Search

Background and objective: Autosomal recessive genetic disorders pose significant health challenges in regions where consanguineous marriages are prevalent. The utilization of exome sequencing as a frequently employed methodology has enabled a clear delineation of diagnostic efficacy and mode of inheritance within multiplex consanguineous families. However, these aspects remain less elucidated within simplex families. Methods: In this study involving 12 unrelated simplex Iranian families presenting syndromic autism, we conducted singleton exome sequencing. The identified genetic variants were validated using Sanger sequencing, and for the missense variants in FOXG1 and DMD, 3D protein structure modeling was carried out to substantiate their pathogenicity. To examine the expression patterns of the candidate genes in the fetal brain, adult brain, and muscle, RT-qPCR was employed. Results: In four families, we detected an autosomal dominant gene (FOXG1), an autosomal recessive gene (CHKB), and two X-linked autism genes (IQSEC2 and DMD), indicating diverse inheritance patterns. In the remaining eight families, we were unable to identify any disease-associated genes. As a result, our variant detection rate stood at 33.3% (4/12), surpassing rates reported in similar studies of smaller cohorts. Among the four newly identified coding variants, three are de novo (heterozygous variant p.Trp546Ter in IQSEC2, heterozygous variant p.Ala188Glu in FOXG1, and hemizygous variant p.Leu211Met in DMD), while the homozygous variant p.Glu128Ter in CHKB was inherited from both healthy heterozygous parents. 3D protein structure modeling was carried out for the missense variants in FOXG1 and DMD, which predicted steric hindrance and spatial inhibition, respectively, supporting the pathogenicity of these human mutants. Additionally, the nonsense variant in CHKB is anticipated to influence its dimerization – crucial for choline kinase function – and the nonsense variant in IQSEC2 is predicted to eliminate three functional domains. Consequently, these distinct variants found in four unrelated individuals with autism are likely indicative of loss-of-function mutations. Conclusions: In our two syndromic autism families, we discovered variants in two muscular dystrophy genes, DMD and CHKB. Given that DMD and CHKB are recognized for their participation in the non-cognitive manifestations of muscular dystrophy, it indicates that some genes transcend the boundary of apparently unrelated clinical categories, thereby establishing a novel connection between ASD and muscular dystrophy. Our findings also shed light on the complex inheritance patterns observed in Iranian consanguineous simplex families and emphasize the connection between autism spectrum disorder and muscular dystrophy. This underscores a likely genetic convergence between neurodevelopmental and neuromuscular disorders. [ABSTRACT FROM AUTHOR]

Background: The ultra-rare autosomal recessive genetic disorder, You-Hoover-Fong Syndrome (YHFS), is caused by defects in the TELO2 gene and is characterized by intellectual disability, developmental delay, and ocular impairments. This study aims to contribute to a better understanding of YHFS by reviewing previous cases and introducing a novel variant in a new case. Methods: Whole exome sequencing (WES) was conducted on the proband to identify genetic variants, and Sanger sequencing was used to confirm variants within the family. This article presents a comprehensive collection of reported cases of YHFS, incorporating both molecular and clinical data, through an extensive literature search and analysis of English-language studies published until June 2023. Results: Using WES, a novel homozygous missense variant, c.1799A > G (p. Tyr600Cys), was identified in the TELO2 gene in a 4-year-old Iranian male patient. Novel clinical features, including choanal atresia and clubfoot, were also identified. A comprehensive literature review identified 27 patients with YHFS, with 20 variants in the TELO2 gene. Missense pathogenic variants were the most common type of pathogenic variant, and the most common features were microcephaly and intellectual impairment. Conclusion: This study presents the first case of pathogenic variants in TELO2 gene in Iran, expands the genotypic and phenotypic spectrum of YHFS and contributes to the growing body of literature pertaining to YHFS. Furthermore, our findings highlight the importance of genetic testing for non-consanguineous carrier screening, as compound heterozygosity may be a significant factor in the development of YHFS. Further research is needed to clarify the molecular mechanisms underlying YHFS pathogenesis. [ABSTRACT FROM AUTHOR]

Aim: The purpose of this study is to evaluate the oral probiotic effect on pregnancy outcomes in pregnant women undergoing cerclage compared to placebo. Methods: This study was a double-blind randomized clinical trial undertaken in Yasuj, Iran. 114 eligible participants who have undergone cerclage were randomly divided to either receive probiotic adjuvant or 17α-OHP (250 mg, IM) with placebo from the 16th -37th week of pregnancy by "block" randomization method. Our primary outcomes were preterm labor (PTB) (late and early) and secondary outcomes were other obstetrical and neonatal outcomes included preterm pre-labor rupture of membranes (PPROM), pre-labor rupture of membranes (PROM), mode of delivery, and neonatal outcomes including anthropometric characterize and Apgar score (one and fifth-minute). Results: Results show that there are no statistically significant differences between the two groups in terms of PTB in < 34th (15.51% vs. 17.86%; P = 0.73) and 34-37th weeks of pregnancy (8.7% vs. 16.1%; P = 0.22), and mode of delivery (P = 0.09). PPROM (8.7% vs. 28.5%; P = 0.006) PROM (10.3% vs. 25%; P = 0.04) was significantly lower in patients receiving probiotic adjuvant compared to the control group. After delivery, the findings of the present study showed that there were no significant differences in newborn's weight (3082.46 ± 521.8vs. 2983.89 ± 623.89), head circumstance (36.86 ± 1.53vs. 36.574 ± 1.52), height (45.4 ± 5.34 vs. 47.33 ± 4.92) and Apgar score in one (0.89 ± 0.03 vs. 0.88 ± 0.05) and five minutes (0.99 ± 0.03vs. 0.99 ± 0.03) after birth. Conclusion: Our result has shown that the consumption of Lactofem probiotic from the 16th week until 37th of pregnancy can lead to a reduction of complications such as PPROM and PROM. [ABSTRACT FROM AUTHOR]

Objectives: Considering the role of oxidants in asthma, airway inflammation, and the anti-inflammatory effects of Nasturtium officinale extract, this study aimed to investigate the impact of the hydroalcoholic extract of Nasturtium officinale on sleep quality, asthma control, and quality of life in asthmatic patients. Methods: This parallel group randomized clinical trial was conducted in Yasuj, Iran. It included 60 patients who randomly received either Nasturtium officinale hydroalcoholic extract (500 mg daily, for four weeks, orally plus routine care) or a placebo (500 mg capsule containing flour daily, for four weeks, orally plus routine care). To achieve the study objectives, lung function (FEV1, FVC, PEF, FEF 25-75%, and FEV1/FVC), quality of life as measured by the 12-item Short Form Health Survey (SF-12), sleep quality as measured by the Pittsburgh Sleep Quality Index (PSQI), and asthma control as examined by the Asthma Control Test (ACT) were assessed at baseline and one-month follow-up. Results: In total, 48 patients (22 patients in the intervention group and 26 patients in the control group) completed the study. The analyses showed no significant differences between the two groups regarding changes in lung function, quality of life, sleep quality, and status of asthma control within a one-month follow-up. Conclusion: The findings suggest that the hydroalcoholic extract of Nasturtium Officinale does not appear to improve sleep quality, asthma control, and quality of life in asthmatic patients in the short term. [ABSTRACT FROM AUTHOR]

