Association of miR-146a and miR196a2 genotype with susceptibility to idiopathic recurrent pregnancy loss in Iranian women: A case-control study

Background: Recurrent pregnancy loss (RPL) is the most common complaint of pregnancy in females with a prevalence of 5%. Numerous documents have shown that single nucleotide polymorphisms are able to change miRNA transcription and/or maturation, which may alter the incidence of disorders such as RPL. Objective: To assess the relationship of miR-146aC > G (rs2910164) and miR-196a2T > C (rs11614913) with RPL susceptibility in Iranian women. Materials and Methods: Blood samples were collected from 214 women who had experienced at least two consecutive spontaneous miscarriages (case) and 147 normal individuals without a history of miscarriage (control). MiR-146aC > G and miR-196a2T > C genotypes were evaluated via the restriction fragment length polymorphism technique. Results: The genotypes incidence did not show a significant difference in pre-miR-146aC > G polymorphism CC vs CG + GG (p = 0.854; OR = 0.933; 95% CI) and CC + CG vs GG (p = 0.282; OR = 1.454; 95% CI). Also, no significant difference was observed between pre-miR-196a2T > C polymorphism TT vs TC + CC (p = 0.862; OR = 0.938; 95% CI) and TT + TC vs CC and (p = 0.291; OR = 1.462; 95% CI) in both the case and control groups. Conclusion: The results showed that although the distribution of miR-146aC > G and miR-196a2T > C was different between the unknown RPL and control groups, these variances were not statistically significant. Key words: RPL, miR-146a, miR196a2, Polymorphism, RFLP

Effect of Curcumin on Pediatric Intractable Epilepsy

ObjectivesEpilepsy is the most prevalent chronic neurologic disorder in children. One-third of patients with epilepsy do not respond to antiepileptic drugs. This condition is known as intractable epilepsy. Previous studies have shown the beneficial effects of curcumin in the treatment of epilepsy. There are no randomized controlled clinicaltrials assessing the use of curcumin in epilepsy. This study aimed to evaluate the effects of nanomicelle curcumin on intractable pediatric epilepsy. Materials & Methods This double-blinded randomized crossover clinical trial was performed by a consecutive sampling to select 22 patients with intractable epilepsy divided into two groups. Patients received a daily dose of 4 mg/kg of curcumin or placebo as add-on therapy for 4 weeks. After a 2-week washout period, the treatment was replaced, and the new treatment was given for another 4 weeks. The SPSS software version 16 was used for statistical analysis. The study was approved by the Ethics Committee of Mashhad University of Medical Sciences, Iran Results A total of 22 children were enrolled in this study, 11 of which were boys. The mean age of the patients was 4.28±5 years. A female patient taking a placebo was excluded in the first week of the trial due to parental dissatisfaction. The most common type of seizure among our patients was a generalized myoclonic seizure (42.9%). The mean number of seizure attacks among the subjects was 68.76±69.26 preintervention and 39.85±39.41at the end of the intervention, which represents a statistically significant difference (P=0.01). Conclusion Nanomicelle curcumin reduced the number of seizures significantly. Our results imply that curcumin treatment can help treat patients wit intractable pediatric epilepsy

Evaluation of CAG repeat length in the androgen receptor gene and polycystic ovary syndrome risk in Iranian women: A case-control study

Background: Polycystic ovary syndrome (PCOS) is a heterogeneous disorder, which affects about 15-20% of women of reproductive age. The most important etiopathogenesis factor in its incidence is hyperandrogenism; over 70 candidate genes are known to be associated with this syndrome, such as the androgen receptor (AR) gene which encodes a steroid receptor and is located on the Xq11-12 chromosome. The N-terminus of exon 1 of AR contains a polymorphic trinucleotide repeat (CAG)n region that encodes glutamine tract. There are some studies showing that shorter AR CAG repeats are significantly related to enhanced AR sensitivity. Objective: This study investigated the frequency of the polymorphic expansion of the trinucleotide CAG repeats of AR in PCOS. Materials and Methods: 160 Iranian women aged 17-40 yr participated in this casecontrol study: 80 women as PCOS patients and 80 women as healthy controls according to the Rotterdam criteria. Other similar phenotype factors such as hyperandrogenism were not considered as PCOS. The frequency of polymorphic expansion of CAG trinucleotide repeats in PCOS patients was compared with the frequency in non-PCOS controls in using two primer sets for nested polymerase chain reaction. The polymerase chain reaction products were visualized on polyacrylamide gel and then were confirmed by a sequencing process. Results: The results did not show a significant correlation between the frequency of CAG repeats in AR and PCOS incidence. Conclusion: In contrast to some previous reports, the present data showed that the CAG length in PCOS cases did not significantly differ from that of controls. So, the AR (CAG)n does not appear to be a major factor for PCOS in Iranian women. Key words: Androgen receptor, (CAG)n repeats, Polycystic ovary syndrome

