Despite the valuable results achieved in identification of genes and genetic changes associated with type 2 diabetes (T2D), lack of consistency and reproducibility of these results in different populations is one of the challenges lie ahead in introduction of T2D candidate genes. Therefore, the present review article aimed to provide an overview of the most important genes and genetic variations associated with development of T2D based on a systematic search in well-known genetic databases. For this purpose, the National Center for Biotechnology Information, Database of Genotypes and Phenotypes (NCBI dbGaP) and Human Genome Epidemiology Network (HuGENet) database were searched to find the most important genes associated with T2D. In addition, a gray literature search was conducted to collect any available information released by laboratories offering genetic tests such as deCODE genetics and 23andMe. Candidate genes were selected among the results of all databases based on the highest level of similarity. Subsequently, without any time restriction, PubMed, Scopus and Google scholar databases were searched using relevant Medical Subject Headings (MeSH) terms to access related articles. The relevant articles were screened to make a conclusion about the genes and genetic variations associated with T2D. The results revealed that four selected candidate genes, in order of importance, were TCF7L2, CDKAL1, KCNJ11, and FTO. The most significant single nucleotide polymorphism (SNP) associated with T2D in the TCF7L2 gene was rs7903146 however, the results showed a wide range of variation from slight association in the Amish (P= 5.0×10-2) to strong association in European descent populations (P= 2.0×10-51). Then, rs10440833 mapping to the intronic region of the CDKAL1 gene showed significant association with T2D (P= 2.0×10-22). In the KCNJ11 gene, a missense variation (rs5215) in exon one was found to have the highest association with T2D compared with other SNPs discovered in this gene (P= 5.0×10-11). Finally, rs8050136 located in the first intron of the FTO gene had the strongest association with T2D (P= 2.0×10-17). On the basis of these results, it can be concluded that the current study can be introduced as a model for achieving well-documented results among spectrum of information available in genetic databases based on a systematic search strategy. The candidate genes and genetic variations presented in this review article might be applied for early diagnosis, prevention, and treatment of T2D.
Background: Infertility is defined as failure to achieve pregnancy after one year of unprotected sexual intercourse. Infertility can be related to male or female factors. Varicocele is the most common cause of infertility in men that is correctable with surgery. The purpose of this study was to determine the effects of recombinant follicle-stimulating hormone (rFSH) on semen parameters in infertile men.
Methods: This randomized clinical trial was done on 96 infertile men admitted to the Women's General Hospital Mohebe-Yas from September 2014 to September 2015. Inclusion criteria were to include varicocelectomy for unilateral idiopathic varicoceles and consent to participate in the study. Allergy to the drug combination and patient dissatisfaction were exclusion criteria. Patients participating in the study were divided into two groups randomly, one group received recombinant FSH three times a week and the other group received a placebo (normal saline) in the same way. After three months, the improvement of semen parameters, including motility, morphology and sperm count as well as the complications were determined in both groups. The data were analyzed with statistical software SPSS version 13 (Chicago, IL, USA).
Results: A total of 96 patients were enrolled in two groups of 48 men and women both groups were matched in terms of underlying factors. The rate of improvement in the morphology and motility of sperm in the treated group was significantly more than the placebo group (P= 0.0001) but the changes in sperm count were not significantly different between the groups (P= 0.495).
Conclusion: In summary, based on the results obtained in this study, it can be concluded that recombinant FSH is effective on improving semen parameters in infertile men after varicocelectomy compared with a placebo group and its major impact is on the morphology and motility of sperm.
Background: Receptivity of endometrium has a critical role in the establishment of pregnancy after embryo transfer in the treatment process of infertile couples. As the glycoprotein CA-125 is a product of human endometrium and is measurable in the peripheral circulation, it is investigated whether it might serve as an indicator of endometrial receptivity and predictor of pregnancy following Intracytoplasmic sperm injection (ICSI).
