scholarly journals Genotyping of the EIF1AY Gene in Iranian Patients with Non-Obstructive Azoospermia

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.

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.


2021 ◽  
Vol 0 (0) ◽  
Author(s):  
Melek Pehlivan ◽  
Tülay K. Ayna ◽  
Maşallah Baran ◽  
Mustafa Soyöz ◽  
Aslı Ö. Koçyiğit ◽  
...  

Abstract Objectives There are several hypotheses on the effects of the rs1738074 T/C single nucleotide polymorphism in the TAGAP gene; however, there has been no study on Turkish pediatric patients. We aimed to investigate the association of celiac disease (CD) and type 1 diabetes mellitus (T1DM) comorbidity with the polymorphism in the TAGAP gene of Turkish pediatric patients. Methods Totally, 127 pediatric CD patients and 100 healthy children were included. We determined the polymorphism by the allele-specific polymerase chain reaction method. We used IBM SPSS Statistics version 25.0 and Arlequin 3.5.2 for the statistical analyses. The authors have no conflict of interest. Results It was determined that 72% (n=154) of only CD patients had C allele, whereas 28% (n=60) had T allele. Of the patients with celiac and T1DM, 42.5% (n=17) and 57.5% (n=23) had T and C alleles, respectively. Of the individuals in control group, 67% (n=134) had C allele, whereas 33% (n=66) had T allele. Conclusions There was no significant difference in the genotype and allele frequencies between the patient and control groups (p>0.05). There was no significant association between the disease risk and the polymorphism in our study group.


2021 ◽  
Vol 9 ◽  
pp. 205031212110202
Author(s):  
Rgda Mohamed Osman ◽  
Mounkaila Noma ◽  
Abdallah Elssir Ahmed ◽  
Hanadi Abdelbagi ◽  
Rihab Ali Omer ◽  
...  

Objectives: Rheumatoid arthritis is a chronic inflammatory autoimmune disease. This study aimed to determine the association of interleukin-17A-197G/A polymorphism with rheumatoid arthritis in Sudanese patients. Methods: A case–control study was conducted between March and December 2018. Clinical and demographic data of the study participants were collected and analyzed. Polymerase chain reaction restriction fragment length polymorphism molecular technique was done to investigate interleukin-17A-197G/A polymorphisms. All statistical tests were considered statistically significant when p < 0.05. Results: The study population included 266 participants aged between 1 and 85 years, with an average of 40 years, classified into 85 (31.2%) cases (mean age 48.5 ± 11.3 years), and 181 (68.8%) controls (mean age 35.3 ± 15.9 years). The interleukin-17A homozygote AA genotype was more frequent among the control group compared to the case group; 95 (52.5%) and 7 (8.2%), respectively. The homozygote GG and the heterozygote AG genotypes were proportionally not different among the cases and control groups; 13 (54.2%) and 11 (45.8%), and 65 (46.4%) and 75 (53.6%), respectively. According to the distribution of interleukin-17A genotypes, a statistically significant difference was observed among cases with the interleukin-17A AA and AG genotypes, p values 0.001 and 0.004, respectively. For the association interleukin-17A genotypes and family history a negatively significant association was reported (95% confidence interval, –0.219, p value = 0.001). There was also a negatively significant association of interleukin-17A genotypes and anti-cyclic citrullinated peptide (95% confidence interval, −0.141, p value = 0.002). Conclusion: This study is the first study in Sudan established the association between interleukin-17A-197G/A (rs2275913) polymorphisms and susceptibly to rheumatoid arthritis. These findings appeal for further research in Sudan to investigate the exact role of IL-17A in immunopathology and disease severity among Sudanese rheumatoid arthritis


2015 ◽  
Vol 55 (5) ◽  
pp. 243
Author(s):  
Hilda Hilda ◽  
Bidasari Lubis ◽  
Hakimi Hakimi ◽  
Olga Rasiyanti Siregar

