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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 Jul 01 2016
Journal Name
Al–bahith Al–a'alami
A Semiotic Approach to the Analysis of the News Story
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This study attempts to provide an approach analysis for the news, depending on the bases and principles which conceptuality semiotic researchers of this field first of them «A. J. Gremas» for the theory of «narrative discourse analysis», to more clarify we tried to apply it on a published press- news, to concludes the most important steps and methods that are necessary to follows gain more understanding of the press- news.

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Publication Date
Sun Mar 01 2020
Journal Name
Journal Of Engineering
Thermal Performance Analysis of Compact Heat Exchangers for Thermoelectric Generators
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The efficiency of internal combustion engines (ICE) is usually about thirty percent of the total energy of the fuel. The residual energy is lost in the exhaust gas, the lubrication, and the cooling water in the radiators. Recently much of the researcher’s efforts have focused on taking advantage of wasted energy of the exhaust gas. Using a thermoelectric generator (TEG) is one of the promising ways. However, TEG depends entirely on the temperature difference, which may be offered by the exhaust muffler. An experimental test has been conducted to study the thermal performance of a different muffler internal design. The researchers resort to the use of lost energy in an ICE using TEG, which is one of the ways to take adv

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Publication Date
Sat Jan 01 2022
Journal Name
Geotechnical Engineering And Sustainable Construction Pp 545-555
Numerical Analysis of Historical Masonry Minaret Subjected to Wind Load
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Publication Date
Thu Apr 18 2024
Journal Name
Geomatics And Environmental Engineering
Error Analysis of Stonex X300 Laser Scanner Close-range Measurements
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This research reports an error analysis of close-range measurements from a Stonex X300 laser scanner in order to address range uncertainty behavior based on indoor experiments under fixed environmental conditions. The analysis includes procedures for estimating the precision and accuracy of the observational errors estimated from the Stonex X300 observations and conducted at intervals of 5 m within a range of 5 to 30 m. The laser 3D point cloud data of the individual scans is analyzed following a roughness analysis prior to the implementation of a Levenberg–Marquardt iterative closest points (LM-ICP) registration. This leads to identifying the level of roughness that was encountered due to the range-finder’s limitations in close

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Publication Date
Thu May 25 2023
Journal Name
Eureka: Physics And Engineering
Design, analysis and construction of a simple pulse duplicator system
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One of the most important human diseases that need to be considered in terms of development of the medical engineering devices is cardiovascular disease which is a significant cause of death globally recently. Valvular heart disease is normally treated by restoring or altering heart valves with an artificial one. But the new prosthetic valve designs necessitate testing for durability estimate and failure method. It is significant to simulate the circulation system by the building of a pulse duplicator system. This study is stated by clarifying the parameter and implementation steps of the pulse duplicator system in which the different researchers have utilized the system and tried to explain the design steps of using this system wit

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Publication Date
Thu May 18 2023
Journal Name
Journal Of Engineering
Vibration Analysis of Laminated Composite Plate under Thermo- Mechanical Loading
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The present study focused mainly on the vibration analysis of composite laminated plates subjected to
thermal and mechanical loads or without any load (free vibration). Natural frequency and dynamic
response are analyzed by analytical, numerical and experimental analysis (by using impact hammer) for
different cases. The experimental investigation is to manufacture the laminates and to find mechanical
and thermal properties of glass-polyester such as longitudinal, transverse young modulus, shear modulus,
longitudinal and transverse thermal expansion and thermal conductivity. The vibration test carried to
find the three natural frequencies of plate. The design parameters of the laminates such as aspect ratio,
thickness

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Publication Date
Wed Oct 01 2014
Journal Name
Journal Of Economics And Administrative Sciences
Organizational Structure Analysis Via the dimension of the Organic synthesis
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The study focused on the identification of the natural relation between the organizational components, and the most important is the organizational structure, which not hid its effect on each function and operation of the organizational structure through commanding the individual craters and its forms according to the requirement of these function, also it has relation with an organic synthesis that between the dimensions of the organic synthesis and the practice side in the commission of Integrity.

The problem of the research pensioned in some questions about hypothesis and theoretical parts, in which they go a mention about the hypothesis questions is to use all the knowledge's in this atmosphere and th

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Publication Date
Tue Dec 01 2020
Journal Name
Journal Of Engineering
Simulation and Analysis of the OFDM Transceiver Based Commutation System
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As a result of the increase in wireless applications, this led to a spectrum problem, which was often a significant restriction. However, a wide bandwidth (more than two-thirds of the available) remains wasted due to inappropriate usage. As a consequence, the quality of the service of the system was impacted. This problem was resolved by using cognitive radio that provides opportunistic sharing or utilization of the spectrum. This paper analyzes the performance of the cognitive radio spectrum sensing algorithm for the energy detector, which implemented by using a MATLAB Mfile version (2018b). The signal to noise ratio SNR vs. Pd probability of detection for OFDM and SNR vs. BER with CP cyclic prefix with energy dete

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Publication Date
Thu Feb 25 2010
Journal Name
International Conference On Geotechnical Engineering. 2010
Finite Elements Analysis of Hypar Shell footings on Elastic Foundations
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RM Abbas, AA Abdulhameed, AI Salahaldin, International Conference on Geotechnical Engineering, 2010

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Publication Date
Sat Apr 01 2023
Journal Name
Baghdad Science Journal
Analysis of Adipokines and some Steroid Hormones in Myocardial Infarction
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The most common cause of death is cardiovascular disease (CVD), with ischemic heart disease being the most notable type.  There is a propensity to raise the sensitivity of methods in contemporary laboratory for diagnosing of CVD, and assessing key as CVD bio-indicators. The urgent task is to seek for different indicators as a hopeful tool for early detection and monitoring of myocardial infarction in blood samples only. This study comprised 117 Volunteers, recorded with both genders in the age range of 32-64 years old. The volunteers were categorized into two groups: 67patients of myocardial infarction, other group embraced 50 healthy individuals. The samples of blood were collected and directed for biochemical analysis to evaluate estr

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