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Abstract Introduction Nephrogenic diabetes insipidus (NDI) is a rare genetic disease that causes water imbalance. The kidneys play a crucial role in regulating body fluids by controlling water balance through urine excretion. This highlights their essential function in managing the body's water levels, but individuals with NDI may have excess urine production (polyuria), that leads to excessive thirst (polydipsia). Untreated affected individuals may exhibit poor feeding and failure to thrive. This disease is caused by mutations in the AVPR2 and the AQP2 genes which have the X‐linked and autosomal recessive/dominant inheritance, respectively. Both of these genes are expressed in the kidney. Methods Twelve Iranian patients from 10 consanguineous families were studied in this project. DNA was extracted from the whole blood samples of the patients and their parents. All coding exons and exon‐intron boundaries of the AVPR2 and AQP2 genes were sequenced in the affected individuals, and the identified variants were investigated in the parents. All variants were analyzed according to the ACMG (American College of Medical Genetics and Genomics) guidelines. Results In this study, 6 different mutations were identified in the patients, including 5 in the AQP2 gene (c.439G>A, c.538G>A, c.140C>T, c.450T>A, and the novel c.668T>C) and 1 in the AVPR2 gene (c.337C>T) in the present study. Discussion As expected, all the detected mutations in this study were missense. According to the ACMG guideline, the identified mutations were categorized as pathogenic or likely pathogenic. Unlike previous studies which showed more than 90% of mutations were in the AVPR2 gene, and only less than 10% of the mutations were in the AQP2 gene, it was found that more than 90% of our identified mutations located in the AQP2 gene, and only one mutation was observed in the AVPR2 gene, which seems it may be a result of the high rate of consanguineous marriages in the Iranian population. We observed genotype‐phenotype correlation in some of our affected individuals, and some of the mutations were observed in unrelated families from same ethnicity which could be suggestive of a founder mutation.

Abstract Background Methylmalonic acidemia (MMA) is a rare metabolic disorder resulting from functional defects in methylmalonyl-CoA mutase. Mutations in the MMAB gene are responsible for the cblB type of vitamin B12-responsive MMA. Results This study used Whole-exome sequencing (WES), Sanger sequencing, linkage analysis, and in-silico evaluation of the variants’ effect on protein structure and function to confirm their pathogenicity in a 2-day-old neonate presenting an early-onset metabolic crisis and death. WES revealed a homozygous missense variant on chromosome 12, the NM_052845.4 (MMAB):c.557G > A, p.Arg186Gln, in exon 7, a highly conserved and hot spot region for pathogenic variants. After being confirmed by Sanger sequencing, the wild-type and mutant proteins’ structure and function were modeled and examined using in-silico bioinformatics tools and compared to the variant NM_052845.4 (MMAB):c.556C > T, p.Arg186Trp, a known pathogenic variant at the same position. Comprehensive bioinformatics analysis showed a significant reduction in the stability of variants and changes in protein–protein and ligand–protein interactions. Interestingly, the variant c.557G > A, p.Arg186Gln depicted more variations in the secondary structure and less binding to the ATP and B12 ligands compared to the c.556C > T, p.Arg186Trp, the known pathogenic variant. Conclusion This study succeeded in expanding the variant spectra of the MMAB, forasmuch as the variant c.557G > A, p.Arg186Gln is suggested as a pathogenic variant and the cause of severe MMA and neonatal death. These results benefit the prenatal diagnosis of MMA in the subsequent pregnancies and carrier screening of the family members. Furthermore, as an auxiliary technique, homology modeling and protein structure and function evaluations could provide geneticists with a more accurate interpretation of variants’ pathogenicity. Graphical Abstract

In this paper, an industrial dairy farm unit was taken as a case study to carry out the applicable technical assessment for the construction of a biogas plant using a combined heat and power (CHP) unit. A comprehensive sensitivity analysis was applied to examine the effectiveness of the operational parameters and feed composition in the purity and production rate of biogas. Aspen Plus was used to implement the anaerobic digestion process. The results showed that any increase in the digester’s operational performance and mass rate of feedstock water led to the modification of biomethane content, but dropped in biogas mass flow rate. Moreover, an increase in the mass rate of carbohydrates, protein, and organic load rate (OLR) of feedstock reduces methane composition. Besides, increasing the rate of lipids has raised the rate of methane production and its composition.

Abstract Chronic myeloid leukemia (CML) is a model of leukemogenesis in which the exact molecular mechanisms underlying blast crisis still remained unexplored. The current study identified multiple common and rare important findings in myeloid blast crisis CML (MBC-CML) using integrated genomic sequencing, covering all classes of genes implicated in the leukemogenesis model. Integrated genomic sequencing via Whole Exome Sequencing (WES), Chromosome-seq and RNA-sequencing were conducted on the peripheral blood samples of three CML patients in the myeloid blast crisis. An in-house filtering pipeline was applied to assess important variants in cancer-related genes. Standard variant interpretation guidelines were used for the interpretation of potentially important findings (PIFs) and potentially actionable findings (PAFs). Single nucleotide variation (SNV) and small InDel analysis by WES detected sixteen PIFs affecting all five known classes of leukemogenic genes in myeloid malignancies including signaling pathway components (ABL1, PIK3CB, PTPN11), transcription factors (GATA2, PHF6, IKZF1, WT1), epigenetic regulators (ASXL1), tumor suppressor and DNA repair genes (BRCA2, ATM, CHEK2) and components of spliceosome (PRPF8). These variants affect genes involved in leukemia stem cell proliferation, self-renewal, and differentiation. Both patients No.1 and No.2 had actionable known missense variants on ABL1 (p.Y272H, p.F359V) and frameshift variants on ASXL1 (p.A627Gfs*8, p.G646Wfs*12). The GATA2-L359S in patient No.1, PTPN11-G503V and IKZF1-R208Q variants in the patient No.3 were also PAFs. RNA-sequencing was used to confirm all of the identified variants. In the patient No. 3, chromosome sequencing revealed multiple pathogenic deletions in the short and long arms of chromosome 7, affecting at least three critical leukemogenic genes (IKZF1, EZH2, and CUX1). The large deletion discovered on the short arm of chromosome 17 in patient No. 2 resulted in the deletion of TP53 gene as well. Integrated genomic sequencing combined with RNA-sequencing can successfully discover and confirm a wide range of variants, from SNVs to CNVs. This strategy may be an effective method for identifying actionable findings and understanding the pathophysiological mechanisms underlying MBC-CML, as well as providing further insights into the genetic basis of MBC-CML and its management in the future.

