GJB2 mutations: passage through Iran

Hereditary hearing loss (HHL) is a very common disorder. When inherited in an autosomal recessive manner, it typically presents as an isolated finding. Interestingly and unexpectedly, in spite of extreme heterogeneity, mutations in one gene, GJB2, are the most common cause of congenital severe-to-profound deafness in many different populations. In this study, we assessed the contributions made by GJB2 mutations and chromosome 13 g.1777179_2085947del (the deletion more commonly known as del (GJB6-D13S1830) that includes a portion of GJB6 and is hereafter called Delta(GJB6-D13S1830)) to the autosomal recessive non-syndromic deafness (ARNSD) genetic load in Iran. Probands from 664 different nuclear families were investigated. GJB2-related deafness was found in 111 families (16.7%). The carrier frequency of the 35delG mutation showed a geographic variation that is supported by studies in neighboring countries. Delta(GJB6-D13S1830) was not found. Our prevalence data for GJB2-related deafness reveal a geographic pattern that mirrors the south-to-north European gradient and supports a founder effect in southeastern Europe.     

The effect of vitamin E on sperm motility and viability in asthenoteratozoospermic men: In vitro study

Induction of oxidative stress during the sperm preparation process for assisted reproductive techniques (ART) in men can weaken sperm parameters. Vitamin E (VE) is considered a factor in boosting male fertility. This experimental study (in vitro) aimed to assess the impact of VE supplementation on sperm quality and lipid peroxidation during sperm sampling at different times. For this mention, semen samples were collected from 50 asthenoteratozoospermic men. Samples were divided into control and test groups for 2, 4 and 6 hr that the test group was incubated with VE (2 mM). In two groups, total motility, progressive motility and viability based on the WHO 2010 criteria were assessed. Moreover, malondialdehyde (MDA) levels were evaluated in each group. In the control group, total and progressive motility and sperm viability were decreased significantly after 2 hr; however, MDA levels were increased significantly after 6 hr. Also, in the test group, sperm parameters were increased significantly after 2 hr, and MDA levels were decreased significantly after 6 hr compared to the control group. In outcome, in vitro VE supplementation may protect spermatozoa from the adverse effect of oxidative stress during sperm preparation via preservation antioxidant processes in normal condition.     

The role of peer support education model on the quality of life and self-care behaviors of patients with myocardial infarction

ObjectiveThis study aimed to assess the effect of peer education on the quality of life and self-care behaviors of patients with myocardial infarction.MethodsIn this clinical trial, 70 patients with myocardial infarction meeting the inclusion criteria were assigned to experimental (n = 35) or control (n = 35) groups using block randomization. Patients in the intervention group received two one-hour training sessions on the third day after myocardial infarction during the CCU stay along with routine care. Education intervention was performed by peers. The control group will follow routine care. All patients selected were assessed using McNews' quality of life questionnaire and Miller self-care questionnaire, respectively before the intervention and also one month after discharge. Chi-square and t-test were used to analyze the data.ResultsAfter the intervention, the mean of quality of life and the mean score of self-care behaviors in the experimental group were significantly higher compared to the control group.ConclusionsAccording to the results, to improve the quality of life and promote the self-care behaviors in such patients, using peer education along with healthcare professionals is recommended.Practice ImplicationThis patient education approach had a significant impact on quality of life and self-care behavior.     

Changes in miRNA expression in sera and correlation to duration of disease in patients with multifocal mucosal lichen planus

J Oral Pathol Med (2012) 41 : 86–89 Background: Mucosal lichen planus is a severe variant of lichen planus, Lichen planus (LP), which in many ways affect patients’ lives. The aetiology is not fully understood, and there is no treatment clearing the disease once and for all. Oral LP has by the WHO been classified as a precancerous lesion. Micro‐RNAs, miRNAs, are non‐coding, small single‐stranded RNAs involved in biological processes like apoptosis, proliferation, differentiation, metastasis, angiogenesis and immune response. Methods and Results: In sera from 30 patients with multifocal mucosal LP, 15 miRNAs were identified as significantly differentially expressed compared with controls. The three most up‐regulated miRNAs are all connected to oral squamous cell carcinoma or epithelial carcinoma in general. Discussion: Even if no specific LP‐associated miRNA profile was found, data clearly indicate that miRNAs could play a role in the earlier phases of lichen planus.     

