فهرست مطالب فرخنده پوراسماعیلی

Breast cancer is the second most common cause of cancer-related death among females. The long non-coding RNAs (lncRNAs) are a significant population of non-coding RNAs with well-defined functions in both adjacent normal cells and tumorigenesis. Miss expression of them has been associated with the development of different kinds of cancers.

The aim of this study was to investigate the alterations in 3 lncRNAs and p53 in tissue samples of a group of women with luminal type A breast adenocarcinoma.

In this case-control study, the expression levels of p53 and three lncRNAs were evaluated in association with luminal A breast cancer in 80 ductal carcinoma tumors and adjacent normal breast tissues.Quantitative real-time PCR was used to measure the expression of the mentioned genes. The data were analyzed using t-tests.

The expression levels of IGFBP7-AS1, and RHPN1-AS1, showed a significant increase (P>0.05) while P53 and LINC00861 had a significant decrease in expression level in tumor tissues compared to adjacent normal tissues (P> 0.05). Receiver Operating Characteristic (ROC) curve indicated the diagnostic power of LINC00861 in differentiating tumor tissues from adjacent normal tissue with 90% sensitivity and 96% specificity, which can also interact with P53.Based on the area under the curve (AUC) value, expression of Linc00861, p53, RHPN1-AS1, and IGFBP-AS1 genes can help to differentiate patients from healthy individuals with diagnostic power of 0/855, 0/824, 0/778, and 0/659, respectively.

The key roles of the latest genes in the control of cancer-related pathways and the dysregulation of their expression in studied malignancies imply that they can be exploited as biomarkers for cancer diagnosis, prognosis, and possible therapeutic targets. Here, the roles of lncRNAs in invasive breast ductal carcinoma type luminal A and their importance in prognosis and patient treatment are discussed.

Backgrond: Infertility affects 15% of couples and male factor infertility is involved in 50% of cases. One of the causes of infertility is Azoospermia that refers to the absence of sperm per ejaculation and almost affects 1% of the total men population. A comprehensive overview about the disease and its risk factors along with a better understanding of the diagnosis was performed and comprehensive information about the modern treatment methods for this reproductive disorder was provided.
For writing this article, a large study on azoospermia, the reasons and treatment methods was performed by searching the words including azoospermia, genetics, treatment and diagnosis in the medical valid databases, mainly PubMed, up to 2016. Among the collected papers, articles that are most relevant to the goals of the present article was selected. The articles with brief explanation about the etiology of azoospermia and disease treatment options were studied further.
Findings: Literature review showed that genetic diseases such as Klinefelter syndrome, cystic fibrosis, primary and secondary testicular failure due to hormonal and/or chromosomal anomalies ranging from structural or numerical changes, gene mutations, genomics alterations at the level of telomeres and the resulting apoptosis, genetic polymorphisms, anatomical disorders associated with vas deferens and ejaculation, age, treatments of testicular cancer and other diseases, varicocele and surgical treatment of testis were considered as the most important factors in azoospermia.
Although numerous factors are involved in the etiology of azoospermia, clinical tests and genetic counseling plays an important role in early detection of disease that helps to retrieve sperm production and fertility to the patient in many cases.
Accurate understanding of the etiology of azoospermia could provide a suitable treatment approach for the management of disease.