Gastric cancer is the fourth leading cause of cancer-related mortality and one of the most commonly diagnosed malignancies worldwide. Gastric adenocarcinoma (GAC) accounts for the majority of gastric cancer cases. Circular RNAs (circRNAs) have been shown to be associated with carcinogenesis and cancer progression. This research aims to investigate GAC-associated circRNAs and the underlying mechanisms of circRNA-miRNA-mRNA networks in the development and progression of GAC. Differentially expressed miRNAs and mRNAs (DEMs and DEGs) were identified in Gene Expression Omnibus (GEO) microarray datasets using the R package Limma. A microarray meta-analysis was performed to identify potential GAC-associated circRNAs with high statistical power, resulting in 13 up-regulated and 19 down-regulated circRNAs. CircRNA-miRNA-mRNA networks were constructed by combining predicted and experimentally validated databases and considering differentially expressed miRNAs and mRNAs. The constructed ceRNA networks revealed the potential regulatory effect of hsa_circ_0002019 and hsa_circ_0074736 on key survival-related genes. The expression levels of these two circRNAs were measured in plasma samples from GAC patients and healthy controls using SYBR Green-based real-time PCR. Axon guidance, cellular senescence, AGE-RAGE signaling pathway in diabetic complications, and AMPK signaling pathway were among the major significant (P-value

This paper proposes using sodium-cooled fast reactor technologies for use in hydrogen vapor methane (SMR) modification. Using three independent energy rings in the Russian BN-600 fast reactor, steam is generated in one of the steam-generating cycles with a pressure of 13.1 MPa and a temperature of 505 °C. The reactor's second energy cycles can increase the gas-steam mixture's temperature to the required amount for efficient correction. The 620 ton/hr 540 °C steam generated in this cycle is sufficient to supply a high-temperature synthesis current source (700 °C), which raises the steam-gas mixture's temperature in the reactor. The proposed technology provides a high rate of hydrogen production (approximately 144.5 ton/hr of standard H2), also up to 25% of the original natural gas, in line with existing SMR technology for preparing and heating steam and gas mixtures will be saved. Also, exergy analysis results show that the plant's efficiency reaches 78.5% using HTR heat for combined hydrogen and power generation.

In this study, the multi-mode resource-constrained multi-project scheduling problems (MMRCMPSPs) considering supply management and sustainable approach in the construction industry under uncertain conditions have been investigated using evidence theory to mathematical modeling and solving by multi-objective optimization algorithms. In this regard, a multi-objective mathematical model has been proposed, in which the first objective function aims to maximize a weighted selection of projects based on economic, environmental, technical, social, organizational, and competitive factors; the second objective function is focused on maximizing profit, and the third objective function is aimed at minimizing the risk of supply management. Moreover, various components, such as interest rates, carbon penalties, and other implementation limitations and additional constraints, have also been considered in the modeling and mathematical relationships to improve the model’s performance and make it more relevant to real-world conditions and related issues, leading to better practical applications. In the mathematical modeling adopted, the processing time of project activities has been considered uncertain, and the evidence theory has been utilized. This method can provide a flexible and rational approach based on evidence and knowledge in the face of uncertainty. In addition, to solve the proposed multi-objective mathematical model, metaheuristic optimization algorithms, such as the differential evolution (DE) algorithm based on the Pareto archive, have been used, and for evaluating the results, the non-dominated sorting genetic algorithm II (NSGA-II) has also been employed. Furthermore, the results have been compared based on multi-objective evaluation criteria, such as quality metric (QM), spacing metric (SM), and diversity metric (DM). It is worth noting that to investigate the performance and application of the proposed model, multiple evaluations have been conducted on sample problems with different dimensions, as well as a case study on residential apartment construction projects by a contracting company. In this respect, the answers obtained from solving the model using the multi-objective DE algorithm were better and superior to the NSGA-II algorithm and had a more favorable performance. Generally, the results indicate that using the integrated multi-objective mathematical model in the present research for managing and scheduling multi-mode resource-constrained multi-project problems, especially in the construction industry, can lead to an optimal state consistent with the desired objectives and can significantly improve the progress and completion of projects.

Abstract Background CDC27 is one of the core components of Anaphase Promoting complex/cyclosome. The main role of this protein is defined at cellular division to control cell cycle transitions. Here we review the molecular aspects that may affect CDC27 regulation from cell cycle and mitosis to cancer pathogenesis and prognosis. Main text It has been suggested that CDC27 may play either like a tumor suppressor gene or oncogene in different neoplasms. Divergent variations in CDC27 DNA sequence and alterations in transcription of CDC27 have been detected in different solid tumors and hematological malignancies. Elevated CDC27 expression level may increase cell proliferation, invasiveness and metastasis in some malignancies. It has been proposed that CDC27 upregulation may increase stemness in cancer stem cells. On the other hand, downregulation of CDC27 may increase the cancer cell survival, decrease radiosensitivity and increase chemoresistancy. In addition, CDC27 downregulation may stimulate efferocytosis and improve tumor microenvironment. Conclusion CDC27 dysregulation, either increased or decreased activity, may aggravate neoplasms. CDC27 may be suggested as a prognostic biomarker in different malignancies.

