Correlation of endothelial nitric oxide synthase gene polymorphism (GG, TT and GT genotype) with proteinuria and retinopathy in type 2 diabetic patients

Background: Nephropathy is the most important leading cause of end stage renal failure in type 2 diabetic patients, so numerous studies were done to diagnose and evaluate risk factors of diabetic nephropathy (DN). Some gene polymorphisms may be associated with progression or regression of DN, so the aim of this study was to compare prevalence of eNOS gene polymorphism in diabetic patients with controls and its association with diabetic nephropathy. Materials and Methods: In a cross-sectional study, 94 type 2 diabetic patients and 94 normal participants were enrolled. Patients without retinopathy were excluded from this study. For all of the patients, fasting blood sugar (FBS), 2 hours post-prandial (BS), Blood Urea Nitrogen (BUN), Creatinine (Cr), 24 hours urine protein were measured in the case group. Endothelial nitric oxide synthetase gene polymorphism was evaluated in the case and control groups. Results: There was no significant difference based on age and sex between patients in case and control groups. GG genotype of eNOS was less common in the patient group compared to control group. There was no difference between prevalence of TT, GT or GG genotype based on age and sex. There was no correlation between diabetic retinopathy or proteinuria and genotypes of eNOs. Conclusion: The study showed that in type 2 diabetic patients, NOS gene polymorphism was more common compared to normal population; however, there is no correlation between this gene polymorphism and proteinuria or retinopathy in these patients

Determining the frequency of glucose-6-phosphate dehydrogenase deficiency in newborn infants in Shahrekord

زمینه و هدف: گلوکز -6- فسفات دهیدروژناز (G6PD) اولین آنزیم در مسیر متابولیسم پنتوز فسفات می باشد. این مسیر در از بین بردن متابولیت های اکسیدان در بدن نقش موثری را ایفا می کند. کمبود این آنزیم باعث کاهش احیاء انرژی گلبول های قرمز و همولیز می‌گردد. در این مطالعه استفاده از روش غربالگری جهت تعیین میزان فراوانی کمبود آنزیم G6PD در نوزادان تازه متولد شده مورد بررسی قرار گرفت. روش بررسی: در این مطالعه توصیفی- مقطعی از بند ناف 1240 نوزاد تازه به دنیا آمده نمونه سرم تهیه شد و با استفاده از روش فلورسانس لکه ای میزان فعالیت آنزیم G6PD تعیین گردید. اطلاعات دموگرافیک شامل محل زندگی، جنس، سابقه کمبود G6PDدر خانواده و بستری به علت زردی تکمیل شد. داده ها با استفاده از نرم افزار آماری SPSS و آزمون آماری کای دو مورد تجزیه و تحلیل قرار گرفت. یافته ها: از کل 1240 نمونه مورد بررسی 29 نفر (3/2) دچار کمبود G6PDبودند، از بین افراد مبتلا، 3 نفر (3/10) از آنها کمبود شدید آنزیم G6PD و 26 نفر (7/89) کمبود خفیف تا متوسط داشتند. بین متغیرهای مورد بررسی و کمبود آنزیم، فقط موارد بستری به علت زردی ارتباط معنی داری با کمبود آنزیم داشت (001/0>P). نتیجه گیری: با توجه به درصد بالای بستری شدن نوزادان مبتلا به کمبودG6PD و خطراتی که این بیماری همولیتیک می تواند در آینده برای بیماران ایجاد کند و نظر به ارزان بودن تست فلورسنت لکه ای، می توان از این تست جهت غربالگری نوزادان تازه متولد شده استفاده کرد

Hormone Receptor Status in Breast Cancer and its Relation to Age and Other Prognostic Factors

