ashtiani

Severe combined immunodeficiency (SCID) comprises a heterogeneous group of genetic disorders caused by early defects in the development and function of T cells. Other lymphocyte lineages (B and/or natural killer cells) are variably affected. With a worldwide frequency of approximately 1:50,000 live births, SCID may result from diverse mutations in over 16 genes. Whole-exome sequencing (WES) provides an opportunity for parallel screening of all those genes. This approach is also useful for genetic diagnosis in parents whose infant expired before genetic testing. Here, we describe a heterozygous novel non-frameshift deletion (c.587_598del p.196_199del) in the adenosine deaminase (ADA) gene identified by WES in healthy parents of an expired child with SCID. The mutation was subsequently confirmed to be homozygous in the deceased baby whose left-over blood sample volume was insufficient for direct WES analysis. In conclusion, we here describe a novel mutation in ADA, a well-known SCID gene.

Femur is the strongest, longest and heaviest bone in the human body. Due to the great importance of femur in human body, its injury may cause large numbers of disabilities and mortality. Considering various effective parameters such as mechanical properties, geometry, loading configuration, etc. can propel the study to the trustable results..

A 3D finite element model of the femur was subjected to different impact loading and orientations and also material properties. In addition to a reference healthy model of analysis, a total of 14 cases including four different loading conditions, six different bone density conditions and four different load orientations were considered.

Findings showed that the models with higher bone density cannot considerably reduce the stress under the impact loadings but porous models receive high mechanical stress which the bone prone to injury. The stress and displacement of the bone model received more values distributed through the femoral neck.

Porous bone models had greater stress values under an impact load. Higher and faster impacts may create multi-fracture breaks of the femur. The inferior femoral neck regions are the most vulnerable part in response to the impacts.

The current study aimed to investigate the relationship between attachment styles (secure, insecure) and psychological well-being, mediated by the role of cognitive flexibility. This research was a correlational study. A total of 272 participants were selected by means of multistage cluster sampling among Shiraz university undergraduate students. The data were gathered by using 3 measures: Adult Attachment Scale (Collins & Reid,1996), Scale Psychological Well-Being (Ryff, 1989) and Cognitive Flexibility Inventory (Dennis & Vander Wal, 2010). Using Pearson's correlation coefficient and path analysis with software, SPSS 20 and Amos 22, the data were analyzed. The results of path analysis indicated that the model had a good fit to the data. The secure attachment styles had a significant positive direct effect on psychological well-being. And insecure (avoidance, ambivalence) attachment style had a significant negative direct effect on psychological well-being. Also attachment style had predicted psychological well-being stronger by mediating cognitive flexibility. The results of the prediction showed that, when people with a secure attachment style have more cognitive flexibility, they experience a higher psychological well-being.

The aim of this research was to study gene expression profiling and differential analysis between Bos taurus (Holstein) and Bos indicus (Cholistani) subspecies. The transcriptome was assembled through aligning and mapping the RNA-Seq reads that have already been sequenced by next generation sequencing technology. Among 24616 genes and 26717 transcripts, only 41 genes were differently expressed. The highest digital gene expression was measured for a mitochondrial gene (ENSBTAG00000043545), and was only expressed in the Cholistani population. One gene had two differentially expressed isoforms. Gene pathway analysis indicated that the differential expressed genes included in pathways, are particularly related to immunity, response to stress and angiogenesis. These pathways have probably resulted in adoption to various climatological conditions and perceptible phenotypes in the studied subspecies during their evolution.

Hip abduction is considered an effective exercise to strengthen the gluteus medius muscle due to its performance simplicity and proper muscle involvement. The present parametric study aimed at the assessment of the hip abductor muscle activity in two different modes of exercise, two muscular strength conditions (normal and weak) and three weight loads (0, 2.5, and 5 kg). A comprehensive musculoskeletal model (AnyBody, version 5.3.1) was used to calculate the activities of the gluteus medius muscle based on the optimized inverse dynamics approach. The model performed side-lying and upright standing hip abduction exercise in an iso-kinetic mode. The side-lying exercise required 40% activation of the muscle in the no-weight normal case while the standing exercise needed lower than 20% in the same condition. The addition of extra weights to the abducting leg caused a considerable increase in the muscle recruitment and the muscle weakness induced greater endeavor of the gluteus medius. The rehabilitation of the weak hip abductor muscles may start with standing no-weight cases and continue by adding extra weights. The side-lying exercise may extremely involve the muscle, specifically in weaker individuals.

