Complete Genotype and Clinical Phenotype of Hemophilia B: A Study on Iranian Patients

Background: Hemophilia B which refers to the deficiency or functional defect of factor IX (FIX) is typically an X-linked bleeding condition that arises from heterogeneous mutations of the FIX gene (F9). The number of hemophilia cases in Iran is considerable and currently, about 1118 Iranian patients are suffering from hemophilia B, although a small number of them underwent genetic investigations. Here we assessed molecular defects and also laboratory and clinical findings of 10 Iranian cases with hemophilia B. Materials and Methods: A total of 10 cases with hemophilia B were enrolled in the study. Patients were clinically examined by a hematologist and their previous medical documents were surveyed carefully. Routine coagulation tests and FIX activity and antigen assays were performed for the studied patients. Genotyping of F9 for identifying genetic mutations was conducted by the Sanger sequencing method following PCR amplification of the promoter region and all the eight exons of the F9 gene. Results: The mean age of patients was 4 years (9 months to 16 years) and consanguinity was reported in 80% of cases. Patients were commonly manifested by hematoma (90%), epistaxis (80%), and hemarthrosis (70%) and the severity of the disorder was severe (70%) or moderate (30%). In nine out of 10 patients a genetic defect in F9 gene we detected including three missense (c.304T>C, c.1007T>A, c.191G>A) and three nonsense mutations (c.892C>T, c.880C>T, c.1113C>A). Based on the FIX variant database (http://www.factorix.org), five mutations have been reported previously, but mutation c.1007T>A (p.Ile336Asn) seems to be a novel mutation. Conclusion: Our results indicated the heterogeneous molecular defects of hemophilia B in Iran, as recorded in the FIX mutation database. Moreover, no specific genotype-phenotype association was observed in studied subjects

Ameliorative effects of omega-lycotoxin-Gsp2671e purified from the spider venom of Lycosa praegrandis on memory deficits of glutamate-induced excitotoxicity rat model

Memory impairment is one of the main complications of Alzheimer’s disease (AD). This condition can be induced by hyper-stimulation of N-Methyl-D-aspartate receptors (NMDARs) of glutamate in the hippocampus, which ends up to pyramidal neurons determination. The release of neurotransmitters relies on voltage-gated calcium channels (VGCCs) such as P/Q-types. Omega-lycotoxin-Gsp2671e (OLG1e) is a P/Q-type VGCC modulator with high affinity and selectivity. This bio-active small protein was purified and identified from the Lycosa praegrandis venom. The effect of this state-dependent low molecular weight P/Q-type calcium modulator on rats was investigated via glutamate-induced excitotoxicity by N-Methyl-D-aspartate. Also, Electrophysiological amplitude of field excitatory postsynaptic potentials (fEPSPs) in the input–output and Long-term potentiation (LTP) curves were recorded in mossy fiber and the amount of synaptophysin (SYN), synaptosomal-associated protein, 25 kDa (SNAP-25), and synaptotagmin 1(SYT1) genes expression were measured using Real-time PCR technique for synaptic quantification. The outcomes of the current study suggest that OLG1e as a P/Q-type VGCC modulator has an ameliorative effect on excitotoxicity-induced memory defects and prevents the impairment of pyramidal neurons in the rat hippocampus

