Hereditary ataxia with a novel mutation in the Senataxin gene: A case report

Hereditary ataxias (HA) are a group of inherited neurological disorders caused by changes in genes. At least 115 different mutations in the senataxin (SETX) gene causing ataxia have been identified. There are no reports of any SETX gene mutation among the Iranian population. Here we report on two cases with homozygous and heterozygous mutations in which one patient was affected by HA with oculomotor apraxia type 2, and the other was a carrier of the disorder. In 2016, the affected patient was referred to the Biogene Medical and Genetic Laboratory (Tehran, Iran) suffering from imbalance and tremor of both head and body. The coding regions of 18 genes, including the SETX gene, were screened. The target regions were captured using the NimbleGen chip followed by next-generation sequencing (NGS) technology on the Illumina Hiseq2500 platform. NGS, a DNA sequencing technology, has greatly increased the ability to identify new causes of ataxia; a useful tool for the prevention of primary manifestations and treatment of affected patients. In the present study, a novel mutation in the SETX gene has been identified. © 2019, Shiraz University of Medical Sciences. All rights reserved

The Effects of Vitamin E on Liver and Kidney Damage Induced by Dianabol in Small Laboratory Mice

BACKGROUND AND OBJECTIVE: Anabolic steroids, especially dianabol, are used by athletes as a performance-enhancing drugs that damage the liver and cause structural changes. The aim of this study was to evaluate the effects of vitamin E on liver and kidney toxicity caused by dianabol. METHODS: In this experimental study, 72 adult male mice were randomly divided into 8 groups of 9. Four groups of mice received 100 IU / kg vitamin E orally for 42 days through gavage. Three groups of the above groups received 5, 10 and 20 mg / kg oral dianabol four hours after receiving vitamin E, respectively. The control group and the groups receiving only 5, 10 and 20 mg / kg oral dianabol were also considered. 24 hours after the final treatment, serum samples were collected for biochemical evaluations and tissue samples were collected for histological, histomorphometric and histochemical evaluations. FINDINGS: The results showed that dianabol significantly increased the level of AST (158.52±9.76), ALT (113.70±11.02), and ALP (141.30±5.94), and significantly decreased albumin (1.04±0.47) compared to the control group (72.61±7.54, 41.47±7.03, 112.80±4.30, 3.14±0.25, respectively) (p<0.05). Administration of vitamin E significantly increased the level of AST (110.56±9.86), ALT (80.19±4.02) and ALP (120.52±4.94) and improved albumin (2.1±0.28) (p<0.05). CONCLUSION: The results of the study showed that vitamin E can reduce the oxidative damage caused by dianabol in the liver and kidney of the mouse

Health-promoting behaviors and social support of women of reproductive age, and strategies for advancing their health: Protocol for a mixed methods study

<p>Abstract</p> <p>Background</p> <p>Determining the health-promoting behaviors of women during the important period of reproduction provides valuable information for designing appropriate intervention programs for advancing women's health. There is no study on the health-promoting behaviors of women of reproductive age in Iran. Thus, the aim of this study is to explore these health-promoting behaviors for the purpose of developing comprehensive and culturally sensitive health advancement strategies for Iranian women.</p> <p>Methods/Design</p> <p>This study has a sequential explanatory mixed methods design. The follow-up explanation model is used to elaborate the quantitative results by collecting qualitative data from participants who could best assist in elucidating the results. The study is conducted in two sequential phases. The first phase is a population-based cross-sectional survey in which 1350 Iranian women of reproductive age are selected by proportional random multistage cluster sampling of the 22 main municipal sectors of Tehran, Iran. Questionnaires are completed through a face-to-face interview. The second phase is a qualitative study in which participants are selected using purposive sampling in the form of extreme case sampling on the basis of health-promoting behavior scores. The qualitative phase is based on data collected from focus group discussions or individual in-depth interviews. A conventional qualitative content analysis approach is used, and the data are managed with a computer-assisted program. Women's health-promoting strategies are developed using the qualitative and quantitative results, a review of the related literature, and the nominal group technique among experts.</p> <p>Discussion</p> <p>The findings of this mixed methods sequential explanatory study, obtained using a culturally sensitive approach, provide insights into the health behavioral factors that need to be considered if preventive strategies and intervention programs are to be designed to promote women's health in the community.</p

A novel frameshift mutation in the EDA gene in an Iranian patient affected by X-linked hypohidrotic ectodermal dysplasia

Purpose: Ectodermal dysplasias are characterized by developmental abnormalities in ectodermal structures. Hypohidrotic ectodermal dysplasias (HED) are the most common subtype. They are most commonly inherited via X-linked recessive routes. We report on a novel ectodysplasin-A (EDA) mutation that is expected to be involved in pathogenesis of HED. Methods: Hypohidrotic ectodermal dysplasia genes, including EDA, EDAR and EDARADD, were analyzed using next-generation sequencing (NGS). The detected mutation on the EDA gene was confirmed in the patient and his mother using Sanger sequencing. Results: The patient presented with adontia, absence of gum development, hyperthermia and hypohidrosis. Our genetic analysis of the patient revealed a novel frameshift hemizygous mutation (c.898-924 + 8del35ins4CTTA) on the EDA gene. The patient's mother showed a mild HED phenotype. Direct sequencing of the EDA gene in the region where her son had the mutation showed the same mutation in a heterozygous state. Conclusion: We identified a novel frameshift mutation in the EDA gene in an Iranian patient affected by X-linked HED. The difference between our patient's symptoms and those recorded for some previous subjects may be due to the differences in the mutations involved. © 2019 The Author(s)

