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A novel mutation of SGK-1 gene in central serous chorioretinopathy

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International Journal of Ophthalmology(English edition) 2015年第1期8卷 23-28页

作者： Mahmut Akyol Muhammet Kazιm Erol Ozdemir Ozdemir Deniz Turgut Coban Ahmet Burak Bilgin Esin Sogutlu Sari elif betul turkoglu Department of Medical Biology and Genetics Akdeniz University Faculty of Medicine Department of Ophthalmology Antalya Education and Research Hospital Department of Ophthalmology Zekai Tahir Burak Women's Health Education and Research Hospital Department of Ophthalmology Akdeniz University Faculty of Medicine Department of Ophthalmology Balιkesir University Faculty of Medicine

AIM: To investigate the association of serum glucocorticoid kinase gene-1(SGK-1) DNA variants with chronic central serous chorioretinopathy(CSC).METHODS: We enrolled 32 eyes of 32 patients who were diagnosed with chronic CSC and composed 32 normal eyes as a control group. Peripheral blood was used for DNA extraction and polymerase chain reaction amplification. SGK1 gene was sequenced by using Big Dye Terminator v3.1 cycle sequencing Kit(Applied Biosystems, Foster City, CA, USA). The SGK-1 gene and its variants were investigated in CSC patient group and control ***: We identified a new polymorphism M32 V in two person in the patient group [Minor allele frequency(MAF) =0.009] on the region of 1-60 amino acids. The rs1057293 was located in the encoder region of the SGK- 1 gene but not associated with CSC(P =0.68). An intrinsic rs1743966 is also not associated(P =0.28).CONCLUSION: The new polymorphism M32 V is located on the region of 1-60 amino acids which is necessary for localization to the mitochondria in CSC patient. This mutation is probably important for the energy metabolism and plays an important role in the cellular response to hyperosmotic stress and other stress stimuli. Both rs1057293 and rs1743966 are not associated with CSC.

关键词： central serous chorioretinopathy mutation polymerase chain reaction serum glucocorticoid kinase gene-1

Tumor budding as a potential prognostic marker in determining the behavior of primary liver cancers

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World Journal of Hepatology 2023年第6期15卷 775-785页

作者： betul Unal Mennan Yigitcan Celik elif Ocak Gedik Cumhur Ibrahim Bassorgun Gulsum Ozlem Elpek Department of Pathology Akdeniz University Medical SchoolAntalya 07070Turkey

Hepatocellular(HCC)and intrahepatic cholangiocarcinoma(ICC),the most common primary tumors of the liver,are among the most important causes of cancer deaths *** patients with primary liver tumors are frequently diagnosed at an advanced stage and have high mortality,many efforts have been made to identify new markers to determine their behavior and treatment,similar to those in other solid organ ***,morphological assessment of tumor budding(TB)has been revealed as a promising prognostic finding to predict tumor behavior and survival across several different tumor ***,the TB score in colorectal cancer has been revealed as an important parameter in pathology report protocols to determine the course of the *** the liver,despite enormous data showing that many mechanisms involved in TB are associated with tumor behavior in both HCC and ICC,studies focusing on the role of TB in predicting the behavior and prognosis of these tumors have started to be investigated very *** purpose of this review is to present data about TB in primary tumors of the liver,pointing out the potential role of this parameter in determining the course of the disease,and emphasize the need to increase the number of further studies focusing on the evaluation of this parameter with an overview of the mechanisms involved in TB.