Nowadays, the existence of limitation in urban spaces, the requisiteness of consideration to land use from the environmental and social perspective, as well as the necessity to develop the urban transportation network, has forced those involved in urban management of cities to use underground spaces as one of the best alternatives. The usage of these infrastructures in developed countries, has led to the very well results on reducing the traffic and urban transportation issues, which unavoidably necessitates their application. On the other hand, the potential of the occurrence of hazards and incoming risks on tunnels has always been considered as the main challenge of tunneling in each three phases of design, construction, and operation, and with regard to the remarkable costs related to construction and operation of these establishments, the identification of these hazards and investigation of their impacts on tunnels has a particular importance on reducing the probable damages. In phases of design and construction, the investigation of types of hazards on urban tunnels shows that hazards such as the occurrence of mistakes in planning stage such as preparation of technical specifications and estimation of design parameters; computational and numerical mistakes; managerial and controlling mistakes; the occurrence of errors and mistakes during the construction phase of tunnel; hazards due to unknown situations of underground spaces; the existence of underground water; entrance of water and flood; effects of earthquake on tunnel; and hazards due to subsidence as well as the gases must be considered in the risk management and securing the safety of urban tunnels.

Considering the importance of maintaining the diversity in native breeds and identification of genetic resources of the country, the genetic diversity in Azari buffaloes was evaluated using ten microsatellite markers (BoLA-DRB3, BM1818,BM1824,CSSM033,CSSM047,ILSTS017,ILSTS033,ILSTS058,ILSTS061andILSTS089). Hair samples were taken from 70 Azari buffaloes from three regions of the northwest of Iran including Ardabil, East Azerbaijan and West Azerbaijan provinces. Genomic DNA was extracted from the hair samples by the modified salting-out method and for DNA amplification the polymerase chain reactions for all primers were optimized. The results indicated that, in Azari buffalo population, all microsatellites loci were highly polymorphic, and they were deviated from Hardy-Weinberg equilibrium (P<0.001) with an exception for BoLA-DRB3 locus. The average observed and expected allelic numbers were 5.9 and 4.72, respectively. The observed and expected heterozygosity, Polymorphic Information Content (PIC) and Shannon Index were 0.87, 0.75, 0.71 and 1.57, respectively. In conclusion, the genetic variation in Azeri buffalo population is quite high and reliable.

In this study, molybdenum oxide thin films are deposited by using high power impulse magnetic sputtering (HiPIMS) at different pulses length of 60, 90, 120, 150 and 180 μs on glass substrates in a combination of reactive and non-reactive gases with a ratio of O2/Ar = 0.66. The structural and optical properties of these coatings are studied. The chemical composition of these metal oxides is determined by analyzing X-ray photoelectron spectroscopy (XPS), and are determined by MoOx stoichiometry with different x-values. By studying the optical properties, it is found that the oxygen deficiency with increasing pulse width cause to reduce the average of optical transmittance and also decrease the optical band gap of coatings.

Head and neck masses are common in infants, children and adolescents. Etiologically, these masses are divided into three groups of inflammatory, congenital and neoplastic lesions. Their incidence rate has been variable in different parts of the world. This study aimed to determine the frequency of head and neck masses in Iranian children during a 21-year period. This retrospective, descriptive study was performed on medical files of patients between 2 to 12 years with pathological head and neck masses derived from the archives of the Pathology Department of Children’s Medical Center of Tehran from 1995 to 2016. Age, gender, time of presentation, location of the lesions and final diagnosis were collected from patients' medical records and descriptively analyzed. Of 594 children, 63.3% were males and 36.7% were females (male to female ratio of 1.7:1, P < 0.001). The mean age was 6.5 years (range 2 years and 2 months to 12 years). The highest prevalence belonged to inflammatory/reactive/infectious lesions (41.7%) followed by neoplastic lesions (35.7%) and congenital/developmental lesions (22.6%). In the neoplastic group, malignant and benign lesions had 26.6% and 9.1% prevalence, respectively. Lymphoma (22.4%; 16.3% Hodgkin and 6.1% non-Hodgkin), lymphadenitis (16.2%) and thyroglossal cyst (11%) were the most prevalent lesions. Based on the results, inflammatory lesions had the highest incidence among the head and neck masses in children. Malignant lesions were not uncommon among Iranian children.