Evaluation of the FAS and FASL Gene changes in women with premature ovarian failure: A case-control study

Background: Premature ovarian failure (POF), is menopause occurring before the age of 40, affecting 1-3% of women worldwide. The risk of POF increases with altered immunological parameters such as FAS and FASL genes, which play a fundamental role in embryogenesis and cellular homeostasis. Objective: The study aimed to investigate the potential role of FAS and FASL genes in POF pathogenesis. Materials and Methods: In this case-control study, the polymorphisms of FAS-670A/G and FASLIVS2nt_124A/G apoptotic genes were analyzed in 51 Iranian women suffering from POF, and 61 healthy controls. Isolation of DNA was done using the salting-out method, and genotypic analysis was performed for all the subjects using the polymerase chain reaction-restriction fragment length polymorphism method. Results: Our results revealed that homozygous FAS-670A/A and G/G, and heterozygous FAS-670A/G are not significantly different between cases and controls (p = 0.99). Also, in different genotyping models of FASIVS2nt_124, polymorphisms were not related to POF risk (p = 0.23). Conclusion: There is no statistical association between these polymorphisms and POF risk in women referred to genetic counseling clinics. Key words: FAS, FASL, Polymorphism, Premature ovarian failure

Lunapark deficiency leads to an autosomal recessive neurodevelopmental phenotype with a degenerative course, epilepsy and distinct brain anomalies

LNPK encodes a conserved membrane protein that stabilizes the junctions of the tubular endoplasmic reticulum network playing crucial roles in diverse biological functions. Recently, homozygous variants in LNPK were shown to cause a neurodevelopmental disorder (OMIM#618090) in four patients displaying developmental delay, epilepsy and nonspecific brain malformations including corpus callosum hypoplasia and variable impairment of cerebellum. We sought to delineate the molecular and phenotypic spectrum of LNPK-related disorder. Exome or genome sequencing was carried out in 11 families. Thorough clinical and neuroradiological evaluation was performed for all the affected individuals, including review of previously reported patients. We identified 12 distinct homozygous loss-of-function variants in 16 individuals presenting with moderate to profound developmental delay, cognitive impairment, regression, refractory epilepsy and a recognizable neuroimaging pattern consisting of corpus callosum hypoplasia and signal alterations of the forceps minor ('ear-of-the-lynx' sign), variably associated with substantia nigra signal alterations, mild brain atrophy, short midbrain and cerebellar hypoplasia/atrophy. In summary, we define the core phenotype of LNPK-related disorder and expand the list of neurological disorders presenting with the 'ear-of-the-lynx' sign suggesting a possible common underlying mechanism related to endoplasmic reticulum-phagy dysfunction

Factors Related to Patient Migration in Kerman Province

Background: Awareness toward peoples’ utilization of health care facilities is a very important issue in the programming and resource allocation process. With implementation of family physician project in Iran and attempts for reforming health referral system, patients’ mobility between regions and its related factors have found more importance. Methods: In this research by using the logit economic model and through retrospective design, the relationship of patient migration with patients’ demographic features, type of health insurance, distance from the health care center and hospitals’ features was determined in 21 disease groups, based on the final diagnosis recorded in patients’ medical files and ICD10 codes. Eviews 6 software was used for all estimations. Results: About 40 percent of inpatients in Kerman hospitals had migrated from other cities where the same services had been available, but the patients were not satisfied of the quality of them. Negative effects of geographical distance, physician and hospital bed count and the positive effect of insurances were constant in all groups, showing similar effects of these variables on patient migration in all disease groups. Conclusion: Results show that factors like distance and kind of disease have no more effect on patient migration than patient perception of the health care center; and ignoring this item, especially in planning the referral system in the big project of family physician, can result in problems in relation to patient equity, patient satisfaction and health organizations’ financial support. Keywords: Patient migration, Logit model, Kerman Provinc

Genetic relationships of wild boars highlight the importance of Southern Iran in forming a comprehensive picture of the species' phylogeography

