Journal of Arak University Medical Sciences
Year:2016 | Volume:19 | Issue:6 (111)|Papers Count:12

Background: Niemann-Pick disease (NPD) refers to a group of lysosomal storage diseasesthat causes abnormal metabolism of lipids. One of the genes that play a role in the pathogenesis of thisdisease is SMPD1. To date, more than hundred disease- causing mutations have been identified inSMPD1 gene. Due to the large number of mutations in this gene, direct analysis of the mutations iscostly and time-consuming. Therefore, indirect linkage analysis using polymorphic markers as analternative method for molecular diagnosis of the mutations has been recommended. In the presentstudy, allele frequency of rs1542705 genetic marker was analyzed in the Iranian population. The aimwas to determine the polymorphic information content (PIC) and the possibility of its application inindirect diagnosing of NPD.Materials and Methods: After bioinformatics analysis of the SMPD1 gene region, rs1542705marker was selected for genotyping in Isfahan population. In order to calculate the allele and genotypefrequency of the marker, molecular tests were done on 113 DNA samples of unrelated healthyindividuals by using ARMS-PCR technique. Finally, the information related to the genotype of theindividuals was statistically analyzed using Powermarker and Genepop software.Results: The analyses showed that the studied population was in accordance with Hardy-Weinberg equilibrium. Allele frequency of rs1542705 marker for T and C alleles was 71.24% and28.76%, respectively, and the heterozygosity of the marker was 43.36%. Also, polymorphicinformation content (PIC) was 0.325.Conclusion: The results of this study showed that rs1542705 marker could be considered asan informative marker for molecular diagnosis of Niemann- Pick disease using linkage analysis in thestudied population.

Background: The failure time of permanent tooth is of the form of interval censored since theexact time of tooth decay is not available and it is only known that tooth decay occurs between twoconsecutive visits. There are a few techniques available in the literature for the problem of goodnessof-fit for interval censored data. In this paper, we propose a new goodness-of-fit testing procedure forinterval censored data and employ this for the failure time of the first permanent molar tooth (sixthtooth) data.Materials and Methods: Two methods of goodness-of-fit for interval censored data that arebased on randomly generated data from each interval and averaging over the test statistics or over thep-values are employed for the failure time of the first permanent molar tooth data.Results: The mean of the failure time of the first permanent molar tooth is found to be at 95months. The p-values of the two goodness-of-fit testing procedures for the Weibull, log-normal andgamma models are calculated.Conclusion: By comparing the p-values, the log-normal model is considered as the best modelto describe the failure time of the first permanent molar tooth data.

Background: Azoospermia is defined as the absence of sperm in the semen and is divided intwo types; obstructive and non-obstructive azoospermia. Non-obstructive azoospermia includeapproximately 60% of azoospermia patients. Several genetic and environmental factors can beinvolved in the development of non-obstructive azoospermia. Until now, several genes have beenintroduced as the causing factor of the azoospermia that are involved in spermatogenesis and testiculardevelopment. These genes are located on Y and/or autosome chromosomes.The aim of the presentstudy was to investigate Y chromosome microdeletions and STAG3 gene mutations in Iranian maleswith non-obstructive azoospermia.Materials and Methods: In this study, peripheral blood samples were obtained from 122 menwith idiopathic non-obstructive azoospermia and 100 Normo-sperm men who had at least one childand DNA was extracted. Samples were investigated for the presence of Y chromosome microdeletionsby Multiplex PCR. Then, existence of probable mutations in exon 7 of STAG3 gene was investigatedusing MSSCP (multi-temperature single-strand conformational polymorphism) method.Results: 13 patients (10.66%) had Y chromosome microdeletions, but none of the subjectsshowed mutation in exon 7 of STAG3 gene. The Y chromosome microdeletions were found in none ofthe control individuals.Conclusion: The results showed that Y chromosome microdeletions are the most importantcause of non-obstructive azoospermia and should be considered as the main candidate for maleinfertility diagnostic tests. Mutations in the STAG3 gene are not common among non-obstructiveazoospermia patients.

