Distribution of Disease-Causing Mutations through Different Protein Domains in Patients with Severe Combined Immunodeficiency

Background and Aim: Severe combined immunodeficiency (SCID) has been described as the most severe form of primary immunodeficiency disorders (PID). The disease can be caused by mutations in more than 20 different genes with prevalence of 1 in 50000 to 100000 live births. In the present study, we described the protein domain position of variants in 14 main genes in patients with SCID. We also aimed to investigate the correlation between the variant distribution of protein domains and its pathogenicity and clinical outcome of the variant. Materials and Methods: Molecular genetic analysis including Sanger sequencing, targeted gene panel and whole exome sequencing were performed on 50 patients with SCID. Moreover, protein domains characteristics were extracted from different databases such as Uniprot and PDB and the reported mutations were obtained from HGMD and ENSEMBL databases. Results: Our results showed that the mortality rate had a significant correlation with severity of clinical manifestations in the patients (p-value=0.000). There was also a significant relationship between the protein type and mutation severity (p-value=0.001) and severity of clinical manifestations (p-value=0.025). However, there was no significant relationship between the mortality rate and occurrence of mutations in different domains of proteins (p-value=0.304) and the severity of mutations (p-value= 0.586). Conclusion: In severe genetic diseases such as SCID, mutations in related genes have affected the structure of the protein enough to cause severe symptoms. However, there are differences in the pathogenicity of the mutations based on their location on the protein domains. In order to determine these variations and predict the outcome of mutations, it is necessary to use in silico and laboratory methods along with statistical and data mining tools to track these minor differences

Prevalence of JAK2 V617F Mutation in Iranian Patients with Myeloproliferative Neoplasms

Background and Aim: Multiple lines of evidence have been suggested that JAK2 is likely the main candidate gene responsible for the pathogenesis of myeloproliferative neoplasms. The V617F mutation in the pseudokinase domain of JAK2 protein has been detected in a majority of patients. We aimed to evaluate the frequency of this somatic missense substitution among Iranian patients with myeloproliferative neoplasms. Methods Peripheral blood samples were collected from patients with myeloproliferative neoplasms across different regions of Iran. The JAK2 V617F mutation was identified by allele-specific PCR. To confirm the PCR results, randomly selected positive and negative samples were sequenced. Results: Among 72 identified patients, 45 (62.5%) were found to harbor JAK2 V617F. The frequencies of the mutation ranged 100% for primary myelofibrosis, 75% for chronic myelogenous leukemia, 67% for polycythemia vera, 62.5% for myelodysplastic/myeloproliferative neoplasms, and 52% for essential thrombocythemia. Our findings revealed that the mutation was more common among men in comparison with women and the correlation between the mutation and gender was statistically significant (p-value<0.01). Additionally, the presence of JAK2 V617F was associated with older ages (p-value =0.009). Conclusion: The JAK2 V617F mutation was detected in 62.5% of patients with myeloproliferative neoplasms. We have shown that this single acquired point mutation was presented in at least half of the patients. Hence, it seems that the identification of JAK2 V617F mutation in myeloproliferative neoplasms can be very effective in disease diagnosing and management. *Corresponding Author: Mohammad Hamid; Email: [email protected] Please cite this article as: Hamid M, Shahbaz Z. Prevalence of JAK2 V617F Mutation in Iranian Patients with Myeloproliferative Neoplasms. Arch Med Lab Sci. 2020;6:1-7 (e5). https://doi.org/10.22037/amls.v6.3275

A Study of Relationship between Library Anxiety and Emotional Intelligence among Students of University of Tabriz and Azarbaijan Shahid Madani University

The main objective of the present research was the possibility of predicting library anxiety (LA) concerning students’ emotional intelligence (EI). This study's objective, practical research, data gathering, and research method are descriptive correlational studies. Graduate students of Azarbaijan Shahid Madani University and Tabriz University make up the statistical population of this research. Based on Morgan’s formulae for sample size determination, 298 and 350 students were selected as the study's sample size. Then, the random sampling method was used to prepare the questionnaires, which were distributed and collected. The required information in preparing the questionnaires was taken from Siberia Schering's Emotional Intelligence and the “library anxiety questionnaire.” For examining the research hypotheses, Pearson Correlation Test and stepwise regression were used. Based on the present study's findings, the average emotional intelligence scores of students of Azarbaijan Shahid Madani University and Tabriz University were above-average, i.e. 3.003 and 3.169, respectively. The correlation of the coefficients of emotional intelligence and library anxiety turned out to be -0.38. Also, the multiple regression analysis results showed that 17% of the changes in library anxiety can be predicted or revealed based on students’ emotional intelligence, and that 83% percent of them depend on other reasons. The findings of this research can raise the awareness about the status of students’ emotional intelligence and library anxiety among officials of Azarbaijan Shahid Madani University and Tabriz University and help with future decision-making and planning. https://dorl.net/dor/20.1001.1.20088302.2022.20.1.1.

