 individuals consisting of all children and adults in the family were examined using the whole-exome sequencing (WES) with the individuals who were diagnosed with cancer in the family, who were detected to have different cancer profiles, and defined as high risk and to determine the gene or genes through which the disease has developed. Results. At the end of the study, a total of 30 variants with a pathogenic record in the family were identified. A total of 10 pathogenic variants belonging to 8 different genes from these variants have been associated with various cancer risks. Conclusions. A significant scientific contribution has been made to the mechanism of disease formation by studying a family with a high cancer burden and by finding the genes associated with the disease. In addition, by the results obtained, family members with cancer predisposition were selected after a risk analysis conducted in this family, and the necessary examinations and scans were recommended to provide an early diagnostic advantage. © 2022, Turkish National Pediatric Society. All rights reserved

ICAR: endoscopic skull‐base surgery

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Molecular Biomarkers in Ovarian Carcinoma

Ovarian cancer is the most lethal of the gynecological cancers because its etiology is not well understood and majority of ovarian cancers are detected at advanced stage, at which point it is typically incurable. Effective screening protocols and earlier disease detection and diagnosis could result in decreased morbidity for women with ovarian cancer. Cancer antigen 125 (CA-125) is the most frequently used diagnostic biomarker for ovarian cancer; however, it is not overexpressed in the early stage of the disease. Moreover, levels of CA-125 are also elevated in other instances, such as benign ovarian tumors and gynecological inflammation. Investigators are searching for new, specific, and sensitive biomarkers to replace or complement CA-125 in detection of ovarian cancer at an early stage. This review discusses current status and new biomarkers, algorithms for screening, and risk assessment for ovarian cancer

Determining the causal relationships among entrepreneurship, educational attainment and per capita GDP in high-income OECD countries

The entrepreneurship has been evaluated as playing a central role in explaining economic growth by many economists and policy makers. This role has recently been the subject of a growing literature. However, entrepreneurship literature generally has been focused on evaluating the effect of entrepreneurship on economic growth. This study will evaluate the causal relationships among women’s and men’s entrepreneurship, women’s and men’s educational attainment and per capita GDP in 20 high-income OECD countries over the period 2001-2011. To do this, applying the Granger panel non-causality test, the empirical findings of the study showed that there exists a unidirectional causal relationship running from women’s entrepreneurship to women’s educational attainment. Thus, the findings showed that the women entrepreneurship is a reason for increased women’s educational attainment. In addition, the findings showed that per capita GDP is important source for the total entrepreneurship activities as well as women’s and men’s educational attainment

A new insight into electrochemical microRNA detection: A molecular caliper, p19 protein

WOS: 000321085600027PubMed ID: 23680935microRNA (miRNA) has drawn a great attention in biomedical research due to its functions on biological processes. Detection of miRNAs is a big challenge since the amount present in real samples is very low and the length of them is short. In this study, for the first time an electrochemical biosensor for detection of mir21 using the oxidation signal of protein 19 (p19) as a molecular caliper was designed. The proposed method enables detection of mir21 in direct, rapid, sensitive, inexpensive and label-free way. Binding specificity of the p19 to 20-23 base pair length double stranded RNA (dsRNA) and direct/water-mediated intermolecular contacts between the fusion protein and miRNA allows detection of miRNA-antimiRNA hybrid structure. The detection of mir21 was achieved in picomole sensitivity through the changes of intrinsic p19 oxidation signals observed at +0.80 V with Differential Pulse Voltammetry (DPV) and the specifity of the designed sensor was proved by control studies. (C) 2013 Elsevier B.V. All rights reserved

A Web-Service for Automated Software Refactoring Using Artificial Bee Colony Optimization

Automated software refactoring is one of the hard combinatorial optimization problems of search-based software engineering domain. The idea is to enhance the quality of the existing software under the guidance of software quality metrics through applicable refactoring actions. In this study, we designed and implemented a web-service that uses discrete version of Artificial Bee Colony (ABC) optimization approach in order to enhance bytecode compiled Java programming language codes, automatically. The introduced service supports 20 different refactoring actions that realize intelligent ABC searches on design landscape defined by an adhoc quality model being an aggregation of 24 object-oriented software metrics

Wound healing properties of modified silver nanoparticles and their distribution in mouse organs after topical application

Citrate reduced colloidal silver nanoparticles (c-AgNPs) as synthesized and modified with oligonucleotides (Oligo-AgNPs) are comparatively evaluated for their wound healing properties on animal models. The healing progress was monitored daily during nine days by measuring the wound diameter. The tissue samples from the healed regions were analyzed for epithelial damage, congestion, inflammatory cell infiltration, fibroblast proliferation, and new collagen synthesis. The c-AgNPs and Oligo-AgNPs had statically significant impact on the healing process compared to control. The histological analysis revealed that the c-AgNPs and Oligo-AgNPs improved the congestion, inflammatory cell infiltration, fibroblast proliferation and new collagen synthesis as compared to control. Although the fibroblast proliferation seems to be the same for both c-AgNPs and Oligo-AgNPs, the collagen synthesis is markedly improved with the Oligo-AgNPs. The atomic spectroscopy analysis of the samples from different tissues showed that the AgNPs applied topically to the skin does not pass through the other organs. Our data suggest that topical application of Oligos-AgNPs improve wound healing by promoting increased collagen synthesis and tissue re-modeling without any side effects

Occupational injuries admitted to the Emergency Department

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Epigenetic and Genetic Alterations Affect the WWOX Gene in Head and Neck Squamous Cell Carcinoma

<div><p>Different types of genetic and epigenetic changes are associated with HNSCC. The molecular mechanisms of HNSCC carcinogenesis are still undergoing intensive investigation. WWOX gene expression is altered in many cancers and in a recent work reduced WWOX expression has been associated with miR-134 expression in HNSCC. In this study we investigated the WWOX messenger RNA expression levels in association with the promoter methylation of the WWOX gene and miR-134 expression levels in 80 HNSCC tumor and non-cancerous tissue samples. Our results show that WWOX expression is down-regulated especially in advanced-stage tumor samples or in tumors with SCC. This down-regulation was associated with methylation of the WWOX promoter region but not with miR-134 expression. There was an inverse correlation between the expression level and promoter methylation. We also analyzed whole exons and exon/intron boundries of the WWOX gene by direct sequencing. In our study group we observed 10 different alterations in the coding sequences and 18 different alterations in the non-coding sequences of the WWOX gene in HNSCC tumor samples. These results indicate that the WWOX gene can be functionally inactivated by promoter methylation, epigenetically or by mutations affecting the sequences coding for the enzymatic domain of the gene, functionally. We conclude that inactivation of WWOX gene contributes to the progression of HNSCC.</p></div