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Molecular Analysis of CYP21A2 Gene Mutations among Iraqi Patients with Congenital Adrenal Hyperplasia
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Congenital adrenal hyperplasia is a group of autosomal recessive disorders. The most frequent one is 21-hydroxylase deficiency. Analyzing CYP21A2 gene mutations was so far not reported in Iraq. This work aims to analyze the spectrum and frequency of CYP21A2 mutations among Iraqi CAH patients. Sixty-two children were recruited from the Pediatric Endocrine Consultation Clinic, Children Welfare Teaching Hospital, Baghdad, Iraq, from September 2014 till June 2015. Their ages ranged between one day and 15 years. They presented with salt wasting, simple virilization, or pseudoprecocious puberty. Cytogenetic study was performed for cases with ambiguous genitalia. Molecular analysis of CYP21A2 gene was done using the CAH StripAssay (ViennaLab Diagnostics) for detection of 11 point mutations and >50% of large gene deletions/conversions. Mutations were found in 42 (67.7%) patients; 31 (50%) patients were homozygotes, 9 (14.5%) were heterozygotes, and 2 (3.2%) were compound heterozygotes with 3 mutations, while 20 (32.3%) patients had none of the tested mutations. The most frequently detected mutations were large gene deletions/conversions found in 12 (19.4%) patients, followed by I2Splice and Q318X in 8 (12.9%) patients each, I172N in 5 (8.1%) patients, and V281L in 4 (6.5%) patients. Del 8 bp, P453S, and R483P were each found in one (1.6%) and complex alleles were found in 2 (3.2%). Four point mutations (P30L, Cluster E6, L307 frameshift, and R356W) were not identified in any patient. In conclusion, gene deletions/conversions and 7 point mutations were recorded in varying proportions, the former being the commonest, generally similar to what was reported in regional countries.

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Publication Date
Fri May 01 2015
Journal Name
Journal Of Engineering
Experimental Study of the Thermal Performance of Flat Plate Solar Collectors Array by Different Connection Configurations
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The current research illustrates experimentally the effect of series and parallel connection (Z-I Configurations) of flat plate water solar collectors array on the thermal performance of closed loop solar heating system. The study includes the effect of changing the water flow rate on the thermal efficiency. The results show that, the collector's efficiency in series connection is higher than the parallel connection within flow rate level less than (100) ℓ/hr. Moreover, the collector efficiency in parallel connection of (I-Configurations) is more than the (Z- Configurations) with increasing the water flow rate .The maximum daily efficiency for parallel (I-Configurations) and (Z- Configurations) are (55%) and (51%) at w

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Publication Date
Mon Aug 18 2025
Journal Name
Journal Of Physical Education
Analytical – Comparative Study of Some Kinematical Variables Of Jump Shot and Shooting in Youth Basketball Players
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Publication Date
Wed Dec 30 2009
Journal Name
Iraqi Journal Of Physics
The Effect of PVC Powder content on the Elastic Moduli and Acoustic Impedance of Epoxy Composites
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The primary purpose of the present research was to study the effect of polyvinyl chloride (PVC) powder content on ultrasonic wave velocity in PVC/Epoxy composites. The second part is concerned with the relations of dynamic elastic moduli with the ultrasonic wave velocities, to determine how ultrasonic waves can affect them.
Experimental data have been obtained using the sonic viewer (model -5217 A) device to generate two types of waves, longitudinal waves of frequency 63 kHz and transverse waves of frequency 33 kHz and to measure the transit time required for those waves to travel through individual sample.
The experimental results have shown that the propagation of the ultrasonic velocity increases directly with PVC content in the

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Publication Date
Sat Jun 30 2001
Journal Name
Iraqi Journal Of Chemical And Petroleum Engineering
Combined Effect of Some Internal Ballisting Parameters on the Pressure Behavior of Solid Propellant Rocket Motor
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Publication Date
Fri Mar 15 2019
Journal Name
Al-khwarizmi Engineering Journal
Experimental and Theoretical Study of the Energy Flow of a Two Stages Four Generators Adsorption Chiller
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This work is concerned with a two stages four beds adsorption chiller utilizing activated carbon-methanol adsorption pair that operates on six separated processes. The four beds that act as thermal compressors are powered by a low grade thermal energy in the form of hot water at a temperature range of 65 to 83 °C.  As well as, the water pumps and control cycle consume insignificant electrical power. This adsorption chiller consists of three water cycles. The first water cycle is the driven hot water cycle. The second cycle is the cold water cycle to cool the carbon, which adsorbs the methanol. Finally, the chilled water cycle that is used to overcome the building load. The theoretical results showed that average cycle cooling power