Sick euthyroid syndrome (SES) is the most common endocrine disorder in critically ill patients. It has been shown that the decrease in T4 levels correlates with disease severity and prognosis. Whether SES is a compensatory response to the disease course or needs to be treated is not known yet. To our knowledge, there are only a few studies on critically ill infants and children investigating the correlation between thyroid function and disease severity as well as its outcome. Therefore, this study aimed to investigate thyroid hormone levels in critically ill patients. In this study, thyroid function tests including thyroid stimulating hormone (TSH), total T3 (TT3), free T3 (FT3), total T4 (TT4), free T4 (FT4), and reverse T3 (rT3) were measured in 35 critically ill children admitted to intensive care unit (ICU) on days 1 and 3 of admission. Disease severity was evaluated using pediatric logistic organ dysfunction score (PELOD). Then the patients were divided into groups of survivors and non-survivors and the results were compared between these two groups accordingly. Thirty-five patients, including 19 (54.3%) female and 16 (45.7%) male, with the mean age of 2 years (SD: ± 3.8 years, range: 4 months - 15 years) had entered the study based on the inclusion criteria. 25 (71.6%) patients were transferred from PICU to other wards and 10 (28.4%) patients died. Age and sex were not statistically different in survivors and non-survivors (P > 0.05). It was revealed that there was a significant reduction in mean TT3 levels in non-survivors compared to survivors on the first day of admission (P = 0.007). On the third day of admission, however, a significant reduction in TT4 levels were seen in non-survivors (P = 0.03). Thyroid function assessment, especially TT3 on the first day and TT4 on the third day of admission, along with PELOD score, might be helpful in predicting disease outcome and patient’s survival.

Nowadays in megacities, subways and urban tunnels are recognized as one of the most important key components of urban transportation network and its infrastructure. Construction of these infrastructures in developed countries and gaining efficient results as an outcome of their application in reducing urban transportation issues necessitates the requisiteness of attention on their widespread utilization in developing countries. However, the design and construction of such massive projects in the country which, remarkable costs are spent for, might always be involved with the occurrence of any hazard or threat. These issues are ever considered as one of the main challenges of tunneling during all three phases of design, construction, and operation, and in order to lead to the advancement and sustainable development of these underground structures in terms of construction and maintenance, the investigation of safety and risk assessment against these hazards and threats must be seriously taken into account. In this regard, the first step is the identification of hazards and threats and the investigation of the consequence of their occurrence on urban tunnels. In the operation phase, the study of various hazards and threats on urban tunnels shows that hazards including unintentional fire, collision of vehicles, entrance of surface water and flood into the tunnel, occurrence of earthquake, and negligence in maintenance and repair of tunnel, as well as threats such as explosion, emission of chemical, biological and radioactive agents, cyber-attacks, intentional fire, and subversive operations must be considered in the risk management and safety provision of urban tunnels.

Dromedary and Bactrian camels are two species of camel in Iran that have ecological adaptation to cold and hot desert area, respectively. They play an important role in the life and food security of nomadic tribes. The present study was conducted to investigate genetic diversity of 180 Iranian camels using microsatellite markers. In a panel of 20 microsatellite markers, we observed 214 alleles with a mean number of 10.7 alleles per locus. All loci exhibited PIC values more than 0.7. The genetic differentiation values (FST) per locus was different from 0.01 to 0.039 with an average of 0.021 across all loci. The estimate of genetic differentiation level between all Iranian camel populations in this study was low (FST: 0.008-0.021). High gene flow between populations was also observed. Phylogenetic tree illustrated that the highest genetic distance was between Bactrian and dromedary camel from YaD. However, the results of the present microsatellite analyses showed close genetic relationship in the studied populations. All of the population-locus combinations showed significant deviations (P< 0.01) from Hardy-Weinberg equilibrium.