In this study, we determine the stress release from the 2003 Bam earthquake (Mw 6.6) by applying the stress inversion technique to focal mechanisms of 199 aftershocks. There is no evidence of significant surface faulting that can be used to study the faulting pattern of the Bam fault zone. Therefore, we applied two independent methods for identifying the faulting pattern in this zone: the instability criterion based on the analysis of orientations of nodal planes of focal mechanisms with respect to the regional stress, and the Fry method based on the analysis of spatial clustering of aftershock foci. The results show that the fault associated with the 2003 Bam earthquake is well oriented for shearing under the present-day regional stress. We identified four sets of faults with a close angular relation to the maximum horizontal compression (SHmax) that have been (re)activated. These faults include strike-slip (right lateral and left lateral), thrust, and normal faults that are oriented approximately oblique, perpendicular, and parallel relative to the SHmax, respectively. The direction of the SHmax is N31° E. Based on the results, we propose to apply the instability criterion and the Fry method to seismic data as two valuable and independent techniques in order to constrain the kinematic and active faulting in the area. [ABSTRACT FROM AUTHOR]

Selection and breeding for high‐yielding in oilseed rape have always been one of the leading objectives for oilseed rape breeders. This process becomes more complicated when all quantitative traits are considered in selection in addition to grain yield. In the present study, 18 oilseed rape genotypes along with 2 check cultivars (RGS003 and Dalgan) were evaluated across 16 environments (a combination of 2 years and eight locations) in the tropical climate regions of Iran during 2018–2019 and 2019–2020 cropping seasons. The experiments were conducted in a format of randomized complete block design (RCBD) with three replications. The obtained multienvironmental trial data were utilized to conduct multivariate analysis, genotype by trait (GT) biplot, and genotype by yield*trait (GYT) biplot (Breeding, Genetics and Genomics, 1:2019). The GT and GYT biplot accounted for 55.5% and 93.6% of the total variation in the first two main components. Based on multivariate analysis and GT biplot, pod numbers in plant (PNP) and plant height (PH) were chosen as two key traits in spring oilseed rape genotypes for indirect selection due to high variation, strong positive correlation with grain yield (GY), and their high representatively and discriminability in genotype selection. The mean × stability GT biplot represented G10 (SRL‐96‐17) as the superior genotype. Based on the mean × stability GYT biplot, eight above‐average genotypes were identified that took high scores in stability, high‐yielding, and all evaluated quantitative traits at the same time. Based on the superiority index of GYT data, G10 (SRL‐96‐17) and G5 (SRL‐96‐11) indicated the best yield–trait combinations profile and ranked above check cultivars and then selected as superior genotypes. Similarly, cluster analysis using the WARD method also separated eight superior genotypes. Based on the result of the present study, GT ad GYT methodologies are recommended for trait profiling and genotype selection in oilseed rape breeding projects, respectively. [ABSTRACT FROM AUTHOR]

Agricultural entrepreneurship offers far more opportunities in entrepreneurial development because it serves as a breeding ground for micro-businesses. Nonetheless, the role of the entrepreneur as a driver of economic growth and job creation in society has received considerable attention in both research and policy in developed and developing economies. The main aim of this quantitative study was to analyze the willingness of agricultural graduates to participate in entrepreneurial business in the tropical farming project being implemented in Qasr-e-Shirin in kermanshah province, Iran. Therefore, 263 graduates were estimated and analyzed as the statistical sample. The results indicate that a great majority of the graduates (about 75%) do not have membership in any cooperatives. Nearly 65% of the graduates have not experienced the creation of business independently. Furthermore, about half of the respondents are practicing false and unrelated occupations. Based on a structural model in structural equation modeling, the results showed that the values and norms of the community and those around it had the most direct and significant effect on the willingness of the graduates. The study emphasizes the potential of tropical agricultural initiatives as social networks for boosting entrepreneurship and highlights specific implications for policymakers, (potential) entrepreneurs, entrepreneurship support organizations, and researchers. [ABSTRACT FROM AUTHOR]

Background: Among the common mental disorders in societies, depression is one of the most common mental disorders that affects all groups and classes of society. Students are among the groups with the highest rates of depression. Therefore, the need for a short and effective tool for screening and early detection of depression is felt. The aim of this research is to determine validity, reliability and the best cut-off point of the patient health questionnaires-9 (PHQ-9) and patient health questionnaires-2 (PHQ-2) in university students. Methods: This cross-sectional study was conducted on 246 students of Kermanshah University of medical science in Kermanshah province of Iran. They completed the PHQ-2, PHQ-9, and the Beck Depression Inventory-II (BDI-II). A structured interview was used to diagnose depression. To analyze the data, Cronbach's alpha for internal consistency, the intra-class correlation (ICC) for test-retest reliability, confirmatory factor analysis for construct validity, Pearson Correlation for Convergent validity, and receiver-operating characteristic (ROC) curve for Criterion validity was used. Results: The mean age of the participants was 20.43 ± 2.29. Cronbach's alpha coefficient for PHQ-9 and PHQ-2 was 0.82 and 0.80, respectively. The test-retest reliability based on intra-class correlation (ICC) for PHQ-9 and PHQ-2 after two weeks was 0.81 and 0.73, respectively (P < 0.001). The correlation coefficient between the PHQ-9 and PHQ-2 with the BDI-II was 0.74 and 0.64, respectively (P < 0.001). Confirmatory factor analysis showed that two-factor model and one factor model had good model fit. The best cut-off point score for the PHQ-9 was 10 with a sensitivity of 0.90 and specificity of 0.93, and the best cut-off point score for the PHQ-2 was 3 with the sensitivity of 0.71 and specificity of 0.92. Conclusions: The PHQ-9 and PHQ-2 are suitable tools to screen depression in the university students in Iran. [ABSTRACT FROM AUTHOR]

Background: Gnathodiaphyseal dysplasia (GDD) is an ultrarare autosomal dominant bone dysplasia characterized by cementoosseous lesions of the jawbones, bone fragility, frequent bone fractures at the young age, bowing of tubular bones, and diaphyseal sclerosis of long bones associated with generalized osteopenia. GDD is caused by point mutations in anoctamin‐5 (ANO5) on chromosome 11p14.3. For the past few years, next generation sequencing (NGS) technology has facilitated the discovery of causative variants in genetically heterogeneous diseases. Methods: In this study, exome sequencing (ES) was performed using the DNA sample of the proband. Family histories and clinical information were collected through comprehensive medical examination and genetic counseling. Results: ES results identified a heterozygous variant, NM_213599.3:c.1078T>C(p.Cys360Arg) in the ANO5 gene. Sanger sequencing was performed to confirm the detected pathogenic variant in DNA samples of the entire family (except deceased individuals), which segregated with the disease within the family. Finally, in silico analysis was applied to test the pathogenicity of the variant using various online software. Conclusion: In summary, our investigation identified a novel pathogenic variant in the ANO5, responsible for gnathodiaphyseal dysplasia in a large Iranian family. Therefore, based on the present study, this variant can be helpful for diagnosis and effective management of GDD patients. Gnathodiaphyseal dysplasia (GDD) is an ultrarare autosomal dominant bone dysplasia characterized by cementoosseous lesions of the jawbones, bone fragility, frequent bone fractures at the young age. In this study, Exome Sequencing results identified a heterozygous mutation, NM_213599.3:c.1078T>C(p.Cys360Arg) in the ANO5 confirmed by Sanger sequencing. [ABSTRACT FROM AUTHOR]

