Vol 53 No 5 (2024)

Review Article(s)

  • XML | PDF | downloads: 321 | views: 278 | pages: 978-987

    Background: This meta-analysis aimed to investigate the association between mean platelet volume (MPV) and systemic lupus erythematosus (SLE) disease activity, and laboratory parameters including the SLE Disease Activity Index (SLEDAI), C3 levels, anti-double-stranded DNA (anti-dsDNA) antibodies, and erythrocyte sedimentation rate (ESR).

    Methods: The Medline, Embase, and Cochrane databases were searched comprehensively to identify relevant articles. Meta-Analyses were performed to assess differences in MPV between patients with SLE and control groups and between active and inactive SLE. A separate meta-analysis explored correlation coefficients between MPV and SLEDAI, C3, anti-dsDNA, and ESR.

    Results: Fourteen studies comprising 659 patients with SLE and 682 controls were included. No significant difference in MPV was found between patients with SLE and control groups (standardized mean difference [SMD]: 0.406; 95% confidence interval [CI]: –0.087 to 0.899; P = 0.107). When stratified by ethnicity, the Arab population displayed markedly elevated MPV levels within the SLE group (SMD: 1.032; 95% CI: 0.475–1.588; P <0.001), unlike their European and Asian counterparts. MPV levels were higher in the active disease group than in the inactive group, particularly among the Arab population (SMD: 2.100; 95% CI: 0.406–3.794; P = 0.015), while no significant difference was observed within the Asian population (SMD: –1.493; 95% CI = –4.465 to 1.479; P = 0.325). MPV did not correlate with SLEDAI (correlation coefficient: 0.252; 95% CI: –0.016 to 0.486; P = 0.065), ESR, C3, or anti-dsDNA.

    Conclusion: MPV levels were generally higher in patients with SLE among the Arab population. Moreover, MPV and disease activity were positively correlated within the Arab population, underscoring the potential of MPV as a disease activity indicator in specific ethnic groups.

  • XML | PDF | downloads: 176 | views: 165 | pages: 988-996

    Background: We aimed to analyze the variability of the permanent trigeminal artery (PTA) and its relationship with cerebrovascular disease.

    Methods: To analyze the variability of the PTA and its relationship with cerebrovascular disease by using the terms "primitive trigeminal artery", "persistent primitive trigeminal artery", " persistent trigeminal artery variant", "PPTA", "PTAV", "carotid- basilar anastomoses", "carotid-vertebrobasilar anastomoses", "persisting embryonic vessels" were used as keywords, and the English-language literature related to PTA and cerebrovascular diseases published in PubMed, EMBAS, and Web of Science databases from 2000 to 2022 were searched by using "subject terms + free words". A meta-analysis of the collected data was performed using stata14.0 statistical software to assess the relationship between the immortal trigeminal artery and cerebrovascular-related diseases.

    Results: A total of 1908 relevant articles were initially retrieved for this study. Ten papers were initially screened according to the inclusion and exclusion criteria, while the literature was then read one by one to exclude duplicates, reviews, case reports, and conference abstracts, and six papers were finally included for meta-analysis. The six papers included in this paper were all cross-sectional studies with 39,355 subjects, of which 206 subjects had PTA, with a variation rate of approximately 0.52%, including 77 males and 129 females, 117 left-sided variants and 87 right-sided variants. In contrast, of the 206 subjects with a PTA, 52 had cerebrovascular disease, with an overall prevalence of approximately 25.24%.

    Conclusion: The PTA could influence the development of cerebrovascular disease.

  • XML | PDF | downloads: 215 | views: 244 | pages: 33203

    Background: Burnout is an occupational syndrome, with a higher prevalence in professionals whose close involvement with other people is significant. There is a great diversity of professionals at risk of burnout, and therefore the implementation of intervention programs is relevant, as helping people to maintain their mental and emotional health enables them to become more meaningfully involved in their communities and become more effective and active global citizens. We aimed to review systematically the characteristics of interventions targeting burnout in health professionals.

    Methods: The search was conducted in three databases: Scopus, Web of Science, and PubMed, following the PRISMA model, and 16 eligible articles were identified between 2012 and 2023.