Background Cancer treatment in children influences the quality of life of patients and their families. The Pediatric Quality of Life (PedsQL) inventory is a questionnaire to assess quality of life of the healthy and ill children. Objective To compare quality of life in children with cancer and their normal siblings, and to compare quality of life in those with hematologic malignancies to those with solid tumors. Methods A cross-sectional study was conducted among 5-to-18- year-olds at the Hematology-Oncology Division at Haji Adam Malik Hospital, Medan, North Sumatera, from May to July 2012. The case group (subjects with cancer) filled the PedsQL 3.0 and 4.0 questionnaires, while the control group (normal siblings) filled only the PedsQL 4.0 questionnaire. Independent T-test was used to compare the quality of life between children with cancer and their normal siblings. Results There were 46 children in each group. The PedsQL 4.0 results in children with cancer and their normal siblings, and PedsQL 3.0 between hematology malignant and solid cancer were as follows: physical function 36.9 vs. 80.7, respectively (95%CI of differences -52.639 to -34.990; P= 0.0001), emotional function 40.4 vs. 69.3, respectively (95%CI of differences -35.912 to -21.914; P=0.0001), social function 71.5 vs. 93.9, respectively (95%CI of differences - 29.238 to -15.587; P=0.0001), school function 20.7 vs. 74.2, respectively (95%CI of differences - 62.124 to -44.832; P=0.0001), and total score 42.1 vs. 79.3, respectively (95%CI of differences - 43.066 to -31.344; P=0.0001). School function was the most affected parameter in children with cancer compared to their normal siblings. Conclusion There is a significant difference in quality of life between children with cancer and their normal siblings, for all four parameters examined by the PedsQL inventory. However, there are no significant differences in quality of life between children with hematologic malignancy and those with solid cancer.


2014 ◽  
Vol 86 (3) ◽  
pp. 212 ◽  
Author(s):  
Orhan Koca ◽  
Mehmet Akyüz ◽  
Bilal Karaman ◽  
Zeynep Yesim Özcan ◽  
Metin Öztürk ◽  
...  

Objectives: Nocturnal enuresis (NE) is very common and is one of the most common causes for patients to be admitted to urology, pediatrics, child psychiatry and child surgery departments. We aimed to investigate the effect on depression and self-esteem of this disorder that can cause problems on person's social development and human relations. Material and methods: 90 patients who were admitted to our clinic with complaints of nocturnal enuresis were enrolled. Investigations to rule out organic causes were performed in this group of patients. Out of them 38 children and adolescents (age range 8-18 years) with primary monosymptomatic nocturnal enuresis (PMNE) agreed to participate in the study In the same period 46 healthy children and adolescents with a similar age range without bed wetting complaint were included in the study as a control group. The age of the family, educational and socioeconomic level were questioned and Piers-Harris Children's Self-Concept Scale (PHCSCS) and Children's Depression Inventory (CDI) forms were filled out. Results: Mean age of the cases (18 females or 47.4% and 20 males or 52.6%) was 10.76 ± 3.82 years whereas mean age of controls (26 females or 56.5% and 20 males or 43.5%) was 10.89 ± 3.11 years. Depression scale was significantly higher (p = 0.001) in the case group than in the control group (10.42 ± 4.31 vs 7.09 ± 4.35). In both groups there was no statistically significant difference by age and sex in terms of depression scale (p &gt; 0.05). Conclusion: NE is widely seen as in the community and is a source of stresses either for children and for their families. When patients were admitted to physicians for treatment, a multidisciplinary approach should be offered and the necessary psychological support should be provided jointly by child psychiatrists and psychologists.