تحلیل دیدگاه مستشرقان دربارۀ آیۀ حجاب و ارتباط آن با سلامت روان

سابقه و هدف: حجاب ازجمله آموزه‌هاي ديني است که همواره برخی به تحلیل آن یا انتقاد از آن پرداخته‌اند. از جملۀ آنان برخی از مستشرقان هستند که گاه با نگاهی گزینشی و ناتمام به تاریخ و روایات، پیامبر (ص) را شخصی موافق با آزادی و اختلاط زنان و مردان دانسته‌اند که مجبور به پذیرش حکم حجاب و جداسازی زنان و مردان شده و با اهرم فشار و تهدید همسرانش به طلاق، آنان را نیز وادار به پذیرش حجاب و خانه‌نشینی نموده است. هدف از انجام این پژوهش تبیین و تحلیل آرای مستشرقان دربارۀ درک‌نکردن صحیح حکم آیۀ حجاب و ارتباط آن با سلامت روان بود. روش کار: این مقاله از نوع مروری است که در ابتدا به شیوۀ توصیفی آرای مستشرقانی همچون فاطمه مرنیسی، لیلا احمد و بارابارا استواسر که به بررسی علل حکم حجاب از منظر تاریخی پرداخته‌اند، تبیین شد و سپس با شیوۀ تحلیلی و با استناد به کتب تاریخی، تفسیری و روایی به نقد آرای آنان پرداخته شد. مؤلفان مقاله تضاد منافعی گزارش نکرده‌اند. یافته‌ها: حجاب فرمانی الهی است که به‌منظور تربیت و اصلاح رفتار مردم، به‌صورت تدریجی و گام‌به‌گام در جامعۀ آزاد و بدون قید آن عصر صادر شد و پیامبر (ص) بدون تأثیر از دیگران و اجبار آنان، توجه خاصی به اجرای احکام حجاب در جامعه داشتند. زنان عصر پیامبر (ص)، غالباً با پذیرش حجاب به‌عنوان حق خویش و عاملی برای حضور فعال و بدون آسیب اجتماعی نسبت به خود و مردان، بدون هیچ اهرم فشاری و حتی با انتخاب آزادانۀ رنگ مشکی برای پوشش خود به انگیزۀ داشتن ابهت و جلال بیشتر در دورباش منافقان، هرگز نگاهشان به حجاب محدودیت، عزلت، انزوا و تکلیفی مالایطاق نبود. نتیجه‌گیری: حجاب امری است که حفظ سلامت روان زنان و به‌تبع آن خانواده و جامعه را در پی دارد و این نگاهی است که شارع مقدس با جعل احکام پوشش برای همۀ اعصار، در پی تحقق آن بوده است؛ اما برخی از مستشرقان با پیش‌فرض منفی و بدون توجه به تأثیر حجاب در سلامت روان زنان و به‌تبع آن جامعه نگاهی مقطعی و موقتی بدان دارند و حجاب را نشانۀ عزلت، پرده‌نشینی و تحقیر زن می‌دانند

Quality of life in patients with Parkinson’s disease: Translation and psychometric evaluation of the Iranian version of PDQ-39

BACKGROUND: Health related quality of life is an important outcome measure in studies involving patients with chronic neurological conditions. Disease specific patient reported outcome measures (PROMs) are increasingly used as primary end points in clinical trials. The most widely used disease specific PROM is the 39 item Parkinson's Disease Questionnaire (PDQ-39). The aim of this study was to determine validity and reliability of Persian PDQ-39. METHODS: Two hundred Parkinson's disease patients attending neurologic clinics of teaching hospitals were recruited. PD patients completed a translated version of the PDQ-39. Internal consistency reliability of the questionnaire was assessed by Cronbach's alpha coefficient. Reproducibility was assessed across the 3-week interval using the intraclass correlation coefficient. To assess convergent validity, results on the PDQ-39 were correlated with those gained on the SF-36. Discriminate validity of questionnaire was assessed by comparing PDQ-39 scores and the severity and the duration of disease. RESULTS: A value of 0.93 (Cronbach's α) was gained for the summary score (PDQ-SI), indicating high levels of internal reliability. Alpha value of seven domains was greater than 0.70. The intraclass correlation coefficient ranged from 0.47 to 0.90. The range of correlation coefficients between domains of SF-36 and PDQ-SI was from -0.40 to -0.61. There was a statistically significant difference between severity of disease and mean scores of PDSI. CONCLUSIONS: This study provides evidence that the Persian version of PDQ-39 is a valid and reliable measure of quality of life in PD

Exploring Two Streptomyces Species to Control Rhizoctonia solani in Tomato

International audienceStreptomyces species are effective biocontrol agents toward many plant pathogens. These microorganisms are well known for producing secondary metabolites, promoting plant growth and inducing plant defense mechanisms. In this study, the ability of tomato root-colonizing Streptomyces strains to trigger the resistance against Rhizoctonia solani (J.G. Kühn) AG4 was investigated. For this goal, we evaluated the pattern of LOXB and PAL1 genes expression changes upon pathogen inoculation in primed tomato plants. The results revealed that Streptomyces globisporous (Krasil’nikov) strain F8 and S. praecox (Millard and Burr) strain R7 were able to enhance the expression of lipoxygenase and phenylalanine ammonia lyase in tomato plants. This finding suggests that Streptomyces strains F8 and R7 may trigger jasmonic acid and phenyl propanoid signaling pathways in plants, therefore, resulting an induced defense status in tomatoes against R. solani. Biochemical characterization of these Streptomyces strains showed that they were strong producers of siderophores. S. praecox strain R7 produced siderophores of hyderoxamate and catechol types and S. globisporous strain F8 produced a phenolic siderophore. Moreover, they also produced protease while only the S. praecox strain R7 was able to produce amylase. Taken together, these results indicate that S. globisporous strain F8 and S. praecox strain R7 promote plant growth and reduces disease and hence are suitable for future in depth and field studies with the aim to attain appropriate biocontrol agents to protect tomatoes against R. solani