scholarly journals The Assessment of 5 Polymorphisms in the USP9Y Gene in Infertile Patients with Non-obstructive Azoospermia

2021 ◽  
Vol In Press (In Press) ◽  
Author(s):  
Naser Kalhor ◽  
Hoda Fazaeli ◽  
Azar Sheykholeslami ◽  
Faezeh Davoodi Asl

Background: Male factor infertility that is the cause of about half of the infertility cases, may occur due to azoospermia. Because spermatogenesis defects may lead to non-obstructive azoospermia (NOA), investigating the factors involved in spermatogenesis, including hormones and genes, is one of the most important aspects in understanding the mechanism of NOA in men. Objectives: Male infertility is a complex disorder that affects a large proportion of men, yet many of its causes are unknown. Clarifying its genetic basis may help to identify the causes of infertility and provide effective treatment for patients. Methods: In this case-control study, single nucleotide polymorphisms (SNPs) located in the USP9Y gene were investigated. Accordingly, 100 healthy men and 100 NOA patients were regarded as control and case groups, respectively. Testis tissue samples were taken during the testicular sperm extraction (TESE) procedure, DNA extraction was done, and ARMS PCR was designed and performed. The rs3212292, rs2032597, rs2032604, rs2032598, and rs717268 polymorphisms in the USP9Y gene were analyzed by Tetra-ARMS PCR. Furthermore, the serum levels of sex hormones were assessed by the ELISA technique. Finally, the obtained data were analyzed by SPSS software. Results: According to the obtained results, there was no significant difference in case of genotype frequency of investigated SNPs between the case and control groups (P ≥ 0.05). The mean FSH and LH levels in the control group were relatively lower than the case group (P ≤ 0.05), whereas no significant difference in the mean testosterone level was observed between the two groups (P ≥ 0.05). Conclusions: Polymorphisms of the assessed SNPs showed no effect on the frequency of azoospermia; thus, polymorphisms did not increase the risk of NOA and also did not have a protective effect against the disease. Also, the results showed that the serum levels of FSH and LH increased in NOA patients.

2020 ◽  
Vol 11 (1) ◽  
pp. 22
Author(s):  
Miriam Cerván-Martín ◽  
Lara Bossini-Castillo ◽  
Rocío Rivera-Egea ◽  
Nicolás Garrido ◽  
Saturnino Luján ◽  
...  

Infertility is a growing concern in developed societies. Two extreme phenotypes of male infertility are non-obstructive azoospermia (NOA) and severe oligospermia (SO), which are characterized by severe spermatogenic failure (SpF). We designed a genetic association study comprising 725 Iberian infertile men as a consequence of SpF and 1058 unaffected controls to evaluate whether five single-nucleotide polymorphisms (SNPs), previously associated with reduced fertility in Hutterites, are also involved in the genetic susceptibility to idiopathic SpF and specific clinical entities. A significant difference in the allele frequencies of USP8-rs7174015 was observed under the recessive model between the NOA group and both the control group (p = 0.0226, OR = 1.33) and the SO group (p = 0.0048, OR = 1.78). Other genetic associations for EPSTI1-rs12870438 and PSAT1-rs7867029 with SO and between TUSC1-rs10966811 and testicular sperm extraction (TESE) success in the context of NOA were observed. In silico analysis of functional annotations demonstrated cis-eQTL effects of such SNPs likely due to the modification of binding motif sites for relevant transcription factors of the spermatogenic process. The findings reported here shed light on the molecular mechanisms leading to severe phenotypes of idiopathic male infertility, and may help to better understand the contribution of the common genetic variation to the development of these conditions.