2016 ◽  
Vol 4 (1) ◽  
pp. 45-54
Author(s):  
Yossy Juliarni ◽  
Gunawan Gunawan2

Background: Salivary pH is one of factor which involved in caries development. Decreasing of salivary pH will cause enamel demineralization. Miswak (Salvadora persica) as a toothbrush because it has mechanical and chemical effects such as essential oil and bicarbonate which can stimulate salivary secretion. Thus, it will increase the buffer capacity and salivary pH lead to enamel remineralization. Objective: This study aimed to know the effect of toothbrushing with miswak (Salvadora persica) on salivary pH. Methods: The clinical experiment study with pre-test and post-test control group design. The sample of this study is the students of Faculty of Dentistry, Andalas University, Padang. There are 34 students that divided into two groups randomly that is case and control group. Case group used miswak while control group used conventional toothbrush, respectively brushing horizontally for 2 minutes. Salivary pH was measured using digital pH meter in scale of 0.0 to 14.0 with 0.1 sensitivity from pen type pH meter. The data analyzed by Shapiro-Wilk test continued by paired t-test and Mann-Whitney test. Results: paired t-test produced significant value p=0,001 in case group and p=0,000 in control group. Mann-Whitney test produced significant value p=0.317. There was no significant difference in statistic among these groups. Conclusion: Toothbrushing with miswak has effect on salivary pH. Miswak as effective as toothbrush on salivary pH Keywords:Toothbrushing, miswak (Salvadora persica), Salivar


2021 ◽  
Vol 48 (1) ◽  
pp. 69-79
Author(s):  
Amer Mahmoud Sindiani ◽  
Osamah Batiha ◽  
Esra’a Al-zoubi ◽  
Sara Khadrawi ◽  
Ghadeer Alsoukhni ◽  
...  

Objective: Poor ovarian response (POR) refers to a subnormal follicular response that leads to a decrease in the quality and quantity of the eggs retrieved after ovarian stimulation during assisted reproductive treatment (ART). The present study investigated the associations of multiple variants of the estrogen receptor 2 (ESR2) and follicle-stimulating hormone receptor (FSHR) genes with POR in infertile Jordanian women undergoing ART.Methods: Four polymorphisms, namely ESR2 rs1256049, ESR2 rs4986938, FSHR rs6165, and FSHR rs6166, were investigated in 60 infertile Jordanian women undergoing ART (the case group) and 60 age-matched fertile women (the control group), with a mean age of 33.60±6.34 years. Single-nucleotide polymorphisms (SNPs) were detected by restriction fragment length polymorphism and then validated using Sanger sequencing.Results: The p-value of the difference between the case and control groups regarding FSHR rs6166 was very close to 0.05 (p=0.054). However, no significant differences were observed between the two groups in terms of the other three SNPs, namely ESR2 rs1256049, ESR2 rs4986938, and FSHR rs6165 (p=0.561, p=0.433, and p=0.696, respectively).Conclusion: The association between FSHR rs6166 and POR was not statistically meaningful in the present study, but the near-significant result of this experiment suggests that statistical significance might be found in a future study with a larger number of patients.


2019 ◽  
Author(s):  
Aida Torkzaban ◽  
Seyed Amir Mansour Alavi Naeini ◽  
Akbar Hassanzadeh ◽  
Mehrdad Namdari

Abstract Background Coronary hearth diseases are among the main causes of death in adults. Increase of oxidative stress and defects in antioxidant defense play a major role in endothelium performance and are an effective factor in progress of atherosclerosis. Some studies have also reported different malondialdehyde and total antioxidant capacity among the atherosclerosis patients.Methods In this case-control study, 44 atherosclerosis patients referring to Shahid Madani treatment-education center were considered as the case group; while 44 healthy peoples were placed in the control group. Demographic data and anthropometric indices were measured. Food frequency questionnaire and international physical activity questionnaires were also completed. After 12 hours of fasting, 10 ml blood was sampled from the participants. Uric acid, vitamin C, TAC and MDA were also measured. The data were finally analyzed by SPSS Ver 22 software.Results A significant difference was observed between the two groups in terms of uric acid (P<0.001) and vitamin C (P<0.03). However, mean MDA and TAC showed no significant difference between the two groups. The two groups’ difference in terms of vitamin A, E and beta carotene, zinc and selenium intake was not significant. A significant difference was however detected between the two groups in terms of vitamin C (P<0.047). A significant relationship was also observed between the systolic pressure and CHD (P<0.028).Conclusion Results of this study indicated that the uric acid and vitamin C levels of atherosclerosis patients had significant increase and decrease in comparison with the healthy subjects, respectively. Mean TAC and antioxidant levels of their diets (except for vitamin C) showed no significant difference. Systolic blood pressure of the patients was significantly higher than the controls.