Overweight is a major public health concern that results in a decreased quality of life. While most of the studies conducted on weight loss strategies have concentrated on issues related to why people gain weight, still little is known about the meaning and the perception of overweight. This study aimed to clarify the perception and experience of women with overweight. This qualitative content analysis study was carried out in 2017-2018 in Tehran, Iran. A total of 18 women with overweight and obesity were purposefully chosen. To collect the data, unstructured and semi-structured interviews were conducted. An inductive content analysis approach was used for the data analysis. The data analysis led to the formation of three categories: obesity concerns, undesirable self-image perception, and psychological pressure and also seven subcategories: inactivity, disorders caused by overweight, body image dissatisfaction, low self-esteem, social stigma, being socially rejected and stressfulness, and sadness. The results showed that overweight and obesity are perceived as a negative experience. As the present study showed, Iranian women have unpleasant and upsetting experiences of their overweight. The findings reveal the needs to develop strategies for helping women with the problem of overweight to have a better feeling of themselves and society.

The purpose of the present study was to prepare a Persian version of the Integrated Hope Scale along with examining its reliability and validity. Therefore, 230 Master’s and Ph.D. students of the Tarbiat Modares University were selected, 10 participants for each item (total: 23 items). The convenience sampling method was used in the study, and participants filled out the translated version of the Integrated Hope Scale (IHS), General Health Scale (GHS), and the Positive and Negative Affect Schedule (PANAS). Factor analysis, face and content validity, as well as the convergent and divergent validity, were used to assess the overall validity of the questionnaire. Results of the factor analysis, that was performed using the parallel analysis method, confirmed that there were four factors in the scale: trust and confidence, lack of vision, positive orientation towards the future, and social communication and personal values. These four factors were similar to those in the original scale. The split-half method showed that the reliability of the scale was 0.83, and the internal consistency index (Cronbach's alpha) indicated that the validity of the total scale was 0.72 and that of the subscales ranged from 0.74 to 0.84. Based on these results, it seems that the IHS enjoys good validity and reliability and has the necessary adequacy to be used in future studies.

Consumption of hot substances may harm the surrounding bone around a dental implant. High temperatures at the bone-implant interface (BII) interferes with local cellular activities involved in the osteointegration.
The present study was aimed at calculating the temperature distribution through the BII and the jaw bone under application of a transient cyclic thermal load.
In this numerical simulation, finite element method was employed in a commercialized dental implant model drawn by computer-aided design tools based on CT data to find the temperature in superficial and deep bone regions near the BII. The heat load was applied cyclically during the intake time.
Results showed that the highest temperature was occurred at the top regions of the interface by magnitude of 48 C. Removal of the thermal loads also was followed by rapid decrease in the bone temperature.
Routine beverages of a hot liquid can increase the temperature of the bone beyond the biological thresholds of the bone cells vitality or remodeling functionality, specifically in the delayed loading types of implantation.

Reduced muscle strength due to aging may adversely affect the ability of the body in postural balance.
The aim of the present study was to numerically investigate the effects of aging on muscle recruitment patterns in keeping the balance during static standing posture.
In this numerical study, a total of 4096 static postures were considered by changing in the angles of three lower limb joints i.e. ankle, knee and hip in two complete human musculoskeletal models of young and old body with 44 muscles in the leg. Inverse dynamics approach was used to find the muscle activation in all postures. The joint mechanisms were assessed by considering the ratio between related muscle activities to the total activation.
Results showed that the muscle efforts in both models were posture-dependent and the knee played a relieving role specifically for the aged model. The possible postures that the young person could provide balance was wider than the elders. Also, the aged model expended more effort in doing the same tasks. The muscles revealed distinct joint mechanisms in the young model in contrast to the elders which used higher but non-distinguishable joint mechanisms.
Collaboration between the joint mechanisms was higher in the aged model but the young could more rely on individual mechanisms during static postural balance.