The two major threat classes of chemical weapons are mustard gas and the nerve agents. Mustard was used in World War I، and there is an extensive human database on it. The fact that mustard gas is a carcinogen and readily produces a variety of chronic or persistent effects was not fully appreciated until after the war and following extensive human occupational exposure prior to World War II. Many of the toxicologic studies and human toxicity estimates for both mustard agents were generated for the purpose of developing chemical agents that would quickly produce maximal casualties in the least sensitive male soldier. We must also consider the effects of chemical agents on civilian populations and the effects of prolonged exposures to relatively low doses. These materials have always been extremely potent and efficacious. Their toxicity has not changed، but our perception of it has. Mustard gas is one of alkylating agents which has been used against soldiers in wars. This hazardous agent has uncopensable effects on humanbeing and other organisms. Mutagenicity، carcinogenicity and teratogenic effects of this toxic gas has been investigated by many scientists، but still there remained unknown facts about mutagenic effects of sulfur mustard and its metabolites to be solved. In this study، to find an easy، quick and efficient test to indicate mutagenicity of sulfur mustard and its metabolites، 20 urine samples were collected from injoured patients who were exposed to mustard gas in Sardasht area. Samples were assayed for the presence of mutagens by Ames and Fluctuation tests using bacteria strains salmonella typhymurium TA98، TA100 and TA102. This study showed that salmonella typhymurium TA102 is the best strain to be used for detection of mutagens in urine samples of patients exposed tro mustard gas. It was clearly shown that fluctuation test was much more sensitive test than Ames test in detecting low doses of mutagen.

PERF15 is a testicular germ-cell specific fatty-acid binding protein (FABP) isolated from mammals, originally from rats. It encodes one of the most abundant proteins of rat spermatozoa localized in the perinuclear theca. Northern blot analysis has demonstrated that rat PERF15 mRNA is exclusively transcribed during meiosis and post-meiosis. In this study, we cloned and sequenced human PERF15 gene. According to the open reading frame of automated computational analysis of Homo sapiens similar to testis fatty acid binding protein nine, two specific Primers were designed to amplify human PERF15 gene. To confirm the identity of the amplified gene, PCR products of PERF15 were cloned into appropriate plasmid vectors followed by sequencing of the inserts. A unique band of ~3kb was obtained after PCR amplification. Restriction enzyme digestion using PvuII confirmed that the fragment was related to PERF15. Gene alignment, direct sequencing and application of specific primers to the gene showed 100% similarity between this gene and the computational data by gel extraction of the ~3 kb band. The human PERF15 gene contained four exons and three introns. Exons one, two, three and four, respectively, coded for 24, 57, 34 and 17 amino acids. The existing three introns were composed of 2113, 461, and 168 nucleotides. In spite of the homology between exonic regions and exon-intron boundaries of human PERF15 gene and that of animals, human PERF15 gene is different in size and sequence from corresponding introns in rat and murine PERF15.

Premature ovarian failure (POF) or premature menopause is one of the stressful problems in women younger than 40, which may cause numerous early or late psychological and physical complications. Failure of germ cell development is associated with complete ovarian failure, while their decreased number is more likely associated with partial ovarian failure, which leads to secondary amenorrhea. Literature review shows almost no study has been done on chromosomal factors involved in POF in Iran. The purpose of this study was to study chromo-somal abnormalities in women with premature ovarian failure referred to the Fertility Health Research Center at Taleghani Hospital. Thirty-four patients experiencing menopause before the age of 40 and resultant infertility, attended the gynecology and obstetrics ward of Taleghani Hospital of Shahid Beheshti University of Medical Sciences, from the spring of 2005 to the summer of 2006, and underwent physical exam, sonography and hormonal tests (FSH, LH and PRL). The FSH level of the cases was ≥40 IU/lit. Then, the patients were referred to a genetic counselor for undergoing cytogenetic tests and counseling. Most of the cases (81.8%) were younger than 40 years of age and 18.2% were 40 or older. Definite abnormal X chromosomes − mosaic karyotypes 45, X/46, XX or 47, XXY (Klinefelter’s syndrome) and mosaic 46, XX or 47, XXX − were diagnosed in 17.6% of the patients (6 cases) with a mean age of 32.1±7.6. Although, there were no significant correlations between POF and chromosomal abnormalities, the results from the chromosomal analysis in this study and in a limited number of cases who had been affected by early menopause due to premature ovarian failure, it is suggested that chromosomal studies be considered as one of the first steps to understand the reasons for amenorrhea. The information obtained from cytogenic tests such as chromosomal analysis could be useful for patient management, genetic counseling, and future family planning.