2021 ◽  
Vol In Press (In Press) ◽  
Author(s):  
Ahmad Najafi ◽  
Alireza Sharif ◽  
Mohammadreza Sharif ◽  
Hamidreza Gilassi

Background: Pneumonia, as a fairly prevalent illness, is the main cause of hospital mortality. The major cause of mortality and morbidity of pneumonia is due to bacteria. The presence of multi-drug resistant pathogens and no response to treatment have aroused considerable interest in the use of probiotic components to prevent infections. Objectives: Given that few studies have evaluated the efficacy of probiotics in reducing bacterial pneumonia, the current aimed to evaluate the role of probiotics in decreasing pneumonia. Methods: This double-blind, randomized clinical trial study was conducted on 100 patients diagnosed with bacterial pneumonia in Shahid Beheshti Hospital, Kashan, Iran, during 2018. Patients were randomly classified into two groups (n = 50). One group (case) received two sachets of probiotic/daily for five days, and another group (control) received placebo. Moreover, patients in both groups received the same treatment protocol. All data were extracted from medical records. Chi-square test and independent t-test were used for analysis of data. P < 0.05 was considered statistically significant. Results: No significant difference was seen between case and control groups regarding age, gender, and duration of symptoms before hospitalization (P > 0.05), which implies a completely random classification of two groups. The mean duration of hospitalization, dyspnea, tachypnea, cough, fever, and crackles was significantly decreased in the case group compared to the control group (P < 0.05). Conclusion: The use of probiotics can be effective in reducing the duration of dyspnea, tachypnea, cough, fever, and length of hospitalization. Therefore, probiotics may be considered a promising treatment for the development of new anti-infectious therapy. In addition, the usage of probiotics along with antibiotics is suggested for decreasing pneumonia complications and improving the efficacy of therapy.


Author(s):  
Suchithra Erath Thadathil ◽  
Jaya Koothupalakkal Viswambharan ◽  
Alok Kanjhoor Premdas ◽  
Ashwin Raj

Background: Air pollution leads to several health effects, the major systems affected were respiratory, dermatology, neurology and ophthalmology. This study is an attempt to find out various health effects of pollution, from a food factory to the nearby residents.Methods: A cross sectional comparative study was performed on 248 residents nearby a food factory, situated in rural area of Thrissur district and a comparative group of 266 participants taken 5km away from this factory.Results: Both the groups were comparable in socio-demographic profile except religion and occupation. There was no statistically significant difference (p>0.05) between the use of firewood in both the groups. The symptoms of major systems involved were respiratory (odds ratio 3.9, 95% CI 2.2 to 6.8), dermatological (odds ratio 18.3, 95% CI 8.3 to 40.7), neurological (odds ratio 13.5, 95% CI 4.1 to 44.7) and ophthalmological (odds ratio 5.9, 95% CI 2.6 to 13.6). The major symptoms complained by them were pruritus (32.7%), skin lesions (17.7%), breathlessness (16.9%), itching eye (13.3%) watering from eye (11.7%) and headache (11.3%). All these symptoms among the case group compared to control group were very high and these associations were highly statistically significant (p<0.001).Conclusions: This study showed an increased occurrence of adverse health effects among the individuals who were residing near the food factory. Therefore this study points out the possibility of environmental pollution (mainly air pollution) as a main factor for the increased prevalence of symptoms among those who reside nearby the factory.


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