The tendency to renewables is one of the consequences of changing attitudes towards energy issues. As a result, solar energy, which is the leader among renewable energies based on availability and potential, plays a crucial role in full filing global needs. Significant problems with the solar thermal power plants (STPP) are the operation time, which is limited by daylight and is approximately half of the power plants with fossil fuels, and the capital cost. Exergy analysis survey of STPP hybrid with PCM storage carried out using Engineering Equation Solver (EES) program with genetic algorithm (GA) for three different scenarios, based on eight decision variables, which led us to decrease final product cost (electricity) in optimized scenario up to 30% compare to base case scenario from 28.99 $/kWh to 20.27 $/kWh for the case study. Also, in the optimal third scenario of this plant, the inner carbon dioxide gas cycle produces 1200 kW power with a thermal efficiency of 59% and also 1000 m3/h water with an exergy efficiency of 23.4% and 79.70 kg/h with an overall exergy efficiency of 34% is produced in the tetrageneration plant.

A light water nuclear Reactor has been exergy analyzed, and the rate of irreversible exergy loss and exergy destruction is calculated for each of its components. The ratio of these losses compared to the total input exergy loss is calculated, which shows that most irreversible losses occur in the reactors, turbines, steam generators, respectively, as well as in the downstream operations. The main aim of this paper is to optimize the power plant using an innovative firefly algorithm and then to propose a novel strategy to improve the overall performance of the plant. As shown in the results, the exergy destruction rate of the plant decreased by 1.18% using the firefly method, and the exergy efficiency of the plant reached 29.3% comparing to the operational amount of 28.99%. Also, the results of the firefly optimization process compared to the Genetic algorithm and gravitational search algorithm to study the accuracy of the model for exergy analysis fitness problems in the power plants and the results of this comparison has shown that the results are nearly similar in the mentioned methods. However, the firefly is faster and more accurate in limited iterations.

Abstract Background Atypical hemolytic uremic syndrome (aHUS) is a rare disease characterized by microangiopathic hemolytic anemia caused by small vessel thrombosis, thrombocytopenia, and renal failure. The common cause of aHUS is a dysregulation in the alternative complement pathway. Mutations in none complement genes such as diacylglycerol kinase epsilon (DGKE) can also result in this syndrome. Case presentation Here, we report on a 19-year-old female with the clinical diagnosis of aHUS, who has unaffected consanguineous parents and an older sibling who was deceased from aHUS when she was seven months old. We performed whole exome sequencing (WES) followed by evaluation of detected variants for functional significance, using several online prediction tools. Next, in order to confirm the detected pathogenic variant in proband and segregation analysis in her family, Sanger sequencing was done. The novel variant was analyzed in terms of its impact on the protein 3-dimensional structure by computational structural modeling. The results revealed that the proband carried a novel homozygous missense variant in DGKE located in exon 6 of the gene (NM_003647.3, c.942C > G [p.Asn314Lys]), and in silico analysis anticipated it as damaging. Protein computational study confirmed the influence of potential pathogenic variant on structural stability and protein function. Conclusion We suggest that some variations in the catalytic domain of DGKE like p.Asn314Lys which can cause alterations in secondary and 3-D structure of protein, might lead to aHUS.

Two process models are used to convert carbon dioxide into methanol. These processes have been extended and improved using Aspen Plus simulator software. Both processes are found in the CO2 correction system. In this machine, the desired synthesis gas is produced in a flexible configuration. At the same time, the conversion of CO2 to hydrogen via a copper-based catalyst has been accomplished in the methanol blending and bonding machine to produce the target product, methanol. The simulation results show that, in both proposed CO2-gas-to-methanol process, the energy efficiency can be significantly increased, and the CO2 emission significantly reduced as compared to the conventional Gas-to-methanol process. Energy efficiency is also affected by the recycling factor. The higher the recycling factor, the better the CO2 conversion and reaction will be as well as increased energy efficiency and decreased CO2 emission. However, the refractive index seems to have little effect on energy efficiency, and the useful recovery that goes back to the breeder is meager. Implementation of the carbon dioxide utilization process for gas-to-methanol units has significant impacts on these systems in the term of energy and exergy, the performance ratios increased 6.5 and 4.2%, respectively, compared to the base cases. Regarding exergoeconomics, the exergy cost rate decreased 71 $/s. An exergoenvironmental analysis showed the impacts are significant. The environmental impact difference increased by 3%, which, because of its definite form, means a carbon dioxide utilization plant makes a more significant positive difference in the environment.

Background: Glutaric acidemia (GAI) and mucopolysaccharidosis type IIIB (MPSIIIB) are two rare genetic disorders caused by pathogenic variants in two different genes. Here, we report a coexistence of these two different rare disorders in an individual. Methods: A four-year-old Iranian boy born to first-cousin parents suspected to have MPSIIIB and/or GAI was investigated in this study. Targeted genomic enrichment and next-generation sequencing were used to examine genes related to MPS and GA. Sanger sequencing was performed to confirm the results. Results: Two homozygous likely pathogenic variants in α-N-acetylglucosaminidase (NAGLU) and GCDH genes were found and confirmed in the proband. Conclusion: A combination of specific features of two different diseases in a patient has been reported here. More studies on this case and similar cases can provide more information about the effect of simultaneous pathogenic variants in different genes.