Objective Autism spectrum disorder (ASD) is a heterogeneous neuropsychiatric group of pervasive developmental disorders mainly diagnosed through the complex behavioral phenotype. According to strong genetic involvement, detecting the chromosome regions and the key genes linked to autism can help to elucidate its etiology. The present study aimed to investigate the value of cytogenetic analysis in syndromic autism and find an association between autism and chromosome abnormalities. Materials & Methods Thirty-six autistic patients from 30 families were recruited, clinically diagnosed with the Diagnostic and Statistical Manual of Mental Disorders (5th ed.; DSM-5). The syndromic patients with additional clinical features (including development delay, attention deficit, hyperactivity disorder, seizure, and language and intellectual impairment) were selected due to elevating the detection rate. Cytogenetics analysis was performed using GTG banding on the patients' cultured fibroblasts. Moreover, array-comparative genomic hybridization (CGH) was also performed for patients with a de novo and novel variant. Results Karyotype analysis in 36 syndromic autistic patients detected chromosomal abnormalities in 2 (5.6%) families, including 46,XY,dup(15)(q11.1q11.2) and 46,XX,ins(7)(q11.1q21.3)dn. In the latter, array-CGH detected 3 abnormalities on chromosome 7, including deletion and insertion on both arms: 46,XX,del(7) (q21.11q21.3),dup(7)(p11.2p14.1p12.3)dn. Conclusion We reported a novel and de novo cytogenetic abnormality on chromosome 7 in an Iranian patient diagnosed with syndromic autism. However, the detection rate in syndromic autism was low, implying that it cannot be utilized as the only diagnostic procedure. [ABSTRACT FROM AUTHOR]

CTNNB1 encodes for the β-catenin protein, a component of the cadherin adhesion complex, which regulates cell-cell adhesion and gene expression in the canonical Wnt signaling pathway. Mutations in CTNNB1 have been reported to be associated with cancer and mental disorders. Recently, loss-of-function mutations in CTNNB1 have been observed in patients with intellectual disability and some other clinical manifestations including motor and language delays, microcephaly, and mild visual defects. We report an 8-year-old Iranian girl with intellectual disability, hypotonia, impaired vision such as vitreomacular adhesion, motor delay, and speech delay. A novel, de novo nonsense mutation (c.1014G > A; p.Trp338Ter) in exon 7 of the CTNNB1 (NM_001904) gene was detected and confirmed by whole-exome sequencing and Sanger sequencing, respectively. This study helps to expand the growing list of loss-of-function mutations known in the CTNNB1 gene. [ABSTRACT FROM AUTHOR]

In the last two decades, recurring drought becomes a challenge for Iran's economy, which is located in a drought-prone area, and it has been expected that drought will become more severe and frequent in the future. In this paper, a computable general equilibrium model was applied to give a full scope of drought economic impacts on Iran's economy. In order to model the effects of droughts as a shock to the economy, water entered into the production function as one of the primary factors. Since drought can lead to health problems, the health sector was separated from the service sector to study the effects of drought events on the health sector. The numerical simulations reveal that drought can lead to lower GDP levels up to 7%. Thus, it can have negative impacts on economic growth. Moreover, other factors such as household savings and income can decrease up to 43% and 12% in drought periods, respectively. These adverse effects will lead to a decline in welfare as a socio-economic consequence of drought. Furthermore, demand for health products will rise around 47%; this can refer to some kinds of diseases followed by droughts. Policies and applicable legislation should be introduced to improve water supply usage and develop efficient methods to save water resources, especially in the agriculture sector, which consumes the most significant part of water. [ABSTRACT FROM AUTHOR]

Earthquake of November 11, 2017 (Mw=7.3) in Ezgeleh village of Sarpol-e Zahab city in Iran, triggering numerous slope instabilities of various types of rockfalls, rockslides, avalanches and mud flows. The existence of a very high inherent potential and susceptibility of the region, on the one hand, and the occurrence of a strong earthquake as a driving factor, on the other hand, have been the main reasons for the instabilities in the region have been the main reasons for the instabilities in the region. The number of slope instabilities caused by this earthquake was rare compared to earthquakes with similar magnitude and thus requires more detailed investigations. The main objective of this study is to make a landslide hazard zonation map in this region, using Entropy Shannon's model, and compare the results with the landslides that triggered by the Ezgeleh earthquake. The landslide conditioning factors such as Slope Angle, Lithology (geology), Geological Strength Index (GSI), Slope Aspect, Distance to Faults, Pick Ground Acceleration (PGA), Plan Curvature, Distance to Roads, Distance to Rivers, Land Use, Normalized Difference Vegetation Index (NDVI) and Topographic Wetness Index (TWI), were extracted from the spatial database. By using these factors, weights of each factor were analyzed by index of Entropy model and the map of landslide hazard zonation were prepared, using Geographical Information System (GIS). The results showed that more than 31.37% of the surface of the area has a moderate to very high hazard of landslides. From 335 landslides identified, 235 (» 70%) locations were used for the landslide susceptibility maps, while the remaining 100 (» 30%) cases were used for model validation. Finally, the ROC (receiver operating characteristic) curve for landslide hazard zonation map was drawn and the areas under the curve (AUC) were calculated. The verification results showed that the index of Entropy model (AUC = 84.3%) has a high accuracy that is assumed as very good. [ABSTRACT FROM AUTHOR]

The present study was conducted to estimate the amount of carbon sequestration in soil containing Jand (Prosopis cineraria) and Mesquite (Prosopis juliflora) and control area at different soil depths (0–15 and 15–30 cm), as well as its organs (root, shoot and leaves) and some soil characteristics in the Anbarabad region, southeastern part of Kerman province, Iran. This study was carried out by two separate factorial experiments. The first factor was the type of plant species in both experiments. The second factor was the plant organs in experiment I and different soil depths in experiment II. The results showed that the carbon stored at two depths of 0–15 and 15–30 cm in P. cineraria (21.39 and 24.36 t/ha) and also in P. juliflora was 23.70 and 24.857 t/ha, respectively. Effects of Soil type under the canopy and soil depths on carbon sequestration were significant. Both plants had the highest amount of organic carbon in the roots and shoots. However, the lowest amount of organic carbon obtained in leaves. Effect of soil depth on carbon sequestration was significant and also the interaction of species and organs on the amount of stored organic carbon were significant. Soil texture, especially clay content, has a great effect on soil carbon sequestration. The highest carbon sequestration was obtained in Mesquite (24.03a ± 1.113 t/ha) and the lowest carbon sequestration was obtained in Jand (20.87b ± 0.203 t/ha). [ABSTRACT FROM AUTHOR]