Methods: In an observational diagnostic study, over a twelve-month period (from August 2013 to July 2014), all couples with male-factor infertility who attended to infertility clinic of Moheb Yas Hospital, Tehran and were candidate of performing ICSI, were invited to participate in the study. Based on the inclusion criteria of study, 64 women were eligible to take part in the study. They were assessed for serum CA-125 levels on the day of human chorionic gonadotropin (HCG) administration and also on the day of oocyte retrieval. After ICSI, the possibility of pregnancy was assessed by measuring serum concentration of &beta-HCG on 14 days after embryo transfer and also by visualizing the gestational sac by trans-vaginal ultrasound examination on four to five weeks after transfer. The pregnancy rate was compared between those with normal and high CA-125 levels.
Results: Among the subjects, 15 patients (23.4%) had high CA-125 levels, and totally 19 patients (29.7%) experienced pregnancy. Among those with normal and high CA-125 levels, 16 patients (32.7%) and 3 subjects (20%) experienced pregnancy, respectively, that showed no statistically significant difference according to Chi-square test (P=0.348). Also, according to the Fisher’s exact test, there was no correlation between CA-125 levels and the rate of pregnancy on the basis of body mass index (BMI).
Conclusion: Totally, according to the obtained results in current study, it may be concluded that serum CA-125 levels has no prognostic value in prediction of the outcomes of ICSI among infertile couples with male-factor infertility.
Background: The major issue to address in obesity etiology is to identify the genetic changes in the disease and their occurrence in different populations. Uncovering these genetic changes may be important in developing potential biomarkers for early diagnosis and prognosis of obesity. Among all obesity susceptibility genes studied before, convincing association has been found with variants in the FABP2 gene and this disease; however, the contributions of these genetic variants in different populations and ethnic groups are not similar. Accordingly, this study was carried out to replicate the previous findings to assess whether a missense variation (rs1799883) in this gene is associated with obesity in the Tehran Lipid and Glucose Study (TLGS) population.
Methods: A case–control study was designed to determine the possible association between rs1799883 and occurrence of obesity “in phase IV of the study between the years of 2008 to 2011”. The study group consisted of 217 subjects with body mass index (BMI, kg/m2) greater than 30 as cases and 159 healthy individual as control group (18
Results: The results showed no significant differences between case and control groups in terms of allele frequency (P=0.61). According to the findings, the presence of T allele as the risk allele was not associated with increased risk of obesity in carriers of this allele compared to individuals carrying the normal allele (OR=1.17; CI%95= 0.62-2.19, P=0.61).
Conclusion: The results did not support the previous findings of an association between genetic polymorphism in the FABP2 gene and risk of obesity. However, a number of replicated studies with other ethnicity are suggested to make a conclusion about the role of this genetic polymorphisms and susceptibility to obesity in Iranian population.
Background: Hypertension is one of the most common diseases in recent century with several complications. The purpose of this study was to evaluate the effect of hydroalcoholic extract of Juglans regia L. leaves (Walnut tree) on blood pressure and its interaction with the adrenergic system in male rats.
Methods: In this experimental study that established in the physiology lab, School of scinse in Shiraz University from September to October 2013, in order to determine some of hydroalcoholic extract of Juglans regia L. leaves effect on blood pressure, the present study was performed by following procedure: 10 adult male wistar rats weighing between 180-250g were used. They were divided into two groups (Each group contained 5 rats) randomly: Juglans regia L. leaf extract group and Juglans regia L. leaf extract and adrenaline group. Then each rat was anesthetized by IP injection of 1.2 g/kg urethane. After tracheostomy the femoral vine and artery were cannulated for drug injection and blood pressure recording respectively. Arterial cannula for recording arterial blood pressure connected to a pressure transducer (PowerLab, ADInstruments, Sydney, Australia). Blood pressure parameters were recorded before and after IV administration of hydroalcoholic extract of Juglans regia L. leaf, solvent, adrenalin and extract with adrenaline.
Results: The result showed a significant decrease of mean arterial pressure, systolic and diastolic pressure in response to extract with compare to control and sham group (P<0.05). Also a significant decrease of blood pressure showed in presence of walnut leaf extract and adrenaline with compare to sham group (P<0.05).