Author(s):  
Masoomeh Shirzaiy ◽  
Zohreh Dalirsani

Abstract Objectives During pregnancy, systemic physiological alterations lead to some changes in the oral cavity, which could prepare the mouth environment for oral and dental problems. This study was aimed to investigate salivary α-amylase, sialic acid levels, and pH levels in pregnant and nonpregnant females. Materials and Methods In this analytical, case–control study, unstimulated saliva samples were collected with spiting method from 35 pregnant women (case group) and 35 nonpregnant women (control group) and transferred to the laboratory to assess salivary α-amylase, sialic acid, and pH levels. Data were analyzed by SPSS (version: 19) software through statistical methods of independent t-test and analysis of variance. Results The mean sialic acid levels were 2.285 ± 1.230 mg/dL in pregnant and 2.744 ± 1.326 in nonpregnant women without any significant difference (p = 0.138). The mean salivary α-amylase concentrations were 2.461 ± 1.869 U/L and 2.439 ± 2.058 U/L, respectively, in pregnant and nonpregnant women, with no significant difference (p = 0.963).The mean salivary pH in nonpregnant women was significantly more than that in pregnant women (7.845 ± 0.430 and 6.868 ± 0.413, respectively) (p < 0.001). Also, the mean salivary pH levels in pregnant women were 7.474 ± 0.420 in the first trimester, 6.868 ± 0.413 in the second trimester, and 6.568 ± 0.387 in the third trimester, which were significantly different (p < 0.001). Conclusion Salivary sialic acid and α-amylase levels among pregnant women were no different from those of other subjects. During pregnancy, the salivary pH significantly reduced, and the mean salivary pH during pregnancy had a decreasing trend from the first trimester to the third trimester.


2020 ◽  
Vol 18 (3) ◽  
Author(s):  
Mansour Karajibani ◽  
Farzaneh Montazerifar ◽  
Faezeh Kazemi ◽  
Ali Reza Dashipour

Background: Caused by an imbalance in the body’s oxidant and antioxidant status, oxidative stress can give rise to tissue damage and exacerbation of many diseases. Objectives: This study investigated the oxidative stress markers in patients with fractures and healthy subjects. Methods: In a cross-sectional case-control study, 40 patients with fractures admitted to an orthopedic ward and 40 healthy, non-fractured patients were selected using convenience sampling. Serum was analyzed for oxidant and antioxidant activities based on standard methods. P < 0.05 was considered statistically significant. Results: There was a significant difference in mean TAC between the case (748.2 ± 302.83 μmol/L) and control (984.90 ± 207.02 μmol/L) groups (P = 0.003). The mean MDA was 16.61 ± 4.16 µmol/L in the case group and 18.45 ± 5.43 µmol/L in the control group (P = 0.09). The mean SOD was 63.41 ± 16.67 U/g Hb in the case group and 58.54 ± 21.83 U/g Hb in the control group (P = 0.2). There was no significant difference between the two groups in terms of BMI and other variables. Conclusions: A significant difference existed in TAC between the two groups, which indicated increased oxidative stress in patients. However, oxidative stress could occur before and after undergoing fractures. The results suggested a slight, but not significant, difference between the two groups in the SOD and MDA scores. More conclusive results are required to determine the enzymatic and non-enzymatic markers of oxidative stress in larger sample sizes and during different stages of treatment.


2020 ◽  
Vol 23 (4) ◽  
pp. 450-461
Author(s):  
Alireza Amani ◽  
◽  
Ali Kamali ◽  
Bahman Sadeghi ◽  
Ali Reza Sistani ◽  
...  