Introduction: Diabetes mellitus is an associated risk factor for coronary artery disease (CAD). There is a growing interest in myocardial infarction (MI) to better understand the relationship between hyperglycemia and CVD. Glycated hemoglobin (HbA1c) is the standard measure for assessing glucose regulation in diabetes mellitus and an indicator of potential cardiovascular risk and exposure to glucose concentrations over a duration of approximately 3 months. Glycated albumin (GA) may be useful for evaluating hyperglycemia in settings in which HbA1c screening is problematic or inaccessible. Another indicator that has been considered recently is the GA/HbA1c ratio. The goal of this study was to investigate the relationship between GA/HbA1c and the presence of MI and identify the sugar fluctuations as a suitable indicator for early screening and prevention of MI. Methods: This was a case-control study of diabetic patients with MI and patients with type 2 diabetes with no history of heart problems. Each group consisted of 117 participants (117 cases and 117 controls), and the total number of participants was 234. The data collection tools included laboratory tests and a demographic questionnaire. Each patient was assigned to either the case or the control group in a simple and convenient way and the relationship between MI and the GA/HbA1c ratio was investigated. Results: The findings of this study indicated that the ratio of glycated albumin to glycated hemoglobin was higher in the case group with MI than the control group (p = 0.001). To achieve the objectives of the study, descriptive statistics and the Mann-Whitney test were used to analyze the data. Conclusion: This study revealed the relationship between MI and the GA/HbA1c ratio. It can be said that prior to the occurrence of MI, blood glucose levels are a good indicator of recent glucose fluctuations, as well as the prediction and occurrence of MI. Therefore, the improved control of blood sugar and avoidance of high fluctuation may prevent MI from occurring. [ABSTRACT FROM AUTHOR]

The aim of current study was to assess the antioxidant and renoprotective effects of Stachys pilifera Benth (S.P.B.) hydroalcoholic extract on nephrotoxicity induced with cisplatin (CP). Adult rats with bodyweight of 180–220 g were divided into five groups (n = 7) treated as follows: group 1, control; group 2, CP; group 3, pretreatment with S.P.B. before CP; group 4, posttreatment with S.P.B. after CP; and, group 5, S.P.B. extract. A single dose of CP (7 mg/kg) was intraperitoneally injected on the fifth day and hydroalcoholic extract of S.P.B. (500 mg kg–1 day–1) was orally administered. The levels of oxidative stress markers, biochemical tests, and histopathological staining were assayed in serum and renal tissue. Also, the chemical composition of S.P.B. extract was determined by GC‐MS analysis. The main compositions of S.P.B. extract identified by GC‐MS analysis, were hexadeca‐2,6,10,14‐tetraen‐1‐ol, 3,7,11,16‐tetramethyl (24.77%), thymol (14.1%), and linolenic acid (13.4%). In groups treated and pretreated with S.P.B., blood urea nitrogen, creatinine, malondialdehyde, and nitric oxide metabolite in serum as well as malondialdehyde and protein carbonyl content of kidney tissues were significantly decreased in comparison to CP group; in contrast, total thiol group showed a significant increase in treated group as compared to CP group. Furthermore, histological investigation indicated that treatment with S.P.B. improved renal damages induced by CP. The current study showed that S.P.B. hydroalcoholic extract improved the biochemical parameters and kidney function as well as restored antioxidant activity in CP‐induced nephrotoxicity. However, it needs more investigations to define the mechanism of S.P.B. action. Practical applications: In different regions of Iran, Stachys is demonstrated by 34 species, out of which 13 are endemic, one of these endemic species is Stachys pilifera Benth (S.P.B.). The oil of S.P.B. is mainly consisted of cis‐chrysanthenyl acetate, cis‐chrysanthenol, spathulenol, β‐caryophyllene, linalool, and terpinen‐4‐ol. Moreover, phytochemical studies have shown the presence of compounds such as diterpenes, phenylethanoid glycosides, saponins, terpenoides, and flavonoids in Stachys species. The aerial parts of S.P.B. are consumed as herbal tea to treat several disorders, for example, infections, asthma, and rheumatoid arthritis in Iranian folk medicine. The aim of current study was to evaluate the antioxidant and protective effects of S.P.B. hydroalcoholic extract on nephrotoxicity induced with cisplatin (CP). The current study showed that S.P.B. hydroalcoholic extract improved the biochemical parameters and kidney function as well as restored antioxidant activity in CP‐induced nephrotoxicity. However, it needs more researches to define the mechanism of S.P.B. action. [ABSTRACT FROM AUTHOR]

Air pollutants from fossil fuel fired power plants harm the environment and human health. More than 91% of Iran's electricity production is from thermal power plants that use natural gas, diesel, and fuel oil. We apply the impact pathway approach to estimate the health impacts arising from Iranian fossil-based electricity generation emission, and in a next step, we calculate monetary costs of the estimated damages, for a one-year period starting from 20 March 2016 through 2017. We use the new version of SIMPACTS (International Atomic Energy Agency, Vienna, Austria) to investigate the health effects from 61 major Iran fossil-based power plants separately. The selected plants represent 95.6% of total Iran fossil-based power generation. Using the individual and different power plant estimates, we avoid extrapolation and our results can be considered more reliable, taking into account spatial differences. The total damage cost is 723.42 million USD (2000). The damage cost per generated electricity varies from 0.06 to 22.41 USD/MWh and average plant damage cost is 2.85 USD/MWh. Accounting for these external costs indicates the actual costs of fossil energy. The results are useful for policy makers to compare the health costs from these plants and to decide on cleaner energy sources and to take measures to increase benefits for society. [ABSTRACT FROM AUTHOR]

Objectives: This study aimed to evaluate the impact of prenatal zinc supplementation on pregnancy outcomes.Methods: A randomized controlled trial with equal randomization (1:1) was conducted on 540 pregnant women in Rasht, Iran from January 2010 to January 2012. Participants were randomly assigned to receive a daily supplement including 400-µg folic acid and 30-mg ferrous sulfate, with or without 15-mg zinc sulfate from the 16th week of gestation until delivery.Results: Mean difference of birth weight between the two groups was not significantly different (3262 ± 390 g in the zinc, 3272 ± 403 g in the no-zinc groups) (p = 0.780). There were no significant differences between the two groups in terms of means of head circumference (p = 0.999), length (p = 0.848), and gestational age at birth (p = 0.057) incidences of low birth weight (p = 0.863), macrosomia (p = 0.642), and the Apgar score >7 at 5 min (p = 0.999), incidences of preterm delivery (p = 0.999), pre-eclampsia (p = 0.835), premature rupture of membranes (p = 0.630), and spontaneous abortion (p = 0.772). Abruption of placenta, amnionitis, stillbirth, and intrauterine death were not observed.Conclusion: Based on our findings, 15-mg zinc supplementation daily from 16 weeks of pregnancy until delivery cannot improve pregnancy outcomes. [ABSTRACT FROM AUTHOR]

The objective of this study was to study the seed quality aspects of wheat (Triticum aestivum L.) and the extent of weed seed contamination present in wheat seeds produced in different regions of Iran. Four districts (cities), each including 12 fields (six certified seed fields and six farm-saved seed fields), were selected in each regions (provinces). One kilogram of the wheat seed sample was collected from each field for analysis in the laboratory. Wheat seeding was commonly done by farm-saved seed sourced from within the farm due to the high costs of certified seeds purchased from outside sources, followed by the low seed quality. The use of a farm-saved seed resulted in a higher germination rate and a lower mean time to germination compared with another system. The more positive temperatures experienced by mother plants could decrease the number of normal seedling and seedling length vigor index. Generally there was virtually no difference about physiological quality between certified seed and farm-saved seed sector that is related to lower quality of certified seed. The certified produced seeds had the lower number of weed seed, species and genus before and after cleaning. The highest seed purity and 1000 seed weight was obtained from the certified seed production system. The need for cleaning the farm-saved seed samples before sowing is one of the important findings of this survey. [ABSTRACT FROM AUTHOR]