Coal will still be a significant component of power generation for years to come, and carbon dioxide capture systems will be the essential feature of clean coal in the future. Those who promise to deliver low carbon dioxide capture costs are committed to the pipeline and future systems. So far, many methods of carbon dioxide capture have proved costly and energy-hungry based on coal system additives. Besides, it is continually moving other industries to effectively utilize the amount of carbon present in carbon dioxide and move toward carbon capture and reuse, which is marketed ready for carbon dioxide, but it has different requirements on product quality. This paper aims to review the methods of carbon capture technologies and develop an optimal method for the green coal combustion process using the Energy and Exergy Analysis. According to the results of this paper, the Chemical Looping Combustion is the most suitable method for this process, and with the coal, powerplants using CLC technologies, the Green Coal target can be made real.

Abstract Background Glycogen storage disease (GSD) is a rare inborn error of the synthesis or degradation of glycogen metabolism. GSD1, the most common type of GSD, is categorized into GSD1a and GSD1b which caused by the deficiency of glucose-6-phosphatase (G6PC) and glucose-6-phosphate transporter (SLC37A4), respectively. The high rates of consanguineous marriages in Iran provide a desirable context to facilitate finding the homozygous pathogenic mutations. This study designates to evaluate the clinical and genetic characteristics of patients with GSD1b to assess the possible genotype-phenotype correlation. Results Autozygosity mapping was performed on nineteen GSD suspected families to suggest the causative loci. The mapping was done using two panels of short tandem repeat (STR) markers linked to the corresponding genes. The patients with autozygous haplotype block for the markers flanking the genes were selected for direct sequencing. Six patients showed autozygosity in the candidate markers for SLC37A4. Three causative variants were detected. The recurrent mutation of c.1042_1043delCT (p.Leu348Valfs*53) and a novel missense mutation of c.365G > A (p.G122E) in the homozygous state were identified in the SLC37A4. In silico analysis was performed to predict the pathogenicity of the variants. A novel whole SLC37A4 gene deletion using long-range PCR and sequencing was confirmed as well. Severe and moderate neutropenia was observed in patients with frameshift and missense variants, respectively. The sibling with the whole gene deletion has shown both severe neutropenia and leukopenia. Conclusions The results showed that the hematological findings may have an appropriate correlation with the genotype findings. However, for a definite genotype-phenotype correlation, specifically for the clinical and biochemical phenotype, further studies with larger sample sizes are needed.

Given the greenhouse gas emissions and future biofuels control, it is encouraged to look for alternatives to raw materials and green granular processes in the crop to produce these biodegradable chemicals. In addition, bio-oil or disinfectant crop oil for the production of second-generation biofuels, bio-oil can be processed in various refining units and may also result in green diesel production, which is not only an opportunity but also an opportunity. It's a challenge for the oil industry. Green Oil or Diesel Green can be produced by renewable diesel processing with petroleum oil in the current hydroprocessing unit. Hoping to discover the mechanism and optimization of processing technology by adding quantities of oils and animal fats to the traditional oil refining process, much research and work has been done on the processing process and simultaneous processing processes. Green Oil This is a literature review of green oil production using hydroprocessing and concurrent processing.

Determination of the maximum temperature and its location is the matter of the greatest importance in many technological and scientific engineering applications. In terms of numerical calculations of the heat conduction equation by using uniform mesh increments in space, large computational cost is sometimes countered. However, adaptive grid refinement method could be computationally efficient both in terms of accuracy and execution time. In this work, the numerical solution of the heat conduction equation based on the slide modeling method (SMM) is introduced. This method is based on a pre-determined mesh density approach which divides each homogeneous region into different slides and then assigns higher mesh point densities to slides of interest regarding their relative importance by performing some mathematical calculations. The importance of each region is determined by some formulated weighting factors which rely on the estimation of temperature profiles in all regions and slides. To investigate the accuracy and efficiency of the proposed method, a number of different case studies have been considered. The results all revealed the strength of the proposed SMM in comparison with the conventional method (based on uniform mesh point distribution).

Glycogen storage diseases (GSDs) are the heterogeneous group of disorders caused by mutations in at least 30 different genes. Different types of GSDs, especially liver GSDs, take overlapping symptoms and can be clinically indistinguishable. This survey evaluated the use of whole-exome sequencing (WES) for the genetic analysis of the liver GSD-suspected patients in three unrelated families. An in-house filtering pipeline was used to assess rare pathogenic variants in GSD-associated genes, autosomal recessive/mendelian disorder genes (carrier status for genetic counseling subjects), and the ACMG’s list of 59 actionable genes. For the interpretation of the causative variants and the incidental/secondary findings, ACMG guidelines were applied. Additionally, we have explored PharmGKB class IA/IB pharmacogenetic variants. The segregation analysis was performed using Sanger sequencing for the novel causative variants. Bioinformatics analysis of the exome data in three individuals revealed three novel homozygous causative variants in the GSD-associated genes. The first variant, c.298_307delATGATCAACC in PYGL gene has related to HERS disease (GSD VI). Both variants of c.1043dupT and c.613-1G > C in SLC2A2 gene have been associated with Fanconi-Bickel syndrome (GSDXI). Eight pathogenic/likely pathogenic medical actionable findings in Mendelian disease genes and 10 pharmacogenetic variants with underlying drug response phenotypes have been identified. No known/expected pathogenic variants were detected in the ACMG’s list of 59 actionable genes. The logical filtering steps can help in finding other medical actionable secondary/incidental findings as well as effectively identifying the causative variants in heterogeneous conditions such as GSDs. Three novel variants related to GSD genes recognized in liver GSD-suspected patients with early infantile and childhood-age onset.