Explaining Mothers’ Experiences from Breastfeeding Education

Introduction: The aims of this study were describing mothers’ experiences from breastfeeding education and identifying the problems related to breastfeeding in order to submit a suggestion to policymakers who work in field of mother and child health promotion. Method: This descriptive qualitative study was conducted in Tehran, Iran, from May 2012 to June 2015. Participants were 9 women undergoing cesarean and one breastfeeding teacher who were selected purposefully. The method of data collection was an in-depth semi-structured interview. Obtained data were analyzed through conventional content analysis. Results: The codes derived from analysis of interviews were labeled in four categories: amount and conditions of breastfeeding education before and after childbirth, content and method of breastfeeding education before and after childbirth, barriers to effectiveness of education before and after childbirth, and suggestion about the most appropriate time and method for breastfeeding education. Conclusion: Most of the mothers do not have suitable conditions to learn how to breastfeed after baby delivery. Thus, the best time for initiation of breastfeeding education is during pregnancy, especially in the last weeks and days. After baby delivery and during the postpartum period, breastfeeding education has to be continued. Group-based breastfeeding education decreases the quality of education while the most appropriate way for breastfeeding education is individual education on mother’s bedside. Keywords: Breastfeeding, Hospitals, Cesarean section, Qualitative research, Educatio

The survey of Ultrasound – Electrocoagulation process in removal of Ciprofloxacin from aqueous through central composite design

Background and aims: Presence of antibiotics as emerging pollutants have aroused increasing concerns. The modelling of electrocoagulation process with ultrasound in the removal of Ciprofloxacin in aqueous solutions was aimed in the present study.Materials and Methods: In this study a reactor with 1000 mL volume was used. Copper and iron electrodes were exploited as cathode and anode electrodes. Electrodes were connected to a direct electrical current supply as monopolar. The optimization of pH, current density, initial concentration of CIP and reactiontime were conducted by CCD and finally suitable model was presented. In optimized conditions, the amount of electrode corrosion, COD and TOC removal, changes in the UV-Vis adsorption and FT-IR spectrum was measured. All procedures in study were conducted ethically.Results: Optimum conditions were found to occur at pH, current density, and reaction time of 7. 4, 1.5 In this situation the predicted and.A and 30 min, respectively in 15 mg CIP /L as an initial concentration actual efficiencies were 88.21 and 86.37 %, respectively. Also, a moderate COD and TOC removal, about64 and 51 percent was achieved, respectively. Result of FT-IR analysis showed considerable changes in functional groups during removal process. Synergist effect of US in electrocoagulation process was estimated to be only 14 percent.Conclusion: The results indicate that the proposed process have a good efficiency in CIP removal. It is possible to decrease the concentrations of similar pollutants before their discharge to the environment by the use of this method.Keywords: Ultrasound – Electrocoagulation process, modelling, Ciprofloxacin, Central composite design, aqueou

Effectiveness of Group Counselling on Improvement of Marital Relationship in Infidelity-Affected Mothers of Students in Tehran City

 Disclosure of infidelity may have destructive effects both on couples and children. Given the fact that children’s physical and psychological health depends on their parents’ healthy mutual relationship, attending improvement of couples’ relationships after infidelity disclosure seems necessary. The present study aimed to determine effectiveness of group counselling on improvement of marital relationship in infidelity-affected mothers. This applied study used quasi-experimental design with pre-posttest approach. Of the study population comprising all infidelity-affected mothers of students in Tehran city who had referred to counselling centers of Department of Education, 16 mothers were selected and randomly divided into the experimental and control groups.  Vaughan’s Spouse Infidelity Questionnaire and scholar-made Improvement of Marital Relations Questionnaire were used. The experimental group received 20 sessions of group counselling twice weekly. Data were analyzed via covariance and multivariable variance analysis. The results confirmed positive effects of group counselling on improvement of marital relationships (F = 11/10, p<. 0.05 ) and verbal communication skills (F=12.188, P<0.05) in infidelity-affected mothers, but it was not effective for enhancing security feeling of students growing up in these families (F=1. 139, p<0.05)