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Publication Date
Tue Jun 01 2021
Journal Name
Al-khwarizmi Engineering Journal
Effect of Environmental Factors on the Accuracy of a Quality Inspection System Based on Transfer Learning
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In this research, a study is introduced on the effect of several environmental factors on the performance of an already constructed quality inspection system, which was designed using a transfer learning approach based on convolutional neural networks. The system comprised two sets of layers, transferred layers set from an already trained model (DenseNet121) and a custom classification layers set. It was designed to discriminate between damaged and undamaged helical gears according to the configuration of the gear regardless to its dimensions, and the model showed good performance discriminating between the two products at ideal conditions of high-resolution images. So, this study aimed at testing the system performance at poo

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Publication Date
Mon Jan 11 2021
Journal Name
Journal Of Planner And Development
The effect of rural building types informing the type of traditional courtyard houses in Sulaimaneyah city.
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The types of traditional houses vary from region to region according to physical and non-physical circumstances, and Sulaymaniyah city is characterized by a type of traditional houses that differ significantly from those in most cities and regions neighboring are always different from the general pattern that is prevalent in the region and the Muslim world.

 

The aim of this research is to study the cause of this difference or distinction in the traditional houses in Sulaimaniyah city, by comparing the most common models in these houses and comparing them with the general models of village houses that originally existed in the region to relaize the convergence and contrast between them. The research was based on a co

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Publication Date
Mon Aug 18 2025
Journal Name
Journal Of Baghdad College Of Dentistry
The role of low level laser therapy on the expression of IL_1 beta in wound healing
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Background: Low-level laser therapy (LLLT) has been extensively applied to improve wound healing due to some biostimulatory properties presented by laser arrays apparently able to accelerate the repair of soft tissue injuries. However, the role of proinflammatory interlukines not been studied yet. IL_1 ? represent one of the most important poroinflammatory interlukines that involved in wound healing. The goal of this study was to investigate the effect of 790-805nm diode laser on the expression of IL_1 ? during wound healing in mice. Materials and Methods: Standard-sized wounds (1.5cm) were carried out in the face of 96 white albino mice. Half of them underwent LLLT treatment (360 J/cm 2) at 790-805 nm delivered immediately after wound pro

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Publication Date
Mon Jan 01 2018
Journal Name
Fme Transaction
The influence of frictional facing thickness on the contact pressure distribution of multi-disc dry clutches
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Frictional heat is generated when the clutch starts to engag. As a result of this operation the surface temperature is increased rapidly due to the difference in speed between the driving and driven parts. The influence of the thickness of frictional facing on the distribution of the contact pressure of the multi-disc clutches has been investigated using a numerical approach (the finite element method). The analysis of contact problem has been carried out for a multiple disc dry clutch (piston, clutch discs, separators and pressure plate). The results present the distribution of the contact pressure on all tShe surfaces of friction discs that existed in the friction clutch system. Axisymmetric finite element models have been developed to ac

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Publication Date
Thu Jan 20 2022
Journal Name
Webology
The Impact of Job Satisfaction in Achieving Strategic Agility through the Mediating Role of Knowledge Sharing
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The main objective of this research is to identify the role of job satisfaction in influencing strategic agility through knowledge sharing. The researcher used the descriptive as well as the analytical approach in the completion of this research by collecting data by means of the questionnaire as the main tool on a sample of the General Company for Food Industries' employees, whose number reached (76) individuals. Moreover, some statistical methods were employed to process the data; including the arithmetic mean, Standard deviation, simple linear correlation coefficient (Pearson), simple linear regression, and the median variable test. It was represented that there is a significant and essential impact of job satisfaction in influen

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