    Results: Mindfulness showed great efficacy in preventing burnout, by reducing stress levels and promoting empathy. In addition, relaxation and breathing techniques, yoga, and music therapy showed to improve burnout and occupational stress levels. Balint groups have also helped slow the progression of burnout. Implications about the need for future research to foster the promotion of well-being and mental health of health professionals are mentioned.

    Conclusion: Mindfulness, relaxation and breathing techniques, yoga, music therapy and balint groups proved to be effective in preventing burnout.

  • XML | PDF | downloads: 136 | views: 129 | pages: 1009-1020

    Background: We aimed to evaluate the level of knowledge, awareness, and perceptions regarding osteoporosis (OP) and risk factors in China.

    Methods: The databases of PubMed, Medline, Embase, Web of science, VIP, and CNKI were searched for papers published before December 2022 using Chinese and English keywords and their combinations: “knowledge”, “osteoporosis”, “risk factor”, “bone health”, “perception”, “awareness”. The levels of knowledge, awareness, and perception about OP, as well as risk factors, clinical symptoms, and health information sources were narratively synthesized.

    Results: Sixteen papers were finally included for analysis. Participants all showed poor levels of knowledge and perception regarding osteoporosis and risk factors. Investigation of clinical symptoms was rarely involved in the included studies due to the asymptomatic features of OP. The findings also suggest a strong association between poor level of knowledge regarding OP and educational attainment, type of participant, and gender. The majority of participants are increasingly turning to the Internet and social media to access information about OP.

    Conclusion: The findings of this paper provide useful information for intervention providers to prevent and control OP and encourage them to carry out health promotion campaigns to enhance knowledge and awareness of OP.

  • XML | PDF | downloads: 229 | views: 122 | pages: 1021-1032

    Abstract

  • XML | PDF | downloads: 142 | views: 177 | pages: 1033-1046

    Background: We aimed to verify the exposure to mercury in the air and its effect on cardiovascular disorders.

    Methods: The review was conducted using PubMed, Scopus, Web of Science, Embase, and national databases (such as SID) from 1995-2022.

    Results: Mercury exposure can cause many disorders in humans, including neurodevelopmental disorders in fetuses and children, adverse cardiovascular outcomes, hypertension, and diabetes. Mercury is a human neurotoxin, and in recent years its potentially harmful effects on cardiovascular disease (CVD) have raised concerns, mainly due to mercury's role in reducing oxidative stress.

    Conclusion: Possible mechanisms of mercury toxicity in CVD include mercury-selenium interaction, increased lipid peroxidation, and oxidative stress. In this article, we review studies that have investigated the relationship between mercury and CVD.

  • XML | PDF | downloads: 143 | views: 178 | pages: 1047-1057

    Background: Infectious outbreaks due to disrupted social and environmental conditions after climate change-induced events complicate disasters. This research aimed to determine the contentions of bioclimatic variables and extreme events on the prevalence of the most common Climate-Sensitive Infectious Disease (CSID); Malaria in Iran.

    Methods: The present narrative systematic review study was conducted on the bioclimatic variable impact on the prevalence of malaria, as a common CSID. The search was conducted in 3 sections: global climate change-related studies, disaster related, and studies that were conducted in Iran. The literature search was focused on papers published in English and Persian from Mar 2000 to Dec 2021, using electronic databases; Scopus, Web of Science, PubMed, Google Scholar, SID, Magiran, and IranDoc.

    Results: Overall, 41 studies met the inclusion criteria. The various types of climatic variables including; Temperature, rainfall, relative humidity, and hydrological events including; flood, drought, and cyclones has been reported as a predictor of malaria. The results of studies, inappropriately and often were inconsistent in both Iran and other parts of the world.

    Conclusion: Identifying malaria outbreak risks is essential to assess vulnerability, and a starting point to identify where the health system is required to reduce the vulnerability and exposure of the population. The finding of most related studies is not congruent to achieve reliable information, more extensive studies in all climates and regions of the country, by climatic models and high accuracy risk map, using the long period of bioclimatic variables and malaria trend is recommended.

Original Article(s)

  • XML | PDF | downloads: 198 | views: 150 | pages: 1058-1067

    Background: A local clinic-based chronic disease management intervention including care planning, education about disease management, monitoring, and evaluation of the achievement of objects was introduced in Korea in 2019. We evaluated the effect of the intervention on medication adherence in patients with hypertension and diabetes.