Type 2 diabetes (T2DM) patients are subject to muscle weakness.
The aim of the study was an assessment of electromyographic (EMG) activity of knee muscles during isometric maximal voluntary contraction in the different disease durations of T2DM.
Eighteen patients with less than 10 years and twelve patients with more than 10 years of T2DM were compared with nineteen matched healthy control subjects. EMG of flexor and extensor muscles of knee concurrently with isometric maximal peak torque of knee flexion and extension at 75 degrees of knee flexion were recorded in three groups.
Isometric maximal peak torque of extension and root mean squared (RMS) of vastus lateralis and medial hamstring in the healthy control was significantly higher than both patient groups. Whenever the maximal isometric peak flexion torque was not significantly different between groups, the mean power frequency (MPF) of flexor muscles especially medial hamstrings were higher in the short-term T2DM than healthy control groups. The two factors, gender and age, had significant effect on maximal peak torque and RMS of knee muscles.
EMG could show the effect of T2DM, gender and age on knee muscles activity. It seems that the medial hamstring was the most sensitive muscle of knee compartment to show the effect of T2DM and difference of short and long-term T2DM in EMG study.

The aim of this study was to investigate the association of bovine leukocyte antigen-DRB3 alleles with peripheral blood mononuclear cell (PBMC) proliferation in response to Staphylococcus aureus. The animals included in this study (n=347) were approximately of same age and comprised of F2 Holstein-Friesian ´ Charolais (n = 155), Holstein-Friesian backcross (F0 Holstein-Friesian dams crossed with unrelated F1 sires, n = 60), Charolais backcross (F1 dams crossed with F0 Charolais sire, n=46) and pure Holstein-Friesian (n = 86). A sequence-based typing method was used in order to determine the genotype of the animals at BoLA-DRB3 locus and a linear mixed model was used to evaluate the association of bovine leukocyte antigen-DRB3 alleles with peripheral blood mononuclear cell (PBMC) proliferation. Beside the BoLA-DRB3 alleles, fixed effects of genetic group and gender and random effect of sires were included into the statistical model. In this research, 27 alleles were found for BoLA-DRB3 gene. The results showed that alleles BoLA-DRB3*0101 and BoLA-DRB3*0902 significantly affected on the stimulation index of S. aureus–induced peripheral blood mononuclear cell proliferation (P

Diacylglycerol acyltransferase1 (DGAT1) is a key enzyme in synthesis of triglycerides. A transition mutation resulting substitution of guanine by adenine in DGAT1 gene and substitution of lysine by alanine in diacylglycerol-acyltransferase enzyme in cattle has a major effect on milk yield and milk composition traits. In this research, the polymorphism of the region spanning exon 3 to exon 17 of the DGAT1 gene of three indigenous Iranian buffalo populations was investigated. A total number of samples of 200 buffaloes (Khuzestani, Shomali and Azari) were collected to extract DNA and the desired fragments were amplified by polymerase chain reaction (PCR). Genotyping was performed using direct sequencing and analyzed by BioEdit software. Sequence analysis showed novel SNPs in comparative to the reference sequence GenBank (DQ886485) at nucleotide positions g.6097A>G, g.7036C>T, g.7338G>A, g.7710C>T, g.8087C>T, g.8259G>A, g.8275G>A and g.8426C>T of DGAT1 gene in buffalo populations. A comparison with Indian buffalo revealed three exonic SNPs, one of which was non-synonymous. A Unique 22 base insertion has been observed in the intron 10. The results described here genetic diversity and could be useful in genetic and breeding programs in Iranian buffalo.

Diacylglycerol acyltransferase1 (DGAT1) has been introduced as a strong potential candidate gene for milk fat content in cattle. DGAT1 gene plays a key role in the final step of triglyceride synthesis. In this study, the genetic variability in the region spanning exon 1 to exon 2 of the buffalo DGAT1 gene was investigated by DNA sequencing. Two hundred buffaloes belonging to three indigenous populations (Khuzestani, Shomali and Azari) were analyzed. No polymorphisms or mutations were found within the coding region of the DGAT1 gene. Analysis of the non-coding region (1935 bp) revealed the identification of eight SNPs located in intron 1 at nucleotide positions g.1701C>T, g.3097C>T, g.3542G>A, g.3627C>T, g.3674G>A, g.3738C>T, g.3741G>C and g.3815C>A, four of which were novel in compare to the reference sequence. High diversity SNPs found at nucleotide positions g.1701C>T, g.3674G>A and g.3815C>A, which displayed intermediate frequencies in the studied population. These findings suggest that detected allele variations might be considered in marker-assisted selection of milk production traits in buffalo.