X-linked congenital adrenal hypoplasia due to NR0B1 mutation is characterized by hypogonadotropic hypogonadism (HH) and infertility. Here, we describe a novel pathogenic frameshift variant in NR0B1 associated with congenital adrenal hypoplasia by whole exome sequencing in an Iranian case with high level of testosterone. Clinical evaluations and pedigree drawing were performed. Point mutations, gene conversions, and large deletions of the CYP21A2 gene were checked. WES and segregation analyses were conducted. In silico analysis was also performed for the novel variant. The ACTH, 17-hydroxy progesterone c, and DHEA sulfate values were elevated up to 624.6 pg/mL, 8.6 pmol/L, and 17.8UMOL/L, respectively. No mutation was found in the CYP21A2 gene. WES identified a novel hemizygous frameshift insertion c.218_219insACCA: p.His73GlnfsTer41 variant in the NR0B1 gene with a pathogenic effect according to ACMG criteria. Genetic testing is helpful for differential diagnosis in primary adrenal insufficiency disorders. NR0B1 may be a common cause of congenital adrenal hypoplasia in our population.

Griscelli syndrome (GS) is a rare autosomal recessive disease that affects hair, skin, and immune system. Here, we describe an 8.5-month-old infant with multiple admissions due to fever, petechial purpura, and several recurrent vomiting episodes with a presumptive diagnosis of recurrent sepsis. He was born from parents with consanguineous marriage. The initial examinations revealed huge splenomegaly and hepatomegaly without any source of infection. Laboratory tests revealed a hemophagocytic lymphohistiocytosis (HLH) like a picture with a high blood level of ferritin in all episodes, but the bone marrow test result was normal. Although he had normal hair and skin pigmentation on physical examination, the accumulation of melanosomes was found in his hair shafts on microscopic investigations. Eventually, a genetic test revealed a mutation in the RAB27A gene, which confirmed GS-II diagnosis. Our case is the first case of GS-II from Iran without any apparent clinical features of GS, such as hypopigmented skin and silvery-gray hair. Therefore, a genetic test, together with the microscopic examination of hair and skin, is necessary for the diagnosis and confirmation of GS-II. Since GS-II is an autosomal recessive disorder and consanguineous marriages are popular in Iran, premarital genetic counseling is recommended for this region.

The construction industry is facing constant pressure to improve its poor safety record and low productivity rate. A significant amount of research has been undertaken to identify the best practices to enhance productivity and safety. Nevertheless, the mainstream research in the field of construction focuses on one of these issues rather than implementing a holistic approach to resolve them. Consequently, the interactions between productivity and safety cannot be fully understood. Recent studies have demonstrated that management strategies and practices for improving labour productivity can trigger a series of unintended consequences that affect safety performance in construction projects. However, the behavioural aspects of these unintended consequences have yet to be investigated. This research addresses the gap by measuring the impacts of seven management strategies for improving labour productivity on the safety behaviour of construction labourers. A total of 191 construction labourers participated in a survey designed based on the Management Strategy Assessment Index (MSAI). The results show that the implemented management strategies for improving labour productivity have a greater impact on shaping safety compliance (SC) behaviours than safety participation (SP) behaviours of labourers. This study took a further step by breaking down the management strategies to their constitutive practices and measuring their impacts on SC and SP, and labour productivity. This paper provides further insight into the complex relationship between the productivity and safety behaviour of construction labourers. The findings can help project managers to improve labour productivity without harming their safety unintentionally.

Methylmalonic acidemia (MMA) is usually caused by a deficiency of the enzyme methylmalonyl-CoA mutase (MCM), a defect in the transport or synthesis of its cofactor, adenosyl-cobalamin (cblA, cblB, cblC, cblF, cblD, and cblX), or deficiency of the enzyme methylmalonyl-CoA epimerase. A comprehensive diagnostic approach involves investigations of metabolites with tandem mass spectrometry, organic acid analysis with gas chromatography, enzymatic studies with fibroblast cell culture, and finally, mutation analysis. With biochemical techniques and enzymatic assay the reliable characterization of patients with isolated MMA for mutation analysis can be achieved. Reliable classification of these patients is essential for ongoing and prospective studies on treatments, outcomes, and prenatal diagnoses. This article reviews the diagnostic techniques used to characterize patients with MMA.

Objective: Methylmalonic acidura (MMA) is a rare autosomal recessive inborn error of metabolism. In this study we present a novel nucleotide change in the mutase (MUT) gene of two unrelated Iranian pedigrees and introduce the methods used for its functional analysis. Materials and Methods: Two probands with definite diagnosis of MMA and a common novel variant in the MUT were included in a descriptive study. Bioinformatic prediction of the splicing variant was done with different prediction servers. Reverse transcription- polymerase chain reaction (RT-PCR) was done for splicing analysis and the products were analyzed by sequencing. Results: The included index patients showed elevated levels of propionylcarnitine (C3). Urine organic acid analysis confirmed the diagnosis of MMA, and screening for mutations in the MUT revealed a novel C to G variation at the 3´ splice acceptor site in intron 12. In silico analysis suggested the change as a mutation in a conserved sequence. The splicing analysis showed that the C to G nucleotide change at position -3 in the acceptor splice site can lead to retention of the intron 12 sequence. Conclusion: This is the first report of a mutation at the position -3 in the MUT intron 12 (c.2125-3C>G). The results suggest that the identified variation can be associated with the typical clinical manifestations of MMA.