Rigidity Analysis of Protein Molecules

Intrinsic flexibility of protein molecules enables them to change their 3D structure and perform their specific task. Therefore, identifying rigid regions and consequently flexible regions of proteins has a significant role in studying protein molecules' function. In this study, we developed a kinematic model of protein molecules considering all covalent and hydrogen bonds in protein structure. Then, we used this model and developed two independent rigidity analysis methods to calculate degrees of freedom (DOF) and identify flexible and rigid regions of the proteins. The first method searches for closed loops inside the protein structure and uses Gr€ ubler-Kutzbach (GK) criterion. The second method is based on a modified 3D pebble game. Both methods are implemented in a MATLAB program and the step by step algorithms for both are discussed. We applied both methods on simple 3D structures to verify the methods. Also, we applied them on several protein molecules. The results show that both methods are calculating the same DOF and rigid and flexible regions. The main difference between two methods is the run time. It's shown that the first method (GK approach) is slower than the second method. The second method takes 0.29 s per amino acid versus 0.83 s for the first method to perform this rigidity analysis

Self-Reported Dental Public Health Competencies of Senior Dental Students: A Cross-Sectional Study

Objective: To reach the World Health Organization's goal of improving community oral health, Iranian oral health policy-makers expanded the scope of oral health by including dental public health (DPH) courses in the latest dental curriculum to improve students' competencies. The aim of the current study was to evaluate DPH competencies in senior dental students at Shahid Beheshti University of Medical Sciences, according to specified educational objectives. Methods: In the present cross-sectional study, 195 senior dental students (enrolled in 2014-2015) filled up an online standardized questionnaire. The instrument included demographic information as well as 31 statements about ten domains of DPH. Participants used self-assessment method to report the level of their competencies on a Likert scale of 0-10; Zero indicating "not competent at all", and 10 indicating "fully competent" for each statement. Then the mean score was calculated for each domain. Data analysis was conducted using Independent samples, T-test, One-way ANOVA, Mann-Whitney U-test, and Kruskal-Wallis via SPSS version 21. ResultsThe sum of scores for each participant was within the range of 63 to 310, and the mean (SD) was 216.68 (±43.69). Students were most competent in "Providing preventive dental care" (8.22±1.59), "Adherence to professional ethics" (7.56±1.68), and" Understanding determinants of oral health" (7.50±1.52). They were least competent in "Understanding components and functions of healthcare system" (5.96±2.06), "Planning" (6.06±2.45), and "Oral health research" (6.24±2.44). The mean score for females' (223.30±38.21) was significantly higher than males' score (207.15±49.25), (P=0.011). Conclusion: Although higher competencies were achieved in "Providing preventive dental care", "Adherence to professional ethics", and" Understanding determinants of oral health"; there are more areas to be accomplished, such as "Understanding components and functions of healthcare system", "Planning", and "Oral health research". These findings could be helpful either in revising the content materials, teaching methods, or both

Comparative Screening of Chloramphenicol Residue in Chicken Tissues Using Four Plate Test and Premi®Test Methods

Background: The safety of food with animal origin means that the food consumed is considered as safe when synthetic chemical agents are absent or present at very low concentrations. The aims of the present study were to validate the Premi®Test and four plate test (FPT) methods as well as screen and estimate the occurrence of chloramphenicol (CAP) residue in collected chicken tissues including liver, kidney and thigh muscle from Kermanshah, west of Iran. Methods: A total of 150 chicken samples were purchased from different poultry slaughterhouses in Kermanshah province, west of Iran and subjected to the FPT and Premi®Test. Results: The Premi®Test could not detect CAP residue at concentrations below 3 and 6 ppm in aqueous solution and kidney fluid, respectively. The highest sensitivity of FPT in the detection of CAP residue was optimally found in the agar medium inoculated with Bacillus subtilis at pH 7.2. The Premi®Test was more sensitive than FPT in the kidney fluid and aqueous solution. Regarding FPT results, CAP residue was found in 20% (n=30), 8.66% (n=28) and 11.33% (n=17) of liver, kidney and muscle samples, respectively. In the case of Premi®Test, the most contaminated samples were liver (24%), followed by kidney (22.66%) and muscle (19.33%). Conclusion: It can be concluded that illegal use of CAP in Iranian poultry industries should be taken into account seriously