    Methods: In 2019, a one-year retrospective case-control group study design was performed using data from the National Health Insurance Service in Korea. Propensity score matching was used to control for selection bias. Medication adherence, calculated by medication possession rate, was the dependent variable. We conducted multivariate logistic regression analyses to examine the association between participation in the intervention and medication adherence, adjusting for covariates. A control group was set as a reference for participation in the full/partial component intervention.

    Results: The proportions of participants in the full component intervention in the experimental group were 43.2% and 42.6% for patients with hypertension or diabetes, respectively. Both these groups tended to be more medication adherent than their counterparts (hypertension OR: 1.23, 95% CI 1.03-1.45, diabetes OR: 1.64, 95% CI: 1.24-2.17).

    Conclusion: Institutionalizing a comprehensive chronic disease management program using multidisciplinary teams in the primary care context is crucial. Also, it is necessary to refine reimbursement payment systems.

  • XML | PDF | downloads: 221 | views: 210 | pages: 1068-1076

    Background: Compared with able-bodied people, speech disabilities are more prone to various mental health problems. We aimed to explore the impact of positive psychology-based intervention strategies on emotional cognition, mental health, and recovery of speech function in speech disabilities.

    Methods: In May 2023, 306 cases of speech disabilities were selected from 112 village committees and 129 neighborhood committees in Jingmen City, China. The control group was given routine speech rehabilitation training, and the observation group was given an intervention strategies-based on positive psychology based on the above training. The Symptom Checklist-90 (SCL-90), Chinese Facial Emotion Test (CFET), Comprehensive Function Assessment for Disabled Children (CFADC), and Boston Diagnostic Aphasia Examination (BDAE) were used to evaluate the two groups of patients before and after intervention.

    Results: After the intervention, the mental state scores (psychotic, obsessive-compulsive symptoms, somatization, paranoia, terror, hostility, anxiety, and depression) of the observation group were lower than those of the control group (P<0.05). The correct emotional scores in the observation group were higher than those in the control group were. However, the remote error scores of the observation group were lower than those of the control group were. The difference was also statistically significant (P<0.05). The cognitive function score, speech function score, and BDAE score (retelling, writing, fluency, and reading comprehension) of the observation group were all higher than those of the control group (P<0.05).

    Conclusion: The intervention strategies-based on positive psychology could promote the improvement of health problems and speech function in speech disabilities.

  • XML | PDF | downloads: 135 | views: 126 | pages: 1077-1086

    Background: Symptoms of depression, sleep, and fatigue in stroke patients are associated with each other, and intervention development for improving of these symptoms is needed. This study aimed to examine the effects of hot red bean bag on depression, sleep state, sleep satisfaction, and fatigue among Korean stroke patients.

    Methods: A quasi-experimental pretest-posttest control group design was employed. The study participants included 57 stroke patients (Intervention: n=28, Control: n=29) in a hospital in Seoul, South Korea from Aug 2017 to Mar 2018. Hot red bean bag, as an intervention, was heated in a 2,450 MHz microwave oven for 3 min, and applied for 30 min at 41±6 ℃ in the lower limbs of the intervention group for 5 days.

    Results: There were statistically significant differences on depression (P<0.001), sleep state (P<0.001), sleep satisfaction (P<0.001), and total fatigue (P<0.001) between the two groups.

    Conclusion: Hot red bean bag was an effective intervention for decreasing depression and total/subcategories fatigue, and for improving sleep state and sleep satisfaction of Korean stroke patients. Research on complementary and alternative therapies for stroke patients needs be studied continuously.

  • XML | PDF | downloads: 108 | views: 106 | pages: 1087-1095

    Background: We aimed to investigate the clinical application effect of people-oriented nursing model on the negative emotions and psychological conditions of patients with bladder cancer.

    Methods: Eighty patients with bladder cancer were enrolled from January 2020 to January 2022 in the Second Affiliated Hospital of Qiqihar Medical University Heilongjiang, Province, China. The patients were randomly divided into the control group, each group consisted of 40 patients (conventional nursing mode) and the experimental group (people-oriented nursing mode) according to the admission time. The differences of the anxiety, depression and quality of life scores at the time of admission and discharge were compared between the two groups.

    Conclusion: The people-oriented nursing model could relieve the negative emotions, relieve pain and improve the life quality of patients with bladder cancer.