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Detection of 4977-bp deletion of mitochondrial DNA in in vitro fertilization failure women: A case-control study

Background: The quality of oocyte is often considered as a limiting factor for fertility, especially IVF. Some mitochondrial mutations, particularly the 4977-bp deletion increase with the age. Thus, this mutation can serve as a marker for cell aging, which indicates the reduced quality of the oocytes for fertilization. It has been suggested that this can also be investigated in the blood cells of women with IVF failure. Objective: 1-Determination of the frequency of 4977-bp deletion in women with IVF failure, 2-Investigation of the relationship between 4977-bp deletion and the age of patients. Materials and Methods: Polymerase chain reaction was used to detect the 4977-bp deletion in blood samples of 52 IVF failure women and 52 women who had at least one healthy child. After polymerase chain reaction with deleted and wild-type primers, the products were examined using agarose gel electrophoresis. Results: 48.07% of women with IVF failure and 34.62% of healthy women had a mitochondrial 4977-bp deletion, with p=0.163 and OR: 1.749. Also, in association with the age of these patients and the frequency of 4977-bp mutation, p and OR were obtained 0.163 and 1.749, respectively and frequency of this mutation was higher in patients over 35 yr old compared to other subgroups (Patients ≥35: 57.69). Conclusion: According to the findings of this study, there is no a significant relationship between the frequency of mitochondrial 4977-bp mutation and failure in IVF

Frequency of TNFR1 36 A/G gene polymorphism in azoospermic infertile men: A case-control study

Background: Tumor necrosis factor-alpha (TNF-&alpha;) is a multifunctional cytokine that regulates different cellular activities related to spermatogenesis. Tumor necrosis factor-alpha receptor 1 (TNFR1) mediates TNF-&alpha; activity and polymorphism in TNFR1 could lead to gene dysfunction and male infertility. Objective: The aim of this study is to determine the association of TNFR1 36 A/G polymorphism with the idiopathic azoospermia in Iranian population. Materials and Methods: This case-control study included 108 azoospermic and 119 fertile men. This research investigated the frequency of TNFR1 36 A/G polymorphism in cases who were idiopathic azoospermic men referred to Yazd Research and Clinical Center for Infertility, Iran in comparison with controls. polymerase chain reaction- restriction fragment length polymorphism (PCR-RFLP) method was used to investigate the polymorphism in both case and control groups. PCR fragments were digested by Mspa1I enzyme and products were appeared by gel electrophoresis. The abundance of A&rarr;G was calculated in the azoospermic and healthy men. Results: According to the present study, GG and AG genotypes frequency in the azoospermic men group were higher than the control group (OR= 2.298 (1.248-4.229), p=0.007), (OR=1.47 (0.869-2.498, p=0.149). Our findings also showed that G allele frequency in azoospermic men had significant difference compared to the control group (OR=2.302 (1.580-3.355), p<0.001). Conclusion: It seems that the GG genotype and G allele have an association with increased risk of non-obstructive azoospermi

The interaction between the dietary phytochemical index and CD36 rs1761667 polymorphism on the risk factors related to metabolic syndrome

Introduction: The aim of the study was to assess the interaction between CD36 rs1761667 and dietary phytochemical index (DPI) on the risk factors related to MetS among apparently healthy adults. Methods: This cross-sectional study was conducted on 387 apparently healthy adults (20–70 years) of the recruitment phase of Yazd Health Study (YaHS). DPI was calculated using data from a validated, and reliable food frequency questionnaire. Genotyping of rs1761667 was performed by polymerase chain reaction-restriction fragment length polymorphism method. All participants were categorized into two categories, based on DPI scores. The interactions were tested using logistic regression in adjusted and unadjusted models. Results: There was no significant association between CD36 gene polymorphism rs1761667 and metabolic syndrome components as well as DPI score was not associated with the components of MetS. Significant interactions were observed between DPI and rs1761667 polymorphism on the odds of metabolic syndrome (P = 0.05) and odds of abdominal obesity (P = 0.01), so that, higher adherence to this index was associated with a low risk of MetS and abdominal obesity in individuals with AG genotype. In contrast, increased adherence to the DPI was associated with higher odds of abdominal obesity among the AA genotype. Conclusion: The AG genotype appears to be a protective factor against the risk of MetS and abdominal obesity with greater adherence to DPI. However, additional research is needed to elucidate these interactions and the mechanisms behind these associations