Water is the main option of any development, so having an accurate management of groundwater is necessary. This study has been done in Damghan sedimentary plain in Iran, which is located in northwest of Semnan Province. The main objective of this research was to estimate the rate and right site of recharge in Damghan plain to prevent the aquifer from decreasing the water table. For this purpose, the monthly data of observation wells in a water year from September 2009 to August 2010 were prepared. Next, the type of aquifer, horizontal hydraulic conductivity (K), and the height of top and bottom layers were provided. Finally, the aquifer has been simulated by MODFLOW in two states: steady and transient. After simulation by application of different recharge rates, such as 11, 21 and 31 million cubic meter (MCM), it became clear that the fluctuation of water table on the southwest of the plain is less than the other areas, so it is considered as the right site of recharge. Meanwhile, the water table showed no significant change as a matter of recharge 11 and 31 MCM rates, but it displayed a considerable enhancement by adding 21 MCM recharge rate. Therefore, the study revealed that the appropriate rate of recharge is 21 MCM.

The heterobinuclear platinum(0)-gold(I) complex [(t-Bu3P)2PtAu(PPh3)] BF4, 5, was synthesized by the reaction of trinuclear cluster complex f[(PPh3)Au]3(- O)gBF4, 4, with one equiv of [(t-Bu3P)2Pt] at room temperature. The heterobinuclear complex 5 was characterized using multinuclear NMR spectroscopy and elemental microanalysis and was further identi ed by single crystal X-ray structure determination. Crystal structure of 5 shows a T-shaped geometry with an unsupported short distance Pt-Au dative bond.

The aim of this study was to compare creativity in children with and without attention deficit hyperactivity ýdisorder. ý
This was an analytic and descriptive study. Participants were 33 children aged 7-12 years selected from a ýchild and adolescent psychiatric clinic at Imam Hossein hospital (Tehran, Iran), who were diagnosed with ýADHD by a child and adolescent psychiatrist. They met the DSM-IV diagnostic criteria for ADHD and had ýno comorbidity according to K-SADS (Kiddi-Scadule for Affective disorders and Schizophrenia). They ýwere requested not to take any medication. They took the Figural TTCT (Torrance Test of Creativity ýThinking) and Raven Intelligence test after using medication. Thirty-three age and sex-matched children ýselected from the regional schools were recruited for the control group. They did not have any ýpsychiatric disorders according to K-SADS. The Figural TTCT and Raven Intelligence test were conducted ýfor the controls as well. ý
No statistically significant difference was found in the intelligence score and the mean±SD of the total ýscore of creativity between children with ADHD (125.2 ± 42.6) and the control group (130.6 ± 47.5) (P ývalue = 0.49). Children with ADHD had worse function in fluency and flexibility items and were not ýdifferent in originality and elaboration items.ý
The creativity of children with ADHD is not different from that of the control group.ý

Groundwater in coastal areas is an essential source of freshwater that warrants protection from seawater intrusion as a priority based on an optimal management plan. Proper optimal management strategies can be developed using a variety of decision-making models. The present study aims to investigate the impacts of environmental changes on groundwater resources. For this purpose, a combined simulation-optimization model is employed that incorporates the SUTRA numerical model and the evolutionaty method of ant colony optimization. The fresh groundwater lens in Kish Island is used as a case study and different scenarios are considered for the likely enviromental changes. Results indicate that while variations in recharge rate form an important factor in the fresh groundwater lens, land-surface inundation due to rises in seawater level, especially in low-lying lands, is the major factor affecting the lens. Furthermore, impacts of environmental changes when effected into the Kish Island aquifer optimization management plan have led to a reduction of more than 20% in the allowable water extraction, indicating the high sensitivity of groundwater resources management plans in small islands to such variations.