  • XML | PDF | downloads: 144 | views: 144 | pages: 1096-1103

    Background: Occupational stress is often high among the employees of insurance companies. We aimed to examine the effects of emotional labor and job stress on job satisfaction among insurance and asset managers and the moderating effect of regular exercise participation in these relationships.

    Methods: This study was conducted in October 2022. A total of 261 insurance and asset managers working at Samsung Life Insurance Company, Seoul, Republic of Korea, were selected using non-probability purposive sampling. Data were collected using questionnaires. The data collected were analyzed using frequency analysis, descriptive statistics, confirmatory factor analysis, correlation analysis, structural equation model analysis, measurement equivalence tests, multi-group structural equation model analysis, and parametric comparison analysis.

    Results: Both emotional labor and job stress had a negative effect on the job satisfaction of insurance and asset managers (P< 0.05). Regular exercise participation moderated the relationship between emotional labor and job satisfaction (P< 0.05) but not the relationship between job stress and job satisfaction.

    Conclusion: The results of this study might help encourage devising of strategies that increase exercise participation among insurance and asset managers in order to reduce their emotional labor and job stress while simultaneously increasing their job satisfaction.

  • XML | PDF | downloads: 341 | views: 474 | pages: 1104-1114

    Background: The term "internet addiction" (IA) describes a compulsive behavior associated with any online activity that disrupts everyday social interactions. Main aim of this research was to determine variables and development predictors of Internet addiction.

    Methods: A total of 1,669 respondents participated in this research; 1,040 of them (62.3%) were female, 590 (35.4%) were male, and 39 (2.3%) did not want to declare their gender. The average age of the respondents was 15.09±1.757. Data were collected using an online form consisted of demographic data, questions related to the use of the Internet, the Internet Addiction Scale, and the Temperament Evaluation of Memphis, Pisa, Paris, and San Diego-auto questionnaire version (TEMPS-A) for adolescents.

    Results: The relationship between Internet addiction and age, addictive substance use frequency, purpose, time spent on the internet, and type of temperament has been proven. Analysis results indicate that the risk of developing internet addiction is higher if an adolescent spends 1-3 hours and more than 3 hours daily (2.8 and 8.2 times, respectively). Increasing age numbers for 1 unit (year), the risk of internet addiction developing is decreasing by 11.3%. Hyperthymic temperament type decreases the risk of 70.9% of internet addiction developing.

    Conclusion: It is important to highlight importance of our results since practitioners can utilize our findings to create targeted treatments and prevent internet addiction in adolescents.

  • XML | PDF | downloads: 122 | views: 117 | pages: 1115-1127

    Background: Oral infections have been seen in humans since ancient times. Excessive penetration of this infection can cause human death. Most of these infections are gum cysts and abscesses. The cyst creates large hard lumps in the gums, which is causes loose, and protruding teeth and abscesses, causing cavities in the jawbone and teeth. In this article, we have discussed for this infectious disease in 4000 – year - old ancient humans from Qazvin Province, Iran. The bone remains of our research are related to Sagezabad ancient cemetery in Qazvin plain.

    Methods: We tried to use reliable international atlases to get detailed information about ancient oral infections. The bones were extracted from the 2019 excavation of the Ghara Tappe area of Sagezabad for the Iron Age 2nd and 3rd Qazvin plains of Iran. This cemetery belongs to the period of the Medes Kingdom (pre - Achaemenian kingdom) in Iran.

    Results: We have discussed one of the ancient cemeteries with a large number of ancient populations. In this cemetery, there are signs of war and infectious diseases on the bones, which can be clearly seen. We have specially mentioned the abscess as the cause of oral infection from Sagezabad cemetery.

    Conclusion: Oral infection existed in Iran since 2000 BC. Of course, this infection was common in ancient times and even Paleolithic period, like Homo Heidelbergensis.

  • XML | PDF | downloads: 171 | views: 250 | pages: 1128-1136

    Background: Suicide as the commonest psychiatric emergency imposes a heavy burden on communities. We aimed to evaluate the years of life lost (YLLs) due to premature death from suicide in Kohgiluyeh and Boyer-Ahmad Province, Iran.