Background: Few studies have examined the effects of calcium plus vitamin Dsupplementation on metabolic profiles in overweight women with polycystic ovary syndrome (PCOS).This study was conducted to determine the effects of calcium plus vitamin D supplementationon metabolic profiles among overweight women with PCOS.Materials and Methods: This randomized double-blind placebo-controlled clinical trial was conducted among 104 overweight and obess women with PCOS. Participants were randomly assignedinto four groups to receive: 1) 1000 mg/d calcium+vitamin D placebo; 2) 50000 IU/weeks vitamin D; 3) 1000 mg calcium/d and 4) calcium placebo+vitamin D placebo for 8 weeks. Fasting blood sampleswere taken at baseline and after 8 weeks intervention to measure metabolic profiles.Results: After administrating calcium plus vitamin D supplementation, a significant decrease was observed in serum insulin (-3.3±11.4 vs.-1.1±8.5, -1.4±3.0 and+3.1±6.1 mIU/ml, p=0.03), insulinresistance (-0.7±2.4 vs.-0.3±2.5, -0.2±0.6 and+0.8±1.9, p=0.04), malondialdehyde (-0.6±0.3 vs.-0.1±0.2, -0.5±0.2 and+0.6±0.4 μmol/L, p=0.009) and a significant rise was seen in total antioxidantcapacity (+35.2±21.7 vs.+22.5±37.7, +21.1±34.1 and -153.8±65.2 mmol/L, p=0.006) and glutathione (+216.0±79.3 vs.-47.5±60.2, +3.9±31.3 and -160.8±82.9 mmol/L, p=0.001) compared with vitamin D, calcium and placebo groups.Conclusion: In conclusion, calcium plus vitamin D supplementation for eight weeks among women with PCOS had beneficial effects on metabolic profiles.

Background: Irisin is an exercise-induced myokine that is reduced with type 2 diabetes andimproves insulin resistance via the browning of white adipose tissues. However, irisin response to twotypes of exercise in patients with type 2 diabetes is unknown.Materials and Methods: In this study, 22 diabetic Wistar rats (Induced by high-fat diet andinjections Stz) were randomly assigned to 3 groups: high intensity interval exercise (HIIT), lowintensity continuous training (LICT) and control (C). Both HIIT and LICT groups trained on thetreadmill 5 sessions per week for 8 weeks. Blood samples were taken 24 hours after the last trainingsession and plasma irisin, insulin and glucose levels were measured. ANOVA and Tukey post hoctests were used to analyze data and the level of significance has been considered at p≤0.05.Results: Data analysis showed that plasma irisin levels in the HIIT group were significantlyincreased compared to the control group (p<0.05). However, there was no significant differencebetween other groups (p>0.05). Plasma glucose in both HIIT and LICT groups was significantlydecreased compared to the control group (p<0.05). But plasma insulin levels and insulin resistanceindex were not different between groups (p>0.05).Conclusion: The results of this study showed that exercise training can increase plasma irisinin rats with type 2 diabetes. However, these changes are partially dependent on the type of exercisetraining.

Background: The prediction models for infertility treatment success have presented since 25years ago. There are scientific principles for designing and applying the prediction models that is alsoused to predict the success rate of infertility treatment. The purpose of this study is to provide basicprinciples for designing the model to predic infertility treatment success.Materials and Methods: In this paper, the principles for developing predictive models areexplained and then the design of such models in infertility treatments is described in more details byexplaining one sample.Results: The important principles for models that firstly are described are: identifying anddefining the purpose, expected function of model, input data that will be used to develop a model: typeof intervention or diagnostic procedures that can lead to changes in the samples and output definitionor expected result of model function. Further, characteristics of predictive factors in final model, drawing the information flowchart, internal and external validation and attention to the analysisprogramme of results are the important subjects that have been described.Conclusion: If predictive models are used properly, can help treatment team and patients toachive best treatment in ART.

Background: The renin-angiotensin system (RAS) has a major role in development of diabeticnephropathy and blocking of RAS by inhibitors and blocking of angiotesin receptors is standardtreatment for preventing kidney disease and proteinuria. It is reported that VIT-D analogues are able tosuppress renin exertion and improve proteinuria. The aim of this study is to evaluate the effect of VitDanalogue (calitriol) on reducing proteinuria in patients with diabetic nephropathy.Materials and Methods: In this clinical trial study, 132 eligible patients that had diabeticnephropathy and hadn’t vit D deficiency were selected. The patients were divided into two equalgroups. First group received the combination of losartan 25mg twice daily and calcitriol 0.25mg andsecond group received losartan 25 mg twice daly alone for 3 months. The FBS, lipid profile, ESR-CRPBUN, Cr, HbA1c, Ca, P, and 24 hours urine protein were evaluated in all patients at beginning and endof study and the results were statistcally compared.Results: The 24-hour urine protein in losartan and calitriol group was improved compared tolosartan. This difference was statistically significant (p=0.003). As well as, in kidney function (BUN, Cr) in the losartan and calcitriol group compared to losartan alone was significantly improved (p<0.05).Conclusion: Combination of calcitriol with angiotesin receptor blockers (ARBs) is moreeffective than ARBs alone in improvement of proteinuria and real function.