Objective The phenylalanine hydroxylase (PAH) locus has high linkage disequilibrium. Haplotypes related to this locus may thus be considered sufficiently informative for genetic diagnosis and carrier screening using multi-allelic markers. In this study, we present an efficient method for haplotype analysis of PAH locus using multiplexing dyes. In addition, we explain how to resolve the dye shift challenge in multiplex short tandem repeat (STR) genotyping. Materials and Methods One hundred family trios were included in this descriptive study. The forward primer of a tetra-nucleotide STR and the reverse primer of a variable number tandem repeat (VNTR) were labeled with three different non-overlapping dyes 5-carboxyfluorescein (FAM), 6-carboxy-N,N,N’,N’-tetramethylrhodamine (HEX) and 6-carboxy-N,N,N’,N’-tetramethylrhodamine (TAMRA). The polymerase chain reaction (PCR) products from each family trio were multiplexed for capillary electrophoresis and results were analyzed using Peak Scanner software. Results Multiplexing trio products decreased the cost significantly. The TAMRA labeled products had a significant predictable shift (migrated at a slower electrophoretic rate) relative to the HEX and FAM labeled products. Through our methodology we achieve, the less inter-dye shift than intra-dye shift variance. Correcting the dye shift in the labeled products, according to the reference allele size, significantly decreased the inter-dye variability (P

No standardised approach appears to exist in the architecture, engineering, and construction (AEC) industry for the communication of tolerance information on drawings. As a result of this shortcoming, defects associated with dimensional and geometric variability occur with potentially severe consequences. In contrast, in mechanical engineering, geometric dimensioning and tolerancing (GD&T) is a symbolic language widely used to communicate both the perfect geometry and the tolerances of components and assemblies. This paper prescribes the application of GD&T in construction with the goal of developing a common language called geometric dimensioning and tolerancing in construction (GD&TIC) to facilitate the communication of tolerance information throughout design and construction. design science research is the adopted methodological approach. Evidence was collated from direct observations in two construction projects and two group interviews. A focus group meeting was conducted to evaluate whether the developed solution (GD&TIC) fulfilled its aim. The contribution of this paper to designers, to organisations involved in developing AEC industry standards, and to the scholarly community is twofold: (1) It is an attempt to develop a standardised approach (GD&TIC) for the communication of tolerance information in AEC, and (2) it identifies discrepancies between GD&TIC rules and some of the commonly used American and British standards on tolerances.

Background: One of the promising methods in fertility preservation among women with cancer is cryopreservation of ovarian cortex but there are many drawbacks such as apoptosis and considerable reduction of follicular density in the transplanted ovary. One solution to reduce ischemic damage is enhancing angiogenesis after transplantation of ovarian cortex tissue. Objective: The aim of this study was to investigate the effect of Setarud, on angiogenesis in transplanted human ovarian tissue. Materials and Methods: In this case control study, twenty four nude mice were implanted subcutaneously, with human ovarian tissues, from four women. The mice were randomly divided into two groups (n=12): the experimental group was treated with Setarud, while control group received only vehicle. Each group was divided into three subgroups (n=4) based on the graft recovery days post transplantation (PT). The transplanted fragments were removed on days 2, 7, and 30 PT and the expression of Angiopoietin-1, Angiopoietin-2, and Vascular endothelial growth factor at both gene and protein levels and vascular density were studied in the grafted ovarian tissues. Results: On the 2nd and 7th day PT, the level of Angiopoietin-1 gene expression in case group was significantly lower than that in control group, while the opposite results were obtained for Angiopoietin-2 and Vascular endothelial growth factor. These results were also confirmed at the protein level. The density of vessels in Setarud group elevated significantly on day 7 PT compared to pre-treatment state. Conclusion: Our results showed that administration of Setarud may stimulates angiogenesis in transplanted human ovarian tissues, although further researches are needed before a clear judgment is made.

Introduction: Given the increasing importance of knowledge sharing in gaining a competitive advantage, understanding the factors influencing knowledge sharing is an undeniable necessity. This study aimed to identify the factors affecting the willingness to share knowledge among faculty members of Shiraz University of Medical Sciences. Methods: This was an applied correlational descriptive study. The population consisted of faculty members of Shiraz University of Medical Sciences in 2014, among which 147 subjects were selected through stratified random sampling. Data collection tool was a compilation of four standardized questionnaire. Questionnaire rating was in the form of seven -point Likert scale. The collected data were analyzed using descriptive statistics tests and the correlation coefficient, path analysis and goodness of fit indices using Lisrel 8. 5. Results: Different variables influenced the willingness to share knowledge among which perceived behavioral control, attitudes toward knowledge sharing, and subjective norm had the highest to lowest correlation coefficients respectively in relation to sharing knowledge all the three variables were significant at the 0.01 level. Conclusion: Building trust in university environments can enhance knowledge sharing through individuals’ willingness and capabilities to transfer knowledge knowledge transfer is not just dependent on capabilities but more on willingness to do so.

Introduction: In many countries in order to harmonize higher education systems and university programs along with global changes, improving the quality of learning and teaching is the priority. This study aimed to investigate the relationship between faculty members` demographic features and learning and education quality from the view point of faculty members of Fars Payame Noor University and Shiraz University of Medical Sciences. Methods: In this correlational study, all the faculty members of Fars PNU and Shiraz University of Medical Sciences were selected through Krejcie and Morgan (1970) formula and Simple Random Sampling. The data was collected via a 40-item questionnaire with a five-point Likert Scale. The collected data were analyzed using an independent samples t-test and one-way ANOVA. Results:There was no significant difference between the faculty members’ gender and learning and education quality (T=0.556). There was a significant difference between academic rank (F=3.533), managerial position (t=2.461) and teaching experience (F=3.163) with learning and education quality. Faculty members with no managerial position had a more positive attitude toward learning and education quality compared with the ones with managerial positions. In terms of academic rank, the results indicated that faculty members who were associate and assistant professors had more emphasis on learning and teaching quality compared with faculty members who were instructors and professors. Also, the results showed that faculty members with 8-14 years of teaching experience had the highest mean scores in learning and education quality. Conclusion: As convincing results have not been attained regarding the relationship between demographic features and learning and education quality, it is recommended that more studies be conducted on this area.