Background: The necessity of modifying the content of basic sciences curriculum has been emphasized in recent decades. The Department of Anatomy in Isfahan University of Medical Sciences (Isfahan, Iran) has been responsible for a part of this modification. Therefore, this study was planned and implemented to integrate physical examination methods and surface and radiological anatomy in the applied anatomy course. Methods: This interventional study was performed in the Department of Anatomy of Isfahan University of Medical Sciences in 2011. Students of medicine were allocated to groups one to four to receive conventional training, applied training alone, theoretical training alone, and theoretical plus applied training, respectively. At the end of the intervention, the students' clinical knowledge was evaluated and compared. Findings: The groups were not significantly different in terms of sex distribution. The mean score of knowledge about physical examination was significantly higher in the first two groups. The highest score in surface anatomy belonged to the first group (P < 0.05). There were no significant differences in radiological anatomy scores between the four groups. Conclusion: Its seems that integrating clinical material in the anatomy course could improve the students' knowledge especially about physical examination and surface anatomy. More complete and enhanced versions of this program will definitely promote better learning of anatomy among students of medicine. [ABSTRACT FROM AUTHOR]

In majority of southern provinces of Iran, soil salinity is a growing problem particularly in the irrigated agricultural areas and has been found to reduce barley yields. In order to investigate the effect of various levels of sodium chloride (Nacl) on some physiological characteristics of two barley (Hordeum vulgare L.) cultivars viz., Afzal (a salt tolerant variety) and Reyhan (a salt sensitive variety), an experiment was conducted with salinity levels of 0, 4, 8 and 12 dS m-1 in four replications in a controlled environment of the greenhouse during 2007-2008. The physiological parameters measured were Photosynthetic Photon Flux Density (PPFD) incident on leaf surface, photosynthesis rate (A), sub-stomatal CO2(Ci), transpiration rate(E) and stomatal conductance of CO2 (gs). The results showed that PPFD increased during the period between 8 to 14 O'clock. At both stem elongation and anthesis stages photosynthesis rate, transpiration rate, stomatal conductance and intercellular CO2 content increased consistently between 8 to 12 O'clock periods. However, the above mentioned traits were found to decline from 12 to 14 O'clock due to the increasing leaf temperature. The decreasing in photosynthesis in saline conditions was attributed to excess Na+ and K+ ions. The increasing of these ions in vacuole has led to the increase in cytoplasm and declining photosynthesis processes. A substantial reduction in photosynthesis, stomatal conductance and transpiration rate was detected due to exposure to salt stress. In general, the photosynthesis rate, transpiration rate, stomatal conductance and intercellular CO2 of salt tolerant Afzal variety were found to be higher than salt sensitive Reyhan variety. Thus, it can be stated from the investigation that due to its less adverse effect on salinity, Afzal cultivar is found more suitable for cultivation in the saline soils of the Iran province. [ABSTRACT FROM AUTHOR]

Background. At 5:28 a.m. (local time) on December 26, 2003, an earthquake measuring 6.51 on the Richter scale struck the city of Bam in the Kerman Province in southeastern Iran. Among the most important morbid events in survivors were acute renal problems. Clinical findings, laboratory data, and management of the renal victims, all of whom were transferred to Shiraz Hospitals, have been the subject of this analysis. Method. Medical records of twenty patients with acute renal failure admitted to three university hospitals and one community hospital were reviewed. Results. Overall, 801 patients were transferred to Shiraz hospitals, of whom 20 (mean age 36.2 ± 14.8 years, 15 males) developed acute renal failure with mean duration of 14.5 ± 9.6 days. Total mortality was 21 (2.6%) and acute renal failure mortality was 3 (15%). Seven patients received standard fluid therapy and 13 patients received variable volume treatment. In total, 79 dialysis sessions were performed in 15 patients (mean 5.2, 3.3 ± 1 sessions per patients). There was a positive correlation between time spent under rubble and peak serum CK (creatine phosphokinase) level (p = 0.035), acute renal failure duration (p = 0.047), and admission potassium levels (p = 0.033). Serum CK level was positively correlated with acute renal failure duration (p = 0.008). Patients who had received standard treatment had significantly shorter duration of acute renal failure (7.1 versus 9.4 days, p = 0.008) and less need for dialysis (1 versus 6, p = 0.007) than patients who were treated variably. Conclusion. In victims of earthquake, time spent under rubble and peak serum CK level can serve to estimate morbidity, and early standard treatment may decrease renal morbidity. [ABSTRACT FROM AUTHOR]

Abstract: To understand the generation mechanism of the Bam earthquake (Mw 6.6), we studied three-dimensional V P, V S and Poisson''s ratio (σ) structures in the Bam area by using the seismic tomography method. We inverted accurate arrival times of 19490 P waves and 19015 S waves from 2396 aftershocks recorded by a temporal high-sensitivity seismic network. The 3-D velocity structure of the seismogenic region was well resolved to a depth of 14km with significant velocity variations of up to 5%. The general pattern of aftershock distribution was relocated by using the 3-D structure to delineate a source fault for a length of approximately 20km along a line 4.5km west of the known geological Bam fault; this source fault dips steeply westward and strikes a nearly north–south line. The main shallow cluster of aftershocks south of the city of Bam is distributed just under the minor surface ruptures in the desert. The 3-D velocity structure shows a thick layer of high V S and low σ (minimum: 0.20) at a depth range of 2–6km. The deeper layer, with a thickness of about 2km, appears to have a low V S and high σ (maximum: 0.28) from 6km depth beneath Bam to a depth of 9km south of the city. The inferred increase of Poisson''s ratio from 2 to 10km in depth may be associated with a change from rigid and SiO2-rich rock to more mafic rock, including the probable existence of fluids. The main seismic gap of aftershock distribution at the depth range of 2 to 7km coincides well with the large slip zone in the shallow thick layer of high V S and low σ. The large slip propagating mainly in the shallow rigid layer may be one of the main reasons why the Bam area suffered heavy damage. [Copyright &y& Elsevier]