Association between polymorphism at 3 ׳UTR of urokinase gene and risk of calcium

Background: Kidney stone is a common multifactorial disease in Iran. Environmental and genetic factors including single nucleotide polymorphism (SNP) affect the incidence of kidney stones. Objective: The aim of this study was to determine the association of +4065 T/C polymorphism at 3′untranslated region (3'UTR) of urokinase gene and calcium kidney stones. Methods: This case-control study was conducted on 70 patients with history of calcium kidney stones as case group and 70 healthy subjects as control group in the Baqiyatallah hospital in 2013. The polymorphism was assessed using the Allele Specific PCR (AS-PCR) method. Allele and genotype frequencies of the two groups were compared using 2x2 contingency tables. Hardy-Weinberg equilibrium was compared between the two groups using Chi-square test. Findings: Of 70 cases, 10 (15%) were heterozygous and 24 (34%) were homozygous for the polymorphism. Of 70 controls, 25 (35%) were heterozygous for the polymorphism. The frequency of mutant T allele was 41% in the case group and 18% in the control group. The frequency of mutant C allele was 59% in the case group and 82% in the control group. The risk of calcium kidney stones in carriers of the mutant allele was 1.7 times higher than non-carriers (OR: 1.7). Conclusion: With regards to the results, it seems that there is a significant association between the polymorphism at 3 ׳UTR of urokinase gene and formation of calcium kidney stones. Urokinase gene polymorphism may be introduced as a candidate gene involved in calcium stone formation

Pharmacological, histopathological, and biochemical assessments of cutaneous wound healing potential of Tragopogon graminifolius aqueous extract ointment in rats

The recent experiments have revealed the property of ethno-medicinal plants on the treatment of the cutaneous wound. The purpose of the experiment was to investigate the wound healing potential of Tragopogon graminifolius aqueous extract ointment. DPPH free radical scavenging test was carried out to examine the antioxidant effect of T. graminifolius aqueous extract, which indicated similar antioxidant activity with butylated hydroxy toluene (BHT) as a positive control. In vivo design, 120 Sprague Dawley male rats were used. After creating the cutaneous wound, the animals were randomly divided into four groups; untreated control, treatment with Eucerin ointment, treatment with 3 tetracycline ointment, and treatment with 3 T. graminifolius aqueous extract ointment (3 g of T. graminifolius aqueous extract + 97 g base ointment). On days 10, 20, and 30 after creating the wound, for histopathological and biochemical analysis of the cutaneous wound healing trend, a section was prepared from all dermal thicknesses. The data were analyzed using one-way ANOVA followed by Duncan post hoc test. On days 10, 20, and 30, T. graminifolius aqueous extract ointment could significantly (p ≤ 0.05) decrease the level of the wound area, total cell, macrophage, lymphocyte, and neutrophil, and enhance the level of wound contracture, fibrocyte, hexuronic acid, hexosamine, and hydroxyproline as compared to the basal ointment and control groups. In conclusion, the acquired findings showed the cutaneous wound healing potential of T. graminifolius aqueous extract ointment. © 2019, Springer-Verlag London Ltd., part of Springer Nature

Experimental study on Wistar rats: the Allium eriophyllum Boiss aqueous extract ointment effectively treat induced cutaneous wound

Cutaneous wound healing by medicinal plants which have fewer side effects than chemical drugs have been on the increase. In our study, we evaluated cutaneous wound healing potential of Allium eriophyllum Boiss aqueous extract ointment in rats. In in vivo design, after creating the cutaneous wound on the back of the rats, the animals were randomly divided into four groups: untreated control, treatment with Eucerin ointment, treatment with 3 tetracycline ointment, treatment with 3 A. eriophyllum aqueous extract ointment. The groups were treated for 30 days. For biochemical and histopathological analysis of the cutaneous wound healing trend, a 3 × 3 cm section was prepared from all dermal thicknesses on days 10, 20, and 30. The data were analyzed by SPSS 21 software. The use of A. eriophyllum aqueous extract ointment in the treatment groups led to remarkable reduce (p < 0.05) in the levels of wound area, total cells, neutrophil, lymphocyte, and macrophage, and remarkable increase (p < 0.05) in the levels of wound contracture, hydroxyl proline, hexosamine, hexuronic acid, fibrocyte, and the rate of fibrocyte to fibroblast as compared to the control and basal ointment groups. According to the findings, A. eriophyllum aqueous extract ointment can cure the cutaneous wound. © 2019, Springer-Verlag London Ltd., part of Springer Nature