关键词： Tumor budding Hepatocellular carcinoma Cholangiocarcinoma Prognosis Liver cancer Epithelial-mesenchymal transition

Artificial intelligence applications in predicting the behavior of gastrointestinal cancers in pathology

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Artificial Intelligence in Gastroenterology 2022年第5期3卷 142-162页

作者： Aysen Yavuz Anil Alpsoy elif Ocak Gedik Mennan Yigitcan Celik Cumhur Ibrahim Bassorgun betul Unal Gulsum Ozlem Elpek Department of Pathology Akdeniz University Medical SchoolAntalya 07070Turkey

Recent research has provided a wealth of data supporting the application of artificial intelligence(AI)-based applications in routine pathology ***,it is clear that these methods can significantly support an accurate and rapid diagnosis by eliminating errors,increasing reliability,and improving *** addition,the effectiveness of AI in the pathological evaluation of prognostic parameters associated with behavior,course,and treatment in many types of tumors has also been *** gastrointestinal system(GIS)cancers,the contribution of AI methods to pathological diagnosis has been investigated in many *** the other hand,studies focusing on AI applications in evaluating parameters to determine tumor behavior are relatively *** this purpose,the potential of AI models has been studied over a broad spectrum,from tumor subtyping to the identification of new digital *** capacity of AI to infer genetic alterations of cancer tissues from digital slides has been *** current data suggest the merit of AI-based approaches in assessing tumor behavior in GIS cancers,a wide range of challenges still need to be solved,from laboratory infrastructure to improving the robustness of algorithms,before incorporating AI applications into real-life GIS pathology *** review aims to present data from AI applications in evaluating pathological parameters related to the behavior of GIS cancer with an overview of the opportunities and challenges encountered in implementing AI in pathology.

关键词： Digital pathology Colorectal cancer Gastric cancer Machine learning Deep learning Prognosis

Prognostic significance of tumor budding,desmoplastic reaction,and lymphocytic infiltration in patients with gastric adenocarcinoma

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World Journal of Gastrointestinal Pathophysiology 2024年第1期15卷 9-25页

作者： Aysen Yavuz Kubra Simsek Anil Alpsoy Busra Altunay elif Ocak Gedik betul Unal Cumhur Ibrahim Bassorgun Ali Murat Tatli Gulsum Ozlem Elpek Department of Pathology Akdeniz University Medical SchoolAntalya 07070Türkiye Department of Medical Oncology Akdeniz University Medical SchoolAntalya 07070Türkiye

BACKGROUND Recent studies have shown that the tumor microenvironment significantly influences the behavior of solid *** this context,Accumulated data suggests that pathological evaluation of tumor budding(TB),desmoplastic reaction(DR),and tumor-infiltrating lymphocytes(TILs)may be crucial in determining tumor behavior in the gastrointestinal *** gastric adenocarcinoma(GAC),although some results suggest that TB and TILs may be effective in determining the course of the disease,the data do not ***,very few studies have investigated the relationship between DR and *** present,the associations between tumor TB,DR and TILs in GAC patients have not been *** To establish the relationships between TB,DR,and TILs in patients with GAC and to assess their influence on *** Our study group comprised 130 patients diagnosed with *** definition of TB was established based on the International TB Consensus *** DR was categorized into three groups according to the level of tumor stroma *** assessment of TILs was conducted using a semiquantitative approach,employing a cutoff value of 5%.The statistical analysis of the whole group and 100 patients with an intestinal subtype of GAC was performed using SPSS version *** A significant correlation between peritumoral budding(PTB)and intratumoral budding(ITB)was noted(r=0.943).Tumors with high PTBs and ITBs had a greater incidence of immature DRs and low TILs(P<0.01).PTB and ITB were associated with histological subtype,lymph node metastasis(LNM),and stage(P<0.01).ITB,PTB,LNM,DR,and stage were significant risk factors associated with poor *** multivariate Cox regression analysis identified ITB,PTB,and LNM as independent prognostic variables(P<0.05).In intestinal-type adenocarcinomas,a positive correlation between PTB and ITB was noted(r=0.972).While univariate analysis revealed that LNM,stage,PTB,ITB,and DR were strong parameters for pred

关键词： Gastric cancer Tumor budding Desmoplastic stroma Tumor-infiltrating lymphocytes Prognosis