Background. Increased oxidative stress play an important role in the risk of cardiovascular disease, mortality, and mortality patients undergoing dialysis. Nasturtium officinale (watercress) contains numerous phytochemical compounds that act as an antioxidant by preventing oxidative damage to biomolecules. Therefore, this research aimed to explore the effect of the ethanolic extract of Nasturtium officinale (EENO) on antioxidant and biochemical markers of hemodialysis patients. Methods. In this double-blind, placebo-controlled trial, 46 hemodialysis patients were randomly recruited to consume either 500 mg/day EENO (n = 23) or placebo capsule (n = 23) for 4 weeks, at Shahid Beheshti Hospital, Yasuj, Iran, in 2019. Biomarkers of oxidative stress including glutathione peroxidase (GPX), superoxide dismutase (SOD), malondialdehyde (MDA), total oxidant status (TOS), total antioxidant capacity (TAC), and total sulfhydryl protein (T-SH) and biochemical parameters such as BUN, Hb, WBC, PLT, Ca, Ph, K, ALB, TChol, TG, LDL, and HDL were evaluated on days 0 and 28. Results. The serum levels of MDA and BUN significantly decreased after taking EENO supplementation P < 0.001 ; however, SOD activity increased during the same period P < 0.001 . The serum levels of TAC remained constant in the intervention group, while it significantly declined in the placebo group P < 0.09 . The extract also prevented elevation in the serum levels of LDL and TG compared to the placebo group, although it was not statistically significant. Conclusions. The data indicated that the consumption of EENO improved some of the antioxidant parameters and minimizes the change in TG and LDL in hemodialysis patients. Therefore, due to the role of these factors in mortality and morbidity of dialysis patients, EENO can improve the condition of dialysis patients. However, more studies with longer intervention times and different doses of EENO are recommended. [ABSTRACT FROM AUTHOR]

The South Caspian Basin (SCB) is known as one of the World's deepest and largest hydrocarbon-prone basins. Due to high subsidence and sedimentation rate in this deep-water basin, many overpressure sandy zones are susceptible to shallow water flow (SWF) problem. SWF is one of the geological hazards in deep-water exploratory drilling such as SCB. When the drill reaches the SWF zones, sands and water flow into the wellbore which cause the drilling failure. Therefore, the present study is the first detailed evaluation of SWF problem predrilling in the SCB, offshore Iran by using 3D post-stack, pre-stack seismic data and log data. Seismic attributes have been applied to identify the buried channels which may be considered as the most potential feature for SWF occurrence. Simultaneous inversion has been used to extract the parameters such as P-impedance (AI), S-impedance (SI), Vp/Vs ratio, Poisson's ratio. Based on inversion results, unsupervised artificial neural networks also used to estimate the probability of SWF risk in the buried channel for the first time. Our initial evaluations based on the similarity and sweetness attributes indicated that some buried shallow sandy channels with a variable width between 500 and 1500 m covered by imperious clay layers are the most potential facies for creating the SWF zones in the SCB. The SWF zone is detected by low-impedances (AI<3150 (m/s)*(g/cc), SI < 1500(m/s)*(g/cc), high Vp/Vs ratio (1.21 to 2.23) and Poisson's ratio in range of 0.05 to 0.38. The probability of SWF risk of the detected channel is estimated to be >0.35 by unsupervised artificial neural networks. Finally, our findings provide a new comprehensive evaluation of SWF problem in the channel system predrilling in the SCB which may be useful for other researchers and decrease the drilling risk in future works. • Evaluates the Shallow Water flow for the first time in the South Caspian Basin, Iran. • Utilizes the similarity and sweetness attributes along with other parameterrs such as P-S impedances and Vp/Vs ration for buried channel detection. • Applies unsupervised artificial neural networks for SWF occurrence probability (between 35% and 95%) in the channel for the first time. • The predicted SWF sands in this study match with the SWF zone experienced during exploratory drilling. [ABSTRACT FROM AUTHOR]

Background: Circulating microRNAs (miRNAs) can help to predict the chemotherapy response in breast cancer with promising results. The aim of the present study was to investigate the relationships between the miR-199a, miR-663a, and miR-663b expression and chemotherapy response in metastatic breast cancer patients. Methods: This study is a case-control study performed at Yasuj University of Medical Sciences (2018-2021). The expression levels of miR-663a, miR-663b, and miR-199a in the serum of 25 patients with metastatic breast cancer versus 15 healthy individuals were determined by the real-time polymerase chain reaction method. The response to treatment was followed up in a 24-month period. All patients were treated with second-line medications. Two or more combinations of these drugs were used: gemcitabine, Navelbine®, Diphereline®, Xeloda®, letrozole, Aromasin®, and Zolena®. Statistical analyses were performed in SPSS 21.0 and GraphPad Prism 6 software. The expression levels were presented as mean±SD and analyzed by Student's t test. Results: The results and clinicopathological features of patients were analyzed by t test. The statistical analysis showed that miR-663a expression was related to human epidermal growth factor receptor 2 (HER2) status and was significantly lower in the HER2+ than HER2- group (P=0.027). Moreover, the expression of miR-199a and miR-663b was significantly correlated with the response to treatment, in which the expression of miR-199a was higher in the poor-response group (P=0.049), while the higher expression of miR-663b was seen in the good-response group (P=0.009). Conclusion: These findings state that the high plasma level of miR-199a and the low plasma level of miR-663b may be related to chemoresistance in patients with metastatic breast cancer. [ABSTRACT FROM AUTHOR]

Asthma is a common chronic disease characterized by inflammation of the airways. One of the most devastating consequences of this inflammatory process is the production of reactive oxygen species responsible for oxidative stress. Nasturtium officinale commonly known as watercress has traditionally been applied in Iranian folk medicine to treat respiratory disorders and diseases mainly bronchitis and asthma. In accordance with these ethnopharmacological reports, through our previous in vivo experiment, we have confirmed significant effect of its hydroalcoholic extract in reducing lung inflammation and oxidative stress in an ovalbumin-induced asthmatic rat model. Aim of the study: The aim of the present study was to investigate the anti-inflammatory and antioxidant effects of N. officinale hydroalcoholic extract (NOE) in patients with asthma, in order to confirm our findings of the previous performed in vivo study. The NOE capsules (500 mg) were treated twice daily for 4 weeks as a supplementary treatment in a randomized, double-blind, and placebo-controlled trial in asthmatics. The primary outcome was Asthma Control Test score. The blood samples were taken at the beginning and end of the study. Then, the level of inflammatory markers, oxidative stress markers and antioxidant enzyme activity were measured. Treatment with NOE for one month caused a reduction in the levels of MDA, PCO and NO metabolite markers compared to the placebo group. In addition, FRAP levels as an indicator of total antioxidant capacity in the intervention group was significantly increased at the end of the treatment period compared to pre-treatment values. Findings demonstrated that NOE may have a therapeutic effect on asthma by improving oxidative stress. However, more studies are required to support these results. Moreover, bio-assay guided fractionation and isolation approach can be conducted to identify major bioactive compound/s. [Display omitted] • Nasturtium officinale has been well-known in Iranian folk medicine to treat respiratory disorders and ailments. • The efficacy of N. officinale on asthmatic patients was assessed through a randomized, double-blind, and placebo-controlled trial. • The hydroalcoholic extract of N. officinale reduced the levels of inflammatory markers and enhanced antioxidant enzyme. [ABSTRACT FROM AUTHOR]