    Methods: Data regarding suicidal deaths were extracted from the Forensic Medicine Organization. The YLL of each year were calculated among gender and age groups. The YLL calculation was performed using the 2015 WHO excel calendars template. The Join Point Regression method was used to examine the trend of the crude mortality rate, the standardized mortality rate, and the YLL rate.

    Results: Overall, 572 people died by suicide between 2016 and 2021 (63.5% in males and 36. 5% in females). The main method of death in most cases was hanging (52.8%). The total YLL due to premature death in the 6 year– period was 9248 (4.2 per 1000 persons) in males, 5602 (2.6 per 1000 persons) in females. Hanging (7909) compromised the largest YLL category between different methods of suicide. According to the joinpoint regression analysis, the 6-year trend of YLL rate due to premature mortality was increasing in males: the annual percent change (APC) was 4.8% (95% CI 1.0 to 8.7, P=0.024) and stable trend for females.

    Conclusion: The YLL was higher in men than in women. Effective training interventions should be designed and implemented to reduce the incidence of suicide.

     

     

  • XML | PDF | downloads: 106 | views: 149 | pages: 1137-1145

    Background: One of the most prevalent gastrointestinal tract ailments is gallstone disease (GD). Diet has been acknowledged as a modifiable GD risk factor. The Healthy Eating Index (HEI) is a scale for evaluating the quality of diets; therefore, this study aimed to determine whether the HEI-2015 score was associated with serum metabolic parameters in women with GD.

    Methods: This case-control study was conducted on a sample of 75 women diagnosed with GD and 75 healthy women at the Gastroenterology and Hepatology Clinic of Shahid Beheshti University of Medical Science in Tehran, Iran. Standard laboratory methods were employed to measure the biochemical parameters. The participants' habitual dietary intake was assessed using a validated food frequency questionnaire (FFQ). The HEI-2015 score was computed for all participants. The study employed multivariate logistic regression to identify the optimal predictor of GD. The Pearson Correlation was employed to determine the correlation between the HEI-2015 and serum metabolic parameters.

    Results: The study found a significant negative association between the risk of GD and serum HDL-c (OR: 0.84; 95% CI: 0.76–0.95, P=0.008). Moreover, a significant positive association was detected between HOMA-IR (OR: 3.27; 95% CI: 1.16-9.19, P=0.025), and the risk of GD. The study did not find a statistically significant correlation between the HEI-2015 and serum parameters.

    Conclusion: While an association was discovered between certain serum metabolic parameters and the risk of GD, the results do not provide a significant association between serum metabolic parameters and HEI-2015 score.

  • XML | PDF | downloads: 96 | views: 91 | pages: 1146-1154

    Background: In addition to creating significant health gains, taxation can be used to increase public health funding. However, achieving the goals of health-related taxes faces many barriers and problems. We aimed to examine the barriers and solutions to facilitate the payment and receipt of health taxes.

    Methods: The present descriptive and analytical study was conducted in 2021-2022. The first part of the research was the questionnaire's design and validation, and the second part was using the designed questionnaire to collect and analyze data. The validity of the questionnaire was measured using the content validity, and the reliability of the questionnaire was measured using Cronbach's alpha. Then, the questionnaires were distributed in person at the workplace of 430 professors, managers, and experts in economics and health, and the collected data were reviewed and analyzed.

    Results: Barriers and problems related to structure and infrastructure, evasion, avoidance, and tax exemption, and coordination and cooperation are the most important problems related to health taxes. Moreover, evasion, avoidance and tax exemption, cultural and social issues, and coordination and cooperation are the most important solutions to overcome the problems of health taxes.

    Conclusion: To dispel the barriers and facilitate the payment and receipt of health-related taxes and achieve the goals of the health sectors, it is very important to deal with tax evasion, build a culture, and close cooperation with related organizations.

  • XML | PDF | downloads: 92 | views: 86 | pages: 1155-1163

    Background: As the vital and scarce resource of the health system, physicians are responsible for treating patients and saving lives and the equitable distribution of physicians among the whole population is a prerequisite to achieving health for all. We aimed to investigate inequality in physician distribution in the world using the Gini coefficient.

    Methods: This descriptive-analytical study was conducted in 2021. The number of physicians and the population of countries were obtained from the WHO and United Nations (UN) databases. The Gini coefficient was calculated in three different modes and the distribution of physicians among countries in various Human Development Index (HDI) groups was determined using the physician ratio per 10,000 population.