Background and Aim: Ankle injuries are among the most common musculoskeletal injuries in sports, accounting for 10% to 15% of all injuries. Since controlling pain and inflammation in ankle sprains is one of the main goals of treatment, we decided to compare the therapeutic effects of Cheleh daghi Herbal ointment with a common therapeutic gel such as piroxicam. Methods & Materials: This study was performed as a double-blinded clinical trial for 6 months from January 2019 to August 2019. After referral, all patients completed the consent form, and the patientchr('39')s details and study variables were recorded by the evaluator in the research form. To measure joint inflammation, we measured the ankle with a meter tape in the ankle area (cm) and recorded. A goniometer was also used to measure the degree of ankle movements. The symptoms of ankle ecchymosis were also checked by physical examination and observation and recorded in the checklist. Statistical analysis was performed in SPSS V. 18 using statistical tests (the Mann-Whitney U test, the Chi-square, and the independent t-test). Ethical Considerations: The Research Ethics Committee of Arak University of Medical Sciences approved the study (Code: IR.ARAKMU.REC.1396.55) and registered by the Clinical Trial (Code: IRCT2017071720258N53). Results: The Mean±SD age in the control group was 34.2±8.6 years, and in the case group was 35.4±8.9 years. There was no statistically significant difference according to the Mann-Whitney U test (P<0.05). Also, the Mean±SD height in the control group was 1.7±0.12 m and in the case group was 1.72±0.11 m. The results also showed a statistically significant difference between the two groups studied before and after the intervention regarding the mean indicators of pain, swelling, and inflammation around the joints (P<0.05). Conclusion: The results of our study showed that Cheleh daghi Herbal ointment for 3 weeks could be more effective in reducing local pain and inflammation than piroxicam gel treatment.


2018 ◽  
Vol 90 (2) ◽  
pp. 136 ◽  
Author(s):  
Cem Yücel ◽  
Salih Budak ◽  
Mehmet Zeynel Keskin ◽  
Erdem Kisa ◽  
Zafer Kozacioglu

Objective: To observe the clinical practice of salvage microdissection testicular sperm extraction (mTESE) in patients with non-obstructive azoospermia (NOA) and to determine the factors that may predict the presence of spermatozoa in preoperative salvage mTESE. Methods: We retrospectively reviewed the medical records of 445 patients with the diagnosis of NOA, who had undergone the mTESE operation consecutively in our institution between the dates of March 2008 and June 2017. The study included a total of 49 patients with failure to detect spermatozoa in the first mTESE and who had then undergone salvage mTESE. In order to investigate the factors that predict the result of salvage mTESE, the patients were classified into two groups according to the outcome of salvage mTESE, as those with and without spermatozoa retrieval. Patients in these two groups were compared with regard to age, body mass index, history of varicocele, history of cryptorchidism, duration of infertility, outcomes of genetic analysis, results of hormone profiles and the testicular histopathology results of the first mTESE. Results: The sperm retrieval rate following salvage mTESE was observed to be 42.8%. Statistically a significant difference was determined between the mean follicle stimulating hormone (FSH) values of the groups (p = 0.013). No significant difference was observed between the groups with regard to the remaining parameters.Conclusion: It was observed that among the factors that predict the success of sperm retrieval in salvage mTESE in patients with NOA and previous unsuccessful sperm retrieval in mTESE operation, only the pre-operative FSH level was observed to significantly correlate with the success in salvage mTESE.


2019 ◽  
Vol 13 (1) ◽  
pp. 46-50
Author(s):  
Elham Yarahmadi ◽  
Parnaz Borjian Boroujeni ◽  
Mehdi Totonchi ◽  
Hamid Gourabi

Background: EIF1AY is one of the genes essential for normal spermatogenesis and is located in azoospermic factors region. Objective: The present study was designed to investigate the EIF1AY gene nucleotide variations, and correlate it with spermatogenic maturation arrest and azoospermia in Iranian population. Methods: A total number of 30 Iranian idiopathic non-obstructive azoospermic patients were selected as case group and 30 fertile men served as a control group who had at least 1 child. Nucleotide variation was analyzed in exon 3 and exon 5 in EIF1AY gene of both groups. DNA extraction from peripheral blood samples of selected individuals was done followed by amplification by PCR and sequencing with Sangar method. Results: Totally 3 single nucleotide variations were identified: one in the intronic region of exon 3, next one in non-coding transcript exon variant (rs13447352) and the third one in the exonic region of exon 5, all were registered in NCBI-Gene database. Conclusion: There was no statistically significant difference in the incidence of nucleotide variation between 2 study populations (p > 0.05). Further studies are required to specify the effects of Y: T20588295G variation on modification of protein structure, as well as the expression pattern of the gene and its association with azoospermia.