Over the past decade, substantial scientific evidence has showed that long non-coding RNAs (lncRNAs) are extensively expressed and play a crucial role in gene modulation through a diverse range of transcriptional, and post-transcriptional mechanisms. Recent discoveries have emphasized the involvement of lncRNAs in maintaining cellular homeostasis and neurogenesis in the brain. Accumulating reports identified dysregulated lncRNAs associated with psychiatric disorders, including autism. In this study, we examined the expression levels of DISC2, Linc00945, Foxg1-as1, Csnk1a1p, and Evf2 lncRNAs in blood samples from 21 clinically diagnosed autistic patients based on the Diagnostic and Statistical Manual of Mental Disorders criteria-5th edition (DSM-5), compared to age, sex, and ethnically-matched 25 healthy individuals. RNA extraction and cDNA synthesis were performed, followed by real-time PCR for quantification of lncRNAs expression levels. Receiver operating characteristic (ROC) curve analysis was used to evaluate biomarker potential. Additionally, we investigated the correlation between gene expression levels and autism comorbidities. Our results showed a significant decrease in Csnk1a1p expression in patients with autism spectrum disorder (ASD) compared to healthy children (P value = 0.0008). ROC curve analysis indicated that Csnk1a1p expression levels could effectively discriminate patients from healthy controls (AUC = 0.837, P value = 0.000284). No significant differences were observed between Csnk1a1p expression levels and comorbidity with ADHD or intellectual disability (p-value > 0.05). Based on these findings, Csnk1a1p may play a significant role in autistic patients and could serve as a potential biomarker for diagnostic and predictive purposes, as well as a therapeutic target., Competing Interests: Declarations Competing interests The authors declare no competing interests. Ethics approval The study protocol was approved by the ethical committee of Mashhad University of Medical Science. (IR.MUMS.MEDICAL.REC.1397.247). Consent to participate Written informed consent was obtained from the parents of participants.., (© 2024. The Author(s).)

Background: Pontocerebellar hypoplasia is an umbrella term describing a heterogeneous group of prenatal neurodegenerative disorders mostly affecting the pons and cerebellum, with 17 types associated with 25 genes. However, some types of PCH lack sufficient information, which highlights the importance of investigating and introducing more cases to further elucidate the clinical, radiological, and biochemical features of these disorders. The aim of this study is to provide an in-depth review of PCH and to identify disease genes and their inheritance patterns in 12 distinct Iranian families with clinically confirmed PCH., Methods: Cases included in this study were selected based on their phenotypic and genetic information available at the Center for Comprehensive Genetic Services. Whole-exome sequencing (WES) was used to discover the underlying genetic etiology of participants' problems, and Sanger sequencing was utilized to confirm any suspected alterations. We also conducted a comprehensive molecular literature review to outline the genetic features of the various subtypes of PCH., Results: This study classified and described the underlying etiology of PCH into three categories based on the genes involved. Twelve patients also were included, eleven of whom were from consanguineous parents. Ten different variations in 8 genes were found, all of which related to different types of PCH. Six novel variations were reported, including SEPSECS, TSEN2, TSEN54, AMPD2, TOE1, and CLP1. Almost all patients presented with developmental delay, hypotonia, seizure, and microcephaly being common features. Strabismus and elevation in lactate levels in MR spectroscopy were novel phenotypes for the first time in PCH types 7 and 9., Conclusions: This study merges previously documented phenotypes and genotypes with unique novel ones. Due to the diversity in PCH, we provided guidance for detecting and diagnosing these heterogeneous groups of disorders. Moreover, since certain critical conditions, such as spinal muscular atrophy, can be a differential diagnosis, providing cases with novel variations and clinical findings could further expand the genetic and clinical spectrum of these diseases and help in better diagnosis. Therefore, six novel genetic variants and novel clinical and paraclinical findings have been reported for the first time. Further studies are needed to elucidate the underlying mechanisms and potential therapeutic targets for PCH., (© 2024. The Author(s).)

Background: Approximately 5% of colorectal cancers (CRCs) are hereditary. Lynch syndrome (LS), also known as hereditary nonpolyposis colorectal cancer (HNPCC), is the most common form of recognized hereditary CRC. Although Iran, as a developing country, has a high incidence of CRC, the spectrum of variants has yet to be thoroughly investigated., Aims: This study aimed to investigate pathogenic and non-pathogenic variants in MLH1 and MSH2 genes in Iranian patients with suspected Lynch syndrome (sLS)., Methods and Results: In the present study, 25 peripheral blood samples were collected from patients with sLS and high microsatellite instability (MSI-H). After DNA extraction, all samples underwent polymerase chain reaction and Sanger sequencing to identify the variants in the exons of MLH1 and MSH2 genes. The identified variants were interpreted using prediction tools, and were finally reported under ACMG guidelines. In our study population, 13 variants were found in the MLH1 gene and 8 in the MSH2 gene. Interestingly, 7 of the 13 MLH1 variants and 3 of the 8 MSH2 variants were novel, whereas the remaining variants were previously reported or available in databases. In addition, some patients with sLS did not have variants in the exons of the MLH1 and MSH2 genes. The variants detected in the MLH1 and MSH2 genes had specific characteristics regarding the number, area of occurrence, and their relationship with demographic and clinicopathologic features., Conclusion: Overall, our results suggest that analysis of MLH1 and MSH2 genes alone is insufficient in the Iranian population, and more comprehensive tests are recommended for detecting LS., (© 2023 Shahid Beheshti University of Medical Sciences. Cancer Reports published by Wiley Periodicals LLC.)

Familial adenomatous polyposis (FAP) is an autosomal dominant colorectal cancer syndrome that is characterized by the development of multiple adenomas in the colon and rectum with high penetrance rates. This disease has specific features like the occurrence of pathogenic variations in the APC gene and diverse FAP phenotypes due to the occurrence region. In this study we aimed to evaluate pathogenic variants in exons of the APC gene in Iranian patients with FAP. A total of 35 FAP individuals were referred to the gastroenterology ward of Taleghani Hospital. As the aim of the study was to study the germline variations in the participants, the peripheral blood was collected and after the DNA extraction, PCR, and Sanger sequencing processes for the APC gene, the results were evaluated by the ACMG classification guidelines to report their pathogenicity. Accordingly, out of eight specific detected variants, three of them were novel, and the rest were reported previously. These eight variants were all truncating protein and pathogenic, and they were limited to 849-1378 codons. Overall, detected variants revealed discrepancies and parallels with previous reported cases in terms of quantity, occurrence region, and association with demographic and clinicopathological characteristics of patients. The spectrum of detected variants and the patient's phenotype showed distinct characteristics, such as occurrence in specific regions and the absence of extracolonic symptoms like Congenital hypertrophy of the retinal pigment epithelium (CHRPE). These findings open the path to comprehending the typical symptoms, their rarity, and their occurrence in the Iranian population and also due to the facts, we found that the studying of the APC gene alone for diagnosing FAP disease is not sufficient, and considering other genes are completely rational in the case of sequencing and studying the variants.

Background: Preeclampsia (PE) is one of the leading disorders in pregnant women with maternal and fetal complications. Obesity is considered an important risk factor for the development of PE. Genetic variations in fat mass and obesity associated (FTO) gene may play a role in the development of PE. This study aimed to investigate the possible association between FTO gene rs9939609 and PE risk in a sample of Iranian pregnant women., Material and Methods: In this case-control study, 312 pregnant women were included, including 128 with PE and 184 without PE. Demographic data and blood samples were obtained from all individuals. The genotyping of rs9939609 polymorphisms was performed by the tetra-primer amplification refractory mutation system-polymerase chain reaction (TP-ARMS-PCR) method, and the results of TP-ARMS-PCR were confirmed using DNA sequencing., Results: The genotype frequency was 50%, 47.7%, and 2.3% in pregnant patients and 37%, 47.8%, and 15.2% in healthy controls for TT, AT, and AA, respectively. The risk of PE was significantly reduced in the pregnant women having the AA genotype., Conclusion: Based on the results of the present study, rs9939609 polymorphism in the FTO gene may play a protective role against PE. However, further studies are warranted. [Figure: see text].