SB‐334867, an orexin receptor 1 antagonist,decreased seizure and anxiety in pentylenetetrazol‐kindled rats

Convulsive seizures are due to abnormal synchronous and repetitive neuronal discharges in the central nervous system (CNS). Finding new therapeutics to overcome the side effects of the current drug therapies and to increase their effectiveness is ongoing. Orexin‐A and orexin‐B are brain neuropeptides originating from postero‐lateral hypothalamic neurons. Studies show that orexins, through activation of OX1 and OX2 receptors, have excitatory effects in the CNS. Accordingly, this study was designed to evaluate the effect of OX1 receptor antagonist (SB‐334867) on seizure‐ and anxiety‐related behaviors of pentylenetetrazol (PTZ)‐kindled rats. Kindling was induced by repeated intraperitoneal (IP) injections of PTZ (32 mg/kg) with two‐day intervals for 24 days in male Wistar rats. Three groups received intracerebroventricular (ICV) injections of SB‐334867 (2.5, 5, and 10 μg/rat) before PTZ injections. Two control groups received vehicle (2 μL/rat, ICV) and valproate (26 μg/rat, ICV) before PTZ injections. An extra group of control animals received saline both ICV and IP. Seizure‐related behaviors were monitored for 30 min following PTZ administration. The anxiety‐like behaviors were also assessed using elevated plus‐maze in the first and last days of the study. The results revealed that ICV injection of SB‐334867, mainly at the dose of 10 μg/rat, decreased the median of seizure stages, prolonged the latency and reduced the duration of different seizure stages, and reversed the PTZ‐induced anxiety‐like behaviors. Based on the presented results, it is suggested that pharmacological blockade of the OX1 receptor is a potential target in the treatment of seizure and concomitant anxiety disorders.     

Aflatoxin B1 effects on ovarian follicular growth and atresia in the rat

For this investigation, 28 female healthy adult Wistar rats were selected. The animals were divided into four groups (n?=?7 per group): control, test group 1, test group 2 and test group 3. Each rat in test groups 1, 2 and 3, received 0.8 ppm, 1.6 ppm and 3.2 ppm aflatoxin B1 (AFB1), respectively, via gavage for a period of 25 days. The control group received distilled water only. All tissue specimens were processed for routine paraffin embedding and serial cross-sections cut at 5–7 μm and stained with haematoxylin–eosin. Both histomorphologic and histomorphometric analysis was performed under light microscopy. An increase in the concentration of AFB1 resulted in a reduction in the population of healthy primordial, primary, secondary and tertiary follicles. The greatest reduction was in seen in group 3 (with 3.2 ppm AFB1/day). In all test groups, due to an increase in AFB1 concentration, in both the right and left ovaries, all types of atretic follicles, including primordial, primary, secondary, and tertiary atretic follicles were significantly increased (P?<?0.01). In conclusion, AFB1 is toxic for all type of ovarian follicles, including non-growing and growing follicles and exerts an atretogenic effect on all types of ovarian follicles. The atretogenic effect of AFB1 is dose dependant. Due to its toxic effects (gametotoxicity), the resting pool of ovarian follicles (primordial follicles) decreases significantly. The ovulatory follicular population either decreases or is completely depleted.     

Drug pipeline in neurodegeneration based on transgenic mice models of Alzheimer's disease

Alzheimer's disease (AD) is one of the most important neurodegenerative disorders, bringing about huge medical and social burden in the elderly worldwide. Many aspects of its pathogenesis have remained unclear and no effective treatment exists for it. Within the past 20 years, various mice models harboring AD-related human mutations have been produced. These models imitate diverse AD-related pathologies and have been used for basic and therapeutic investigations in AD. In this regard, there are a wide variety of preclinical trials of potential therapeutic modalities using AD mice models which are of paramount importance for future clinical trials and applications. This review summarizes more than 140 substances and treatment modalities being used in transgenic AD mice models from 2001 to 2011. We also discuss advantages and disadvantages of each model to be used in therapeutic development for AD.     

Assessing college students’ ego-identity status and their use of motivational regulation strategies

Using correlational analyses and structural equation modeling, this study tests three hypotheses: students’ reported use of motivational strategies is 1) correlated with their ego-identity status; 2) positively correlated with their reported use of learning strategies and negatively associated with their level of procrastination; and 3) related to their existing motivational beliefs and attitudes. Participants were American college students (N?=?113). The findings support all three hypotheses.

The study computed Pearson product moment correlations (listwise) among the ego identity and motivation measures; significant correlations ranged from 0.19 to 0.29. To test the hypothesized conceptual model, the study subjected the correlations to a confirmatory factor analysis. The five model varimax solution had excellent loadings on 16 variables; their standardized path coefficients were highly significant (p?df?=?161, p?=?0.0003; goodness of fit (GFI)?=?0.913; RMSEA?=?0.056).

The findings support the existence of a positive relationship between college students’ identity status and their use of motivational regulation strategies. They also suggest students’ use of motivational strategies is closely related to their use of cognitive and metacognitive strategies, but not to their level of academic procrastination. This article discusses practical applications for mental health providers and educators.