Background Increasing evidence shows the importance of young age, estrogen receptor (ER), progesterone receptor (PR) status, and HER-2 expression in patients with breast cancers. Patients and methods We organized an analytic cross-sectional study of 105 women diagnosed with breast cancer who have been operated on between 2008 to 2010. We evaluated age, size, hormone receptor status, HER-2 and P53 expression as possible indicator of lymph node involvement. Results There is a direct correlation between positive progesterone receptor status and being younger than 40 ( P < 0.05). Also, compared with older women, young women had tumors that were more likely to be large in size and have higher stages ( P < 0.05). Furthermore patients with negative progesterone receptor status were more likely to have HER-2 overexpression ( P < 0.05). The differences in propensity to lymph node metastasis between hormone receptor statuses were not statically significant. Conclusions Although negative progesterone receptor tumors were more likely to have HER-2 overexpression, it is possible that higher stage and larger size breast cancer in younger women is related to positive progesterone receptor status

Progesterone exerts antidepressant-like effect in a mouse model of maternal separation stress through mitigation of neuroinflammatory response and oxidative stress

Context: Experiencing early-life adversity plays a key role in the development of mood disorders in adulthood. Experiencing adversities during early life period negatively affects brain development. Sex steroids such as progesterone affect the brain structure and functions and subsequently affects behaviour. Objective: We assess the antidepressant-like effect of progesterone in a mouse model of maternal separation (MS) stress, focussing on its anti-neuroinflammatory and antioxidative effects. Materials and methods: NMRI mice were treated with progesterone (10, 50, and 100 mg/kg, i.p., respectively) for 14 days. Valid behavioural tests including forced swimming test (FST), splash test and open field test (OFT) were used. Quantitative reverse transcription-PCR (qRT-PCR) was used for evaluation of genetic expression in the hippocampus. Antioxidant capacity was assessed by the FRAP method and the level of malondialdehide by TBA. Results: MS provoked depressive-like behaviour in mice. Treatment of MS mice with progesterone increased the grooming activity time in the splash test and decreased the immobility time in the FST. In addition, progesterone decreased the expression of inflammatory genes related to neuroinflammation (IL-1 beta, TNF-alpha, TLR4 and NLRP3) as well as increased the antioxidant capacity and decreased the lipid peroxidation (MDA) in the hippocampus. Discussion and Conclusion: Administration of progesterone significantly mitigated the negative effects of MS on behaviours relevant to depressive-like behaviour as well as attenuated neuro-immune response and oxidative stress in the hippocampus of MS mice. In this context, we conclude that progesterone, at least partially, via attenuation of oxidative stress and neuroinflammation, exerts antidepressant-like effects

Studying gap junction beta 2-related deafness in Iranian population

Hearing loss is the most common sensory disorder in humans, from every 1000 births, 1 is affected by severe to profound deafness. Many genes are involved in deafness that GJB2 gene is one of the most important ones and encodes the connexin 26 proteins. A mutation called delG35 composes most of mutated alleles of connexin 26 and is also the most common cause of congenital sporadic and hereditary deafness. Open Access Journals (DOAJ), Google Scholar, PubMed (NLM), LISTA (EBSCO), and Web of Science have been searched for literature. GJB2 gene mutations play the most significant role in non-syndromic deafness in Iran. 35delG mutation has a high frequency in most parts of Iran, especially in the North and North-West and is also the most common mutation in GJB2 deaf population of Iran. GJB2 gene mutations in Iran play less important roles compared with other countries in causing deafness; however, so far, it has been introduced as the gene that plays the most significant role in causing deafness gene in Iran. It seems that many other genes and loci play roles in causing deafness in Iran that requires more studies to be conducted. (Cite this article as: Mehri-Ghahfarrokhi A, Hashemzadeh-Chaleshtori M, Shojaeian A, Mahmoudian-Sani MR. Studying gap junction beta 2-related deafness in Iranian population. Otorinolaringol 2017;67:89-95. DOI: 10.23736/S0392-6621.17.02115-4

Study of VSX1 Mutations in Patients with Keratoconus in Southwest Iran Using PCR-Single-Strand Conformation Polymorphism/Heteroduplex Analysis and Sequencing Method