Background: Hearing loss is a common sensory impairment in humans which half of its causes are genetic reasons. Genetic hearing loss can be divided into the two types of syndromic and non-syndromic, which 80% of non-syndromic cases is Autosomal Recessive Non-Syndromic Hearing Loss. The aim of the present research is to determine the contribution of DFNB2 locus (MYO7A gene)in causing an autosomal recessive hearing loss in the one group of the deaf families of Khuzestan province.Materials and Methods: This study was conducted on 26 families with autosomal recessivehearing loss (with 4 patients) and negative for GJB2 mutations in Khuzestan province.22 families suffered from ARNSHL and 4 families suffered from Usher syndrome. Linkage analysis was performed by using STR (Short Tandem Repeat) markers related to DFNB2 locus. Each family’s genotype was determined by PCR-PAGE method. Furthermore, haplotypes drawing and LOD scorecalculations were performed.Results: From 26 families with hearing loss participating in this research, following geneticlinkage analysis and haplotypes drawing, two families (7.7% of the families) showed linkage toDFNB2 locus. One family (4.5%) suffered from ARNSHL and another family suffered from Ushersyndrome.Conclusion: The results of the present research show that the contribution of DFNB2 locus incausing hearing loss in the population of Khuzestan province was similar to other studies conducted in Iran and this locus with other important loci should be considered to check in the hearing loss panel.

Background: High intensity training can lead to lower the appetite. So, the purpose of thisstudy was to investigate the effect of folate supplementation on ghrelin level of stomach and insulinlevel of serum in male wistar rats during 10 weeks of high intensity interval training (HIIT).Materials and Methods: Twenty seven male Wistar rats (weight=203.94±27.34 gr, Age: 9weeks) after one week familiarization, were randomly divided into four groups: control (n=6), folatesupplementation (n=6), (HIIT) (n=7) and HIIT+folate supplement (n=8). HIIT training protocolstarted with 30 m/min running on treadmill for 1 min with 10 reps and 2 min active rest at the firstweek and reached to 75-80 m/min for 1 min with 7 reps and 3 min active rest at last 3 weeks. Acylatedghrelin level of stomach tissue and serum level of insulin were assayed by ELISA kit.Results: The results of Kruskal-vallis analysis showed that the ghrelin level of stomach wasincreased significantly (p=0.001) in folate+HIIT in compare with HIIT group. Also, insulin level ofserum was decreased significantly (p=0.001) in folate+HIIT in compare with control and HIIT groups.Conclusion: Based on our results, folate supplementation during high intensity intervaltraining, increased the ghrelin of stomach and decreased the insulin level of serum. So, it seems thatfolate supplementation can prevent from losing appetite in athletes who train with high intensitytraining with interval type.

Background: The speech disorders may produce irreparable damage to childs speech and language development in the psychosocial view. The voice, speech sound production and fluencydisorders are speech disorders, that may result from delay or impairment in speech motor control mechanism, central neuron system disorders, improper language stimulation or voice abuse.Materials and Methods: This study examined the prevalence of speech disorders in 1393Arakian students at 1 to 6th grades of primary school. After collecting continuous speech samples, picture description, passage reading and phonetic test, we recorded the pathological signs of stuttering, articulation disorder and voice disorders in a special sheet.Results: The prevalence of articulation, voice and stuttering disorders was 8%, 3.5% and%1and the prevalence of speech disorders was 11.9%. The prevalence of speech disorders was decreasing with increasing of student’s grade. 12.2% of boy students and 11.7% of girl students of primary schoolin Arak had speech disorders.Conclusion: The prevalence of speech disorders of primary school students in Arak is similar to the prevalence of speech disorders in Kermanshah, but the prevalence of speech disorders in this research is smaller than many similar researches in Iran. It seems that racial and cultural diversity hassome effect on increasing the prevalence of speech disorders in Arak city.