Conclusion: It can be concluded that hydroalcoholic extract of Juglans regia L. leaf suggested as a hypotensive agent. It seems that this effect is probably due to inhibitory effect on adrenergic system.
Background: Coronary artery disease is considered as main factor for patients’ hospitalization. Chest pain is the most common symptoms of patients and its assessment is an important factor in coronary artery disease. So, this study aimed to determine the relationship between the severity of chest pain with physiological indexes in patients with coronary artery disease.
Methods: This study was a descriptive-analytical design that performed on 80 patients with that were hospitalized in coronary care unit of Shahid Mofatteh Hospital in Varamin city, Iran, from March to September, 2014. In this study, the relationship between the chest pain severity and blood pressure, pulse rate, respiratory rate, O2 saturation and ST segment alterations were assessed. Finally, the gathered data were analyzed by descriptive and inferential statistics.
Results: The mean of chest pain severity was 6.51±2.14 in patients. Patients’ age was between 26 to 85 years old and the mean of age was 60.79±13.79 and there was no significant correlation between age and chest pain severity (P=0.985). Also male and female patients were equal. There was no significant difference between chest pain severity of men and women (P=0.471). The findings of study showed no correlation between chest pain severity and heart rate (r=-0.174 and P=0.122), respiratory rate (r=-0.013 and P=0.909), O2 saturation (r=0.051 and P=0.651), ST segment alterations (r=0.07 and P=0.539). Also, there was no significant difference between chest pain severity and systolic pressure (P=0.353), diastolic blood pressure (P=0.312) and body mass index (P=0.256) among patients.
Conclusion: In this study, there were not enough evidences for relation between chest pain and physiological indexes in patients with coronary artery disease. So performing more studies in another settings and conditions recommended.
Hemoglobinopathies are most common inherited disorders in the world; approximately 7 percent of the worldwide population and 5-6 percent of population of Iran are carriers. The hemoglobin disorders inherit as autosomal recessive and are very common in the Mediterranean area and much of the Asia and Africa. The control of this inherited disorders need to genetic counseling and accurate screening by more advanced and more accurate methods. This study explains features of current Iran hemoglobin disorders, nominates the accessible methods for screening them and introduces the capillary zone electrophoresis as a rapid and more accurate method. The required data were extracted of various articles and then for good explanation, current Iran hemoglobinopathies properties were showed in the tables and electropherograms of important hemoglobin disorders in Iran population were provided for help to interpretation results of blood tests by capillary zone electrophoresis method. Hemoglobin disorders are including thalassemias and hemoglobin variants; Disruption in the production and malfunction of globin chains cause types of hemoglobin disorders. We cannot introduce one of clinical laboratory tests as critical and basic method for screening and distinguishing types of inherited hemoglobin disorders as alone. For distinguishing the types of them must be prepared enough information and data of the hemoglobin disorders and for more accurate analysis must be used simultaneously different methods as gel electrophoresis, high performance liquid chromatography, isoelectric focusing, capillary zone electrophoresis or molecular tests. The capillary electrophoresis is an accurate and rapid method for screening types of the hemoglobin disorders. Other side this method cannot analyze all of them, so must be used biochemical, biophysical and molecular methods for confirmation the results. This review showed we can use the capillary electrophoresis and HPLC as two complementary methods for hemoglobinopathies screening. We can analyze by the methods more hemoglobin disorders and decrease more laboratory errors. Moreover, we must have patient history, hematological indices, information and data of types of hemoglobinopathies. The patient history and complete blood count results as red blood cell count, mean corpuscular volume, mean corpuscular hemoglobin and mean corpuscular hemoglobin concentration can be useful and helpful in screening the hemoglobin disorders and then distinguishing all of hemoglobin disorders.
Background: Obesity is one of the most important problems in developed countries and cause cardiovascular diseases, diabetes and hypertension. The complex phenotype influenced by both genetic and the environment factors. One of the most important genes which is effective in this phenotype is peroxisome proliferator-activated receptor gamma (PPAR-γ). This study was carried out of investigate the association of Pro12Ala (rs1801282) polymorphism in mentioned gene with obesity in Tehran Lipid and Glucose Study (TLGS).