Phenylketonuria (PKU) is an inborn error of amino acid metabolism with an autosomal recessive inheritance caused in most cases by mutations in the phenylalanine hydroxylase (PAH) gene. PKU has wide allelic heterogeneity. Here we report a novel heterozygous substitution (c.1223G>T (p.Arg408Leu)) in the PAH gene in an Iranian PKU family. The patient was 19-yr-old female with diagnosis of moderate PKU referred to Department of Medical Genetics, Tehran University of Medical Sciences, Tehran, Iran for genetic counseling/analysis in April 2015. We used PCR-Sequencing to identify any sequence variations in the PAH gene.

Introduction: Nowadays a great deal of information and scientific knowledge is processed through Information Technology including Internet and E-learning. The purpose of the present study was to investigate the factors affecting the use of IT ethically among university students.Materials and Methods: This study was of a descriptive type, which used a correlational design. The study sample consisted of the students studying at Shiraz University of Medical Sciences. The sample was selected through accidental stratified method, using Cocharan formula. The data was collected through a researcher made questionnaire, whose validity was approved by experts and whose reliability was found to be 0.88, using Cronbach's alpha. For data analysis, path analysis and LISREL statistical software were used.Results: Three variables of computer including self-efficacy, perceived severity of punishment and subjective norm had a direct effect on needs intensity variable perceived severity of punishment having the greatest effect.Conclusion: Needs intensity, computer self-efficacy, technology specifications, perceived behavioral control, attitude toward ethical use, and perceived severity of punishment, facilitating conditions and ultimately the subjective norm had the highest to the lowest correlation coefficients with the tendency to use IT ethically.

Purpose: Recently discovered Anabaena variabilis phenylalanine ammonia lyase (AvPAL) proved to be a good candidate for enzyme replacement therapy of phenylketonuria. Outstanding stability properties of a mutant version of this enzyme, produced already in our laboratory, have led us to the idea of culture conditions optimization for soluble expression of this therapeutically valuable enzyme in E. coli. Methods: In the present study, the gene encoding mutant version of AvPAL was cloned into the pET28a expression vector. Different concentrations of IPTG, induction period, growth temperature, shaking speed, as well as different types of culture media were examined with respect to the amount of recombinant protein produced and specific activity of the enzyme. Results: Based upon our findings, maximum amount of active mutant enzyme was attained by addition of 0.5 mM IPTG at 150 rpm to the TB culture media. The yield of active enzyme at cluture tempreature of 25 °C and induction period of 18 hour was the highest. Conclusion: The results of this study indicated that the yield of mutant AvPAL production in E. coli can be affected mainly by culture temperature and inducer concentration.

Introduction : The usage of information and communications technology (ICT) in educational systems is a flowing and active educational programme. However, prior to its usage, an attempt should be made to identify the factors influencing such a phenomenon. This study aims to identify the psychological and job-related factors affecting the intention to use ICT among teachers in Shiraz. Methods : The present study is applicable from the research type perspective, descriptive from the procedure perspective, and correlative from the research design perspective. The sample includes all teachers in Shiraz. To determine the sample size (n = 255), stratified-cluster random sampling and Cochran’s formula were used. Several questionnaires were completed by the participants, such as subjective norm, task-technology fit, perceived ease of use, perceived usefulness, and intention to use. Validity (in terms of content) and reliability of the questionnaires were confirmed by comments from experts and professors and Cronbach’s alpha coefficient (0.69) respectively. Data analysis was done using structural equation modelling with LISREL software (version 8.8). Results : Task-technology fit, perceived ease of use, intention to use, and subjective norm variables directly or indirectly affect the intention to use ICT. Among these, subjective norm variable has the highest direct impact (0.33) upon the intention to use ICT, while, task-technology fit variable has the highest indirect impact (0.08). Moreover, the highest and lowest total effects on the aforementioned variable are associated with the impact of task-technology fit (0.39) and perceived ease of use (0.27) respectively. Conclusions : The findings indicate that the predicted model could provide useful information for the educational authorities with respect to the importance of job-related and psychological factors that directly or indirectly affect the intention to use ICT among teachers.

Background & Objective: The main audience of information technology is human resources and in the case of lack of positive attitude toward information technology the desired results can not be achieved The main purpose of this study was to evaluate factors related to the attitudes toward the use of ICT among the students of Shiraz University of Medical Sciences School of Management Methods: The present c orrelation study was performed on the students of School of Management Shiraz University of Medical Sciences Data collection instrument was a standard questionnaire and data were analyzed by path analysis and Lisrel software Results: Variables of c omputer selfefficacy (023) perceived ease of using technology (037) and perceived usefulness of technology (028) had significant direct relationship with attitude toward use of ICT Computer experience (014) computer selfefficacy (020) and perceived ease of using technology (018) showed significant direct effect on perceived usefulness of technology It is also observed that computer experience (027) and computer selfefficacy (018) have significant direct effect on perceived ease of using technology and finally variable of computer experience (029) showed significant direct effect on computer selfefficacy Conclusion: Among the studied variables perceived ease of using technology had the greatest impact on the attitude toward ICT use and also the model showed appropriate and acceptable fitness with data

This study introduces the Differential Transform Method (DTM) to analyse the free vibration response of a rotating, closed section, composite, Timoshenko beam which features material coupling between flapwise bending and torsional vibrations due to ply orientation. The governing differential equations of motion are derived using Hamilton’s principle and solved by applying DTM. The natural frequencies are calculated and the effects of the bending-torsion coupling, the slenderness ratio and several other parameters on the natural frequencies are investigated using the computer package, Mathematica. Wherever possible, comparisons are made with the studies in open literature.