2017 ◽  
Vol 2017 ◽  
pp. 1-7 ◽  
Author(s):  
Shakil Mahmood ◽  
Matiur Rahman ◽  
Subrata Kumar Biswas ◽  
Shaikh Nazmus Saqueeb ◽  
Shiblee Zaman ◽  
...  

Despite the abundant sunlight, vitamin D deficiency is prevalent in South Asian countries including Bangladesh. Information on vitamin D level is insufficient in adults particularly in female garment workers in Bangladesh. This study was designed to evaluate the status of vitamin D, parathormone (PTH), calcium, and alkaline phosphatase (ALP) among the female garment workers in Bangladesh. Blood samples were collected from female garment workers (n=40, case group) and general female workers (n=40, control group) in Dhaka. Serum vitamin D, PTH, calcium, and ALP were measured by chemiluminescence microparticle immunoassay. The mean level of vitamin D was significantly (p<0.001) lower in case (14.2±2.6 ng/mL) than in the control (22.4±2.4 ng/mL) group. No significant difference was found at mean of PTH and calcium between case (33.9±17.2 pg/mL;9.1±0.6 mg/dL, resp.) and control (35.9±16.3 pg/mL;9.3±0.6 mg/dL, resp.) group. The mean ALP in case (117.2±14.4 U/L) group was significantly (p<0.001) higher than the control group (80.5±30.6 U/L). Overall, PTH level did not show significant correlation with vitamin D. However, calcium and ALP levels showed a significant positive (p<0.05) and negative (p<0.001) correlation with vitamin D, respectively. This study indicates a high prevalence of vitamin D deficiency in the female garment workers in Bangladesh.


2011 ◽  
Vol 2 (6) ◽  
pp. 235-245 ◽  
Author(s):  
Bertha Pangaribuan ◽  
Irawan Yusuf ◽  
Muchtaruddin Mansyur ◽  
Andi Wijaya

Objective: The role of insulin resistance in polycystic ovary syndrome (PCOS) has been established. However the role of adiponectin and resistin in the relationship between insulin resistance as markers of obesity and PCOS has not been conclusive. This study aims to determine the influence of the serum levels of adiponectin and resistin on PCOS, and assess possible correlations with the hormonal and metabolic parameters of the syndrome and obesity. Methods: This study continued a case control study that had finished recruiting 24 subjects of reproductive women with PCOS as a case group, and 24 subjects of normal ovulatory reproductive women without hyperandrogenism as a control group. Further, only 18 subjects of the control group had a body mass index (BMI) <25 kg/m2 and were included the data analysis, whereas others were excluded. Therefore, these study data were divided into three groups. Twenty-four PCOS patients from the case group were allocated to two groups, A ( n = 14) patients had PCOS + BMI ≥25 kg/m2; B ( n = 10) patients had PCOS + BMI <25 kg/m2. Group C was the control group of 18 reproductive women without PCOS + BMI <25 kg/m2. Blood samples were collected between day 3 and 5 of a spontaneous menstrual cycle, at 07:00 to 09:00, after overnight fasting. Serum levels of follicle-stimulating hormone (FSH), luteinizing hormone (LH), total testosterone, prolactin, sex hormone-binding globulin (SHBG), glucose, insulin, adiponectin and resistin were measured. Results: Serum adiponectin levels were significantly decreased in group A compared with group B and group C. No significant difference existed in adiponectin between group B and group C. Homeostasis Model of Assessment—Insulin Resistance (HOMA-IR) value in group A was found to be significantly higher than group C, but no significant differences were found between group B and group C or between group A and group B. There was no significant difference in serum resistin between all groups, nevertheless the resistin-to-adiponectin (R:A) ratio was significantly decreased in group A compared with groups B and C. In a multiple regression model, BMI, testosterone and insulin resistance were the major determinants of hypoadiponectinemia. However, only BMI was the major determinant of the resistin represented by the R:A ratio. Conclusions: Serum adiponectin levels and the ratio of resistin to adiponectin levels are reduced in obese women with PCOS. These results suggest that, by reducing adiponectin serum level, hyperandrogenemia, together with nutritional status of obesity, might contribute to insulin resistance in the pathogenesis of PCOS.