    Results: There were generally more than 13 million doctors in the world. About 43% of the world's physicians were available to 20% of the world's population in very high HDI countries, and 12% of the population had access to about 1% of physicians in low HDI countries. An average of 19.5 physicians are distributed per 10,000 population worldwide. The Gini coefficient between the four groups of HDI countries was 0.55, and that of all countries in the world was 0.640.

    Conclusion: There was a shortage and inequality in the distribution of physicians worldwide. Governments should eliminate inequality in the distribution of the medical workforce, in particular physicians, by redoubling their efforts and accurate planning.

  • XML | PDF | downloads: 116 | views: 99 | pages: 1164-1174

    Background: Sodium butyrate (NaBu) is a short-chain fatty acid; it is one of the histone deacetylase inhibitors, which can alter both genetic and epigenetic expressions. The present study aimed to elucidate the effect of NaBu on the expression of miR-21, miR-143, and miR-145 in human colorectal cancer HCT-116 cell lines.

    Methods: This study was done in Tehran Medical Sciences, Islamic Azad University, Tehran, Iran. HCT-116 cell line was treated with diverse concentrations of NaBu (6.25 mM to 200 mM) at 24, 48, and 72 h. MTT assay was used for assessing the cytotoxicity. Quantitative Real-Time-PCR was performed to investigate the gene expression of miR-21, miR-143, and miR-145.

    Results: IC50 values were evaluated by MTT assay. IC50 for HCT-116 was 50 mM, 12.5 mM, and 6.25 mM for 24, 48, and 72 h of incubation, respectively. According to the Real-Time-PCR results, 50 mM NaBu after 24 h caused a significant up-regulation in the expression of the miR-21, miR-143, and miR-145 (P<0.05). In 48 h, incubation, 12.5 mM NaBu caused a significant up-regulation in the expression of the miR-21, miR-143, and miR-145 (P<0.05). In treated cells with 6.25 mM NaBu after 72 h of incubation caused a significant up-regulation in the expression of the miR-21, miR-143, and miR-145 compared with untreated cells (P<0.05).

    Conclusion: The upregulation of miR-21, miR-143, and miR-145 expression are mediated by transcriptional regulation and the activation of this miR promoter is modulated by histone acetylation. The employment of NaBu may represent a promising approach for improving HDACi drug-based therapies for colon cancers.

  • XML | PDF | downloads: 116 | views: 93 | pages: 1175-1183

    Background: An important route of microbial transmission is the shared use of these products in beauty salons. We aimed to investigate level of contamination with microorganisms and their metabolites in shared-use cosmetics in several women's beauty salons.

    Methods: Bacterial and fungal strains from 320 opened/used cosmetic samples were identified according to the Iranian standards for microbial quality of cosmetic products in Golestan Province (North of Iran) during Jul-Sep 2021. In order to assess production of toxins and protease by the predominant bacterial and fungal isolates, multiplex-polymerase chain reaction and the Lowry protein assay were performed, respectively.

    Results: Microbial contamination was detected in 180 samples (56.5%), and the highest and lowest rates of microbial contamination were related to skin products (63.88%) and eye beauty products (20%), respectively. The highest level of S. aureus contamination (> 4,000 colony-forming units/g) was found in toner and face wash samples, and the highest level of C. albicans contamination was seen in lipstick samples (>20,000 colony-forming units/g). Only one (2%) S. aureus isolate produced staphylococcal enterotoxin B, while 3 out of 12 (25%) C. albicans isolates were able to produce protease.

    Conclusion: The shared-used health and beauty products, face products, in the study area are heavily contaminated. Therefore, it is essential to store used cosmetics in dry and cool places, establish strict inspection regulations for cosmetic products before and after entering the market, and increase awareness of beauty salon workers regarding the appropriate use, sanitary control, and maintenance of health and beauty products.

  • XML | PDF | downloads: 115 | views: 192 | pages: 1184-1191

    Background: Plectinopathy-associated disorders are caused by mutations in the PLECTIN (PLEC) gene encoding Plectin protein. PLECmutations cause a spectrum of diseases defined by varying degrees of signs, mostly with epidermolysis bullosa simplex with muscular dystrophy (EBS-MD) and plectinopathy-related disorder is limb-girdle muscular dystrophy type 2Q (LGMD2Q). Here we report three cases with EBS-MD and LGMD2Q disorders analyzed by exome sequencing followed by mutation confirmation.