Objective: Keratoconus (KC) is an eye disorder in which the cornea is swollen, thinned and deformed. Despite extensive studies, the pathophysiological processes and genetic etiology of KC are unknown. The disease incidence is approximately 1 in 2,000, and it is the most common cause of corneal transplantation in the USA. Many genes are involved in the disease, but evidence suggests a major role for VSX1 in the etiology of KC. This study aimed to determine the frequency of mutations in exons 2, 3 and 4 of the VSX1 gene in Chaharmahal va Bakhtiari province in the southwest of Iran. Study Design: In this experimental study, mutations in 3 exons, namely exons 2,3 and 4, of VSX1 were investigated in 50 patients with KC and 50 healthy control subjects. DNA was extracted using a standard phenol-chloroform method. PCR-single-strand conformational polymorphism/heteroduplex analysis was performed, followed by DNA sequencing to confirm the identified motility shifts. Results: H244R mutations were found in 1 patient and also in 1 healthy control subject. Furthermore, 12 polymorphisms were identified in patients with KC and 7 in healthy control subjects rs6138482 and c.546A>G (rs12480307)]. Conclusion: Our investigation showed that KC-related VSX1 mutations were found in a very small proportion of the studied patients from Iran. Further investigations on other genes are needed to clarify their roles in KC pathogenesis. (C) 2013 S. Karger AG, Base

Studying VSX1 gene mutations in patients with Keratoconus of Chaharmahal and Bakhtiari province, Iran

Background & Aims: Keratoconus (KC) is an eye disorder in which the cornea is swollen, thinned and deformed. Despite extensive studies, the pathophysiological processes and genetic etiology of KC is unknown. The disease incidence is approximately 1 in 2000 and is the most common cause of corneal transplantation in the US. Many genes are involved in the disease, but evidence suggests a major role for VSX1 in the etiology of KC. This study aimed to determine the frequency of mutations in exons 2, 4 of the VSX1 gene in Chaharmahal and Bakhtiari province, Iran. Methods: In this experimental study, mutations in two exons including exons 2 and 4 of VSX1 were investigated in 50 patients with KC. DNA was extracted using a standard phenol-chloroform method. PCRSSCP/ HA was performed, followed by DNA sequencing to confirm the identified motility shift. Results: H244R mutation was identified in exon 4 of only one patient. Conclusion: Our investigation showed that the KC-related VSX1 mutations are found in very small samples in the study subjects from Iran. Further investigations on other genes are needed to clarify their roles in KC pathogenesis

Clinical Study Endovascular Treatment of Intracranial Artery Dissection: Clinical and Angiographic Follow-Up

Background. Intracranial artery dissections are rare and many controversies exist about treatment options. The aim of this study was to evaluate the efficacy and safety of the endovascular approach in patients with an intracranial dissection presenting with different symptoms. Methods. We prospectively evaluated the clinical features and treatment outcomes of 30 patients who had angiographically confirmed nontraumatic intracranial dissections over 4 years. Patients were followed up for 17 months, and their final outcomes were assessed by the modified Rankin Score (mRS) and angiography. Results. Sixteen (53.3%) patients had a dissection of the anterior circulation, whereas 14 (46.7%) had a posterior circulation dissection. Overall, 83.3% of the patients suffered a subarachnoid hemorrhage (SAH). Grade IV Hunt and Hess score was seen in 32% of the SAH presenting cases. Parent artery occlusion (PAO) with coil embolization was used in 70% of the cases. The prevalence of overall procedural complications was 23.3%, and all were completely resolved at the end of follow-up. No evidence of in-stent occlusion/stenosis or rebleeding was observed in our cases during follow-up. Angiography results improved more frequently in the PAO with coil embolization group (100%) than in the stent-only-treated group (88.9%) ( = 0.310) and the unruptured dissection group (5/5, 100%) in comparison with the group that presented with SAH (95.8%) ( = 0.833). Conclusion. Favorable outcomes were achieved following an endovascular approach for symptomatic ruptured or unruptured dissecting aneurysms. However, the long-term efficacy and durability of these procedures remain to be determined in a larger series