Background: Despite the fact that numerous studies have investigated the association between genetic polymorphisms and colorectal cancer (CRC), more research is required to comprehend the molecular mechanisms of CRC. In the present study, we investigated the association between lncRNA HOTAIR rs2366152 and rs1899663 polymorphisms with CRC susceptibility in the Iranian population., Methods: This case-control study consisting of 187 CRC patients and 200 healthy samples. The tetra-amplification refractory mutation system-polymerase chain reaction (Tetra-ARMS-PCR) technique was used for the genotyping of rs2366152 and rs1899663 polymorphisms., Results: The findings showed that the AG genotype of the rs2366152 polymorphism has a protective effect on CRC susceptibility (OR = 0.60, 95% CI: 0.38-0.94, p-value = 0.023). Furthermore, rs2366152 polymorphism associated with CRC risk in an over dominant inheritance model (p-value = 0.0089). According to the outcomes of the rs1899663 polymorphism, the GT genotype had protective effects on CRC risk (OR = 0.55, 95% CI: 0.35-0.86, p-value = 0.008). Moreover, statistical analysis has shown that the rs1899663 polymorphism was associated with CRC risk in dominant (p-value = 0.013) and overdominant (p-value = 0.0086) inheritance models in the Iranian population., Conclusion: This study confirmed that HOTAIR rs2366152 and rs1899663 polymorphisms associated with CRC risk in different inheritance models. It is indeed necessary to do additional research to verify our findings., (© 2023 The Authors. Journal of Clinical Laboratory Analysis published by Wiley Periodicals LLC.)

Objective : To investigate the possible association of lncRNA HOTAIR rs920778 and rs874945 polymorphisms with preeclampsia risk in a sample from the Iranian population. Method : The study subjects included 250 preeclamptic women and 250 healthy women. The genotyping for rs920778 and rs874945 polymorphisms were performed using the TP-ARMS-PCR method. Results : HOTAIR rs920778 increased the risk of preeclampsia under the dominant and recessive inheritance patterns (OR = 4.84, 95% CI: 3.30-7.10, P < 0.0001; OR = 6.86, 95% CI: 3.51-13.42, P < 0.0001; respectively). Conclusion : This study confirmed the association of HOTAIR rs920778 polymorphism with preeclampsia in Iranian women. Further studies should be performed to confirm our findings.

Objectives: The present study was designed to determine the effect of Fennel seed powder on menopausal symptoms, sexual desire, and serum estradiol levels in postmenopausal women., Methods: The present study was conducted on 80 eligible women (45-60 y) who were referred to the Mofatteh Gynecology Clinic in Yasuj, Iran. Participants were randomized into equal intervention and control (control) groups. The intervention and control groups received four capsules of Fennel seed powder (2 gr) and starch-containing capsules (2 gr) daily over 8 weeks, respectively. Menopausal symptoms and sexual desire of the participants were evaluated using both the menopausal Kupperman index and Hurlbert index of sexual desire. The questionnaires were completed at baseline, week 4 and week 8 of the study by the participants. The serum estradiol levels were measured at baseline and also at the end of the study. The Chi-square test, independent t test, and repeated-measures analysis of variance were used to analyze the data., Results: Menopausal symptoms score significantly decreased from 30.8 ± 6 to 19 ± 5.5 in the intervention group and also from 31.2 ± 6.5 to 26.4 ± 6.2 in the control group (P < 0.05). Treatment with Fennel seed did not significantly enhance the participants sexual desire (P > 0.05). The estradiol levels declined in the intervention (from 60.4 ± 43.4 to 52.6 ± 25.7) and control groups (from 55.1 ± 22.4 to 39.9 ± 26.9). However, this decrease was lower in the intervention group than in the control group. The intergroup differences were not statistically significant (P > 0.05)., Conclusions: The results of the present study indicated that daily use of Fennel seed significantly improved menopausal symptoms in postmenopausal women over 8 weeks, though its effect on estradiol levels and sexual desire was not significant. Further studies with a larger sample size and longer duration are needed to verify these findings.

Aim: rs2585428 and rs4809960 polymorphisms were significantly associated with overall cancer risk, but there is no evidence regarding the overall colorectal cancer (CRC) risk. Materials & methods: A total of 505 subjects, including 246 patients with CRC and 259 noncancer controls participated in the study. The genotyping was performed using tetra-primer amplification refractory mutation systems PCR. Results: Analysis of genotypes revealed that CYP24A1 rs4809960 CC genotype decreased the risk of CRC (p = 0.009). In addition, the genotype frequencies showed a significant difference under the dominant and recessive inheritance models (p = 0.019 and p = 0.02, respectively). Conclusion: Our findings indicate that the CYP24A1 rs4809960 polymorphism decreased the risk of CRC in the studied population.

Background: Preeclampsia is a hypertensive disorder that affects pregnancy, mother, and fetus. Pathogenesis of preeclampsia could be associated with the angiogenesis pathways. The vascular endothelial growth factor (VEGF) family is one of the important factors for normal pregnancy and angiogenesis. Genetic variations in the gene family members may play a role in the etiology of preeclampsia. We investigated the possible association between VEGFA gene rs3025039, and VEGFR1 ( FLT1 ) gene rs722503 polymorphisms and preeclampsia in a sample of Iranian patients. Methods: Genotyping was performed in 395 women, including, 204 pre-eclamptic pregnant women and 191 healthy normotensive pregnant women by using the PCR-RFLP method. Results: The rs722503 polymorphism was associated with preeclampsia under the dominant model ( P  = 0.04, OR = 1.53, 95% CI: 1.03-2.27). No significant difference was observed for the rs3025039 alleles and genotypes in the studied groups. Conclusions: Based on our study, rs722503 polymorphism in the FLT1 gene may play an important role in susceptibility to preeclampsia.

Objectives: Bordetella pertussis continues to circulate even in countries with good childhood vaccination coverage. This study was undertaken to define the relationship between documented disease and the clinical criteria proposed by the World Health Organization (WHO)., Methods: Nasopharyngeal swab samples were collected from previously healthy 6-14-year-old school children in Tehran, presenting with persistent cough of at least 2- week duration. Specimens were examined for Bordetella pertussis and Bordetella parapertussis by culture and polymerase chain reaction (PCR)., Results: Out of 6601 students, 328 (5.0%) had been coughing for at least 2 weeks. Of these children with cough, 182 (55.5%) experienced whooping, 194 (59.1%) suffered a paroxysmal cough, and 73 (22.3%) had post-tussive vomiting. Twenty-one (6.4%) samples tested positive for B. pertussis and six (1.8%) for B. parapertussis by PCR. Culture of four (1.2%) specimens was positive for B. pertussis. In comparison to PCR, the sensitivity and the specificity of the WHO clinical criteria (year 2000) were 95.2% and 15.0%, respectively., Conclusions: Pertussis remains one of the etiologies of prolonged cough, even in communities with high immunization in children. The specificity of the WHO criteria is low in diagnosing pertussis compared with PCR., (Copyright © 2010 International Society for Infectious Diseases. All rights reserved.)