    Methods: A complete clinical examination was done by expert specialists and clinical geneticists in Next Generation Genetic polyclinic, Mashhad, Iran (NGC, years 2020 _2021),. Genomic DNA was extracted and evaluated through whole-exome sequencing analysis followed by Sanger sequencing for co-segregation analysis of PLEC candidate variants.

    Results: We found three cases with the plectinopathy-related disease, two patients with limb-girdle muscular dystrophy type 2Q (LGMD2Q), and the other affected proband suffers from epidermolysis bullosa simplex combined with muscular dystrophy (EBS-MD) with variable zygosity mutations for PLEC. Motor development disorder and muscular dystrophy symptoms have different age onset in affected individuals. Patients with EBS demonstrated symptoms such as blistering, skin scars, neonatal-onset, and nail dystrophy.

    Conclusion: We report plectinopathy-associated disorders to expand clinical phenotypes in different types of PLEC-related diseases. We suppose to design more well-organized research based on comprehensive knowledge about the genetic basis of plectinopathy diseases.

  • XML | PDF | downloads: 94 | views: 104 | pages: 1192-1199

    Background: Thalassemia is an inherited blood disorder with a defect in the sufficient production of a protein called hemoglobin. We aimed to investigate the simple blood indices of patients with Beta Thalassemia Trait (BTT) and Iron Deficiency Anemia (IDA) to propose a new formula using logistic regression for differentiate two characteristics from each other.

    Methods: Among the 702 records of the BTT Counseling Center (Khoy, Iran-2022), 292 cases (219 iron deficiency anemia (IDA) and 73 BTT) were eligible for the study. Blood indices such as RBC, HGB, HbA2 described and used to diagnose two types of participants. Blood indices had high multicollinearity that was modified. Logistic regression for blood indices fitted and goodness of fit indices with Area Under ROC curve (AUC) estimated.

    Results: The average age of the participants was 24.56 yr. The status of Multicollinearity between independent variables was modified. The HGB, MCV, HbA2, and HbA variables were used in the model and only HbA2 status was significant (P<0.001). According to the output of the model, for each unit increase in HbA2, the chance of having BTT was about 8.5 times higher than IDA. The sensitivity, specificity, AUC curve, and accuracy of the final model were estimated to be 97, 72, 84, and 93%, respectively. A regression formula to differentiate BTT from IDA proposed.

    Conclusion: In studies related to the differentiation of the BTT from IDA, the presence of the HbA2 index in the model and prediction is very necessary.

  • XML | PDF | downloads: 111 | views: 102 | pages: 1200-1208

    Background: Toxoplasma gondii, a neurotropic protozoan, infects up one to third of the world population. The parasite can invade a wide variety of nucleated cells but preferably glial cells. Glia maturation factor β (GMFβ), a 17KD protein expressed at high levels in the central nervous system is predominantly related to neurodegenerative diseases such as Alzheimer's disease, Parkinson's disease, and Multiple sclerosis. We aimed to determine the expression level of GMFβ and its relation to other pro-inflammatory factors (IL33, SDF1, and CCL2) on T. gondii infected human neuroblastoma cell line.

    Methods: The human neuroblastoma (SK_NMC C535) cell line was infected by 5106 (1:1 ratio). The supernatant was collected after cell lysis and centrifugation. Total RNA was extracted using the Yekta Tajhiz RNA extraction kit. cDNA was synthesized based on RevertAid First Strand cDNA Synthesis Kit manufacturer`s protocol (Parstous, cDNA synthesis kit, Iran). The specificity of each primer pair (GMFβ, IL33, SDF1, and CCL2) was provided by NCBI BLAST. Gene expression level was measured using Real-Time PCR. All experiments were conducted at the Hamadan University of Medical Sciences, western Iran in 2022.

    Results: The GMFβ increased significantly up to 1.35-fold (P=0.007). The increase in GMFβ expression in neuroblastoma cells was consistent with the increase in pro-inflammatory factors (CCL2 (0.47), IL33 (0.152) and, SDF1 (1.33)).

    Conclusion: GMFβ upregulation can be a novel indicator of the destruction of nerve cells.