Methods: The present study done in September 2014 in Cellular and Molecular Endocrine Research Center, Research Institute for Endocrine Sciences, Shahid Beheshti University of Medical Sciences. For the present case-control study 239 subjects with excess weight and body mass index more than 30 kg/m2 as a case and 240 subjects with normal weight and body mass index less than 25 kg/m2 as a control were selected. The rs1801282 was proliferated, detected and genotyped using tetra-primer amplification refractory mutation system-polymerase chain reaction (ARMS-PCR) method.
Results: The results indicated that there was significant association between the presence of risk allele G of rs1801282 and obesity disease in the TLGS population (P=0.000). Genotype and allelic frequencies of rs1801282 in patient and healthy group were: 55.2% and 23.8% for GG, 24.3% and 30.4% for GC, 20.5% and 45.8% for CC, 67% and 39% for G, 33% and 61% for C, respectively.
Conclusion: The results of study indicated that the presence of G allele could be increase 1.7 the risk of obesity. These differences in patient and healthy group lead us to select this marker as a genetic marker to predict the risk of obesity. There are statistical differences between the distribution of mentioned polymorphism in Tehranian population and other populations. However, replicating the study in a larger population of Tehranian people with more affected cases is suggested to generalize the results of this study.
Background: Dyspareunia is a pain that is occurs in the genital area before, during or after intercourse and is an important factor for sexual dysfunction. The aim of this study was to evaluate the effect of pelvic floor physical therapy on sexual function and muscle strength and endurance of pelvic floor (as a non-invasive therapy) in women with dyspareunia.
Methods: In this clinical trial study, 32 women in the age range of 20-50-year-old and sexually active with complaints of dyspareunia, before the investigation were examined in terms of genital health and strength and endurance of the pelvic floor muscles. After the confidence of mental health, patients underwent pelvic floor rehabilitation for 10 sessions during 3 months. After assessment, myofascial release techniques and progressive pelvic floor muscles exercise was performed for patients based on their primary strength. Finally, patients were compared in terms of the severity of dyspareunia, sexual performance status (by using female sexual function index questionnaire), improvement of symptoms, pelvic floor muscle strength and endurance before (first session of physiotherapy) and after (after 3 months) investigation.
Results: In the remaining 32 patients with dyspareunia with a mean age of 38±1.24 years, desire index score 0.95 unit, arousal index score 1.01 unit, lubrication index score 0.67 unit, orgasm index score 0.71 unit, satisfaction index score 1.03 unit, pain index score was increased 1.05 unit, strength index score 2.44 unit, endurance index score 7.06 unit were increased in comparison to before the investigation that showed a significant different with P< 0.0001.
Conclusion: According to obtained results, pelvic floor physical therapy had a significant effect in women with dyspareunia. So that the severity of dyspareunia, pelvic floor muscle strength and endurance had clinically significant improvement after pelvic floor physiotherapy.
Background: The ability to recognize the severity of the disease in those who their survival depend entirely on admission to the intensive care unit, is very valuable clinically. This study aimed to evaluate the clinical effectiveness of modified sequential organ failure assessment (MSOFA) scale to predict mortality and length of stay in intensive care unit patients respectively.
Methods: This was a retrospective cross-sectional study conducted on hospital records of patients admitted to the intensive care unit. All patients’ records who admitted to the intensive care unit of Kowsar Hospital, Semnan city (the capital of the province), Iran, in 2015 considered as the sample. Collecting data were done during 4 weeks in April and May 2016. The data collection tool was a demographic questionnaire and modified sequential organ failure assessment scale. Exclusion criteria included discharge in the first 24 hours after admission, the patient died a few hours after admission and incomplete information to complete the modified sequential organ failure assessment form.