بررسی فرایند سونو- الکتروکواگولاسیون در حذف سیپروفلوکساسین از محیط های آبی با طراحی ترکیبی مرکزی

Background and aims: Presence of antibiotics as emerging pollutants have aroused increasing concerns. The modelling of electrocoagulation process with ultrasound in the removal of Ciprofloxacin in aqueous solutions was aimed in the present study.Materials and Methods: In this study a reactor with 1000 mL volume was used. Copper and iron electrodes were exploited as cathode and anode electrodes. Electrodes were connected to a direct electrical current supply as monopolar. The optimization of pH, current density, initial concentration of CIP and reactiontime were conducted by CCD and finally suitable model was presented. In optimized conditions, the amount of electrode corrosion, COD and TOC removal, changes in the UV-Vis adsorption and FT-IR spectrum was measured. All procedures in study were conducted ethically.Results: Optimum conditions were found to occur at pH, current density, and reaction time of 7. 4, 1.5 In this situation the predicted and.A and 30 min, respectively in 15 mg CIP /L as an initial concentration actual efficiencies were 88.21 and 86.37 %, respectively. Also, a moderate COD and TOC removal, about64 and 51 percent was achieved, respectively. Result of FT-IR analysis showed considerable changes in functional groups during removal process. Synergist effect of US in electrocoagulation process was estimated to be only 14 percent.Conclusion: The results indicate that the proposed process have a good efficiency in CIP removal. It is possible to decrease the concentrations of similar pollutants before their discharge to the environment by the use of this method.زمینه و اهدف: حضور ترکیبات آنتی­­بیوتیک بعنوان آلاینده­های نوظهور باعث افزایش نگرانی­ شده است. هدف از این مطالعه، مدل­سازی فرایند الکتروکواگولاسیون در حضور امواج التراسوند در حذف سیپروفلوکساسین از محیط آبی است. مواد و روش‌ها: در این مطالعه، یک راکتور به حجم یک لیتر مورد استفاده قرار گرفت. الکترود مس بعنوان کاتد و الکترود آهن بعنوان آند استفاده شد. اتصال الکترودها به دستگاه تامین کننده جریان الکتریکی مستقیم بصورت تک قطبی پیوسته بود. بهینه­سازی پارامترهای pH، جریان الکتریکی، غلظت اولیه سیپروفلوکساسین و زمان واکنش با استفاده از طراحی ترکیبی مرکزی انجام شد و مدل مناسب ارایه شد. در شرایط بهینه فرایند، میزان خوردگی الکترودها، میزان کاهش COD و TOC، تغییرات ایجاد شده در منحنی طیف UV-Vis و طیف­ سنجی FT-IR اندازه­گیری شد. در کلیه مراحل انجام پژوهش، موازین اخلاقی، مراعات گردید. یافته‌ها: شرایط مناسب فرایند برای حذف آنتی­بیوتیک شامل pH برابر 7/4، جریان الکتریکی 1/5 آمپر، زمان واکنش برابر 30 دقیقه در غلظت اولیه 15 میلی­گرم در لیتر بدست آمد. در این حالت بازده تئوریکی و عملی به ­ترتیب برابر 88/21و 86/37درصد بدست آمد. کاهش COD و TOC به ترتیب برابر 64 و 51 درصد بود. نتایج FT-IR نشان دهنده تغییرات گسترده گروه­ های عاملی در طی فرایند بود. خاصیت هم­افزایی حضور امواج التراسوند با توان 350 وات و 40 کیلوهرتز در فرایند الکتروکواگولاسیون 14 درصد تعیین شد. نتیجه­ گیری: نتایج بیانگر کارایی نسبتا مناسب فرایند سونوالکتروکواگولاسیون در کاهش میزان سیپروفلوکساسین بود. با استفاده از این روش می­توان پساب حاوی این آلاینده را پس از کاهش غلظت، به محیط دفع نمود. کلید واژه‌ها: فرایند سونوالکتروکواگولاسیون، مدل­سازی­، سیپروفلوکساسین، طراحی ترکیبی مرکزی، محیط­های آب