Showing 2 results for Variant.
Rezvan Asgari, Mitra Bakhtiari,
Volume 78, Issue 6 (9-2020)
Abstract
Infertility as a vital process in human reproduction involves many couples worldwide. Although many genetic causes of infertility are known, the genetic basis of infertility in men is largely unknown. Therefore, the identification of genetic biomarkers in this field is important and genetic polymorphisms in key genes of the spermatogenesis pathway can be valuable biomarkers in this field. Gene's polymorphisms with specific genetic background and/or environmental factors can lead to the dysfunction in testicular function or the process of sperm production. Matrix metalloproteinases (MMPs) are a family of zinc-dependent enzymes that play an important role in extracellular matrix remodeling by activating gelatinases, collagenases, and proteolytic enzymes. These enzymes are essential for the regulation of cellular connections in the testis. Extracellular matrix degradation and connective tissue remodeling are important structural changes in germ cell migration that are controlled through important genes, including MMPs and their biological inhibitors. Given the important role of MMPs in the structural and functional characteristics of reproductive organs, genetic polymorphisms in MMP genes are significant because they can influence gene transcription and the biological function of proteins. Studies have shown that matrix metalloproteinases are involved in the degradation of extracellular matrix and play an important role in the process of spermatogenesis and sperm quality. This review article aims to evaluate the role of two common, functional MMP2 G1575A and MMP9 C-1562T polymorphisms in male infertility. The findings indicate that polymorphisms of MMP2 G1575A and MMP9 C-1562T can affect gene transcription, protein level, and enzymatic activity, and also, these variants can be as one of the genetic causes in male infertility among different ethnic populations. Therefore, identifying these molecular changes can help to adopt appropriates therapeutic and diagnostic measures as well as guide therapeutic approaches to intelligent therapies. To achieve a definitive conclusion and confirm the association of these polymorphisms with male infertility, evaluations of gene-gene and gene-environment interactions can be important for larger sample sizes of different ethnicities.
Atoosa Gharib, Sahar Yazdanparast, Peyman Mohammadi Torbati ,
Volume 82, Issue 8 (11-2024)
Abstract
Background: It is necessary to determine the morphological type of invasive urothelial carcinoma and their invasive behavior to surrounding tissues. What we will discuss in the present study will be the examination of the types of urothelial carcinoma variants and its relationship with the invasion of the muscularis propria.
Methods: In this descriptive study, the study population included: all patients with ureteral carcinoma and other bladder malignancies with a history of hospitalization in Labafinezhad and Modares hospitals from April 2019 to March 2023. To collect data, after approval by the university ethics committee, files of patients with ureteral carcinoma and other bladder malignancies were extracted from the pathology department archives of Labafinezhad and Modares hospitals. Background information, clinical characteristics, laboratory and pathological data of the patients were collected and recorded by reviewing their archive files. Divergent differentiation and morphology of various variants of carcinomas included in the study were evaluated and the percentage of each was determined. Also, cases with muscularis propria invasion were identified and the frequencies of each type of invasion in different variants were determined.
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Results: A total of 1243 patients participated in this study. The mean and standard deviation of the age of the patients were 65.2 and 11.2 years, respectively. 152 people (12.3%) were women and 1091 people (87.7%) were men. Patients with PT1 stage constitute more than 50% of cases. PT4 stage patients account for only 2.7% of cases. The highest frequency is in low grade papillary urothelial carcinoma.
Conclusion: The present study showed that about 27% of patients had Muscularis Propria invasion. In the high grade invasive urothelial carcinoma variant compared to other variants, muscularis propria invasion has been observed in a higher proportion of patients, and in the low grade papillary urothelial carcinoma variant, the lowest proportion of muscularis propria invasion has been seen.
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