Results: The study of 105 patients' records of the intensive care unit showed that 45.7% of patients were died, 15.2% and 39% were discharged and moved to other wards respectively. The results of logistic regression analysis and receiver operating characteristic (ROC) curve showed that this criterion had moderate sensitivity and specificity for prediction of mortality and length of stay in ICU patients (Area=0.635, CI= 0.527-0.743) and each unit increase in modified sequential organ failure assessment score is accompanied by increasing 32 percent chance of death (OR=1.325; 95% CI:1.129,1.555; P= 0.001(. Also each unit increase in modified sequential organ failure assessment (MSOFA) score accompanied by increasing 19% length of stay in ICU (OR=1.191; 95% CI: 1.034, 1.371; P= 0.015(.
Conclusion: The results of this study showed that the modified sequential organ failure assessment scale is not useful tool to predict the length of stay and mortality of patients admitted to the intensive care unit.
Background: Small molecule Purmorphamin (PMA) is the agonist of smoothened protein in Sonic hedgehog (Shh) signaling pathway. Effect of purmorphamin small molecule on differentiation of mesenchymal cells into bone tissue has been studied previously. Use of Shh causes progression of neural differentiation, and the differentiated cells express specific neural markers. Neurofilament (NF) and acetylcholine esterase (Chat) are specific markers of motor neurons and their expression in differentiated cells indicates their conversion into motor neurons. The aim of this study was to evaluate the ability of PMA to differentiate the human endometrial stem cells (hEnSCs) into motor neurons.
Methods: This analytical study was done in Tehran University of Medical Sciences laboratory on September of 2015. In this study hEnSCs were enzymatically extracted from endometrial tissue. After third passages, the flow cytometry was done for mesenchymal stem cells markers. The mesenchymal stem cells were divided into control and differentiated groups. FBS 10%+DMEM/F12 was added to the culture medium of control group and the differentiating group was treated with differentiating medium containing N2, PMA, DMEM/F12, FBS, B27, IBMX, 2ME, FGF2, RA, BDNF. After 21 days immunocytochemistry (ICC) test was done for the expression of NF and Chat proteins and Real-time PCR analysis for expression of neural markers such as NF, Chat, Nestin and GFAP (as glial marker) at mRNA level.
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Results: The flow cytometry analysis showed that hEnSCs were positive for mesenchymal markers CD90, CD105 and CD146 and negative for endothelial marker CD31, and hematopoietic marker CD34. The immunocytochemistry and Real time-PCR results showed that the cells treated with PMA expressed motor neuron markers of NF and Chat. Conclusion: According to the results of this study, it can be concluded that small molecule PMA has the potency to induce the differentiation of hEnSCs into neural cells, specifically motor neurons by activating Shh signaling pathway. |
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Background: Nowadays, stroke can be considered as the one of the major causes of disability and mortality worldwide. However, relationship between serum C-reactive protein (CRP) level with stroke early prognosis has not been well studied, especially in Iran. Therefore, the present study aimed to study the relationship between CRP level of serum in patients with acute stroke at first 24h of admission and stroke early prognosis. Methods: This prospective cross-sectional study was performed on 50 patients with acute stroke who were admitted at Emergency Ward of Shahid Rajaie Hospital, in Tonekabon City, Iran, between May 2013 to July 2014. In first step, valid clinical diagnosis was made based on CT scan and magnetic resonance imaging (MRI) of the patients. The ethical observations were considered for all patients. The serum level of CRP was measured by standard method, at first 24h of the admission. Clinical information and risk factors (age, gender, type of stroke, high blood pressure, diabetes mellitus) was detected for each patient. On discharge, early prognosis by modified Rankin Scale (mRS) (mRS< 3= good and mRS≥ 3= bad) was also recognized. In this study, statistical analysis was performed using SPSS software, and logistic regression method was used (P< 0.05). Results: The results of this study showed that 38% of the patients were 70-80 years old. Also, 52% of the patients were male and 48% were female. The serum CRP level of patients at the first 24h of admission increased in all studied patients. The mean of the serum CRP level was 12.82 that were higher than the normal range. The statistical analysis showed that there was no significant relationship between the serum CRP level and the stroke early prognosis. Conclusion: Although the serum CRP level was not recognized as an anticipator factor for stroke prognosis at this study, it is recommended to performance of more studies by case-study method on this setting. |
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