Author(s):  
Iman Namjoo ◽  
◽  
Amirmansour Alavi Naeini ◽  
Mostafa Najafi ◽  
Mohammad Reza Aghaye Ghazvini ◽  
...  

Introduction: Recent studies have identified ADHD as an inflammatory condition with immunological and oxidative responses. Therefore, it is necessary to examine these factors in the patients. This study aimed to investigate the relationship between the dietary intakes of antioxidants, SOD activity and the serum levels of inflammatory factors in children with ADHD. Materials and methods: This study was a retrospective case-control study with 64 ADHD children aged 6 to 13 years. The demographic questionnaire, FFQ, and Baecke physical activity questionnaire were used. SOD activity and the serum level of inflammatory factors (homocysteine, IL-6, and CRP) were measured in all patients. Based on the values obtained from CRP, 32 patients were included in the case group (CRP≥1 mg/L) and 32 patients in the control group (0≤CRP<1 mg/L). Results: There was no significant difference between the two groups as regards age, sex, weight, height, body mass index (BMI). In the case group, the mean SOD activity score (P=0.034), the physical activity score (P=0.04) and the zinc intake (P=0.02) and homocysteine levels were higher than they were in the control group (P=0.001). Among the variables in the presence of each other, the best predictors were homocysteine (OR: 1.34, 95% CI: 1.082-1.670, P=0.029) and physical activity (OR: 0.85, 95% CI: 0.761-0.952, P=0.022) respectively, and in the presence of these two variables, other variables were not significant predictors. Conclusion: The present study showed that the level of inflammatory factors in the case group was significantly higher than the control group. Homocysteine and physical activity can predict the inflammatory status induced by CRP. Decreasing the antioxidant activity of SOD with increasing CRP levels, indicates oxidative stress associated with inflammation in these patients.


2018 ◽  
Vol 21 (1) ◽  
pp. 51-56
Author(s):  
Mahdiyeh Mirnam Niha ◽  
Mehdi Salehi Barough

Background and aims: Gamma radiation is widely being used in medical-imaging centers. The aim of this study was to measure possible alterations in serum zinc and selenium levels among nuclear medicine staff. Methods: This cross-sectional study was carried out on 30 nuclear medicine staff as well as on 10 individuals as the control group. Blood samples (20 mL) were obtained from the participants and the serum specimens were isolated by centrifugation at 4000 rpm for 7 minutes. The samples were then used for measurement of zinc and selenium levels. Zinc and selenium levels were measured using atomic absorption spectroscopy (AAS) with a graphite furnace. The mean serum levels of zinc and selenium were compared using SPSS. Results: The mean level of zinc in the radiated group (70.91±14.46 μmol/L) was significantly lower than that in the control group (89.75±17.35 μmol/L) (P=0.002). A negative significant correlation was found between the duration of exposure to radiation and zinc levels (P=0.005). Furthermore, a negative significant relationship was observed between the mean radiation dose after 5 years and zinc concentration (P=0.019). Non-significant difference was found in the mean level of selenium between control (1.71±0.35 μmol/L) and radiation (2.13±1.12 μmol/L) groups. Furthermore, no significant correlation was found between selenium level and exposure time. Conclusion: Based on the results, declined level of zinc can be considered as one of the possible mechanisms caused by gamma radiation on cells which may be associated with oxidative damage. Therefore, zinc therapy can be helpful for those who work at medical radiation centers; however, it merits further studies.


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