The interaction between immune cells and endothelial lining of blood vessels is vital in many processes such as inflammatory and immune responses as well as cancer cell metastasis. The expression level of VCAM-1 is regulated by many factors including the promoter activity that is possibly affected by the single nucleotide polymorphisms (SNPs) present in the promoter. There are previous reports suggesting an important role for rs3783605 at -420 position in the pathogenesis of VCAM1-associated diseases. This is possibly due to the effect of this SNP on promoter activity and gene expression. Therefore, present study was designed to investigate the effect of rs3783605 on the activity of VCAM-1 gene promoter in human umbilical vein endothelial cells (HUVEC). In this study, two appropriate expression vectors containing VCAM1 promoter with different alleles of rs3783605 were constructed to express the Green Fluorescent Protein (GFP). Expression vectors were transfected into HUVECs and their EGFP expression level was assessed by the fluorescent microscopy and real-time PCR. Bright green fluorescence was seen in the HUVECs transfected by expression vector containing CMV promoter. The expression level in the cells transfected by vector containing promoter with A allele of rs3783605 was 0.14888 folds and G allele was about 0.37851 folds of cells transfected by vector having CMV promoter (p

Background: To evaluate the frequency, clinical presentation and cardiac involvement of children with RF in the North-East of Iran. Methods: A case series analysis was conducted on 80 patients with acute rheumatic fever (ARF), who were hospitalized at Ghaem hospital in Mashad between 1994 and 2000, were studied. Laboratory tests and results from echocardiographic examinations, and clinical findings were analyzed. All patients received standard care for children with ARF. The X2 test was used for comparison of binary data. Results: When compared to similar studies from developed countries, our study demonstrates a decreased frequency of RF in North-East Iran over the past few years. However, it is still a major health problem and the most common cause of acquired heart disease in childhood. The distribution of the major modified Jones criteria in our study is slightly different from that described in the literature, with a higher incidence of carditis. Conclusion: It appears that carditis is endemic in this region. Considering the high morbidity and complications involved in this disease, there is an immediate need for effective preventive programs for the initiating cause streptococcal infections, especially since it is treatable.

Objective(s)Rapid tests for detection of Streptococcus agalactiae or Group B Streptococci (GBS) at the onset of labor are needed to permit early intrapartum antibiotic prophylaxis. This study aimed to evaluate the PCR assays targeting the 16S ribosomal RNA gene (16S rDNA) for detection of the GBS in comparison with a specific culture method. Materials and MethodsTwo swabs were used to obtain vaginal specimens from the 330 pregnant women attended delivery room at Hedayat hospital, Tehran, Iran. One swab was analyzed by direct plating onto selective GBS agar medium (ISLAM) and the other swab was used for a PCR assay, which amplified the 16S rDNA of S. agalactiae. Comparative study between the selective culture and the PCR assay was done among the 330 tested women.ResultsThe GBS colonization rate based on the culture results was 20.6% (68/330). Both culture and PCR methods were positive for 56 and negative for 253 women. The culture method was positive and PCR was negative in 12 women. The culture was negative and the PCR positive for 9 women. Sensitivity of the PCR assay was 82.3% and specificity was 96.5%. The positive predictive value was 86.15% and negative predictive value was 95.4%. ConclusionISLAM diagnostic procedure and PCR are rapid and reliable analyzing methods, which might be useful for accurate diagnosis of GBS colonization in pregnant women at the time of delivery.

Background: To evaluate the frequency, clinical presentation and cardiac involvement of children with RF in the North-East of Iran. Methods: A case series analysis was conducted on 80 patients with acute rheumatic fever (ARF), who were hospitalized at Ghaem hospital in Mashad between 1994 and 2000, were studied. Laboratory tests and results from echocardiographic examinations, and clinical findings were analyzed. All patients received standard care for children with ARF. The X2 test was used for comparison of binary data. Results: When compared to similar studies from developed countries, our study demonstrates a decreased frequency of RF in North-East Iran over the past few years. However, it is still a major health problem and the most common cause of acquired heart disease in childhood. The distribution of the major modified Jones criteria in our study is slightly different from that described in the literature, with a higher incidence of carditis. Conclusion: It appears that carditis is endemic in this region. Considering the high morbidity and complications involved in this disease, there is an immediate need for effective preventive programs for the initiating cause streptococcal infections, especially since it is treatable.

Background: The aim of this study was to evaluate the pathologic findings in patients with sinonasal polyposis after functional endoscopic sinus surgery, and to assess the relationship between these findings and the predisposing factors of polyposis. Methods: This prospective study was conducted from March 2004 to November 2006 among 30 patients. All patients underwent endoscopic sinus surgery after a detailed history and physical examination. The biopsy specimen were evaluated in two groups of eosinophilic and neutrophilic polyposis; then pathologic findings were compared with other findings. Findings: Overall, 20 patients (66.67%) were male and 10 (23.33%) were female. The highest frequency was seen in the 50-60-year age group. Allergic rhinitis and septal deviation were the most co-existing conditions. Eosinophilic polyposis was more prevalent than neutrophilic polyposis (18% vs. 12%, respectively, p=0. 04). Conclusion: Eosinophilic polyposis was more common than neutrophilic type. Males are more frequently affected than females. Allergic diseases and nasal structural abnormalities were the most important factors associated with nasal polyposis. Key words: Nasal Polyposis, endoscopic sinus surgery, predisposing factors